DisGeNET - a database of gene-disease associations

Pseudoxanthoma Elasticum, C0033847

Variant: rs1061170 ×

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:

rs1061170

rs1061170

CFH

0.010

GeneticVariation

BEFREE

In conclusion, our data reliably show that the CFH variant c.1277T > C (p.Y402H) is not a genetic risk factor for PXE.

2008