MCID: EPL020
MIFTS: 14

Epilepsy, Idiopathic Generalized, Susceptibility to, 8 malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

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48OMIM, 34MalaCards
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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:48 612899

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

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21GeneTests, 23GTR, 48OMIM
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Classifications:

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


Aliases & Descriptions:

epilepsy, idiopathic generalized, susceptibility to, 8 21 23
epilepsy idiopathic generalized 8 48


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

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Symptoms for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

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48OMIM
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Clinical features from OMIM:

612899

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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21GeneTests, 23GTR
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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

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

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Publications for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

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Variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

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65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Idiopathic Generalized, Susceptibility to, 8:

65
id Symbol AA change Variation ID 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

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epilepsy, Idiopathic Generalized, Susceptibility to, 8

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet