Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 7
go back to main search page
Accession:DOID:0111447 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: EPM7;   MEAK;   PME type 7;   Progressive Myoclonic Epilepsy 7;   Progressive myoclonic epilepsy due to KV3.1 deficiency;   myoclonus epilepsy and ataxia due to potassium channel mutation;   progressive myoclonus epilepsy type 7
 primary_id: OMIM:616187
 xref: NCI:C142804;   ORDO:435438
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,321,401...97,349,455
Ensembl chr 1:97,321,394...97,349,455
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25401298 PMID:25741868 PMID:26467025 More... NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378
JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,148
Ensembl chr 1:98,401,538...98,415,284
JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Mrgprx3 MAS related GPR family member X3 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,720,377...97,746,953
Ensembl chr 1:97,721,436...97,746,900
JBrowse link
G Mrgprx4 MAS related GPR family member X4 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,806,099...97,807,112
Ensembl chr 1:97,806,099...97,807,112
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
JBrowse link
G Saa4 serum amyloid A4 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,247,580...97,251,882 JBrowse link
G Saal1 serum amyloid A-like 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,218,706...97,222,287 JBrowse link
G Sergef secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:96,949,660...97,152,529
Ensembl chr 1:96,949,661...97,152,496
JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,633
Ensembl chr 1:97,531,508...97,549,581
JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,595,910...97,600,260
Ensembl chr 1:97,595,842...97,600,260
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554
JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      electroclinical syndrome 706
        variable age at onset electroclinical syndrome 73
          progressive myoclonus epilepsy 68
            progressive myoclonus epilepsy 7 24
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            movement disease 1415
              Dyskinesias 1077
                Myoclonus 125
                  Myoclonic Epilepsies 120
                    progressive myoclonus epilepsy 68
                      progressive myoclonus epilepsy 7 24
paths to the root