Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 69080
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nfix
Name: nuclear factor I X
Acc ID: DOID:0050858
Term: Marshall-Smith syndrome
Definition: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1
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:691617240710OMIM  
 ISORGD:691618554872ClinVarClinVar Annotator: match by OMIM:602535

PMID:25741868
 ISORGD:691618554872ClinVarClinVar Annotator: match by term: Marshall-Smith syndrome

 
 ISORGD:691618554872ClinVarClinVar Annotator: match by term: Marshall-Smith syndrome

PMID:20673863, PMID:25118028, PMID:28492532
 ISORGD:691618554872ClinVarClinVar Annotator: match by term: Marshall-Smith syndrome

PMID:25741868, PMID:26200704
 ISORGD:691618554872ClinVarClinVar Annotator: match by term: Marshall-Smith syndrome

PMID:28492532
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.