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 CausalMutation disease CLINVAR
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 Biomarker disease HPO
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: 23204
Gene Symbol: ARL6IP1
ARL6IP1 		0.410 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: 57599
Gene Symbol: WDR48
WDR48 		0.400 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: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.400 Biomarker disease HPO
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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. 19875132 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family. 12736085 2003