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tubular aggregate myopathy
Human disease
TAM1
Myopathy, Tubular Aggregate, type 1
MYOPATHY, TUBULAR AGGREGATE, 1
tubular aggregate myopathy 1
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
muscular disease
2 references
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0080089
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080089
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
23 November 2021
Disease Ontology ID
DOID:0080089
genetic association
ORAI1
4 references
stated in
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
stated in
ClinGen
retrieved
3 August 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a--2020-07-13T16:49:19
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb8d614e-e8ff-4f16-bba3-6fc35ea56e8a-2020-07-13T164919.164Z
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000276045/MONDO_0008051
based on heuristic
inferred from an Open Targets association score over 0.7
STIM1
4 references
stated in
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
stated in
ClinGen
retrieved
12 April 2021
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T173717.906Z
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9419adda-b3fb-4c2d-8562-6a0318260bbd-2021-04-01T160000.000Z
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000167323/MONDO_0008051
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_0080089
1 reference
stated in
Disease Ontology
retrieved
23 November 2021
Disease Ontology ID
DOID:0080089
http://identifiers.org/doid/DOID:0080089
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_2593
0 references
Identifiers
KEGG ID
H02258
0 references
Disease Ontology ID
DOID:0080089
1 reference
stated in
Disease Ontology
retrieved
23 November 2021
Disease Ontology ID
DOID:0080089
GARD rare disease ID
3884
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008051
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080089
ICD-10-CM
G71.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008051
Mondo ID
MONDO_0008051
0 references
OMIM ID
615883
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080089
160565
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080089
Orphanet ID
2593
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008051
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Wikinews
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
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