Genopathy
Gene-Disorder Association · Article
Gene
LOC130065509
ATAC-STARR-Seq Lymphoblastoid Active Region 17619
Disorder
Retinitis Pigmentosa 69
First reported 2014
Supporting publications 5
Key publication · gene–disorder Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.American journal of human genetics · 2014
Key publication · disorder Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.Proceedings of the National Academy of Sciences of the United States of America · 1972
Manually curated
Association Review

In brief

The association between LOC130065509 (ATAC-STARR-Seq Lymphoblastoid Active Region 17619) and Retinitis Pigmentosa 69 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 12
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
LOC130065509

The gene

1 source summary

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

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04
Retinitis Pigmentosa 69

The disorder

9 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

7 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

2 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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