(Q2868788)

English

spinocerebellar ataxia type 6

Human disease

SCA6
Spinocerebellar Ataxia type 6
SPINOCEREBELLAR ATAXIA 6; SCA6
Spinocerebellar ataxia 6

In more languages

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

spinocerebellar ataxia

1 reference

15 May 2019

autosomal dominant cerebellar ataxia type III

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

3 references

13 August 2019

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000141837/MONDO_0008457

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

C142838

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050956

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0050956

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

1 reference

28 August 2019

1 reference

imported from Wikimedia project

English Wikipedia

eMedicine ID

1153370

1 reference

imported from Wikimedia project

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

28 August 2019

Genetics Home Reference Conditions ID

spinocerebellar-ataxia-type-6

0 references

ICD-10

G11.2

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

Medical Dictionary for Regulatory Activities ID

10008025

1 reference

reference URL

https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx

based on heuristic

inferred by common ICD-10 mappings on Wikidata and on source

Microsoft Academic ID

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

3 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Spinocerebellar_ataxia_type_6&oldid=951098568

UMLS CUI

C0752124

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

Spinocerebellar ataxia type 6

0 references

(Q2868788)

spinocerebellar ataxia type 6

Statements

Identifiers

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