Annotation Detail
Information
- Associated Genes
- TNFRSF1A
- Associated Variants
-
TNFRSF1A p.Arg121Pro (p.R121P)
(
ENST00000440083.7,
ENST00000540022.5,
ENST00000162749.7 )
TNFRSF1A p.Arg121Gln (p.R121Q) ( ENST00000440083.7, ENST00000540022.5, ENST00000162749.7 )
TNFRSF1A p.Pro75Leu (p.P75L) ( ENST00000440083.7, ENST00000162749.7, ENST00000540022.5 )
TNFRSF1A p.Arg121Pro (p.R121P) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 )
TNFRSF1A p.Arg121Gln (p.R121Q) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 )
TNFRSF1A p.Pro75Leu (p.P75L) ( ENST00000162749.7, ENST00000440083.7, ENST00000540022.5 ) - Associated Disease
- TNF receptor-associated periodic fever syndrome (TRAPS)
- Source Database
- DisGeNET
- Description
- The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
- Pubmed
- 11443543
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.581563460026183
- Year of publication
- 2001
Drugs