NUP205, nucleoporin 205, 23165

N. diseases: 20; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 GeneticVariation disease UNIPROT Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 CausalMutation disease CLINVAR
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13 		0.700 Biomarker disease CTD_human
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.500 GermlineCausalMutation disease ORPHANET Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.500 Biomarker disease CTD_human Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.400 GeneticVariation disease GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.400 GeneticVariation disease GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.400 Biomarker disease CTD_human Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.120 GeneticVariation disease BEFREE Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. 30179222 2018
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.120 GeneticVariation disease BEFREE Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. 30179222 2018
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.120 Biomarker disease BEFREE Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. 26878725 2016
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.120 Biomarker disease BEFREE Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. 26878725 2016
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.120 Biomarker disease HPO
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.120 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 GeneticVariation phenotype GWASCAT Identification of unique venous thromboembolism-susceptibility variants in African-Americans. 28203683 2017
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C1368019
Disease: Paget Disease
Paget Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.100 Biomarker disease HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 Biomarker disease HPO