Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 GeneticVariation disease BEFREE We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). 28503715 2017
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 GeneticVariation disease BEFREE Deficiency of interleukin 1 receptor antagonist (DIRA) is a recently described autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene encoding the interleukin 1 receptor antagonist. 22431714 2012
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 GeneticVariation disease BEFREE A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. 22127713 2011
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 GeneticVariation disease BEFREE The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. 21792839 2011
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 GermlineCausalMutation disease ORPHANET We propose the term deficiency of the interleukin-1-receptor antagonist, or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN. 19494218 2009
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 Biomarker disease GENOMICS_ENGLAND We propose the term deficiency of the interleukin-1-receptor antagonist, or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN. 19494218 2009
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 Biomarker disease GENOMICS_ENGLAND An autoinflammatory disease due to homozygous deletion of the IL1RN locus. 19494219 2009
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 CausalMutation disease CLINVAR
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 Biomarker disease CTD_human
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
0.740 Biomarker disease GENOMICS_ENGLAND