All diseases

20 entries on 1 page. Showing entries 1 - 20.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00423 - cancer, endometrial 608089 - 207 174 CDH1, MLH3, MSH3, MSH6, PTEN - -
00683 - cancer, breast, familial 114480 - 8099 782 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
05303 BCDS syndrome, blepharocheilodontic (BCDS) - - 36 36 CDH1, CTNND1 - -
05638 BCDS-1 syndrome, blepharocheilodontic, type 1 (BCDS-1) 119580 - 0 0 CDH1 - lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, conical teeth and (rare) imperforate anus
00424 cancer, ovarian cancer, ovarian 167000 - 217 152 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
01524 cancer, prostate cancer, prostate 176807 - 200 196 AR, BRCA2, CD82, CDH1, CHEK2, HIP1, KLF6, MAD1L1, MSR1, MXI1, PTEN, ZFHX3 - -
04254 CLP cleft lip, cleft palate (CLP) - - 62 30 CDH1 - -
05458 DFN deafness, nonsyndromic (DFN) - - 42 42 CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, TECTA, TMC1, USH1C - -
05400 DFNB deafness, autosomal recessive (DFNB) - - 869 869 CDH23, MYO15A, MYO7A, OTOF, OTOG, PCDH15, STRC, TMC1, USH1C - autosomal recessive
02858 DFNB-23 deafness, autosomal recessive, type 23 (DFNB-23) 609533 - 1 1 PCDH15 - -
04252 DGC cancer, gastric, diffuse (DGC) - - 0 0 CDH1 - -
02142 EIEE-9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 - 42 8 PCDH19 - early infantile epileptic encephalopathy, also known as epilepsy and mental retardation restricted to females (EFMR)
04251 EODGC cancer, gastric, diffuse, early onset (EODGC) - - 0 0 CDH1 - -
00334 HDGC cancer, gastric, hereditary diffuse (HDGC) 137215 - 68 68 CDH1, IL1B, IL1RN, KRAS, MUTYH - -
00139 ID intellectual disability (ID) - - 1037 913 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 521 more - -
04253 LBC cancer, breast, lobular (LBC) - - 0 0 CDH1 - -
01110 MRD-3 mental retardation, autosomal dominant, type 3 (MRD-3) 612580 - 0 0 CDH15 - -
05415 USH Usher syndrome (USH) - - 86 86 CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
02115 USH-1 Usher syndrome, type 1 (USH-1) - - 642 643 CDH23, MYO7A, PCDH15, USH1C, USH1G - -
02413 USH-1F Usher syndrome, type 1F (USH-1F) 602083 - 1 1 PCDH15 - -
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