Genopathy
Gene-Disorder Association · Article
Gene
CC2D1A
Coiled-Coil And C2 Domain Containing 1A
Disorder
Autosomal Recessive Intellectual Developmental Disorder
First reported 1977
Supporting publications 1
Key publication · disorder Two "new" autosomal recessive mental retardation syndromes observed among the Amish.Birth defects original article series · 1977
Association Review

In brief

The association between CC2D1A (Coiled-Coil And C2 Domain Containing 1A) and Autosomal Recessive Intellectual Developmental Disorder is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
CC2D1A

The gene

1 source summary

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

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04
Autosomal Recessive Intellectual Developmental Disorder

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

1 clinical variant

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

3 references

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

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