progressive myoclonus epilepsy 1B - 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:	progressive myoclonus epilepsy 1B	go back to main search page
Accession:	DOID:0111448	browse the term
Definition:	An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. (DO)
Synonyms:	exact_synonym:	EPM1B; PRICKLE1-related progressive myoclonic epilepsy with ataxia; PRICKLE1-related progressive myoclonus epilepsy with ataxia; Pme with Ataxia; Progressive Myoclonic Epilepsy 1b; progressive myoclonus epilepsy with ataxia
	primary_id:	MESH:C580388
	alt_id:	OMIM:612437

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Genes (2)

progressive myoclonus epilepsy 1B

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Prickle1

prickle planar cell polarity protein 1

ISO
ISS

ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
OMIM:612437
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More...

NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113

Tbc1d24

TBC1 domain family, member 24

ISO

ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B

ClinVar

PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140

NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050

Term paths to the root

Path 1
Term	Annotations
disease	18969
Developmental Disease	14401
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13418
genetic disease	13036
Nervous System Heredodegenerative Disorders	3255
Unverricht-Lundborg syndrome	3
progressive myoclonus epilepsy 1B	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
movement disease	2584
Dyskinesias	2197
Myoclonus	380
Myoclonic Epilepsies	373
progressive myoclonus epilepsy	197
Unverricht-Lundborg syndrome	3
progressive myoclonus epilepsy 1B	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