KIF21A, kinesin family member 21A, 55605

N. diseases: 48; N. variants: 8
Disease: Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. 17511870 2007
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. 16157808 2005
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 15621876 2004
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. 15621877 2004
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 15223798 2004
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.060 GeneticVariation phenotype LHGDN Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 14595441 2003