Stargardt Disease 4 - 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:	Stargardt Disease 4	go back to main search page
Accession:	DOID:9000565	browse the term
Synonyms:	exact_synonym:	STGD4
	broad_synonym:	Stargardt disease, dominant
	primary_id:	MESH:C535521
	alt_id:	MIM:603786

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Genes (2)

Stargardt Disease 4

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ELOVL4

ELOVL fatty acid elongase 4

ISO

ClinVar Annotator: match by term: Stargardt Disease, Dominant

ClinVar

NCBI chr12:40,845,357...40,876,658
Ensembl chr12:40,846,202...40,876,758

PROM1

prominin 1

ISO

ClinVar Annotator: match by term: Stargardt Disease, Dominant | ClinVar Annotator: match by term: Stargardt disease 4

OMIM
ClinVar

PMID:3181667 PMID:3253185 PMID:3442652 PMID:9634506 PMID:10205271 More...

NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009

Term paths to the root

Path 1
Term	Annotations
disease	15753
Diseases of the Aged	1254
macular degeneration	154
degeneration of macula and posterior pole	77
age related macular degeneration	49
Stargardt disease	27
Stargardt Disease 4	2
Path 2
Term	Annotations
disease	15753
Pathological Conditions, Signs and Symptoms	12322
Signs and Symptoms	10317
Neurologic Manifestations	9992
sensory system disease	7034
eye disease	3622
retinal disease	1422
retinal degeneration	908
macular degeneration	154
degeneration of macula and posterior pole	77
age related macular degeneration	49
Stargardt disease	27
Stargardt Disease 4	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS