Hypobetalipoproteinemia

Disease Term Disease ID Gene Symbol Classification References Source
FAMILIAL HYPOBETALIPOPROTEINEMIA
C1862596
APOB Causal — Disgenet
PCSK9 Unknown — Disgenet
FAMILIAL HYPOBETALIPOPROTEINEMIA 1
MONDO:0014252
APOB Causal
10224159 12551903 13130124 1527480 15308601 1770316 23715323 26825690 27179706 2843815 9502790
ClinGen ClinVar GWAS catalog
FAMILIAL HYPOBETALIPOPROTEINEMIA 2
MONDO:0011505
ANGPTL3 Causal
11788823 12097324 20942659 22062970 22155345 22247256 22659251 24685482 25964512 28538111
ClinGen ClinVar GWAS catalog