All diseases

22 entries on 1 page. Showing entries 1 - 22.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00423 - cancer, endometrial 608089 AD;SMu 225 191 CDH1, MLH3, MSH3, MSH6, PTEN - -
05303 BCDS blepharocheilodontic syndrome (BCDS) - - 36 36 CDH1, CTNND1 - -
05638 BCDS1 blepharocheilodontic syndrome, type 1 (BCDS-1) 119580 AD - - CDH1 - lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, conical teeth and (rare) imperforate anus
00683 cancer, breast cancer, breast, susceptibility 114480 - 8103 786 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
00424 cancer, ovarian cancer, ovarian 167000 - 231 165 AKT1, CDH1, CTNNB1, OPCML, PARK2, PIK3CA - -
01524 cancer, prostate cancer, prostate 176807 AD;SMu 210 199 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) - - 49 43 CDC14A, CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C - -
05400 DFNB deafness, autosomal recessive (DFNB) - - 914 912 CDH23, CIB2, FAM65B, HGF, MYO15A, MYO7A, OTOF, OTOG, PCDH15, S1PR2, SERPINB6, STRC, TMC1, USH1C - autosomal recessive
02858 DFNB23 deafness, autosomal recessive, type 23 (DFNB-23) 609533 AR 1 1 PCDH15 - -
04252 DGC cancer, gastric, diffuse (DGC) - - - - CDH1 - -
06650 DMJDS1 dysplasia, diencephalic-mesencephalic junction, syndrome 1 251280 AR - - PCDH12 - -
02142 EIEE9 encephalopathy, epileptic, early infantile, type 9 (EIEE-9) 300088 XL 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) - - - - CDH1 - -
06285 ESWS Elsahy-Waters syndrome 211380 AR - - CDH11 - -
00334 HDGC cancer, gastric, hereditary diffuse (HDGC) 137215 AD 69 69 CDH1, IL1B, IL1RN, KRAS, MUTYH - -
00139 ID intellectual disability (ID) - - 2457 2143 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
04253 LBC cancer, breast, lobular (LBC) - - - - CDH1 - -
01110 MRD3 mental retardation, autosomal dominant, type 3 (MRD-3) 612580 - - - CDH15 - -
05415 USH Usher syndrome (USH) - - 455 453 ARSG, CDH23, CIB2, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
02115 USH1 Usher syndrome, type I (USH-1) - - 645 646 CDH23, MYO7A, PCDH15, USH1C, USH1G - -
02413 USH1F Usher syndrome, type 1F (USH-1F) 602083 AR 2 2 PCDH15 - -
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