MCID: GBR005

Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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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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20GeneTests, 62UMLS
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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 20
generalized epilepsy with febrile seizures plus, type 3 62


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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus

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

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

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20GeneTests
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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 Plus20 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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet