Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. 12163196 2002
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.500 GeneticVariation disease BEFREE A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C 		0.020 GeneticVariation disease BEFREE A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002
Entrez Id: 3799
Gene Symbol: KIF5B
KIF5B 		0.020 GeneticVariation disease BEFREE A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. 12490534 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. 12676568 2003
Entrez Id: 2395
Gene Symbol: FXN
FXN 		0.050 GeneticVariation disease BEFREE Moreover, mitochondrial dysfunction plays an important role in the pathophysiology of several well established nuclear genetic disorders, such as dominant optic atrophy (mutations in OPA1), Friedreich's ataxia (FRDA), hereditary spastic paraplegia (SPG7), and Wilson's disease (ATP7B). 12933917 2003
Entrez Id: 51324
Gene Symbol: SPG21
SPG21 		0.020 GeneticVariation disease BEFREE Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. 14564668 2003
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease LHGDN SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. 14607301 2003
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 GeneticVariation disease BEFREE Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). 14623864 2003
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.300 Biomarker disease CTD_human Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene. 14681884 2003
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK 		0.010 GeneticVariation disease BEFREE A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05. 14681889 2003
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 Biomarker disease MGD Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. 14722615 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE To investigate the Chinese patients with hereditary spastic paraplegia for mutations in SPG4. 14732620 2004
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.400 GeneticVariation disease BEFREE Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). 14732628 2004
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 GeneticVariation disease BEFREE A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 14985266 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. 15210521 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095 2004
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.100 Biomarker disease BEFREE This study was conducted to investigate the clinical features of hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). 15265372 2004
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.400 GeneticVariation disease BEFREE In humans, mutations in the mitochondrial protein, Paraplegin, cause an autosomal form of hereditary spastic paraplegia with an enhanced sensitivity to oxidative stress. 15358091 2004
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.500 GeneticVariation disease LHGDN Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 15452312 2004
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.400 GeneticVariation disease BEFREE Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. 15477516 2004