MCID: FBR070

Febrile Seizures, Familial, 8 malady

Genetic diseases (common) category

Summaries for Febrile Seizures, Familial, 8

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MalaCards based summary: 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:46 611277

Aliases & Classifications for Febrile Seizures, Familial, 8

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Febrile Seizures, Familial, 8, Aliases & Descriptions:

Name: Febrile Seizures, Familial, 8 46


Classifications:

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


Related Diseases for Febrile Seizures, Familial, 8

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Symptoms for Febrile Seizures, Familial, 8

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Clinical features from OMIM:

611277

Drugs & Therapeutics for Febrile Seizures, Familial, 8

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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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UniProtKB/Swiss-Prot genetic disease variations for Febrile Seizures, Familial, 8:

63
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:

7
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.245G> A (p.Arg82Gln)single nucleotide variantPathogenic, risk factorrs121909673GRCh37Chr 5, 161520971: 161520971
3GABRG2NM_198903.2(GABRG2): c.1312C> T (p.Gln438Ter)single nucleotide variantPathogenicrs121909674GRCh37Chr 5, 161580138: 161580138
4GABRG2GABRG2, IVS6DS, T-G, +2single nucleotide variantPathogenic, risk factor
5GABRG2NM_198903.2(GABRG2): c.529C> G (p.Arg177Gly)single nucleotide variantPathogenicrs267606837GRCh37Chr 5, 161524845: 161524845
6GABRG2NM_198903.2(GABRG2): c.1088G> A (p.Arg363Gln)single nucleotide variantPathogenicrs397514737GRCh37Chr 5, 161576159: 161576159

Expression for genes affiliated with Febrile Seizures, Familial, 8

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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
  • Proteins
  • Kits and Assays

Sources for Febrile Seizures, Familial, 8

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet