List of disease genes
List of disease genes in which we observe splice-mediated changes in protein isoform sequences.
Splice-mediated changes in the protein isoform sequences are of the following types: Domains are inserted/deleted/truncated/swapped; and the domain ordering is reshuffled. Similar observations are made with fingerprint signatures, profiles, and motifs.
| NIPA1 | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT(600363) |
| IQCB1 | SENIOR-LOKEN SYNDROME 5(609254) |
| MEN1 | MULTIPLE ENDOCRINE NEOPLASIA, TYPE I(131100) HYPERPARATHYROIDISM 1(145000) |
| AGA | ASPARTYLGLUCOSAMINURIA(208400) |
| MOCS2 | MOLYBDENUM COFACTOR DEFICIENCY(252150) |
| MOCS1 | MOLYBDENUM COFACTOR DEFICIENCY(252150) |
| MFAP4 | SMITH-MAGENIS SYNDROME(182290) |
| PMM2 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia(212065) |
| SEMA4A | CONE-ROD DYSTROPHY 10(610283) RETINITIS PIGMENTOSA 35(610282) |
| ASS1 | CITRULLINEMIA, CLASSIC(215700) |
| TAT | TYROSINE TRANSAMINASE DEFICIENCY(276600) |
| OGDH | ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY(203740) |
| TAZ | CARDIOMYOPATHY, DILATED, 3A(300069) BARTH SYNDROME(302060) NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED;(300183) NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL(604169) |
| SP110 | HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY(235550) |
| ABCD3 | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3(170995) |
| PRKAG2 | WOLFF-PARKINSON-WHITE SYNDROME(194200) GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL(261740) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE(600858) |
| DIAPH1 | DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1(124900) |
| APRT | ADENINE PHOSPHORIBOSYLTRANSFERASE(102600) |
| WHSC1 | WOLF-HIRSCHHORN SYNDROME(194190) |
| D2HGDH | D-2-@HYDROXYGLUTARIC ACIDURIA(600721) |
| ATP2A1 | BRODY MYOPATHY(601003) |
| ALDH3A2 | SJOGREN-LARSSON SYNDROME(270200) |
| GABRG2 | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+(604233) EPILEPSY, CHILDHOOD ABSENCE, 2(607681) SEVERE MYOCLONIC EPILEPSY OF INFANCY(607208) |
| ITGA6 | EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA(226730) |
| UROD | PORPHYRIA CUTANEA TARDA(176100) |
| COL3A1 | EHLERS-DANLOS SYNDROME, TYPE III(130020) EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT(130050) |
| CRYBA1 | CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES(600881) |
| CRYBA4 | MICROPHTHALMIA, ISOLATED, WITH CATARACT 4(610426) CATARACT, LAMELLAR 2(610425) |
| DNAI1 | KARTAGENER SYNDROME(244400) PRIMARY CILIARY DYSKINESIA(242650) |
| PANK2 | HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,(607236) PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION(234200) |
| KCNMA1 | GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA(609446) |
| NF2 | SCHWANNOMATOSIS(162091) NEUROFIBROMATOSIS, TYPE II(101000) |
| GTF2I | WILLIAMS-BEUREN SYNDROME(194050) |
| ATP1A2 | ALTERNATING HEMIPLEGIA OF CHILDHOOD(104290) MIGRAINE, FAMILIAL HEMIPLEGIC, 2(602481) |
| PPARG | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3(604367) ABDOMINAL BODY FAT DISTRIBUTION(609830) CAROTID INTIMAL MEDIAL THICKNESS 1(609338) OBESITY(601665) |
| PPARA | PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA(170998) |
| GRN | FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE(607485) |
| SLC39A4 | ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE(201100) |
| MCCC2 | 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY(210210) |
| GFM1 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1(609060) |
| PSAP | PROSAPOSIN(176801) METACHROMATIC LEUKODYSTROPHY DUE TO DEFICIENCY OF CEREBROSIDE SULFATASE(249900) GAUCHER DISEASE, ATYPICAL, DUE TO SAP2 DEFICIENCY(610539) |
| TCIRG1 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE(259700) |
| CBS | HOMOCYSTINURIA(236200) |
| FTCD | FORMIMINOTRANSFERASE DEFICIENCY(229100) |
| FLNA | CEREBROFRONTOFACIAL SYNDROME(608578) FRONTOMETAPHYSEAL DYSPLASIA(305620) MELNICK-NEEDLES SYNDROME(309350) HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT(300049) INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED(300048) OTOPALATODIGITAL SYNDROME, TYPE I(311300) OTOPALATODIGITAL SYNDROME, TYPE II(304120) HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT(300537) |
| SMAD4 | PANCREATIC CARCINOMA(260350) JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME;(175050) JUVENILE POLYPOSIS SYNDROME(174900) |
| GLA | FABRY DISEASE(301500) |
| VAPB | AMYOTROPHIC LATERAL SCLEROSIS 8(608627) |
| POLG | ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS(203700) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,(157640) MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME(603041) PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,(258450) |
| TNFRSF10B | SQUAMOUS CELL CARCINOMA, HEAD AND NECK(275355) |
| PLP1 | PELIZAEUS-MERZBACHER DISEASE(312080) SPASTIC PARAPLEGIA 2, X-LINKED(312920) |
| TSC2 | TUBEROUS SCLEROSIS(191100) LYMPHANGIOLEIOMYOMATOSIS(606690) |
| POLH | XERODERMA PIGMENTOSUM, VARIANT TYPE(278750) |
| HMBS | PORPHYRIA, ACUTE INTERMITTENT(176000) |
| NDUFV1 | MITOCHONDRIAL COMPLEX I DEFICIENCY(252010) LEIGH SYNDROME(256000) ALEXANDER DISEASE(203450) |
| F11 | PTA DEFICIENCY(264900) |
| CIITA | BARE LYMPHOCYTE SYNDROME, TYPE II(209920) |
| ACAT1 | ALPHA-METHYLACETOACETIC ACIDURIA(203750) |
| DDB2 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E(278740) |
| BSG | BLOOD GROUP--OK(111380) |
| IVD | ISOVALERIC ACIDEMIA(243500) |
| ROM1 | RETINITIS PIGMENTOSA(268000) |
| AUH | 3-@METHYLGLUTACONIC ACIDURIA, TYPE I(250950) |
| PEX3 | ZELLWEGER SYNDROME(214100) PEROXISOME BIOGENESIS FACTOR 3(603164) PEROXISOME BIOGENESIS DISORDERS(601539) |
| CPOX | COPROPORPHYRIA(121300) |
| LDLR | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT(143890) |
| PRKAR1A | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1(610489) CARNEY COMPLEX, TYPE 1(160980) MYXOMA, INTRACARDIAC(255960) |
| MVK | MEVALONIC ACIDURIA(610377) HYPER-IgD SYNDROME(260920) |
| IL2RA | INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF(606367) |
| F2 | COAGULATION FACTOR II(176930) |
| LMO1 | LIM DOMAIN ONLY 1(186921) |
| ALB | ZINC, ELEVATED PLASMA(194470) ALBUMIN(103600) |
| ALOX5AP | MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2(608557) |
| ABCA3 | RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS(267450) |
| NPC1L1 | NPC1-LIKE 1(608010) |
| ATPAF2 | ATPAF2 DEFICIENCY(604273) |
| GCH1 | DYSTONIA, DOPA-RESPONSIVE(128230) GTP CYCLOHYDROLASE I DEFICIENCY(233910) |
| ERG | EWING SARCOMA BREAKPOINT REGION 1(133450) |
| TBXAS1 | THROMBOXANE A SYNTHASE 1(274180) |
| ATP13A2 | KUFOR-RAKEB SYNDROME(606693) |
| SLC25A3 | MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY(610773) |
| CERKL | RETINITIS PIGMENTOSA 26(608380) |
| PEX16 | PEROXISOME BIOGENESIS FACTOR 16(603360) ZELLWEGER SYNDROME(214100) PEROXISOME BIOGENESIS DISORDERS(601539) |
| GFAP | ALEXANDER DISEASE(203450) |
| ITGB2 | LEUKOCYTE ADHESION DEFICIENCY, TYPE I(116920) |
| ITGB4 | EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN(226650) EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA(226730) |
| CD44 | INDIAN BLOOD GROUP SYSTEM(609027) |
| CD46 | MEMBRANE COFACTOR PROTEIN(120920) HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS(235400) |
| CRYBB2 | CATARACT, AUTOSOMAL DOMINANT(604219) CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES(607133) CATARACT, COPPOCK-LIKE(604307) CATARACT, CONGENITAL, CERULEAN TYPE, 2(601547) |
| CRYBB3 | CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2(609741) |
| FXN | FRIEDREICH ATAXIA 1(229300) |
| HGD | ALKAPTONURIA(203500) |
| CFH | COMPLEMENT FACTOR H DEFICIENCY(609814) HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS(235400) MACULAR DEGENERATION, AGE-RELATED, 4(610698) |
| CA2 | OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS(259730) |
| ANK1 | SPHEROCYTOSIS, HEREDITARY(182900) |
| CHRND | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL(608930) MYASTHENIA GRAVIS(254200) MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL(601462) |
| EWSR1 | EWING SARCOMA BREAKPOINT REGION 1(133450) |
| FUCA2 | FUCOSIDASE, ALPHA-L, 2(136820) |
| SLC1A3 | SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER),(600111) |
| AAAS | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME(231550) |
| PCK1 | PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE(261680) |
| SFTPB | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1(265120) |
| SFTPC | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1(265120) PULMONARY FIBROSIS, IDIOPATHIC(178500) |
| RPGR | CONE-ROD DYSTROPHY, X-LINKED, 1(304020) RETINITIS PIGMENTOSA 3(300389) RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS(300455) |
| MIF | RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE(604302) |
| PKP2 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9(609040) |
| SLC25A19 | MICROCEPHALY, AMISH TYPE(607196) |
| SLC25A15 | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME(238970) |
| TSFM | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3(610505) |
| SLC12A6 | AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY(218000) |
| SLC12A1 | BARTTER SYNDROME, ANTENATAL, TYPE 1(601678) |
| CDH1 | ENDOMETRIAL CANCER(608089) GASTRIC CANCER(137215) |
| LIPA | WOLMAN DISEASE(278000) |
| WT1 | DENYS-DRASH SYNDROME(194080) WILMS TUMOR 1(194070) FRASIER SYNDROME(136680) GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME(137357) NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS(256370) |
| EXT1 | EXOSTOSES, MULTIPLE, TYPE I(133700) TRICHORHINOPHALANGEAL SYNDROME, TYPE II(150230) CHONDROSARCOMA(215300) |
| TPO | THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A(274500) |
| CHM | CHOROIDEREMIA(303100) |
| LDB3 | LIM DOMAIN-BINDING 3(605906) CARDIOMYOPATHY, DILATED, 1A(115200) MYOPATHY, MYOFIBRILLAR, ZASP-RELATED(609452) |
| KLK4 | AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE(204700) |
| PAFAH1B1 | LISSENCEPHALY I(607432) MILLER-DIEKER LISSENCEPHALY SYNDROME(247200) |
| EYA1 | BRANCHIOOTORENAL SYNDROME 1(113650) BRANCHIOOTIC SYNDROME 1(602588) |
| AVPR2 | NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS(300539) DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED(304800) |
| SLC2A4 | DIABETES MELLITUS, NONINSULIN-DEPENDENT(125853) |
| SLC2A2 | FANCONI-BICKEL SYNDROME(227810) |
| SLC2A1 | GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER(606777) |
| CYLD | CYLINDROMATOSIS, FAMILIAL(132700) |
| MMAA | METHYLMALONIC ACIDURIA, cblA TYPE(251100) |
| ALDH5A1 | SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY(271980) |
| ACTB | DYSTONIA, JUVENILE-ONSET(607371) |
| MMAB | METHYLMALONIC ACIDURIA, cblB TYPE(251110) |
| DBT | MAPLE SYRUP URINE DISEASE(248600) |
| SNX3 | MICROPHTHALMIA, SYNDROMIC 8(601349) |
| ALG8 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih(608104) |
| GGCX | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1(277450) PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR(610842) |
| CYB5R3 | METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE(250800) |
| CRELD1 | ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2(606217) ATRIOVENTRICULAR SEPTAL DEFECT(600309) |
| ATP7A | MENKES DISEASE(309400) CUTIS LAXA, X-LINKED(304150) |
| HCCS | MICROPHTHALMIA, SYNDROMIC 7(309801) |
| SLC11A2 | ANEMIA, HYPOCHROMIC MICROCYTIC(206100) |
| CYP2D6 | CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6(124030) DRUG METABOLISM, POOR, CYP2D6-RELATED(608902) |
| SLC11A1 | BURULI ULCER, SUSCEPTIBILITY TO(610446) |
| ADAR | DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1(127400) |
| FTSJ1 | MENTAL RETARDATION, X-LINKED 9(309549) |
| TKT | WERNICKE-KORSAKOFF SYNDROME(277730) |
| GCK | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3(602485) MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II(125851) |
| DLAT | PYRUVATE DEHYDROGENASE E2 DEFICIENCY(245348) |
| F10 | FACTOR X DEFICIENCY(227600) |
| CYP2R1 | 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE(600081) |
| GALNT3 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL(211900) HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME(610233) |
| IRF1 | CHROMOSOME 5q DELETION SYNDROME(153550) |
| DNAH5 | CILIARY DYSKINESIA, PRIMARY, 3(608644) |
| TBP | SPINOCEREBELLAR ATAXIA 17(607136) |
| PSEN2 | ALZHEIMER DISEASE(104300) ALZHEIMER DISEASE 4(606889) |
| NSD1 | WEAVER SYNDROME(277590) SOTOS SYNDROME(117550) BECKWITH-WIEDEMANN SYNDROME(130650) |
| BTK | HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED(307200) BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE(300300) |
| EPHX1 | HYPERCHOLANEMIA, FAMILIAL(607748) EPOXIDE HYDROLASE 1, MICROSOMAL(132810) |
| PDGFRA | HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC(607685) |
| EIF2B5 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER(603896) |
| EIF2B2 | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER(603896) |
| RFC2 | WILLIAMS-BEUREN SYNDROME(194050) |
| TRPC6 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2(603965) |
| SH3BP2 | CHERUBISM(118400) |
| PDE11A | PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2(610475) |
| NLRP7 | HYDATIDIFORM MOLE(231090) |
| MRE11A | ATAXIA-TELANGIECTASIA-LIKE DISORDER(604391) |
| NLRP3 | MUCKLE-WELLS SYNDROME(191900) CINCA SYNDROME(607115) FAMILIAL COLD AUTOINFLAMMATORY SYNDROME(120100) |
| ITGA2B | THROMBASTHENIA OF GLANZMANN AND NAEGELI(273800) |
| PSEN1 | ALZHEIMER DISEASE 3(607822) FRONTOTEMPORAL DEMENTIA(600274) |
| MYH9 | MAY-HEGGLIN ANOMALY(155100) EPSTEIN SYNDROME(153650) MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS(600208) SEBASTIAN SYNDROME(605249) FECHTNER SYNDROME(153640) DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17(603622) |
| TPM2 | ARTHROGRYPOSIS, DISTAL, TYPE 1(108120) NEMALINE MYOPATHY 4(609285) |
| TPM1 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3(115196) CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC(192600) |
| CST3 | AMYLOIDOSIS VI(105150) |
| ASL | ARGININOSUCCINIC ACIDURIA(207900) |
| ACVR2B | ACTIVIN A RECEPTOR, TYPE IIB(602730) |
| DPAGT1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij(608093) |
| NLGN3 | ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1(300494) AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1(300425) |
| TPMT | THIOPURINE S-METHYLTRANSFERASE DEFICIENCY(610460) |
| ENO3 | ENOLASE 3(131370) |
| PIP5K3 | CORNEAL FLECK DYSTROPHY(121850) |
| ALDH2 | ALDEHYDE DEHYDROGENASE 2 FAMILY(100650) |
| RAD51 | BREAST CANCER(114480) |
| SGSH | MUCOPOLYSACCHARIDOSIS TYPE IIIA(252900) |
| ERCC8 | COCKAYNE SYNDROME, TYPE A(216400) |
| TGFB2 | PETERS ANOMALY(604229) |
| DRD2 | MYOCLONIC DYSTONIA(159900) |
| ERCC2 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE(601675) CEREBROOCULOFACIOSKELETAL SYNDROME 2(610756) XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D(278730) |
| ERCC3 | TRICHOTHIODYSTROPHY, PHOTOSENSITIVE(601675) |
| ERCC5 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G(278780) COCKAYNE SYNDROME, TYPE A(216400) |
| POR | POR DEFICIENCY(201750) |
| PHKB | PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE(261750) |
| PFKM | GLYCOGEN STORAGE DISEASE VII(232800) |
| TOR1A | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT(128100) |
| ZAP70 | ZETA-CHAIN-ASSOCIATED PROTEIN KINASE(176947) |
| USH1C | USHER SYNDROME, TYPE I(276900) DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18(602092) USHER SYNDROME, TYPE IC(276904) |
| FCRL5 | BURKITT LYMPHOMA(113970) |
| RAC2 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME(608203) |
| ST3GAL5 | AMISH INFANTILE EPILEPSY SYNDROME(609056) |
| CYBA | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE(233690) |
| TNFRSF11A | PAGET DISEASE OF BONE(602080) POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE(174810) |
| KRIT1 | CEREBRAL CAVERNOUS MALFORMATIONS(116860) |
| NPSR1 | ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2(608584) |
| CTNS | CYSTINOSIS, ADULT NONNEPHROPATHIC(219750) CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE(219900) CYSTINOSIS, NEPHROPATHIC(219800) |
| AIRE | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I(240300) |
| RAPSN | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR(608931) |
| ITPA | INOSINE TRIPHOSPHATASE(147520) |
| COL5A1 | EHLERS-DANLOS SYNDROME, TYPE II(130010) EHLERS-DANLOS SYNDROME, TYPE I(130000) |
| TGFBI | GROENOUW TYPE I CORNEAL DYSTROPHY(121900) CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II(602082) CORNEAL DYSTROPHY, LATTICE TYPE I(122200) CORNEAL DYSTROPHY, LATTICE TYPE IIIA(608471) CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I(608470) CORNEAL DYSTROPHY, AVELLINO TYPE(607541) CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE(121820) |
| TUFM | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4(610678) |
| ACADVL | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF(201475) |
| ACTG1 | DEAFNESS, AUTOSOMAL DOMINANT 20(604717) |
| PCCB | PROPIONIC ACIDEMIA(606054) |
| ADA | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,(102700) |
| PEPD | PEPTIDASE D(170100) |
| PARK7 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET(606324) PARKINSON DISEASE(168600) |
| ATP6AP2 | MENTAL RETARDATION, X-LINKED, WITH EPILEPSY(300423) |
| PLA2G6 | KARAK SYNDROME(608395) NEUROAXONAL DYSTROPHY, INFANTILE(256600) NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED(610217) |
| CLN3 | CEROID LIPOFUSCINOSIS, NEURONAL, 3(204200) |
| DCX | LISSENCEPHALY, X-LINKED(300067) |
| GUSB | MUCOPOLYSACCHARIDOSIS TYPE VII(253220) |
| BRCA1 | BREAST CANCER 1 GENE(113705) BREAST CANCER(114480) |
| FMO3 | TRIMETHYLAMINURIA(602079) |
| TRMU | DEAFNESS, AMINOGLYCOSIDE-INDUCED(580000) |
| AQP3 | GIL BLOOD GROUP(607457) |
| HMGCL | 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY(246450) |
| CDH23 | USHER SYNDROME, TYPE I(276900) USHER SYNDROME, TYPE ID(601067) DEAFNESS, AUTOSOMAL RECESSIVE 12(601386) |
| CLCN7 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE(259700) OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II(166600) |
| SLC25A22 | MYOCLONIC EPILEPSY, NEONATAL, WITH SUPPRESSION-BURST PATTERN(609304) |
| RPL10 | AUTISM(209850) |
| HMGCR | 3-@HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE(142910) |
| ROR2 | BRACHYDACTYLY, TYPE B1(113000) ROBINOW SYNDROME, AUTOSOMAL RECESSIVE(268310) |
| FGFR1 | PFEIFFER SYNDROME(101600) OSTEOGLOPHONIC DYSPLASIA(166250) TRIGONOCEPHALY, NONSYNDROMIC(190440) HYPOGONADOTROPIC HYPOGONADISM(146110) KALLMANN SYNDROME 2(147950) |
| ATIC | AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF(608688) |
| MASP2 | MANNAN-BINDING LECTIN SERINE PROTEASE 2(605102) |
| RUNX1 | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY(601399) |
| AMMECR1 | ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS(300195) AMME COMPLEX(300194) |
| FBP1 | FRUCTOSE-1,6-BISPHOSPHATASE 1(229700) |
| RGR | RETINITIS PIGMENTOSA(268000) |
| HRAS | COSTELLO SYNDROME(218040) BLADDER CANCER(109800) |
| IFNGR1 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL(209950) |
