TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Limb defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740404
Disease: Limb defects
Limb defects 		0.030 GeneticVariation group BEFREE Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects. 26891374 2016
CUI: C0740404
Disease: Limb defects
Limb defects 		0.030 GeneticVariation group BEFREE The p63 transcription factor, homolog to the p53 tumor suppressor gene, plays a crucial role in epidermal and limb development, as its mutations are associated to human congenital syndromes characterized by skin, craniofacial and limb defects. 25911675 2015
CUI: C0740404
Disease: Limb defects
Limb defects 		0.030 GeneticVariation group BEFREE Mutations in the transcription factor p63 have been linked to several syndromes characterized by ectodermal, orofacial, and limb defects. 19793345 2011