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: 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: 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
dbSNP: rs5742915
rs5742915
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0005612
Disease:
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
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: rs7183908
rs7183908
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9479
rs9479
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 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: 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: rs10851869
rs10851869
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0206368
Disease:
Exfoliation Syndrome 		A 0.700 GeneticVariation GWASDB Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. 24938310 2014
dbSNP: rs1550435
rs1550435
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0206368
Disease:
Exfoliation Syndrome 		A 0.700 GeneticVariation GWASDB Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. 24938310 2014
dbSNP: rs3784556
rs3784556
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0206368
Disease:
Exfoliation Syndrome 		C 0.700 GeneticVariation GWASDB Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. 24938310 2014
dbSNP: rs3825941
rs3825941
Entrez Id: 5371
Gene Symbol: PML
PML
CUI: C0206368
Disease:
Exfoliation Syndrome 		T 0.700 GeneticVariation GWASDB Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. 24938310 2014
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: 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: 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: 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: 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: 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: 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: 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: 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