DisGeNET - a database of gene-disease associations

Ichthyosis, X-Linked, C0079588

Variant: rs137853165 ×

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:

rs137853165

STS

0.800

GeneticVariation

UNIPROT

PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.

10679952

2000

dbSNP:

rs137853165

STS

0.800

GeneticVariation

UNIPROT

Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.

10844566

2000

dbSNP:

rs137853165

STS

0.800

GeneticVariation

UNIPROT

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.

9252398

1997

dbSNP:

rs137853165

STS

0.800

GeneticVariation

UNIPROT

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

1539590

1992

dbSNP:

rs137853165

STS

0.800

CausalMutation

CLINVAR