CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
0.600 GeneticVariation disease UNIPROT Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 28301459 2017
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. 27566442 2016
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
0.600 CausalMutation disease CLINVAR