| NDRG1 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D(601455) |
| PRPF3 | RETINITIS PIGMENTOSA 18(601414) |
| JARID1C | MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED(300534) |
| AFF2 | FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28)(309548) |
| YARS | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C(608323) |
| SCNN1B | LIDDLE SYNDROME(177200) PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE(264350) |
| SURF1 | LEIGH SYNDROME(256000) MITOCHONDRIAL COMPLEX IV DEFICIENCY(220110) |
| TRPM6 | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA(602014) |
| B4GALT7 | EHLERS-DANLOS SYNDROME, PROGEROID FORM(130070) |
| UMPS | OROTIC ACIDURIA I(258900) |
| WWOX | ESOPHAGEAL CANCER(133239) |
| LAMC2 | EPIDERMOLYSIS BULLOSA LETALIS(226700) |
| GPHN | MOLYBDENUM COFACTOR DEFICIENCY(252150) |
| TP53 | SQUAMOUS CELL CARCINOMA, HEAD AND NECK(275355) LUNG CANCER(211980) ESOPHAGEAL CANCER(133239) PAPILLOMA OF CHOROID PLEXUS(260500) LI-FRAUMENI SYNDROME 1(151623) TUMOR PROTEIN p53(191170) |
| GNAS | OSSEOUS HETEROPLASIA, PROGRESSIVE(166350) ALBRIGHT HEREDITARY OSTEODYSTROPHY(103580) MCCUNE-ALBRIGHT SYNDROME(174800) GNAS COMPLEX LOCUS(139320) ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA(219080) ACROMEGALY(102200) |
| SLC3A1 | CYSTINURIA(220100) |
| SH2D1A | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1(308240) |
| ADAMTS10 | WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE(277600) |
| ADAMTS13 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS(235400) THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL(274150) |
| NTRK2 | NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2(600456) |
| PGBD3 | CEREBROOCULOFACIOSKELETAL SYNDROME 1(214150) COCKAYNE SYNDROME, TYPE B(133540) DE SANCTIS-CACCHIONE SYNDROME(278800) |
| STAT1 | ATYPICAL MYCOBACTERIOSIS, FAMILIAL(209950) SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1(600555) |
| CHRNB1 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR(608931) MYASTHENIA GRAVIS(254200) MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL(601462) |
| TALDO1 | TRANSALDOLASE DEFICIENCY(606003) |
| C3 | COMPLEMENT COMPONENT 3(120700) |
| FLII | SMITH-MAGENIS SYNDROME(182290) |
| LFNG | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3(609813) |
| COCH | MENIERE DISEASE(156000) DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9(601369) |
| IGBP1 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA(300472) |
| ACACA | ACETYL-CoA CARBOXYLASE-ALPHA(200350) |
| VCAN | WAGNER SYNDROME 1(143200) |
| SALL4 | DUANE-RADIAL RAY SYNDROME(607323) |
| UCHL1 | UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1(191342) |
| KCNJ1 | BARTTER SYNDROME, ANTENATAL, TYPE 2(241200) |
| TNFRSF1A | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT(142680) |
| CAPN10 | DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1(601283) DIABETES MELLITUS, NONINSULIN-DEPENDENT(125853) |
| COL1A2 | OSTEOGENESIS IMPERFECTA, TYPE I(166200) OSTEOGENESIS IMPERFECTA, TYPE III(259420) EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM(225320) EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT(130060) OSTEOGENESIS IMPERFECTA, TYPE IIA(166210) OSTEOGENESIS IMPERFECTA, TYPE IV(166220) |
| COL1A1 | EHLERS-DANLOS SYNDROME, TYPE I(130000) OSTEOGENESIS IMPERFECTA, TYPE I(166200) DERMATOFIBROSARCOMA PROTUBERANS(607907) OSTEOGENESIS IMPERFECTA, TYPE III(259420) EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT(130060) OSTEOGENESIS IMPERFECTA, TYPE IIA(166210) OSTEOGENESIS IMPERFECTA, TYPE IV(166220) |
| SAT1 | KERATOSIS FOLLICULARIS SPINULOSA DECALVANS(308800) |
| BPGM | DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE(222800) |
| ANTXR2 | HYALINOSIS, INFANTILE SYSTEMIC(236490) FIBROMATOSIS, JUVENILE HYALINE(228600) |
| ECM1 | LIPOID PROTEINOSIS OF URBACH AND WIETHE(247100) |
