Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND The presence of lower motor neuron dysfunction in a subgroup of SPG4 patients suggests that the cellular dysfunction in SPG4 extends beyond the axonal projections of upper motor neurons and ascending sensory pathways. 16832076

2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 16240363

2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.460 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.460 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.300 Biomarker GENOMICS_ENGLAND Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017