DXO, decapping exoribonuclease, 1797

N. diseases: 7; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116420479
rs116420479
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C2239219
Disease:
von Willebrand's factor (lab test)
0.700 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
dbSNP: rs45531831
rs45531831
Entrez Id: 1589;1797;6499;8859
Gene Symbol: CYP21A2;DXO;SKIV2L;STK19
CYP21A2;DXO;SKIV2L;STK19
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs267600971
rs267600971
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0151779
Disease:
Cutaneous Melanoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs267600971
rs267600971
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0553723
Disease:
Squamous cell carcinoma of skin
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0036202
Disease:
Sarcoidosis
G 0.700 GeneticVariation GWASCAT High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences. 26651848 2016
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
G 0.700 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0023508
Disease:
White Blood Cell Count procedure
C 0.700 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
C 0.700 GeneticVariation GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.700 GeneticVariation GWASDB Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. 22899653 2012
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0026896
Disease:
Myasthenia Gravis
0.700 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271 2012
dbSNP: rs387608
rs387608
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0017665
Disease:
Membranous glomerulonephritis
C 0.700 GeneticVariation GWASCAT Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. 21323541 2011
dbSNP: rs387608
rs387608
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.700 GeneticVariation GWASDB A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
dbSNP: rs387608
rs387608
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs387608
rs387608
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
dbSNP: rs389884
rs389884
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs267600971
rs267600971
Entrez Id: 1589;1797;8859
Gene Symbol: CYP21A2;DXO;STK19
CYP21A2;DXO;STK19
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE A recurrent D89N substitution in STK19 whose alterations were identified in 25% of human melanomas represents a gain-of-function mutation that interacts better with NRAS to enhance melanocyte transformation. 30712867 2019