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:familial adult myoclonic epilepsy
go back to main search page
Accession:DOID:0111689 term browser browse the term
Definition:An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. (DO)
Synonyms:exact_synonym: BAFME;   FAME;   FCMTE;   FMCTE;   benign adult familial myoclonic epilepsy;   benign adult familial myoclonus epilepsy;   familial cortical myoclonic tremor and epilepsy
 xref: OMIM:PS601068;   ORDO:86814
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
PMID:29507423 PMID:29939203 NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 ClinVar PMID:25741868 NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
JBrowse link
G Stard7 StAR-related lipid transfer domain containing 7 ISO OMIM NCBI chr 3:114,487,163...114,515,825
Ensembl chr 3:114,485,600...114,515,813
JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marchf6 membrane associated ring-CH-type finger 6 ISO OMIM NCBI chr 2:82,455,686...82,532,917
Ensembl chr 2:82,455,689...82,532,910
JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yeats2 YEATS domain containing 2 ISO OMIM NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar Annotator: match by OMIM:615400
OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 ClinVar
OMIM
PMID:29507423 NCBI chr 1:177,561,898...177,715,669
Ensembl chr 1:177,646,030...177,715,660
JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
ClinVar
OMIM
PMID:25741868 PMID:29507423 NCBI chr 2:164,207,513...164,322,157
Ensembl chr 2:164,207,513...164,244,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      electroclinical syndrome 706
        absence epilepsy 109
          adolescence-adult electroclinical syndrome 37
            familial adult myoclonic epilepsy 8
              familial adult myoclonic epilepsy 1 1
              familial adult myoclonic epilepsy 2 2
              familial adult myoclonic epilepsy 3 1
              familial adult myoclonic epilepsy 4 1
              familial adult myoclonic epilepsy 5 1
              familial adult myoclonic epilepsy 6 1
              familial adult myoclonic epilepsy 7 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            epilepsy 2176
              electroclinical syndrome 706
                absence epilepsy 109
                  adolescence-adult electroclinical syndrome 37
                    familial adult myoclonic epilepsy 8
                      familial adult myoclonic epilepsy 1 1
                      familial adult myoclonic epilepsy 2 2
                      familial adult myoclonic epilepsy 3 1
                      familial adult myoclonic epilepsy 4 1
                      familial adult myoclonic epilepsy 5 1
                      familial adult myoclonic epilepsy 6 1
                      familial adult myoclonic epilepsy 7 1
paths to the root