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: rs267607109 ×

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:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

BEFREE

We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene.

28393022

2017

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

BEFREE

In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

24302499

2014

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

BEFREE

Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.

22355247

2012

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

16541014

2006

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

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:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

15623763

2005

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

15838722

2005

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

BEFREE

Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.

15111592

2004

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

15531312

2004

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

14597039

2003

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

11413411

2001

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

10837380

2000

dbSNP:

rs267607109

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C1690006
Disease:

Lattice corneal dystrophy Type I

0.740

GeneticVariation

UNIPROT

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

9799082

1998