Disease: Sitosterolemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking. 15054092 2004
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. 11452359 2001
dbSNP: rs137852993
rs137852993
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
CUI: C0342907
Disease:
Sitosterolemia 		0.700 GeneticVariation UNIPROT Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000