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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 9
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Accession:DOID:0111450 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: EMP9;   EPM9;   PME type 9;   progressive myoclonic epilepsy 9;   progressive myoclonic epilepsy due to LMNB2 deficiency;   progressive myoclonic epilepsy type 9;   progressive myoclonus epilepsy type 9
 xref: MIM:616540;   MONDO:0014685;   ORDO:457265

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progressive myoclonus epilepsy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,915,126...6,923,433
Ensembl chrNW_004624828:6,917,061...6,923,433 		JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,192,160...7,201,832
Ensembl chrNW_004624828:7,192,191...7,199,035 		JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,635,192...6,638,104
Ensembl chrNW_004624828:6,631,420...6,637,732 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,710,081...6,750,315
Ensembl chrNW_004624828:6,710,025...6,749,434 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,220,768...7,247,395
Ensembl chrNW_004624828:7,223,251...7,247,421 		JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,976,451...6,994,152
Ensembl chrNW_004624828:6,976,466...6,994,267 		JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,815,966...6,828,233 JBrowse link
G Csnk1g2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,832,157...6,859,244
Ensembl chrNW_004624828:6,833,114...6,839,914 		JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,217,567...7,220,839
Ensembl chrNW_004624828:7,217,890...7,219,253 		JBrowse link
G Diras1 DIRAS family GTPase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,808,355...5,816,865
Ensembl chrNW_004624828:5,809,660...5,816,819 		JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,648,403...6,697,617
Ensembl chrNW_004624828:6,650,762...6,697,879 		JBrowse link
G Gadd45b growth arrest and DNA damage inducible beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,663,604...5,665,666
Ensembl chrNW_004624828:5,663,485...5,665,666 		JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750 		JBrowse link
G Gng7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,683,248...5,803,088
Ensembl chrNW_004624828:5,685,915...5,690,729 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,751,736...6,754,746
Ensembl chrNW_004624828:6,751,884...6,754,688 		JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,933,480...6,944,238
Ensembl chrNW_004624828:6,933,630...6,942,347 		JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,592,941...6,609,698
Ensembl chrNW_004624828:6,592,957...6,609,665 		JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM		 PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chrNW_004624828:5,630,328...5,648,231
Ensembl chrNW_004624828:5,633,191...5,648,240 		JBrowse link
G LOC101726493 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,123,371...7,127,341
Ensembl chrNW_004624828:7,123,392...7,127,337 		JBrowse link
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,576,672...6,584,303
Ensembl chrNW_004624828:6,576,708...6,584,303 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,132,228...7,144,599
Ensembl chrNW_004624828:7,132,274...7,144,964 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,149,766...7,157,689
Ensembl chrNW_004624828:7,146,823...7,157,745 		JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,788,069...6,801,370 JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,755,018...6,771,614
Ensembl chrNW_004624828:6,755,059...6,771,961 		JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,617,342...6,620,466
Ensembl chrNW_004624828:6,617,727...6,620,402 		JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,998,099...7,016,844
Ensembl chrNW_004624828:6,999,453...7,016,844 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,208,995...7,216,188 JBrowse link
G Peak3 PEAK family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,612,201...6,615,888 JBrowse link
G Plekhj1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,645,967...6,648,137
Ensembl chrNW_004624828:6,646,034...6,648,137 		JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,172,286...7,181,564 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,202,911...7,208,169
Ensembl chrNW_004624828:7,202,984...7,208,408 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,948,422...6,973,588
Ensembl chrNW_004624828:6,948,568...6,972,936 		JBrowse link
G Sf3a2 splicing factor 3a subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,638,546...6,646,529
Ensembl chrNW_004624828:6,638,660...6,644,788 		JBrowse link
G Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,832,274...5,854,472
Ensembl chrNW_004624828:5,834,586...5,843,528 		JBrowse link
G Slc39a3 solute carrier family 39 member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,819,220...5,827,875
Ensembl chrNW_004624828:5,820,306...5,827,846 		JBrowse link
G Sppl2b signal peptide peptidase like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,564,127...6,576,663
Ensembl chrNW_004624828:6,562,426...6,576,609 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428 		JBrowse link
G Thop1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:5,857,667...5,873,055
Ensembl chrNW_004624828:5,857,846...5,873,462 		JBrowse link
G Timm13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,529,710...6,530,910
Ensembl chrNW_004624828:6,529,727...6,530,916 		JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,131,418...6,149,388
Ensembl chrNW_004624828:6,131,452...6,149,377 		JBrowse link
G Tle5 TLE family member 5, transcriptional modulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,113,037...6,121,951
Ensembl chrNW_004624828:6,113,044...6,121,720 		JBrowse link
G Tle6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,149,869...6,157,875 JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004624828:6,530,911...6,560,640
Ensembl chrNW_004624828:6,531,482...6,548,605 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    syndrome 9756
      electroclinical syndrome 1384
        variable age at onset electroclinical syndrome 188
          progressive myoclonus epilepsy 185
            progressive myoclonus epilepsy 9 43
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        central nervous system disease 11004
          brain disease 10320
            movement disease 2383
              Dyskinesias 2034
                Myoclonus 382
                  Myoclonic Epilepsies 377
                    progressive myoclonus epilepsy 185
                      progressive myoclonus epilepsy 9 43
paths to the root