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GENE - TERM ANNOTATION REPORT

RGD ID: 18926284
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tnnt1
Name: troponin T1, slow skeletal type
Acc ID: DOID:0110936
Term: nemaline myopathy 5A
Definition: A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10952871 "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)
Tnnt1 ISOTNNT1 (Homo sapiens)7240710OMIM  
Tnnt1 ISOTNNT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 genePMID:10952871 PMID:12732643 PMID:14315666 PMID:15665378 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301465 PMID:24033266 PMID:24689076 PMID:25430424 PMID:25712079 PMID:25741868 PMID:26296490 PMID:26467025 PMID:27429059 PMID:27790152 PMID:28492532 PMID:29178646 PMID:32994279 PMID:35510366 PMID:5908457 PMID:9536098
Tnnt1 ISOTNNT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nemaline Myopathy, Amish Type | ClinVar Annotator: match by term: Nemaline myopathy 5, Amish type | ClinVar Annotator: match by term: Nemaline myopathy, caused by mutation in the troponin t1 genePMID:10952871 PMID:12732643 PMID:15665378 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301465 PMID:24033266 PMID:24689076 PMID:25430424 PMID:25712079 PMID:25741868 PMID:26296490 PMID:26467025 PMID:27429059 PMID:27790152 PMID:28492532 PMID:29178646 PMID:32994279 PMID:9536098
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