Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.380 Biomarker disease MGD
Entrez Id: 119032
Gene Symbol: BORCS7
BORCS7 		0.200 Biomarker disease MGD
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.340 Biomarker disease GENOMICS_ENGLAND Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969 1995
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		0.230 Biomarker disease MGD Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. 9616125 1998
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 CausalMutation disease CLINVAR Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427 1998
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2 		0.010 GeneticVariation disease BEFREE The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia. 9771796 1998
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 GeneticVariation disease BEFREE SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic paraplegia (HSP), a genetically heterogeneous group of neurodegenerative disorders. 10480368 1999
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1 		0.010 Biomarker disease BEFREE YME1L1 may represent a candidate gene for other forms of hereditary spastic paraplegia and possibly for other neurodegenerative disorders. 10843804 2000
Entrez Id: 2395
Gene Symbol: FXN
FXN 		0.050 Biomarker disease BEFREE Recent evidence shows that nuclear gene defects affecting mitochondrial function have a role in the pathogenesis of Friedreich's ataxia, Wilson's disease and hereditary spastic paraplegia. 10856939 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. 10980739 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. 11377972 2001
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 GeneticVariation disease BEFREE Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. 11377972 2001
Entrez Id: 2395
Gene Symbol: FXN
FXN 		0.050 Biomarker disease BEFREE This survey reports such an analysis for 15 missense mutations, one insertion and three deletions involved in Leber's hereditary optic neuropathy, Leigh syndrome, mitochondrial neurogastrointestinal encephalomyopathy, Mohr-Tranebjaerg syndrome, iron-storage disorders related to Friedreich's ataxia, and hereditary spastic paraplegia. 11423010 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN A second leaky splice-site mutation in the spastin gene. 11704932 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700 2002
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		0.260 GeneticVariation disease BEFREE Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		0.260 GeneticVariation disease LHGDN Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 51182
Gene Symbol: HSPA14
HSPA14 		0.020 GeneticVariation disease BEFREE Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 3336
Gene Symbol: HSPE1
HSPE1 		0.010 GeneticVariation disease LHGDN Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. 11898127 2002
Entrez Id: 140907
Gene Symbol: SPG19
SPG19 		0.010 GeneticVariation disease LHGDN Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 12112072 2002
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. 12112092 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. 12124993 2002
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.050 GeneticVariation disease BEFREE SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.050 GeneticVariation disease LHGDN SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. 12134148 2002