Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q55998494)
Watch
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
In more languages
default for all languages
No label defined
No description defined
edit
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
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit