Disease: Sitosterolemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease CLINVAR
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 Biomarker disease CTD_human We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. 11099417 2000
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia. 11099417 2000
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 Biomarker disease CTD_human We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients. 11138003 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients. 11138003 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GermlineCausalMutation disease ORPHANET We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients. 11138003 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Mutations in two tandem ABC genes, ABCG5 and ABCG8, encoding sterolin-1 and -2, respectively, are now known to be mutant in sitosterolemia. 11264985 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT Recently, we reported that a novel member of the ABC-transporter family, named "sterolin-1" and encoded by ABCG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutations in sterolin-1 could be identified. 11452359 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. 11668628 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. 11668628 2001
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Interestingly, mutation of ABCG5 and or ABCG8 genes in man causes sitosterolemia, a rare genetic disease characterized by massive absorption of plant sterols and premature arteriosclerosis. 12911117 2003
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease UNIPROT We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface. 15054092 2004
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia. 15375183 2004
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. 16029460 2005
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. 16507104 2006
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 Biomarker disease GENOMICS_ENGLAND The mechanism of ABCG5/ABCG8 in biliary cholesterol secretion in mice. 16741293 2006
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 CausalMutation disease CLINVAR Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols. 17228349 2007
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. 17785700 2007
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE We describe a novel nonsense mutation in exon 10 of the ABCG5 gene in a 10-year-old girl showing clinical and biochemical features of sitosterolaemia. 17976197 2007
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 CausalMutation disease CLINVAR Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. 17976197 2007
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE The gene(s) causing sitosterolaemia was mapped to the STSL locus on human chromosome 2p21, and mutations in either of the two genes that comprise this locus, ABCG5 or ABCG8, cause this disease. 18441155 2008
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation disease BEFREE The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia. 19111681 2009
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 CausalMutation disease CLINVAR Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases. 19111681 2009
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 Biomarker disease BEFREE Cholestyramine is essential in the treatment of sitosterolemia (ABCG5/8 deficiency). 20034695 2010