DisGeNET - a database of gene-disease associations

rs3743930, MEFV

N. diseases: 43

Disease: Juvenile spondyloarthropathy ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Juvenile spondyloarthropathy

CUI:	C0409676
Disease:	Juvenile spondyloarthropathy

0.010

GeneticVariation

BEFREE

One juvenile SpA patient was heterozygous for E148Q.

2018