Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83590
Gene Symbol: TMUB1
TMUB1
0.010 Biomarker group BEFREE Mutations in CHEVI subunits lead to arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, while defects in CORVET and, particularly, HOPS are associated with neurodegeneration, pigmentation disorders, liver malfunction and various forms of cancer. 31092635 2019