MCID: EPL020
MIFTS: 13

Epilepsy, Idiopathic Generalized, Susceptibility to, 8 malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

About this section


MalaCards based summary: 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:46 612899

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

About this section

Epilepsy, Idiopathic Generalized, Susceptibility to, 8, Aliases & Descriptions:

Name: Epilepsy, Idiopathic Generalized, Susceptibility to, 8 21 23
 
Epilepsy Idiopathic Generalized 8 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


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

About this section

Symptoms for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

About this section


Clinical features from OMIM:

612899

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

About this section

Drug clinical trials:

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

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

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

About this section

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

id Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 821 CASR
2 Epilepsy, Idiopathic Generalized 823

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

About this section

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

About this section

Publications for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

About this section

Variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

About this section

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8:

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

Clinvar genetic disease variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8:

7
id Gene Name Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.2693G> A (p.Arg898Gln)single nucleotide variantrisk factorrs121909269GRCh37Chr 3, 122003494: 122003494

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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet