NECTIN4, nectin cell adhesion molecule 4, 81607

N. diseases: 77; N. variants: 6
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 Biomarker disease BEFREE Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related-4 (PVRL4) gene, encoding cell adhesion molecule nectin-4, have been identified as causal for EDSS1. 29265343 2018
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 GeneticVariation disease BEFREE Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin-4, encoded by the PVRL4 gene. 25529316 2015
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 GeneticVariation disease BEFREE The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs. 21346770 2011
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 GermlineCausalMutation disease ORPHANET The involvement of mutant nectin-4 in causing EDSS1 may open up interesting prospectives into the role of cell adhesion molecules in causing syndromic forms of EDs. 21346770 2011
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 GeneticVariation disease UNIPROT Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 20691405 2010
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 20691405 2010
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 GermlineCausalMutation disease ORPHANET Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 20691405 2010
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 Biomarker disease CTD_human
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.730 CausalMutation disease CLINVAR