DisGeNET - a database of gene-disease associations

Macular dystrophy, corneal type 1, C1636149

Variant: rs28937877 ×

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:

rs28937877

CHST6

0.800

CausalMutation

CLINVAR

Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.

26604660

2015

dbSNP:

rs28937877

CHST6

0.800

CausalMutation

CLINVAR

Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate.

11278593

2001

dbSNP:

rs28937877

CHST6

0.800

CausalMutation

CLINVAR

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

11017086

2000

dbSNP:

rs28937877

CHST6

0.800

GeneticVariation

UNIPROT