PRRC2A, proline rich coiled-coil 2A, 7916

N. diseases: 45; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 GeneticVariation disease UNIPROT
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 GeneticVariation disease GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 GeneticVariation disease BEFREE Since the QKRAA/QRRAA epitope does not provide any risk for disease susceptibility in RA-susceptibility DRB1 epitope-negative patients, the present data suggest that the class III region haplotype D6S273 138-HSP70c-Bat2 138-TNFa2 provides an additional risk for the development of RA. 10949724 2000
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 GeneticVariation disease BEFREE The results demonstrate that two regions in MHC, class II (DRbeta1) and class III (D6S273, HSP70, Bat2, TNFa) more completely define the risk for development of RA. 10604236 1999
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 Biomarker disease BEFREE Since these associations between DRB1 genes and susceptibility to RA are incomplete, we examined the role of a CA repeat polymorphic microsatellite marker, D6S273, located between HSP70 and Bat2 genes in the class III region of MHC, in susceptibility to RA. 9820598 1998
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.130 GeneticVariation disease GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
Diabetes Mellitus, Insulin-Dependent
0.120 GeneticVariation disease BEFREE These different alleles associated with T1D were not independent and we observed linkage disequilibrium among them leading us to describe two new risk haplotypes (DQA1*0101-DQB1*0501-TNFa2b1 and DQA1*0201-DQB1*0202- BAT-2*2). 15842729 2005
Diabetes Mellitus, Insulin-Dependent
0.120 GeneticVariation disease BEFREE These results suggest that the BAT2 microsatellite polymorphism is associated with the age-at-onset of IDDM and possibly with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. 10987645 1999
Diabetes Mellitus, Insulin-Dependent
0.120 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.110 GeneticVariation disease BEFREE The allelic combination DRB1*0103/D6S273-5/BAT_2-8/TNFa11b4c1d3e3/IKBL+738(C)/MICA5.1 that includes the telomeric class III markers of the 7.1 ancestral haplotype is highly increased in patients with UC (P=0.0001, OR=10.57), especially in those with the extensive form of the disease (P=0.02, OR=3.41 extensive versus distal). 16116311 2005
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.110 GeneticVariation disease GWASDB Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. 24837172 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.110 GeneticVariation disease GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.110 Biomarker disease BEFREE In conclusions, it cannot be excluded that the BAT2/RsaI 2.7-kb band may contribute to the susceptibility to PBC, pSS, and SLE. 1672123 1991
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 Biomarker disease BEFREE With this data-driven weighting procedure the LRT detected significant signal in genes located in regions already confirmed as associated with schizophrenia - the PRRC2A (p = 1.020e-06) and the VARS2 (p = 2.383e-06) - in the Swedish schizophrenia case-control cohort of 11,040 individuals with exome-sequencing data. 28238293 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
0.100 GeneticVariation disease GWASCAT Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. 21323541 2011
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.100 GeneticVariation disease GWASDB Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. 24149102 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease GWASDB Risk alleles for multiple sclerosis identified by a genomewide study. 17660530 2007
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271 2012
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.100 GeneticVariation disease GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533 2015
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.100 GeneticVariation disease GWASCAT Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways. 29662059 2018
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.100 GeneticVariation disease GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C0028754
Disease: Obesity
Obesity
0.020 Biomarker disease BEFREE Odds ratios for obesity ranged from 1.46 (95% confidence interval (CI): 1.12, 1.92) for BAT2 to 2.16 (95% CI: 1.39, 3.37) for MC4R. 20616199 2010
CUI: C0028754
Disease: Obesity
Obesity
0.020 GeneticVariation disease BEFREE Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated with indices of adiposity and obesity risk in girls and only SEC16B rs10913469 in children at puberty (p < 0·05), while no statistical associations was found for three other variants (PCSK1rs6235, KCTD15 rs29941, BAT2 rs2844479). 23121087 2013