Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948

2018
dbSNP: rs61755320
rs61755320
SPG7
0.720 GeneticVariation BEFREE Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. 26506339

2015
dbSNP: rs116171274
rs116171274
CYP7B1
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
dbSNP: rs121908613
rs121908613
CYP7B1
0.710 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5). 27879220

2016
dbSNP: rs66468541
rs66468541
HSPD1
0.020 GeneticVariation BEFREE We have previously reported the association of a mutation (c.292G > A/p.V98I) in the human HSPD1 gene that encodes the mitochondrial Hsp60 chaperonin with a dominantly inherited form of hereditary spastic paraplegia. 18400758

2008
dbSNP: rs66468541
rs66468541
HSPD1
0.020 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs1265011107
rs1265011107
WDTC1
0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs1313275799
rs1313275799
AP4E1
0.010 GeneticVariation BEFREE A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease. 23472171

2013
dbSNP: rs1331686243
rs1331686243
NIPA1
0.010 GeneticVariation BEFREE Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. 16795073

2006
dbSNP: rs1377512692
rs1377512692
APP
0.010 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948

2018
dbSNP: rs367916692
rs367916692
CYP7B1
0.010 GeneticVariation BEFREE The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. 24658845

2014
dbSNP: rs372702043
rs372702043
APP
0.010 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948

2018
dbSNP: rs537742207
rs537742207
MDH2
0.010 GeneticVariation BEFREE An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia. 31444388

2019
dbSNP: rs587777132
rs587777132
ALS2
0.010 GeneticVariation BEFREE Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. 24315819

2014
dbSNP: rs587777757
rs587777757
SPAST
0.010 GeneticVariation BEFREE The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. 16476945

2006
dbSNP: rs770388772
rs770388772
SPAST
0.010 GeneticVariation BEFREE The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. 16476945

2006
dbSNP: rs864622269
rs864622269
ATL1
0.010 GeneticVariation BEFREE Six patients with an SPG3A mutation (F151S, Q191R, M408T, G469A, R495W) originating from 5 unrelated families presented with a complex form of hereditary spastic paraplegia associated with a neuropathy (17%). 17502470

2007
dbSNP: rs878854991
rs878854991
SPAST
0.010 GeneticVariation BEFREE An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset. 31698101

2019
dbSNP: rs890815306
rs890815306
APP
0.010 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948

2018
dbSNP: rs897755799
rs897755799
GPT ; MFSD3 ; LOC101928953
0.010 GeneticVariation BEFREE The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5. 24658845

2014
dbSNP: rs116171274
rs116171274
CYP7B1
A 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
dbSNP: rs104894490
rs104894490
NIPA1
A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs1553316816
rs1553316816
SPAST
A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs387907288
rs387907288
KIF5A
A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
dbSNP: rs398123012
rs398123012
GBA2
A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017