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GENE - TERM ANNOTATION REPORT

RGD ID: 13907463
Species: Sus scrofa
RGD Object: Gene
Symbol: PAX6
Name: paired box 6
Acc ID: DOID:0080610
Term: anterior segment dysgenesis 5
Definition: An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27839872 "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 ISOPAX6 (Homo sapiens)7240710OMIM  
PAX6 ISOPAX6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPEPMID:10234503 PMID:10441571 PMID:12015275 PMID:1251879 PMID:12634864 PMID:12721955 PMID:12868034 PMID:14561779 PMID:15086958 PMID:15579687 PMID:16199547 PMID:1684738 PMID:17417613 PMID:18483559 PMID:18776953 PMID:1954207 PMID:20577777 PMID:22361317 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28488383 PMID:28492532 PMID:31161946 PMID:31700164 PMID:6988567 PMID:8364574 PMID:9727514 PMID:9792406
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