Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker GENOMICS_ENGLAND Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014