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GENE - TERM ANNOTATION REPORT

RGD ID: 731724
Species: Homo sapiens
RGD Object: Gene
Symbol: PSEN1
Name: presenilin 1
Acc ID: DOID:0110455
Term: dilated cardiomyopathy 1U
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)
Definition Source(s): PMID:17186461 "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)
PSEN1 IAGP 7240710OMIM  
PSEN1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
PSEN1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:25741868 PMID:28492532
PSEN1 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) 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) 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) 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) 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) 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: Dilated cardiomyopathy 1U 
PSEN1 IAGP (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: Dilated cardiomyopathy 1UPMID:28492532
PSEN1 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)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:25741868
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:26467025 PMID:28492532
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:28350801 PMID:28492532
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:22503161 PMID:28492532
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:25741868 PMID:26467025 PMID:28492532
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:10327206 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24559647 PMID:25285942 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:28492532 PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:11524469 PMID:11710891 PMID:12119298 PMID:18797263 PMID:22312439 PMID:22475797 PMID:23114514 PMID:23383383 PMID:23885714 PMID:25333068 PMID:25741868 PMID:26214276 PMID:26467025 PMID:26756738 PMID:26888304 PMID:27073747 PMID:27312774 PMID:27614114 PMID:27930341 PMID:28492532 PMID:29091718 PMID:29874583 PMID:31536626 PMID:32032730
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:17186461 PMID:25741868 PMID:28492532
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:11524469 PMID:16033913 PMID:16669732 PMID:16923167 PMID:17854491 PMID:18667258 PMID:23861362 PMID:23990795 PMID:26159191 PMID:26242991 PMID:26467025 PMID:27329738 PMID:27930341 PMID:28492532 PMID:28554858 PMID:28985224 PMID:29590070 PMID:29970176 PMID:30412504 PMID:30924900 PMID:32087291 PMID:32468481 PMID:34102969 PMID:35365805 PMID:36133075
PSEN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1UPMID:10643802 PMID:12192622 PMID:15003276 PMID:16033913 PMID:16216949 PMID:16952411 PMID:18350357 PMID:18525293 PMID:19111578 PMID:19659892 PMID:20194882 PMID:21959359 PMID:22810102 PMID:22906081 PMID:23861362 PMID:23990795 PMID:25333068 PMID:25741868 PMID:25937274 PMID:26166206 PMID:26467025 PMID:27312774 PMID:27357204 PMID:27535542 PMID:27644130 PMID:27930341 PMID:28492532 PMID:8773614 PMID:9384602 PMID:9851443 PMID:9851450 PMID:9915968
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