KIFAP3, kinesin associated protein 3, 22920

N. diseases: 19; N. variants: 5
Disease: Amyotrophic Lateral Sclerosis, Sporadic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1541160
rs1541160
Entrez Id: 22920
Gene Symbol: KIFAP3
KIFAP3
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.020 GeneticVariation BEFREE Recently, 5 single nucleotide polymorphisms (SNPs), rs2306677 in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2), rs1541160 in the kinesin-association protein 3 gene (KIFAP3), rs6690993 and rs6700125 in the FLJ10986 gene, and rs10260404 in the dipeptidyl-peptidase 6 gene (DPP6) have been reported to be associated with the risk of developing sporadic amyotrophic lateral sclerosis (SALS) in Caucasian populations. 22795786 2012
dbSNP: rs1541160
rs1541160
Entrez Id: 22920
Gene Symbol: KIFAP3
KIFAP3
CUI: C1862941
Disease:
Amyotrophic Lateral Sclerosis, Sporadic 		0.020 GeneticVariation BEFREE Some authors have recently reported that the CC genotype of single-nucleotide polymorphism (SNP) rs1541160 mapping within the kinesin-associated protein 3 (KIFAP3) gene is associated with increased survival in sporadic amyotrophic lateral sclerosis (sALS). 21659726 2011