Hypobetalipoproteinemia

Disease Term Disease ID Gene Symbol Classification References Source
Acanthocytosis With Hypobetalipoproteinemia C4551990 APOB Causal Pathogenic evidence from ClinVar 2563166, 7627691, 8468533, 9105560, 9191540, 9702952, 10388479, 11115503, 11238294, 12551903, 15797858, 16250003, 17570373, 18222178, 18325181, 20032471, 21059979, 21376320, 21868016, 21981844, 22095935, 22294733, 22855658, 23375686, 23936638, 24234650, 24507775, 25414277, 26415676, 27206935, 27206948, 27604308 ClinVar
Familial hypobetalipoproteinemia C1862596 APOB Causal Pathogenic evidence from ClinVar - ClinVar
NON RARE IN EUROPE: Familial hypobetalipoproteinemia 426 APOB Causal Pathogenic evidence from ClinVar - ClinVar
ANGPTL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
APOC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MTTP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYLIP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPC1L1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCSK9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hypobetalipoproteinemia, Familial, 2 C1857970 ANGPTL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DOCK7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -