Genopathy
Gene-Disorder Association · Article
Gene
ADAR
Adenosine Deaminase RNA Specific
Disorder
Symmetrical Dyschromatosis Of Extremities
First reported 2003
Supporting publications 38
Key publication · gene–disorder Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.American journal of human genetics · 2003
Key publication · disorder Spectrum of reticulate flexural and acral pigmentary disorders in northern India.The Journal of dermatology · 1994
Manually curated
Association Review

In brief

The association between ADAR (Adenosine Deaminase RNA Specific) and Symmetrical Dyschromatosis Of Extremities is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 1,397
Symptoms 0
Compounds 0
Trials 0
Publications 38
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ADAR

The gene

1 source summary

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

Request access
04
Symmetrical Dyschromatosis Of Extremities

The disorder

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

1,397 clinical variants

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

Request access
06
Literature

Reading

38 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access