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spinocerebellar ataxia type 42
human disease
SCA42
Spinocerebellar Ataxia 42
Spinocerebellar Ataxia type 42
cerebellar ataxia type 42
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No label defined
No description defined
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014776
rare disease
0 references
class of disease
0 references
subclass of
autosomal dominant cerebellar ataxia type III
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014776
spinocerebellar ataxia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111742
genetic association
CACNA1G
3 references
stated in
UniProt
UniProt protein ID
O43497
retrieved
13 August 2019
stated in
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000006283/EFO_0009059
based on heuristic
inferred from an Open Targets association score over 0.7
NCI Thesaurus ID
C171269
mapping relation type
exact match
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_458803
0 references
http://purl.obolibrary.org/obo/DOID_0111742
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111742
http://identifiers.org/doid/DOID:0111742
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111742
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111742
Experimental Factor Ontology ID
0009059
1 reference
based on heuristic
inferred by common MONDO mappings on source and on Wikidata
ICD-10-CM
G11.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014776
Mondo ID
MONDO_0014776
0 references
OMIM ID
616795
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014776
Orphanet ID
458803
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014776
UMLS CUI
C4225205
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014776
UniProt disease ID
DI-04644
0 references
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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