(Q18553453)

English

spinocerebellar ataxia with axonal neuropathy type 2

Human disease

ataxia with oculomotor apraxia type 2
SCAN 2
SCAN2
SCAR1
AOA2
Ataxia-oculomotor apraxia type 2
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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Statements

0 references

0 references

autosomal recessive cerebellar ataxia

1 reference

24 November 2020

0 references

autosomal recessive cerebellar ataxia due to a DNA repair defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.

SETX

3 references

stated in

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000107290/MONDO_0018996

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000107290/Orphanet_64753

based on heuristic

inferred from an Open Targets association score over 0.7

PNKP

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000039650/Orphanet_64753

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C165500

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050755

1 reference

24 November 2020

http://identifiers.org/doid/DOID:0050755

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_64753

0 references

Identifiers

1 reference

24 November 2020

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0018996

ICD-11 ID (Foundation)

0 references

0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0018996

(Q18553453)

spinocerebellar ataxia with axonal neuropathy type 2

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