Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GermlineCausalMutation ORPHANET Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828

2012
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GermlineCausalMutation ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004