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GENE - TERM ANNOTATION REPORT

RGD ID: 3331
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pitx2
Name: paired-like homeodomain 2
Acc ID: DOID:14686
Term: Axenfeld-Rieger syndrome
Definition: An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Axenfeld_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome "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)
Pitx2 ISOPITX2 (Homo sapiens)12910558RGDDNA:point mutation:exon:p.W86C (c.840G>T) (human) 
Pitx2 ISOPITX2 (Homo sapiens)12910560RGDDNA:missense mutation: :p.G137V (g.20913G>T) (human) 
Pitx2 ISOPITX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Axenfeld-Rieger syndrome | ClinVar Annotator: match by term: Rieger anomalyPMID:25741868
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