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GENE - TERM ANNOTATION REPORT

RGD ID: 733823
Species: Mus musculus
RGD Object: Gene
Symbol: Myh6
Name: myosin, heavy polypeptide 6, cardiac muscle, alpha
Acc ID: DOID:0110453
Term: dilated cardiomyopathy 1EE
Definition: A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15998695 "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)
Myh6 ISOMYH6 (Homo sapiens)7240710OMIM  
Myh6 ISOMYH6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Myh6 ISOMYH6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated cardiomyopathy 1EEPMID:11815426 PMID:15998695 PMID:16199547 PMID:17576681 PMID:20215591 PMID:20656787 PMID:21483645 PMID:21822268 PMID:22011241 PMID:22194935 PMID:22361390 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24082139 PMID:24119082 PMID:24120998 PMID:24123366 PMID:24503780 PMID:25163546 PMID:25351510 PMID:25741868 PMID:26085007 PMID:26220970 PMID:26272908 PMID:26458567 PMID:26656175 PMID:27194543 PMID:27483260 PMID:27532257 PMID:27788187 PMID:27789736 PMID:27930701 PMID:28082330 PMID:28087566 PMID:28088328 PMID:28255936 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28750076 PMID:28771489 PMID:28797094 PMID:28798025 PMID:28902392 PMID:28991257 PMID:29247119 PMID:29255176 PMID:29332214 PMID:29368431 PMID:29420653 PMID:29582157 PMID:29687901 PMID:29875424 PMID:29907873 PMID:29915097 PMID:30293987 PMID:30403391 PMID:30471092 PMID:30716529 PMID:30847666 PMID:30975432 PMID:31308319 PMID:31376648 PMID:31513939 PMID:31514951 PMID:31729605 PMID:31737537 PMID:31847883 PMID:31983221 PMID:32004434 PMID:32492895 PMID:32512245 PMID:32746448 PMID:32880476 PMID:32969603 PMID:33325730 PMID:33500567 PMID:34087240 PMID:34088380 PMID:34426522 PMID:34598319 PMID:34930662 PMID:35026164 PMID:35208637 PMID:35456442 PMID:36890431 PMID:9536098
Myh6 IAGP 13592920MouseDOOMIM:613252 
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