NUP85, nucleoporin 85, 79902

N. diseases: 12; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368572297
rs368572297
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		T 0.800 GeneticVariation CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
dbSNP: rs368572297
rs368572297
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		T 0.800 CausalMutation CLINVAR
dbSNP: rs368572297
rs368572297
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		0.800 GeneticVariation UNIPROT
dbSNP: rs1005714
rs1005714
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C0036421
Disease:
Systemic Scleroderma 		0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
dbSNP: rs9988
rs9988
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
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: rs1321552081
rs1321552081
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		C 0.700 GeneticVariation CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
dbSNP: rs1321552081
rs1321552081
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1568070817
rs1568070817
Entrez Id: 79902
Gene Symbol: NUP85
NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17 		A 0.700 CausalMutation CLINVAR