ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Apolipoprotein A-I deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation phenotype ORPHANET Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828 2012
CUI: C0342898
Disease: Apolipoprotein A-I deficiency
Apolipoprotein A-I deficiency 		0.300 GermlineCausalMutation phenotype ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913 2004