KIF21A, kinesin family member 21A, 55605

N. diseases: 48; N. variants: 8
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912585
rs121912585
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
CUI: C1851102
Disease:
Fibrosis Of Extraocular Muscles, Congenital, 1 		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: rs121912585
rs121912585
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
CUI: C1851102
Disease:
Fibrosis Of Extraocular Muscles, Congenital, 1 		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: rs121912585
rs121912585
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
CUI: C1851102
Disease:
Fibrosis Of Extraocular Muscles, Congenital, 1 		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: rs121912585
rs121912585
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
CUI: C1851102
Disease:
Fibrosis Of Extraocular Muscles, Congenital, 1 		0.800 GeneticVariation UNIPROT Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 14595441 2003
dbSNP: rs121912585
rs121912585
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
CUI: C1851102
Disease:
Fibrosis Of Extraocular Muscles, Congenital, 1 		A 0.800 CausalMutation CLINVAR