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+ + + a + + + + d + + + + b + + + + c + + + + e + + + + + + + + + + + + + + 8 + + 7 + + 6 + + 5 + + 4 + + diff --git a/courses/06_img/projection.png b/courses/06_img/projection.png new file mode 100644 index 0000000..b5bf7a5 Binary files /dev/null and b/courses/06_img/projection.png differ diff --git a/courses/06_img/projection.svg b/courses/06_img/projection.svg new file mode 100644 index 0000000..abd8de7 --- /dev/null +++ b/courses/06_img/projection.svg @@ -0,0 +1,191 @@ + + + + + + + + + + image/svg+xml + + + + + + + + + a + + + + d + + + + b + + + + c + + + + e + + + + + + + + + diff --git a/courses/lab06_data/OMIM.csv b/courses/lab06_data/OMIM.csv new file mode 100755 index 0000000..b3cb535 --- /dev/null +++ b/courses/lab06_data/OMIM.csv @@ -0,0 +1,4235 @@ +"Disease", "Gene" +"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY", "CYP17A1" +"17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY", "HSD17B10" +"2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "ACADSB" +"THREE M SYNDROME 1", "CUL7" +"THREE M SYNDROME 2", "OBSL1" +"3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY", "MCCC1" +"3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY", "MCCC2" +"3-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF", "HSD3B2" +"3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "HADHSC" +"BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY", "HIBCH" +"3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME", "SERAC1" +"3-METHYLGLUTACONIC ACIDURIA, TYPE I", "AUH" +"3-METHYLGLUTACONIC ACIDURIA, TYPE III", "OPA3" +"3-METHYLGLUTACONIC ACIDURIA, TYPE V", "DNAJC19" +"3MC SYNDROME 1", "MASP1" +"3MC SYNDROME 2", "COLEC11" +"46,XX SEX REVERSAL 1", "SRY" +"46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY ", "DHH" +"46,XY SEX REVERSAL 1", "SRY" +"46,XY SEX REVERSAL 2", "DAX1" +"46,XY SEX REVERSAL 3", "NR5A1" +"46,XY SEX REVERSAL 5", "CBX2" +"46,XY SEX REVERSAL 6", "MAP3K1" +"46,XY SEX REVERSAL 7", "DHH" +"46,XY SEX REVERSAL 8", "AKR1C2" +"46,XY SEX REVERSAL 8", "AKR1C4" +"DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY", "DPYD" +"5-OXOPROLINASE DEFICIENCY", "OPLAH" +"THIOPURINE S-METHYLTRANSFERASE DEFICIENCY", "TPMT" +"CARDIOMYOPATHY, DILATED, 1A", "LMNA" +"CARDIOMYOPATHY, DILATED, 1A", "MYBPC3" +"TESTICULAR MICROLITHIASIS ", "SLC34A2" +"ABCD SYNDROME", "EDNRB" +"ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF", "ACAD9" +"ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA", "GNAS" +"ADULT SYNDROME", "TP63" +"ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY", "GATM" +"AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY", "ATIC" +"AARSKOG-SCOTT SYNDROME", "FGD1" +"ABETALIPOPROTEINEMIA", "MTP" +"CAMPOMELIC DYSPLASIA", "SOX9" +"ACATALASEMIA", "CAT" +"ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME", "AAAS" +"ACHEIROPODY", "LMBR1" +"ACHONDROGENESIS, TYPE IB", "SLC26A2" +"ACHONDROGENESIS, TYPE IA", "TRIP11" +"ACHONDROGENESIS, TYPE II", "COL2A1" +"ACHONDROPLASIA", "FGFR3" +"RETINAL CONE DYSTROPHY 3A", "PDE6H" +"ACHROMATOPSIA 2", "CNGA3" +"ACHROMATOPSIA 3", "CNGB3" +"ACHROMATOPSIA 4", "GNAT2" +"ACNE INVERSA, FAMILIAL, 1", "NCSTN" +"ACNE INVERSA, FAMILIAL, 2", "PSENEN" +"ACNE INVERSA, FAMILIAL, 3", "PSEN1" +"ACROCALLOSAL SYNDROME", "KIF7" +"ACROCAPITOFEMORAL DYSPLASIA", "IHH" +"ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE", "SLC39A4" +"ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE", "PRKAR1A" +"ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE", "PDE4D" +"ACROFACIAL DYSOSTOSIS 1, NAGER TYPE", "SF3B4" +"ACROKERATOSIS VERRUCIFORMIS", "ATP2A2" +"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "GNAS" +"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "SSTR5" +"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "AIP" +"ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE", "GDF5" +"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE", "NPR2" +"ACROMICRIC DYSPLASIA", "FBN1" +"ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF", "ACADM" +"ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF", "ACADS" +"ADAMS-OLIVER SYNDROME 1", "ARHGAP31" +"ADAMS-OLIVER SYNDROME 2", "DOCK6" +"ADAMS-OLIVER SYNDROME 3", "RBPJ" +"ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY", "APRT" +"LUNG CANCER", "CYP2A6" +"LUNG CANCER", "EGFR" +"LUNG CANCER", "TNFSF6" +"LUNG CANCER", "IRF1" +"LUNG CANCER", "BRAF" +"LUNG CANCER", "ERBB2" +"LUNG CANCER", "PIK3CA" +"LUNG CANCER", "KRAS" +"LUNG CANCER", "MAP3K8" +"LUNG CANCER", "CASP8" +"LUNG CANCER", "PRKN" +"LUNG CANCER", "SLC22A1L" +"LUNG CANCER", "PPP2R1B" +"LUNG CANCER", "ERCC6" +"OVARIAN CANCER", "CTNNB1" +"OVARIAN CANCER", "AKT1" +"OVARIAN CANCER", "PIK3CA" +"OVARIAN CANCER", "CDH1" +"OVARIAN CANCER", "OPCML" +"OVARIAN CANCER", "PRKN" +"FAMILIAL ADENOMATOUS POLYPOSIS, 2", "MUTYH" +"SALIVARY GLAND ADENOMA, PLEOMORPHIC", "PLAG1" +"FAMILIAL ADENOMATOUS POLYPOSIS 1", "APC" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,", "ADA" +"ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES", "PKLR" +"ADENYLOSUCCINASE DEFICIENCY", "ADSL" +"ADERMATOGLYPHIA", "SMARCAD1" +"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "ADIPOQ" +"ADRENOCORTICAL CARCINOMA, HEREDITARY", "TP53" +"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "CYP11B1" +"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY", "CYP21A2" +"ADRENAL HYPOPLASIA, CONGENITAL", "DAX1" +"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE", "CYP11A" +"ACTH DEFICIENCY, ISOLATED", "TBX19" +"ADRENOLEUKODYSTROPHY", "ABCD1" +"BLOOD GROUP--I SYSTEM", "GCNT2" +"ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL", "PER2" +"AFIBRINOGENEMIA, CONGENITAL", "FGA" +"AFIBRINOGENEMIA, CONGENITAL", "FGB" +"AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE", "IGHM" +"AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE", "IGLL1" +"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE", "CD79A" +"AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE", "BLNK" +"AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT", "LRRC8A" +"AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE", "CD79B" +"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III", "BTK" +"AGAMMAGLOBULINEMIA, X-LINKED", "BTK" +"AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY", "SLC12A6" +"AGNATHIA-OTOCEPHALY COMPLEX", "PRRX1" +"AICARDI-GOUTIERES SYNDROME 1", "TREX1" +"AICARDI-GOUTIERES SYNDROME 2", "RNASEH2B" +"AICARDI-GOUTIERES SYNDROME 3", "RNASEH2C" +"AICARDI-GOUTIERES SYNDROME 4", "RNASEH2A" +"AICARDI-GOUTIERES SYNDROME 5", "SAMHD1" +"ALAGILLE SYNDROME 2", "NOTCH2" +"ALAGILLE SYNDROME 1", "JAG1" +"ALAND ISLAND EYE DISEASE", "CACNA1F" +"ALBINISM, OCULOCUTANEOUS, TYPE II", "MC1R" +"ALBINISM, OCULOCUTANEOUS, TYPE II", "OCA2" +"ALBINISM, OCULOCUTANEOUS, TYPE IA", "TYR" +"ALBINISM, OCULOCUTANEOUS, TYPE IB", "TYR" +"ALBINISM, OCULOCUTANEOUS, TYPE III", "TYRP1" +"ALCOHOL SENSITIVITY, ACUTE", "ALDH2" +"GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM", "CYP11B1" +"ALEXANDER DISEASE ", "GFAP" +"ALKAPTONURIA", "HGD" +"ALLAN-HERNDON-DUDLEY SYNDROME", "SLC16A2" +"ALOPECIA UNIVERSALIS CONGENITA", "HR" +"ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME", "RBM28" +"ALPHA-2-PLASMIN INHIBITOR DEFICIENCY", "PLI" +"ALPHA-METHYLACETOACETIC ACIDURIA", "ACAT1" +"ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY", "AMACR" +"ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME", "ATRX" +"ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED", "ATRX" +"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY ", "RAG1" +"ALPORT SYNDROME, X-LINKED", "COL4A5" +"ALPORT SYNDROME, AUTOSOMAL DOMINANT ", "COL4A3" +"ALPORT SYNDROME, AUTOSOMAL RECESSIVE ", "COL4A3" +"ALPORT SYNDROME, AUTOSOMAL RECESSIVE ", "COL4A4" +"ALSTROM SYNDROME", "ALMS1" +"ALTERNATING HEMIPLEGIA OF CHILDHOOD 2", "ATP1A3" +"ALTERNATING HEMIPLEGIA OF CHILDHOOD 1", "ATP1A2" +"ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS", "FOXF1" +"ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS", "CPS1" +"ALVEOLAR SOFT PART SARCOMA", "ASPSCR1" +"ALZHEIMER DISEASE", "A2M " +"ALZHEIMER DISEASE", "APP" +"ALZHEIMER DISEASE", "ACE" +"ALZHEIMER DISEASE", "NOS3" +"ALZHEIMER DISEASE", "PLAU" +"ALZHEIMER DISEASE", "SORL1" +"ALZHEIMER DISEASE", "BLMH" +"ALZHEIMER DISEASE", "APBB2" +"ALZHEIMER DISEASE", "MPO" +"ALZHEIMER DISEASE", "PACIP1" +"ALZHEIMER DISEASE", "HFE" +"ALZHEIMER DISEASE 3", "PSEN1" +"ALZHEIMER DISEASE 2", "APOE" +"ALZHEIMER DISEASE 4", "PSEN2" +"AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME", "FAM20A" +"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3", "WDR72" +"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4", "C4orf26" +"AMELOGENESIS IMPERFECTA, TYPE IV", "DLX3" +"AMELOGENESIS IMPERFECTA, TYPE IE", "AMELX" +"AMELOGENESIS IMPERFECTA, TYPE III", "FAM83H" +"AMELOGENESIS IMPERFECTA, TYPE IB", "ENAM" +"AMELOGENESIS IMPERFECTA, TYPE IC", "ENAM" +"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1", "KLK4" +"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2", "MMP20" +"AMINOACYLASE 1 DEFICIENCY", "ACY1" +"AMISH INFANTILE EPILEPSY SYNDROME", "SIAT9" +"AMYLOIDOSIS, FAMILIAL VISCERAL", "APOA1" +"AMYLOIDOSIS, FAMILIAL VISCERAL", "FGA" +"AMYLOIDOSIS, FAMILIAL VISCERAL", "LYZ" +"AMYLOIDOSIS, FINNISH TYPE", "GSN" +"AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED", "TTR" +"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1", "OSMR" +"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2", "IL31RA" +"AMYOTROPHIC LATERAL SCLEROSIS 1", "SOD1" +"AMYOTROPHIC LATERAL SCLEROSIS 1", "NEFH" +"AMYOTROPHIC LATERAL SCLEROSIS 1", "PRPH" +"AMYOTROPHIC LATERAL SCLEROSIS 1", "DCTN1" +"AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "TARDBP" +"AMYOTROPHIC LATERAL SCLEROSIS 11", "FIG4" +"AMYOTROPHIC LATERAL SCLEROSIS 12", "OPTN" +"AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "VCP" +"AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "UBQLN2" +"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE", "SIGMAR1" +"AMYOTROPHIC LATERAL SCLEROSIS 17", "CHMP2B" +"AMYOTROPHIC LATERAL SCLEROSIS 18", "PFN1" +"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE", "ALS2" +"AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "SETX" +"AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "FUS" +"AMYOTROPHIC LATERAL SCLEROSIS 8", "VAPB" +"AMYOTROPHIC LATERAL SCLEROSIS 9", "ANG" +"FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS", "C9orf72" +"AMYOTROPHY, HEREDITARY NEURALGIC", "SEPT9" +"ANAUXETIC DYSPLASIA", "RMRP" +"ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS", "KCNJ2" +"ANDROGEN INSENSITIVITY SYNDROME", "AR" +"ANDROGEN INSENSITIVITY, PARTIAL", "AR" +"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES", "GATA1" +"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I", "CDAN1" +"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II", "SEC23B" +"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV", "KLF1" +"RH-NULL, REGULATOR TYPE", "RHAG" +"URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO", "NT5C3" +"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD ", "NRAMP2" +"ANEMIA, SIDEROBLASTIC, X-LINKED", "ALAS2" +"ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE ", "GLRX5" +"ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE ", "SLC25A38" +"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA", "ABCB7" +"ANGELMAN SYNDROME", "MECP2" +"ANGELMAN SYNDROME", "CDKL5" +"ANGELMAN SYNDROME", "UBE3A" +"ANGIOEDEMA, HEREDITARY, TYPE III", "F12" +"ANGIOEDEMA, HEREDITARY, TYPE I", "C1NH" +"ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS", "COL4A1" +"ANIRIDIA", "PAX6" +"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4", "RSPO4" +"BRANCHIOOTORENAL SYNDROME 1", "EYA1" +"ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS", "FOXE3" +"ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS", "PITX3" +"ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS", "POR" +"ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS", "FGFR2" +"AORTIC ANEURYSM, FAMILIAL THORACIC 4", "MYH11" +"AORTIC ANEURYSM, FAMILIAL THORACIC 6", "ACTA2" +"AORTIC ANEURYSM, FAMILIAL THORACIC 7", "MYLK" +"AORTIC VALVE DISEASE 2", "SMAD6" +"AORTIC VALVE DISEASE 1", "NOTCH1" +"APERT SYNDROME", "FGFR2" +"APHAKIA, CONGENITAL PRIMARY ", "FOXE3" +"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED", "GRN" +"APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES", "COX7B" +"APLASIA OF LACRIMAL AND SALIVARY GLANDS", "FGF10" +"APPARENT MINERALOCORTICOID EXCESS", "HSD11B2" +"ARGININEMIA", "ARG1" +"ARGININOSUCCINIC ACIDURIA", "ASL" +"AROMATASE DEFICIENCY", "CYP19A1" +"AROMATASE EXCESS SYNDROME", "CYP19A1" +"AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY", "DDC" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1", "TGFB3" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "DSG2" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11", "DSC2" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12", "JUP" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2", "RYR2" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "TMEM43" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "DSP" +"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9", "PKP2" +"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1", "ENPP1" +"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2", "ABCC6" +"ARTERIAL TORTUOSITY SYNDROME", "SLC2A10" +"ARTHROGRYPOSIS, DISTAL, TYPE 1A", "TPM2" +"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "MYH3" +"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TPM2" +"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TNNI2" +"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TNNT3" +"ARTHROGRYPOSIS, DISTAL, TYPE 1B", "MYBPC1" +"ARTHROGRYPOSIS, DISTAL, TYPE 2A", "MYH3" +"LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE", "GLE1" +"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1", "VPS33B" +"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2", "VIPAR" +"ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD", "WISP3" +"ARTS SYNDROME", "PRPS1" +"ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "GOT1" +"ASPARTYLGLUCOSAMINURIA", "AGA" +"ASPHYXIATING THORACIC DYSTROPHY 2", "IFT80" +"ASPHYXIATING THORACIC DYSTROPHY 3", "DYNC2H1" +"ASPHYXIATING THORACIC DYSTROPHY 4", "TTC21B" +"ASPHYXIATING THORACIC DYSTROPHY 5", "WDR19" +"ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE", "PTGER2" +"ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE", "TBX21" +"VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF", "TTPA" +"CEREBELLAR ATAXIA, CAYMAN TYPE", "ATCAY" +"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA", "APTX" +"POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA", "FLVCR1" +"ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT", "RNF170" +"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE", "MTPAP" +"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE", "AFG3L2" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1", "SETX" +"ATAXIA-TELANGIECTASIA", "ATM" +"ATAXIA-TELANGIECTASIA-LIKE DISORDER", "MRE11A" +"ATELOSTEOGENESIS, TYPE II", "SLC26A2" +"ATELOSTEOGENESIS, TYPE I", "FLNB" +"ATELOSTEOGENESIS, TYPE III", "FLNB" +"ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME", "HOXA1" +"IgE RESPONSIVENESS, ATOPIC", "MS4A2" +"IgE RESPONSIVENESS, ATOPIC", "IL4R" +"IgE RESPONSIVENESS, ATOPIC", "SELP" +"IgE RESPONSIVENESS, ATOPIC", "PLA2G7" +"IgE RESPONSIVENESS, ATOPIC", "SPINK5" +"IgE RESPONSIVENESS, ATOPIC", "IL21R" +"IgE RESPONSIVENESS, ATOPIC", "HAVCR1" +"IgE RESPONSIVENESS, ATOPIC", "PHF11" +"ATRANSFERRINEMIA", "TF" +"ATRIAL FIBRILLATION, FAMILIAL, 10", "SCN5A" +"ATRIAL FIBRILLATION, FAMILIAL, 11", "GJA5" +"ATRIAL FIBRILLATION, FAMILIAL, 12", "ABCC9" +"ATRIAL FIBRILLATION, FAMILIAL, 3", "KCNQ1" +"ATRIAL FIBRILLATION, FAMILIAL, 4", "KCNE2" +"ATRIAL FIBRILLATION, FAMILIAL, 6", "NPPA" +"ATRIAL FIBRILLATION, FAMILIAL, 7", "KCNA5" +"ATRIAL FIBRILLATION, FAMILIAL, 9", "KCNJ2" +"ATRIAL SEPTAL DEFECT 2", "GATA4" +"ATRIAL SEPTAL DEFECT 3", "MYH6" +"ATRIAL SEPTAL DEFECT 4", "TBX20" +"ATRIAL SEPTAL DEFECT 5", "ACTC1" +"ATRIAL SEPTAL DEFECT 6", "TLL1" +"ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS", "NKX2-5" +"ATRIAL SEPTAL DEFECT 8", "CITED2" +"ATRIAL SEPTAL DEFECT 9", "GATA6" +"ATRICHIA WITH PAPULAR LESIONS", "HR" +"ATRIOVENTRICULAR SEPTAL DEFECT 3", "GJA1" +"ATRIOVENTRICULAR SEPTAL DEFECT 4", "GATA4" +"ATRIOVENTRICULAR SEPTAL DEFECT 5", "GATA6" +"ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2", "CRELD1" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2", "CYBB" +"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1", "DIAPH3" +"DEAFNESS, AUTOSOMAL RECESSIVE 9", "OTOF" +"AURAL ATRESIA, CONGENITAL", "TSHZ1" +"AURICULOCONDYLAR SYNDROME 1", "GNAI3" +"AURICULOCONDYLAR SYNDROME 2", "PLCB4" +"AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM ", "ITCH" +"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV", "NRAS" +"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME", "TNFRSF6" +"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME", "TNFSF6" +"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA", "CASP10" +"AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I", "AIRE" +"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "PLCG2" +"AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME", "PSMB8" +"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY", "COL2A1" +"AXENFELD-RIEGER SYNDROME, TYPE 1", "PITX2" +"AXENFELD-RIEGER SYNDROME, TYPE 3", "FOXC1" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IFNGR1" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IFNGR2" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "STAT1" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IL12RB1" +"BALLER-GEROLD SYNDROME", "RECQL4" +"HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE", "FOXE1" +"BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA", "OCLN" +"BANNAYAN-RILEY-RUVALCABA SYNDROME", "PTEN" +"BARAITSER-WINTER SYNDROME 1", "ACTB" +"BARAITSER-WINTER SYNDROME 2", "ACTG1" +"BARDET-BIEDL SYNDROME", "BBS1" +"BARDET-BIEDL SYNDROME", "BBS4" +"BARDET-BIEDL SYNDROME", "TRIM32" +"BARDET-BIEDL SYNDROME", "BBS5" +"BARDET-BIEDL SYNDROME", "MKKS" +"BARDET-BIEDL SYNDROME", "BBS2" +"BARDET-BIEDL SYNDROME", "BBS7" +"BARDET-BIEDL SYNDROME", "PTHB1" +"BARDET-BIEDL SYNDROME", "TTC8" +"BARDET-BIEDL SYNDROME", "ARL6" +"BARDET-BIEDL SYNDROME", "MKS1" +"BARDET-BIEDL SYNDROME", "TMEM67" +"BARDET-BIEDL SYNDROME", "CEP290" +"BARDET-BIEDL SYNDROME", "BBS10" +"BARDET-BIEDL SYNDROME", "CCDC28B" +"BARDET-BIEDL SYNDROME", "BBS12" +"BARDET-BIEDL SYNDROME", "C2orf86" +"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAP1" +"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAP2" +"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAPBP" +"BARE LYMPHOCYTE SYNDROME, TYPE II", "MHC2TA" +"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFXAP" +"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFX5" +"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFXANK" +"BARRETT ESOPHAGUS", "MSR1" +"BARRETT ESOPHAGUS", "CTHRC1" +"BARRETT ESOPHAGUS", "ASCC1" +"KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS", "GJB2" +"BARTH SYNDROME", "TAZ" +"BARTTER SYNDROME, ANTENATAL, TYPE 1", "SLC12A1" +"BARTTER SYNDROME, ANTENATAL, TYPE 2", "KCNJ1" +"BARTTER SYNDROME, TYPE 3", "CLCNKB" +"BARTTER SYNDROME, TYPE 4A", "BSND" +"BARTTER SYNDROME, TYPE 4B", "CLCNKB" +"BARTTER SYNDROME, TYPE 4B", "CLCNKA" +"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "RASA1" +"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "PTCH1" +"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "PTCH2" +"BASAL CELL NEVUS SYNDROME", "PTCH1" +"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3", "SLC20A2" +"BASAL LAMINAR DRUSEN", "HF1" +"BEARE-STEVENSON CUTIS GYRATA SYNDROME", "FGFR2" +"MUSCULAR DYSTROPHY, BECKER TYPE", "DMD" +"BECKWITH-WIEDEMANN SYNDROME", "H19" +"BECKWITH-WIEDEMANN SYNDROME", "CDKN1C" +"BECKWITH-WIEDEMANN SYNDROME", "KCNQ1OT1" +"BECKWITH-WIEDEMANN SYNDROME", "NSD1" +"BENT BONE DYSPLASIA SYNDROME", "FGFR2" +"BERNARD-SOULIER SYNDROME", "GP1BB" +"BERNARD-SOULIER SYNDROME", "GP9" +"BERNARD-SOULIER SYNDROME", "GP1BA" +"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT", "GP1BA" +"MACULAR DYSTROPHY, VITELLIFORM", "BEST1" +"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE", "BEST1" +"BETA-UREIDOPROPIONASE DEFICIENCY ", "UPB1" +"BETHLEM MYOPATHY", "COL6A1" +"BETHLEM MYOPATHY", "COL6A2" +"BETHLEM MYOPATHY", "COL6A3" +"BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY", "CYP4V2" +"BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES", "FREM1" +"BILE ACID MALABSORPTION, PRIMARY", "SLC10A2" +"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1", "HSD3B7" +"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2", "AKR1D1" +"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3", "CYP7B1" +"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4", "AMACR" +"BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET BTD DEFICIENCY ", "BTD" +"BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME", "KCNK9" +"BIRT-HOGG-DUBE SYNDROME", "FLCN" +"BJORNSTAD SYNDROME", "BCS1L" +"BLADDER CANCER ", "FGFR3" +"BLADDER CANCER ", "HRAS" +"BLADDER CANCER ", "KRAS" +"BLADDER CANCER ", "RB1" +"BLAU SYNDROME", "NOD2" +"BLEEDING DISORDER, PLATELET-TYPE, 11", "GP6" +"BLEEDING DISORDER, PLATELET-TYPE, 8", "P2RY12" +"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS", "FOXL2" +"BLOOD GROUP--LUTHERAN INHIBITOR", "KLF1" +"BLOOM SYNDROME", "RECQL3" +"BLUE CONE MONOCHROMACY", "OPN1MW" +"BLUE CONE MONOCHROMACY", "OPN1LW" +"BOHRING-OPITZ SYNDROME", "ASXL1" +"BONE MARROW FAILURE, FAMILIAL", "SRP72" +"BOOMERANG DYSPLASIA ", "FLNB" +"BORJESON-FORSSMAN-LEHMANN SYNDROME", "PHF6" +"BOTHNIA RETINAL DYSTROPHY", "RLBP1" +"BOWEN-CONRADI SYNDROME", "EMG1" +"BRANCHIOOTIC SYNDROME 3", "SIX1" +"BRACHYDACTYLY, TYPE A1", "IHH" +"BRACHYDACTYLY, TYPE A2", "BMP2" +"BRACHYDACTYLY, TYPE A2", "GDF5" +"BRACHYDACTYLY, TYPE A2", "BMPR1B" +"BRACHYDACTYLY, TYPE B1", "ROR2" +"BRACHYDACTYLY, TYPE B2", "NOG" +"BRACHYDACTYLY, TYPE C", "GDF5" +"BRACHYDACTYLY, TYPE D", "HOXD13" +"BRACHYDACTYLY, TYPE E1", "HOXD13" +"BRACHYDACTYLY, TYPE E2", "PTHLH" +"BRACHYDACTYLY-SYNDACTYLY SYNDROME", "HOXD13" +"BRACHYDACTYLY-MENTAL RETARDATION SYNDROME", "HDAC4" +"BRACHYOLMIA TYPE 3", "TRPV4" +"PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION", "RGS9" +"PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION", "RGS9BP" +"BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE", "COL4A1" +"BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY", "BCKDK" +"BRANCHIOOCULOFACIAL SYNDROME", "TFAP2A" +"BRANCHIOOTIC SYNDROME 1", "EYA1" +"BRANCHIOOTORENAL SYNDROME 2", "SIX5" +"BREAST CANCER", "AKT1" +"BREAST CANCER", "PIK3CA" +"BREAST CANCER", "PHB" +"BREAST CANCER", "RAD51A" +"BREAST CANCER", "KRAS" +"BREAST CANCER", "TP53" +"BREAST CANCER", "CDH1" +"BREAST CANCER", "BRCA2" +"BREAST CANCER", "XRCC3" +"BREAST CANCER", "HMMR" +"BREAST CANCER", "TSG101" +"BREAST CANCER", "BARD1" +"BREAST CANCER", "CASP8" +"BREAST CANCER", "SLC22A1L" +"BREAST CANCER", "RAD54L" +"BREAST CANCER", "CHEK2" +"BREAST CANCER", "PPM1D" +"BREAST CANCER", "BRIP1" +"BREAST CANCER", "RB1CC1" +"BREAST CANCER", "ATM" +"BREAST CANCER", "PALB2" +"BRITTLE CORNEA SYNDROME 2", "PRDM5" +"BRITTLE CORNEA SYNDROME 1", "ZNF469" +"BRODY MYOPATHY ", "ATP2A1" +"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1", "SCNN1B" +"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1", "CFTR" +"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2", "SCNN1A" +"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3", "SCNN1G" +"BROOKE-SPIEGLER SYNDROME", "CYLD" +"BROWN-VIALETTO-VAN LAERE SYNDROME 1", "SLC52A3" +"BROWN-VIALETTO-VAN LAERE SYNDROME 2", "SLC52A2" +"BRUCK SYNDROME 2", "PLOD2" +"BRUGADA SYNDROME 1", "SCN5A" +"BRUGADA SYNDROME 2", "GPD1L" +"BRUGADA SYNDROME 3", "CACNA1C" +"BRUGADA SYNDROME 4", "CACNB2" +"BRUGADA SYNDROME 5", "SCN1B" +"BRUGADA SYNDROME 6", "KCNE3" +"BRUGADA SYNDROME 7", "SCN3B" +"BRUGADA SYNDROME 8", "HCN4" +"BRUNNER SYNDROME ", "MAOA" +"BURKITT LYMPHOMA", "MYC" +"BUSCHKE-OLLENDORFF SYNDROME", "LEMD3" +"C SYNDROME", "CD96" +"C1q DEFICIENCY", "C1QA" +"C1q DEFICIENCY", "C1QB" +"C1q DEFICIENCY", "C1QC" +"COMPLEMENT COMPONENT C1s DEFICIENCY", "C1S" +"COMPLEMENT COMPONENT 2 DEFICIENCY", "C2" +"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE", "C3" +"COMPLEMENT COMPONENT 4B DEFICIENCY", "C4B" +"COMPLEMENT COMPONENT 4A DEFICIENCY", "C4A" +"COMPLEMENT COMPONENT 5 DEFICIENCY", "C5" +"COMPLEMENT COMPONENT 6 DEFICIENCY", "C6" +"COMPLEMENT COMPONENT 7 DEFICIENCY", "C7" +"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I", "C8A" +"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II", "C8B" +"COMPLEMENT COMPONENT 9 DEFICIENCY", "C9" +"NEMALINE MYOPATHY 1", "TPM3" +"CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY", "HTRA1" +"CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME", "FGFR3" +"CD59 DEFICIENCY ", "CD59" +"CD8 DEFICIENCY, FAMILIAL ", "CD8A" +"CHARGE SYNDROME", "SEMA3E" +"CHARGE SYNDROME", "CHD7" +"CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS", "NSDHL" +"COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME", "PIGL" +"CINCA SYNDROME", "NLRP3" +"CK SYNDROME", "NSDHL" +"COACH SYNDROME", "TMEM67" +"COACH SYNDROME", "RPGRIP1L" +"COACH SYNDROME", "CC2D2A" +"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE", "MMP1" +"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE", "HMOX1" +"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL", "CPT2" +"CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY", "CPT1A" +"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE", "CPT2" +"MASA SYNDROME", "L1CAM" +"CAFFEY DISEASE", "COL1A1" +"CALCIFICATION OF JOINTS AND ARTERIES", "NT5E" +"CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME", "PRG4" +"CAMURATI-ENGELMANN DISEASE", "TGFB1" +"CANAVAN DISEASE", "ASPA" +"CANDIDIASIS, FAMILIAL, 2", "CARD9" +"CANDIDIASIS, FAMILIAL, 4", "CLEC7A" +"CANDIDIASIS, FAMILIAL, 5", "IL17RA" +"CANDIDIASIS, FAMILIAL, 6", "IL17F" +"CANDIDIASIS, FAMILIAL, 7", "STAT1" +"CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION", "RASA1" +"CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO", "CPS1" +"CARBOXYPEPTIDASE N DEFICIENCY ", "CPN1" +"CARCINOID TUMORS, INTESTINAL ", "SDHD" +"CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED", "ANK2" +"CARDIAC VALVULAR DYSPLASIA, X-LINKED", "FLNA" +"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY", "SCO2" +"CARDIOFACIOCUTANEOUS SYNDROME", "BRAF" +"CARDIOFACIOCUTANEOUS SYNDROME", "MAP2K1" +"CARDIOFACIOCUTANEOUS SYNDROME", "KRAS" +"CARDIOFACIOCUTANEOUS SYNDROME", "MAP2K2" +"CARDIOMYOPATHY, DILATED, 1C", "LDB3" +"CARDIOMYOPATHY, DILATED, 1AA", "ACTN2" +"CARDIOMYOPATHY, DILATED, 1BB", "DSG2" +"CARDIOMYOPATHY, DILATED, 1CC", "NEXN" +"CARDIOMYOPATHY, DILATED, 1D", "TNNT2" +"CARDIOMYOPATHY, DILATED, 1DD", "RBM20" +"CARDIOMYOPATHY, DILATED, 1E", "SCN5A" +"CARDIOMYOPATHY, DILATED, 1EE", "MYH6" +"CARDIOMYOPATHY, DILATED, 1FF", "TNNI3" +"CARDIOMYOPATHY, DILATED, 1G", "TTN" +"CARDIOMYOPATHY, DILATED, 1GG", "SDHA" +"CARDIOMYOPATHY, DILATED, 1HH", "BAG3" +"CARDIOMYOPATHY, DILATED, 1I", "DES" +"CARDIOMYOPATHY, DILATED, 1J", "EYA4" +"CARDIOMYOPATHY, DILATED, 1L", "SGCD" +"CARDIOMYOPATHY, DILATED, 1M", "CSRP3" +"CARDIOMYOPATHY, DILATED, 1N", "TCAP" +"CARDIOMYOPATHY, DILATED, 1O", "ABCC9" +"CARDIOMYOPATHY, DILATED, 1P", "PLN" +"CARDIOMYOPATHY, DILATED, 1R", "ACTC1" +"CARDIOMYOPATHY, DILATED, 1S", "MYH7" +"CARDIOMYOPATHY, DILATED, 1T", "TMPO" +"CARDIOMYOPATHY, DILATED, 1U", "PSEN1" +"CARDIOMYOPATHY, DILATED, 1V", "PSEN2" +"CARDIOMYOPATHY, DILATED, 1W", "VCL" +"CARDIOMYOPATHY, DILATED, 1X", "FKTN" +"CARDIOMYOPATHY, DILATED, 1Y", "TPM1" +"CARDIOMYOPATHY, DILATED, 1Z", "TNNC1" +"CARDIOMYOPATHY, DILATED, 2A", "TNNI3" +"CARDIOMYOPATHY, DILATED, 2B", "GATAD1" +"CARDIOMYOPATHY, DILATED, 3B", "DMD" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17", "JPH2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6", "PRKAG2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "SLC25A4" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "MYH7" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "CAV3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "MYLK2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10", "MYL2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11", "ACTC1" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12", "CSRP3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13", "TNNC1" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14", "MYH6" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15", "VCL" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16", "MYOZ2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18", "PLN" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19", "CALR3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2", "TNNT2" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20", "NEXN" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3", "TPM1" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4", "MYBPC3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7", "TNNI3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8", "MYL3" +"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9", "TTN" +"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1", "TNNI3" +"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3", "TNNT2" +"CARNEY COMPLEX VARIANT ", "MYH8" +"CARNEY COMPLEX, TYPE 1", "PRKAR1A" +"CARNITINE DEFICIENCY, SYSTEMIC PRIMARY", "SLC22A5" +"CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY", "SLC25A20" +"CAROTID INTIMAL MEDIAL THICKNESS 1", "PPARG" +"CARPAL TUNNEL SYNDROME", "TTR" +"CARPENTER SYNDROME 1", "RAB23" +"CARTILAGE-HAIR HYPOPLASIA", "RMRP" +"CATARACT, COPPOCK-LIKE", "CRYBB2" +"CATARACT, COPPOCK-LIKE", "CRYGC" +"CATARACT, LAMELLAR", "HSF4" +"CATARACT, AGE-RELATED CORTICAL, 2", "EPHA2" +"CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 ", "BFSP2" +"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2", "FYCO1" +"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4", "TDRD7" +"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5", "AGK" +"CATARACT, CONGENITAL, CERULEAN TYPE, 2", "CRYBB2" +"CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2", "CRYBB3" +"CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3", "CRYBB1" +"CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES", "CRYBA1" +"CATARACT, CONGENITAL, X-LINKED", "NHS" +"CATARACT, CONGENITAL, CERULEAN TYPE, 3", "CRYGD" +"CATARACT, CORTICAL, JUVENILE-ONSET ", "BFSP1" +"CATARACT, CRYSTALLINE ACULEIFORM", "CRYGD" +"CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA", "SLC16A12" +"CATARACT, LAMELLAR 2 ", "CRYBA4" +"CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT", "CRYGD" +"CATARACT, POSTERIOR POLAR, 2", "CRYAB" +"CATARACT, POSTERIOR POLAR, 1", "EPHA2" +"CATARACT, POSTERIOR POLAR, 3", "CHMP4B" +"CATARACT, POSTERIOR POLAR, 4", "PITX3" +"CATARACT, PULVERULENT, JUVENILE-ONSET", "MAF" +"CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES", "CRYBB2" +"CATARACT, ZONULAR PULVERULENT 1", "GJA8" +"CATARACT, ZONULAR PULVERULENT 3", "GJA3" +"CATARACT-MICROCORNEA SYNDROME", "GJA8" +"CAUDAL DUPLICATION ANOMALY ", "AXIN1" +"SACRAL DEFECT WITH ANTERIOR MENINGOCELE", "VANGL1" +"CEREBRAL CAVERNOUS MALFORMATIONS", "CCM1" +"CENANI-LENZ SYNDACTYLY SYNDROME", "LRP4" +"CENTRAL CORE DISEASE OF MUSCLE", "RYR1" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "ASCL1" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "BDNF" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "EDN3" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "RET" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "GDNF" +"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "PMX2B" +"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3", "CA8" +"ACERULOPLASMINEMIA", "CP" +"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2", "WDR81" +"CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION", "CAMTA1" +"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1", "VLDLR" +"CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED", "CST3" +"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED", "APP" +"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY", "NOTCH3" +"CEREBRAL CAVERNOUS MALFORMATIONS 3", "PDCD10" +"CEREBRAL CAVERNOUS MALFORMATIONS 2", "C7orf22" +"CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME", "SNAP29" +"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1", "GAD1" +"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2", "KANK1" +"CEREBROOCULOFACIOSKELETAL SYNDROME 1", "ERCC6" +"CEREBROOCULOFACIOSKELETAL SYNDROME 2", "ERCC2" +"CEREBROOCULOFACIOSKELETAL SYNDROME 4", "ERCC1" +"CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS", "CTC1" +"CEREBROTENDINOUS XANTHOMATOSIS", "CYP27A1" +"CEROID LIPOFUSCINOSIS, NEURONAL, 1", "PPT1" +"CEROID LIPOFUSCINOSIS, NEURONAL, 10", "CTSD" +"CEROID LIPOFUSCINOSIS, NEURONAL, 11", "GRN" +"CEROID LIPOFUSCINOSIS, NEURONAL, 2", "TPP1" +"CEROID LIPOFUSCINOSIS, NEURONAL, 3", "CLN3" +"CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT", "DNAJC5" +"CEROID LIPOFUSCINOSIS, NEURONAL, 5", "CLN5" +"CEROID LIPOFUSCINOSIS, NEURONAL, 6", "CLN6" +"CEROID LIPOFUSCINOSIS, NEURONAL, 7", "MFSD8" +"CEROID LIPOFUSCINOSIS, NEURONAL, 8", "CLN8" +"CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT", "CLN8" +"CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE", "CLN6" +"CERVICAL CANCER ", "FGFR3" +"CHANARIN-DORFMAN SYNDROME", "ABHD5" +"CHAR SYNDROME", "TFAP2B" +"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5", "PRPS1" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O", "DYNC1H1" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F", "HSPB1" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K", "GDAP1" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L", "HSPB8" +"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B", "DNM2" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE", "GDAP1" +"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C", "YARS" +"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D", "MPZ" +"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E", "INF2" +"VERTICAL TALUS, CONGENITAL", "HOXD10" +"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A", "GDAP1" +"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B", "KARS" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A", "PMP22" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B", "MPZ" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C", "LITAF" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D", "EGR2" +"CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS", "PMP22" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F", "NEFL" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1", "KIF1B" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2", "MFN2" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B", "RAB7" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1", "LMNA" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2", "MED25" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D", "GARS" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E", "NEFL" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I", "MPZ" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J", "MPZ" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A", "GDAP1" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1", "MTMR2" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2", "SBF2" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C", "SH3TC2" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D", "NDRG1" +"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F", "PRX" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H", "FGD4" +"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J", "FIG4" +"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1", "GJB1" +"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P", "LRSAM1" +"CHEDIAK-HIGASHI SYNDROME", "CHS1" +"CHERUBISM", "SH3BP2" +"CHILBLAIN LUPUS 2", "SAMHD1" +"CHILBLAIN LUPUS 1", "TREX1" +"DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL", "SLC26A3" +"CHOANAL ATRESIA AND LYMPHEDEMA ", "PTPN14" +"CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2", "ABCB11" +"CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1", "ATP8B1" +"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1", "ATP8B1" +"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3", "ABCB4" +"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1", "ATP8B1" +"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2", "ABCB11" +"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3", "ABCB4" +"LYSOSOMAL ACID LIPASE DEFICIENCY", "LIPA" +"CHONDROCALCINOSIS 2", "ANKH" +"CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT", "EBP" +"CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE", "ARSE" +"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2", "GNPAT" +"CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE", "IMPAD1" +"CHONDRODYSPLASIA, BLOMSTRAND TYPE", "PTHR1" +"CHONDRODYSPLASIA, GREBE TYPE", "GDF5" +"CHONDROSARCOMA ", "EXT1" +"CHONDROSARCOMA, EXTRASKELETAL MYXOID", "CSMF" +"CHOREA, BENIGN HEREDITARY", "NKX2-1" +"CHOREOACANTHOCYTOSIS", "VPS13A" +"CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS", "NKX2-1" +"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2", "PRPH2" +"PAPILLOMA OF CHOROID PLEXUS", "TP53" +"CHOROIDEREMIA", "CHM" +"CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES ", "BMPR1B" +"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I", "NCF1" +"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II", "NCF2" +"GRANULOMATOUS DISEASE, CHRONIC, X-LINKED", "CYBB" +"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE", "CYBA" +"CHUDLEY-MCCULLOUGH SYNDROME", "GPSM2" +"CHYLOMICRON RETENTION DISEASE", "SAR1B" +"CILIARY DYSKINESIA, PRIMARY, 1", "DNAI1" +"CILIARY DYSKINESIA, PRIMARY, 10", "KTU" +"CILIARY DYSKINESIA, PRIMARY, 11", "RSPH4A" +"CILIARY DYSKINESIA, PRIMARY, 12", "RSPH9" +"CILIARY DYSKINESIA, PRIMARY, 13", "LRRC50" +"CILIARY DYSKINESIA, PRIMARY, 14", "CCDC39" +"CILIARY DYSKINESIA, PRIMARY, 15", "CCDC40" +"CILIARY DYSKINESIA, PRIMARY, 16", "DNAL1" +"CILIARY DYSKINESIA, PRIMARY, 17", "CCDC103" +"CILIARY DYSKINESIA, PRIMARY, 18", "HEATR2" +"CILIARY DYSKINESIA, PRIMARY, 19", "LRRC6" +"CILIARY DYSKINESIA, PRIMARY, 2", "DNAAF3" +"CILIARY DYSKINESIA, PRIMARY, 3", "DNAH5" +"CILIARY DYSKINESIA, PRIMARY, 5", "HYDIN" +"CILIARY DYSKINESIA, PRIMARY, 6", "TXNDC3" +"CILIARY DYSKINESIA, PRIMARY, 7", "DNAH11" +"CILIARY DYSKINESIA, PRIMARY, 9", "DNAI2" +"NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS", "CIRH1A" +"CITRULLINEMIA, CLASSIC", "ASS1" +"CITRULLINEMIA, TYPE II, ADULT-ONSET", "SLC25A13" +"CITRULLINEMIA, TYPE II, NEONATAL-ONSET", "SLC25A13" +"CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME", "HVEC" +"CLEFT PALATE, ISOLATED", "SATB2" +"CLEFT PALATE, X-LINKED", "TBX22" +"CLEIDOCRANIAL DYSPLASIA", "RUNX2" +"DRUG METABOLISM, POOR, CYP2C19-RELATED", "CYP2C" +"CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY", "PITX1" +"COCKAYNE SYNDROME, TYPE A", "ERCC8" +"COCKAYNE SYNDROME, TYPE B", "ERCC6" +"COCOON SYNDROME", "CHUK" +"COENZYME Q10 DEFICIENCY, PRIMARY, 1", "COQ2" +"COENZYME Q10 DEFICIENCY, PRIMARY, 2", "PDSS1" +"COENZYME Q10 DEFICIENCY, PRIMARY, 3", "PDSS2" +"COENZYME Q10 DEFICIENCY, PRIMARY, 4", "CABC1" +"COENZYME Q10 DEFICIENCY, PRIMARY, 5", "COQ9" +"COENZYME Q10 DEFICIENCY, PRIMARY, 6", "COQ6" +"COFFIN-LOWRY SYNDROME", "RPS6KA3" +"COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA", "SCN8A" +"COHEN SYNDROME", "COH1" +"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1", "NLRP3" +"COLD-INDUCED SWEATING SYNDROME 2", "CLCF1" +"COLD-INDUCED SWEATING SYNDROME 1", "CRLF1" +"COLOBOMA OF OPTIC NERVE", "PAX6" +"COLOBOMA, OCULAR", "PAX6" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7", "MLH3" +"COLORECTAL CANCER", "FGFR3" +"COLORECTAL CANCER", "AKT1" +"COLORECTAL CANCER", "NRAS" +"COLORECTAL CANCER", "ODC1" +"COLORECTAL CANCER", "CCND1" +"COLORECTAL CANCER", "PIK3CA" +"COLORECTAL CANCER", "PLA2G2A" +"COLORECTAL CANCER", "TP53" +"COLORECTAL CANCER", "PTPRJ" +"COLORECTAL CANCER", "EP300" +"COLORECTAL CANCER", "BUB1B" +"COLORECTAL CANCER", "TLR2" +"COLORECTAL CANCER", "TLR4" +"COLORECTAL CANCER", "AURKA" +"COLORECTAL CANCER", "BCL10" +"COLORECTAL CANCER", "AXIN2" +"COLORECTAL CANCER", "MLH3" +"COLORECTAL CANCER", "PDGFRL" +"COLORECTAL CANCER", "FLCN" +"COLORECTAL CANCER", "APC" +"COLORBLINDNESS, PARTIAL, DEUTAN SERIES", "OPN1MW" +"COLORBLINDNESS, PARTIAL, PROTAN SERIES", "OPN1LW" +"TRITANOPIA", "OPN1SW" +"PILOMATRIXOMA", "CTNNB1" +"PILOMATRIXOMA", "MUTYH" +"LYNCH SYNDROME I", "MSH2" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2", "MLH1" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4", "PMS2" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5", "MSH6" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6", "TGFBR2" +"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8", "EPCAM" +"COMBINED SAPOSIN DEFICIENCY", "PSAP" +"COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS", "RAG1" +"COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS", "RAG2" +"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1", "LMAN1" +"HYPERLIPIDEMIA, FAMILIAL COMBINED", "LPL" +"COMBINED IMMUNODEFICIENCY, X-LINKED", "IL2RG" +"COMBINED MALONIC AND METHYLMALONIC ACIDURIA", "ACSF3" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1", "GFM1" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10", "MTO1" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11", "RMND1" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12", "EARS2" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13", "PNPT1" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14", "FARS2" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15", "MTFMT" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2", "MRPS16" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3", "TSFM" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4", "TUFM" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5", "MRPS22" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6", "AIFM1" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7", "C12orf65" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8", "AARS2" +"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9", "MRPL3" +"COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF ", "C1NH" +"COMPLEMENT FACTOR D DEFICIENCY", "CFD" +"COMPLEMENT FACTOR H DEFICIENCY", "HF1" +"COMPLEMENT FACTOR I DEFICIENCY", "CFI" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS1" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFV1" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFA1" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFV2" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS4" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS2" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFB3" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS3" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS6" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF1" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF2" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF4" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF5" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFA11" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF3" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NUBPL" +"MITOCHONDRIAL COMPLEX I DEFICIENCY", "FOXRED1" +"CONE DYSTROPHY 4", "PDE6C" +"CONE DYSTROPHY 3", "GUCA1A" +"CONE-ROD DYSTROPHY 10", "SEMA4A" +"CONE-ROD DYSTROPHY 11", "RAXL1" +"CONE-ROD DYSTROPHY 12", "PROM1" +"CONE-ROD DYSTROPHY 13", "RPGRIP1" +"CONE-ROD DYSTROPHY 15", "CDHR1" +"CONE-ROD DYSTROPHY 16", "C8orf37" +"CONE-ROD DYSTROPHY 3", "ABCA4" +"CONE-ROD DYSTROPHY 5", "PITPNM3" +"CONE-ROD DYSTROPHY 6", "GUCY2D" +"CONE-ROD DYSTROPHY 7", "RIMS1" +"CONE-ROD DYSTROPHY 9", "ADAM9" +"LEBER CONGENITAL AMAUROSIS 4", "AIPL1" +"CONE-ROD DYSTROPHY, X-LINKED, 3", "CACNA1F" +"CONE-ROD DYSTROPHY, X-LINKED, 1", "RPGR" +"CONE-ROD DYSTROPHY 2", "CRX" +"VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF", "CFTR" +"CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY", "CTDP1" +"CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION", "SLC33A1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa", "MGAT2" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb", "GCS1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc", "SLC35C1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId", "B4GALT1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe", "COG7" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf", "SLC35A1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "COG1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh", "COG8" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi", "COG5" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj", "COG4" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk", "TMEM165" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl", "COG6" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia", "PMM2" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib", "MPI" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic", "ALG6" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id", "ALG3" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie", "DPM1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If", "MPDU1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig", "ALG12" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih", "ALG8" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii", "ALG2" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij", "DPAGT1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik", "ALG1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il", "ALG9" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im", "TMEM15" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In", "RFT1" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io", "DPM3" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip", "ALG11" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq", "SRD5A3" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir", "DDOST" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is", "ALG13" +"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It", "PGM1" +"HETEROTAXY, VISCERAL, 1, X-LINKED", "ZIC3" +"CHROMOSOME 6q24-q25 DELETION SYNDROME ", "TAB2" +"COSTELLO SYNDROME", "HRAS" +"PLASMINOGEN DEFICIENCY, TYPE I", "PLG" +"CONOTRUNCAL HEART MALFORMATIONS", "NKX2-5" +"CONOTRUNCAL HEART MALFORMATIONS", "GATA6" +"CONOTRUNCAL HEART MALFORMATIONS", "TBX1" +"CONOTRUNCAL HEART MALFORMATIONS", "GDF1" +"CONOTRUNCAL HEART MALFORMATIONS", "CFC1" +"CONOTRUNCAL HEART MALFORMATIONS", "NKX2-6" +"ARTHROGRYPOSIS, DISTAL, TYPE 9", "FBN2" +"CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS", "PRRT2" +"COPROPORPHYRIA, HEREDITARY", "CPOX" +"CORNEA PLANA 2", "KERA" +"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2", "COL8A2" +"CORNEAL DYSTROPHY, AVELLINO TYPE", "TGFBI" +"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1", "COL8A2" +"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4", "SLC4A11" +"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6", "ZEB1" +"CORNEAL DYSTROPHY, GROENOUW TYPE I", "TGFBI" +"CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I", "TGFBI" +"CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II", "TGFBI" +"CORNEAL DYSTROPHY, CONGENITAL STROMAL", "DCN" +"CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER", "UBIAD1" +"CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE", "TGFBI" +"CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE", "TACSTD2" +"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1", "VSX1" +"CORNEAL DYSTROPHY, LATTICE TYPE I", "TGFBI" +"CORNEAL DYSTROPHY, LATTICE TYPE IIIA", "TGFBI" +"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3", "ZEB1" +"CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE", "SLC4A11" +"CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS", "SLC4A11" +"CORNEAL DYSTROPHY, FLECK", "PIKFYVE" +"CORNELIA DE LANGE SYNDROME 1", "NIPBL" +"CORNELIA DE LANGE SYNDROME 2", "DXS423E" +"CORNELIA DE LANGE SYNDROME 3", "CSPG6" +"CORNELIA DE LANGE SYNDROME 4", "RAD21" +"CORNELIA DE LANGE SYNDROME 5", "HDAC8" +"CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA", "IGBP1" +"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED ", "L1CAM" +"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS", "TUBB3" +"CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME", "CNTNAP2" +"CORTICAL MALFORMATIONS, OCCIPITAL", "LAMC3" +"CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY", "CBG" +"CORTISONE REDUCTASE DEFICIENCY 1", "H6PD" +"CORTISONE REDUCTASE DEFICIENCY 2", "HSD11B1" +"COUMARIN RESISTANCE", "CYP2A6" +"COUMARIN RESISTANCE", "F9" +"COUMARIN RESISTANCE", "CYP2C9" +"COUMARIN RESISTANCE", "VKORC1" +"COUSIN SYNDROME", "TBX15" +"COWDEN DISEASE", "PTEN" +"COWDEN-LIKE SYNDROME ", "SDHB" +"COWDEN-LIKE SYNDROME ", "SDHD" +"CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT", "SOST" +"CRANIOECTODERMAL DYSPLASIA 1", "IFT122" +"CRANIOECTODERMAL DYSPLASIA 2", "WDR35" +"CRANIOECTODERMAL DYSPLASIA 3", "IFT43" +"CRANIOECTODERMAL DYSPLASIA 4", "WDR19" +"CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME", "VSX1" +"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME", "TMCO1" +"CRANIOFACIAL-DEAFNESS-HAND SYNDROME", "PAX3" +"CRANIOFRONTONASAL SYNDROME", "EFNB1" +"CRANIOLENTICULOSUTURAL DYSPLASIA", "SEC23A" +"CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT", "ANKH" +"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1", "HPGD" +"CRANIOSYNOSTOSIS AND DENTAL ANOMALIES", "IL11RA" +"RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES", "CYP26B1" +"CRANIOSYNOSTOSIS, TYPE 1", "TWIST1" +"CRANIOSYNOSTOSIS, TYPE 2", "MSX2" +"CREATINE DEFICIENCY SYNDROME, X-LINKED", "SLC6A8" +"CREATINE PHOSPHOKINASE, ELEVATED SERUM", "CAV3" +"CREUTZFELDT-JAKOB DISEASE", "PRNP" +"CREUTZFELDT-JAKOB DISEASE", "HLA-DQB1" +"CRIGLER-NAJJAR SYNDROME, TYPE I", "UGT1A1" +"CRIGLER-NAJJAR SYNDROME, TYPE II", "UGT1A1" +"CRISPONI SYNDROME", "CRLF1" +"CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS", "FGFR3" +"CROUZON SYNDROME", "FGFR2" +"CRYPTORCHIDISM, UNILATERAL OR BILATERAL", "INSL3" +"CRYPTORCHIDISM, UNILATERAL OR BILATERAL", "LGR8" +"CURRARINO SYNDROME", "MNX1" +"CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL", "ATR" +"CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES", "LTBP4" +"CUTIS LAXA, AUTOSOMAL DOMINANT 1", "ELN" +"CUTIS LAXA, AUTOSOMAL DOMINANT 2", "FBLN5" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA", "FBLN5" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB", "EFEMP2" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA", "ATP6V0A2" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB", "PYCR1" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA", "ALDH18A1" +"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB", "PYCR1" +"CYANOSIS, TRANSIENT NEONATAL", "HBG2" +"CYLINDROMATOSIS, FAMILIAL", "CYLD" +"CYSTATHIONINURIA", "CTH" +"CYSTIC FIBROSIS", "TGFB1" +"CYSTIC FIBROSIS", "CFTR" +"CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE", "CTNS" +"CYSTINOSIS, NEPHROPATHIC", "CTNS" +"CYSTINOSIS, ADULT NONNEPHROPATHIC", "CTNS" +"CYSTINURIA", "SLC3A1" +"CYSTINURIA", "SLC7A9" +"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "COX6B1" +"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "FASTKD2" +"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "C2orf64" +"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "C12orf62" +"D-2-HYDROXYGLUTARIC ACIDURIA 2", "IDH2" +"D-2-HYDROXYGLUTARIC ACIDURIA 1", "D2HGDH" +"D-BIFUNCTIONAL PROTEIN DEFICIENCY", "HSD17B4" +"D-GLYCERIC ACIDURIA", "GLYCTK" +"DANON DISEASE", "LAMP2" +"DARIER-WHITE DISEASE", "ATP2A2" +"DE SANCTIS-CACCHIONE SYNDROME ", "ERCC6" +"DEAFNESS, X-LINKED 1", "PRPS1" +"DEAFNESS, X-LINKED 2", "POU3F4" +"DEAFNESS, X-LINKED 4", "SMPX" +"DEAFNESS, AUTOSOMAL DOMINANT 1", "DIAPH1" +"DEAFNESS, AUTOSOMAL DOMINANT 10", "EYA4" +"DEAFNESS, AUTOSOMAL DOMINANT 11", "MYO7A" +"DEAFNESS, AUTOSOMAL DOMINANT 13", "COL11A2" +"DEAFNESS, AUTOSOMAL DOMINANT 15", "POU4F3" +"DEAFNESS, AUTOSOMAL DOMINANT 17", "MYH9" +"DEAFNESS, AUTOSOMAL DOMINANT 20", "ACTG1" +"DEAFNESS, AUTOSOMAL DOMINANT 22", "MYO6" +"DEAFNESS, AUTOSOMAL DOMINANT 23", "SIX1" +"DEAFNESS, AUTOSOMAL DOMINANT 25", "SLC17A8" +"DEAFNESS, AUTOSOMAL DOMINANT 28", "GRHL2" +"DEAFNESS, AUTOSOMAL DOMINANT 2A", "KCNQ4" +"DEAFNESS, AUTOSOMAL DOMINANT 2B", "GJB3" +"DEAFNESS, AUTOSOMAL DOMINANT 36", "TMC1" +"DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1", "DSPP" +"DEAFNESS, AUTOSOMAL DOMINANT 3A", "GJB2" +"DEAFNESS, AUTOSOMAL DOMINANT 3B", "GJB6" +"DEAFNESS, AUTOSOMAL DOMINANT 44", "CCDC50" +"DEAFNESS, AUTOSOMAL DOMINANT 48", "MYO1A" +"DEAFNESS, AUTOSOMAL DOMINANT 4A", "MYH14" +"DEAFNESS, AUTOSOMAL DOMINANT 4B", "CEACAM16" +"DEAFNESS, AUTOSOMAL DOMINANT 5", "DFNA5" +"DEAFNESS, AUTOSOMAL DOMINANT 50", "MIR96" +"DEAFNESS, AUTOSOMAL DOMINANT 6", "WFS1" +"DEAFNESS, AUTOSOMAL DOMINANT 64", "SMAC" +"DEAFNESS, AUTOSOMAL DOMINANT 12", "TECTA" +"DEAFNESS, AUTOSOMAL