Hypobetalipoproteinemia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Familial hypobetalipoproteinemia | C1862596 | APOB | |
| Acanthocytosis With Hypobetalipoproteinemia | C4551990 | APOB | 9702952, 10388479, 27206948, 16250003, 11238294, 21868016, 9191540, 21059979, 22855658, 18325181, 20032471, 21376320, 23936638, 9105560, 25414277, 27206935, 11115503, 27604308, 22294733, 15797858, 24234650, 22095935, 2563166, 7627691, 23375686, 18222178, 26415676, 12551903, 8468533, 17570373, 24507775, 21981844 |
| Hypobetalipoproteinemia, Familial, 2 | C1857970 | ANGPTL3 | |
| DOCK7 | |||
| NON RARE IN EUROPE: Familial hypobetalipoproteinemia | 426 | MTTP | |
| PCSK9 | |||
| APOC3 | |||
| ANGPTL3 | |||
| MYLIP | |||
| NPC1L1 | |||
| APOB |