All diseases

15 entries on 1 page. Showing entries 1 - 15.
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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 - 0 0 ZNF750 - -
00302 ACLS;JBTS-12 acrocallosal syndrome; (ACLS, Joubert syndrome, type 12 (JBTS-12)) 200990 - 9 9 KIF7 - -
00304 ANEN anencephaly (ANEN) 206500 - 3 3 KIF7 - -
05952 CAFDADD cardiac, facial, and digital anomalies with developmental delay (CAFDADD) 618164 AD 0 0 TRAF7 - -
00494 F7D deficiency, factor VII (F7D) 227500 - 332 332 F7 - -
00025 FTDALS dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS) 105550 - 277 11 C9orf72 - -
00303 HLS-2 hydrolethalus syndrome, type 2 (HLS-2) 614120 - 1 1 KIF7 - -
00139 ID intellectual disability (ID) - - 1837 1570 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 536 more - -
04523 IMD-39 immunodeficiency?, type 39 (IMD-39) 616345 - 0 0 IRF7 - -
02760 MCI-1 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 0 0 ZNF711 - -
00244 MYOP myopathy (MYOP) - - 537 469 FDX1L, FXR1, MYL1, NDUFAF7 - -
00151 NIDDM diabetes mellitus, noninsulin-dependent (NIDDM) 125853 - 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 PVNH-6 heterotopia, nodular, periventricular, type 6 (PVNH-6) 615544 - 0 0 C6orf70 - -
03333 RP54 retinitis pigmentosa, type 54 (RP54) 613428 - 0 0 C2orf71 - -
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