DYT13, dystonia 13, torsion, 93983

N. diseases: 7; N. variants: 0
Disease: Pili torti-deafness syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 Biomarker disease BEFREE DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). 14978677 2004
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. 11921130 2002
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE A genome-wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667. 11487218 2001
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.040 GeneticVariation disease BEFREE Linkage analysis and haplotype construction allowed us to identify a novel PTD locus (DYT13) within a 22 cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 between the disease and marker D1S2667. 11261511 2001