PML, promyelocytic leukemia, 5371

N. diseases: 274; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8039584
rs8039584
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0154778
Disease:
Myopia, Degenerative
0.700 GeneticVariation GWASCAT A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. 23049088 2012
dbSNP: rs138817062
rs138817062
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814 2019
dbSNP: rs138817062
rs138817062
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814 2019
dbSNP: rs138817062
rs138817062
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C1332977
Disease:
Childhood Leukemia
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814 2019
dbSNP: rs138817062
rs138817062
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814 2019
dbSNP: rs3784562
rs3784562
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0027051
Disease:
Myocardial Infarction
0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0005890
Disease:
Body Height
T 0.700 GeneticVariation GWASCAT Defining the role of common variation in the genomic and biological architecture of adult human height. 25282103 2014
dbSNP: rs531642849
rs531642849
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE EAAT2-D504N knock-in mutant mice were generated and crossed with SOD1-G93A mice to assess the in vivo pathogenic relevance for ALS symptoms of EAAT2 cleavage. 28342750 2017
dbSNP: rs743582
rs743582
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0334108
Disease:
Multiple polyps
0.010 GeneticVariation BEFREE Frequency of the c.2260G>C (p.Ala754Pro) variant in isoform IV of the PML gene was higher in patients with colon polyposis and cancer than in the control group (P = 0.029). 19728758 2009
dbSNP: rs743582
rs743582
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Frequency of the c.2260G>C (p.Ala754Pro) variant in isoform IV of the PML gene was higher in patients with colon polyposis and cancer than in the control group (P = 0.029). 19728758 2009
dbSNP: rs743582
rs743582
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Frequency of the c.2260G>C (p.Ala754Pro) variant in isoform IV of the PML gene was higher in patients with colon polyposis and cancer than in the control group (P = 0.029). 19728758 2009
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0029401
Disease:
Osteitis Deformans
C 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0029401
Disease:
Osteitis Deformans
C 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C1368019
Disease:
Paget Disease
C 0.700 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
dbSNP: rs743580
rs743580
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C4049938
Disease:
Physical Activity Measurement
A 0.700 GeneticVariation GWASCAT Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. 29899525 2018
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0424678
Disease:
Lean body mass
0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs743580
rs743580
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C4049938
Disease:
Physical Activity Measurement
A 0.700 GeneticVariation GWASCAT GWAS identifies 14 loci for device-measured physical activity and sleep duration. 30531941 2018
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023452
Disease:
Childhood Acute Lymphoblastic Leukemia
0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0751606
Disease:
Adult Acute Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0005890
Disease:
Body Height
T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0489786
Disease:
Height
T 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE In adult myeloid leukemias we found significant associations between the variant allele of PML_rs9479 and decreased AML risk (OR = 0.61 (0.38-0.97), and between variant alleles of IRF8_ rs10514611 and ARHGAP26_rs187729 and increased CML risk (OR = 2.4 (1.12-5.15) and 1.63 (1.07-2.47), respectively). 24886876 2014
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C1314691
Disease:
Age at menarche
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019