CDH1, cadherin 1, 999

N. diseases: 73; N. variants: 158
Disease: Blepharo-cheilo-dontic syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861536
Disease: Blepharo-cheilo-dontic syndrome
Blepharo-cheilo-dontic syndrome 		0.320 GermlineCausalMutation disease ORPHANET Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.Genet Med advance online publication 09 March 2017. 28301459 2017