Genopathy
Gene-Disorder Association · Article
Gene
GDAP1
Ganglioside Induced Differentiation Associated Protein 1
Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2h
First reported 2000
Key publication · disorder Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.Human genetics · 2000
Manually curated
Association Review

In brief

The association between GDAP1 (Ganglioside Induced Differentiation Associated Protein 1) and Charcot-Marie-Tooth Disease, Axonal, Type 2h is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 24
Compounds 0
Trials 0
Publications 0
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
GDAP1

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease, Axonal, Type 2h

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

11 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

6 references

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

Request access