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episodic ataxia type 6
Human disease
EPISODIC ATAXIA, TYPE 6; EA6
EPISODIC ATAXIA, TYPE 6
EA6
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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_0012982
rare disease
0 references
class of disease
0 references
subclass of
episodic ataxia
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012982
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050994
genetic association
SLC1A3
5 references
stated in
UniProt
UniProt protein ID
P43003
retrieved
13 August 2019
stated in
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
stated in
ClinGen
retrieved
9 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/3bcae41b-3438-4e82-8f29-83cca7f142f0--2020-10-09T16:00:00
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3bcae41b-3438-4e82-8f29-83cca7f142f0-2020-10-09T160000.000Z
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000079215/MONDO_0012982
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050994
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050994
http://identifiers.org/doid/DOID:0050994
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_209967
0 references
Identifiers
MeSH descriptor ID
C567207
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012982
Disease Ontology ID
DOID:0050994
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0050994
ICD-10-CM
G11.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012982
Mondo ID
MONDO_0012982
0 references
OMIM ID
612656
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050994
Orphanet ID
209967
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012982
UMLS CUI
C2675211
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012982
UniProt disease ID
DI-00477
0 references
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Wikinews
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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