DOMINANT 9", "COCH" +"DEAFNESS, AUTOSOMAL RECESSIVE 10", "TMPRSS3" +"DEAFNESS, AUTOSOMAL RECESSIVE 12", "ATP2B2" +"DEAFNESS, AUTOSOMAL RECESSIVE 12", "CDH23" +"DEAFNESS, AUTOSOMAL RECESSIVE 15", "GIPC3" +"DEAFNESS, AUTOSOMAL RECESSIVE 16", "STRC" +"DEAFNESS, AUTOSOMAL RECESSIVE 18A", "USH1C" +"DEAFNESS, AUTOSOMAL RECESSIVE 18B", "OTOG" +"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB2" +"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB3" +"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB6" +"DEAFNESS, AUTOSOMAL RECESSIVE 1B", "GJB6" +"DEAFNESS, AUTOSOMAL RECESSIVE 2", "MYO7A" +"DEAFNESS, AUTOSOMAL RECESSIVE 21", "TECTA" +"DEAFNESS, AUTOSOMAL RECESSIVE 22", "OTOA" +"DEAFNESS, AUTOSOMAL RECESSIVE 23", "PCDH15" +"DEAFNESS, AUTOSOMAL RECESSIVE 24", "RDX" +"DEAFNESS, AUTOSOMAL RECESSIVE 25", "GRXCR1" +"DEAFNESS, AUTOSOMAL RECESSIVE 28", "TRIOBP" +"DEAFNESS, AUTOSOMAL RECESSIVE 29", "CLDN14" +"DEAFNESS, AUTOSOMAL RECESSIVE 3", "MYO15A" +"DEAFNESS, AUTOSOMAL RECESSIVE 30", "MYO3A" +"DEAFNESS, AUTOSOMAL RECESSIVE 31", "WHRN" +"DEAFNESS, AUTOSOMAL RECESSIVE 35", "ESRRB" +"DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT", "ESPN" +"DEAFNESS, AUTOSOMAL RECESSIVE 37", "MYO6" +"DEAFNESS, AUTOSOMAL RECESSIVE 39", "HGF" +"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "FOXI1" +"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "KCNJ10" +"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "SLC26A4" +"DEAFNESS, AUTOSOMAL RECESSIVE 42", "ILDR1" +"DEAFNESS, AUTOSOMAL RECESSIVE 48", "CIB2" +"DEAFNESS, AUTOSOMAL RECESSIVE 49", "MARVELD2" +"DEAFNESS, AUTOSOMAL RECESSIVE 53", "COL11A2" +"DEAFNESS, AUTOSOMAL RECESSIVE 59", "PJVK" +"DEAFNESS, AUTOSOMAL RECESSIVE 6", "TMIE" +"DEAFNESS, AUTOSOMAL RECESSIVE 61", "SLC26A5" +"DEAFNESS, AUTOSOMAL RECESSIVE 63", "LRTOMT" +"DEAFNESS, AUTOSOMAL RECESSIVE 67", "LHFPL5" +"DEAFNESS, AUTOSOMAL RECESSIVE 7", "TMC1" +"DEAFNESS, AUTOSOMAL RECESSIVE 70", "PNPT1" +"DEAFNESS, AUTOSOMAL RECESSIVE 74", "MSRB3" +"DEAFNESS, AUTOSOMAL RECESSIVE 77", "LOXHD1" +"DEAFNESS, AUTOSOMAL RECESSIVE 79", "TPRN" +"DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8", "TMPRSS3" +"DEAFNESS, AUTOSOMAL RECESSIVE 84A", "PTPRQ" +"DEAFNESS, AUTOSOMAL RECESSIVE 84B", "OTOGL" +"DEAFNESS, AUTOSOMAL RECESSIVE 91", "SERPINB6" +"DEAFNESS, AUTOSOMAL RECESSIVE 93", "CABP2" +"DEAFNESS, AUTOSOMAL RECESSIVE 98", "TSPEAR" +"DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA", "FGF3" +"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "EGR2" +"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "MPZ" +"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "PMP22" +"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "PRX" +"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBB" +"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBG1" +"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBG2" +"DEMENTIA, LEWY BODY", "SNCA" +"DEMENTIA, LEWY BODY", "SNCB" +"DEMENTIA, LEWY BODY", "GBA" +"CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1", "ITM2B" +"CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2", "ITM2B" +"FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED", "CHMP2B" +"FRONTOTEMPORAL DEMENTIA", "PSEN1" +"FRONTOTEMPORAL DEMENTIA", "MAPT" +"DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY", "GATA2" +"DENT DISEASE 2 ", "OCRL" +"DENT DISEASE 1", "CLCN5" +"DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY", "ATN1" +"DENTIN DYSPLASIA, TYPE I", "SMOC2" +"DENTIN DYSPLASIA, TYPE II", "DSPP" +"DENTINOGENESIS IMPERFECTA 1", "DSPP" +"DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III", "DSPP" +"DENYS-DRASH SYNDROME", "WT1" +"DERMATOPATHIA PIGMENTOSA RETICULARIS", "KRT14" +"DESBUQUOIS DYSPLASIA", "CANT1" +"DESMOID DISEASE, HEREDITARY", "APC" +"DESMOSTEROLOSIS ", "DHCR24" +"DIGEORGE SYNDROME", "TBX1" +"DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL", "AQP2" +"DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED", "AVPR2" +"DIABETES INSIPIDUS, NEUROHYPOPHYSEAL", "AVP" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2", "GCK" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 2", "INS" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 20", "HNF1A" +"DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS", "INSR" +"DIABETES MELLITUS, KETOSIS-PRONE", "PAX4" +"DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM", "GLIS3" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GCGR" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GCK" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "SLC2A4" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GPD2" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF1A" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IRS1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "LIPC" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "AKT2" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PAX4" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "ENPP1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PTPN1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF1B" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF4A" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "ABCC8" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HMGA1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IPF1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IRS2" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "MTNR1B" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "KCNJ11" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PPARG" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "NEUROD1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "TCF7L2" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "MAPK8IP1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "RETN" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "WFS1" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IGF2BP2" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "SLC30A8" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "CDKAL1" +"DIABETES MELLITUS, PERMANENT NEONATAL", "GCK" +"DIABETES MELLITUS, PERMANENT NEONATAL", "INS" +"DIABETES MELLITUS, PERMANENT NEONATAL", "ABCC8" +"DIABETES MELLITUS, PERMANENT NEONATAL", "KCNJ11" +"PANCREATIC AND CEREBELLAR AGENESIS", "PTF1A" +"DIABETES MELLITUS, TRANSIENT NEONATAL, 2", "ABCC8" +"DIABETES MELLITUS, TRANSIENT NEONATAL, 1", "ZFP57" +"DIABETES MELLITUS, TRANSIENT NEONATAL, 3", "KCNJ11" +"DIAMOND-BLACKFAN ANEMIA", "RPS19" +"DIAMOND-BLACKFAN ANEMIA 10", "RPS26" +"DIAMOND-BLACKFAN ANEMIA 11", "RPL26" +"DIAMOND-BLACKFAN ANEMIA 4", "RPS17" +"DIAMOND-BLACKFAN ANEMIA 5", "RPL35A" +"DIAMOND-BLACKFAN ANEMIA 6", "RPL5" +"DIAMOND-BLACKFAN ANEMIA 7", "RPL11" +"DIAMOND-BLACKFAN ANEMIA 8", "RPS7" +"DIAMOND-BLACKFAN ANEMIA 9", "RPS10" +"DIAMOND-BLACKFAN ANEMIA 3", "RPS24" +"DIAPHANOSPONDYLODYSOSTOSIS", "BMPER" +"DIAPHRAGMATIC HERNIA 3", "ZFPM2" +"DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA", "MTAP" +"DIARRHEA 3, SECRETORY SODIUM, CONGENITAL", "SPINT2" +"DIARRHEA 4, MALABSORPTIVE, CONGENITAL", "NEUROG3" +"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL", "EPCAM" +"DIARRHEA 6", "GUCY2C" +"DIASTROPHIC DYSPLASIA", "SLC26A2" +"DIGITAL CLUBBING, ISOLATED CONGENITAL", "HPGD" +"DIHYDROPYRIMIDINASE DEFICIENCY", "DPYS" +"CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA", "DSP" +"DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY", "DMGDH" +"DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY", "POR" +"DONNAI-BARROW SYNDROME", "LRP2" +"DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL", "DBH" +"DOWLING-DEGOS DISEASE", "KRT5" +"DOYNE HONEYCOMB RETINAL DYSTROPHY", "EFEMP1" +"DRAVET SYNDROME", "SCN1A" +"DRAVET SYNDROME", "SCN9A" +"DUANE RETRACTION SYNDROME 2", "CHN1" +"DUANE-RADIAL RAY SYNDROME", "SALL4" +"DUBIN-JOHNSON SYNDROME", "ABCC2" +"MUSCULAR DYSTROPHY, DUCHENNE TYPE", "DMD" +"NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE", "G6PC3" +"DYGGVE-MELCHIOR-CLAUSEN DISEASE", "DYM" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "IKBKAP" +"DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1", "ADAR" +"DYSKERATOSIS CONGENITA, X-LINKED", "DKC1" +"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1", "TERC" +"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2", "TERT" +"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3", "TINF2" +"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1", "NOLA3" +"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2", "NOLA2" +"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3", "WRAP53" +"DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA", "ADCY5" +"PROTHROMBIN DEFICIENCY, CONGENITAL", "F2" +"DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE", "HSPG2" +"DYSTONIA 16", "PRKRA" +"DYSTONIA 6, TORSION", "THAP1" +"DYSTONIA 9", "SLC2A1" +"DYSTONIA, DOPA-RESPONSIVE", "GCH1" +"DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY", "SPR" +"DYSTONIA, JUVENILE-ONSET ", "ACTB" +"MYOCLONIC DYSTONIA", "DRD2" +"MYOCLONIC DYSTONIA", "SGCE" +"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT", "DYT1" +"DYSTONIA 12", "ATP1A3" +"DYSTONIA 3, TORSION, X-LINKED", "TAF1" +"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE", "COL7A1" +"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE", "MMP1" +"EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS", "COL7A1" +"EDICT SYNDROME", "MIR184" +"ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM", "CHRM3" +"ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED", "ED1" +"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT", "EDAR" +"ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE", "EDAR" +"ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT", "EDARADD" +"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE", "EDARADD" +"CLOUSTON SYNDROME", "GJB6" +"WITKOP SYNDROME", "MSX1" +"ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE", "KRT85" +"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE", "HOXC13" +"ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT ", "NFKBIA" +"EEM SYNDROME", "CDH3" +"ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY", "IKBKG" +"ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1", "PVRL4" +"ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME", "PKP1" +"ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA", "IKBKG" +"ECTOPIA LENTIS, ISOLATED, AUTOSOMAL DOMINANT", "FBN1" +"ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE", "ADAMTSL4" +"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3", "TP63" +"EFAVIRENZ, POOR METABOLISM OF", "CYP2B6" +"EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS", "FKBP14" +"EHLERS-DANLOS SYNDROME, TYPE III", "COL3A1" +"EHLERS-DANLOS SYNDROME, TYPE III", "TNXB" +"EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY", "TNXB" +"EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM ", "COL1A2" +"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE", "CHST14" +"EHLERS-DANLOS SYNDROME, PROGEROID FORM", "B4GALT7" +"EHLERS-DANLOS SYNDROME, TYPE I", "COL1A1" +"EHLERS-DANLOS SYNDROME, TYPE I", "COL5A2" +"EHLERS-DANLOS SYNDROME, TYPE I", "COL5A1" +"EHLERS-DANLOS SYNDROME, TYPE II", "COL5A1" +"EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT", "COL3A1" +"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT", "COL1A1" +"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT", "COL1A2" +"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE", "ADAMTS2" +"EIKEN SKELETAL DYSPLASIA", "PTHR1" +"ELLIPTOCYTOSIS 1", "EPB41" +"ELLIPTOCYTOSIS 2", "SPTA1" +"ELLIS-VAN CREVELD SYNDROME", "EVC" +"ELLIS-VAN CREVELD SYNDROME", "LBN" +"LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA", "GATA2" +"EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED", "EMD" +"EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT", "LMNA" +"EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT", "SYNE1" +"EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT", "SYNE2" +"MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY", "FHL1" +"ALPHA-1-ANTITRYPSIN DEFICIENCY ", "SERPINA1" +"ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION", "DNM1L" +"ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES", "SERPINI1" +"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS ", "MECP2" +"ENDOCRINE-CEREBROOSTEODYSPLASIA", "ICK" +"ENDOMETRIAL CANCER ", "CDH1" +"ENDOMETRIAL CANCER ", "MSH6" +"ENDOMETRIAL CANCER ", "PTEN" +"ENDOMETRIAL CANCER ", "MLH3" +"ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY", "COLQ" +"ENHANCED S-CONE SYNDROME", "NR2E3" +"ENTEROKINASE DEFICIENCY", "PRSS7" +"PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS", "EPX" +"EPIDERMODYSPLASIA VERRUCIFORMIS", "TMC6" +"EPIDERMODYSPLASIA VERRUCIFORMIS", "TMC8" +"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT", "COL7A1" +"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "ITGB4" +"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "KRT5" +"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "KRT14" +"EPIDERMOLYSIS BULLOSA PRURIGINOSA", "COL7A1" +"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA ", "KRT5" +"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION", "KRT5" +"EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA", "PLEC1" +"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE", "KRT5" +"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE", "KRT14" +"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED", "KRT5" +"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED", "KRT14" +"EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE", "PLEC1" +"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE ", "KRT14" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "COL17A1" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "ITGB4" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMC2" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMB3" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMA3" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMC2" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMB3" +"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMA3" +"EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA", "ITGA6" +"EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA", "ITGB4" +"EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC", "DSP" +"EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL", "COL7A1" +"EPIDERMOLYTIC HYPERKERATOSIS", "KRT1" +"EPIDERMOLYTIC HYPERKERATOSIS", "KRT10" +"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT1" +"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT16" +"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT9" +"EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS", "GRIN2A" +"EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS ", "SYN1" +"EPILEPSY, FAMILIAL TEMPORAL LOBE, 1", "LGI1" +"EPILEPSY, FAMILIAL TEMPORAL LOBE, 5", "CPA6" +"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1", "SCN1B" +"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2", "SCN1A" +"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3", "GABRG2" +"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7", "SCN9A" +"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1", "CHRNA4" +"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3", "CHRNB2" +"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4", "CHRNA2" +"MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG", "CSTB" +"EPILEPSY, PROGRESSIVE MYOCLONIC 1B", "PRICKLE1" +"MYOCLONIC EPILEPSY OF LAFORA", "EPM2A" +"MYOCLONIC EPILEPSY OF LAFORA", "NHLRC1" +"EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS", "KCTD7" +"EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE", "SCARB2" +"EPILEPSY, PROGRESSIVE MYOCLONIC 5", "PRICKLE2" +"EPILEPSY, PROGRESSIVE MYOCLONIC 6", "GOSR2" +"EPILEPSY, PYRIDOXINE-DEPENDENT", "ALDH7A1" +"EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE", "MAPK10" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1", "ARX" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10", "PNKP" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11", "SCN2A" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12", "PLCB1" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13", "SCN8A" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14", "KCNT1" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2", "CDKL5" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3", "SLC25A22" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5", "SPTAN1" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7", "KCNQ2" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8", "ARHGEF9" +"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9", "PCDH19" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 1", "COMP" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 2", "COL9A2" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3", "COL9A3" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4", "SLC26A2" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5", "MATN3" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, 6", "COL9A1" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS", "COL2A1" +"EPISODIC ATAXIA, TYPE 2", "CACNA1A" +"EPISODIC ATAXIA, TYPE 5", "CACNB4" +"EPISODIC ATAXIA, TYPE 6", "SLC1A3" +"EPISODIC ATAXIA, TYPE 1", "KCNA1" +"EPISODIC KINESIGENIC DYSKINESIA 1", "PRRT2" +"EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY", "TMLHE" +"EPSTEIN SYNDROME", "MYH9" +"ERYTHERMALGIA, PRIMARY", "SCN9A" +"ERYTHROCYTE LACTATE TRANSPORTER DEFECT", "SLC16A1" +"BISPHOSPHOGLYCERATE MUTASE DEFICIENCY", "BPGM" +"ERYTHROCYTOSIS, FAMILIAL, 2", "VHL" +"ERYTHROCYTOSIS, FAMILIAL, 3", "EGLN1" +"ERYTHROCYTOSIS, FAMILIAL, 4", "EPAS1" +"ERYTHROCYTOSIS, FAMILIAL, 1", "EPOR" +"ERYTHROCYTOSIS, FAMILIAL, 1", "JAK2" +"ERYTHROCYTOSIS, FAMILIAL, 1", "SH2B3" +"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA", "GJB3" +"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA", "GJB4" +"MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT", "CHRNG" +"ESOPHAGEAL CANCER", "TGFBR2" +"ESOPHAGEAL CANCER", "RNF6" +"ESOPHAGEAL CANCER", "WWOX" +"ESOPHAGEAL CANCER", "LZTS1" +"ENCEPHALOPATHY, ETHYLMALONIC", "ETHE1" +"EWING SARCOMA", "EWSR1" +"EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE", "CSTA" +"EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS ", "COX4I2" +"EXOSTOSES, MULTIPLE, TYPE I", "EXT1" +"EXOSTOSES, MULTIPLE, TYPE II", "EXT2" +"EXUDATIVE VITREORETINOPATHY 4", "LRP5" +"EXUDATIVE VITREORETINOPATHY 5", "TSPAN12" +"EXUDATIVE VITREORETINOPATHY 1", "FZD4" +"EXUDATIVE VITREORETINOPATHY 2, X-LINKED", "NDP" +"FG SYNDROME 2", "FLNA" +"FG SYNDROME 4", "CASK" +"FABRY DISEASE", "GLA" +"FACIAL CLEFTING, OBLIQUE, 1", "SPECC1L" +"FACIAL PARESIS, HEREDITARY CONGENITAL, 3", "HOXB1" +"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2", "MCFD2" +"FACTOR V DEFICIENCY", "F5" +"FACTOR VII DEFICIENCY", "F7" +"FACTOR X DEFICIENCY", "F10" +"FACTOR XI DEFICIENCY", "F11" +"FACTOR XII DEFICIENCY", "F12" +"FACTOR XIII, A SUBUNIT, DEFICIENCY OF ", "F13A1" +"FACTOR XIII, B SUBUNIT, DEFICIENCY OF ", "F13B" +"FAILURE OF TOOTH ERUPTION, PRIMARY", "PTHR1" +"FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT", "MEFV" +"FAMILIAL MEDITERRANEAN FEVER", "MEFV" +"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2", "NALP12" +"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3", "PLCG2" +"FANCONI ANEMIA, COMPLEMENTATION GROUP O", "RAD51C" +"FANCONI ANEMIA, COMPLEMENTATION GROUP A", "FANCA" +"FANCONI ANEMIA, COMPLEMENTATION GROUP B", "FAAP95" +"FANCONI ANEMIA, COMPLEMENTATION GROUP C", "FANCC" +"FANCONI ANEMIA, COMPLEMENTATION GROUP D1", "BRCA2" +"FANCONI ANEMIA, COMPLEMENTATION GROUP D2", "FANCD2" +"FANCONI ANEMIA, COMPLEMENTATION GROUP E", "FANCE" +"FANCONI ANEMIA, COMPLEMENTATION GROUP F", "FANCF" +"FANCONI ANEMIA, COMPLEMENTATION GROUP G", "XRCC9" +"FANCONI ANEMIA, COMPLEMENTATION GROUP I", "FANCI" +"FANCONI ANEMIA, COMPLEMENTATION GROUP J", "BRIP1" +"FANCONI ANEMIA, COMPLEMENTATION GROUP L", "PHF9" +"FANCONI ANEMIA, COMPLEMENTATION GROUP M", "FANCM" +"FANCONI ANEMIA, COMPLEMENTATION GROUP N", "PALB2" +"FANCONI ANEMIA, COMPLEMENTATION GROUP P", "SLX4" +"FANCONI RENOTUBULAR SYNDROME 2", "SLC34A1" +"FANCONI-BICKEL SYNDROME", "SLC2A2" +"FARBER LIPOGRANULOMATOSIS", "ASAH1" +"LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "HADHA" +"FAZIO-LONDE DISEASE", "SLC52A3" +"FEBRILE SEIZURES, FAMILIAL, 11", "CPA6" +"FEBRILE SEIZURES, FAMILIAL, 4", "GPR98" +"FECHTNER SYNDROME", "MYH9" +"FEINGOLD SYNDROME 2", "MIR17HG" +"FEINGOLD SYNDROME 1", "MYCN" +"FERTILE EUNUCH SYNDROME ", "GNRHR" +"FETAL AKINESIA DEFORMATION SEQUENCE", "RAPSN" +"FETAL AKINESIA DEFORMATION SEQUENCE", "DOK7" +"FIBROCHONDROGENESIS 2", "COL11A2" +"FIBROCHONDROGENESIS 1", "COL11A1" +"FIBRODYSPLASIA OSSIFICANS PROGRESSIVA", "ACVR1" +"FIBROMATOSIS, GINGIVAL, 1", "SOS1" +"FIBROMATOSIS, JUVENILE HYALINE", "ANTXR2" +"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1", "KIF21A" +"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2", "PHOX2A" +"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT", "TUBB3" +"FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY", "GDF5" +"FISH-EYE DISEASE", "LCAT" +"FLECK RETINA, FAMILIAL BENIGN", "PLA2G5" +"PREKALLIKREIN DEFICIENCY", "KLKB1" +"FLOATING-HARBOR SYNDROME", "SRCAP" +"FOCAL CORTICAL DYSPLASIA OF TAYLOR", "TSC1" +"FOCAL DERMAL HYPOPLASIA", "PORCN" +"FOLATE MALABSORPTION, HEREDITARY ", "SLC46A1" +"FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED ", "FSHB" +"FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME", "PAX6" +"MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET", "PRPH2" +"MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET", "BEST1" +"FRAGILE X MENTAL RETARDATION SYNDROME", "FMR1" +"FRAGILE X TREMOR/ATAXIA SYNDROME", "FMR1" +"FRANK-TER HAAR SYNDROME", "SH3PXD2B" +"FRASER SYNDROME", "FRAS1" +"FRASER SYNDROME", "FREM2" +"FRASIER SYNDROME ", "WT1" +"FRIEDREICH ATAXIA 1", "FXN" +"FRONTOMETAPHYSEAL DYSPLASIA", "FLNA" +"FRONTONASAL DYSPLASIA 1", "ALX3" +"FRONTONASAL DYSPLASIA 2", "ALX4" +"FRONTONASAL DYSPLASIA 3", "ALX1" +"FRUCTOSE INTOLERANCE, HEREDITARY", "ALDOB" +"FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY ", "FBP1" +"FUCOSIDOSIS", "FUCA1" +"FUCOSYLTRANSFERASE 6 DEFICIENCY ", "FUT6" +"FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY", "WNT7A" +"FUMARASE DEFICIENCY", "FH" +"FUNDUS ALBIPUNCTATUS", "PRPH2" +"FUNDUS ALBIPUNCTATUS", "RLBP1" +"FUNDUS ALBIPUNCTATUS", "RHO" +"FUNDUS ALBIPUNCTATUS", "RDH5" +"STARGARDT DISEASE 1", "ABCA4" +"STARGARDT DISEASE 1", "CNGB3" +"GABA-TRANSAMINASE DEFICIENCY ", "ABAT" +"GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY", "GAMT" +"GLUT1 DEFICIENCY SYNDROME 1", "SLC2A1" +"GLUT1 DEFICIENCY SYNDROME 2", "SLC2A1" +"GM1-GANGLIOSIDOSIS, TYPE I", "GLB1" +"GM1-GANGLIOSIDOSIS, TYPE II", "GLB1" +"GM1-GANGLIOSIDOSIS, TYPE III", "GLB1" +"GM2-GANGLIOSIDOSIS, AB VARIANT", "GM2A" +"TAY-SACHS DISEASE", "HEXA" +"GRACILE SYNDROME", "BCS1L" +"GALACTOKINASE DEFICIENCY", "GALK1" +"GALACTOSE EPIMERASE DEFICIENCY", "GALE" +"GALACTOSEMIA", "GALT" +"GALACTOSIALIDOSIS", "CTSA" +"GALLBLADDER DISEASE 1", "ABCB4" +"GALLBLADDER DISEASE 4", "ABCG8" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "IRF1" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "IL1RN" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "IL1B" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "ERBB2" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "PIK3CA" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "FGFR2" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "KRAS" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "CDH1" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "CASP10" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "KLF6" +"GASTRIC CANCER, HEREDITARY DIFFUSE", "MUTYH" +"GASTRIC CANCER", "APC" +"GASTROINTESTINAL STROMAL TUMOR", "KIT" +"GASTROINTESTINAL STROMAL TUMOR", "PDGFRA" +"GASTROINTESTINAL STROMAL TUMOR", "SDHB" +"GASTROINTESTINAL STROMAL TUMOR", "SDHC" +"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY ", "PSAP" +"GAUCHER DISEASE, PERINATAL LETHAL", "GBA" +"GAUCHER DISEASE, TYPE I", "GBA" +"GAUCHER DISEASE, TYPE II", "GBA" +"GAUCHER DISEASE, TYPE III", "GBA" +"GAUCHER DISEASE, TYPE IIIC ", "GBA" +"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS", "ROBO3" +"GELEOPHYSIC DYSPLASIA 1", "ADAMTSL2" +"GELEOPHYSIC DYSPLASIA 2", "FBN1" +"GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA", "KCNMA1" +"GENITOPATELLAR SYNDROME", "KAT6B" +"TESTICULAR GERM CELL TUMOR", "FGFR3" +"TESTICULAR GERM CELL TUMOR", "KIT" +"TESTICULAR GERM CELL TUMOR", "STK11" +"TESTICULAR GERM CELL TUMOR", "BCL10" +"GERODERMA OSTEODYSPLASTICUM", "GORAB" +"GERSTMANN-STRAUSSLER DISEASE", "PRNP" +"GHOSAL HEMATODIAPHYSEAL DYSPLASIA", "TBXAS1" +"GIANT AXONAL NEUROPATHY 1", "GAN" +"ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION", "PAX6" +"GITELMAN SYNDROME", "SLC12A3" +"GLANZMANN THROMBASTHENIA", "ITGB3" +"GLANZMANN THROMBASTHENIA", "ITGA2B" +"GLAUCOMA 1, OPEN ANGLE, O", "NTF4 " +"GLAUCOMA, PRIMARY OPEN ANGLE", "OPTN" +"GLAUCOMA 1, OPEN ANGLE, G", "WDR36" +"GLAUCOMA 1, OPEN ANGLE, A", "MYOC" +"GLAUCOMA 3, PRIMARY CONGENITAL, D", "LTBP2" +"GLAUCOMA 3, PRIMARY CONGENITAL, A", "CYP1B1" +"GLIOMA SUSCEPTIBILITY 1", "ERBB2" +"GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA ", "UMOD" +"GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2", "FN1" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1", "ACTN4" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2", "TRPC6" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO", "CD2AP" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5", "INF2" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6", "MYO1E" +"GLOMUVENOUS MALFORMATIONS", "GLML" +"GLUCOCORTICOID DEFICIENCY 2", "MRAP" +"GLUCOCORTICOID DEFICIENCY 4", "NNT" +"GLUCOCORTICOID DEFICIENCY 1", "MC2R" +"GLUCOSE/GALACTOSE MALABSORPTION", "SLC5A1" +"FORMIMINOTRANSFERASE DEFICIENCY", "FTCD" +"GLUTAMINE DEFICIENCY, CONGENITAL", "GLUL" +"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFB" +"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFDH" +"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFA" +"GLUTARIC ACIDEMIA I", "GCDH" +"GLUTATHIONE SYNTHETASE DEFICIENCY", "GSS" +"HYPERGLYCEROLEMIA", "GK" +"GLYCINE N-METHYLTRANSFERASE DEFICIENCY", "GNMT" +"GLYCINE ENCEPHALOPATHY", "GLDC" +"GLYCINE ENCEPHALOPATHY", "AMT" +"GLYCINE ENCEPHALOPATHY", "GCSH" +"GLYCOGEN STORAGE DISEASE 0, MUSCLE", "GYS1" +"GLYCOGEN STORAGE DISEASE II", "GAA" +"GLYCOGEN STORAGE DISEASE III", "AGL" +"GLYCOGEN STORAGE DISEASE IV", "GBE1" +"GLYCOGEN STORAGE DISEASE IXc", "PHKG2" +"GLYCOGEN