Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 GeneticVariation disease BEFREE HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type. 6538270 1984
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.030 Biomarker disease BEFREE It is probable that while interaction between certain HLA-DR3 and DR4-containing supratypes is important in conferring susceptibility to Type 1 diabetes, other manifestations of autoimmunity are associated with supratypes containing C4AQ0, and in particular the diabetogenic supratype HLA-B8-C4AQ0-C4B1-BfS-DR3. 6332753 1984
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.020 Biomarker group BEFREE It is probable that while interaction between certain HLA-DR3 and DR4-containing supratypes is important in conferring susceptibility to Type 1 diabetes, other manifestations of autoimmunity are associated with supratypes containing C4AQ0, and in particular the diabetogenic supratype HLA-B8-C4AQ0-C4B1-BfS-DR3. 6332753 1984
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type. 6538270 1984
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.030 GeneticVariation disease BEFREE The absolute risk of IDDM was approximately 0.5 in subjects who were homozygous for B18 C4A3 C4BQ0 BfF1 DR3. 3865895 1985
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		0.020 GeneticVariation group BEFREE The association of the rare C4B3 variant with microangiopathy suggests a genetic component of its aetiology. 3926068 1985
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE No significant variation in HLA, BF, C2 or GLO frequencies was found in non-insulin-dependent diabetes mellitus (NIDDM) patients, but there was a significant decrease in C4B 1 and an increase in C4B 2. 3879724 1985
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		0.010 Biomarker disease BEFREE Other C4B3 allotypes in informative families have different Ch phenotypes, and the relationships of these within extended major histocompatibility complex haplotypes are discussed in this paper. 3865894 1985
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		0.020 Biomarker group BEFREE The B3 allotype of the fourth component of complement (C4B3) is associated with microangiopathy. 3081112 1986
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.020 Biomarker disease BEFREE Two of four siblings expressed the salt-losing form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) and had identical human lymphocyte antigen (HLA) and complement C4 (fourth component of complement) types (HLA-A3,C4,B35,C4A3,C4BQO,DR1/A2,C-,B18,C4A3, C4BQO,DR6). 3007562 1986
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.020 GeneticVariation disease BEFREE Previous studies have shown that the late-onset and cryptic forms of 21-hydroxylase deficiency are highly associated with the HLA supratype HLA-B14,C4A2,C4B1/2,DR1. 3013005 1986
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		0.010 GeneticVariation disease BEFREE Previous studies have shown that the late-onset and cryptic forms of 21-hydroxylase deficiency are highly associated with the HLA supratype HLA-B14,C4A2,C4B1/2,DR1. 3013005 1986
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE Previous studies have shown that the late-onset and cryptic forms of 21-hydroxylase deficiency are highly associated with the HLA supratype HLA-B14,C4A2,C4B1/2,DR1. 3013005 1986
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 GeneticVariation disease BEFREE We were unable to confirm any association between AD and the C4B2 allele. 3502596 1987
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 Biomarker disease BEFREE Sporadic DAT appears to be associated with the complement allotype C4B2 in the major histocompatibility complex, which is linked very closely to HLA. 3331113 1987
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 Biomarker disease BEFREE A major histocompatibility complex class III allotype (C4B 2) associated with primary biliary cirrhosis (PBC). 3496684 1987
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 GeneticVariation disease BEFREE In contrast to reported findings we failed to find a significant association between C4B2 gene frequency and Alzheimer's dementia. 3350531 1988
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		0.010 Biomarker disease BEFREE There was an increased incidence of the C4B2 allotype in patients with anterior uveitis (pc less than 0.002), especially in HLA B27 positive males. 3259571 1988
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.010 Biomarker disease BEFREE There was an increased incidence of the C4B2 allotype in patients with anterior uveitis (pc less than 0.002), especially in HLA B27 positive males. 3259571 1988
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.060 GeneticVariation disease BEFREE The metabolism of the C4 allotypes C4A3,B1 and C4A3,BO was studied in five healthy control subjects and six patients with active immunological disease (five with systemic lupus erythematosus and one with rheumatoid arthritis). 2530015 1989
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.060 Biomarker disease BEFREE We describe here an Nco I restriction fragment length polymorphism of tumor necrosis factor carried by the 8.1 (HLA-A1,B8,BfS,C4AQ0,C4B1,DR3) and the 44.1 (HLA-B44,BfS,C4A3,C4BQ0,DR4) ancestral haplotypes associated with complications of rheumatoid arthritis. 2573586 1989
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.060 Biomarker disease BEFREE These data support the existence of 2 different putative susceptibility haplotypes (HLA-Bw54 or Bw59;C2C; BFS;C4A3;C4B5;DR4.1;DQw4 and C2C;BFS; C4AQ0;C4B1 or C4B2) in Japanese patients with RA. 2567598 1989
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.060 Biomarker disease BEFREE There was no statistically significant differences in C4A or C4B gene frequencies between RA and control groups, although there were trends for C4B*Q0 to be reduced and C4B2 to be increased in DR4 positive RA compared with DR4 positive controls. 2711369 1989
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 GeneticVariation disease BEFREE Additional findings in the present study were a significant reduction in the C4B*2 allele frequency, a non-significant increase in the Bf*F allele frequency and no difference for Bf or C3 phenotype frequencies in the patients with psoriasis as compared to the controls. 2613261 1989
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.010 Biomarker group BEFREE The metabolism of the C4 allotypes C4A3,B1 and C4A3,BO was studied in five healthy control subjects and six patients with active immunological disease (five with systemic lupus erythematosus and one with rheumatoid arthritis). 2530015 1989