Genopathy
Gene-Disorder Association · Article
Gene
LOC122152296
OCT4-NANOG HESC Enhancer GRCh37_chr1:216419825-216420431
Disorder
Retinitis Pigmentosa 39
First reported 2000
Supporting publications 5
Key publication · gene–disorder Identification of novel USH2A mutations: implications for the structure of USH2A protein.European journal of human genetics : EJHG · 2000
Key publication · disorder Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.Science (New York, N.Y.) · 1998
Manually curated
Association Review

In brief

The association between LOC122152296 (OCT4-NANOG HESC Enhancer GRCh37_chr1:216419825-216420431) and Retinitis Pigmentosa 39 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 42
Symptoms 13
Compounds 0
Trials 0
Publications 5
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
LOC122152296

The gene

1 source summary

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

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04
Retinitis Pigmentosa 39

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

42 clinical variants

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

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07
Literature

Reading

5 publications

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

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08
Provenance

References & sources

9 references

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

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