rs113994136, STAT3

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.020 GeneticVariation BEFREE Specifically the G149R, V362I, and R381Q IL23Rα chain variants are linked to protection against the development of Crohn disease and ulcerative colitis in humans. 26887945 2016
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.020 GeneticVariation BEFREE We and others have shown that the minor, nonconserved allele Gln381 of the Arg381Gln single-nucleotide polymorphism (rs11209026G>A) of the IL-23 receptor gene (IL23R) protects against psoriasis. 23563201 2013
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE Our results show that the R381Q IL23R variant leads to selective, potentially desirable, loss of function alterations in primary human CD4+ and CD8+ T cells, resulting in highly significant protection against autoimmunity. 21606346 2011
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.020 GeneticVariation BEFREE This data provides an explanation for the protective role of R381Q in CD and may lead to the development of improved therapeutics for autoimmune disorders like CD. 22022372 2011
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.020 GeneticVariation BEFREE Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoriasis, Crohn's disease and ankylosing spondylitis. 21364948 2011
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.020 GeneticVariation BEFREE This data provides an explanation for the protective role of R381Q in CD and may lead to the development of improved therapeutics for autoimmune disorders like CD. 22022372 2011
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE Specifically the G149R, V362I, and R381Q IL23Rα chain variants are linked to protection against the development of Crohn disease and ulcerative colitis in humans. 26887945 2016
Inflammatory disorder
CUI: C1290884
Disease: Inflammatory disorder
0.010 GeneticVariation BEFREE Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses. 21606346 2011
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE Genome-wide association studies have shown that the IL23R R381Q gene variant protects against psoriasis, Crohn's disease and ankylosing spondylitis. 21364948 2011