(Q28134983)

English

Distal hereditary motor neuropathy type V

human disease

dHMN5
Distal spinal muscular atrophy type 5
Distal HMN V

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Statements

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Distal hereditary motor neuropathies

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genetic association

REEP1

1 reference

stated in

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

GARS1

2 references

stated in

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000106105/MONDO_0015353

based on heuristic

inferred from an Open Targets association score over 0.7

BSCL2

1 reference

stated in

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Identifiers

ICD-10-CM

G12.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0015353

Microsoft Academic ID

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

Distal hereditary motor neuropathy type V

0 references

Sitelinks

Wikipedia(1 entry)

enwiki Distal hereditary motor neuropathy type V

(Q28134983)

Distal hereditary motor neuropathy type V

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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