CKAP4, cytoskeleton associated protein 4, 10970

N. diseases: 332; N. variants: 4
Disease: Claw hand ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221373
Disease: Claw hand
Claw hand 		0.020 GeneticVariation disease BEFREE Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. 20808887 2010
CUI: C0221373
Disease: Claw hand
Claw hand 		0.020 Biomarker disease BEFREE Using a set of p63 deletion mutants, we have identified a region and two critical lysine residues of p63, associated to human Split-Hand and Foot Malformation-4 (SHFM-4) syndrome, which are involved in the mechanism of Itch-mediated p63 degradation. 16861923 2006