STORAGE DISEASE Ia", "G6PC" +"GLYCOGEN STORAGE DISEASE Ib", "SLC37A4" +"GLYCOGEN STORAGE DISEASE Ic", "SLC37A4" +"GLYCOGEN STORAGE DISEASE VI", "PYGL" +"GLYCOGEN STORAGE DISEASE VII", "PFKM" +"GLYCOGEN STORAGE DISEASE X", "PGAM2" +"GLYCOGEN STORAGE DISEASE XI", "LDHA" +"GLYCOGEN STORAGE DISEASE XII", "ALDOA" +"GLYCOGEN STORAGE DISEASE XIII", "ENO3" +"GLYCOGEN STORAGE DISEASE XIV", "PGM1" +"GLYCOGEN STORAGE DISEASE XV", "GYG1" +"GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL", "PRKAG2" +"GLYCOGEN STORAGE DISEASE 0, LIVER", "GYS2" +"GLYCOGEN STORAGE DISEASE IXa1", "PHKA2" +"GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY", "PIGM" +"GNATHODIAPHYSEAL DYSPLASIA", "ANO5" +"GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS", "DICER1" +"GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME", "KIAA1279" +"PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY", "PRPS1" +"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III", "NCF4" +"GRAY PLATELET SYNDROME", "NBEAL2" +"GREIG CEPHALOPOLYSYNDACTYLY SYNDROME", "GLI3" +"GRISCELLI SYNDROME, TYPE 1", "MYO5A" +"GRISCELLI SYNDROME, TYPE 2", "RAB27A" +"GRISCELLI SYNDROME, TYPE 3", "MLPH" +"SEPTOOPTIC DYSPLASIA", "HESX1" +"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA", "GH1" +"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB", "GHRHR" +"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB", "GH1" +"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II", "GH1" +"GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY", "STAT5B" +"INSULIN-LIKE GROWTH FACTOR I DEFICIENCY", "IGF1" +"GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH", "FTO" +"PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS", "HOXA13" +"GYRATE ATROPHY OF CHOROID AND RETINA", "OAT" +"HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION", "PANK2" +"HYPOALPHALIPOPROTEINEMIA, PRIMARY", "APOA1" +"HYPOALPHALIPOPROTEINEMIA, PRIMARY", "ABCA1" +"HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA", "LBR" +"3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY", "HMGCL" +"3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY", "HMGCS2" +"KELLEY-SEEGMILLER SYNDROME", "HPRT1" +"BENIGN CHRONIC PEMPHIGUS", "ATP2C1" +"HAIM-MUNK SYNDROME", "CTSC" +"HAJDU-CHENEY SYNDROME", "NOTCH2" +"HALLERMANN-STREIFF SYNDROME", "GJA1" +"HAMAMY SYNDROME", "IRX5" +"HAND-FOOT-UTERUS SYNDROME", "HOXA13" +"HARTNUP DISORDER", "SLC6A19" +"HAWKINSINURIA ", "HPD" +"ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE", "TP63" +"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA", "SCN5A" +"HEART-HAND SYNDROME, SLOVENIAN TYPE ", "LMNA" +"HEINZ BODY ANEMIAS ", "HBA1" +"HEINZ BODY ANEMIAS ", "HBA2" +"HEINZ BODY ANEMIAS ", "HBB" +"HEMANGIOMA, CAPILLARY INFANTILE", "FLT4" +"HEMANGIOMA, CAPILLARY INFANTILE", "KDR" +"HEMANGIOMA, CAPILLARY INFANTILE", "ANTXR1" +"HEMATURIA, BENIGN FAMILIAL", "COL4A3" +"HEME OXYGENASE 1 DEFICIENCY", "HMOX1" +"HEMOCHROMATOSIS", "BMP2" +"HEMOCHROMATOSIS", "HFE" +"HEMOCHROMATOSIS, TYPE 2A", "HJV" +"HEMOCHROMATOSIS, TYPE 2B", "HAMP" +"HEMOCHROMATOSIS, TYPE 3", "TFR2" +"HEMOCHROMATOSIS, TYPE 4", "SLC40A1" +"HEMOGLOBIN H DISEASE", "HBA1" +"HEMOGLOBIN H DISEASE", "HBA2" +"ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ", "AK1" +"GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ", "GCLC" +"GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO ", "GSS" +"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY ", "HK1" +"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ", "GPI" +"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2", "PRF1" +"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3", "UNC13D" +"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4", "STX11" +"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5", "STXBP2" +"HEMOPHILIA A", "F8" +"HEMOPHILIA B", "F9" +"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS ", "JAM3" +"HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME", "CCBE1" +"HEPATIC ADENOMAS, FAMILIAL", "HNF1A" +"HEPATIC LIPASE DEFICIENCY", "LIPC" +"HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY", "SP110" +"HEPATOCELLULAR CARCINOMA", "CTNNB1" +"HEPATOCELLULAR CARCINOMA", "MET" +"HEPATOCELLULAR CARCINOMA", "PIK3CA" +"HEPATOCELLULAR CARCINOMA", "TP53" +"HEPATOCELLULAR CARCINOMA", "CASP8" +"HEPATOCELLULAR CARCINOMA", "AXIN1" +"HEPATOCELLULAR CARCINOMA", "PDGFRL" +"HEPATOCELLULAR CARCINOMA", "APC" +"HEREDITARY MOTOR AND SENSORY NEUROPATHY VI", "MFN2" +"HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE", "TFG" +"HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC", "TRPV4" +"HERMANSKY-PUDLAK SYNDROME 1", "HPS1" +"HERMANSKY-PUDLAK SYNDROME 2", "AP3B1" +"HERMANSKY-PUDLAK SYNDROME 3", "HPS3" +"HERMANSKY-PUDLAK SYNDROME 4", "HPS4" +"HERMANSKY-PUDLAK SYNDROME 5", "HPS5" +"HERMANSKY-PUDLAK SYNDROME 6", "HPS6" +"HERMANSKY-PUDLAK SYNDROME 7", "DTNBP1" +"HERMANSKY-PUDLAK SYNDROME 8", "BLOC1S3" +"HERMANSKY-PUDLAK SYNDROME 9", "PLDN" +"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1", "UNC93B1" +"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2", "TLR3" +"HETEROTAXY, VISCERAL, 2, AUTOSOMAL", "CFC1" +"HETEROTAXY, VISCERAL, 4, AUTOSOMAL", "ACVR2B" +"HETEROTAXY, VISCERAL, 5, AUTOSOMAL", "NODAL" +"HETEROTAXY, VISCERAL, 6, AUTOSOMAL", "CCDC11" +"HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT", "FLNA" +"HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT", "FLNA" +"HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION ", "ECE1" +"HISTIOCYTOMA, ANGIOMATOID FIBROUS ", "CREB1" +"HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME", "HJCD" +"HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME", "SLC29A3" +"LYMPHOMA, HODGKIN", "KLHDC8B" +"HOLOCARBOXYLASE SYNTHETASE DEFICIENCY", "HLCS" +"HOLOPROSENCEPHALY 11", "CDON" +"HOLOPROSENCEPHALY 2", "SIX3" +"HOLOPROSENCEPHALY 3", "SHH" +"HOLOPROSENCEPHALY 4", "TGIF" +"HOLOPROSENCEPHALY 5", "ZIC2" +"HOLOPROSENCEPHALY 7", "PTCH1" +"HOLOPROSENCEPHALY 9", "GLI2" +"HOLT-ORAM SYNDROME", "TBX5" +"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE", "MTHFR" +"HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY", "CBS" +"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE", "C2orf25" +"HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE", "MTRR" +"HOYERAAL-HREIDARSSON SYNDROME", "DKC1" +"HUNTINGTON DISEASE", "HTT" +"HUNTINGTON DISEASE-LIKE 1", "PRNP" +"HUNTINGTON DISEASE-LIKE 2", "JPH3" +"HUTCHINSON-GILFORD PROGERIA SYNDROME", "LMNA" +"HYALINOSIS, INFANTILE SYSTEMIC", "ANTXR2" +"HYDATIDIFORM MOLE, RECURRENT, 1", "NALP7" +"HYDATIDIFORM MOLE, RECURRENT, 2", "C6orf221" +"LISSENCEPHALY, X-LINKED, 2", "ARX" +"HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS", "L1CAM" +"HYDROLETHALUS SYNDROME 2", "KIF7" +"HYDROLETHALUS SYNDROME 1", "HYLS1" +"HYPER-IgD SYNDROME", "MVK" +"HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT", "STAT3" +"HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE", "DOCK8" +"HYPERALDOSTERONISM, FAMILIAL, TYPE III", "KCNJ5" +"HYPERALPHALIPOPROTEINEMIA 2", "APOC3" +"HYPERALPHALIPOPROTEINEMIA 1", "CETP" +"HYPERBILIRUBINEMIA, ROTOR TYPE", "SLCO1B1" +"HYPERBILIRUBINEMIA, ROTOR TYPE", "SLCO1B3" +"HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL", "UGT1A1" +"HYPERBILIVERDINEMIA", "BLVRA" +"HYPERCALCEMIA, INFANTILE", "CYP24A1" +"HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT", "BCMO1" +"HYPERCHLORHIDROSIS, ISOLATED ", "CA12" +"HYPERCHOLANEMIA, FAMILIAL", "EPHX1" +"HYPERCHOLANEMIA, FAMILIAL", "BAAT" +"HYPERCHOLANEMIA, FAMILIAL", "TJP2" +"HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B", "APOB" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "APOA2" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "EPHX2" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "ABCA1" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "ITIH4" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "GHR" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "GSBS" +"HYPERCHOLESTEROLEMIA, FAMILIAL", "LDLR" +"HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3", "PCSK9" +"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE", "LDLRAP1" +"HYPERLIPOPROTEINEMIA, TYPE V", "APOA5" +"HYPEREKPLEXIA 2", "GLRB" +"HYPEREKPLEXIA 3", "SLC6A5" +"HYPEREKPLEXIA, HEREDITARY 1", "GLRA1" +"HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC", "PDGFRA" +"HYPERFERRITINEMIA-CATARACT SYNDROME", "FTL" +"HYPERGLYCINURIA", "SLC6A20" +"HYPERGLYCINURIA", "SLC36A2" +"HYPERGLYCINURIA", "SLC6A19" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1", "ABCC8" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2", "KCNJ11" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3", "GCK" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4", "HADHSC" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5", "INSR" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7", "SLC16A1" +"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6", "GLUD1" +"HYPERKALEMIC PERIODIC PARALYSIS", "SCN4A" +"APOLIPOPROTEIN C-II DEFICIENCY", "APOC2" +"HYPERLYSINEMIA", "AASS" +"HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS", "SLC30A10" +"HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY ", "ADK" +"HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY ", "AHCY" +"METHIONINE ADENOSYLTRANSFERASE DEFICIENCY", "MAT1A" +"HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME", "SLC25A15" +"HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS", "LRP5" +"HYPEROXALURIA, PRIMARY, TYPE I", "AGXT" +"HYPEROXALURIA, PRIMARY, TYPE II", "GRHPR" +"HYPEROXALURIA, PRIMARY, TYPE III", "HOGA1" +"HYPERPARATHYROIDISM 1", "HRPT2" +"HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY", "CASR" +"HYPERPARATHYROIDISM 2", "HRPT2" +"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A", "PTS" +"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B", "GCH1" +"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C", "QDPR" +"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D", "PCBD" +"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1", "PIGV" +"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2", "PIGO" +"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2", "KITLG" +"HYPERPROLINEMIA, TYPE I", "PRODH" +"HYPERPROLINEMIA, TYPE II", "ALDH4A1" +"HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY ", "NR3C2" +"HYPERTENSION, ESSENTIAL", "ADD1" +"HYPERTENSION, ESSENTIAL", "AGT" +"HYPERTENSION, ESSENTIAL", "AGTR1" +"HYPERTENSION, ESSENTIAL", "GNB3" +"HYPERTENSION, ESSENTIAL", "NOS3" +"HYPERTENSION, ESSENTIAL", "ECE1" +"HYPERTENSION, ESSENTIAL", "PTGIS" +"HYPERTENSION, ESSENTIAL", "CYP3A5" +"HYPERTHYROIDISM, FAMILIAL GESTATIONAL ", "TSHR" +"HYPERTHYROIDISM, NONAUTOIMMUNE", "TSHR" +"CANTU SYNDROME", "ABCC9" +"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE", "GPD1" +"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2", "SLCO2A1" +"HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS", "SARS2" +"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1", "UMOD" +"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2", "REN" +"CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY", "CYP11B2" +"CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY", "CYP11B2" +"HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2", "ANGPTL3" +"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "PTH" +"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "CASR" +"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "GCMB" +"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I", "CASR" +"HYPOCHONDROPLASIA", "FGFR3" +"HYPOGLYCEMIA, LEUCINE-INDUCED", "ABCC8" +"HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA", "KAL1" +"HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA", "TAC3" +"HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA", "TACR3" +"HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA", "GNRH1" +"HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA", "KISS1" +"HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA", "SEMA3A" +"HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA", "FGFR1" +"HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA", "PROKR2" +"HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA", "PROK2" +"HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA", "CHD7" +"HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA", "FGF8" +"HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA", "GNRHR" +"HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA", "KISS1R" +"HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA", "NELF" +"HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA", "WDR11" +"HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY", "AKT2" +"HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1", "CACNA1S" +"HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2", "SCN4A" +"HYPOMAGNESEMIA 1, INTESTINAL", "TRPM6" +"HYPOMAGNESEMIA 3, RENAL", "CLDN16" +"HYPOMAGNESEMIA 4, RENAL", "EGF" +"HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT", "CLDN19" +"HYPOMAGNESEMIA 6, RENAL", "CNNM2" +"HYPOMAGNESEMIA 2, RENAL", "FXYD2" +"HYPOMYELINATION, GLOBAL CEREBRAL", "SLC25A12" +"HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE", "GATA3" +"HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME", "TBCE" +"HYPOPHOSPHATASIA, ADULT", "ALPL" +"HYPOPHOSPHATASIA, CHILDHOOD ", "ALPL" +"HYPOPHOSPHATASIA, INFANTILE", "ALPL" +"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY", "SLC34A3" +"HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE ", "CLCN5" +"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1", "DMP1" +"HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT", "PHEX" +"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT", "FGF23" +"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2", "ENPP1" +"HYPOPLASTIC LEFT HEART SYNDROME 1", "GJA1" +"HYPOPLASTIC LEFT HEART SYNDROME 2", "NKX2-5" +"HYPOPROTEINEMIA, HYPERCATABOLIC ", "B2M" +"HYPOSPADIAS 1, X-LINKED", "AR" +"HYPOSPADIAS 2, X-LINKED", "MAMLD1" +"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4", "TSHB" +"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5", "NKX2-5" +"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2", "PAX8" +"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6", "THRA" +"HYPOTRICHOSIS 8", "LPAR6" +"HYPOTRICHOSIS AND RECURRENT SKIN VESICLES ", "DSC3" +"HYPOTRICHOSIS 2", "CDSN" +"HYPOTRICHOSIS 3", "KRT74" +"HYPOTRICHOSIS 1", "APCDD1" +"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY", "CDH3" +"HYPOTRICHOSIS 4", "HR" +"HYPOTRICHOSIS 7", "LIPH" +"HYPOTRICHOSIS 6", "DSG4" +"HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME", "SOX18" +"HYPOURICEMIA, RENAL, 2", "SLC2A9" +"HYPOURICEMIA, RENAL, 1", "SLC22A12" +"ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS", "GJB2" +"IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME", "MBTPS2" +"INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES", "CDKN1C" +"IRAK4 DEFICIENCY", "IRAK4" +"IVIC SYNDROME", "SALL4" +"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "TGM1" +"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "ALOX12B" +"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "ALOXE3" +"ICHTHYOSIS, BULLOUS TYPE", "KRT2" +"ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE", "KRT1" +"ICHTHYOSIS PREMATURITY SYNDROME", "SLC27A4" +"ICHTHYOSIS VULGARIS", "FLG" +"ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR", "KRT10" +"ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE", "ST14" +"ICHTHYOSIS, X-LINKED", "STS" +"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED ", "NIPAL4" +"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS", "KRT1" +"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS", "KRT10" +"ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE", "ABCA12" +"ICHTHYOSIS, LAMELLAR, 2", "ABCA12" +"ICHTHYOSIS, LAMELLAR, 3", "CYP4F22" +"ICHTHYOSIS, LAMELLAR, 4", "LIPN" +"ICHTHYOSIS, LAMELLAR, 1", "TGM1" +"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS", "CLDN1" +"ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION", "ELOVL4" +"IMINOGLYCINURIA ", "SLC6A20" +"IMINOGLYCINURIA ", "SLC36A2" +"IMINOGLYCINURIA ", "SLC6A19" +"IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 ", "ORAI1" +"IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2", "STIM1" +"CASPASE 8 DEFICIENCY", "CASP8" +"IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA ", "CD247" +"IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN ", "MAPBPIP" +"IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY", "FCN3" +"PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY", "PNP" +"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5", "UNG" +"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2", "AICDA" +"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3", "CD40" +"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1", "TNFSF5" +"IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA", "MAGT1" +"IMMUNODEFICIENCY, COMMON VARIABLE, 1", "ICOS" +"IMMUNODEFICIENCY, COMMON VARIABLE, 2", "TNFRSF13B" +"IMMUNODEFICIENCY, COMMON VARIABLE, 3", "CD19" +"IMMUNODEFICIENCY, COMMON VARIABLE, 4", "TNFRSF13C" +"IMMUNODEFICIENCY, COMMON VARIABLE, 5", "MS4A1" +"IMMUNODEFICIENCY, COMMON VARIABLE, 6", "CD81" +"IMMUNODEFICIENCY, COMMON VARIABLE, 7", "CR2" +"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY", "LRBA" +"IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA", "IKBKG" +"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1", "DNMT3B" +"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2", "ZBTB24" +"IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED", "FOXP3" +"IMMUNOGLOBULIN A DEFICIENCY 2", "TNFRSF13B" +"INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA", "VCP" +"INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "GNE" +"INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT", "MYH2" +"INCONTINENTIA PIGMENTI", "IKBKG" +"INFANTILE CEREBELLAR-RETINAL DEGENERATION", "ACO2" +"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A", "PLA2G6" +"INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS", "FADD" +"INFLAMMATORY BOWEL DISEASE 19", "IRGM" +"INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE", "CRFB4" +"INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE", "IL10RA" +"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL", "ADAM17" +"INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE", "SCN9A" +"INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS", "NTRK1" +"FATAL FAMILIAL INSOMNIA", "PRNP" +"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3", "PPP1R3A" +"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3", "PPARG" +"INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO", "IGF1R" +"OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS", "IL1RN" +"INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF", "IL2RA" +"INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL ", "ITGA3" +"INTERSTITIAL NEPHRITIS, KARYOMEGALIC", "FAN1" +"INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED", "FLNA" +"INTRINSIC FACTOR DEFICIENCY", "GIF" +"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1", "TIRAP" +"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1", "IRAK4" +"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2", "IKBKG" +"IRIDOGONIODYSGENESIS, TYPE 1", "FOXC1" +"IRIDOGONIODYSGENESIS, TYPE 2", "PITX2" +"IRON-REFRACTORY IRON DEFICIENCY ANEMIA", "TMPRSS6" +"ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "ACAD8" +"ISOVALERIC ACIDEMIA", "IVD" +"JACKSON-WEISS SYNDROME", "FGFR1" +"JACKSON-WEISS SYNDROME", "FGFR2" +"JALILI SYNDROME", "CNNM4" +"JAWAD SYNDROME", "RBBP8" +"OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA", "TIMM8A" +"JERVELL AND LANGE-NIELSEN SYNDROME 2", "KCNE1" +"JERVELL AND LANGE-NIELSEN SYNDROME 1", "KCNQ1" +"JOHANSON-BLIZZARD SYNDROME", "UBR1" +"JOUBERT SYNDROME", "INPP5E" +"JOUBERT SYNDROME 10", "OFD1" +"JOUBERT SYNDROME 13", "TECT1" +"JOUBERT SYNDROME 14", "TMEM237" +"JOUBERT SYNDROME 15", "CEP41" +"JOUBERT SYNDROME 16", "TMEM138" +"JOUBERT SYNDROME 17", "C4orf42" +"JOUBERT SYNDROME 18", "TCTN3" +"NEPHRONOPHTHISIS 14", "ZNF423" +"JOUBERT SYNDROME 2", "TMEM216" +"JOUBERT SYNDROME 20", "TMEM231" +"JOUBERT SYNDROME 4", "NPHP1" +"JOUBERT SYNDROME 5", "CEP290" +"JOUBERT SYNDROME 6", "TMEM67" +"JOUBERT SYNDROME 7", "RPGRIP1L" +"JOUBERT SYNDROME 8", "ARL13B" +"JOUBERT SYNDROME 9", "CC2D2A" +"JOUBERT SYNDROME 3", "AHI1" +"JUVENILE POLYPOSIS SYNDROME", "MADH4" +"JUVENILE POLYPOSIS SYNDROME", "BMPR1A" +"JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME", "MADH4" +"KBG SYNDROME", "ANKRD11" +"KABUKI SYNDROME 1", "MLL2" +"KABUKI SYNDROME 2", "KDM6A" +"KAHRIZI SYNDROME", "SRD5A3" +"KANZAKI DISEASE", "NAGA" +"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B", "PLA2G6" +"KENNY-CAFFEY SYNDROME, TYPE 1", "TBCE" +"KERATITIS, HEREDITARY ", "PAX6" +"KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT", "GJB2" +"KERATOCONUS 1", "VSX1" +"KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA", "AAGAB" +"KERATODERMA, PALMOPLANTAR, WITH DEAFNESS ", "GJB2" +"KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED", "MBTPS2" +"KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED", "SAT1" +"KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA", "POMP" +"KERATOSIS PALMOPLANTARIS STRIATA I", "DSG1" +"KERATOSIS PALMOPLANTARIS STRIATA II", "DSP" +"KERATOSIS PALMOPLANTARIS STRIATA III", "KRT1" +"KERATOSIS, SEBORRHEIC ", "PIK3CA" +"KEUTEL SYNDROME", "MGP" +"KINDLER SYNDROME", "KIND1" +"KLEEFSTRA SYNDROME", "EHMT1" +"KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT", "GDF6" +"KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT", "GDF3" +"KNIEST DYSPLASIA ", "COL2A1" +"KNOBLOCH SYNDROME 2", "ADAMTS18" +"KNOBLOCH SYNDROME 1", "COL18A1" +"KOHLSCHUTTER-TONZ SYNDROME", "ROGDI" +"KOOLEN-DE VRIES SYNDROME", "KANSL1" +"KOWARSKI SYNDROME", "GH1" +"KRABBE DISEASE", "GALC" +"KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY", "PSAP" +"L-2-HYDROXYGLUTARIC ACIDURIA", "L2HGDH" +"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGFR3" +"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGFR2" +"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGF10" +"LEOPARD SYNDROME 1", "PTPN11" +"LEOPARD SYNDROME 2 ", "RAF1" +"LEOPARD SYNDROME 3 ", "BRAF" +"LIG4 SYNDROME ", "LIG4" +"LACTASE DEFICIENCY, CONGENITAL", "LCT" +"LACTOSE INTOLERANCE, ADULT TYPE", "MCM6" +"LACTATE DEHYDROGENASE B DEFICIENCY", "LDHB" +"PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY", "PDX1" +"MYOPATHY, DISTAL, 1", "MYH7" +"LANGER MESOMELIC DYSPLASIA", "SHOX" +"LANGER MESOMELIC DYSPLASIA", "SHOXY" +"LARON SYNDROME", "GHR" +"LARSEN SYNDROME", "FLNB" +"LARYNGOONYCHOCUTANEOUS SYNDROME", "LAMA3" +"LATHOSTEROLOSIS", "SC5DL" +"LEBER CONGENITAL AMAUROSIS 1", "GUCY2D" +"LEBER CONGENITAL AMAUROSIS 10", "CEP290" +"LEBER CONGENITAL AMAUROSIS 11", "IMPDH1" +"LEBER CONGENITAL AMAUROSIS 12", "RD3" +"LEBER CONGENITAL AMAUROSIS 13", "RDH12" +"LEBER CONGENITAL AMAUROSIS 14", "LRAT" +"LEBER CONGENITAL AMAUROSIS 15", "TULP1" +"LEBER CONGENITAL AMAUROSIS 16", "KCNJ13" +"LEBER CONGENITAL AMAUROSIS 2", "RPE65" +"LEBER CONGENITAL AMAUROSIS 3", "SPATA7" +"LEBER CONGENITAL AMAUROSIS 5", "LCA5" +"LEBER CONGENITAL AMAUROSIS 6", "RPGRIP1" +"LEBER CONGENITAL AMAUROSIS 7", "CRX" +"LEBER CONGENITAL AMAUROSIS 8", "CRB1" +"LEBER CONGENITAL AMAUROSIS 9", "NMNAT1" +"LEFT VENTRICULAR NONCOMPACTION 1", "DTNA" +"LEGG-CALVE-PERTHES DISEASE", "COL2A1" +"LEGIUS SYNDROME", "SPRED1" +"LEIGH SYNDROME", "SURF1" +"LEIGH SYNDROME", "DLD" +"LEIGH SYNDROME", "SDHA" +"LEIGH SYNDROME", "NDUFS7" +"LEIGH SYNDROME", "NDUFA2" +"LEIGH SYNDROME", "NDUFS8" +"LEIGH SYNDROME", "NDUFS4" +"LEIGH SYNDROME", "COX15" +"LEIGH SYNDROME", "BCS1L" +"LEIGH SYNDROME", "NDUFA9" +"LEIGH SYNDROME", "NDUFA10" +"LEIGH SYNDROME", "NDUFS3" +"LEIGH SYNDROME", "NDUFAF2" +"LEIGH SYNDROME", "C8orf38" +"LEIGH SYNDROME", "FOXRED1" +"LEIGH SYNDROME", "NDUFA12" +"LEIGH SYNDROME, FRENCH CANADIAN TYPE", "LRPPRC" +"LEIGH SYNDROME, X-LINKED ", "PDHA1" +"HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER", "FH" +"DONOHUE SYNDROME", "INSR" +"LERI-WEILL DYSCHONDROSTEOSIS", "SHOX" +"LERI-WEILL DYSCHONDROSTEOSIS", "SHOXY" +"LESCH-NYHAN SYNDROME", "HPRT1" +"LETHAL CONGENITAL CONTRACTURE SYNDROME 2", "ERBB3" +"LETHAL CONGENITAL CONTRACTURE SYNDROME 3", "PIP5K1C" +"LETHAL CONGENITAL CONTRACTURE SYNDROME 1", "GLE1" +"LETHAL CONGENITAL CONTRACTURE SYNDROME 4", "MYBPC1" +"LEUKEMIA, ACUTE LYMPHOBLASTIC", "BCR" +"LEUKEMIA, ACUTE MYELOID", "NUP214" +"LEUKEMIA, ACUTE MYELOID", "CEBPA" +"LEUKEMIA, ACUTE MYELOID", "FLT3" +"LEUKEMIA, ACUTE MYELOID", "GATA2" +"LEUKEMIA, ACUTE MYELOID", "JAK2" +"LEUKEMIA, ACUTE MYELOID", "RUNX1" +"LEUKEMIA, ACUTE MYELOID", "NPM1" +"LEUKEMIA, ACUTE MYELOID", "KIT" +"LEUKEMIA, ACUTE MYELOID", "TERT" +"LEUKEMIA, ACUTE MYELOID", "GMPS" +"LEUKEMIA, ACUTE MYELOID", "ETV6" +"LEUKEMIA, ACUTE MYELOID", "LPP" +"LEUKEMIA, ACUTE MYELOID", "AF10" +"LEUKEMIA, ACUTE MYELOID", "PICALM" +"LEUKEMIA, ACUTE MYELOID", "CHIC2" +"LEUKEMIA, ACUTE MYELOID", "ARHGEF12" +"LEUKEMIA, ACUTE MYELOID", "WHSC1L1" +"LEUKEMIA, CHRONIC MYELOID", "BCR" +"JUVENILE MYELOMONOCYTIC LEUKEMIA", "PTPN11" +"JUVENILE MYELOMONOCYTIC LEUKEMIA", "ARHGAP26" +"JUVENILE MYELOMONOCYTIC LEUKEMIA", "NF1" +"DOWN SYNDROME", "GATA1" +"LEUKOCYTE ADHESION DEFICIENCY, TYPE I", "ITGB2" +"LEUKOCYTE ADHESION DEFICIENCY, TYPE III", "KIND3" +"LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT", "LMNB1" +"LEUKODYSTROPHY, HYPOMYELINATING, 2", "GJC2" +"LEUKODYSTROPHY, HYPOMYELINATING, 3", "AIMP1" +"LEUKODYSTROPHY, HYPOMYELINATING, 4", "HSPD1" +"LEUKODYSTROPHY, HYPOMYELINATING, 5", "FAM126A" +"LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM", "POLR3A" +"LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM", "POLR3B" +"LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION", "DARS2" +"LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY", "SCP2" +"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B5" +"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B3" +"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B2" +"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B1" +"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B4" +"LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY ", "RNASET2" +"LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS", "CSF1R" +"PRECOCIOUS PUBERTY, MALE-LIMITED", "LHCGR" +"LEYDIG CELL HYPOPLASIA, TYPE I", "LHCGR" +"LI-FRAUMENI SYNDROME 1", "TP53" +"LI-FRAUMENI SYNDROME 2", "CHEK2" +"LIDDLE SYNDROME", "SCNN1B" +"LIDDLE SYNDROME", "SCNN1G" +"LIMB-MAMMARY SYNDROME", "TP63" +"LIPASE