age related macular degeneration 9 - Ontology Report

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:	age related macular degeneration 9	go back to main search page
Accession:	DOID:0110021	browse the term
Definition:	An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. (DO)
Synonyms:	exact_synonym:	ARMD9
	related_synonym:	C3S/C3F POLYMORPHISM; age related macular degeneration 9, susceptibility to
	primary_id:	MESH:C566958
	alt_id:	OMIM:611378

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Genes (1)

age related macular degeneration 9

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

complement C3

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Age related macular degeneration 9 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO

CTD
ClinVar
OMIM

PMID:1976733 PMID:7870343 PMID:9536098 PMID:12462331 PMID:14639503 More...

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

Term paths to the root

Path 1
Term	Annotations
disease	18969
Diseases of the Aged	1474
macular degeneration	161
degeneration of macula and posterior pole	78
age related macular degeneration	48
age related macular degeneration 9	1
Path 2
Term	Annotations
disease	18969
Pathological Conditions, Signs and Symptoms	13345
Signs and Symptoms	10821
Neurologic Manifestations	10055
sensory system disease	6961
eye disease	3492
retinal disease	1223
retinal degeneration	853
macular degeneration	161
degeneration of macula and posterior pole	78
age related macular degeneration	48
age related macular degeneration 9	1

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