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 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
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
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: 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: 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: 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: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
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
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.100 GeneticVariation group 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: 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: 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: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		0.100 GeneticVariation group GWASDB A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). 23326239 2013