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GENE - TERM ANNOTATION REPORT

RGD ID: 620546
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Syne1
Name: spectrin repeat containing nuclear envelope protein 1
Acc ID: DOID:0070249
Term: autosomal dominant Emery-Dreifuss muscular dystrophy 4
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17761684 "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)
Syne1 ISOSYNE1 (Homo sapiens)7240710OMIM  
Syne1 ISOSYNE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominantPMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 PMID:21572417 PMID:21701589 PMID:22162184 PMID:22287014 PMID:23352163 PMID:23959263 PMID:24123366 PMID:24123876 PMID:24319099 PMID:24388756 PMID:24892279 PMID:25133958 PMID:25214167 PMID:25401298 PMID:25741868 PMID:25976027 PMID:26302956 PMID:26350515 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27060904 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:27378695 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28492532 PMID:28750076 PMID:29482223 PMID:29625556 PMID:29892087 PMID:29961767 PMID:30029642 PMID:30119932 PMID:30275942 PMID:30487145 PMID:30564623 PMID:30610203 PMID:30993396 PMID:31103315 PMID:31127727 PMID:31230720 PMID:3169216 PMID:31692161 PMID:32038460 PMID:32816195 PMID:32934002 PMID:33397523 PMID:34234304 PMID:35304488 PMID:9536098
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