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GENE - TERM ANNOTATION REPORT

RGD ID: 736766
Species: Mus musculus
RGD Object: Gene
Symbol: Pitx3
Name: paired-like homeodomain transcription factor 3
Acc ID: DOID:0110266
Term: cataract 9 multiple types
Definition: A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26867756 "DO" "DO", https://www.omim.org/entry/604219 "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)
Pitx3 ISOPITX3 (Homo sapiens)737764RGDDNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) 
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