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GENE - TERM ANNOTATION REPORT

RGD ID: 69477
Species: Homo sapiens
RGD Object: Gene
Symbol: GPHN
Name: gephyrin
Acc ID: DOID:0050572
Term: cone-rod dystrophy
Definition: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)
Definition Source(s): http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy "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)
GPHN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophyPMID:22065924 PMID:25741868 PMID:27032803 PMID:28492532
GPHN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone-rod dystrophyPMID:15258582 PMID:16269441 PMID:20006610 PMID:23847139 PMID:24474277 PMID:25741868 PMID:28492532 PMID:32014858
GPHN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rod-cone dystrophyPMID:16269441 PMID:25741868 PMID:28157192 PMID:28492532 PMID:30134391 PMID:36909829
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