Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.010 GeneticVariation 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