MCID: GBR005

Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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MalaCards: Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus, is also known as generalized epilepsy with febrile seizures plus, type 3 An important gene associated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2).

Aliases & Classifications for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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21GeneTests, 63UMLS
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Classifications:

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


Aliases & Descriptions:

gabrg2-related generalized epilepsy with febrile seizures plus 21
generalized epilepsy with febrile seizures plus, type 3 63


Related Diseases for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Symptoms for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Drugs & Therapeutics for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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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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Search NIH Clinical Center for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Genetic Tests for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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21GeneTests
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Genetic tests related to Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus:

id Genetic test Affiliating Genes
1 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus21 GABRG2

Anatomical Context for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Animal Models for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus or affiliated genes

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Publications for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Variations for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus:

1
id Gene Name Type Significance SNP ID Assembly Location
1GABRG2NM_198903.2(GABRG2): c.1103A> T (p.Lys368Met)single nucleotide variantPathogenicrs121909672GRCh37Chr 5, 161576174: 161576174
2GABRG2NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs121909674GRCh37Chr 5, 161580138: 161580138
3GABRG2NM_198903.2(GABRG2): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs397514737GRCh37Chr 5, 161576159: 161576159

Expression for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Pathways for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Compounds for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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GO Terms for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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Products for genes affiliated with Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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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