All diseases

19 entries on 1 page. Showing entries 1 - 19.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02917 - Seborrhea-like dermatitis with psoriasiform elements 610227 - - - ZNF750 - -
00302 ACLS;JBTS12 acrocallosal syndrome; (ACLS, Joubert syndrome, type 12 (JBTS-12)) 200990 AR 9 9 KIF7 - -
06257 AGBK ?Al-Gazali-Bakalinova syndrome 607131 AR - - KIF7 - -
00304 ANPH anencephaly (ANPH) 206500 AR 3 3 KIF7 - -
05952 CAFDADD cardiac, facial, and digital anomalies with developmental delay (CAFDADD) 618164 AD - - TRAF7 - -
06125 CILD38 Ciliary dyskinesia, primary, 38 618063 AR - - C11orf70 - -
06439 COXPD37 Combined oxidative phosphorylation deficiency 37 618329 AR - - C19orf70 - -
00494 F7D deficiency, factor VII (F7D) 227500 AR 333 332 F7 - -
00025 FTDALS dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS) 105550 AD 277 11 C9orf72 - -
06110 HLD13 Leukodystrophy, hypomyelinating, 13 616881 AR - - C11orf73 - -
00303 HLS2 hydrolethalus syndrome, type 2 (HLS-2) 614120 AR 1 1 KIF7 - -
00139 ID intellectual disability (ID) - - 2708 2390 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
04523 IMD39 immunodeficiency?, type 39 (IMD-39) 616345 AR - - IRF7 - -
02760 MCI1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - 41 2 ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
00831 MRX97 mental retardation, X-linked, type 97 (MRX97) 300803 XL 2 1 ZNF711 - -
00244 MYOP myopathy (MYOP) - - 1055 986 FDX1L, FXR1, JPH1, MLIP, MYL1, NDUFAF7, PLIN4 - -
00151 NIDDM diabetes mellitus, type II (NIDDM) 125853 AD 8 7 ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
03996 PVNH6 heterotopia, nodular, periventricular, type 6 615544 AD - - C6orf70 - -
03333 RP54 retinitis pigmentosa, type 54 (RP54) 613428 - 2 - C2orf71 - -
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