All diseases

40 entries on 1 page. Showing entries 1 - 40.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00600 - nevus, epidermal 162900 - 1 1 FGFR3, HRAS, NRAS, PIK3CA - -
01556 - keratosis, seborrheic 182000 - - - PIK3CA - -
03854 AGM7 agammaglobulinemia, type 7, autosomal recessive (AGM7) 615214 AR - - PIK3R1 - -
05519 AOA ataxia-oculomotor apraxia (AOA) - - 15 14 APTX, PIK3R5, PNKP, SETX - -
00853 AOA3 ataxia-oculomotor apraxia, type 3 (AOA-3) 615217 AR 1 1 PIK3R5 - -
00683 cancer, breast cancer, breast, susceptibility 114480 - 8104 787 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
03381 cancer, gastric cancer, gastric (Neoplasm of stomach) 613659 - 102 88 APC, CASP10, ERBB2, FGFR2, IRF1, KLF6, MUTYH, PIK3CA - -
01221 cancer, liver cancer, hepatocellular (HCC) 114550 - 4 4 APC, AXIN1, CASP8, CTNNB1, IGF2R, MET, PDGFRL, PIK3CA, TP53 liver -
00639 cancer, lung cancer, lung (adenocarcinoma) 211980 - 55 43 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
00424 cancer, ovarian cancer, ovarian 167000 - 233 165 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
01267 CFD dystrophy, corneal, Fleck 121850 AD - - PIKFYVE - -
06553 CLAPO CLAPO syndrome, somatic 613089 - - - PIK3CA - -
03203 CLOVE CLOVE syndrome, somatic (CLOVE, overgrowth, lipomatous, congenital, vascular malformations, and epidermal nevi) 612918 - - - PIK3CA - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
06735 CVID13 Immunodeficiency, common variable, 13 616873 AD - - IKZF1 - -
03831 CWS5 Cowden syndrome, type 5 (CWS-5) 615108 - 1 1 PIK3CA - -
05524 EDAID dysplasia, ectodermal, and immunodeficiency (EDAID) - - 1 1 IKBKG, NFKBIA - -
00158 EDAID1 dysplasia, ectodermal, and immunodeficiency, type 1 (EDAID-1, HEDID) 300291 - - - IKBKG - -
04660 EIEE30 encephalopathy, epileptic, early infantile, type 30 (EIEE-30) 616341 AD 2 2 SIK1 - -
05383 HSAN neuropathy, sensory and autonomic, hereditary (HSAN) - - 22 22 IKBKAP - -
01758 HSAN3 neuropathy, sensory and autonomic, hereditary, type III (HSAN-3, dysautonomia) 223900 AR - - IKBKAP - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
03980 IMD14 Immunodeficiency 14 615513 AD - - PIK3CD - -
06795 IMD15A Immunodeficiency 15A 618204 AD - - IKBKB - -
04019 IMD15B immunodeficiency, type 15B 615592 AR - - IKBKB - -
00163 IMD33 Immunodeficiency 33 300636 XLR 1 1 IKBKG - -
04613 IMD36 immunodeficiency, type 36 (IMD-36) 616005 AD - - PIK3R1 - -
00160 IMDI immunodeficiency, isolated (IMDI) 300584 - 2 2 IKBKG - -
00161 IP incontinentia pigmenti (IP) 308300 XLD 140 61 IKBKG - -
00162 IPD2 invasive pneumococcal disease, recurrent isolated, type 2 (IPD2) 300640 XLD - - IKBKG - -
00382 MCAP megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP) 602501 - 2 2 PIK3CA - -
01429 MDB medulloblastoma (MDB) 155255 AD;AR;SMu 33 31 BRCA2, CTNNB1, IKBKAP, PTCH2, SUFU - -
06548 MEGALODACTYLY Macrodactyly, somatic 155500 - - - PIK3CA - -
00844 MPPH1 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1) 603387 AD 3 3 PIK3R2 - -
06565 MRT54 Mental retardation, autosomal recessive 54 617028 AR - - TNIK - -
00796 MRT6 mental retardation, autosomal recessive, type 6 (MRT-6) 611092 AR - - GRIK2 - -
06144 OCSKD Oculoskeletodental syndrome 618440 AR - - PIK3C2A - -
00159 OLEDAID dysplasia, ectodermal, anhidrotic, lymphedema and immunodeficiency (OLEDAID) 300301 - - - IKBKG - -
06128 SEMDK ?Spondyloepimetaphyseal dysplasia, Krakow type 618162 AR - - SIK3 - -
02070 SHORT SHORT syndrome (SHORT) 269880 AD 6 6 PIK3R1 - -
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