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GENE - TERM ANNOTATION REPORT

RGD ID: 1307748
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nsd1
Name: nuclear receptor binding SET domain protein 1
Acc ID: DOID:14748
Term: Sotos syndrome
Definition: Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Definition Source(s): MESH:D058495, http://en.wikipedia.org/wiki/Cerebral_gigantism
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

 
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:11896389, PMID:12676901
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:11896389, PMID:15580547, PMID:16329110
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:12464997, PMID:15942875
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:12525543
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:12676901, PMID:18414213
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:18414213
 ISORGD:13171218554872ClinVarClinVar Annotator: match by OMIM:117550

PMID:25741868
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: CHROMOSOME 5q35 DELETION SYNDROME

PMID:18414213, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:12464997, PMID:14571271, PMID:18001468, PMID:18414213, PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:16247291, PMID:18001468, PMID:18414213, PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:16247291, PMID:18414213, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:18414213, PMID:25741868
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:18414213, PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos Syndrome

PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12464997, PMID:14571271, PMID:15942875, PMID:16247291, PMID:18414213, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12464997, PMID:18414213, PMID:21196496, PMID:26690673, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12464997, PMID:18414213, PMID:28475857, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12807965, PMID:15942875, PMID:16247291, PMID:18414213, PMID:24412544, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12807965, PMID:15942875, PMID:18414213
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:12807965, PMID:16247291, PMID:18414213, PMID:22924495, PMID:25326635, PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:14517949, PMID:15742365, PMID:18414213, PMID:25741868, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:14571271, PMID:15942875, PMID:18414213, PMID:25741868, PMID:28475857, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:15742365, PMID:15942875, PMID:16247291, PMID:18414213, PMID:27604501, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:15942875, PMID:18414213, PMID:25741868
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:16247291, PMID:18414213, PMID:22924495, PMID:28492532
 ISORGD:13171218554872ClinVarClinVar Annotator: match by term: Sotos' syndrome

PMID:17565729, PMID:18414213, PMID:25326635, PMID:25741868
 ISORGD:13171219590145RGDDNA:mutations:multiple (human)

 
 ISORGD:131712111554173CTDCTD Direct Evidence: marker/mechanism

PMID:12807965, PMID:14517949, PMID:14571271, PMID:15452385, PMID:15580547, PMID:15640245, PMID:16188863, PMID:16232326, PMID:17561922, PMID:18001468, PMID:18505455, PMID:20101679, PMID:21972110
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.