Genopathy
Gene-Disorder Association · Article
Gene
MITF
Melanocyte Inducing Transcription Factor
Disorder
Microphthalmia
First reported 1994
Supporting publications 57
Key publication · gene–disorder Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene.Molecular and cellular biology · 1994
Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950
Manually curated
Association Review

In brief

The association between MITF (Melanocyte Inducing Transcription Factor) and Microphthalmia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 57
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
MITF

The gene

1 source summary

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

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04
Microphthalmia

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
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

57 publications

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

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07
Provenance

References & sources

11 references

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

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