Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
0.020 GeneticVariation disease BEFREE Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. 20808887 2010
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
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