Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 SusceptibilityMutation disease ORPHANET This study aimed to confirm the contribution of IRF6 to cleft lip with or without palate risk in additional Asian populations. 17438386 2007
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 Biomarker disease BEFREE We identified several regions associated with subtype differentiation: cleft type differences in 8q24 (p = 1.00 × 10<sup>-4</sup> ), laterality differences in IRF6, a gene previously implicated with wound healing (p = 2.166 × 10<sup>-4</sup> ), sex differences and side of unilateral CL differences in FGFR2 (p = 3.00 × 10<sup>-4</sup> ; p = 6.00 × 10<sup>-4</sup> ), and sex differences in VAX1 (p < 1.00 × 10<sup>-4</sup> ) among others. 28762674 2017
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 GeneticVariation disease BEFREE Van der Woude syndrome (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and cleft lip and/or cleft palate. 12920575 2003
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 GeneticVariation disease BEFREE Our independent study group confirms that the IRF6 locus is associated with nonsyndromic cleft lip with or without palate. 16132054 2005
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 GeneticVariation disease BEFREE Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). 20184620 2010
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 GeneticVariation disease BEFREE Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. 19115793 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 GeneticVariation disease BEFREE Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. 25441681 2015
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 Biomarker disease MGD
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 Biomarker disease CTD_human Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). 17041601 2006
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 SusceptibilityMutation disease ORPHANET A mutation of the p63 gene in non-syndromic cleft lip. 16740912 2006
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 GeneticVariation disease BEFREE A mutation of the p63 gene in non-syndromic cleft lip. 16740912 2006
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 GeneticVariation disease BEFREE Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. 19676058 2009
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 GeneticVariation disease LHGDN A mutation of the p63 gene in non-syndromic cleft lip. 16740912 2006
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 GeneticVariation disease GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174 2017
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 Biomarker disease CTD_human Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. 16688749 2006
Entrez Id: 8626
Gene Symbol: TP63
TP63 		0.720 SusceptibilityMutation disease ORPHANET Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. 21567929 2011
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 GeneticVariation disease LHGDN MSX1 polymorphism associated with risk of oral cleft in Korea: evidence from case-parent trio and case-control studies. 17326252 2007
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 GeneticVariation disease BEFREE MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. 16868654 2006
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 Biomarker disease BEFREE With likelihood ratio test analysis, "cleft lip only" showed association with MSX1 (p = 0.04) and "cleft palate only" with TGFB3 (p = 0.02). 12651933 2003
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 GeneticVariation disease BEFREE The patients with non-syndromic cleft lip and/or palate were characterized by similar distribution of MSX1 genotypes and allele in comparison to subjects without oral clefts (P > 0.05). 23130753 2013
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 SusceptibilityMutation disease ORPHANET MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. 12807959 2003
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 GeneticVariation disease BEFREE MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. 12807959 2003
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 Biomarker disease BEFREE Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls. 12733956 2003