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: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium. 23047821 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASCAT Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study of early menopause and the combined impact of identified variants. 23307926 2013
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 GeneticVariation disease BEFREE Methods We screened for mutations in the coding and promoter regions of genes in the TNF-LTA region, including BAT1, NFKBIL1, LTA, TNF, LTB, AIF, and BAT2, and conducted a transmission disequilibrium test of 41 polymorphisms in 137 families identified through pro-bands with childhood-onset atopic asthma. 15969671 2005
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		0.010 Biomarker disease BEFREE We aimed to investigate if genetic variants of human lymphocyte antigen (HLA)-BAT2, 3, and 5 (BAT2, 3, and 5) could be used as markers of susceptibility in KD and CAA. 20626023 2010
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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation disease BEFREE We identified three low-frequency missense variants in BAT2 (rs9469031, c.1544C>T [p.Pro515Leu]; odds ratio [OR] = 0.55, p = 1.28 × 10(-10)), FKBPL (rs200847762, c.410C>T [p.Pro137Leu]; OR = 0.25, p = 9.79 × 10(-12)), and BPIFB1 (rs6141383, c.850G>A [p.Val284Met]; OR = 1.72, p = 1.79 × 10(-7)); these variants were associated with lung cancer risk. rs9469031 in BAT2 and rs6141383 in BPIFB1 were also associated with the age of onset of lung cancer (p = 0.001 and 0.006, respectively). 25937444 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 GeneticVariation group BEFREE In white CHS participants, the prespecified risk alleles of 7 of the 74 SNPs (in HPS1, ITGAE, ABCG2, MYH15, FSTL4, CALM1, and BAT2) were nominally associated with increased risk of stroke (one-sided P<0.05, false discovery rate=0.42). 19023099 2009
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: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium. 23047821 2012
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 GeneticVariation disease BEFREE An analysis of 2,162 case-controls demonstrated the first evidence of association between a BAT2 polymorphism (rs1046089) and severe malaria. 19039607 2009
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: 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Single nucleotide polymorphism rs2260000 within BAT2 was significantly associated with type 2 diabetes after adjusting for body mass index and waist circumference (P = 1.04×10(-2)). 25093408 2014
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
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
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: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE No significant differences were noted in the genotype distributions for AGTR1, PRRC2A, and CALCA polymorphisms in patients with hypertension (N = 500) and healthy controls (N = 506). 24338417 2013