Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.800 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.800 Biomarker GENOMICS_ENGLAND Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. 1897530

1991
Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C0086543
Disease: Cataract
Cataract 		0.420 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2592
Gene Symbol: GALT
GALT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016