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GENE - TERM ANNOTATION REPORT

RGD ID: 736496
Species: Homo sapiens
RGD Object: Gene
Symbol: MAPT
Name: microtubule associated protein tau
Acc ID: DOID:14330
Term: Parkinson's disease
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Parkinson%27s_disease "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/26474316/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/ "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 IAGP 8158095RGDDNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) 
MAPT IAGP 8158096RGDDNA:SNPs, haplotypes: :multiple 
MAPT IAGP 8158106RGDDNA:SNPs:intron:g.38276T>A, g.87443G>A (rs242556, rs10514889) (human) 
MAPTsusceptibilityIAGP 8158107RGDDNA:SNP:intron: (rs8070723) (human) 
MAPT EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:19915575 PMID:20711177
MAPT IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Susceptibility to Parkinson's DiseasePMID:25741868 PMID:26467025 PMID:28492532
MAPT IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Susceptibility to Parkinson's DiseasePMID:25741868
MAPT IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Susceptibility to Parkinson's DiseasePMID: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:15489396 PMID:15831501 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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