Genopathy
Gene-Disorder Association · Article
Gene
LOC130066166
ATAC-STARR-Seq Lymphoblastoid Active Region 18108
Disorder
Developmental And Epileptic Encephalopathy 36
First reported 2000
Supporting publications 5
Key publication · gene–disorder Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)The Journal of clinical investigation · 2000
Key publication · disorder Synthesis and antiviral evaluation of carbocyclic analogues of 2-amino-6-substituted-purine 3'-deoxyribofuranosides.Journal of medicinal chemistry · 1987
Manually curated
Association Review

In brief

The association between LOC130066166 (ATAC-STARR-Seq Lymphoblastoid Active Region 18108) and Developmental And Epileptic Encephalopathy 36 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 63
Symptoms 154
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
LOC130066166

The gene

1 source summary

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

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04
Developmental And Epileptic Encephalopathy 36

The disorder

25 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

114 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

63 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

12 references

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

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