Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
0.500 Biomarker disease CLINGEN Moreover, in 8 families with a homozygous mutation in an arthrogryposis-associated gene, we identified a second locus with either a homozygous or compound heterozygous variant in a candidate gene (myosin binding protein C, fast type [MYBPC2] and vacuolar protein sorting 8 [VPS8], 2 families, 4.2%) or in another disease-associated genes (6 families, 12.5%), indicating a potential mutational burden contributing to disease expression. 26752647 2016
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
0.500 Biomarker disease GENOMICS_ENGLAND The N-terminal domains of Vps3 and Vps8 are critical for localization and function of the CORVET tethering complex on endosomes. 23840658 2013
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
0.500 Biomarker disease CLINGEN The N-terminal domains of Vps3 and Vps8 are critical for localization and function of the CORVET tethering complex on endosomes. 23840658 2013
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
0.500 Biomarker disease CLINGEN A novel RING finger protein, Vps8p, functionally interacts with the small GTPase, Vps21p, to facilitate soluble vacuolar protein localization. 8969229 1996