DisGeNET - a database of gene-disease associations

TGFBI, transforming growth factor beta induced, 7045

N. diseases: 225; N. variants: 25

Disease: Corneal dystrophy, epithelial basement membrane ×

Variant: rs121909217 ×

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:

rs121909217

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C0521723
Disease:

Corneal dystrophy, epithelial basement membrane

0.800

GeneticVariation

UNIPROT

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

16652336

2006

dbSNP:

rs121909217

Entrez Id:	7045
Gene Symbol:	TGFBI

TGFBI

CUI:	C0521723
Disease:

Corneal dystrophy, epithelial basement membrane

0.800

CausalMutation

CLINVAR