HJV
HGNC:4887 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
1Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in HJV publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| hepatocellular carcinoma | — | 1 | 1 |
Linked variants
Variants normalized to HJV| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.H166R | p.H166R | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Asir | — | — | 1 |
Supporting publications
2 records- 2021Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review.Open access rheumatology : research and reviewsPubMed ↗
- 2017Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.European journal of medical geneticsPubMed ↗