DisGeNET - a database of gene-disease associations

TGFBI, transforming growth factor beta induced, 7045

N. diseases: 200; N. variants: 19

Disease: Epithelial basement membrane dystrophy ×

Variant: rs121909215 ×

Source: BEFREE ×

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:	C0271285
Disease:

Epithelial basement membrane dystrophy

0.010

GeneticVariation

BEFREE

Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy.

27737463

2016