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GENE - TERM ANNOTATION REPORT

RGD ID: 1305568
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pax2
Name: paired box 2
Acc ID: DOID:0090006
Term: renal coloboma syndrome
Definition: A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10466411 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7795640 "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)
Pax2 ISOPAX2 (Homo sapiens)7240710OMIM  
Pax2 ISOPAX2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pax2 ISOPAX2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndromePMID:10466411 PMID:10533062 PMID:11093271 PMID:11241473 PMID:11461952 PMID:15652857 PMID:16199547 PMID:17576681 PMID:20221250 PMID:20358591 PMID:21108633 PMID:21654726 PMID:22213154 PMID:22350371 PMID:23539225 PMID:24033266 PMID:24429398 PMID:24676634 PMID:25640679 PMID:25741868 PMID:25741913 PMID:2644560 PMID:27226968 PMID:27657687 PMID:28041643 PMID:28492532 PMID:28566479 PMID:29054766 PMID:29973660 PMID:30076350 PMID:30241513 PMID:30348286 PMID:30773290 PMID:31001663 PMID:31060108 PMID:31576025 PMID:31692565 PMID:32203253 PMID:32604935 PMID:32776440 PMID:33532864 PMID:3377002 PMID:34031707 PMID:34059960 PMID:34696790 PMID:34979951 PMID:35444690 PMID:36549658 PMID:7795640 PMID:8589702 PMID:8943028 PMID:9106533 PMID:9536098 PMID:9760197
Pax2 ISSPax2 (Mus musculus)13592920MouseDOOMIM:120330 
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