CDH1, cadherin 1, 999

N. diseases: 508; N. variants: 187
Disease: Cleft palate with cleft lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.330 GeneticVariation disease BEFREE Review of the literature revealed a significant enrichment of CDH1 mutations within the EC domains in CLP/HDGC families (Fisher's exact test, p = 0.007) in comparison to CDH1 mutations associated with HDGC only. 30306390 2019
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.330 GeneticVariation disease BEFREE CDH1 mutations are known to be associated with non-syndromic cleft lip/palate, while PLS3 mutations are associated with osteoporosis. 27566442 2016
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.330 SusceptibilityMutation disease ORPHANET Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. 23197654 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.330 GeneticVariation disease BEFREE Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 15831593 2006