Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE In this study, we established in vitro motility assays with purified full-length human KIF1A and found that <i>KIF1A</i> mutations associated with the hereditary SPG lead to hyperactivation of KIF1A motility. 31455732 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. 31796088 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Multigeneration family with dominant SPG30 hereditary spastic paraplegia. 29159194 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. 28970574 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 CausalMutation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. 28834584 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Mutations in the KIF1A gene have already been associated with recessive and dominant forms of hereditary spastic paraplegia (SPG30) in a few cases. 28332297 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Therefore, our report contributes to expanding the genotypic and phenotypic spectrum of hereditary spastic paraplegia caused by mutations in KIF1A. 27034427 2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
0.380 Biomarker disease MGD