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GENE - TERM ANNOTATION REPORT

RGD ID: 737306
Species: Homo sapiens
RGD Object: Gene
Symbol: PRNP
Name: prion protein (Kanno blood group)
Acc ID: DOID:4249
Term: Gerstmann-Straussler-Scheinker syndrome
Definition: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome "DO" "DO", http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease "DO" "DO", http://www.cdc.gov/ncidod/dvrd/prions/ "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)
PRNP IAGP 7240710OMIM  
PRNP EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:10203975
PRNP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:25741868 PMID:28492532
PRNP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler type | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:25741868
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:11967261 PMID:12172394 PMID:15967879 PMID:16380907 PMID:1672296 PMID:1674033 PMID:17666888 PMID:19696976 PMID:20301407 PMID:2180366 PMID:2190844 PMID:22097954 PMID:23668481 PMID:2564168 PMID:2572450 PMID:25741868 PMID:2783132 PMID:28492532 PMID:29887139 PMID:7902971 PMID:8698234 PMID:9653185
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:10506086 PMID:10698707 PMID:19675240 PMID:2783132 PMID:7501157 PMID:9452375
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:1353341 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:1677164 PMID:1682813 PMID:1684089 PMID:16969862 PMID:18955686 PMID:1971924 PMID:19923577 PMID:2378641 PMID:25741868 PMID:2783132 PMID:28492532 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:10079068 PMID:12372829 PMID:1357663 PMID:1363809 PMID:1363810 PMID:16939293 PMID:20541558 PMID:25959220 PMID:2812321 PMID:28492532 PMID:7954833 PMID:8939199
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:10079068 PMID:10970892 PMID:1363810 PMID:14761942 PMID:16025285 PMID:19680558 PMID:25959220 PMID:26323476 PMID:28492532
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:10079068 PMID:10526198 PMID:11756597 PMID:14761942 PMID:20301407 PMID:21839748 PMID:21909425 PMID:22947063 PMID:24583440 PMID:25741868 PMID:26268049 PMID:26578040 PMID:26791950 PMID:28492532 PMID:29887139 PMID:7902693
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:7902972
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:14761942 PMID:14872044 PMID:17029785 PMID:17494694 PMID:19703264 PMID:20301407 PMID:20592908 PMID:21269331 PMID:22561193 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23527023 PMID:23555862 PMID:24838726 PMID:25482600 PMID:25741868 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 PMID:8461023
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Encephalopathy subacute spongiform Gerstmann-Straussler typePMID:12451207 PMID:16369046 PMID:19422533 PMID:19422537 PMID:20583301 PMID:21983261 PMID:22108575 PMID:23320809 PMID:25741868 PMID:25818675 PMID:26791950 PMID:28492532 PMID:8461023
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:11709001 PMID:25741868 PMID:28492532 PMID:29458424 PMID:32986314
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:10581485 PMID:10953183 PMID:15824374
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:17353478
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:18955686
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATEDPMID:8570627
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATEDPMID:10631141 PMID:21416485 PMID:24958194 PMID:27716661 PMID:28492532
PRNP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | ClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:19911184
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATEDPMID:11704923 PMID:19225789
PRNP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Gerstmann-Straussler-Scheinker syndromePMID:10790216 PMID:11568919 PMID:12590162 PMID:22965875 PMID:28492532
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