| PEX19 | PEROXISOMAL FARNESYLATED PROTEIN(600279) ZELLWEGER SYNDROME(214100) PEROXISOME BIOGENESIS DISORDERS(601539) |
| MPDU1 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If(609180) |
| TRIM24 | THYROID CARCINOMA, PAPILLARY(188550) |
| MID1 | OPITZ SYNDROME(300000) |
| PTHLH | PARATHYROID HORMONE-LIKE HORMONE(168470) |
| TBX22 | CLEFT PALATE, X-LINKED(303400) |
| WDR36 | GLAUCOMA 1, OPEN ANGLE, G(609887) |
| NT5C3 | URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA(266120) |
| RGS9 | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION(608415) |
| PIGA | PHOSPHATIDYLINOSITOL GLYCAN, CLASS A(311770) |
| SMARCB1 | RHABDOID TUMOR(609322) |
| GTPBP3 | DEAFNESS, AMINOGLYCOSIDE-INDUCED(580000) |
| ALDOA | ALDOLASE A, FRUCTOSE-BISPHOSPHATE(103850) |
| KLK1 | KALLIKREIN 1(147910) |
| PON1 | PARAOXONASE 1(168820) |
| CASP8 | CASPASE 8 DEFICIENCY(607271) |
| NDUFS1 | MITOCHONDRIAL COMPLEX I DEFICIENCY(252010) |
| NDUFS2 | MITOCHONDRIAL COMPLEX I DEFICIENCY(252010) |
| ABCC8 | DIABETES MELLITUS, PERMANENT NEONATAL(606176) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3(602485) HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1(256450) HYPOGLYCEMIA, LEUCINE-INDUCED(240800) DIABETES MELLITUS, TRANSIENT NEONATAL, 2(610374) |
| MAPT | FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE(607485) SUPRANUCLEAR PALSY, PROGRESSIVE, 1(601104) PARKINSON-DEMENTIA SYNDROME(260540) PICK DISEASE OF BRAIN(172700) FRONTOTEMPORAL DEMENTIA(600274) MICROTUBULE-ASSOCIATED PROTEIN TAU(157140) |
| NDUFS7 | MITOCHONDRIAL COMPLEX I DEFICIENCY(252010) LEIGH SYNDROME(256000) |
| C1S | COMPLEMENT COMPONENT 1, s SUBCOMPONENT(120580) |
| TBL2 | WILLIAMS-BEUREN SYNDROME(194050) |
| COL6A3 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY(254090) BETHLEM MYOPATHY(158810) |
| KCNE1 | POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1;(176261) JERVELL AND LANGE-NIELSEN SYNDROME(220400) |
| HBD | SICKLE CELL ANEMIA(603903) HEMOGLOBIN--BETA LOCUS(141900) BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE(603902) |
| CASP10 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA(603909) |
| OAT | ORNITHINE AMINOTRANSFERASE DEFICIENCY(258870) |
| CHRNA2 | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4(610353) |
| DMGDH | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY(605850) |
| GSN | AMYLOIDOSIS V(105120) |
| PPT1 | CEROID LIPOFUSCINOSIS, NEURONAL, 1(256730) (600680) CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE(204300) |
| RXFP2 | CRYPTORCHIDISM, UNILATERAL OR BILATERAL(219050) |
| LYZ | AMYLOIDOSIS, FAMILIAL VISCERAL(105200) |
| LIG4 | LIG4 SYNDROME(606593) |
| CAPN3 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A(253600) |
| EDN3 | WAARDENBURG-SHAH SYNDROME(277580) HIRSCHSPRUNG DISEASE(142623) AUTONOMIC CONTROL, CONGENITAL FAILURE OF(209880) |
| TREH | TREHALASE(275360) |
| MTM1 | MYOTUBULAR MYOPATHY 1(310400) |
| HK1 | HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA(235700) |
| FLI1 | EWING SARCOMA BREAKPOINT REGION 1(133450) |
| ENPP1 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY(208000) DIABETES MELLITUS, NONINSULIN-DEPENDENT(125853) OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE(602475) |
| PMS1 | POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1(600258) |
| TDP1 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY;(607250) |
| TJP2 | HYPERCHOLANEMIA, FAMILIAL(607748) |
| CIRH1A | NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS(604901) |
| TBX3 | ULNAR-MAMMARY SYNDROME(181450) |
| HYAL1 | HYALURONIDASE DEFICIENCY(601492) |
| TLR4 | TOLL-LIKE RECEPTOR 4(603030) |
| SLC19A2 | THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME(249270) |
| NFKBIA | NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR,(164008) |
| CD151 | RAPH BLOOD GRO |