Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027121
Disease: Myositis
Myositis 		0.300 Biomarker disease CTD_human Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. 18821675 2008
CUI: C0158353
Disease: Infectious Myositis
Infectious Myositis 		0.300 Biomarker disease CTD_human Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. 18821675 2008
CUI: C0544796
Disease: Myositis, Proliferative
Myositis, Proliferative 		0.300 Biomarker disease CTD_human Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. 18821675 2008
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		0.300 Biomarker disease CTD_human Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. 18821675 2008
CUI: C0751357
Disease: Myositis, Focal
Myositis, Focal 		0.300 Biomarker disease CTD_human Immunoglobulin gene polymorphisms are susceptibility factors in clinical and autoantibody subgroups of the idiopathic inflammatory myopathies. 18821675 2008
CUI: C0162539
Disease: IgG Deficiency disorder
IgG Deficiency disorder 		0.300 GermlineCausalMutation disease ORPHANET Molecular basis of selective IgG2 deficiency. The mutated membrane-bound form of gamma2 heavy chain caused complete IGG2 deficiency in two Japanese siblings. 9449702 1998
CUI: C3279824
Disease: Kappa-Chain Deficiency
Kappa-Chain Deficiency 		0.300 GermlineCausalMutation disease ORPHANET Molecular basis of selective IgG2 deficiency. The mutated membrane-bound form of gamma2 heavy chain caused complete IGG2 deficiency in two Japanese siblings. 9449702 1998
CUI: C0004096
Disease: Asthma
Asthma 		0.020 GeneticVariation disease BEFREE The dominance of the IGHG2*n allele from the IGHG*bfn haplotype (=B1-cells) has been shown in repeated investigations, namely in patients with asthma and allergy with increased serum levels of IgE > 600 ku/l and more often so in those with IgE > 1,000 ku/l or IgG4>1 g/l, in childhood asthma patients with mean level of IgE = 1,762 ku/l and in allergen exposed individuals developing laboratory animal allergy. 18213529 2008
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.020 GeneticVariation disease BEFREE The dominance of the IGHG2*n allele from the IGHG*bfn haplotype (=B1-cells) has been shown in repeated investigations, namely in patients with asthma and allergy with increased serum levels of IgE > 600 ku/l and more often so in those with IgE > 1,000 ku/l or IgG4>1 g/l, in childhood asthma patients with mean level of IgE = 1,762 ku/l and in allergen exposed individuals developing laboratory animal allergy. 18213529 2008
CUI: C0004096
Disease: Asthma
Asthma 		0.020 Biomarker disease BEFREE The results show that the IGHG3(b/b)-IGHG1(f/f)-IGHG2(n/n) genes are in linkage disequilibrium with allergen-specific high-responding IGHE genes and present the atopic phenotype of bronchial asthma, while the IGHG3(g/g)-IGHG1(a/a)-IGHG2(-n/-n) genes present the nonatopic phenotype of childhood asthma. 9531163 1998
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.020 Biomarker disease BEFREE The results show that the IGHG3(b/b)-IGHG1(f/f)-IGHG2(n/n) genes are in linkage disequilibrium with allergen-specific high-responding IGHE genes and present the atopic phenotype of bronchial asthma, while the IGHG3(g/g)-IGHG1(a/a)-IGHG2(-n/-n) genes present the nonatopic phenotype of childhood asthma. 9531163 1998
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 Biomarker disease BEFREE The opposite IGHG2*-n presents non-IgE-mediated asthma and IgG subclass deficiencies. 22573066 2012
CUI: C1279265
Disease: Laboratory animal dander allergy (disorder)
Laboratory animal dander allergy (disorder) 		0.010 GeneticVariation phenotype BEFREE The dominance of the IGHG2*n allele from the IGHG*bfn haplotype (=B1-cells) has been shown in repeated investigations, namely in patients with asthma and allergy with increased serum levels of IgE > 600 ku/l and more often so in those with IgE > 1,000 ku/l or IgG4>1 g/l, in childhood asthma patients with mean level of IgE = 1,762 ku/l and in allergen exposed individuals developing laboratory animal allergy. 18213529 2008
CUI: C0476227
Disease: pricking of skin
pricking of skin 		0.010 GeneticVariation phenotype BEFREE The IGHG*bfn haplotype (=B1 cells) and IGHG2*n allele dominated (51% vs. 24%, P=0.002) and the IGHG*bf-n haplotype (=B2 cells) was infrequent (16% vs. 52%, P < 0.001) in allergic children with a family history of allergy, clinical manifest allergy and positive skin prick test (SPT). 17177686 2006
CUI: C3714514
Disease: Infection
Infection 		0.010 GeneticVariation group LHGDN Homozygosity for the IgG2 subclass allotype G2M(n) protects against severe infection in hereditary C2 deficiency. 16785571 2006
CUI: C0035235
Disease: Respiratory Syncytial Virus Infections
Respiratory Syncytial Virus Infections 		0.010 GeneticVariation group BEFREE The homozygous IGHG2(-n/-n) genotypes dominated in hospitalized children with severe RSV infection: 55.1%, compared with 34.2% in the healthy population (OR 2.3; p = 0.004). 16092453 2005
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		0.010 Biomarker group BEFREE The alternative expressions of IGHG3(b) and (g), IGHG1(f) and (a), and IGHG2(n) and (-n) genes were studied in a cohort of 49 previously healthy children hospitalized for RSV LRTI. 16092453 2005
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		0.010 Biomarker disease BEFREE The alternative expressions of IGHG3(b) and (g), IGHG1(f) and (a), and IGHG2(n) and (-n) genes were studied in a cohort of 49 previously healthy children hospitalized for RSV LRTI. 16092453 2005