MCID: FBR070

Febrile Seizures, Familial, 8 malady

Genetic diseases (common) category

Summaries for Febrile Seizures, Familial, 8

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 611277

Aliases & Classifications for Febrile Seizures, Familial, 8

About this section
Sources:
48OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

febrile seizures, familial, 8 48


Related Diseases for Febrile Seizures, Familial, 8

About this section

Symptoms for Febrile Seizures, Familial, 8

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

611277

Drugs & Therapeutics for Febrile Seizures, Familial, 8

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Febrile Seizures, Familial, 8

Drug clinical trials:

Search ClinicalTrials for Febrile Seizures, Familial, 8

Search NIH Clinical Center for Febrile Seizures, Familial, 8

Search CenterWatch for Febrile Seizures, Familial, 8

Genetic Tests for Febrile Seizures, Familial, 8

About this section

Anatomical Context for Febrile Seizures, Familial, 8

About this section

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

About this section

Publications for Febrile Seizures, Familial, 8

About this section

Variations for Febrile Seizures, Familial, 8

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Febrile Seizures, Familial, 8

Search GEO for disease gene expression data for Febrile Seizures, Familial, 8.

Pathways for genes affiliated with Febrile Seizures, Familial, 8

About this section

Compounds for genes affiliated with Febrile Seizures, Familial, 8

About this section

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

About this section

Products for genes affiliated with Febrile Seizures, Familial, 8

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Febrile Seizures, Familial, 8

About this section
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