DEFICIENCY, COMBINED", "LMF1" +"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1", "AGPAT2" +"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2", "BSCL2" +"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3", "CAV1" +"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4", "PTRF" +"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2", "LMNA" +"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4", "PLIN1" +"LIPOID CONGENITAL ADRENAL HYPERPLASIA", "STAR" +"LIPOID PROTEINOSIS OF URBACH AND WIETHE", "ECM1" +"LIPOPROTEIN GLOMERULOPATHY", "APOE" +"HYPERLIPOPROTEINEMIA, TYPE I", "LPL" +"LISSENCEPHALY 1", "PAFAH1B1" +"LISSENCEPHALY 2", "RELN" +"LISSENCEPHALY 3", "TUBA1A" +"LISSENCEPHALY 4", "NDE1" +"LISSENCEPHALY, X-LINKED, 1", "DCX" +"LIVER FAILURE, INFANTILE, TRANSIENT", "TRMU" +"LOEYS-DIETZ SYNDROME, TYPE 1A", "TGFBR1" +"LOEYS-DIETZ SYNDROME, TYPE 1B", "TGFBR2" +"LOEYS-DIETZ SYNDROME, TYPE 2A", "TGFBR1" +"LOEYS-DIETZ SYNDROME, TYPE 2B", "TGFBR2" +"LOEYS-DIETZ SYNDROME, TYPE 3", "SMAD3" +"LOEYS-DIETZ SYNDROME, TYPE 4", "TGFB2" +"LONG QT SYNDROME 12", "SNT1" +"LONG QT SYNDROME 13", "KCNJ5" +"LONG QT SYNDROME 1", "KCNQ1" +"LONG QT SYNDROME 10", "SCN4B" +"LONG QT SYNDROME 11", "AKAP9" +"LONG QT SYNDROME 2", "KCNH2" +"LONG QT SYNDROME 2", "ALG10" +"LONG QT SYNDROME 3", "SCN5A" +"LONG QT SYNDROME 5", "KCNE1" +"LONG QT SYNDROME 6", "KCNE2" +"LONG QT SYNDROME 9", "CAV3" +"LOWE OCULOCEREBRORENAL SYNDROME", "OCRL" +"LUJAN-FRYNS SYNDROME", "MED12" +"LYMPHANGIOLEIOMYOMATOSIS", "TSC2" +"LYMPHANGIOLEIOMYOMATOSIS", "TSC1" +"LYMPHEDEMA, HEREDITARY, IA", "FLT4" +"LYMPHEDEMA, HEREDITARY, IC", "GJC2" +"LYMPHEDEMA-DISTICHIASIS SYNDROME", "FOXC2" +"GASTRIC LYMPHOMA, PRIMARY ", "BCL10" +"LYMPHOMA, NON-HODGKIN, FAMILIAL", "PRF1" +"LYMPHOMA, NON-HODGKIN, FAMILIAL", "CASP10" +"LYMPHOMA, NON-HODGKIN, FAMILIAL", "RAD54L" +"LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1 ", "ITK" +"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2", "XIAP" +"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1", "SH2D1A" +"LYSINURIC PROTEIN INTOLERANCE", "SLC7A7" +"BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS", "PLOD3" +"MASP2 DEFICIENCY ", "MASP2" +"MASS SYNDROME", "FBN1" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1", "HNF4A" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3", "HNF1A" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4", "IPF1" +"MACHADO-JOSEPH DISEASE", "ATXN3" +"MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS", "RIN2" +"MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME", "RNF135" +"MACROCEPHALY/AUTISM SYNDROME ", "PTEN" +"CHROMOSOME 5q DELETION SYNDROME", "RPS14" +"MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1", "MYD88" +"MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS ", "MYH9" +"MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED ", "TUBB1" +"MACULAR DYSTROPHY, CORNEAL, 1", "CHST6" +"MACULAR DEGENERATION, X-LINKED ATROPHIC ", "RPGR" +"MACULAR DEGENERATION, AGE-RELATED, 11", "CST3" +"MACULAR DEGENERATION, AGE-RELATED, 2", "ABCA4" +"MACULAR DEGENERATION, AGE-RELATED, 3", "FBLN5" +"MACULAR DEGENERATION, AGE-RELATED, 6", "RAXL1" +"STARGARDT DISEASE 3", "ELOVL4" +"PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM", "PRPH2" +"MACULAR DYSTROPHY, RETINAL, 2", "PROM1" +"RETINITIS PIGMENTOSA 56", "IMPG2" +"MAINZER-SALDINO SYNDROME", "IFT140" +"MAJEED SYNDROME", "LPIN2" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1", "PTEN" +"MALONYL-CoA DECARBOXYLASE DEFICIENCY ", "MLYCD" +"CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM", "LMNA" +"MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY", "ZMPSTE24" +"MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY", "LMNA" +"MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY", "EFTUD2" +"MANITOBA OCULOTRICHOANAL SYNDROME", "FREM1" +"MANNOSIDOSIS, ALPHA B, LYSOSOMAL", "MAN2B1" +"MANNOSIDOSIS, BETA A, LYSOSOMAL", "MANBA" +"MAPLE SYRUP URINE DISEASE", "DLD" +"MAPLE SYRUP URINE DISEASE", "DBT" +"MAPLE SYRUP URINE DISEASE", "BCKDHB" +"MAPLE SYRUP URINE DISEASE", "BCKDHA" +"MARFAN SYNDROME", "FBN1" +"MARINESCO-SJOGREN SYNDROME", "SIL1" +"MARSHALL SYNDROME", "COL11A1" +"MARSHALL-SMITH SYNDROME", "NFIX" +"PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA", "RFX6" +"MARTSOLF SYNDROME", "RAB3GAP2" +"MAST CELL DISEASE", "KIT" +"MAST SYNDROME", "ACP33" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6", "NEUROD1" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10", "INS" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11", "BLK" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9", "PAX4" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7", "KLF11" +"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION", "CEL" +"MAY-HEGGLIN ANOMALY", "MYH9" +"GLYCOGEN STORAGE DISEASE V", "PYGM" +"MCCUNE-ALBRIGHT SYNDROME", "GNAS" +"MCKUSICK-KAUFMAN SYNDROME", "MKKS" +"MCLEOD SYNDROME", "XK" +"MEACHAM SYNDROME ", "WT1" +"MECKEL SYNDROME, TYPE 1", "MKS1" +"MECKEL SYNDROME, TYPE 10", "B9D2" +"MECKEL SYNDROME, TYPE 2", "TMEM216" +"MECKEL SYNDROME, TYPE 3", "TMEM67" +"MECKEL SYNDROME, TYPE 4", "CEP290" +"MECKEL SYNDROME, TYPE 5", "RPGRIP1L" +"MECKEL SYNDROME, TYPE 6", "CC2D2A" +"MECKEL SYNDROME, TYPE 7", "NPHP3" +"MECKEL SYNDROME, TYPE 8", "TCTN2" +"MECKEL SYNDROME, TYPE 9", "B9D1" +"MECONIUM ILEUS ", "GUCY2C" +"MEDULLARY CYSTIC KIDNEY DISEASE 2", "UMOD" +"THYROID CARCINOMA, FAMILIAL MEDULLARY", "RET" +"THYROID CARCINOMA, FAMILIAL MEDULLARY", "NTRK1" +"MEDULLOBLASTOMA", "BRCA2" +"MEDULLOBLASTOMA", "PTCH2" +"MEDULLOBLASTOMA", "SUFU" +"CORNEAL DYSTROPHY, MEESMANN", "KRT3" +"CORNEAL DYSTROPHY, MEESMANN", "KRT12" +"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A", "HEPACAM" +"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION", "HEPACAM" +"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1", "MLC1" +"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME", "PIK3R2" +"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME", "AKT3" +"MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY", "DHFR" +"MEGALOBLASTIC ANEMIA 1", "CUBN" +"MEGALOBLASTIC ANEMIA 1", "AMN" +"MEIER-GORLIN SYNDROME 1", "ORC1" +"MEIER-GORLIN SYNDROME 2", "ORC4" +"MEIER-GORLIN SYNDROME 3", "ORC6" +"MEIER-GORLIN SYNDROME 4", "CDT1" +"MEIER-GORLIN SYNDROME 5", "CDC6" +"MELANOMA-ASTROCYTOMA SYNDROME", "CDKN2A" +"MAL DE MELEDA", "SLURP1" +"MELNICK-NEEDLES SYNDROME", "FLNA" +"MELORHEOSTOSIS, ISOLATED", "LEMD3" +"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "MN1" +"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "PTEN" +"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "SUFU" +"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "NF2" +"MENKES DISEASE", "ATP7A" +"MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA", "CASK" +"SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME", "PHF8" +"MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES ", "FOXP1" +"MENTAL RETARDATION, FRA12A TYPE ", "DIP2B" +"MENTAL RETARDATION, X-LINKED 1", "IQSEC2" +"MENTAL RETARDATION, X-LINKED 17", "HSD17B10" +"MENTAL RETARDATION, X-LINKED 19", "RPS6KA3" +"MENTAL RETARDATION, X-LINKED 21", "IL1RAPL1" +"MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED", "ARX" +"MENTAL RETARDATION, X-LINKED 3", "HCFC1" +"MENTAL RETARDATION, X-LINKED 30", "PAK3" +"MENTAL RETARDATION, X-LINKED 41", "GDI1" +"MENTAL RETARDATION, X-LINKED 45", "ZNF81" +"MENTAL RETARDATION, X-LINKED 46", "ARHGEF6" +"MENTAL RETARDATION, X-LINKED 58", "TSPAN7" +"MENTAL RETARDATION, X-LINKED 63", "ACSL4" +"MENTAL RETARDATION, X-LINKED 72", "RAB39B" +"MENTAL RETARDATION, X-LINKED 88", "AGTR2" +"MENTAL RETARDATION, X-LINKED 89", "ZNF41" +"MENTAL RETARDATION, X-LINKED 9", "FTSJ1" +"MENTAL RETARDATION, X-LINKED 90", "DLG3" +"MENTAL RETARDATION, X-LINKED 91", "ZDHHC15" +"MENTAL RETARDATION, X-LINKED 92", "ZNF674" +"MENTAL RETARDATION, X-LINKED 93", "BRWD3" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE", "GRIA3" +"MENTAL RETARDATION, X-LINKED 95", "MAGT1" +"MENTAL RETARDATION, X-LINKED 96", "SYP" +"MENTAL RETARDATION, X-LINKED 97", "ZNF711" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC 10", "HSD17B10" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE", "SLC9A6" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE", "AP1S2" +"LUBS X-LINKED MENTAL RETARDATION SYNDROME", "MECP2" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE", "UBE2A" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE", "ZDHHC9" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE", "HUWE1" +"AUTISM, SUSCEPTIBILITY TO, X-LINKED 2", "NLGN4" +"MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE", "AFF2" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE", "SMS" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC 13", "MECP2" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC 14", "UPF3B" +"MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT", "CUL4B" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC 32", "CLIC2" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE", "KDM5C" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE", "RAB40AL" +"MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE", "OPHN1" +"MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE", "ATP6AP2" +"MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM", "SOX3" +"MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS", "SOBP" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 1", "MBD5" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 10", "CACNG2" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 11", "EPB41L1" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 12", "ARID1B" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 13", "DYNC1H1" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 14", "ARID1A" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 15", "SMARCB1" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 16", "SMARCA4" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 2", "DOCK8" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 3", "CDH15" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 4", "KIRREL3" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 5", "SYNGAP" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 6", "GRIN2B" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 7", "DYRK1A" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 8", "GRIN1" +"MENTAL RETARDATION, AUTOSOMAL DOMINANT 9", "KIF1A" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1", "PRSS12" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12", "ST3GAL3" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13", "TRAPPC9" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14", "TECR" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15", "MAN1B1" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18", "MED23" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2", "CRBN" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3", "CC2D1A" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34", "CRADD" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5", "NSUN2" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7", "TUSC3" +"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6", "GRIK2" +"MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS", "MEF2C" +"MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS", "INPP5E" +"MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1", "ATRX" +"MESOTHELIOMA, MALIGNANT", "BCL10" +"MESOTHELIOMA, MALIGNANT", "WT1" +"METACHONDROMATOSIS", "PTPN11" +"METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY", "PSAP" +"METACHROMATIC LEUKODYSTROPHY", "ARSA" +"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE", "MMP13" +"METAPHYSEAL ANADYSPLASIA 2", "MMP9" +"METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE", "PTHR1" +"METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE", "COL10A1" +"METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS", "RMRP" +"METATROPIC DYSPLASIA", "TRPV4" +"METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE", "CYB5R3" +"METHEMOGLOBINEMIA TYPE IV", "CYB5A" +"METHYLCOBALAMIN DEFICIENCY, cblG TYPE", "MTR" +"METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY", "ALDH6A1" +"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE", "MMACHC" +"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE", "LMBRD1" +"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE", "ABCD4" +"METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT", "CD320" +"METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY", "MUT" +"METHYLMALONIC ACIDURIA, cblA TYPE", "MMAA" +"METHYLMALONIC ACIDURIA, cblB TYPE", "MMAB" +"METHYLMALONYL-CoA EPIMERASE DEFICIENCY", "MCEE" +"MEVALONIC ACIDURIA", "MVK" +"MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY", "SLC25A3" +"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I", "RNU4ATAC" +"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "PCNT" +"MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE", "MCPH1" +"MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS", "WDR62" +"MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE", "CDK5RAP2" +"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE", "CASC5" +"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE", "CEP152" +"MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE", "ASPM" +"MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE", "CENPJ" +"MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE", "STIL" +"MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE", "CEP135" +"MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL RECESSIVE ", "TUBGCP6" +"MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION", "KIF11" +"MICROCEPHALY, AMISH TYPE", "SLC25A19" +"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME", "IER3IP1" +"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY ", "MED17" +"VITREORETINOCHOROIDOPATHY", "BEST1" +"MICROPHTHALMIA, ISOLATED, WITH CATARACT 2", "SIX6" +"MICROPHTHALMIA, ISOLATED, WITH CATARACT 4", "CRYBA4" +"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3", "CHX10" +"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5", "SHH" +"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6", "GDF6" +"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6", "GDF3" +"MICROPHTHALMIA WITH LIMB ANOMALIES", "SMOC1" +"MICROPHTHALMIA, ISOLATED 2", "CHX10" +"MICROPHTHALMIA, ISOLATED 3", "RAX" +"MICROPHTHALMIA, ISOLATED 4", "GDF6" +"MICROPHTHALMIA, ISOLATED 5", "MFRP" +"MICROPHTHALMIA, ISOLATED 6", "PRSS56" +"MICROPHTHALMIA, ISOLATED 7", "GDF3" +"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7", "ABCB6" +"MICROPHTHALMIA, SYNDROMIC 9", "STRA6" +"MICROPHTHALMIA, SYNDROMIC 11", "VAX1" +"MICROPHTHALMIA, SYNDROMIC 2", "BCOR" +"MICROPHTHALMIA, SYNDROMIC 3", "SOX2" +"MICROPHTHALMIA, SYNDROMIC 5", "OTX2" +"MICROPHTHALMIA, SYNDROMIC 6", "BMP4" +"MICROPHTHALMIA, SYNDROMIC 7", "HCCS" +"MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA", "LTBP2" +"MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE ", "HOXA2" +"DIARRHEA 2, WITH MICROVILLUS ATROPHY", "MYO5B" +"MIGRAINE, FAMILIAL HEMIPLEGIC, 2", "ATP1A2" +"MIGRAINE, FAMILIAL HEMIPLEGIC, 1", "CACNA1A" +"MIGRAINE, FAMILIAL HEMIPLEGIC, 3", "SCN1A" +"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "EDNRA" +"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "ESR1" +"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "TNF" +"POSTAXIAL ACROFACIAL DYSOSTOSIS", "DHODH" +"MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA", "RYR1" +"MIRROR MOVEMENTS 2", "RAD51A" +"MIRROR MOVEMENTS 1", "DCC" +"MISMATCH REPAIR CANCER SYNDROME", "MLH1" +"MISMATCH REPAIR CANCER SYNDROME", "PMS2" +"MISMATCH REPAIR CANCER SYNDROME", "MSH6" +"MISMATCH REPAIR CANCER SYNDROME", "MSH2" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)", "TYMP" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)", "TK2" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)", "DGUOK" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)", "POLG" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)", "POLG" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA)", "SUCLA2" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)", "MPV17" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)", "C10orf2" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH", "RRM2B" +"MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)", "SUCLG1" +"MITOCHONDRIAL COMPLEX II DEFICIENCY", "SDHA" +"MITOCHONDRIAL COMPLEX II DEFICIENCY", "SDHAF1" +"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "UQCRB" +"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "BCS1L" +"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "UQCRQ" +"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "TTC19" +"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1", "ATPAF2" +"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2", "TMEM70" +"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3", "ATP5E" +"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1", "PUS1" +"MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY", "BRP44L" +"SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS", "POLG" +"MIYOSHI MUSCULAR DYSTROPHY 1", "DYSF" +"MIYOSHI MUSCULAR DYSTROPHY 3", "ANO5" +"MOHR-TRANEBJAERG SYNDROME", "TIMM8A" +"MOLYBDENUM COFACTOR DEFICIENCY", "MOCS1" +"MOLYBDENUM COFACTOR DEFICIENCY", "MOCS2" +"MOLYBDENUM COFACTOR DEFICIENCY", "GPHN" +"MONILETHRIX ", "KRT86" +"MONILETHRIX ", "KRT81" +"MONILETHRIX ", "KRT83" +"MONONEUROPATHY OF THE MEDIAN NERVE, MILD", "SH3TC2" +"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2", "CEP57" +"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1", "BUB1B" +"MOWAT-WILSON SYNDROME", "ZEB2" +"MOYAMOYA DISEASE 5", "ACTA2" +"MUCKLE-WELLS SYNDROME", "NLRP3" +"MUCOLIPIDOSIS II ALPHA/BETA", "GNPTAB" +"MUCOLIPIDOSIS III ALPHA/BETA", "GNPTAB" +"MUCOLIPIDOSIS III GAMMA", "GNPTAG" +"MUCOLIPIDOSIS IV", "MCOLN1" +"MUCOPOLYSACCHARIDOSIS TYPE IIIA", "SGSH" +"MUCOPOLYSACCHARIDOSIS TYPE II", "IDS" +"MUCOPOLYSACCHARIDOSIS TYPE IVA", "GALNS" +"HURLER SYNDROME", "IDUA" +"HURLER-SCHEIE SYNDROME", "IDUA" +"SCHEIE SYNDROME", "IDUA" +"MUCOPOLYSACCHARIDOSIS TYPE VII", "GUSB" +"MUCOPOLYSACCHARIDOSIS TYPE IIIB", "NAGLU" +"MUCOPOLYSACCHARIDOSIS TYPE IIIC", "HGSNAT" +"MUCOPOLYSACCHARIDOSIS TYPE IIID", "GNS" +"MUCOPOLYSACCHARIDOSIS TYPE IVB", "GLB1" +"MUCOPOLYSACCHARIDOSIS TYPE IX", "HYAL1" +"MUCOPOLYSACCHARIDOSIS TYPE VI", "ARSB" +"MUENKE SYNDROME", "FGFR3" +"MUIR-TORRE SYNDROME", "MLH1" +"MUIR-TORRE SYNDROME", "MSH2" +"MULIBREY NANISM", "TRIM37" +"MULLERIAN APLASIA AND HYPERANDROGENISM", "WNT4" +"MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME", "MAFB" +"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1", "PIGN" +"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2", "PIGA" +"MULTIPLE ENDOCRINE NEOPLASIA, TYPE I", "MEN1" +"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA", "RET" +"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB", "RET" +"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV", "CDKN1B" +"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS", "B3GAT3" +"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1", "NFU1" +"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2", "BOLA3" +"MYELOMA, MULTIPLE", "LIG4" +"MYELOMA, MULTIPLE", "IRF4" +"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRNA1" +"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRND" +"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRNG" +"MULTIPLE SULFATASE DEFICIENCY", "SUMF1" +"MULTIPLE SYNOSTOSES SYNDROME 2", "GDF5" +"MULTIPLE SYNOSTOSES SYNDROME 3", "FGF9" +"MULTIPLE SYNOSTOSES SYNDROME 1", "NOG" +"MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME", "ACTA2" +"GLYCOGEN STORAGE DISEASE, TYPE IXd", "PHKA1" +"MUSCLE HYPERTROPHY", "GDF8" +"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY", "PLEC1" +"MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A", "LAMA2" +"MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED", "LMNA" +"MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "ITGA7" +"MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE", "CHKB" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A", "TTID" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B", "LMNA" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E", "DNAJB6" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A", "CAPN3" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B", "DYSF" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C", "SGCG" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D", "SGCA" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E", "SGCB" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F", "SGCD" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G", "TCAP" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H", "TRIM32" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J", "TTN" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L", "ANO5" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q", "PLEC1" +"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C", "CAV3" +"RIGID SPINE MUSCULAR DYSTROPHY 1", "SEPN1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1", "POMT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2", "POMT2" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3", "POMGNT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4", "FKTN" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5", "FKRP" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6", "LARGE" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7", "ISPD" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8", "GTDC2" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1", "POMT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2", "POMT2" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3", "POMGNT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6", "LARGE" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5", "FKRP" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4", "FKTN" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1", "POMT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2", "POMT2" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3", "POMGNT1" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4", "FKTN" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5", "FKRP" +"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7", "DAG1" +"MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1", "GFPT1" +"MYASTHENIA, LIMB-GIRDLE, FAMILIAL", "AGRN" +"MYASTHENIA, LIMB-GIRDLE, FAMILIAL", "DOK7" +"MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE ", "SCN4A" +"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "CHRNB1" +"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "CHRNE" +"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "MUSK" +"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "RAPSN" +"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA", "CHAT" +"MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2", "DPAGT1" +"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRNA1" +"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRND" +"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRNE" +"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNA1" +"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNB1" +"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRND" +"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNE" +"MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE", "STAT1" +"MYELODYSPLASTIC SYNDROME", "GATA2" +"MYELODYSPLASTIC SYNDROME", "SF3B1" +"MYELODYSPLASTIC SYNDROME", "TET2" +"MYELODYSPLASTIC SYNDROME", "ASXL1" +"MYELOFIBROSIS", "JAK2" +"MYELOFIBROSIS", "MPL" +"MYELOFIBROSIS", "SH2B3" +"MYELOPEROXIDASE DEFICIENCY", "MPO" +"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA", "PDGFRB" +"MYHRE SYNDROME", "MADH4" +"MYOCLONIC EPILEPSY, FAMILIAL INFANTILE", "TBC1D24" +"MYOCLONUS, FAMILIAL CORTICAL", "NOL3" +"MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE", "LPIN1" +"SEIZURES, BENIGN FAMILIAL NEONATAL, 1", "KCNQ2" +"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET", "CPT2" +"MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY", "ISCU" +"NEMALINE MYOPATHY 3", "ACTA1" +"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET", "MEGF10" +"MYOPATHY, CENTRONUCLEAR, 1", "DNM2" +"MYOPATHY, CENTRONUCLEAR, 1", "MTMR14" +"MYOPATHY, CENTRONUCLEAR, 3", "MYF6" +"MYOPATHY, CENTRONUCLEAR, 4", "CCDC78" +"MYOPATHY, CENTRONUCLEAR, 2", "BIN1" +"MYOPATHY, CONGENITAL, COMPTON-NORTH ", "CNTN1" +"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "ACTA1" +"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "TPM3" +"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "SEPN1" +"MYOPATHY, DISTAL, 2", "MATR3" +"MYOPATHY, DISTAL, 4", "FLNC" +"MYOPATHY, DISTAL, TATEYAMA TYPE", "CAV3" +"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET", "DYSF" +"MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY", "TTN" +"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2", "YARS2" +"MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY", "GFER" +"MYOPATHY, MYOFIBRILLAR, 1", "DES" +"MYOPATHY, MYOFIBRILLAR, 5", "FLNC" +"MYOPATHY, MYOFIBRILLAR 6, MFM6", "BAG3" +"MYOPATHY, MYOFIBRILLAR, 4", "LDB3" +"MYOPATHY, MYOFIBRILLAR, 2, MFM2", "CRYAB" +"MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED", "CRYAB" +"MYOPATHY, MYOSIN STORAGE", "MYH7" +"HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE", "TTN" +"MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET ", "FHL1" +"MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE ", "FHL1" +"MYOPATHY, SPHEROID BODY ", "TTID" +"MYOPIA 21, AUTOSOMAL DOMINANT", "ZNF644" +"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION", "LEPREL1" +"MYOSCLEROSIS, AUTOSOMAL RECESSIVE", "COL6A2" +"MYOPATHY, MYOFIBRILLAR, 3", "TTID" +"MYOTONIA, POTASSIUM-AGGRAVATED", "SCN4A" +"MYOTONIA CONGENITA, AUTOSOMAL DOMINANT", "CLCN1" +"MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE", "CLCN1" +"MYOTONIC DYSTROPHY 1", "DMPK" +"MYOTONIC DYSTROPHY 2", "ZNF9" +"MYOPATHY, CENTRONUCLEAR, X-LINKED", "MTM1" +"MYXOMA, INTRACARDIAC", "PRKAR1A" +"N-ACETYLASPARTATE DEFICIENCY", "NAT8L" +"N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY", "NAGS" +"OGDEN SYNDROME", "NAA10" +"NAEGELI SYNDROME", "KRT14" +"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10", "FZD6" +"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3", "PLCD1" +"NAIL-PATELLA SYNDROME", "LMX1B" +"NANCE-HORAN SYNDROME", "NHS" +"NANOPHTHALMOS 2", "MFRP" +"NARCOLEPSY 1", "HCRT" +"NARCOLEPSY 7", "MOG" +"NASOPHARYNGEAL CARCINOMA", "TP53" +"POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY", "TYROBP" +"POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY", "TREM2" +"NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT", "MCM4" +"NAXOS DISEASE", "JUP" +"NEMALINE MYOPATHY 2", "NEB" +"NEMALINE MYOPATHY 6", "KBTBD13" +"NEMALINE MYOPATHY 7", "CFL2" +"NEMALINE MYOPATHY 4", "TPM2" +"NEMALINE MYOPATHY 5", "TNNT1" +"NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS", "AVPR2" +"NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE", "CLCN5" +"NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1", "SLC34A1" +"NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2", "SLC9A3R1" +"NEPHRONOPHTHISIS 1", "NPHP1" +"NEPHRONOPHTHISIS 11", "TMEM67" +"NEPHRONOPHTHISIS 12", "TTC21B" +"NEPHRONOPHTHISIS 13", "WDR19" +"NEPHRONOPHTHISIS 15", "CEP164" +"NEPHRONOPHTHISIS 2", "INVS" +"NEPHRONOPHTHISIS 3", "NPHP3" +"NEPHRONOPHTHISIS 4", "NPHP4" +"NEPHRONOPHTHISIS 7", "GLIS2" +"NEPHRONOPHTHISIS 9", "NEK8" +"NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1", "XPNPEP3" +"CFHR5 DEFICIENCY ", "CFHR5" +"NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS ", "CD151" +"NEPHROTIC SYNDROME, TYPE 1", "NPHS1" +"NEPHROTIC SYNDROME, TYPE 2", "PDCN" +"NEPHROTIC SYNDROME, TYPE 3", "PLCE1" +"NEPHROTIC SYNDROME, TYPE 4", "WT1" +"NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES", "LAMB2" +"NEPHROTIC SYNDROME, TYPE 6", "PTPRO" +"NESTOR-GUILLERMO PROGERIA SYNDROME", "BANF1" +"NETHERTON SYNDROME", "SPINK5" +"NEURAL TUBE DEFECTS", "CCL2" +"NEURAL TUBE DEFECTS", "T" +"NEURAL TUBE DEFECTS", "VANGL1" +"NEURAL TUBE DEFECTS", "FUZ" +"NEUROBLASTOMA, SUSCEPTIBILITY TO, 2", "PMX2B" +"NEUROBLASTOMA, SUSCEPTIBILITY TO", "NME1" +"NEUROBLASTOMA, SUSCEPTIBILITY TO", "KIF1B" +"NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY ", "FOLR1" +"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1", "PANK2" +"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3", "FTL" +"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4", "C19orf12" +"NEUROFIBROMATOSIS, FAMILIAL SPINAL", "NF1" +"NEUROFIBROMATOSIS, TYPE I", "NF1" +"NEUROFIBROMATOSIS, TYPE II", "NF2" +"NEUROFIBROMATOSIS-NOONAN SYNDROME", "NF1" +"NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE", "HINT1" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC", "HSPB3" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB", "REEP1" +"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1", "IGHMBP2" +"NEUROPATHY, CONGENITAL HYPOMYELINATING", "EGR2" +"NEUROPATHY, CONGENITAL HYPOMYELINATING", "MPZ" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA", "HSPB8" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB", "HSPB1" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA", "GARS" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA", "BSCL2" +"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "DCTN1" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA", "SPTLC1" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC", "SPTLC2" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA", "WNK1" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB", "FAM134B" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V", "NGFB" +"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI", "DST" +"NEUROPATHY, HEREDITARY SENSORY, TYPE ID", "ATL1" +"NEUROPATHY, HEREDITARY SENSORY, TYPE IE", "DNMT1" +"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC", "KIF1A" +"NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE ", "CCT5" +"GUILLAIN-BARRE SYNDROME, FAMILIAL", "PMP22" +"NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES", "PMP22" +"NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY", "PNPLA2" +"CYCLIC NEUTROPENIA", "ELANE" +"NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS", "GFI1" +"NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT", "ELANE" +"NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT", "GFI1" +"NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE", "HAX1" +"NEUTROPENIA, SEVERE CONGENITAL, X-LINKED", "WAS" +"NEUTROPHIL IMMUNODEFICIENCY SYNDROME ", "RAC2" +"NEUTROPHILIA, HEREDITARY ", "CSF3R" +"NEVUS, EPIDERMAL", "FGFR3" +"NEVUS, EPIDERMAL", "HRAS" +"NEWFOUNDLAND ROD-CONE DYSTROPHY", "RLBP1" +"NICOLAIDES-BARAITSER SYNDROME", "SMARCA2" +"NIEMANN-PICK DISEASE, TYPE A", "SMPD1" +"NIEMANN-PICK DISEASE, TYPE B", "SMPD1" +"NIEMANN-PICK DISEASE, TYPE C1", "NPC1" +"NIEMANN-PICK DISEASE, TYPE C2 ", "NPC2" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A", "NYX" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A", "CACNA1F" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2", "PDE6B" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3", "GNAT1" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B", "GRM6" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C", "TRPM1" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D", "SLC24A1" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E", "GPR179" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B", "CABP4" +"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1", "RHO" +"NIJMEGEN BREAKAGE SYNDROME", "NBS1" +"NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER", "RAD50" +"NONAKA MYOPATHY", "GNE" +"NOONAN SYNDROME 1", "PTPN11" +"NOONAN SYNDROME 3", "KRAS" +"NOONAN SYNDROME 4", "SOS1" +"NOONAN SYNDROME 5", "RAF1" +"NOONAN SYNDROME 6", "NRAS" +"NOONAN SYNDROME 7", "BRAF" +"NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA", "CBL" +"NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR", "SHOC2" +"NORRIE DISEASE", "NDP" +"LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY", "LCAT" +"NYSTAGMUS 1, CONGENITAL, X-LINKED", "FRMD7" +"NYSTAGMUS 6, CONGENITAL, X-LINKED", "GPR143" +"OSTEOGENESIS IMPERFECTA, TYPE II", "COL1A1" +"OSTEOGENESIS IMPERFECTA, TYPE II", "COL1A2" +"OSTEOGENESIS IMPERFECTA, TYPE III", "COL1A1" +"OSTEOGENESIS IMPERFECTA, TYPE III", "COL1A2" +"OSTEOGENESIS IMPERFECTA, TYPE IV", "COL1A1" +"OSTEOGENESIS IMPERFECTA, TYPE IV", "COL1A2" +"OKT4 EPITOPE DEFICIENCY", "CD4" +"PROPROTEIN CONVERTASE 1/3 DEFICIENCY", "PCSK1" +"PROOPIOMELANOCORTIN DEFICIENCY", "POMC" +"OBESITY", "ADRB2" +"OBESITY", "ADRB3" +"OBESITY", "UCP1" +"OBESITY", "MC4R" +"OBESITY", "ENPP1" +"OBESITY", "POMC" +"OBESITY", "SDC3" +"OBESITY", "PYY" +"OBESITY", "PPARG" +"OBESITY", "UCP3" +"OBESITY", "AGRP" +"OBESITY", "CART" +"OBESITY", "SIM1" +"OBESITY", "NR0B2" +"OBESITY", "GHRL" +"OBESITY", "PPARGC1B" +"OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY ", "NTRK2" +"LEPTIN DEFICIENCY", "LEP" +"LEPTIN RECEPTOR DEFICIENCY", "LEPR" +"OCCIPITAL HORN SYNDROME", "ATP7A" +"OCCULT MACULAR DYSTROPHY", "RP1L1" +"ALBINISM, OCULAR, TYPE I", "GPR143" +"OCULOAURICULAR SYNDROME", "HMX1" +"ALBINISM, OCULOCUTANEOUS, TYPE IV", "SLC45A2" +"OCULODENTODIGITAL DYSPLASIA", "GJA1" +"OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE", "GJA1" +"OCULOPHARYNGEAL MUSCULAR DYSTROPHY", "PABPN1" +"ODONTOONYCHODERMAL DYSPLASIA", "WNT10A" +"OGUCHI DISEASE 1", "SAG" +"OGUCHI DISEASE 2", "GRK1" +"OLIGODONTIA-COLORECTAL CANCER SYNDROME", "AXIN2" +"PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES", "TRPV3" +"OMENN SYNDROME", "RAG1" +"OMENN SYNDROME", "RAG2" +"OMENN SYNDROME", "DCLRE1C" +"OMODYSPLASIA 1", "GPC6" +"OPITZ GBBB SYNDROME, X-LINKED", "MID1" +"OPITZ-KAVEGGIA SYNDROME", "MED12" +"OPTIC ATROPHY 1", "OPA1" +"OPTIC ATROPHY 3, AUTOSOMAL DOMINANT", "OPA3" +"OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY", "OPA1" +"OPTIC ATROPHY 7", "TMEM126A" +"PAPILLORENAL SYNDROME", "PAX2" +"OPTIC NERVE HYPOPLASIA, BILATERAL", "PAX6" +"OROFACIODIGITAL SYNDROME I", "OFD1" +"ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO", "OTC" +"OROFACIAL CLEFT 10", "SUMO1" +"OROFACIAL CLEFT 11", "BMP4" +"OROFACIAL CLEFT 5", "MSX1" +"OROFACIAL CLEFT 6, SUSCEPTIBILITY TO", "IRF6" +"RAPP-HODGKIN SYNDROME", "TP63" +"OROFACIODIGITAL SYNDROME IV", "TCTN3" +"OROTIC ACIDURIA", "UMPS" +"ORTHOSTATIC INTOLERANCE", "SLC6A2" +"OSSEOUS HETEROPLASIA, PROGRESSIVE", "GNAS" +"OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE", "ENPP1" +"OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA ", "COL2A1" +"OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS", "ACAN" +"OSTEOGENESIS IMPERFECTA, TYPE I", "COL1A1" +"OSTEOGENESIS IMPERFECTA, TYPE IX", "PPIB" +"OSTEOGENESIS IMPERFECTA, TYPE V", "IFITM5" +"OSTEOGENESIS IMPERFECTA, TYPE VI", "SERPINF1" +"OSTEOGENESIS IMPERFECTA, TYPE VII", "CRTAP" +"OSTEOGENESIS IMPERFECTA, TYPE VIII", "LEPRE1" +"OSTEOGENESIS IMPERFECTA, TYPE X", "SERPINH1" +"OSTEOGENESIS IMPERFECTA, TYPE XI", "FKBP10" +"OSTEOGENESIS IMPERFECTA, TYPE XII", "SP7" +"OSTEOGENESIS IMPERFECTA, TYPE XIII", "BMP1" +"OSTEOGLOPHONIC DYSPLASIA", "FGFR1" +"FAMILIAL EXPANSILE OSTEOLYSIS", "TNFRSF11A" +"OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS", "FAM123B" +"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1", "LRP5" +"OSTEOPETROSIS, AUTOSOMAL DOMINANT 2", "CLCN7" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1", "TCIRG1" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2", "TNFSF11" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3", "CA2" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4", "CLCN7" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5", "OSTM1" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6", "PLEKHM1" +"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7", "TNFRSF11A" +"OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME", "LRP5" +"OSTEOGENIC SARCOMA", "TP53" +"OSTEOGENIC SARCOMA", "CHEK2" +"OSTEOGENIC SARCOMA", "RB1" +"OTOFACIOCERVICAL SYNDROME", "EYA1" +"OTOPALATODIGITAL SYNDROME, TYPE I", "FLNA" +"OTOPALATODIGITAL SYNDROME, TYPE II", "FLNA" +"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA", "COL2A1" +"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA", "COL11A2" +"OVARIAN DYSGENESIS 1", "FSHR" +"OVARIAN DYSGENESIS 2", "BMP15" +"OVARIAN DYSGENESIS 3", "PSMC3IP" +"OVARIAN HYPERSTIMULATION SYNDROME", "FSHR" +"TWINNING, DIZYGOTIC", "FSHR" +"PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE", "SOX10" +"PACHYONYCHIA CONGENITA, TYPE 2", "KRT6B" +"PACHYONYCHIA CONGENITA, TYPE 2", "KRT17" +"PACHYONYCHIA CONGENITA, TYPE 1", "KRT6A" +"PACHYONYCHIA CONGENITA, TYPE 1", "KRT16" +"PAGET DISEASE OF BONE", "SQSTM1" +"PAGET DISEASE OF BONE", "TNFRSF11A" +"PAGET DISEASE, JUVENILE", "TNFRSF11B" +"PALLISTER-HALL SYNDROME", "GLI3" +"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND", "RSPO1" +"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC", "KRT1" +"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC", "KRT16" +"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL", "KRT16" +"PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS", "GATA6" +"PANCREATIC AGENESIS, CONGENITAL", "IPF1" +"PANCREATIC CANCER", "KRAS" +"PANCREATIC CANCER", "TP53" +"PANCREATIC CANCER, SUSCEPTIBILITY TO, 2", "BRCA2" +"MELANOMA-PANCREATIC CANCER SYNDROME", "CDKN2A" +"PANCREATITIS, HEREDITARY", "SPINK1" +"PANCREATITIS, HEREDITARY", "PRSS1" +"PANCREATITIS, HEREDITARY", "CTRC" +"PANCREATITIS, HEREDITARY", "PRSS2" +"PANCREATITIS, HEREDITARY", "CFTR" +"PANHYPOPITUITARISM, X-LINKED", "SOX3" +"PAPILLON-LEFEVRE SYNDROME", "CTSC" +"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHB" +"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHC" +"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHD" +"PARAGANGLIOMAS 1", "SDHD" +"PARAGANGLIOMAS 2", "SDHAF2" +"PARAGANGLIOMAS 3", "SDHC" +"PARAGANGLIOMAS 4", "SDHB" +"PARAGANGLIOMAS 5", "SDHA" +"PARAMYOTONIA CONGENITA OF VON EULENBURG", "SCN4A" +"PARASTREMMATIC DWARFISM ", "TRPV4" +"PARATHYROID CARCINOMA", "HRPT2" +"PARIETAL FORAMINA", "MSX2" +"PARIETAL FORAMINA 2", "ALX4" +"PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA", "MSX2" +"PARKES WEBER SYNDROME", "RASA1" +"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT", "SNCA" +"PARKINSON DISEASE 11, AUTOSOMAL DOMINANT", "GIGYF2" +"PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO", "HTRA2" +"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE", "PLA2G6" +"PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET", "FBXO7" +"PARKINSON DISEASE 17", "VPS35" +"PARKINSON DISEASE 18", "EIF4G1" +"PARKINSON DISEASE 4, AUTOSOMAL DOMINANT", "SNCA" +"PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET", "PINK1" +"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET", "DJ1" +"PARKINSON DISEASE 8, AUTOSOMAL DOMINANT", "LRRK2" +"KUFOR-RAKEB SYNDROME", "ATP13A2" +"PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE", "PRKN" +"PARKINSONISM-DYSTONIA, INFANTILE", "SLC6A3" +"PAROXYSMAL EXTREME PAIN DISORDER", "SCN9A" +"PAROXYSMAL NOCTURNAL HEMOGLOBINURIA", "PIGA" +"PAROXYSMAL NONKINESIGENIC DYSKINESIA 1", "MR1" +"PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME", "ARX" +"PEELING SKIN SYNDROME", "CDSN" +"PEELING SKIN SYNDROME, ACRAL TYPE", "TGM5" +"PELGER-HUET ANOMALY", "LBR" +"PELIZAEUS-MERZBACHER DISEASE", "PLP1" +"PENDRED SYNDROME", "SLC26A4" +"PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT", "TNFRSF1A" +"PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT ", "HTR1A" +"PERIODONTITIS, AGGRESSIVE, 1", "CTSC" +"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS", "MYH14" +"HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE", "ARFGEF2" +"PERLMAN SYNDROME", "DIS3L2" +"PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY", "ACOX1" +"PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)", "PEX3" +"PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)", "PEX13" +"PEROXISOME BIOGENESIS DISORDER 11B", "PEX13" +"PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)", "PEX19" +"PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)", "PEX14" +"PEROXISOME BIOGENESIS DISORDER 14B", "PEX11B" +"PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)", "PEX1" +"PEROXISOME BIOGENESIS DISORDER 1B", "PEX1" +"PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)", "PEX5" +"PEROXISOME BIOGENESIS DISORDER 2B", "PEX5" +"PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)", "PEX12" +"PEROXISOME BIOGENESIS DISORDER 3B", "PEX12" +"PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)", "PEX6" +"PEROXISOME BIOGENESIS DISORDER 4B", "PEX6" +"PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)", "PXMP3" +"PEROXISOME BIOGENESIS DISORDER 5B", "PXMP3" +"PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)", "PEX10" +"PEROXISOME BIOGENESIS DISORDER 6B", "PEX10" +"PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)", "PEX26" +"PEROXISOME BIOGENESIS DISORDER 7B", "PEX26" +"PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)", "PEX16" +"PEROXISOME BIOGENESIS DISORDER 8B", "PEX16" +"PEROXISOME BIOGENESIS DISORDER 9B", "PEX7" +"PERRAULT SYNDROME 2", "HARS2" +"PERRAULT SYNDROME 1", "HSD17B4" +"PERRY SYNDROME", "DCTN1" +"PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II", "AMHR2" +"PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II", "AMH" +"PETERS ANOMALY ", "PITX2" +"PETERS ANOMALY ", "CYP1B1" +"PETERS ANOMALY ", "PAX6" +"PETERS-PLUS SYNDROME", "B3GALTL; B3GTL" +"PEUTZ-JEGHERS SYNDROME", "STK11" +"PFEIFFER SYNDROME", "FGFR1" +"PFEIFFER SYNDROME", "FGFR2" +"CHROMOSOME 22q13.3 DELETION SYNDROME", "SHANK3" +"PHENYLKETONURIA", "PAH" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "MAX" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "RET" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "SDHB" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "GDNF" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "SDHD" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "KIF1B" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "VHL" +"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "TMEM127" +"PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY", "PHGDH" +"PHOSPHOGLYCERATE KINASE 1 DEFICIENCY", "PGK1" +"GLYCOGEN STORAGE DISEASE IXb", "PHKB" +"PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY", "PSAT1" +"PHOSPHOSERINE PHOSPHATASE DEFICIENCY", "PSP" +"PICK DISEASE OF BRAIN", "PSEN1" +"PICK DISEASE OF BRAIN", "MAPT" +"PIEBALD TRAIT", "KIT" +"PIEBALD TRAIT", "SNAI2" +"PIERSON SYNDROME", "LAMB2" +"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1", "PRKAR1A" +"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2", "PDE11A" +"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3", "PDE8B" +"PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY", "CRB1" +"PITT-HOPKINS SYNDROME", "TCF4" +"PITT-HOPKINS-LIKE SYNDROME 2", "NRXN1" +"PITUITARY ADENOMA, ACTH-SECRETING", "AIP" +"PITUITARY ADENOMA, PROLACTIN-SECRETING", "AIP" +"PITUITARY HORMONE DEFICIENCY, COMBINED, 1", "POU1F1" +"PITUITARY HORMONE DEFICIENCY, COMBINED, 2", "PROP1" +"PITUITARY HORMONE DEFICIENCY, COMBINED, 3", "LHX3" +"PITUITARY HORMONE DEFICIENCY, COMBINED, 4", "LHX4" +"PITUITARY HORMONE DEFICIENCY, COMBINED, 6", "OTX2" +"PITYRIASIS RUBRA PILARIS", "CARD14" +"PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY", "PAI1" +"PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY", "RUNX1" +"PLATELET GLYCOPROTEIN IV DEFICIENCY", "CD36" +"PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY", "PLA2G7" +"PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE", "COL2A1" +"PLEUROPULMONARY BLASTOMA", "DICER1" +"PNEUMOTHORAX, PRIMARY SPONTANEOUS", "FLCN" +"POIKILODERMA WITH NEUTROPENIA", "C16orf57" +"POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE", "FCYT" +"POLYCYSTIC KIDNEY DISEASE 2", "PKD2" +"POLYCYSTIC KIDNEY DISEASE 1", "PKD1" +"POLYCYSTIC LIVER DISEASE", "PRKCSH" +"POLYCYSTIC LIVER DISEASE", "SEC63" +"POLYCYTHEMIA VERA", "JAK2" +"POLYDACTYLY, POSTAXIAL, TYPE A1", "GLI3" +"POLYDACTYLY, PREAXIAL II", "LMBR1" +"POLYDACTYLY, PREAXIAL IV", "GLI3" +"POLYGLUCOSAN BODY DISEASE, ADULT FORM", "GBE1" +"POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY", "STRADA" +"POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA ", "TUBA8" +"POLYMICROGYRIA WITH SEIZURES", "RTTN" +"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL", "GPR56" +"POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC", "TUBB2B" +"POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT", "ABHD12" +"POLYPOSIS SYNDROME, HEREDITARY MIXED, 2", "BMPR1A" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 1A", "VRK1" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 2A", "TSEN54" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 2B", "TSEN2" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 2C", "TSEN34" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 2D", "SEPSECS" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 4", "TSEN54" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B", "EXOSC3" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 6", "RARS2" +"PONTOCEREBELLAR HYPOPLASIA, TYPE 8", "CHMP1A" +"POPLITEAL PTERYGIUM SYNDROME", "IRF6" +"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE", "RIPK4" +"PORENCEPHALY 1", "COL4A1" +"PORENCEPHALY 2", "COL4A2" +"POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE", "MVK" +"POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE", "SART3" +"PORPHYRIA CUTANEA TARDA", "UROD" +"PORPHYRIA CUTANEA TARDA", "HFE" +"PORPHYRIA VARIEGATA", "PPOX" +"PORPHYRIA VARIEGATA", "HFE" +"PORPHYRIA, ACUTE HEPATIC", "ALAD" +"PORPHYRIA, ACUTE INTERMITTENT", "HMBS" +"PORPHYRIA, CONGENITAL ERYTHROPOIETIC", "UROS" +"PRADER-WILLI SYNDROME", "SNRPN" +"PRADER-WILLI SYNDROME", "NDN" +"PRECOCIOUS PUBERTY, CENTRAL ", "KISS1R" +"PREECLAMPSIA/ECLAMPSIA 4", "STOX1" +"PREECLAMPSIA/ECLAMPSIA 5", "CORIN" +"PREMATURE OVARIAN FAILURE 1", "FMR1" +"PREMATURE OVARIAN FAILURE 2B", "FLJ22792" +"PREMATURE OVARIAN FAILURE 3", "FOXL2" +"PREMATURE OVARIAN FAILURE 5", "NOBOX" +"PREMATURE OVARIAN FAILURE 6", "FIGLA" +"PREMATURE OVARIAN FAILURE 7", "NR5A1" +"PREMATURE OVARIAN FAILURE 2A", "DIAPH2" +"PRIMARY LATERAL SCLEROSIS, JUVENILE", "ALS2" +"SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES ", "PRNP" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2", "SLC25A4" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4", "POLG2" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 5", "RRM2B" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1", "POLG" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3", "C10orf2" +"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE", "POLG" +"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB", "TRPM4" +"PROLIDASE DEFICIENCY ", "PEPD" +"PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME", "FLVCR2" +"PROPERDIN DEFICIENCY, X-LINKED", "PFC" +"PROPIONIC ACIDEMIA", "PCCA" +"PROPIONIC ACIDEMIA", "PCCB" +"PROSTATE CANCER, HEREDITARY, 1", "RNASEL" +"PROSTATE CANCER ", "ZFHX3" +"PROSTATE CANCER ", "MSR1" +"PROSTATE CANCER ", "CDH1" +"PROSTATE CANCER ", "AR" +"PROSTATE CANCER ", "MXI1" +"PROSTATE CANCER ", "BRCA2" +"PROSTATE CANCER ", "PTEN" +"PROSTATE CANCER ", "KLF6" +"PROSTATE CANCER ", "MAD1L1" +"PROSTATE CANCER ", "CHEK2" +"PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY", "EPHB2" +"PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS ", "CLCN5" +"PROTEUS SYNDROME", "AKT1" +"PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED", "ALAS2" +"PROTOPORPHYRIA, ERYTHROPOIETIC", "FECH" +"CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA", "ARX" +"PSEUDOACHONDROPLASIA", "COMP" +"17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY", "HSD17B3" +"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT", "NR3C2" +"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1A" +"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1B" +"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1G" +"PSEUDOHYPOALDOSTERONISM, TYPE IIB", "WNK4" +"PSEUDOHYPOALDOSTERONISM, TYPE IIC", "WNK1" +"PSEUDOHYPOALDOSTERONISM, TYPE IID", "KLHL3" +"PSEUDOHYPOALDOSTERONISM, TYPE IIE", "CUL3" +"PSEUDOHYPOPARATHYROIDISM, TYPE IA", "GNAS" +"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "GNAS" +"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "STX16" +"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "GNASAS1" +"PSEUDOHYPOPARATHYROIDISM, TYPE IC", "GNAS" +"PSEUDOPSEUDOHYPOPARATHYROIDISM", "GNAS" +"PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS", "SRD5A2" +"PSEUDOXANTHOMA ELASTICUM", "ABCC6" +"PSEUDOXANTHOMA ELASTICUM", "XYLT1" +"PSEUDOXANTHOMA ELASTICUM", "XYLT2" +"PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE", "ABCC6" +"PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY", "GGCX" +"PUSTULAR PSORIASIS, GENERALIZED", "IL36RN" +"PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM", "SNIP1" +"PULMONARY ALVEOLAR MICROLITHIASIS ", "SLC34A2" +"PULMONARY FIBROSIS, IDIOPATHIC", "SFTPA1" +"PULMONARY FIBROSIS, IDIOPATHIC", "SFTPA2" +"PULMONARY FIBROSIS, IDIOPATHIC", "MUC5B" +"PULMONARY HYPERTENSION, PRIMARY, 1", "BMPR2" +"PULMONARY HYPERTENSION, PRIMARY, 1", "MADH9" +"PULMONARY VENOOCCLUSIVE DISEASE", "BMPR2" +"PYCNODYSOSTOSIS", "CTSK" +"MYD88 DEFICIENCY", "MYD88" +"PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE", "PSTPIP1" +"PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY", "PNPO" +"PYROPOIKILOCYTOSIS, HEREDITARY", "SPTA1" +"PYRUVATE CARBOXYLASE DEFICIENCY", "PC" +"PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY", "PDHA1" +"PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY", "PDHB" +"PYRUVATE DEHYDROGENASE E2 DEFICIENCY", "DLAT" +"PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY", "LIAS" +"PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY", "PDP1" +"PYRUVATE KINASE DEFICIENCY OF RED CELLS", "PKLR" +"QUEBEC PLATELET DISORDER", "PLAU" +"RAPADILINO SYNDROME ", "RECQL4" +"RETINITIS PIGMENTOSA 62", "MAK" +"RIDDLE SYNDROME", "RNF168" +"PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES", "INSR" +"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA", "HOXA11" +"RAINE SYNDROME", "FAM20C" +"RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1", "RNF212" +"REFSUM DISEASE, CLASSIC", "PHYH" +"RENAL ADYSPLASIA", "RET" +"RENAL ADYSPLASIA", "UPK3A" +"RENAL CELL CARCINOMA, NONPAPILLARY", "HNF1A" +"RENAL CELL CARCINOMA, NONPAPILLARY", "HNF1B" +"RENAL CELL CARCINOMA, NONPAPILLARY", "OGG1" +"RENAL CELL CARCINOMA, NONPAPILLARY", "RNF139" +"RENAL CELL CARCINOMA, NONPAPILLARY", "FLCN" +"RENAL CELL CARCINOMA, NONPAPILLARY", "VHL" +"RENAL CELL CARCINOMA, Xp11-ASSOCIATED", "TFE3" +"RENAL CELL CARCINOMA, PAPILLARY, 1", "MET" +"RENAL CELL CARCINOMA, PAPILLARY, 1", "PRCC" +"RENAL CYSTS AND DIABETES SYNDROME", "HNF1B" +"RENAL GLUCOSURIA", "SLC5A2" +"RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS", "ATP6B1" +"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT", "SLC4A1" +"RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA", "SLC4A1" +"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE", "ATP6V0A4" +"RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION", "SLC4A4" +"RENAL TUBULAR DYSGENESIS", "AGT" +"RENAL TUBULAR DYSGENESIS", "AGTR1" +"RENAL TUBULAR DYSGENESIS", "ACE" +"RENAL TUBULAR DYSGENESIS", "REN" +"RENAL-HEPATIC-PANCREATIC DYSPLASIA", "NPHP3" +"RENPENNING SYNDROME 1", "PQBP1" +"RESTRICTIVE DERMOPATHY, LETHAL", "LMNA" +"RESTRICTIVE DERMOPATHY, LETHAL", "ZMPSTE24" +"RETICULAR DYSGENESIS", "AK2" +"RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS", "IGFBP7" +"RETINAL CONE DYSTROPHY 3B", "KCNV2" +"RETINAL CONE DYSTROPHY 4", "CACNA2D4" +"LATE-ONSET RETINAL DEGENERATION", "C1QTNF5" +"RETINITIS PIGMENTOSA 1", "RP1" +"RETINITIS PIGMENTOSA 10", "IMPDH1" +"RETINITIS PIGMENTOSA 11", "PRPF31" +"RETINITIS PIGMENTOSA 13", "PRPF8" +"RETINITIS PIGMENTOSA 14", "TULP1" +"RETINITIS PIGMENTOSA 17", "CA4" +"RETINITIS PIGMENTOSA 18", "HPRP3" +"RETINITIS PIGMENTOSA 19", "ABCA4" +"RETINITIS PIGMENTOSA 2", "RP2" +"RETINITIS PIGMENTOSA 20", "RPE65" +"RETINITIS PIGMENTOSA 25", "EYS" +"RETINITIS PIGMENTOSA 26", "CERKL" +"RETINITIS PIGMENTOSA 27", "NRL" +"RETINITIS PIGMENTOSA 28", "FAM161A" +"RETINITIS PIGMENTOSA 3", "RPGR" +"RETINITIS PIGMENTOSA 30", "FSCN2" +"RETINITIS PIGMENTOSA 31", "TOPORS" +"RETINITIS PIGMENTOSA 33", "SNRNP200" +"RETINITIS PIGMENTOSA 35", "SEMA4A" +"RETINITIS PIGMENTOSA 36", "PRCD" +"RETINITIS PIGMENTOSA 37", "NR2E3" +"RETINITIS PIGMENTOSA 38", "MERTK" +"RETINITIS PIGMENTOSA 39", "USH2A" +"RETINITIS PIGMENTOSA 4", "RHO" +"RETINITIS PIGMENTOSA 41", "PROM1" +"RETINITIS PIGMENTOSA 42", "KLHL7" +"RETINITIS PIGMENTOSA 43", "PDE6A" +"RETINITIS PIGMENTOSA 44", "RGR" +"RETINITIS PIGMENTOSA 45", "CNGB1" +"RETINITIS PIGMENTOSA 46", "IDH3B" +"RETINITIS PIGMENTOSA 47", "SAG" +"RETINITIS PIGMENTOSA 48", "GUCA1B" +"RETINITIS PIGMENTOSA 49", "CNGA1" +"RETINITIS PIGMENTOSA 51", "TTC8" +"RETINITIS PIGMENTOSA 54", "C2orf71" +"RETINITIS PIGMENTOSA 55", "ARL6" +"RETINITIS PIGMENTOSA 57", "PDE6G" +"RETINITIS PIGMENTOSA 58", "ZNF513" +"RETINITIS PIGMENTOSA 59", "DHDDS" +"RETINITIS PIGMENTOSA 60", "PRPF6" +"RETINITIS PIGMENTOSA 61", "CLRN1" +"RETINITIS PIGMENTOSA 7", "PRPH2" +"RETINITIS PIGMENTOSA 9", "RP9" +"RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS ", "RPGR" +"RETINITIS PIGMENTOSA 50", "BEST1" +"RETINITIS PIGMENTOSA 12", "CRB1" +"RETINITIS PIGMENTOSA 40", "PDE6B" +"RETINOBLASTOMA", "RB1" +"RETINOSCHISIS 1, X-LINKED, JUVENILE", "RS1" +"RETT SYNDROME", "MECP2" +"RETT SYNDROME, CONGENITAL VARIANT ", "FOXG1" +"REVESZ SYNDROME", "TINF2" +"REYNOLDS SYNDROME", "LBR" +"RHABDOID TUMOR PREDISPOSITION SYNDROME 1", "SMARCB1" +"RHABDOID TUMOR PREDISPOSITION SYNDROME 2", "SMARCA4" +"RHABDOMYOSARCOMA 2", "FOXO1A" +"RHABDOMYOSARCOMA 2", "PAX7" +"RHABDOMYOSARCOMA 2", "PAX3" +"RHABDOMYOSARCOMA 1", "SLC22A1L" +"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1", "PEX7" +"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3", "AGPS" +"RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY ", "RPIA" +"VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B", "CYP2R1" +"VITAMIN D-DEPENDENT RICKETS, TYPE 2A", "VDR" +"RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL", "BRAT1" +"RING DERMOID OF CORNEA", "PITX2" +"RIPPLING MUSCLE DISEASE", "CAV3" +"ROBERTS SYNDROME", "ESCO2" +"ROBINOW SYNDROME, AUTOSOMAL DOMINANT", "WNT5A" +"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE", "ROR2" +"ROBINOW-SORAUF SYNDROME", "TWIST1" +"ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED", "SRPX2" +"ROTHMUND-THOMSON SYNDROME", "RECQL4" +"ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA", "MPZ" +"ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA", "PMP22" +"RUBINSTEIN-TAYBI SYNDROME 2", "EP300" +"RUBINSTEIN-TAYBI SYNDROME 1", "CREBBP" +"OHDO SYNDROME, SBBYS VARIANT", "KAT6B" +"SC PHOCOMELIA SYNDROME", "ESCO2" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE", "JAK3" +"SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA", "COL2A1" +"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE", "TRPV4" +"BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES", "PAPSS2" +"46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS", "WNT4" +"SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE", "KCNJ10" +"SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME", "HRAS" +"SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME", "KRAS" +"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE", "COL2A1" +"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS", "FAM58A" +"SAETHRE-CHOTZEN SYNDROME", "FGFR2" +"SAETHRE-CHOTZEN SYNDROME", "TWIST1" +"SIALURIA, FINNISH TYPE", "SLC17A5" +"SANDHOFF DISEASE", "HEXB" +"SARCOIDOSIS, EARLY-ONSET", "NOD2" +"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION ", "FGFR2" +"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT", "FHL1" +"SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY", "TRPV4" +"SCAPULOPERONEAL MYOPATHY, MYH7-RELATED", "MYH7" +"SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE", "DES" +"IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE", "SMARCAL1" +"SCHINDLER DISEASE, TYPE I", "NAGA" +"SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME", "SETBP1" +"SCHIZENCEPHALY ", "EMX2" +"SCHIZENCEPHALY ", "SHH" +"SCHIZENCEPHALY ", "SIX3" +"SCHNECKENBECKEN DYSPLASIA", "SLC35D1" +"SCHOPF-SCHULZ-PASSARGE SYNDROME", "WNT10A" +"SCHWANNOMATOSIS", "NF2" +"SCHWARTZ-JAMPEL SYNDROME, TYPE 1", "HSPG2" +"SCLEROSTEOSIS 2", "LRP4" +"SCLEROSTEOSIS 1", "SOST" +"SCOTT SYNDROME", "ANO6" +"SEA-BLUE HISTIOCYTE DISEASE", "APOE" +"SEBASTIAN SYNDROME", "MYH9" +"SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS ", "ZNF750" +"SECKEL SYNDROME 1", "ATR" +"SECKEL SYNDROME 2", "RBBP8" +"SECKEL SYNDROME 4", "CENPJ" +"SECKEL SYNDROME 5", "CEP152" +"SECKEL SYNDROME 6", "CEP63" +"SECKEL SYNDROME 7", "NIN" +"SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "TH" +"SEIZURES, BENIGN FAMILIAL INFANTILE, 2", "PRRT2" +"SEIZURES, BENIGN FAMILIAL INFANTILE, 3", "SCN2A" +"SEIZURES, BENIGN FAMILIAL NEONATAL, 2", "KCNQ3" +"SELECTIVE T-CELL DEFECT", "ZAP70" +"SENGERS SYNDROME", "AGK" +"SENIOR-LOKEN SYNDROME 4", "NPHP4" +"SENIOR-LOKEN SYNDROME 5", "IQCB1" +"SENIOR-LOKEN SYNDROME 6", "CEP290" +"SENIOR-LOKEN SYNDROME 7", "SDCCAG8" +"SENIOR-LOKEN SYNDROME 1", "NPHP1" +"FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE", "TWIST2" +"SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,", "NHEJ1" +"SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION", "LIG4" +"SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION", "DCLRE1C" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE", "RAG1" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE", "RAG2" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "IL7R" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "PTPRC" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "CD3D" +"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "CD3E" +"SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED", "IL2RG" +"SHORT QT SYNDROME 1", "KCNH2" +"SHORT QT SYNDROME 2", "KCNQ1" +"SHORT QT SYNDROME 3", "KCNJ2" +"SHORT RIB-POLYDACTYLY SYNDROME, TYPE II", "DYNC2H1" +"SHORT RIB-POLYDACTYLY SYNDROME, TYPE II", "NEK1" +"SHORT RIB-POLYDACTYLY SYNDROME, TYPE III", "DYNC2H1" +"SHORT RIB-POLYDACTYLY SYNDROME, TYPE V", "WDR35" +"SHORT STATURE, IDIOPATHIC, AUTOSOMAL", "GHR" +"SHORT STATURE, IDIOPATHIC, AUTOSOMAL", "GHSR" +"SHORT STATURE, IDIOPATHIC, X-LINKED", "SHOX" +"SHORT STATURE, IDIOPATHIC, X-LINKED", "SHOXY" +"SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS", "POC1A" +"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY", "NBAS" +"SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME", "SKI" +"SHWACHMAN-DIAMOND SYNDROME", "SBDS" +"INFANTILE SIALIC ACID STORAGE DISORDER", "SLC17A5" +"NEURAMINIDASE DEFICIENCY", "NEU1" +"SIALURIA", "GNE" +"SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE", "SCN5A" +"SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT", "HCN4" +"SICKLE CELL ANEMIA ", "HBB" +"SPASTIC PARAPLEGIA 17", "BSCL2" +"SILVER-RUSSELL SYNDROME", "H19" +"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1", "GPC3" +"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2", "OFD1" +"SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR", "SHH" +"SINOATRIAL NODE DYSFUNCTION AND DEAFNESS", "CACNA1D" +"SITOSTEROLEMIA", "ABCG5" +"SITOSTEROLEMIA", "ABCG8" +"SJOGREN-LARSSON SYNDROME", "ALDH3A2" +"SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION ", "ZBTB16" +"SKIN FRAGILITY-WOOLLY HAIR SYNDROME", "DSP" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11", "TYRP1" +"SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT ", "ARHGEF10" +"SMALL CELL CANCER OF THE LUNG", "RB1" +"SMALL PATELLA SYNDROME", "TBX4" +"SMITH-LEMLI-OPITZ SYNDROME", "DHCR7" +"SMITH-MAGENIS SYNDROME", "RAI1" +"SMITH-MCCORT DYSPLASIA", "DYM" +"VITREORETINAL DEGENERATION, SNOWFLAKE TYPE", "KCNJ13" +"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY", "TIMP3" +"SOTOS SYNDROME 1", "NSD1" +"SOTOS SYNDROME 2", "NFIX" +"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE", "SACS" +"SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING", "ALS2" +"SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT", "KIF5A" +"SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE", "SPG11" +"SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT", "RTN2" +"SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT", "HSPD1" +"SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE", "ZFYVE26" +"SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE", "ERLIN2" +"SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE", "KIF1A" +"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT", "REEP1" +"SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT", "ZFYVE27" +"SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE", "FA2H" +"SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE", "PNPLA6" +"SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT", "ATL1" +"SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT", "SPAST" +"SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT", "SLC33A1" +"SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE", "AP4B1" +"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE", "AP5A1" +"SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE", "AP4M1" +"SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE", "AP4E1" +"SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE", "AP4S1" +"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE", "VPS37A" +"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE", "CYP7B1" +"SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT", "NIPA1" +"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE", "PGN" +"SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT", "KIAA0196" +"SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE", "GJC2" +"SPASTIC PARAPLEGIA 2, X-LINKED", "PLP1" +"SPECIFIC GRANULE DEFICIENCY", "CEBPE" +"SPEECH-LANGUAGE DISORDER 1", "FOXP2" +"SPERMATOGENIC FAILURE 10", "SEPT12" +"SPERMATOGENIC FAILURE 4", "SYCP3" +"SPERMATOGENIC FAILURE 5", "STK13" +"SPERMATOGENIC FAILURE 6", "SPATA16" +"SPERMATOGENIC FAILURE 7", "CATSPER1" +"SPERMATOGENIC FAILURE 8", "NR5A1" +"SPERMATOGENIC FAILURE 9", "DPY19L2" +"SPERMATOGENIC FAILURE, Y-LINKED, 2", "USP9Y" +"SPHEROCYTOSIS, TYPE 5", "EPB42" +"SPHEROCYTOSIS, TYPE 1", "ANK1" +"SPHEROCYTOSIS, TYPE 3", "SPTA1" +"SPHEROCYTOSIS, TYPE 4", "SLC4A1" +"SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1", "AR" +"SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY", "ASAH1" +"SPINAL MUSCULAR ATROPHY, X-LINKED 2", "UBA1" +"SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3", "ATP7A" +"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4", "PLEKHG5" +"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5", "DNAJB2" +"SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE", "TRPV4" +"SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT", "VAPB" +"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT", "DYNC1H1" +"SPINAL MUSCULAR ATROPHY, TYPE I", "SMN1" +"SPINAL MUSCULAR ATROPHY, TYPE II", "SMN1" +"SPINAL MUSCULAR ATROPHY, TYPE III", "SMN1" +"SPINAL MUSCULAR ATROPHY, TYPE III", "SMN2" +"SPINAL MUSCULAR ATROPHY, TYPE IV", "SMN1" +"SPINOCEREBELLAR ATAXIA 1", "ATXN1" +"SPINOCEREBELLAR ATAXIA 10", "ATXN10" +"SPINOCEREBELLAR ATAXIA 11", "TTBK2" +"SPINOCEREBELLAR ATAXIA 12", "PPP2R2B" +"SPINOCEREBELLAR ATAXIA 13", "KCNC3" +"SPINOCEREBELLAR ATAXIA 14", "PRKCG" +"SPINOCEREBELLAR ATAXIA 15", "ITPR1" +"SPINOCEREBELLAR ATAXIA 17", "TBP" +"SPINOCEREBELLAR ATAXIA 2", "ATXN2" +"SPINOCEREBELLAR ATAXIA 23", "PDYN" +"SPINOCEREBELLAR ATAXIA 27", "FGF14" +"SPINOCEREBELLAR ATAXIA 28", "AFG3L2" +"SPINOCEREBELLAR ATAXIA 31", "BEAN" +"SPINOCEREBELLAR ATAXIA 35", "TGM6" +"SPINOCEREBELLAR ATAXIA 36", "NOP56" +"SPINOCEREBELLAR ATAXIA 5", "SPTBN2" +"SPINOCEREBELLAR ATAXIA 6", "CACNA1A" +"SPINOCEREBELLAR ATAXIA 7", "ATXN7" +"SPINOCEREBELLAR ATAXIA 8", "ATXN8OS" +"SPINOCEREBELLAR ATAXIA 8", "ATXN8" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10", "ANO10" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11", "SYT14" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13", "GRM1" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5", "ZNF592" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8", "SYNE1" +"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY", "TDP1" +"SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS", "DLX5" +"SPLIT-HAND/FOOT MALFORMATION 4", "TP63" +"SPLIT-HAND/FOOT MALFORMATION 6", "WNT10B" +"SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA", "NKX3-2" +"SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "FLNB" +"SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE", "SLC39A13" +"SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE", "HES7" +"SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE", "MESP2" +"SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE", "LFNG" +"SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE", "DLL3" +"SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION", "ACP5" +"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2", "KIF22" +"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED", "MATN3" +"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE", "ACAN" +"SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED", "TRAPPC2" +"SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS", "CHST3" +"SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE", "ACAN" +"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE", "DDR2" +"SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE", "TRPV4" +"SPONDYLOPERIPHERAL DYSPLASIA", "COL2A1" +"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "ING1" +"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "PTEN" +"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "TNFRSF10B" +"STAPES ANKYLOSIS WITH BROAD THUMB AND TOES", "NOG" +"STARGARDT DISEASE 4", "PROM1" +"STEATOCYSTOMA MULTIPLEX", "KRT17" +"STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR", "COL2A1" +"STICKLER SYNDROME, TYPE I", "COL2A1" +"STICKLER SYNDROME, TYPE II", "COL11A1" +"STICKLER SYNDROME, TYPE III", "COL11A2" +"STICKLER SYNDROME, TYPE IV", "COL9A1" +"STICKLER SYNDROME, TYPE V", "COL9A2" +"STIFF SKIN SYNDROME", "FBN1" +"STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME", "SHROOM4" +"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT", "PDE8B" +"STRIATONIGRAL DEGENERATION, INFANTILE", "NUP62" +"STUVE-WIEDEMANN SYNDROME", "LIFR" +"SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY", "ALDH5A1" +"SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY", "OXCT1" +"SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL", "SI" +"SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME", "TSPYL1" +"SULFOCYSTEINURIA", "SUOX" +"PARKINSON-DEMENTIA SYNDROME", "MAPT" +"SUPRANUCLEAR PALSY, PROGRESSIVE, 1", "MAPT" +"SUPRAVALVULAR AORTIC STENOSIS", "ELN" +"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1", "SFTPB" +"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2", "SFTPC" +"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3", "ABCA3" +"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4", "CSF2RA" +"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5", "CSF2RB" +"SVEINSSON CHORIORETINAL ATROPHY", "TEAD1" +"SYMPHALANGISM, PROXIMAL", "GDF5" +"SYMPHALANGISM, PROXIMAL", "NOG" +"SYNDACTYLY, TYPE III", "GJA1" +"SYNDACTYLY, TYPE IV", "LMBR1" +"SYNDACTYLY, TYPE V", "HOXD13" +"SYNPOLYDACTYLY 1", "HOXD13" +"SYNPOLYDACTYLY 2", "FBLN1" +"SYSTEMIC LUPUS ERYTHEMATOSUS 16", "DNASE1L3" +"T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY ", "FOXN1" +"T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS", "STK4" +"TARP SYNDROME", "RBM10" +"TANGIER DISEASE", "ABCA1" +"TARSAL-CARPAL COALITION SYNDROME", "NOG" +"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER", "ENG" +"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2", "ACVRL1" +"TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME", "CHSY1" +"TERMINAL OSSEOUS DYSPLASIA", "FLNA" +"TETRAAMELIA, AUTOSOMAL RECESSIVE ", "WNT3" +"TETRALOGY OF FALLOT", "NKX2-5" +"TETRALOGY OF FALLOT", "GATA6" +"TETRALOGY OF FALLOT", "JAG1" +"TETRALOGY OF FALLOT", "GDF1" +"TETRALOGY OF FALLOT", "ZFPM2" +"BETA-THALASSEMIA ", "HBB" +"BETA-THALASSEMIA ", "LCRB" +"ALPHA-THALASSEMIA ", "HBA1" +"ALPHA-THALASSEMIA ", "HBA2" +"BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE", "HBB" +"THANATOPHORIC DYSPLASIA, TYPE I", "FGFR3" +"THANATOPHORIC DYSPLASIA, TYPE II", "FGFR3" +"THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)", "SLC19A3" +"THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)", "SLC25A19" +"THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)", "TPK1" +"THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME", "SLC19A2" +"THREE M SYNDROME 3", "CCDC8" +"THROMBOCYTHEMIA 1", "THPO" +"THROMBOCYTHEMIA 1", "SH2B3" +"THROMBOCYTHEMIA 2", "MPL" +"THROMBOCYTHEMIA 3", "JAK2" +"THROMBOCYTOPENIA 2", "MASTL" +"THROMBOCYTOPENIA 2", "ANKRD26" +"THROMBOCYTOPENIA 4", "CYCS" +"THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED", "GATA1" +"THROMBOCYTOPENIA 1", "WAS" +"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA", "GATA1" +"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL", "MPL" +"THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME", "RBM8A" +"THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY", "HRG" +"THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE", "F5" +"ANTITHROMBIN III DEFICIENCY", "SERPINC1" +"HEPARIN COFACTOR II DEFICIENCY", "HCF2" +"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "PROC" +"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE", "PROC" +"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT", "PROS1" +"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE", "PROS1" +"THROMBOPHILIA DUE TO THROMBIN DEFECT", "F13A1" +"THROMBOPHILIA DUE TO THROMBIN DEFECT", "F2" +"THROMBOPHILIA DUE TO THROMBIN DEFECT", "HABP2" +"THROMBOPHILIA DUE TO THROMBIN DEFECT", "MTHFR" +"THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT", "THBD" +"THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT", "F9" +"THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL", "ADAMTS13" +"THYROID DYSHORMONOGENESIS 6", "DUOX2" +"THYROID CARCINOMA, FOLLICULAR", "NRAS" +"THYROID CARCINOMA, FOLLICULAR", "HRAS" +"THYROID CARCINOMA, FOLLICULAR", "PTEN" +"THYROID CARCINOMA, FOLLICULAR", "MINPP1" +"THYROID CARCINOMA, PAPILLARY", "PRKAR1A" +"THYROID CARCINOMA, PAPILLARY", "PCM1" +"THYROID CARCINOMA, PAPILLARY", "NCOA4" +"THYROID CARCINOMA, PAPILLARY", "TRIM24" +"THYROID CARCINOMA, PAPILLARY", "TRIM33" +"THYROID CARCINOMA, PAPILLARY", "GOLGA5" +"THYROID DYSHORMONOGENESIS 1", "SLC5A5" +"THYROID DYSHORMONOGENESIS 2A", "TPO" +"THYROID DYSHORMONOGENESIS 3", "TG" +"THYROID DYSHORMONOGENESIS 4", "IYD" +"THYROID DYSHORMONOGENESIS 5", "DUOXA2" +"THYROID HORMONE METABOLISM, ABNORMAL ", "SECISBP2" +"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT", "THRB" +"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE", "THRB" +"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY", "THRB" +"TIBIAL MUSCULAR DYSTROPHY, TARDIVE", "TTN" +"TIETZ SYNDROME", "MITF" +"TIMOTHY SYNDROME", "CACNA1C" +"TN SYNDROME", "C1GALT1C1" +"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8", "COL7A1" +"TOOTH AGENESIS, SELECTIVE, 1", "MSX1" +"TOOTH AGENESIS, SELECTIVE, 3", "PAX9" +"TOOTH AGENESIS, SELECTIVE, 4", "WNT10A" +"TOOTH AGENESIS, SELECTIVE, 6", "LTBP3" +"TOOTH AGENESIS, SELECTIVE, X-LINKED, 1", "ED1" +"TORG-WINCHESTER SYNDROME", "MMP2" +"GILLES DE LA TOURETTE SYNDROME", "SLITRK1" +"TOWNES-BROCKS SYNDROME", "SALL1" +"TRANSALDOLASE DEFICIENCY ", "TALDO1" +"TRANSCOBALAMIN II DEFICIENCY", "TCN2" +"TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN", "COL7A1" +"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3", "GDF1" +"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1", "MED13L" +"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2", "CFC1" +"TREACHER COLLINS SYNDROME 1", "TCOF1" +"TREACHER COLLINS SYNDROME 2", "POLR1D" +"TREACHER COLLINS SYNDROME 3", "POLR1C" +"TREMOR, HEREDITARY ESSENTIAL, 4", "FUS" +"TRICHODENTOOSSEOUS SYNDROME", "DLX3" +"TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1", "CYLD" +"TRICHOHEPATOENTERIC SYNDROME 1", "TTC37" +"TRICHOHEPATOENTERIC SYNDROME 2", "SKIV2L" +"TRICHORHINOPHALANGEAL SYNDROME, TYPE I", "TRPS1" +"TRICHORHINOPHALANGEAL SYNDROME, TYPE III", "TRPS1" +"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "ERCC2" +"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "ERCC3" +"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "GTF2H5" +"TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1", "C7orf11" +"TRICHOTILLOMANIA", "SLITRK1" +"TRIFUNCTIONAL PROTEIN DEFICIENCY", "HADHB" +"TRIFUNCTIONAL PROTEIN DEFICIENCY", "HADHA" +"TRIGONOCEPHALY 1", "FGFR1" +"TRIGONOCEPHALY 2", "FREM1" +"TRIMETHYLAMINURIA", "FMO3" +"ARTHROGRYPOSIS, DISTAL, TYPE 7", "MYH8" +"TROPICAL CALCIFIC PANCREATITIS", "SPINK1" +"SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE", "SPG20" +"TUBEROUS SCLEROSIS 1", "TSC1" +"TUBEROUS SCLEROSIS 2", "IFNG" +"TUBEROUS SCLEROSIS 2", "TSC2" +"TUMOR PREDISPOSITION SYNDROME", "BAP1" +"TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL", "SAMD9" +"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "GALNT3" +"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "KL" +"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "FGF23" +"TYLOSIS WITH ESOPHAGEAL CANCER", "RHBDF2" +"TYROSINE KINASE 2 DEFICIENCY", "TYK2" +"TYROSINEMIA, TYPE I", "FAH" +"TYROSINEMIA, TYPE II", "TAT" +"TYROSINEMIA, TYPE III", "HPD" +"UV-SENSITIVE SYNDROME 1", "ERCC6" +"UV-SENSITIVE SYNDROME 2", "ERCC8" +"UV-SENSITIVE SYNDROME 3", "UVSSA" +"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A1" +"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A2" +"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A3" +"ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY", "WNT7A" +"ULNAR-MAMMARY SYNDROME", "TBX3" +"UROCANASE DEFICIENCY ", "UROC1" +"UROFACIAL SYNDROME", "HPSE2" +"USHER SYNDROME, TYPE IIIB", "HARS" +"USHER SYNDROME, TYPE I", "MYO7A" +"USHER SYNDROME, TYPE IC", "USH1C" +"USHER SYNDROME, TYPE ID", "PCDH15" +"USHER SYNDROME, TYPE ID", "CDH23" +"USHER SYNDROME, TYPE IF", "PCDH15" +"USHER SYNDROME, TYPE IG", "SANS" +"USHER SYNDROME, TYPE IIA", "USH2A" +"USHER SYNDROME, TYPE IIA", "PDZD7" +"USHER SYNDROME, TYPE IIC", "GPR98" +"USHER SYNDROME, TYPE IIC", "PDZD7" +"USHER SYNDROME, TYPE IID", "WHRN" +"USHER SYNDROME, TYPE IIIA", "CLRN1" +"USHER SYNDROME, TYPE IJ", "CIB2" +"VATER ASSOCIATION", "HOXD13" +"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS", "ZIC3" +"VACTERL ASSOCIATION WITH HYDROCEPHALUS", "PTEN" +"ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF", "ACADVL" +"HYPEROSTOSIS CORTICALIS GENERALISATA", "SOST" +"VAN DEN ENDE-GUPTA SYNDROME", "SCARF2" +"VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY", "TREX1" +"VELOCARDIOFACIAL SYNDROME", "TBX1" +"VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL", "TEK" +"VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "SCN5A" +"VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2", "DPP6" +"VENTRICULAR SEPTAL DEFECT 1", "GATA4" +"VENTRICULAR SEPTAL DEFECT 2", "CITED2" +"VENTRICULAR SEPTAL DEFECT 3", "NKX2-5" +"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY", "RYR2" +"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2", "CASQ2" +"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4", "CALM1" +"VENTRICULAR TACHYCARDIA, FAMILIAL", "GNAI2" +"VESICOURETERAL REFLUX 2", "ROBO2" +"VESICOURETERAL REFLUX 3", "SOX17" +"VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A", "CYP27B1" +"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2", "VKORC1" +"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1", "GGCX" +"VOHWINKEL SYNDROME, VARIANT FORM", "LOR" +"DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES", "GJB2" +"WHIM SYNDROME", "CXCR4" +"WAARDENBURG SYNDROME, TYPE 1", "PAX3" +"WAARDENBURG SYNDROME, TYPE 2A", "MITF" +"WAARDENBURG SYNDROME, TYPE 2D", "SNAI2" +"WAARDENBURG SYNDROME, TYPE 2E", "SOX10" +"WAARDENBURG SYNDROME, TYPE 3", "PAX3" +"WAARDENBURG SYNDROME, TYPE 4A", "EDNRB" +"WAARDENBURG SYNDROME, TYPE 4B", "EDN3" +"WAARDENBURG SYNDROME, TYPE 4C", "SOX10" +"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS", "MITF" +"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS", "TYR" +"WAGNER SYNDROME 1", "VCAN" +"WARBURG MICRO SYNDROME 1", "RAB3GAP1" +"WARBURG MICRO SYNDROME 2", "RAB3GAP2" +"WARBURG MICRO SYNDROME 3", "RAB18" +"WARSAW BREAKAGE SYNDROME ", "DDX11" +"WATSON SYNDROME", "NF1" +"WEAVER SYNDROME 2", "EZH2" +"WEAVER SYNDROME 1", "NSD1" +"WEILL-MARCHESANI SYNDROME 1", "ADAMTS10" +"WEILL-MARCHESANI SYNDROME 2", "FBN1" +"WEILL-MARCHESANI SYNDROME 3", "LTBP2" +"WEILL-MARCHESANI-LIKE SYNDROME ", "ADAMTS17" +"WEISSENBACHER-ZWEYMULLER SYNDROME", "COL11A2" +"WERNER SYNDROME", "RECQL2" +"WEYERS ACROFACIAL DYSOSTOSIS", "EVC" +"WHITE SPONGE NEVUS", "KRT4" +"WHITE SPONGE NEVUS", "KRT13" +"HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY", "MLL" +"WILMS TUMOR 2", "H19" +"WILMS TUMOR 1", "GPC3" +"WILMS TUMOR 1", "BRCA2" +"WILMS TUMOR 1", "WT1" +"WILSON DISEASE", "ATP7B" +"WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME", "HDAC8" +"WISKOTT-ALDRICH SYNDROME 2", "WIPF1" +"WISKOTT-ALDRICH SYNDROME", "WAS" +"EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS", "EIF2AK3" +"WOLFF-PARKINSON-WHITE SYNDROME", "PRKAG2" +"WOLFRAM SYNDROME 2", "CISD2" +"WOLFRAM SYNDROME 1", "WFS1" +"WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT", "WFS1" +"WOODHOUSE-SAKATI SYNDROME", "DCAF17" +"WOOLLY HAIR, AUTOSOMAL DOMINANT", "KRT74" +"WRINKLY SKIN SYNDROME", "ATP6V0A2" +"X INACTIVATION, FAMILIAL SKEWED, 1", "XIC" +"XFE PROGEROID SYNDROME", "ERCC4" +"XANTHINURIA, TYPE I", "XDH" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A", "XPA" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B", "ERCC3" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C", "XPC" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D", "ERCC2" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E", "DDB2" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F", "ERCC4" +"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G", "ERCC5" +"XERODERMA PIGMENTOSUM, VARIANT TYPE", "POLH" +"ERYTHROCYTE AMP DEAMINASE DEFICIENCY ", "AMPD3" +"ACETYLATION, SLOW", "NAT2" +"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC ", "MC1R" +"ANHAPTOGLOBINEMIA", "HP" +"APOCRINE GLAND SECRETION, VARIATION IN", "ABCC11" +"BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "UGT1A1" +"BIRBECK GRANULE DEFICIENCY", "CD207" +"BLOOD GROUP, CROMER SYSTEM", "CD55" +"GIL BLOOD GROUP ", "AQP3" +"BLOOD GROUP--LUTHERAN SYSTEM", "LU" +"BLOOD GROUP--COLTON", "AQP1" +"BLOOD GROUP--DIEGO SYSTEM", "SLC4A1" +"BLOOD GROUP, DUFFY SYSTEM", "DARC" +"BLOOD GROUP--FROESE", "SLC4A1" +"INDIAN BLOOD GROUP SYSTEM", "CD44" +"BLOOD GROUP, JOHN MILTON HAGEN SYSTEM", "SEMA7A" +"BLOOD GROUP--KELL SYSTEM", "KEL" +"BLOOD GROUP--KIDD SYSTEM", "SLC14A1" +"KNOPS BLOOD GROUP SYSTEM", "CR1" +"BLOOD GROUP SYSTEM, LANDSTEINER-WIENER", "ICAM4" +"BLOOD GROUP, LANGEREIS SYSTEM", "ABCB6" +"LUTHERAN NULL", "LU" +"BLOOD GROUP--OK", "BSG" +"BLOOD GROUP, P SYSTEM", "B3GALT3" +"BLOOD GROUP, P SYSTEM", "A4GALT" +"RADIN BLOOD GROUP ANTIGEN", "ERMAP" +"RAPH BLOOD GROUP SYSTEM", "CD151" +"BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE", "RHCE" +"BLOOD GROUP, CHIDO/RODGERS SYSTEM", "C4A" +"BLOOD GROUP--SCIANNA SYSTEM", "ERMAP" +"BLOOD GROUP--SWANN SYSTEM", "SLC4A1" +"BLOOD GROUP--WALDNER TYPE", "SLC4A1" +"BLOOD GROUP--WRIGHT ANTIGEN", "SLC4A1" +"YT BLOOD GROUP