Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.430 GeneticVariation disease 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 		0.430 GeneticVariation disease 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 		0.430 Biomarker disease 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 		0.430 GeneticVariation disease 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 		0.430 CausalMutation disease CLINVAR
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.430 Biomarker disease HPO
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1 		0.410 Biomarker disease 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 		0.410 Biomarker disease 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 		0.410 Biomarker disease HPO
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease 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 		0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
Entrez Id: 57599
Gene Symbol: WDR48
WDR48 		0.400 Biomarker disease HPO
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease HPO
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.310 GeneticVariation disease 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 		0.310 Biomarker disease 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 		0.310 GeneticVariation disease BEFREE Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565 2014
Entrez Id: 1130
Gene Symbol: LYST
LYST 		0.310 Biomarker disease GENOMICS_ENGLAND [Hereditary spastic paraplegia: up to date]. 25519960 2014
Entrez Id: 1130
Gene Symbol: LYST
LYST 		0.310 Biomarker disease 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 		0.310 Biomarker disease 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 		0.310 Biomarker disease BEFREE Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). 11160968 2001
Entrez Id: 57531
Gene Symbol: HACE1
HACE1 		0.300 Biomarker disease GENOMICS_ENGLAND Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
Entrez Id: 25782
Gene Symbol: RAB3GAP2
RAB3GAP2 		0.300 Biomarker disease GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 Biomarker disease BEFREE Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (SPG) patients (SPG4 and SPG11) in vitro. 29980238 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. 30476002 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. 28778789 2017