NUP205, nucleoporin 205, 23165

N. diseases: 20; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312984
rs869312984
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C4225165
Disease:
NEPHROTIC SYNDROME, TYPE 13
0.800 GeneticVariation UNIPROT Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
dbSNP: rs4294134
rs4294134
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C0029401
Disease:
Osteitis Deformans
G 0.800 GeneticVariation GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
dbSNP: rs4294134
rs4294134
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C0029401
Disease:
Osteitis Deformans
G 0.800 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
dbSNP: rs869312984
rs869312984
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C4225165
Disease:
NEPHROTIC SYNDROME, TYPE 13
C 0.800 CausalMutation CLINVAR
dbSNP: rs12530805
rs12530805
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4728358
rs4728358
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4732134
rs4732134
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs150498874
rs150498874
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C1861172
Disease:
Venous Thromboembolism
T 0.700 GeneticVariation GWASCAT Identification of unique venous thromboembolism-susceptibility variants in African-Americans. 28203683 2017
dbSNP: rs12530845
rs12530845
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs12530845
rs12530845
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs4294134
rs4294134
Entrez Id: 23165
Gene Symbol: NUP205
NUP205
CUI: C1368019
Disease:
Paget Disease
G 0.700 GeneticVariation GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011