Genopathy
Gene-Disorder Association · Article
Gene
JAM2
Junctional Adhesion Molecule 2
Disorder
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
First reported 2015
Supporting publications 3
Key publication · disorder Fahr's disease in two siblings in a family: A case report.Experimental and therapeutic medicine · 2015
Manually curated
Association Review

In brief

The association between JAM2 (Junctional Adhesion Molecule 2) and Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 8
Symptoms 46
Compounds 0
Trials 0
Publications 3
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

4 sources

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

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03
JAM2

The gene

1 source summary

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

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04
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive

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

19 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

8 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

3 publications

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

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09
Provenance

References & sources

9 references

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

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