DisGeNET - a database of gene-disease associations

NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs376476266

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.800

GeneticVariation

CLINVAR

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

30179222

2018

dbSNP:

rs376476266

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.800

GeneticVariation

UNIPROT

dbSNP:

rs376476266

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.800

CausalMutation

CLINVAR

dbSNP:

rs1558091788

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.700

GeneticVariation

CLINVAR

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

30179222

2018

dbSNP:

rs1558108130

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.700

GeneticVariation

CLINVAR

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.

30179222

2018

dbSNP:

rs1558091788

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.700

CausalMutation

CLINVAR

dbSNP:

rs1558108130

Entrez Id:	55746
Gene Symbol:	NUP133

NUP133

CUI:	C4748549
Disease:

NEPHROTIC SYNDROME, TYPE 18

0.700

CausalMutation

CLINVAR