Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.400 SusceptibilityMutation ORPHANET Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 17438386

2007
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.400 SusceptibilityMutation ORPHANET Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 12807959

2003
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.390 SusceptibilityMutation ORPHANET Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate. 21567929

2011
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.390 SusceptibilityMutation ORPHANET A mutation of the p63 gene in non-syndromic cleft lip. 16740912

2006
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.370 SusceptibilityMutation ORPHANET Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 16674562

2006
Entrez Id: 999
Gene Symbol: CDH1
CDH1
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.330 SusceptibilityMutation ORPHANET Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. 23197654

2013
Entrez Id: 652
Gene Symbol: BMP4
BMP4
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.320 SusceptibilityMutation ORPHANET Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. 22978696

2013
Entrez Id: 1739
Gene Symbol: DLG1
DLG1
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.300 SusceptibilityMutation ORPHANET Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate. 28926086

2018
Entrez Id: 9411
Gene Symbol: ARHGAP29
ARHGAP29
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.300 SusceptibilityMutation ORPHANET Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants. 27350171

2017
Entrez Id: 1748
Gene Symbol: DLX4
DLX4
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.300 GermlineCausalMutation ORPHANET DLX4 is associated with orofacial clefting and abnormal jaw development. 25954033

2015