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GENE - TERM ANNOTATION REPORT

RGD ID: 68954
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wfs1
Name: wolframin ER transmembrane glycoprotein
Acc ID: DOID:0080584
Term: autosomal dominant Wolfram syndrome
Definition: A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18544103 "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)
Wfs1 ISOWFS1 (Homo sapiens)7240710OMIM  
Wfs1 ISOWFS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Wfs1 ISOWFS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominantPMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:35206658 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 PMID:9771706 PMID:9817917 PMID:9856492
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