DisGeNET - a database of gene-disease associations

Erythema, C0041834

Variant: rs61816761 ×

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:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

17030239

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

16550169

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.

16815158

2006

dbSNP:

rs61816761

FLG ; FLG-AS1

0.700

CausalMutation

CLINVAR

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

16444271

2006