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GENE - TERM ANNOTATION REPORT

RGD ID: 18927147
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Mfsd8
Name: major facilitator superfamily domain containing 8
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
Mfsd8 ISOMFSD8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:19177532 PMID:25227500 PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 PMID:31006324 PMID:32037395 PMID:32581362
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