Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE Previously, four VPS33B mutated cases were reported without arthrogryposis, or with less severe symptoms and longer lifespan, indicating the possibility of incomplete ARC phenotype of isolated hepatopathy. 31479177 2019
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE We report a case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. 28544027 2017
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome-associated mutations in VPS33B selectively disrupt recruitment to late endosomes by RILP or binding to its partner VIPAS39. 26463206 2015
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). 22753090 2012
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 Biomarker disease GENOMICS_ENGLAND Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. 18853461 2009
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently ascribed to mutation in VPS33B, whose product acts in intracellular trafficking. 16492441 2006
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 GeneticVariation disease BEFREE Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 15052268 2004
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
0.460 Biomarker disease HPO