MCID: EPL043
MIFTS: 12

Epilepsy, Childhood Absence, Susceptibility to, 4 malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Epilepsy, Childhood Absence, Susceptibility to, 4

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MalaCards based summary: Epilepsy, Childhood Absence, Susceptibility to, 4, is also known as epilepsy, childhood absence 4 An important gene associated with Epilepsy, Childhood Absence, Susceptibility to, 4 is GABRA1 (gamma-aminobutyric acid (GABA) A receptor, alpha 1).

Description from OMIM:46 611136

Aliases & Classifications for Epilepsy, Childhood Absence, Susceptibility to, 4

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Epilepsy, Childhood Absence, Susceptibility to, 4, Aliases & Descriptions:

Name: Epilepsy, Childhood Absence, Susceptibility to, 4 20 22
 
Epilepsy, Childhood Absence 4 46


Classifications:

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


Related Diseases for Epilepsy, Childhood Absence, Susceptibility to, 4

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Symptoms for Epilepsy, Childhood Absence, Susceptibility to, 4

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Clinical features from OMIM:

611136

Drugs & Therapeutics for Epilepsy, Childhood Absence, Susceptibility to, 4

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Drug clinical trials:

Search ClinicalTrials for Epilepsy, Childhood Absence, Susceptibility to, 4

Search NIH Clinical Center for Epilepsy, Childhood Absence, Susceptibility to, 4

Genetic Tests for Epilepsy, Childhood Absence, Susceptibility to, 4

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Genetic tests related to Epilepsy, Childhood Absence, Susceptibility to, 4:

id Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence, Susceptibility to, 420 GABRA1
2 Epilepsy, Childhood Absence 422

Anatomical Context for Epilepsy, Childhood Absence, Susceptibility to, 4

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Animal Models for Epilepsy, Childhood Absence, Susceptibility to, 4 or affiliated genes

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Publications for Epilepsy, Childhood Absence, Susceptibility to, 4

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Variations for Epilepsy, Childhood Absence, Susceptibility to, 4

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UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 4:

64
id Symbol AA change Variation ID SNP ID
1GABRA1p.Ala322AspVAR_013642

Clinvar genetic disease variations for Epilepsy, Childhood Absence, Susceptibility to, 4:

6
id Gene Name Type Significance SNP ID Assembly Location
1GABRA1NC_000005.10insertionrisk factorNCBI36Chr 5, 161897090: 161897091
2GABRA1NM_000806.5(GABRA1): c.655G> A (p.Asp219Asn)single nucleotide variantrisk factorGRCh38Chr 5, 161882653: 161882653
3GABRA1NM_000806.5(GABRA1): c.965C> A (p.Ala322Asp)single nucleotide variantrisk factorrs121434579GRCh37Chr 5, 161322780: 161322780

Expression for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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Expression patterns in normal tissues for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

Search GEO for disease gene expression data for Epilepsy, Childhood Absence, Susceptibility to, 4.

Pathways for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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Compounds for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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GO Terms for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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Products for genes affiliated with Epilepsy, Childhood Absence, Susceptibility to, 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Epilepsy, Childhood Absence, Susceptibility to, 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet