NECTIN1, nectin cell adhesion molecule 1, 5818

N. diseases: 196; N. variants: 5
Disease: Cleft upper lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 GeneticVariation disease BEFREE Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate. 24581844 2014
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 Biomarker disease BEFREE Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule. 20691405 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 GeneticVariation disease LHGDN Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 16674562 2006
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 SusceptibilityMutation disease ORPHANET Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 16674562 2006
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 GeneticVariation disease BEFREE A study of PVRL1 mutations for non-syndromic cleft lip and/or palate among Taiwanese patients. 16497481 2006
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 Biomarker disease GENOMICS_ENGLAND Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188 2000
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.640 Biomarker disease HPO