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GENE - TERM ANNOTATION REPORT

RGD ID: 621728
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smarca4
Name: SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Acc ID: DOID:0070046
Term: Coffin-Siris syndrome 4
Definition: A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)
Definition Source(s): PMID:22426308 "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)
Smarca4 ISOSMARCA4 (Homo sapiens)7240710OMIM  
Smarca4 ISOSMARCA4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related conditionPMID:10601012 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24658004 PMID:24728327 PMID:25058500 PMID:25168959 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27479843 PMID:27701467 PMID:27760138 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28518168 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29338072 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31819260 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32461654 PMID:32686290 PMID:33020650 PMID:33057194 PMID:33461977 PMID:33558524 PMID:33680622 PMID:34593967 PMID:34813034 PMID:34906459 PMID:34930489 PMID:35047860 PMID:35468861 PMID:35796094 PMID:35904974 PMID:35982159 PMID:36474027 PMID:37460928 PMID:37500730 PMID:38136308 PMID:38177409 PMID:9536098
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