Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
0.310 GeneticVariation disease BEFREE To the best of our knowledge, the present study reported the case of the first Chinese patient with microcephaly‑capillary malformation (MIC‑CAP) syndrome caused by a novel compound heterozygous mutation in the STAMBP gene, which encodes STAM binding protein. 31638258 2019
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
0.310 Biomarker disease CTD_human Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 23542699 2013