IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 GeneticVariation disease UNIPROT A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 11023514 2000
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 GeneticVariation disease CLINVAR Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis. 26123418 2015
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 GeneticVariation disease CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875 2011
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		0.700 GeneticVariation disease UNIPROT Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 9843216 1998
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.590 GeneticVariation disease BEFREE PTEN and NOTCH1 mutations were almost mutually exclusive, while IL7R and WT1 mutations were rare in pediatric T-ALL and PTPN11 and AKT1 mutations were infrequent in adult T-ALL. 26341754 2015
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.590 GeneticVariation disease BEFREE Mutations in the interleukin-7 receptor (IL7R) or the Janus kinase 3 (JAK3) kinase occur frequently in T-cell acute lymphoblastic leukemia (T-ALL) and both are able to drive cellular transformation and the development of T-ALL in mouse models. 28852199 2018
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition. 16492442 2006
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE Molecular studies have shown that besides the well-known hypomorphic recombination activating gene defects, mutations in the nonhomologous end-joining factor Artemis and in the interleukin-7 receptor alpha chain can contribute to the development of Omenn syndrome. 16763459 2006
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.530 GeneticVariation disease BEFREE The OS baby harbored a homozygous p.C118Y mutation in IL7R. 24759676 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease LHGDN Risk alleles for multiple sclerosis identified by a genomewide study. 17660530 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE Here we describe linked intronic variants of MGAT5 that are associated with reduced N-glycan branching, CTLA-4 surface expression and MS (p=5.79×10(-9), n=7,741), the latter additive with the MGAT1, IL2RA and IL7RA MS risk variants (p=1.76×10(-9), OR=0.67-1.83, n=3,518). 23351704 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE For example, nucleotide variation in the interleukin 7 receptor (IL7RA), the interleukin 2 receptor (IL2RA), the CD58 and the c-type lectin domain family 16 member A (CLEC16A) genes has been consistently associated with MS in several populations. 20450971 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations. 18354419 2008
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE The C allele of a single nucleotide polymorphism (SNP), rs6897932, located in the interleukin-7 receptor alpha chain (IL7RA) was recently found to be associated with multiple sclerosis and Type I diabetes. 19744146 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease LHGDN Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. 17660816 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE Homozygosity for the IL7R exon 6 rs6897932 C allele is associated with a higher risk for MS in our Dutch population. 21543551 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE However, similar to MS, the MGAT1 variant haplotype interacted with CTLA4 (P=0.03), and a combination of IL2RA and IL7RA (P=0.01). 24572742 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE Some evidence associates multiple sclerosis and single nucleotide polymorphisms in the promoter and exonic region of IL7Ra gene. 21190413 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE A number of studies with compelling evidence have provided correlation between single nucleotide polymorphisms in interleukin-7 receptor alpha and multiple sclerosis (MS) in several populations. 24166352 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE The levels of sIL-7Rα increased dose-dependent upon rs6897932 [C] risk allele carriership in both HCs and MS. Next, we hypothesized that lower sIL-7Rα could result in a higher mIL-7Rα to soluble IL-7Rα ratio. 22914435 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE Cytokine and cytokine receptor genes, including IL2RA, IL7R and IL12A, are known risk factors for multiple sclerosis (MS). 21716315 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE IL7R gene polymorphisms which are associated with several autoimmune diseases have also been implicated as a genetic factor for MS following genome-wide association studies. 30443838 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE A recent genome-wide study showed three additional single-nucleotide polymorphisms (SNPs), within the IL2RA and IL7RA genes respectively, also to be associated with MS. 18401352 2008
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.500 GeneticVariation disease BEFREE Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China. 26608987 2015