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GENE - TERM ANNOTATION REPORT

CRRD ID: 2414
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Cryab
Name: crystallin, alpha B
Acc ID: DOID:0080307
Term: myofibrillar myopathy
Definition: A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy, https://www.ncbi.nlm.nih.gov/pubmed/23995273
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:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar myopathy

PMID:24033266
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar myopathy

PMID:24033266, PMID:28492532
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant

 
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant

PMID:11013455, PMID:14610128, PMID:16483541, PMID:19181099, PMID:24033266, PMID:25741868, PMID:26265630, PMID:28492532
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant

PMID:1560021, PMID:16483541, PMID:16793013, PMID:17116488, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:26694549, PMID:26961874, PMID:28492532
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant

PMID:24033266, PMID:25741868, PMID:26467025
 ISORGD:7375188554872ClinVarClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant

PMID:24033266, PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.