TP63, tumor protein p63, 8626

N. diseases: 816; N. variants: 64
Disease: Congenital Hand Deformities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		0.310 GeneticVariation group BEFREE We report a Mexican boy with isolated ectrodactyly (split hand malformation) in whom a new mutation was identified in exon 3 of the TP63 gene. 15736220 2005
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		0.310 Biomarker group CTD_human p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. 11462173 2001