×
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: 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: 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
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: 6687
Gene Symbol: SPG7
SPG7
0.430
Biomarker
disease
HPO
×
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1
0.410
Biomarker
disease
HPO
×
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: 6683
Gene Symbol: SPAST
SPAST
0.200
Biomarker
disease
HPO
×
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
0.190
Biomarker
disease
HPO
×
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.180
Biomarker
disease
HPO
×
Entrez Id: 23111
Gene Symbol: SPART
SPART
0.150
Biomarker
disease
HPO
×
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1
0.140
Biomarker
disease
HPO
×
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.140
Biomarker
disease
HPO
×
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.140
Biomarker
disease
HPO
×
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
0.130
Biomarker
disease
HPO
×
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.130
Biomarker
disease
HPO
×
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
0.120
Biomarker
disease
HPO
×
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
0.120
Biomarker
disease
HPO
×
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
0.120
Biomarker
disease
HPO