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GENE - TERM ANNOTATION REPORT

RGD ID: 69329
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mapt
Name: microtubule-associated protein tau
Acc ID: DOID:678
Term: progressive supranuclear palsy
Definition: A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy "DO" "DO", http://www.ninds.nih.gov/disorders/psp/psp.htm "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)
Mapt ISOMAPT (Homo sapiens)8158095RGDDNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) 
Mapt ISOMAPT (Homo sapiens)8158100RGDDNA:SNPs, haplotypes:: 
MaptonsetISOMAPT (Homo sapiens)8158099RGD  
Mapt ISOMAPT (Homo sapiens)7240710OMIM  
Mapt ISOMAPT (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12325083 PMID:19458322 PMID:21685912 PMID:25402454
Mapt ISOMAPT (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12473404 PMID:14595660 PMID:15489396 PMID:15831501 PMID:16157753 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22723997 PMID:2273997 PMID:25319522 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048
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