Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GeneticVariation disease BEFREE Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. 29907094 2018
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease BEFREE Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop an ichthyotic phenotype. 29409756 2018
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease BEFREE Studies of Arthrogryposis, Renal dysfunction, and Cholestasis (ARC) syndrome identified the first proteins essential to α-granule biogenesis: VPS33B and VPS16B. 28277061 2017
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease BEFREE These include GATA1, VPS33B, or VIPAS39 in the arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and now GFI1B. 26971401 2016
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GeneticVariation disease BEFREE Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39. 24917129 2015
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease BEFREE Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is caused by deficiencies in the trafficking proteins VPS33B or VIPAR, and is associated with a bleeding diathesis and a marked reduction in platelet α-granules. 25947942 2015
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 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
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GeneticVariation disease BEFREE Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. 24782640 2014
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GermlineCausalMutation disease ORPHANET Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. 25239142 2014
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GeneticVariation disease BEFREE Characterization of platelets from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome containing mutations in C14orf133 encoding VPS16B revealed pale-appearing platelets in blood films and electron microscopy revealed a complete absence of α-granules, whereas δ-granules were observed. 23002115 2012
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 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
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 GeneticVariation disease BEFREE Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease CTD_human Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease MGD
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 GeneticVariation disease BEFREE Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. 26808426 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease GENOMICS_ENGLAND Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. 26808426 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 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
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease HPO
CUI: C3150672
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
CUI: C3150672
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. 20190753 2010
CUI: C3150672
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 		0.400 GeneticVariation disease CLINVAR
CUI: C3150672
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 		0.400 CausalMutation disease CLINVAR