MCID: FBR070

Febrile Seizures, Familial, 8 malady

Genetic diseases (common) category
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Summaries for Febrile Seizures, Familial, 8

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47OMIM, 33MalaCards
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MalaCards: Febrile Seizures, Familial, 8 An important gene associated with Febrile Seizures, Familial, 8 is GABRG2 (gamma-aminobutyric acid (GABA) A receptor, gamma 2).

Description from OMIM:47 611277

Aliases & Classifications for Febrile Seizures, Familial, 8

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47OMIM
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Classifications:

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


Aliases & Descriptions:

febrile seizures, familial, 8 47


Related Diseases for Febrile Seizures, Familial, 8

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Symptoms for Febrile Seizures, Familial, 8

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47OMIM
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Clinical features from OMIM:

611277

Drugs & Therapeutics for Febrile Seizures, Familial, 8

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Febrile Seizures, Familial, 8

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Anatomical Context for Febrile Seizures, Familial, 8

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Animal Models for Febrile Seizures, Familial, 8 or affiliated genes

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Publications for Febrile Seizures, Familial, 8

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Variations for Febrile Seizures, Familial, 8

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Febrile Seizures, Familial, 8:

64
id Symbol AA change Variation ID SNP ID
1GABRG2p.Arg82GlnVAR_014265rs28933070
2GABRG2p.Lys328MetVAR_014266
3GABRG2p.Arg177GlyVAR_038602

Clinvar genetic disease variations for Febrile Seizures, Familial, 8:

1
id Gene Name Type Significance SNP ID Assembly Location
1GABRG2NM_198903.2(GABRG2): c.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
2GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
3GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845

Expression for genes affiliated with Febrile Seizures, Familial, 8

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Febrile Seizures, Familial, 8

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Pathways for genes affiliated with Febrile Seizures, Familial, 8

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Compounds for genes affiliated with Febrile Seizures, Familial, 8

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GO Terms for genes affiliated with Febrile Seizures, Familial, 8

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Products for genes affiliated with Febrile Seizures, Familial, 8

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Febrile Seizures, Familial, 8

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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