DisGeNET - a database of gene-disease associations

GGA3, golgi associated, gamma adaptin ear containing, ARF binding protein 3, 23163

N. diseases: 8; N. variants: 7

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:

rs368572297

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C4748545
Disease:

NEPHROTIC SYNDROME, TYPE 17

0.800

GeneticVariation

CLINVAR

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

30179222

2018

dbSNP:

rs368572297

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C4748545
Disease:

NEPHROTIC SYNDROME, TYPE 17

0.800

CausalMutation

CLINVAR

dbSNP:

rs368572297

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C4748545
Disease:

NEPHROTIC SYNDROME, TYPE 17

0.800

GeneticVariation

UNIPROT

dbSNP:

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

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C0205682
Disease:

Waist-Hip Ratio

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

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C4748545
Disease:

NEPHROTIC SYNDROME, TYPE 17

0.700

GeneticVariation

CLINVAR

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

30179222

2018

dbSNP:

rs1321552081

Entrez Id:	23163;79902
Gene Symbol:	GGA3;NUP85

GGA3;NUP85

CUI:	C4748545
Disease:

NEPHROTIC SYNDROME, TYPE 17

0.700

CausalMutation

CLINVAR

dbSNP:

rs776324450

Entrez Id:	23163
Gene Symbol:	GGA3

GGA3

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

GeneticVariation

UNIPROT

dbSNP:

rs78338345

Entrez Id:	23163
Gene Symbol:	GGA3

GGA3

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.010

GeneticVariation

BEFREE

Of the three SNPs, rs6414624 in EVC and rs78338345 in GGA3 were novel susceptibility loci for T2DM.

29273463

2019

dbSNP:

rs78338345

Entrez Id:	23163
Gene Symbol:	GGA3

GGA3

CUI:	C0242339
Disease:

Dyslipidemias

0.010

GeneticVariation

BEFREE

Our evolutionary analyses suggest that derived alleles of rs78338345 of GGA3, rs7656604 at 4q13.3, rs34902660 of SLC17A3, and six SNPs closely located at 12q24.1 associated with type 2 diabetes mellitus, obesity, dyslipidemia, and three complex disorders (hypertension, hyperuricemia, and dyslipidemia), respectively, rapidly expanded after the human dispersion from Africa (Out-of-Africa).

31402603

2019

dbSNP:

rs52809447

Entrez Id:	23163
Gene Symbol:	GGA3

GGA3

CUI:	C0595921
Disease:

Intraocular pressure disorder

0.010

GeneticVariation

BEFREE

Intraocular pressure was suggestively associated with novel variants located in FAR2 at 12p11.22 (rs4931170, P = 1.2 × 10(-5)), in GGA3 at 17q25.1 (rs52809447, P = 6.7 × 10(-5)), and in PKDREJ at 22q13.31 (rs7291444, P = 7.4 × 10(-5)).

25525164

2014