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GENE - TERM ANNOTATION REPORT

RGD ID: 736650
Species: Homo sapiens
RGD Object: Gene
Symbol: CRYBA1
Name: crystallin beta A1
Acc ID: DOID:0111253
Term: neurofibromatosis 1
Definition: A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/35698197/ "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)
CRYBA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurofibromatosis, type 1PMID:10712197 PMID:23913538 PMID:28492532
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