All diseases

29 entries on 1 page. Showing entries 1 - 29.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00600 - nevus, epidermal 162900 - - - FGFR3, HRAS, NRAS, PIK3CA - -
00683 - cancer, breast, familial 114480 - - - AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
01221 - Hepatocellular carcinoma 114550 - - - APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 - -
01267 - Fleck corneal dystrophy 121850 - - - PIKFYVE - -
01556 - keratosis, seborrheic 182000 - - - PIK3CA - -
03381 - cancer, gastric (Neoplasm of stomach) 613659 - - - APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
03980 - Activated PI3K-delta syndrome 615513 - - - PIK3CD - -
03854 AGM-7 agammaglobulinemia, type 7, autosomal recessive (AGM-7) 615214 - - - PIK3R1 - -
00163 AMCBX-1 mycobacteriosis, atypical, familial, X-linked (AMCBX-1) 300636 - - - IKBKG - -
00853 AOA-3 ataxia-oculomotor apraxia, type 3 (AOA-3) 615217 - - - PIK3R5 - -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - - - BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SLC22A18 - -
00424 cancer, ovarian cancer, ovarian 167000 - - - AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
03203 CLOVE CLOVE syndrome, somatic (CLOVE, overgrowth, lipomatous, congenital, vascular malformations, and epidermal nevi) 612918 - - - PIK3CA - -
00091 CRC cancer, colorectal (CRC) 114500 - - - AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
03831 CWS-5 Cowden syndrome, type 5 (CWS-5) 615108 - - - PIK3CA - -
04660 EIEE-30 encephalopathy, epileptic, early infantile, type 30 (EIEE-30) 616341 - - - SIK1 - -
00158 HEDID dysplasia, ectodermal, hypohidrotic, with immune deficiency (HEDID) 300291 - - - IKBKG - -
01758 HSAN-3 neuropathy, sensory and autonomic, hereditary, type III (HSAN-3, dysautonomia) 223900 - - - IKBKAP - -
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 - -
00160 IMD immunodeficiency, isolated (IMD) 300584 - - - IKBKG - -
04019 IMD-15 immunodeficiency, type 15 (IMD-15) 615592 - - - IKBKB - -
04613 IMD-36 immunodeficiency, type 36 (IMD-36) 616005 - - - PIK3R1 - -
00161 IP-2 incontinentia pigmenti, type II (IP-2) 308300 - - - IKBKG - -
00162 IPD-2 invasive pneumococcal disease, recurrent isolated, type 2 (IPD-2) 300640 - - - IKBKG - -
00382 MCAP megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP) 602501 - - - PIK3CA - -
00844 MPPH-1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1) 603387 - - - PIK3R2 - -
00796 MRT-6 mental retardation, autosomal recessive, type 6 (MRT-6) 611092 - - - GRIK2 - -
00159 OLEDAID dysplasia, ectodermal, anhidrotic, lymphedema and immunodeficiency (OLEDAID) 300301 - - - IKBKG - -
02070 SHORT SHORT syndrome (SHORT) 269880 - - - PIK3R1 - -
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