Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 620755
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smn1
Name: survival of motor neuron 1, telomeric
Acc ID: DOID:0050529
Term: adult spinal muscular atrophy
Definition: A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Smn1 ISOSMN1 (Homo sapiens)7240710OMIM  
Smn1 ISOSMN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Smn1 ISOSMN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinal muscular atrophy, type IVPMID:17576681 PMID:21542063 PMID:24844453 PMID:25741868 PMID:26467025 PMID:27425821 PMID:28492532 PMID:31213135 PMID:9536098
Go Back to source page   Continue to Ontology report