Condition: Arthrogryposis, renal dysfunction, and cholestasis 1
rs139829189 in
VPS33B gene and
Arthrogryposis, renal dysfunction, and cholestasis 1
PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
PMID 20190753 2010 Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PMID 23918659 2013 Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
rs121434385 in
VPS33B-DT;VPS33B gene and
Arthrogryposis, renal dysfunction, and cholestasis 1
PMID 23918659 2013 Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
PMID 20190753 2010 Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
rs769333468 in
VPS33B;LOC105370970 gene and
Arthrogryposis, renal dysfunction, and cholestasis 1
PMID 19274792 2009 Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
PMID 24917129 2015 Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
PMID 21851503 2011 Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PMID 24782640 2014 ARC syndrome with high GGT cholestasis caused by VPS33B mutations.