Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

RGD ID: 38601292
Species: Homo sapiens
RGD Object: Gene
Symbol: LOC107982234
Name: WT1/WT1-AS bi-directional promoter region
Acc ID: DOID:0080383
Term: nephrotic syndrome type 4
Definition: A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9529364 "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)
LOC107982234 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:25741868 PMID:28492532 PMID:38054408
LOC107982234 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:25741868 PMID:26467025 PMID:28492532
LOC107982234 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:25741868 PMID:28492532
LOC107982234 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:28492532
LOC107982234 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26725263 PMID:28492532
LOC107982234 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:25741868
LOC107982234 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 PMID:8621495
LOC107982234 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4 
LOC107982234 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome, type 4PMID:18644976 PMID:25145932 PMID:25741868 PMID:26090994 PMID:28492532
LOC107982234 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4PMID:23349334 PMID:25741868 PMID:28492532 PMID:36110220
Go Back to source page   Continue to Ontology report