Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

CRRD ID: 1344166
Species: Homo sapiens
CRRD Object: Gene
Symbol: OPA1
Name: OPA1 mitochondrial dynamin like GTPase
Acc ID: DOID:9002421
Term: Behr Syndrome
Definition: null
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)
 IAGP 7240710OMIM  
 IAGPRGD:110601098554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:25012220
 IAGPRGD:110601148554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:25146916
 IAGPRGD:110601168554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:25012220
 IAGPRGD:115971518554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:25741868
 IAGPRGD:85584618554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28812649, PMID:9490303, PMID:9917792
 IAGPRGD:85724548554872ClinVarClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES

PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868
Go Back to source page   Continue to Ontology report

NHLBI Logo

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