All diseases

57 entries on 1 page. Showing entries 1 - 57.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00566 - Wolcott-Rallison syndrome 226980 - - - EIF2AK3 - -
00614 - mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 613443 - - - MEF2C - -
00754 - Van den Ende-Gupta syndrome 600920 - - - SCARF2 - -
00840 - mental retardation, X-linked, FRAXE type 309548 - - - AFF2 - -
01221 - Hepatocellular carcinoma 114550 - - - APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 - -
01581 - Thrombophilia 188050 - - - F13A1, F2, HABP2, MTHFR - -
01599 - hypophosphatemic rickets, autosomal dominant 193100 - - - FGF23 - -
01698 - ataxia, cerebellar, and hypogonadotropic hypogonadism 212840 - - - RNF216 - -
02020 - alpha-2-plasmin inhibitor deficiency 262850 - - - SERPINF2 - -
02354 - stroke, ischemic, susceptibility to 601367 - - - ALOX5AP, F2, F5, NOS3, PRKCH - -
02470 - Leukoencephalopathy with vanishing white matter 603896 - - - EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 - -
02733 - heterotopia, periventricular, autosomal recessive 608097 - - - ARFGEF2 - -
03389 - Prothrombin deficiency 613679 - - - F2 - -
03945 - Specific language impairment 5 615432 - - - TM4SF20 - -
02750 ADCAD-1 artery, coronary, disease, autosomal dominant, type 1 (ADCAD-1) 608320 - - - MEF2A - -
03740 AI2A-4 amelogenesis imperfecta, hypomaturation type, IIA4 (AI2A-4) 614832 - - - C4orf26 - -
04435 ARCI-5 Ichthyosis, congenital, autosomal recessive, type 5 (ARCI-5) 604777 - - - CYP4F22 - -
03931 CDCBM-3 dysplasia ,cortical, complex, with other brain malformations, type 3 (CDCBM-3) 615411 - - - KIF2A - -
01332 CFEOM-1 fibrosis, extraocular muscles, congenital, type 1 135700 - - - KIF21A - -
01832 CGD-2 granulomatous disease, chronic, due to deficiency of NCF-2, type 2 233710 - - - NCF2 - -
04083 CHTD-4 heart defects, congenital, multiple types, type 4 (CHTD-4) 615779 - - - NR2F2 - -
03142 CILD-10 dyskinesia, ciliary, primary, 10 (CILD-10) 612518 - - - DNAAF2 - -
02518 CMT-4B2 Charcot-Marie-Tooth disease, type 4B2 (CMT-4B2) 604563 - - - SBF2 - -
03652 CMTDIE Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE) 614455 - - - INF2 - -
03511 DKCA-3 dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3) 613990 - - - TINF2 - -
03289 FSGS-5 glomerulosclerosis, segmental, focal, type 5 (FSGS-5) 613237 - - - INF2 - -
04512 GRDF growth restriction, severe, with distinctive facies (GRDF) 616489 - - - IGF2 - -
04472 HFTC calcinosis, tumoral, hyperphosphatemic, familial (HFTC) 211900 - - - FGF23, GALNT3, KL - -
03975 HHT-5) telangiectasia, hemorrhagic, hereditary, type 5 (HHT-5) 615506 - - - GDF2 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00038 LS Leigh syndrome (LS) 256000 - - - BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00611 MC1DN mitochondrial complex I deficiency (MC1DN) 252010 - - - FOXRED1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL - -
02490 MC5DN-1 mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1) 604273 - - - ATPAF2 - -
02638 meningioma meningioma, familial, susceptibility to 607174 - - - MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
04025 MRT-40 mental retardation, autosomal recessive, type 40 (MRT-40) 615599 - - - TAF2 - -
00040 MTDPS-7 mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7) 271245 - - - C10orf2 - -
02636 MYMY-2 moyamoya disease, type 2 (MYMY-2) 607151 - - - RNF213 - -
01159 NF-2 neurofibromatosis, type 2 (NF-2) 101000 - - - NF2 - -
00151 NIDDM diabetes mellitus, noninsulin-dependent (NIDDM) 125853 - - - ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
02695 PARK-11 Parkinson disease, type 11 (PARK-11) 607688 - - - GIGYF2 - -
00041 PEOA-3 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3) 609286 - - - C10orf2 - -
02382 PGL-2 paragangliomas, type 2 (PGL-2) 601650 - - - SDHAF2 - -
04386 PRLTS-5 Perrault syndrome, type 5 (PRLTS-5) 616138 - - - C10orf2 - -
01837 PVOD-2 venoocclusive disease, pulmonary, type 2 (PVOD-2) 234810 - - - EIF2AK4 - -
02055 Revesz Revesz syndrome 268130 - - - TINF2 - -
04061 RHDA-2 hypodysplasia/aplasia, renal, type 2 (RHDA-2) 615721 - - - FGF20 - -
03626 RPRGL-2 pregnancy loss, recurrent, susceptibility to, type 2 (RPRGL-2) 614390 - - - F2 - -
03082 RRQTL-1 recombination rate quantitative trait locus 1 (RRQTL-1) 612042 - - - RNF212 - -
02843 SCA-26 ataxia, spinocerebellar, type 26 (SCA-26) 609306 - - - EEF2 - -
02457 SEMDJL-2 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-2) 603546 - - - KIF22 - -
04181 SMDP-4 surfactant metabolism dysfunction, pulmonary, type 4 (SMDP-4) 300770 - - - CSF2RA - -
03614 SMDP-5 surfactant metabolism dysfunction, pulmonary, type 5 (SMDP-5) 614370 - - - CSF2RB - -
00436 SWNTS-1 Schwannomatosis, type 1 (SWNTS-1) 162091 - - - LZTR1, NF2, SMARCB1 - -
01405 TOC tylosis, with esophageal cancer (TOC, Howel-Evans syndrome) 148500 - - - RHBDF2 - -
00748 TTD trichothiodystrophy (TTD) - - - - ERCC2, ERCC3, GTF2H5, MPLKIP - -
04325 TTD-3 trichothiodystrophy, type 3, photosentitive (TTD-3) 616395 - - - GTF2H5 - -
02378 WT-5 Wilms tumor, type 5 (WT-5) 601583 - - - POU6F2 - -
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