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GENE - TERM ANNOTATION REPORT

RGD ID: 1317598
Species: Homo sapiens
RGD Object: Gene
Symbol: VPS13B
Name: vacuolar protein sorting 13 homolog B
Acc ID: HP:0000510
Term: Rod-cone dystrophy
Definition: An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:20212494
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)
VPS13B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868
VPS13B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868
VPS13B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:28492532
VPS13B IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa

PMID:25741868 PMID:26467025 PMID:28492532
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