Genopathy
Gene-Disorder Association · Article
Gene
SMARCAL1
SNF2 Related Chromatin Remodeling Annealing Helicase 1
Disorder
Schimke Immunoosseous Dysplasia
First reported 2002
Supporting publications 48
Key publication · gene–disorder Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.Nature genetics · 2002
Key publication · disorder Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.Birth defects original article series · 1974
Manually curated
Association Review

In brief

The association between SMARCAL1 (SNF2 Related Chromatin Remodeling Annealing Helicase 1) and Schimke Immunoosseous Dysplasia is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1,116
Symptoms 142
Compounds 0
Trials 0
Publications 48
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

5 sources

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

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03
SMARCAL1

The gene

1 source summary

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

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04
Schimke Immunoosseous Dysplasia

The disorder

14 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

104 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

1,116 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

48 publications

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

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09
Provenance

References & sources

16 references

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

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