Genopathy
Gene-Disorder Association · Article
Gene
TFR2
Transferrin Receptor 2
Disorder
Hemochromatosis Type 2
First reported 2002
Supporting publications 7
Key publication · gene–disorder Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics.Blood cells, molecules & diseases · 2002
Key publication · disorder [Juvenile hemochromatosis in three sisters and one brother associated with consanguinity of the parents; anatomo-clinical and genetic study of the endocrino-hepato-myocardial syndrome].Journal de genetique humaine · 1952
Manually curated
Association Review

In brief

The association between TFR2 (Transferrin Receptor 2) and Hemochromatosis Type 2 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 8
Compounds 0
Trials 0
Publications 7
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TFR2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Hemochromatosis Type 2

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

7 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

10 references

Every source and publication cited across this dossier, as one numbered reference list.

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