Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation 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
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation UNIPROT This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. 11668628

2001
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation UNIPROT We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients. 11138003

2001
Entrez Id: 64240
Gene Symbol: ABCG5
ABCG5
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		0.800 GeneticVariation 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