| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. | 28708278 | 2018 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine. | 28835676 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. | 28332297 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. | 28362824 | 2017 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. | 26486474 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. | 27034427 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. | 26410750 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. | 25265257 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. | 26125038 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. | 26354034 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. | 25585697 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. | 22258533 | 2012 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | 21820098 | 2011 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. | 21376300 | 2011 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. | 21487076 | 2011 | |||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
0.700 | CausalMutation | CLINVAR | ||||||||
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
|
0.700 | GeneticVariation | CLINVAR | ||||||||
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
|
0.700 | GeneticVariation | CLINVAR | ||||||||
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
|
0.700 | GeneticVariation | CLINVAR | ||||||||
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
|
0.700 | GeneticVariation | CLINVAR |