Genopathy
Gene-Disorder Association · Article
Gene
KIF1B
Kinesin Family Member 1B
Disorder
Charcot-Marie-Tooth Disease Type 2a1
First reported 2001
Supporting publications 3
Key publication · gene–disorder Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.Cell · 2001
Key publication · disorder Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.Genomics · 1993
Manually curated
Association Review

In brief

The association between KIF1B (Kinesin Family Member 1B) and Charcot-Marie-Tooth Disease Type 2a1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 101
Symptoms 0
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

2 sources

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

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03
KIF1B

The gene

1 source summary

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

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04
Charcot-Marie-Tooth Disease Type 2a1

The disorder

4 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

101 clinical variants

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

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

6 references

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

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