MCID: EPL142
MIFTS: 14

Epilepsy Idiopathic Generalized 8 malady

Genetic diseases (common) category

Aliases & Classifications for Epilepsy Idiopathic Generalized 8

About this section

Aliases & Descriptions for Epilepsy Idiopathic Generalized 8:

Name: Epilepsy Idiopathic Generalized 8 46
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 9 20 22
 
Epilepsy, Idiopathic Generalized 8 46


Classifications:



External Ids:

OMIM46 612899

Summaries for Epilepsy Idiopathic Generalized 8

About this section
MalaCards based summary: Epilepsy Idiopathic Generalized 8, is also known as epilepsy, idiopathic generalized, susceptibility to, 8 An important gene associated with Epilepsy Idiopathic Generalized 8 is CASR (calcium-sensing receptor).

Description from OMIM:46 612899

Related Diseases for Epilepsy Idiopathic Generalized 8

About this section

Symptoms for Epilepsy Idiopathic Generalized 8

About this section


Clinical features from OMIM:

612899

Drugs & Therapeutics for Epilepsy Idiopathic Generalized 8

About this section

Drug clinical trials:

Search ClinicalTrials for Epilepsy Idiopathic Generalized 8

Search NIH Clinical Center for Epilepsy Idiopathic Generalized 8

Genetic Tests for Epilepsy Idiopathic Generalized 8

About this section

Genetic tests related to Epilepsy Idiopathic Generalized 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 8

About this section

Animal Models for Epilepsy Idiopathic Generalized 8 or affiliated genes

About this section

Publications for Epilepsy Idiopathic Generalized 8

About this section

Variations for Epilepsy Idiopathic Generalized 8

About this section

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

5
id Gene Variation 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 8

About this section
Search GEO for disease gene expression data for Epilepsy Idiopathic Generalized 8.

Pathways for genes affiliated with Epilepsy Idiopathic Generalized 8

About this section

Compounds for genes affiliated with Epilepsy Idiopathic Generalized 8

About this section

GO Terms for genes affiliated with Epilepsy Idiopathic Generalized 8

About this section

Sources for Epilepsy Idiopathic Generalized 8

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet