All diseases

13 entries on 1 page. Showing entries 1 - 13.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
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 -
06446 CDCBM10 Cortical dysplasia, complex, with other brain malformations 10 618677 AR - - APC2 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3060 1833 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
00313 DESMD desmoid disease, hereditary 135290 AD - - APC - -
00312 FAP1 adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome) 175100 AD 4377 4377 APC - -
02548 HYPT1 hypotrichosis, type 1 (HYPT-1) 605389 AD - - APCDD1 - -
05611 NDD neurodevelopmental delay (NDD) - - 2454 2335 ACBD6, ADARB1, AP1G1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EIF2C1, EIF2C2, EIF4A2, EXOC8, FIBCD1, FRMD5, 49 more - -
00314 polyposis polyposis - - 171 163 APC - -
06489 RTS1 Rothmund-Thomson syndrome, type 1 618625 AR - - ANAPC1 - -
00054 RTS2 Rothmund-Thomson syndrome, type 2, 268400 AR 35 40 ANAPC1, RECQL4 - -
05245 SOTOS Sotos syndrome (SOTOS) - - 52 47 APC2, NFIX, NSD1 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
05244 SOTOS3 Sotos syndrome, type 3 (SOTOS-3) 617169 AR - - APC2 - -
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