Send us a Message



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

GENE - TERM ANNOTATION REPORT

RGD ID: 12524710
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Gla
Name: galactosidase alpha
Acc ID: DOID:9000020
Term: Fabry Disease, Cardiac Variant
Definition: A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008
Definition Source(s): MESH:C567062
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)
Gla ISOGLA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fabry disease, cardiac variantPMID:10208848 PMID:105759 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:1315715 PMID:15702404 PMID:16773563 PMID:17532296 PMID:17555407 PMID:1846223 PMID:19287194 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:2171331 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:24980630 PMID:25382311 PMID:25611685 PMID:25741868 PMID:26869469 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27585509 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:28728877 PMID:29204651 PMID:29215092 PMID:29875425 PMID:30380558 PMID:30386727 PMID:30662066 PMID:30731207 PMID:30804731 PMID:30890379 PMID:31028938 PMID:31200018 PMID:31519519 PMID:31798221 PMID:32099817 PMID:32246049 PMID:35743592 PMID:36013057 PMID:7596372 PMID:8738659 PMID:9100224 PMID:9395081 PMID:9883849
Go Back to source page   Continue to Ontology report