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(Q55998494)
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English
tuberous sclerosis 1
Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)
TUBEROUS SCLEROSIS 1
Tuberous Sclerosis type 1
Tuberose Sclerosis
Tuberous Sclerosis Complex
TSC1
TUBEROUS SCLEROSIS 1; TSC1
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No label defined
No description defined
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Statements
instance of
disease
0 references
subclass of
tuberous sclerosis
0 references
drug or therapy used for treatment
everolimus
1 reference
stated in
Drug Indications Extracted from FAERS
retrieved
2 October 2018
vigabatrin
1 reference
stated in
Drug Indications Extracted from FAERS
retrieved
2 October 2018
genetic association
TSC1
2 references
stated in
UniProt
UniProt protein ID
Q92574
retrieved
13 August 2019
stated in
ClinGen
retrieved
6 November 2019
reference URL
https://search.clinicalgenome.org/kb/gene-validity/8750
TSC2
1 reference
stated in
ClinGen
retrieved
6 November 2019
reference URL
https://search.clinicalgenome.org/kb/gene-validity/8749
NCI Thesaurus ID
C75122
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0008612
exact match
http://www.orpha.net/ORDO/Orphanet_805
0 references
Identifiers
KEGG ID
H00915
0 references
GARD rare disease ID
5380
0 references
Mondo ID
MONDO_0008612
0 references
OMIM ID
191100
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0008612
UMLS CUI
C1854465
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0008612
C0041341
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0008612
UniProt disease ID
DI-01106
0 references
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