| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An decreased concentration of cholesterol in the blood. (Human Phenotype Ontology, HP_0003146) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0003146 |
| Similar Terms | |
| Downloads & Tools |
6 genes associated with the hypocholesterolemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| CCT5 | chaperonin containing TCP1, subunit 5 (epsilon) |
| DHCR7 | 7-dehydrocholesterol reductase |
| HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| PEX12 | peroxisomal biogenesis factor 12 |
| PMM2 | phosphomannomutase 2 |
| SAR1B | secretion associated, Ras related GTPase 1B |
