Genopathy
Gene-Disorder Association · Article
Gene
LOC126860124
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr7:100403701-100404900
Disorder
Capillary Malformation-Arteriovenous Malformation 2
First reported 2017
Supporting publications 7
Key publication · gene–disorder Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.Circulation · 2017
Key publication · disorder [Pathogenesis and genetics of vascular anomalies].Annales de chirurgie plastique et esthetique · 2006
Manually curated
Association Review

In brief

The association between LOC126860124 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr7:100403701-100404900) and Capillary Malformation-Arteriovenous Malformation 2 is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 21
Symptoms 10
Compounds 0
Trials 0
Publications 7
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
LOC126860124

The gene

1 source summary

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

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04
Capillary Malformation-Arteriovenous Malformation 2

The disorder

7 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

3 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

21 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

7 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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