MCID: EPL142
MIFTS: 16

Epilepsy Idiopathic Generalized 8 malady

Genetic diseases (common) category

Summaries for Epilepsy Idiopathic Generalized 8

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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:47 612899

Aliases & Classifications for Epilepsy Idiopathic Generalized 8

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Epilepsy Idiopathic Generalized 8, Aliases & Descriptions:

Name: Epilepsy Idiopathic Generalized 8 47
Epilepsy, Idiopathic Generalized, Susceptibility to, 8 11 22 24
 
Epilepsy, Idiopathic Generalized 8 47


Classifications:

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


External Ids:

OMIM47 612899

Related Diseases for Epilepsy Idiopathic Generalized 8

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Symptoms for Epilepsy Idiopathic Generalized 8

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Clinical features from OMIM:

612899

Drugs & Therapeutics for Epilepsy Idiopathic Generalized 8

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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

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Genetic tests related to Epilepsy Idiopathic Generalized 8:

id Genetic test Affiliating Genes
1 Epilepsy, Idiopathic Generalized, Susceptibility to, 822 CASR
2 Epilepsy, Idiopathic Generalized 824

Anatomical Context for Epilepsy Idiopathic Generalized 8

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Animal Models for Epilepsy Idiopathic Generalized 8 or affiliated genes

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Publications for Epilepsy Idiopathic Generalized 8

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Variations for Epilepsy Idiopathic Generalized 8

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

64
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:

7
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

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

Pathways for genes affiliated with Epilepsy Idiopathic Generalized 8

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Compounds for genes affiliated with Epilepsy Idiopathic Generalized 8

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GO Terms for genes affiliated with Epilepsy Idiopathic Generalized 8

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Products for genes affiliated with Epilepsy Idiopathic Generalized 8

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Epilepsy Idiopathic Generalized 8

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet