| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | Genetic and phenotypic characterization of complex hereditary spastic paraplegia. | 27217339 | 2016 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. | 24117163 | 2014 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. | 23812641 | 2013 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. | 22384504 | 2012 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. | 21623769 | 2011 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR | CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. | 19439420 | 2009 | |||||
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | ||||||||
Spastic Paraplegia, Hereditary
|
0.710 | CausalMutation | CLINVAR | Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. | 28832565 | 2017 | |||||
Spastic Paraplegia, Hereditary
|
0.710 | GeneticVariation | BEFREE | Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). | 27879216 | 2016 | |||||
Spastic Paraplegia
|
0.700 | CausalMutation | CLINVAR | CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. | 24117163 | 2014 | |||||
Spastic Paraplegia
|
0.700 | CausalMutation | CLINVAR | Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. | 23812641 | 2013 | |||||
Spastic Paraplegia
|
0.700 | CausalMutation | CLINVAR | Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. | 21541746 | 2012 | |||||
Spastic Paraplegia
|
0.700 | CausalMutation | CLINVAR | Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. | 21623769 | 2011 | |||||
Spastic Paraplegia
|
0.700 | CausalMutation | CLINVAR | CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. | 19439420 | 2009 |