FAME7
MCID: EPL228
MIFTS: 12

Epilepsy, Familial Adult Myoclonic, 7 (FAME7)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Adult Myoclonic, 7

MalaCards integrated aliases for Epilepsy, Familial Adult Myoclonic, 7:

Name: Epilepsy, Familial Adult Myoclonic, 7 57 6
Cortical Myoclonic Tremor with Epilepsy, Familial, 7; Fcmte7 57
Cortical Myoclonic Tremor with Epilepsy, Familial, 7 57
Benign Adult Familial Myoclonic Epilepsy 7; Bafme7 57
Benign Adult Familial Myoclonic Epilepsy 7 57
Bafme7 57
Fcmte7 57
Fame7 57

Classifications:



External Ids:

OMIM 57 618075

Summaries for Epilepsy, Familial Adult Myoclonic, 7

MalaCards based summary : Epilepsy, Familial Adult Myoclonic, 7, is also known as cortical myoclonic tremor with epilepsy, familial, 7; fcmte7. An important gene associated with Epilepsy, Familial Adult Myoclonic, 7 is RAPGEF2 (Rap Guanine Nucleotide Exchange Factor 2).

Description from OMIM: 618075

Symptoms & Phenotypes for Epilepsy, Familial Adult Myoclonic, 7

Clinical features from OMIM:

618075

Drugs & Therapeutics for Epilepsy, Familial Adult Myoclonic, 7

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Adult Myoclonic, 7

Genetic Tests for Epilepsy, Familial Adult Myoclonic, 7

Anatomical Context for Epilepsy, Familial Adult Myoclonic, 7

Publications for Epilepsy, Familial Adult Myoclonic, 7

Variations for Epilepsy, Familial Adult Myoclonic, 7

ClinVar genetic disease variations for Epilepsy, Familial Adult Myoclonic, 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAPGEF2 RAPGEF2, 5-BP INS, TTTCA(n) insertion Pathogenic

Expression for Epilepsy, Familial Adult Myoclonic, 7

Search GEO for disease gene expression data for Epilepsy, Familial Adult Myoclonic, 7.

Pathways for Epilepsy, Familial Adult Myoclonic, 7

GO Terms for Epilepsy, Familial Adult Myoclonic, 7

Sources for Epilepsy, Familial Adult Myoclonic, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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