NUP85, nucleoporin 85, 79902

N. diseases: 12; N. variants: 5
Disease: NEPHROTIC SYNDROME, TYPE 17 ×
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: 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