DisGeNET - a database of gene-disease associations

GREB1L, GREB1 like retinoic acid receptor coactivator, 80000

N. diseases: 35; N. variants: 25

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:

rs1555654020

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1555654020

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

28739660

2017

dbSNP:

rs1555654020

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017

dbSNP:

rs1555662027

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

28739660

2017

dbSNP:

rs1555662027

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1555662027

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017

dbSNP:

rs1555662061

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

28739660

2017

dbSNP:

rs1555662061

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1555662061

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017

dbSNP:

rs1555663997

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1555663997

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017

dbSNP:

rs1555663997

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

28739660

2017

dbSNP:

rs1555664772

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

28739660

2017

dbSNP:

rs1555664772

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017

dbSNP:

rs1555664772

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1311814599

Entrez Id:	80000;101927521
Gene Symbol:	GREB1L;LOC101927521

GREB1L;LOC101927521

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1311814599

Entrez Id:	80000;101927521
Gene Symbol:	GREB1L;LOC101927521

GREB1L;LOC101927521

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555654020

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555662027

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555662061

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555663997

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs1555664772

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.800

CausalMutation

CLINVAR

dbSNP:

rs10502435

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C1281901
Disease:

Fatty acid measurement

0.700

GeneticVariation

GWASCAT

Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.

29738550

2018

dbSNP:

rs1409376788

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.700

GeneticVariation

UNIPROT

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

29100091

2017

dbSNP:

rs1409376788

Entrez Id:	80000
Gene Symbol:	GREB1L

GREB1L

CUI:	C4540497
Disease:

RENAL HYPODYSPLASIA/APLASIA 3

0.700

GeneticVariation

UNIPROT

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

29100090

2017