Genopathy
Gene-Disorder Association · Article
Gene
LOC130062945
ATAC-STARR-Seq Lymphoblastoid Silent Region 9707
Disorder
Cerebral Creatine Deficiency Syndrome
First reported 1989
Supporting publications 16
Key publication · disorder [Pancreatic carcinoma. The evolution of therapeutic choices guided by progress in diagnostic technics].Minerva medica · 1989
Manually curated
Association Review

In brief

The association between LOC130062945 (ATAC-STARR-Seq Lymphoblastoid Silent Region 9707) and Cerebral Creatine Deficiency Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 129
Symptoms 0
Compounds 0
Trials 0
Publications 16
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
LOC130062945

The gene

1 source summary

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

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04
Cerebral Creatine Deficiency Syndrome

The disorder

2 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

129 clinical variants

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

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06
Literature

Reading

16 publications

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

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07
Provenance

References & sources

10 references

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

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