ANTIGEN", "ACHE" +"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12", "FBXO33" +"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15", "MIR2861" +"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1", "LRP5" +"OSTEOPOROSIS", "CALCR" +"OSTEOPOROSIS", "COL1A1" +"OSTEOPOROSIS", "COL1A2" +"OSTEOPOROSIS", "RIL" +"OSTEOPOROSIS", "LRP5" +"CHITOTRIOSIDASE DEFICIENCY", "CHIT" +"DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA", "TTR" +"FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5", "GCKR" +"FRUCTOSURIA, ESSENTIAL", "KHK" +"GILBERT SYNDROME", "UGT1A1" +"GLUTARIC ACIDURIA III", "C7orf10" +"GLYCEROL QUANTITATIVE TRAIT LOCUS", "AQP7" +"HAIR MORPHOLOGY 1", "EDAR" +"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6", "KLF1" +"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12", "LIPC" +"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6", "SCARB1" +"HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY", "KNG1" +"HISTIDINEMIA", "HAL" +"INOSINE TRIPHOSPHATASE DEFICIENCY", "ITPA" +"INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "IL6R" +"SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "IL6R" +"BLOOD GROUP, JUNIOR SYSTEM", "ABCG2" +"IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY", "IGKC" +"LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6", "SORT1" +"MALARIA, SUSCEPTIBILITY TO", "SLC4A1" +"MALARIA, SUSCEPTIBILITY TO", "GYPC" +"MALARIA, SUSCEPTIBILITY TO", "GYPA" +"MALARIA, SUSCEPTIBILITY TO", "CR1" +"MALARIA, SUSCEPTIBILITY TO", "ICAM1" +"MALARIA, SUSCEPTIBILITY TO", "NOS2A" +"MALARIA, SUSCEPTIBILITY TO", "CD36" +"MALARIA, SUSCEPTIBILITY TO", "TNF" +"MALARIA, SUSCEPTIBILITY TO", "CISH" +"MALARIA, SUSCEPTIBILITY TO", "FCGR2B" +"MALARIA, SUSCEPTIBILITY TO", "TIRAP" +"MALARIA, SUSCEPTIBILITY TO", "DARC" +"THIOUREA TASTING", "TAS2R38" +"PREMATURE CHROMATID SEPARATION TRAIT", "BUB1B" +"RESTING HEART RATE, VARIATION IN", "ADRB1" +"SHORT SLEEPER", "BHLHE41" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1", "HERC2" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1", "OCA2" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10", "TPCN2" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2", "MC1R" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3", "TYR" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4", "SLC24A5" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5", "SLC45A2" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6", "SLC24A4" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7", "KITLG" +"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9", "ASIP" +"SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1", "TRPV4" +"TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2", "HFE" +"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1", "ABCG2" +"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4", "SLC17A3" +"WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1", "DARC" +"VAN BUCHEM DISEASE, TYPE 2", "LRP5" +"VAN DER WOUDE SYNDROME 1", "IRF6" +"VON HIPPEL-LINDAU SYNDROME", "CCND1" +"VON HIPPEL-LINDAU SYNDROME", "VHL" +"PSEUDO-VON WILLEBRAND DISEASE", "GP1BA" +"VON WILLEBRAND DISEASE, TYPE 1", "VWF" +"VON WILLEBRAND DISEASE, TYPE 2", "VWF" +"VON WILLEBRAND DISEASE, TYPE 3", "VWF" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IL10" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "HLA-C" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CXCR1" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IFNG" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IL4R" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL2" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CXCL12" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL11" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL3L1" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CX3CR1" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CD209" +"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "KIR3DL1" +"ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO", "MDM2" +"ALCOHOL DEPENDENCE", "ADH1B" +"ALCOHOL DEPENDENCE", "ADH1C" +"ALCOHOL DEPENDENCE", "GABRA2" +"ALCOHOL DEPENDENCE", "HTR2A" +"ALCOHOL DEPENDENCE", "TAS2R16" +"ALCOHOL DEPENDENCE", "RCBTB1" +"ALLERGIC RHINITIS", "IL13" +"AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "TRPM7" +"ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1", "HTR2A" +"BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2", "BDNF" +"ANXIETY", "SLC6A4" +"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1", "TERT" +"APLASTIC ANEMIA", "IFNG" +"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2", "TERC" +"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1", "NLGN3" +"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2", "NLGN4" +"ASPERGILLOSIS, SUSCEPTIBILITY TO ", "CLEC7A" +"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5", "IRAK3" +"ASTHMA, SUSCEPTIBILITY TO", "ADRB2" +"ASTHMA, SUSCEPTIBILITY TO", "IL13" +"ASTHMA, SUSCEPTIBILITY TO", "ALOX5" +"ASTHMA, SUSCEPTIBILITY TO", "MUC7" +"ASTHMA, SUSCEPTIBILITY TO", "IL12B" +"ASTHMA, SUSCEPTIBILITY TO", "TNF" +"ASTHMA, SUSCEPTIBILITY TO", "SCGB1A1" +"ASTHMA, SUSCEPTIBILITY TO", "CCL11" +"ASTHMA, SUSCEPTIBILITY TO", "PLA2G7" +"ASTHMA, SUSCEPTIBILITY TO", "HNMT" +"ASTHMA, SUSCEPTIBILITY TO", "SCGB3A2" +"ASTHMA, SUSCEPTIBILITY TO", "PHF11" +"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1", "PTGDR" +"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2", "NPSR1" +"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7", "CHI3L1" +"ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7", "TPH2" +"ATTENTION DEFICIT-HYPERACTIVITY DISORDER", "DRD4" +"ATTENTION DEFICIT-HYPERACTIVITY DISORDER", "DRD5" +"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1", "IKBKG" +"AUTISM, SUSCEPTIBILITY TO, 10", "EN2" +"AUTISM, SUSCEPTIBILITY TO, 15", "CNTNAP2" +"AUTISM, SUSCEPTIBILITY TO, 16", "SLC9A9" +"AUTISM, SUSCEPTIBILITY TO, 17", "SHANK2" +"AUTISM, SUSCEPTIBILITY TO, X-LINKED 1", "NLGN3" +"AUTISM, SUSCEPTIBILITY TO, X-LINKED 3", "MECP2" +"AUTISM, SUSCEPTIBILITY TO, 9", "MET" +"AUTISM, SUSCEPTIBILITY TO, X-LINKED 5", "RPL10" +"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1", "FOXD3" +"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6", "SIAE" +"AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3", "TG" +"AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3", "ZFAT1" +"BACTEREMIA, SUSCEPTIBILITY TO, 1", "TIRAP" +"BACTEREMIA, SUSCEPTIBILITY TO, 2", "CISH" +"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7", "TP53" +"BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO", "TBXA2R" +"BLEPHAROSPASM, BENIGN ESSENTIAL ", "DRD5" +"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "BRCA1" +"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "BRCA2" +"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3", "RAD51C" +"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4", "RAD51L3" +"BUDD-CHIARI SYNDROME", "JAK2" +"BUDD-CHIARI SYNDROME", "F5" +"BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1", "BDNF" +"BURULI ULCER, SUSCEPTIBILITY TO", "NRAMP1" +"CARDIAC CONDUCTION DEFECT", "AKAP10" +"CELIAC DISEASE, SUSCEPTIBILITY TO, 3", "CTLA4" +"CELIAC DISEASE, SUSCEPTIBILITY TO, 4", "MYO9B" +"CELIAC DISEASE", "HLA-DQA1" +"CELIAC DISEASE", "HLA-DQB1" +"STROKE, ISCHEMIC", "NOS3" +"STROKE, ISCHEMIC", "F2" +"STROKE, ISCHEMIC", "ALOX5AP" +"STROKE, ISCHEMIC", "PRKCH" +"STROKE, ISCHEMIC", "F5" +"MANNOSE-BINDING PROTEIN DEFICIENCY", "MBL2" +"CIRRHOSIS, FAMILIAL", "KRT8" +"CIRRHOSIS, FAMILIAL", "KRT18" +"DRUG METABOLISM, POOR, CYP2D6-RELATED", "CYP2D6" +"COLCHICINE RESISTANCE", "ABCB1" +"COLORECTAL CANCER, SUSCEPTIBILITY TO, 1", "GALNT12" +"COLORECTAL CANCER, SUSCEPTIBILITY TO, 3", "SMAD7" +"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1", "MEF2A" +"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2", "LRP6" +"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1", "CX3CR1" +"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5", "KALRN" +"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6", "MMP3" +"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7", "CD36" +"INFLAMMATORY BOWEL DISEASE 1", "IL6" +"INFLAMMATORY BOWEL DISEASE 1", "NOD2" +"DEAFNESS, AMINOGLYCOSIDE-INDUCED", "TRMU" +"DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO", "AANAT" +"DENGUE VIRUS, SUSCEPTIBILITY TO", "CD209" +"DERMATITIS, ATOPIC, 2", "FLG" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 22", "CCR5" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 5", "SUMO4" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 12", "CTLA4" +"DIABETES MELLITUS, INSULIN-DEPENDENT", "HNF1A" +"DIABETES MELLITUS, INSULIN-DEPENDENT", "IL6" +"DIABETES MELLITUS, INSULIN-DEPENDENT", "OAS1" +"DIABETES MELLITUS, INSULIN-DEPENDENT", "FOXP3" +"DIABETES MELLITUS, INSULIN-DEPENDENT", "PTPN22" +"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1", "CAPN10" +"DIABETES MELLITUS, INSULIN-DEPENDENT, 10", "IL2RA" +"DYSLEXIA, SUSCEPTIBILITY TO, 1", "DYX1C1" +"DYSLEXIA, SUSCEPTIBILITY TO, 2", "KIAA0319" +"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3", "RANBP2" +"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4", "CPT2" +"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4", "TICAM1" +"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO", "APOL1" +"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2", "GABRG2" +"EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5", "GABRA1" +"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5", "GABRB3" +"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6", "CACNA1H" +"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10", "GABRD" +"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11", "CLCN2" +"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8", "CASR" +"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9", "CACNB4" +"EPILEPSY, IDIOPATHIC GENERALIZED", "ME2" +"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12", "SLC2A1" +"EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1", "EFHC1" +"TREMOR, HEREDITARY ESSENTIAL, 1", "DRD3" +"EXFOLIATION SYNDROME", "LOXL1" +"GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO", "OPTN" +"GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO", "OPA1" +"GLIOMA SUSCEPTIBILITY 3", "BRCA2" +"GLIOMA SUSCEPTIBILITY 2", "PTEN" +"GLUCOCORTICOID THERAPY, RESPONSE TO", "GLCCI1" +"GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO", "IL10" +"HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO ", "IFNGR1" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "HF1" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "CFHR1" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "CFHR3" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2", "MCP" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3", "CFI" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4", "CFB" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5", "C3" +"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6", "THBD" +"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "IFNG" +"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "PTPRC" +"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "CCR5" +"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "IL28B" +"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "IFNGR1" +"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "CRFB4" +"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "IFNAR2" +"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3", "TRAF3" +"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1", "RET" +"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2", "EDNRB" +"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3", "GDNF" +"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4", "EDN3" +"HYPERCALCIURIA, ABSORPTIVE, 2", "SAC" +"HYPERLIPIDEMIA, COMBINED, 1", "USF1" +"SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO", "HLA-A" +"SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO", "HLA-B" +"HYPERTENSION, DIASTOLIC, RESISTANCE TO ", "KCNMB1" +"PREECLAMPSIA/ECLAMPSIA 1", "EPHX1" +"PREECLAMPSIA/ECLAMPSIA 1", "NOS3" +"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "RP1" +"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "APOA5" +"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "LIPI" +"HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA", "HS6ST1" +"HYPOTHALAMIC HAMARTOMAS", "GLI3" +"HASHIMOTO THYROIDITIS", "CTLA4" +"INFLAMMATORY BOWEL DISEASE 10", "ATG16L1" +"INFLAMMATORY BOWEL DISEASE 13", "ABCB1" +"INFLAMMATORY BOWEL DISEASE 14", "IRF5" +"INFLAMMATORY BOWEL DISEASE 17", "IL23R" +"INFLUENZA, SEVERE, SUSCEPTIBILITY TO ", "IFITM3" +"INTERVERTEBRAL DISC DISEASE", "COL9A2" +"INTERVERTEBRAL DISC DISEASE", "COL9A3" +"INTERVERTEBRAL DISC DISEASE", "COL11A1" +"INTERVERTEBRAL DISC DISEASE", "THBS2" +"INTERVERTEBRAL DISC DISEASE", "CILP" +"INTERVERTEBRAL DISC DISEASE", "ASPN" +"ARTERIOVENOUS MALFORMATIONS OF THE BRAIN", "IL6" +"KAPOSI SARCOMA, SUSCEPTIBILITY TO", "IL6" +"KAWASAKI DISEASE", "ITPKC" +"KURU, SUSCEPTIBILITY TO ", "PRNP" +"LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO ", "TLR5" +"LEPROSY, SUSCEPTIBILITY TO, 5", "TLR1" +"LEPROSY, SUSCEPTIBILITY TO, 4", "LTA" +"LEPROSY, SUSCEPTIBILITY TO, 3", "TLR2" +"LEPROSY, SUSCEPTIBILITY TO, 2", "PRKN" +"LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO", "LMNB2" +"SMOKING AS A QUANTITATIVE TRAIT LOCUS 3", "CHRNA3" +"SMOKING AS A QUANTITATIVE TRAIT LOCUS 3", "CHRNA5" +"FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1", "BCL10" +"MACULAR DEGENERATION, AGE-RELATED, 10", "TLR4" +"MACULAR DEGENERATION, AGE-RELATED, 12", "CX3CR1" +"MACULAR DEGENERATION, AGE-RELATED, 1", "APOE" +"MACULAR DEGENERATION, AGE-RELATED, 1", "CFHR1" +"MACULAR DEGENERATION, AGE-RELATED, 1", "CFB" +"MACULAR DEGENERATION, AGE-RELATED, 1", "CFHR3" +"MACULAR DEGENERATION, AGE-RELATED, 1", "HMCN1" +"MACULAR DEGENERATION, AGE-RELATED, 1", "C2" +"MACULAR DEGENERATION, AGE-RELATED, 4", "HF1" +"MACULAR DEGENERATION, AGE-RELATED, 7", "HTRA1" +"MACULAR DEGENERATION, AGE-RELATED, 8", "LOC387715" +"MACULAR DEGENERATION, AGE-RELATED, 9", "C3" +"MACULAR DEGENERATION, AGE-RELATED, 5", "ERCC6" +"MAJOR AFFECTIVE DISORDER 7", "XBP1" +"MAJOR AFFECTIVE DISORDER 1", "SLC6A3" +"MAJOR DEPRESSIVE DISORDER", "HTR2A" +"MAJOR DEPRESSIVE DISORDER", "FKBP5" +"MAJOR DEPRESSIVE DISORDER", "TPH2" +"MALARIA, MILD, SUSCEPTIBILITY TO", "NCR3" +"MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1", "RYR1" +"MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5", "CACNA1S" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2", "CDKN2A" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3", "CDK4" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5", "MC1R" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6", "XRCC3" +"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8", "MITF" +"ABDOMINAL OBESITY-METABOLIC SYNDROME", "MTP" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1", "VEGF" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2", "EPO" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3", "ACE" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4", "IL1RN" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5", "PON1" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6", "SOD2" +"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7", "HFE" +"MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13", "KCNK18" +"MOYAMOYA DISEASE 2", "RNF213" +"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "HLA-DRB1" +"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "PDCD1" +"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "HLA-DQB1" +"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5", "TNFRSF1A" +"MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO", "TGFBR1" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IFNGR1" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IFNG" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "MC3R" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CCL2" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "NRAMP1" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CISH" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "SP110" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CD209" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "TIRAP" +"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IRGM" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "ESR1" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "F13A1" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LGALS2" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LTA" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "ITGB3" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "GCLM" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LRP8" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "OLR1" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "PSMA6" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "TNFSF4" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "GCLC" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "MIAT" +"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "F7" +"EPILEPSY, MYOCLONIC JUVENILE", "EFHC1" +"NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO", "ZNF365" +"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTR" +"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTHFD" +"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTRR" +"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTHFR" +"NEUROBLASTOMA, SUSCEPTIBILITY TO, 3", "ALK" +"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "CHRNA4" +"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "CYP2A6" +"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "SLC6A3" +"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "GPR51" +"NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO", "GP1BA" +"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9", "MC3R" +"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11", "SLC6A14" +"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12", "PCSK1" +"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4", "UCP2" +"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10", "O3FAR1" +"OBSESSIVE-COMPULSIVE DISORDER", "BDNF" +"OBSESSIVE-COMPULSIVE DISORDER", "HTR2A" +"OBSESSIVE-COMPULSIVE DISORDER", "SLC6A4" +"OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1", "ME2" +"OSTEOARTHRITIS SUSCEPTIBILITY 1", "FRZB" +"OSTEOARTHRITIS SUSCEPTIBILITY 2", "MATN3" +"OSTEOARTHRITIS SUSCEPTIBILITY 3", "ASPN" +"OSTEOARTHRITIS SUSCEPTIBILITY 5", "GDF5" +"PANCREATIC CANCER, SUSCEPTIBILITY TO, 1", "PALLD" +"PANCREATIC CANCER, SUSCEPTIBILITY TO, 3", "PALB2" +"PANCREATIC CANCER, SUSCEPTIBILITY TO, 4", "BRCA1" +"PANIC DISORDER 1", "COMT" +"PARKINSON DISEASE 5, AUTOSOMAL DOMINANT", "UCHL1" +"PARKINSON DISEASE, LATE-ONSET", "ADH1C" +"PARKINSON DISEASE, LATE-ONSET", "MAPT" +"PARKINSON DISEASE, LATE-ONSET", "TBP" +"PARKINSON DISEASE, LATE-ONSET", "GBA" +"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1", "F5" +"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2", "F2" +"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3", "ANXA5" +"PRETERM PREMATURE RUPTURE OF THE MEMBRANES", "SERPINH1" +"PROSTATE CANCER, HEREDITARY, 12", "EHBP1" +"PROSTATE CANCER, HEREDITARY, 13", "MSMB" +"PROSTATE CANCER, HEREDITARY, 2", "ELAC2" +"PSEUDOFOLLICULITIS BARBAE", "KRT75" +"PSORIASIS SUSCEPTIBILITY 13", "TRAF3IP2" +"PSORIASIS SUSCEPTIBILITY 1", "HLA-C" +"PSORIASIS SUSCEPTIBILITY 2", "CARD14" +"PSORIASIS SUSCEPTIBILITY 7", "IL23R" +"PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1", "LTA" +"PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1", "NOD2" +"RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO", "BICC1" +"RHEUMATOID ARTHRITIS", "IL10" +"RHEUMATOID ARTHRITIS", "HLA-DRB1" +"RHEUMATOID ARTHRITIS", "MHC2TA" +"RHEUMATOID ARTHRITIS", "PTPN22" +"RHEUMATOID ARTHRITIS", "NFKBIL1" +"RHEUMATOID ARTHRITIS", "SLC22A4" +"RHEUMATOID ARTHRITIS", "PADI4" +"RHEUMATOID ARTHRITIS", "CD244" +"RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE", "IL6" +"RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE", "MIF" +"SARCOIDOSIS, SUSCEPTIBILITY TO, 1", "HLA-DRB1" +"SARCOIDOSIS, SUSCEPTIBILITY TO, 2", "BTNL2" +"SCHIZOPHRENIA", "COMT" +"SCHIZOPHRENIA", "DRD3" +"SCHIZOPHRENIA", "HTR2A" +"SCHIZOPHRENIA", "SYN2" +"SCHIZOPHRENIA", "CHI3L1" +"SCHIZOPHRENIA", "DISC1" +"SCHIZOPHRENIA", "RTN4R" +"SCHIZOPHRENIA", "GPR48" +"SCHIZOPHRENIA", "MTHFR" +"SCHIZOPHRENIA 15", "SHANK3" +"SCHIZOPHRENIA 17", "NRXN1" +"SCHIZOPHRENIA 4", "PRODH" +"SCHIZOPHRENIA 9", "DISC1" +"SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3", "CHD7" +"SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO", "MYH6" +"SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1", "HLA-B" +"HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO", "ACE" +"HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO", "COL4A2" +"STROKE, SUSCEPTIBILITY TO, 1", "PDE4D" +"SUDDEN INFANT DEATH SYNDROME", "SCN5A" +"SYSTEMIC LUPUS ERYTHEMATOSUS", "DNASE1" +"SYSTEMIC LUPUS ERYTHEMATOSUS", "PTPN22" +"SYSTEMIC LUPUS ERYTHEMATOSUS", "FCGR2B" +"SYSTEMIC LUPUS ERYTHEMATOSUS", "TREX1" +"SYSTEMIC LUPUS ERYTHEMATOSUS", "BANK1" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1", "TLR5" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10", "IRF5" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2", "PDCD1" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9", "CR2" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11", "STAT4" +"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6", "ITGAM" +"THYROID CARCINOMA, HURTHLE CELL", "NDUFA13" +"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1", "CACNA1S" +"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2", "KCNJ18" +"VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1", "FUT2" +"VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1", "NALP1" +"WEST NILE VIRUS, SUSCEPTIBILITY TO", "CCR5" +"WILMS TUMOR 5", "POU6F2" diff --git a/courses/lab06_graphes.Rmd b/courses/lab06_graphes.Rmd new file mode 100644 index 0000000..37a4755 --- /dev/null +++ b/courses/lab06_graphes.Rmd @@ -0,0 +1,374 @@ +--- +title: "Graphes" +author: "Maxime Wack" +date: "19/11/2019" +output: + xaringan::moon_reader: + css: ['default','css/my_style.css'] + lib_dir: libs + seal: false + nature: + ratio: '4:3' + countIncrementalSlides: false + self-contained: true + beforeInit: "addons/macros.js" + highlightLines: true + pdf_document: + seal: false +--- + +```{r setup, include=FALSE} +library(tidyverse) +library(DT) +library(knitr) + +opts_chunk$set(echo = TRUE, + ## fig.asp= .5, + message = F, + warning = F) + +options(DT.options = list(paging = F, + search = F, + info = F)) + +datatable <- partial(datatable, rownames = F) +``` + +class: center, middle, title + +# UE Visualisation + +### 2019-2020 + +## Dr. Maxime Wack + +### AHU Informatique médicale +#### Hôpital Européen Georges Pompidou,
Université de Paris + +--- +# Graphe bipartite + +.pull-left[ +### Graphe contenant deux sets de sommets **complèment déconnectés** +### Dit aussi 2-coloriable +] + +.pull-right[ +![](06_img/bipartite.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/71.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/72.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/73.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/74.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/75.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/76.png) +] + +--- +# Projection + +.pull-left[ +### Méthode permettant de créer **deux** graphes +### Les sommets d'une partie sont connectés s'ils partagent un sommet d'une autre partie +] + +.pull-right[ +![](06_img/77.png) +] + +--- +class:center +# Projection + +.pull-right[ +![](06_img/bipartite.png) +] + +--- +class:center +# Projection + +.pull-left[ +![](06_img/numbered_.png) +] + +.pull-right[ +![](06_img/bipartite.png) +] + +--- +class:center +# Projection + +.pull-c1[ +![](06_img/numbered_.png) +] + +.pull-c2[ +![:scale 75%](06_img/bipartite.png) +] + +-- +.pull-c3[ +![:scale 65%](06_img/projection.png) +] + +--- + +# OMIM + +*Online Mendelian Inheritance in Men* + +Base de données d'associations connues gène ↔ phénotype + +https://omim.org + +https://maximewack.com/files/OMIM.csv + +--- +class: center +# The Human Disease Network + +https://www.ncbi.nlm.nih.gov/pubmed/17502601 + +![:scale 90%](06_img/HDN_principe.png) + +--- +class: center +# The Human Disease Network + +https://www.ncbi.nlm.nih.gov/pubmed/17502601 + +![:scale 90%](06_img/HDN.png) + +--- +# Librairies + +```{r libs} +library(igraph) +library(ggraph) +library(tidyverse) +``` + +--- +class:center,middle +# igraph + +--- + +# Créer des graphes + +```{r create graph, eval = F} +# Graphe sans arête +graph.empty(n = 10, directed = T) + +# Graphe complètement connecté +graph.full(n = 10, directed = F, loops = F) + +# Graphe en étoile +graph.star(n = 10, mode = "out") +``` + +--- +# Chargement du graphe + + +```{r load} +read_csv("lab06_data/OMIM.csv") -> OMIM +``` + +```{r load show, echo = F} +OMIM %>% + slice(70:80) %>% + datatable +``` + +--- +# Chargement du graphe + +```{r graph data frame} +graph.data.frame(OMIM, directed = F) -> graphe +``` + +```{r graph data frame show, echo = F} +graphe +``` +--- +# Informations sur le graphe + +### Sommets + +```{r vcount} +vcount(graphe) +``` +### Arêtes + +```{r ecount} +ecount(graphe) +``` + +--- +# Informations sur le graphe + +### Dirigé ? + +```{r directed} +is.directed(graphe) +``` + +### Voisins d'un sommet + +```{r neighbors} +neighbors(graphe, V(graphe)[2019]) +``` + +--- +# Projection + +```{r projection} +# Établir les types (gène, phénotype) +V(graphe)$type <- bipartite.mapping(graphe)$type + +# Créer les projections +projs <- bipartite.projection(graphe) + +# Séparer les projections en deux graphes +HDN <- projs$proj1 +HGN <- projs$proj2 +``` +--- + +# HDN + +```{r HDN} +HDN +``` +--- + +# HGN + +```{r HGN} +HGN +``` +--- + +# Décomposition en sous-graphes + +```{r decompos} +HDN %>% + decompose -> diseases +``` +--- + +# ggraph + +```{r visu} +graph_one <- function(graph) +{ + ggraph(graph) + + geom_edge_diagonal() + + geom_node_label(aes(label = name)) +} +``` + +--- + +# Filtrer sous-graphes < 10 sommets + +```{r sous-graphes par sommets} +diseases %>% + keep(map_dbl(diseases, vcount) >= 10) %>% + map(graph_one) -> plots +``` +--- + +# Malformations cardiaques + +```{r cardiaques} +plots[[5]] +``` +--- +# Surdités + +```{r surdités} +plots[[9]] +``` +--- +# Ostéogénèses imparfaites + +```{r Ostéogénèses} +plots[[12]] +``` +--- + +# Export + +```{r export, eval = F} +write.graph(HDN, file = "diseases.graphml", format = "graphml") +write.graph(HGN, file = "genes.graphml", format = "graphml") +```