DisGeNET - a database of gene-disease associations

Fibrosis Of Extraocular Muscles, Congenital, 1, C1851102

Variant: rs121912588 ×

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:

rs121912588

KIF21A

0.800

GeneticVariation

UNIPROT

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.

24715754

2014

dbSNP:

rs121912588

KIF21A

0.800

GeneticVariation

UNIPROT

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

17511870

2007

dbSNP:

rs121912588

KIF21A

0.800

GeneticVariation

UNIPROT

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.

16157808

2005

dbSNP:

rs121912588

KIF21A

0.800

GeneticVariation

UNIPROT

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

14595441

2003

dbSNP:

rs121912588

KIF21A

0.800

CausalMutation

CLINVAR