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

GENE - TERM ANNOTATION REPORT

CRRD ID: 8898706
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Tpm3
Name: tropomyosin 3
Acc ID: DOID:0110926
Term: nemaline myopathy 1
Definition: A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)
Definition Source(s): url:https://www.ncbi.nlm.nih.gov/pubmed/10619715 "DO", url:https://www.ncbi.nlm.nih.gov/pubmed/24095155 "DO", url:https://www.ncbi.nlm.nih.gov/pubmed/7704029 "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)
Tpm3 ISORGD:16054277240710OMIM  
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.