TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Deformity of limb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.010 GeneticVariation group BEFREE Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. 12037717 2002