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HFE and cardiomyopathy are reported together in 1 article.
Gene
HFE
- HGNC
- HGNC:4886
15articles
15mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Cardiomyopathy
- HPO
- HP:0001638
618articles
618mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
PMID 28363629 | DOI 10.1016/j.ejmg.2017.03.011 · European journal of medical genetics · 2017 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HFE | “Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HJV | “Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.” | 0.98 | hgnc_dict_v1 |
| gene | HAMP | “Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes.” | 0.98 | hgnc_dict_v1 |