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GENE - TERM ANNOTATION REPORT

RGD ID: 12190790
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: WT1
Name: WT1 transcription factor
Acc ID: DOID:0080379
Term: nephrotic syndrome type 2
Definition: A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10742096 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8606597 "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)
WT1 ISOWT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndromePMID:10094551 PMID:10470095 PMID:10505699 PMID:10505700 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12970737 PMID:1302008 PMID:1327525 PMID:1338906 PMID:15150775 PMID:15509792 PMID:16439601 PMID:1655284 PMID:1658787 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36980135 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189
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