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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:familial adult myoclonic epilepsy
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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: ADCME;   BAFME;   FAME;   FCMTE;   FMCTE;   autosomal dominant cortical myoclonus and epilepsy;   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.


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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 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stard7 StAR-related lipid transfer domain containing 7 ISO OMIM NCBI chr 3:119,698,655...119,727,303
Ensembl chr 3:119,698,652...119,727,347
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 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712
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 chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542
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:23518707 PMID:25741868 PMID:28492532 NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394
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
OMIM
PMID:25741868 PMID:29507423 NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      electroclinical syndrome 390
        absence epilepsy 109
          adolescence-adult electroclinical syndrome 41
            familial adult myoclonic epilepsy 7
              familial adult myoclonic epilepsy 1 1
              familial adult myoclonic epilepsy 2 1
              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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            epilepsy 1505
              electroclinical syndrome 390
                absence epilepsy 109
                  adolescence-adult electroclinical syndrome 41
                    familial adult myoclonic epilepsy 7
                      familial adult myoclonic epilepsy 1 1
                      familial adult myoclonic epilepsy 2 1
                      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