Genopathy
Gene-Disorder Association · Article
Gene
MIP
Major Intrinsic Protein Of Lens Fiber
Disorder
Cataract
First reported 2000
Supporting publications 11
Key publication · gene–disorder Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.Nature genetics · 2000
Key publication · disorder Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.Confinia neurologica · 1950
Manually curated
Association Review

In brief

The association between MIP (Major Intrinsic Protein Of Lens Fiber) and Cataract is reported, with clinical genetic testing available.

Sources 1
Clinical variants 8
Symptoms 0
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
MIP

The gene

1 source summary

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

Request access
04
Cataract

The disorder

8 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

8 clinical variants

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

Request access
06
Literature

Reading

11 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access