NECTIN4, nectin cell adhesion molecule 4, 81607

N. diseases: 77; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
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
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
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
0.730 Biomarker disease CTD_human
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
0.730 CausalMutation disease CLINVAR
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.130 GeneticVariation disease BEFREE A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. 29430627 2018
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.130 Biomarker disease BEFREE In particular, nectin-1 mutations cause cleft lip/palate ED (CLPED1; OMIM#225060), whereas defective nectin-4 is associated with ED-syndactyly syndrome (EDSS1; OMIM#613573). 24577405 2014
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.130 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: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.130 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Nectin-4 was overexpressed at all stages of metastasis and angiogenesis, thus appearing to play a major role in tumor relapse through the PI3K-Akt-NFκβ pathway. 31617074 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE In addition, Nectin-4 represents a potential target in TNBC, and its role in molecular defined breast cancer subtype should be investigated in larger patient cohorts. 31572728 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Our present data unveiled that Nectin-4 played an important role in tumor biology and could serve as a useful prognostic predictor of human EC. 31043861 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We also assessed the relation between the expression level of NECTIN4 and the clinicopathological features of PTC in The Cancer Genome Atlas database, and results showed that upregulated NECTIN4 is associated with lymph node metastasis (<i>P</i><0.001) and tumor size (<i>P</i>=0.017). 31114323 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE In addition, Nectin-4 represents a potential target in TNBC, and its role in molecular defined breast cancer subtype should be investigated in larger patient cohorts. 31572728 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The soluble nectin-4 ecto-domain promotes breast cancer induced angiogenesis via endothelial Integrin-β4. 30056265 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Expression of Nectin-4 was closely associated with differentiation (P=0.004), primary tumor (P=0.001), lymph node metastasis (P<0.001) and tumor-node-metastasis (TNM) stage (P<0.001). 29805618 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 Biomarker disease BEFREE The soluble nectin-4 ecto-domain promotes breast cancer induced angiogenesis via endothelial Integrin-β4. 30056265 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE We analysed nectin-4/PVRL4 mRNA expression in 5673 invasive breast cancers and searched for correlations with clinicopathological features including metastasis-free survival (MFS). 27998973 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The current study provides clear evidence that Nectin-4 is a BCSC marker and is responsible for breast cancer metastasis. 28600142 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The results showed that MeV uptake was dynamin independent in the Vero.hPVRL4, Vero.hSLAM, and PVRL4-positive MCF7 breast cancer cell lines. 28250131 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The ADAM (<u>a</u><u>d</u>isintegrin <u>a</u>nd <u>m</u>etalloproteinase) proteases are involved in ectodomain cleavage of transmembrane proteins, and ADAM17 is known to cleave Nectin-4 in breast cancer. 28232483 2017