Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.080 GeneticVariation disease BEFREE 5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate. 24460828 2014
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.330 GeneticVariation disease BEFREE Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. 15831593 2006
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 AlteredExpression disease BEFREE TGFbeta isoforms and decorin gene expression are modified in fibroblasts obtained from non-syndromic cleft lip and palate subjects. 10598907 1999
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
0.100 GeneticVariation disease BEFREE Transforming growth factor-alpha (TGFA) was the first gene suggested to be associated with nonsyndromic cleft lip, cleft palate, or both (CL/ P). 15222785 2004
Entrez Id: 25859
Gene Symbol: PART1
PART1
0.040 Biomarker disease BEFREE Part 1. Understanding the embryology and genetics of cleft lip and palate. 15806447 2005
Entrez Id: 875
Gene Symbol: CBS
CBS
0.020 GeneticVariation disease BEFREE Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate. 16007597 2005
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
0.010 GeneticVariation disease BEFREE Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate. 16007597 2005
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.040 Biomarker disease BEFREE CHD7 gene and non-syndromic cleft lip and palate. 16763960 2006
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: 3664
Gene Symbol: IRF6
IRF6
0.400 Biomarker disease BEFREE IRF6 has been shown to be an important contributor to cleft lip and palate, but the functional variant leading to the defect has not yet been defined. 18218836 2008
Entrez Id: 7341
Gene Symbol: SUMO1
SUMO1
0.050 Biomarker disease BEFREE Small ubiquitin-like modifier 1 (SUMO1) haploinsufficiency results in cleft lip and palate in animal models. 18983974 2008
Entrez Id: 10055
Gene Symbol: SAE1
SAE1
0.010 Biomarker disease BEFREE SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. 19022414 2009
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
0.050 AlteredExpression disease BEFREE Transforming Growth Factor beta 3 (TGFbeta(3)) resulted up-regulated in CLP fibroblasts and decreased in Dz-N fibroblasts. 19114084 2009
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.010 AlteredExpression disease BEFREE Osteopontin (SPP1) and other immune related genes were significantly higher expressed in palate tissue from patients with CLP compared to CP and immunostaining in palatal shelves against SPP1, chemokine receptor 4 (CXCR4) and serglycin (PRG1) in human embryonic craniofacial tissue were positive, supporting a role for these genes in palatal development. 19287188 2009
Entrez Id: 23133
Gene Symbol: PHF8
PHF8
0.070 Biomarker disease BEFREE PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. 19843542 2010
Entrez Id: 7341
Gene Symbol: SUMO1
SUMO1
0.050 Biomarker disease BEFREE Small ubiquitin-like modifier 1 (SUMO1) has been shown to be associated with cleft lip and palate in animal models. 20738159 2010
Entrez Id: 635
Gene Symbol: BHMT
BHMT
0.020 GeneticVariation disease BEFREE BHMT gene polymorphisms as risk factors for cleft lip and cleft palate in a Chinese population. 21565678 2011
Entrez Id: 170474
Gene Symbol: HFM
HFM
0.020 Biomarker disease BEFREE Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. 22750194 2010
Entrez Id: 170474
Gene Symbol: HFM
HFM
0.020 Biomarker disease BEFREE Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. 24816892 2014
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.100 Biomarker disease BEFREE Telomerase reverse transcriptase (TERT) and cleft lip and palate trans-membrane 1 like (CLPTM1L) genes located on chromosome 5p15.33 are known to influence the susceptibility to various cancers. 25339005 2014
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.400 Biomarker disease BEFREE Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. 26692521 2016
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.330 GeneticVariation disease BEFREE CDH1 mutations are known to be associated with non-syndromic cleft lip/palate, while PLS3 mutations are associated with osteoporosis. 27566442 2016
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.020 GeneticVariation disease BEFREE BMP2 and BMP4 variations and risk of non-syndromic cleft lip and palate. 27591802 2016
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
0.400 GeneticVariation disease BEFREE MSX1 gene polymorphisms in Mexican patients with non-syndromic cleft lip/palate. 27729116 2016
Entrez Id: 8100
Gene Symbol: IFT88
IFT88
0.010 Biomarker disease BEFREE Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. 28069795 2017