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GENE - TERM ANNOTATION REPORT

RGD ID: 8808737
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Dnase1l1
Name: deoxyribonuclease 1 like 1
Acc ID: DOID:0050476
Term: Barth syndrome
Definition: A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Barth_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO" "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO" "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "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)
Dnase1l1 ISODNASE1L1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondriaPMID:10480214 PMID:11238270 PMID:11379875 PMID:11748843 PMID:11968085 PMID:14662265 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16684786 PMID:1719174 PMID:17576681 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:22410210 PMID:23409742 PMID:23660394 PMID:24033266 PMID:24365856 PMID:24962355 PMID:25652404 PMID:25741868 PMID:26471271 PMID:26845103 PMID:28492532 PMID:29334594 PMID:30831263 PMID:31333075 PMID:31559736 PMID:31568572 PMID:35384376 PMID:9345098 PMID:9384614 PMID:9536098
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