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Disease Ontology Term: Charcot-Marie-Tooth disease type 2D

DO ID
DOID:0110164
Description
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS).
Synonyms
autosomal dominant Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease neuronal type 2D, Charcot-Marie-Tooth neuropathy type 2D, CMT2D
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Annotations

Manually Curated 6 entries for 1 gene

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GeneDisease Ontology TermQualifierEvidenceSourceAssigned OnReference
GRS1Charcot-Marie-Tooth disease type 2DISS with GARS1SGD2018-04-25Chien CI, et al. (2014) PMID:24743154
GRS1Charcot-Marie-Tooth disease type 2DIGI with GARS1SGD2018-04-25Chien CI, et al. (2014) PMID:24743154
GRS1Charcot-Marie-Tooth disease type 2DISS with GARS1SGD2020-06-04Griffin LB, et al. (2014) PMID:25168514
GRS1Charcot-Marie-Tooth disease type 2DIGI with GARS1SGD2020-06-04Griffin LB, et al. (2014) PMID:25168514
GRS1Charcot-Marie-Tooth disease type 2DIGI with GARS1SGD2023-04-26Meyer AP, et al. (2022) PMID:35332613
GRS1Charcot-Marie-Tooth disease type 2DISS with GARS1SGD2023-04-26Meyer AP, et al. (2022) PMID:35332613
Showing 1 to 6 of 6 entries

High-throughput 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Computational 0 entries for 0 genes

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Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference
genetic disease (0)