MCID: EPL020

Epilepsy, Idiopathic Generalized, Susceptibility to, 8 malady

Summaries for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Epilepsy, Idiopathic Generalized, Susceptibility to, 8, is also known as epilepsy idiopathic generalized 8 An important gene associated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8 is CASR (calcium-sensing receptor).

Description from OMIM:47 612899

Aliases & Classifications for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
20GeneTests, 22GTR, 47OMIM
See all sources

Aliases & Descriptions:

epilepsy, idiopathic generalized, susceptibility to, 8 20 22
epilepsy idiopathic generalized 8 47


Related Diseases for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Clinical Features for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612899

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Drug clinical trials:

Search ClinicalTrials for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Search NIH Clinical Center for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Search CenterWatch for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Genetic Tests for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Epilepsy, Idiopathic Generalized, Susceptibility to, 8:

id Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility To, 820 CASR
2 Epilepsy, Idiopathic Generalized 822

Anatomical Context for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Animal Models for Epilepsy, Idiopathic Generalized, Susceptibility to, 8 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Genetic Variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8:

63
id Symbol AA change Variation SNP ID
1CASRp.Glu354AlaVAR_060206
2CASRp.Ile686ValVAR_060207
3CASRp.Arg898GlnVAR_060208
4CASRp.Ala988GlyVAR_060209
5CASRp.Ala988ValVAR_060210

Expression for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized, Susceptibility to, 8.

Pathways for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Compounds for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

GO Terms for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

Products for genes affiliated with Epilepsy, Idiopathic Generalized, Susceptibility to, 8

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet