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GENE - TERM ANNOTATION REPORT

RGD ID: 737459
Species: Homo sapiens
RGD Object: Gene
Symbol: PAX6
Name: paired box 6
Acc ID: DOID:10629
Term: microphthalmia
Definition: An eye disease where one or both eyeballs are abnormally small. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Microphthalmia "DO" "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "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)
PAX6 IMP 8552240RGDhuman gene in a mouse model 
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:12868034 PMID:15086958 PMID:25741868 PMID:26604670 PMID:28492532 PMID:9727514
PAX6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:28492532
PAX6 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:25741868 PMID:28492532
PAX6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:25741868
PAX6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmia 
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MicrophthalmiaPMID:29178648
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:28492532 PMID:31161946
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anophthalmia - microphthalmiaPMID:16407227
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