Overview
- Term
- familial hypercholesterolemia
- HPO
- HP:0003124
- OMIM
- 143890
- In SaudiVarKB
- 46 articles, 46 mentions
Co-reported genes
Genes named in the same articles as familial hypercholesterolemia. Co-mention, not a proven association.
and 31 more
Variants in these articles
Variants reported in articles that mention familial hypercholesterolemia; the gene is shown only when the link was confirmed by dbSNP or LitVar2.
| Variant | Gene | Articles |
|---|---|---|
| p.W577C | - | 3 |
| c.1429G>A | - | 2 |
| c.1474G>A | - | 2 |
| c.2027delG | - | 2 |
| p.D477N | LDLR | 2 |
| p.D492N | LDLR | 2 |
| G894T | - | 1 |
| Q192R | PON1 | 1 |
| R496W | PCSK9 | 1 |
| c.1336C>T | - | 1 |
| c.1421C>G | - | 1 |
| c.1731G>T | LDLR | 1 |
| c.1783C>T | - | 1 |
| c.1800T>A | - | 1 |
| c.2027del | - | 1 |
| c.2416dup | - | 1 |
| c.2416dupG | - | 1 |
| c.335_336insCGAG | - | 1 |
| c.622G>A | - | 1 |
| c.666_670dup | - | 1 |
| c.9835A>G | - | 1 |
| p.Arg284Ter | - | 1 |
| p.Arg987Ter | - | 1 |
| p.Asn130Asp | - | 1 |
| p.Asp36Tyr | VKORC1 | 1 |
and 28 more
Saudi regions
| Region | Articles |
|---|---|
| Riyadh | 3 |
| Hail | 2 |
| Asir | 1 |
| Jazan | 1 |
| Jeddah | 1 |