Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.900 CausalMutation CLINVAR

Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.450 CausalMutation CLINVAR Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 19903181

2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.440 CausalMutation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.110 CausalMutation CLINVAR

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A. 25590586

2015
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 GeneticVariation CLINVAR

Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 GeneticVariation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 81570
Gene Symbol: CLPB
CLPB
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 84295
Gene Symbol: PHF6
PHF6
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 CausalMutation CLINVAR

Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.100 GeneticVariation CLINVAR