Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation disease BEFREE We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. 25913853 2015
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation 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
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation disease BEFREE PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. 17089422 2006
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 SusceptibilityMutation disease ORPHANET Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 16674562 2006
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 Biomarker disease BEFREE Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. 15479962 2004
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation disease BEFREE This constellation of clinical signs is unique, but some overlap can be recognized with other ectodermal dysplasia syndromes, for example ectrodactyly--ectodermal dysplasia--cleft lip/palate (EEC; OMIM 604292), limb--mammary syndrome (LMS; OMIM 603543), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285) and recessive cleft lip/palate--ectodermal dysplasia (CLPED1; OMIM 225060). 11159940 2001
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation disease BEFREE Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 11559849 2001
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
0.370 GeneticVariation disease BEFREE Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188 2000