Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.570 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.500 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker GENOMICS_ENGLAND A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. 29528531

2018
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker GENOMICS_ENGLAND Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565

2017
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker GENOMICS_ENGLAND The critical role of membralin in postnatal motor neuron survival and disease. 25977983

2015
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.430 Biomarker GENOMICS_ENGLAND Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. 23109145

2012
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker GENOMICS_ENGLAND The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. 29691679

2018
Entrez Id: 113612
Gene Symbol: CYP2U1
CYP2U1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.350 Biomarker GENOMICS_ENGLAND Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. 23176821

2012
Entrez Id: 51271
Gene Symbol: UBAP1
UBAP1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 Biomarker GENOMICS_ENGLAND Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. 30929741

2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.340 Biomarker GENOMICS_ENGLAND Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969

1995
Entrez Id: 80821
Gene Symbol: DDHD1
DDHD1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.330 Biomarker GENOMICS_ENGLAND Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). 15786464

2005
Entrez Id: 10613
Gene Symbol: ERLIN1
ERLIN1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.320 Biomarker GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
Entrez Id: 10613
Gene Symbol: ERLIN1
ERLIN1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.320 Biomarker GENOMICS_ENGLAND Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.310 Biomarker GENOMICS_ENGLAND Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia. 23664929

2013
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.310 Biomarker GENOMICS_ENGLAND Phenotypes of female adrenoleukodystrophy. 17372139

2007