KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.600 GeneticVariation phenotype UNIPROT Hot-spot KIF5A mutations cause familial ALS. 29342275 2018
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.600 Biomarker phenotype GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.600 GeneticVariation phenotype UNIPROT Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 29566793 2018
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		0.600 SusceptibilityMutation phenotype CLINVAR