DisGeNET - a database of gene-disease associations

TGFBI, transforming growth factor beta induced, 7045

N. diseases: 225; N. variants: 25

Disease: Lattice corneal dystrophy Type I ×

Variant: rs121909215 ×

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:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.

16541014

2006

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

17013691

2006

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

15623763

2005

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I.

15838722

2005

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.

15531312

2004

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.

14597039

2003

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.

11413411

2001

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.

10837380

2000

dbSNP:

rs121909215

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.700

GeneticVariation

UNIPROT

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

9799082

1998