DisGeNET - a database of gene-disease associations

ZEB1, zinc finger E-box binding homeobox 1, 6935

N. diseases: 310; N. variants: 16

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:

rs118020901

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs118020901

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.800

GeneticVariation

UNIPROT

dbSNP:

rs779148597

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

25190660

2014

dbSNP:

rs781750314

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

25190660

2014

dbSNP:

rs78449005

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.

25190660

2014

dbSNP:

rs779148597

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

23599324

2013

dbSNP:

rs781750314

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

23599324

2013

dbSNP:

rs78449005

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

23599324

2013

dbSNP:

rs779148597

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

20036349

2010

dbSNP:

rs781750314

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

20036349

2010

dbSNP:

rs78449005

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

20036349

2010

dbSNP:

rs1057518956

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0017601
Disease:

Glaucoma

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518956

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C3665386
Disease:

Abnormal vision

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518956

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0339284
Disease:

Polymorphous corneal dystrophy

0.700

CausalMutation

CLINVAR

dbSNP:

rs199944415

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs567252241

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs766305306

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0010036
Disease:

Corneal dystrophy

0.700

CausalMutation

CLINVAR

dbSNP:

rs80194531

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C2750448
Disease:

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1285547057

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.010

GeneticVariation

BEFREE

Diverse and cancer type‑specific roles of the p53 R248Q gain‑of‑function mutation in cancer migration and invasiveness.

30968154

2019

dbSNP:

rs1285547057

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

Diverse and cancer type‑specific roles of the p53 R248Q gain‑of‑function mutation in cancer migration and invasiveness.

30968154

2019

dbSNP:

rs1327135247

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0271287
Disease:

Schnyder crystalline corneal dystrophy

0.010

GeneticVariation

BEFREE

The sister of the proband carried c.569T>C in UBIAD1 and had corneal crystal deposition in her anterior stroma consistent with the diagnosis of Schnyder corneal dystrophy.

30950897

2019

dbSNP:

rs754854286

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0153690
Disease:

Secondary malignant neoplasm of bone

0.010

GeneticVariation

BEFREE

Overexpression of miR-205 reduced the bone metastasis of MCF7/TG2-C277S cells that express transamidase-activity deficient TG2 and inhibits the invasiveness of MDA-MB-231 breast cancer cells that express TG2.

30949413

2019

dbSNP:

rs754854286

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0005967
Disease:

Bone neoplasms

0.010

GeneticVariation

BEFREE

Bioluminescent imaging showed that intracardiac injection of MCF7/TG2-C277S cells in mice promoted bone tumors, especially in the knee and jaw, but MCF7/TG2-C277S cells ectopically expressing miR-205 did not metastasize.

30949413

2019

dbSNP:

rs754854286

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C0027627
Disease:

Neoplasm Metastasis

0.010

GeneticVariation

BEFREE

30949413

2019

dbSNP:

rs1431090090

Entrez Id:	6935
Gene Symbol:	ZEB1

ZEB1

CUI:	C1269955
Disease:

Tumor Cell Invasion

0.010

GeneticVariation

BEFREE

Functionally, GATA3-acetylation mimics K119Q mutant was found to inhibit lung adenocarcinoma cell migration and invasion with concomitant downregulation of EMT-controlling transcriptional factors Slug, Zeb1 and Zeb2.

29453984

2018