Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 GeneticVariation BEFREE SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692

2013
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 GeneticVariation BEFREE The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases. 11549317

2001
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 Biomarker CTD_human The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases. 11549317

2001
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 GeneticVariation BEFREE Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427

1998
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 CausalMutation CLINVAR

Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 Biomarker HPO

Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker BEFREE This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035

2018
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker GENOMICS_ENGLAND This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035

2018
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.410 Biomarker HPO

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.400 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.400 Biomarker GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288

2016
Entrez Id: 57599
Gene Symbol: WDR48
WDR48
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.400 Biomarker GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
Entrez Id: 57599
Gene Symbol: WDR48
WDR48
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.400 Biomarker HPO

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.400 Biomarker HPO

Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 GeneticVariation BEFREE The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease. 26423925

2015
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease. 26423925

2015
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease. 26423925

2015
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 GeneticVariation BEFREE Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565

2014
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND [Hereditary spastic paraplegia: up to date]. 25519960

2014
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy. 25519961

2014
Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND We also identified the mutation of the LYST gene, that is causative gene for Chediak-Higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy. 25519961

2014
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284

2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284

2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.310 Biomarker BEFREE Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). 11160968

2001
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.300 Biomarker GENOMICS_ENGLAND Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029

2015