PRDM1, PR/SET domain 1, 639

N. diseases: 126; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6911490
rs6911490
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0009324
Disease:
Ulcerative Colitis
T 0.800 GeneticVariation GWASCAT Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs6911490
rs6911490
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0009324
Disease:
Ulcerative Colitis
T 0.800 GeneticVariation GWASDB Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
dbSNP: rs28701841
rs28701841
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0010346
Disease:
Crohn Disease
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs28701841
rs28701841
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0038013
Disease:
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs28701841
rs28701841
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs28701841
rs28701841
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0008313
Disease:
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs28701841
rs28701841
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0009324
Disease:
Ulcerative Colitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0010346
Disease:
Crohn Disease
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0038013
Disease:
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0009324
Disease:
Ulcerative Colitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0008313
Disease:
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs4946717
rs4946717
Entrez Id: 639
Gene Symbol: PRDM1
PRDM1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs1010273
rs1010273
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C1333977
Disease:
Hepatitis B Virus-Related Hepatocellular Carcinoma
0.010 GeneticVariation BEFREE PRDM1 rs1010273 polymorphism is associated with overall survival of patients with hepatitis B virus-related hepatocellular carcinoma. 31376415 2019
dbSNP: rs1010273
rs1010273
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE This study investigated PRDM1 rs1010273 and rs2185379 polymorphisms in 403 patients with chronic HBV infection (171 chronic hepatitis, 119 liver cirrhosis and 113 HCC), 70 spontaneous HBV infection resolvers and 196 healthy controls. 31376415 2019
dbSNP: rs1010273
rs1010273
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Multivariate analysis showed that PRDM1 rs1010273 polymorphism was an independent factor associated with the overall survival of patients with HCC (odds ratio, 0.529; 95% confidence interval, 0.126-0.862; p =  0.002). 31376415 2019
dbSNP: rs2185379
rs2185379
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE The results showed that the rs1010273 and rs2185379 polymorphisms had no significant differences between patients with chronic HBV infection and healthy controls or between patients with different clinical diseases. 31376415 2019
dbSNP: rs757085537
rs757085537
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C1709656
Disease:
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
0.010 GeneticVariation BEFREE Our study clearly identifies an original mutational landscape of PCLBCL-LT with a very restricted set of highly recurrent mutations (>40%) involving MYD88 (p.L265P variant), PIM1, and CD79B. 28479318 2017
dbSNP: rs1372169495
rs1372169495
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0349636
Disease:
Pre B-cell acute lymphoblastic leukemia
0.010 GeneticVariation BEFREE Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces cellular stress and cell death in normal pre-B cells and in pre-B-cell acute lymphoblastic leukemia (ALL) driven by BCR-ABL1- and NRAS(G12D) oncogenes. 24821775 2014
dbSNP: rs757085537
rs757085537
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0334633
Disease:
Malignant lymphoma - lymphoplasmacytic
0.010 GeneticVariation BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
dbSNP: rs757085537
rs757085537
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0024314
Disease:
Lymphoproliferative Disorders
0.010 GeneticVariation BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
dbSNP: rs757085537
rs757085537
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C1333296
Disease:
Activated B-cell type diffuse large B-cell lymphoma
0.010 GeneticVariation BEFREE Contrary to most cutaneous lymphomas that rarely harbor primary genetic alteration of their nodal histological equivalent, primary cutaneous large B-cell lymphoma, leg type seems to be a 'cutaneous counterpart' of activated B-cell-like diffuse large B-cell lymphoma with a similar cytogenetic profile and a high rate of MYD88 oncogenic L265P mutation. 24030746 2014
dbSNP: rs757085537
rs757085537
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0024419
Disease:
Waldenstrom Macroglobulinemia
0.010 GeneticVariation BEFREE The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma. 24143001 2014
dbSNP: rs1312391542
rs1312391542
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009
dbSNP: rs1312391542
rs1312391542
Entrez Id: 639;9474
Gene Symbol: PRDM1;ATG5
PRDM1;ATG5
CUI: C1332201
Disease:
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009