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GENE - TERM ANNOTATION REPORT

RGD ID: 1550411
Species: Mus musculus
RGD Object: Gene
Symbol: Arv1
Name: ARV1 homolog, fatty acid homeostasis modulator
Acc ID: DOID:0080417
Term: early infantile epileptic encephalopathy 38
Definition: An early infantile epileptic encephalopathy that has_material_basis_in homozygous mutation in the ARV1 gene on chromosome 1q42. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25558065, https://www.ncbi.nlm.nih.gov/pubmed/27270415
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13491987240710OMIM  
 ISORGD:13491988554872ClinVarClinVar Annotator: match by OMIM:617020

PMID:27270415
 ISORGD:13491988554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38

PMID:11063737, PMID:12145310, PMID:18287539, PMID:19883648, PMID:20663892, PMID:21539707, PMID:22265715, PMID:25558065, PMID:25741868, PMID:26460143, PMID:26479315, PMID:27270415
 ISORGD:13491988554872ClinVarClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38

PMID:25558065, PMID:27270415
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.