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GENE - TERM ANNOTATION REPORT

RGD ID: 1549987
Species: Mus musculus
RGD Object: Gene
Symbol: Wdr19
Name: WD repeat domain 19
Acc ID: DOID:0050576
Term: Senior-Loken syndrome
Definition: A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/322/senior-loken-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)
Wdr19 ISOWDR19 (Homo sapiens)11552600RGDDNA:missense mutations, frameshift mutations, snp:multiple (human) 
Wdr19 ISOWDR19 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndromePMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829
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