DisGeNET - a database of gene-disease associations

TGFBI, transforming growth factor beta induced, 7045

N. diseases: 225; N. variants: 25

Disease: Epithelial basement membrane dystrophy ×

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Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Type

Disease Class

Semantic Type

N. genes_d

N. SNPs_d

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

CUI:	C0271285
Disease:	Epithelial basement membrane dystrophy

Epithelial basement membrane dystrophy

disease

Eye Diseases; Nervous System Diseases; Cardiovascular Diseases

Disease or Syndrome

1

2

0.120

None

0.500

2

2

2004

2016