DYT13, dystonia 13, torsion, 93983

N. diseases: 7; N. variants: 0
Disease: Dystonia Musculorum Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.020 GeneticVariation disease BEFREE Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. 11912106 2002
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		0.020 GeneticVariation disease BEFREE Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. 11487218 2001