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GENE - TERM ANNOTATION REPORT

RGD ID: 10400
Species: Mus musculus
RGD Object: Gene
Symbol: Cryab
Name: crystallin, alpha B
Acc ID: DOID:0080309
Term: fatal infantile hypertonic myofibrillar myopathy
Definition: A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23995273 "DO" "DO", https://www.omim.org/entry/613869 "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)
Cryab ISOCRYAB (Homo sapiens)7240710OMIM  
Cryab ISOCRYAB (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cryab ISOCRYAB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATEDPMID:11013455 PMID:1560021 PMID:16483541 PMID:16793013 PMID:17116488 PMID:19282282 PMID:20171888 PMID:21920752 PMID:22106715 PMID:2299599 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25208129 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26694549 PMID:26961874 PMID:27896284 PMID:28492532 PMID:28518168 PMID:28690483 PMID:28798025 PMID:28919577 PMID:32420686 PMID:34237397 PMID:34983005
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