Genopathy
Gene-Disorder Association · Article
Gene
LOC125467768
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chrX:99657381-99658580
Disorder
Developmental And Epileptic Encephalopathy 9
First reported 2011
Supporting publications 5
Key publication · gene–disorder Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.Human mutation · 2011
Key publication · disorder A new familial form of convulsive disorder and mental retardation limited to females.The Journal of pediatrics · 1971
Manually curated
Association Review

In brief

The association between LOC125467768 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chrX:99657381-99658580) and Developmental And Epileptic Encephalopathy 9 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 128
Symptoms 59
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
LOC125467768

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 9

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

36 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

128 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

11 references

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

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