Disease Term Disease ID Gene Symbol Classification References Source
Hdl Deficiency, Type 2 C3711531 ABCA1 Causal Pathogenic evidence from ClinVar 10431236, 11476965 ClinVar
Hypoalphalipoproteinemia, Familial C1704429 ABCA1 Causal Pathogenic evidence from ClinVar 10431236, 10533863, 11086027, 11238261, 12009425, 12204794, 15158913, 15297675, 15722566, 16343503, 16429166, 22923419, 22959828, 24097981 ClinVar
APOA1 Causal Pathogenic evidence from ClinVar 8240372, 8282791, 27604308 ClinVar
Hypoalphalipoproteinemias C0473527 ABCA1 Causal Pathogenic evidence from ClinVar - ClinVar
Hypobetalipoproteinemias C0020597 APOB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24751931, 25335495 -