TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Cleft lip or lips ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.120 CausalMutation phenotype 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
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.120 GeneticVariation phenotype BEFREE Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) is a rare genetic disorder due to mutations in the TP63 gene. 19676058 2009
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.120 GeneticVariation phenotype BEFREE A mutation of the p63 gene in non-syndromic cleft lip. 16740912 2006