DisGeNET - a database of gene-disease associations

Corneal Dystrophy, Lattice Type IIIA, C1837974

Variant: rs121909214 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909214

TGFBI

0.800

GeneticVariation

UNIPROT

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

15790870

2005

dbSNP:

rs121909214

TGFBI

0.800

GeneticVariation

UNIPROT

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

9497262

1998

dbSNP:

rs121909214

TGFBI

0.800

CausalMutation

CLINVAR