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
0.370 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
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
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
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.370 GeneticVariation disease BEFREE PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. 17089422 2006
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.370 SusceptibilityMutation disease ORPHANET Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 16674562 2006
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
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
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
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
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.370 GeneticVariation disease BEFREE Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 11559849 2001
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.370 GeneticVariation disease BEFREE Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188 2000