Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.400 Biomarker GENOMICS_ENGLAND Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? 28762473

2017
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.400 Biomarker GENOMICS_ENGLAND Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? 28762473

2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		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: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.310 Biomarker GENOMICS_ENGLAND Phenotypes of female adrenoleukodystrophy. 17372139

2007
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.300 Biomarker GENOMICS_ENGLAND Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 31637422

2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.300 Biomarker GENOMICS_ENGLAND Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. 31637422

2019
Entrez Id: 5833
Gene Symbol: PCYT2
PCYT2
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.300 Biomarker GENOMICS_ENGLAND Mechanism of hypertriglyceridemia in CTP:phosphoethanolamine cytidylyltransferase-deficient mice. 22764088

2012