STAMBP, STAM binding protein, 10617

N. diseases: 57; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.300 Biomarker group CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013