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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:12270
Term: coloboma
Definition: An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Coloboma "DO" "DO", http://ghr.nlm.nih.gov/condition/coloboma "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 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ColobomaPMID:10234503 PMID:12634864 PMID:18483559 PMID:22692063 PMID:25741868 PMID:26661695 PMID:28321846 PMID:28492532
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:25741868
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:25741868 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:34415986
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:11929848 PMID:26130484
PAX6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:31700164
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:25741868 PMID:31700164
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:1251879 PMID:14561779 PMID:1684738 PMID:1954207 PMID:25741868 PMID:31700164 PMID:6988567
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:12721955
PAX6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coloboma, ocular, autosomal dominantPMID:15846561 PMID:17406642 PMID:19876904 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:34415986
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