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English
Luscan-Lumish syndrome
human disease
LLS
Sotos-like syndrome
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
disease
2 references
stated in
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
stated in
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
subclass of
genetic disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014791
Sotos syndrome
0 references
genetic association
SETD2
3 references
stated in
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
stated in
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000181555/MONDO_0014791
based on heuristic
inferred from an Open Targets association score over 0.7
Identifiers
KEGG ID
H02444
0 references
Mondo ID
MONDO_0014791
0 references
OMIM ID
616831
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014791
UMLS CUI
C4085873
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014791
UniProt disease ID
DI-04661
0 references
Sitelinks
Wikipedia
(2 entries)
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enwiki
Luscan-Lumish syndrome
fiwiki
Luscan–Lumishin oireyhtymä
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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