Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker GENOMICS_ENGLAND The identification of a larger number of THAP1 mutations and collection of high-quality clinical information for each described mutation through international collaborative effort will help investigating the structure-function and genotype-phenotype correlations in DYT6 dystonia. 21793105

2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.600 Biomarker GENOMICS_ENGLAND The identification of a larger number of THAP1 mutations and collection of high-quality clinical information for each described mutation through international collaborative effort will help investigating the structure-function and genotype-phenotype correlations in DYT6 dystonia. 21793105

2011