Genopathy
Gene-Disorder Association · Article
Gene
TRPM7
Transient Receptor Potential Cation Channel Subfamily M Member 7
Disorder
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
First reported 2010
Supporting publications 2
Key publication · gene–disorder TRPM7 is not associated with amyotrophic lateral sclerosis-parkinsonism dementia complex in the Kii peninsula of Japan.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2010
Key publication · disorder Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features.Brain : a journal of neurology · 1961
Manually curated
Association Review

In brief

The association between TRPM7 (Transient Receptor Potential Cation Channel Subfamily M Member 7) and Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis and a susceptibility locus.

Sources 4
Clinical variants 9
Symptoms 19
Compounds 0
Trials 0
Publications 2
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
TRPM7

The gene

1 source summary

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

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04
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1

The disorder

12 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

9 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

9 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

2 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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