All diseases

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

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00423 - cancer, endometrial 608089 202 169 CDH1, MLH3, MSH3, MSH6, PTEN - -
00683 - cancer, breast, familial 114480 8011 749 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 215 150 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) - 61 30 CDH1 - -
05458 DFN deafness, nonsyndromic (DFN) - 42 42 CDH23, CEACAM16, MYO15A, MYO6, MYO7A, OTOF, PCDH15, TECTA, TMC1, USH1C - -
05400 DFNB deafness, autosomal recessive (DFNB) - 869 869 CDH23, MYO15A, MYO7A, OTOF, 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 67 67 CDH1, IL1B, IL1RN, KRAS, MUTYH - -
00139 ID intellectual disability (ID) - 902 791 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 518 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) - 84 84 CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
02115 USH-1 Usher syndrome, type 1 (USH-1) - 642 642 CDH23, MYO7A, PCDH15, USH1C, USH1G - -
02413 USH-1F Usher syndrome, type 1F (USH-1F) 602083 0 0 PCDH15 - -