Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. 30171196

2018
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Complexity of vitamin E metabolism. 26981194

2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2395
Gene Symbol: FXN
FXN
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.360 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016