Genopathy
Gene-Disorder Association · Article
Gene
FHIT
Fragile Histidine Triad Diadenosine Triphosphatase
Disorder
Megacolon
First reported 1950
Key publication · disorder Congenital megacolon of a man 54 years of age: report of case.Proceedings of the staff meetings. Mayo Clinic · 1950
Association Review

In brief

The association between FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) and Megacolon is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
FHIT

The gene

1 source summary

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

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04
Megacolon

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
Provenance

References & sources

2 references

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

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