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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:0110250
Term: cataract 16 multiple types
Definition: A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11577372 "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: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple typesPMID:11013455 PMID:11577372 PMID:1560021 PMID:16483541 PMID:16505043 PMID:16793013 PMID:16877416 PMID:17116488 PMID:19282282 PMID:19461931 PMID:20141356 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
Cryab IAGP 13592920MouseDOOMIM:613763 
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