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 8
Accession: DOID:0111451
browse the term
Definition: A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)
Synonyms: exact_synonym: CERS1-RELATED CONDITION; EMP8; EPM8; PME type 8; PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8; progressive myoclonic epilepsy 8; progressive myoclonic epilepsy due to CERS1 deficiency; progressive myoclonus epilepsy type 8
primary_id: MIM:616230
xref: ORDO:424027
G
Armc6
armadillo repeat containing 6
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,225,049...19,240,032
G
Borcs8
BLOC-1 related complex subunit 8
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,308,247...19,314,963
G
Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17924340 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,131,276...19,146,480
G
Comp
cartilage oligomeric matrix protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,081,172...19,089,548
Ensembl chr16:19,081,172...19,089,605
G
Cope
COPI coat complex subunit epsilon
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,148,832...19,159,052
Ensembl chr16:19,148,832...19,159,212
G
Ddx49
DEAD-box helicase 49
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,159,087...19,167,580
G
Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17924340 PMID:19243074 PMID:24033266 PMID:24782409 PMID:25741868 PMID:28492532 PMID:30800706 More...
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,131,276...19,146,480
G
Homer3
homer scaffold protein 3
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,165,482...19,176,640
G
Mef2b
myocyte enhancer factor 2B
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,286,953...19,302,910
G
Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,322,405...19,324,637
G
Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,314,759...19,325,248
G
Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,247,725...19,270,976
G
Sugp2
SURP and G patch domain containing 2
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,198,831...19,225,292
G
Tmem161a
transmembrane protein 161A
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,272,434...19,282,332
G
Upf1
UPF1, RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8
ClinVar
PMID:28492532
NCBI chr16:19,110,531...19,131,327
Ensembl chr16:19,110,538...19,131,327
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all