Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 Biomarker disease CTD_human SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.900 Biomarker disease CTD_human Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. 18836445 2008
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 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 Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. 21567929 2011
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 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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4487
Gene Symbol: MSX1
MSX1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies. 25565750 2014
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: 5818
Gene Symbol: NECTIN1
NECTIN1 		0.640 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 		0.640 Biomarker disease GENOMICS_ENGLAND Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 10932188 2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.430 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		0.430 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.420 Biomarker disease CTD_human Contributions of PTCH gene variants to isolated cleft lip and palate. 16405370 2006
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		0.420 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.410 Biomarker disease CTD_human SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 x 10(-11); and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 x 10(-12)) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. 20436469 2010
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.410 Biomarker disease GENOMICS_ENGLAND Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. 10767004 2000
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.400 Biomarker disease CTD_human Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. 17963255 2007
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.390 Biomarker disease CTD_human Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. 16470725 2006
Entrez Id: 7341
Gene Symbol: SUMO1
SUMO1 		0.320 Biomarker disease CTD_human SUMO1 haploinsufficiency leads to cleft lip and palate. 16990542 2006
Entrez Id: 50945
Gene Symbol: TBX22
TBX22 		0.310 Biomarker disease GENOMICS_ENGLAND X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 22784330 2013
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1 		0.310 Biomarker disease CTD_human Folate pathway and nonsyndromic cleft lip and palate. 21254359 2011
Entrez Id: 7298
Gene Symbol: TYMS
TYMS 		0.310 Biomarker disease CTD_human Folate pathway and nonsyndromic cleft lip and palate. 21254359 2011