generalized epilepsy with febrile seizures plus 10 - 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:	generalized epilepsy with febrile seizures plus 10	go back to main search page
Accession:	DOID:0111296	browse the term
Definition:	A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)
Synonyms:	exact_synonym:	GEFS+, type 10; GEFS+10; GEFSP10; generalised epilepsy with febrile seizures plus 10; generalised epilepsy with febrile seizures plus type 10; generalized epilepsy with febrile seizures plus, type 10
	primary_id:	OMIM:618482

show annotations for term's descendants Sort by:
Rat (1) Mouse (1) Human (27) Chinchilla (1) Bonobo (1) Dog (1) Squirrel (1) Pig (1) Green Monkey (1) Naked Mole-rat (1) All
Genes (1)

generalized epilepsy with febrile seizures plus 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hcn1

hyperpolarization-activated cyclic nucleotide-gated potassium channel 1

ISO

ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10

OMIM
ClinVar

PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More...

NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774

Term paths to the root

Path 1
Term	Annotations
disease	18970
disease of anatomical entity	18265
nervous system disease	14120
central nervous system disease	12440
brain disease	11678
epilepsy	2816
Febrile Seizures	61
generalized epilepsy with febrile seizures plus	28
generalized epilepsy with febrile seizures plus 10	1
Path 2
Term	Annotations
disease	18970
disease of anatomical entity	18265
nervous system disease	14120
central nervous system disease	12440
brain disease	11678
epilepsy	2816
Generalized Epilepsy	393
idiopathic generalized epilepsy	250
generalized epilepsy with febrile seizures plus	28
generalized epilepsy with febrile seizures plus 10	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)

Create Name:

Description:

Send us a Message

RGD DISEASE ONTOLOGY - ANNOTATIONS