snowflake vitreoretinal degeneration - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	snowflake vitreoretinal degeneration	go back to main search page
Accession:	DOID:0111570	browse the term
Definition:	An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. (DO)
Synonyms:	exact_synonym:	SVD; snowflake degeneration in hereditary vitreoretinal degeneration; vitreoretinal degeneration, Snowflake type
	primary_id:	MESH:C536677
	alt_id:	MIM:193230
	xref:	GARD:9706; ORDO:91496

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Genes (2)

snowflake vitreoretinal degeneration

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gigyf2

GRB10 interacting GYF protein 2

ISO

ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration

ClinVar

PMID:15557460 PMID:18179896 PMID:23255580 PMID:23977131 PMID:25741868 More...

NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715

Kcnj13

potassium inwardly-rectifying channel, subfamily J, member 13

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Snowflake vitreoretinal degeneration

OMIM
CTD
ClinVar

PMID:15557460 PMID:18179896 PMID:23255580 PMID:23977131 PMID:25741868 More...

NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112

Term paths to the root

Path 1
Term	Annotations
disease	19137
sensory system disease	7376
eye disease	3723
eye degenerative disease	927
snowflake vitreoretinal degeneration	2
Path 2
Term	Annotations
disease	19137
disease of anatomical entity	18450
nervous system disease	14357
Neurologic Manifestations	10449
sensory system disease	7376
eye disease	3723
eye degenerative disease	927
retinal degeneration	925
snowflake vitreoretinal degeneration	2

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS