Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.020 AlteredExpression phenotype BEFREE LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 19339278 2009
CUI: C0013421
Disease: Dystonia
Dystonia 		0.020 Biomarker phenotype BEFREE Impaired interaction of torsinA with LULL1 and/or LAP1 may thus contribute to the development of dystonia. 19651773 2009
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.020 AlteredExpression group BEFREE LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 19339278 2009
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.020 Biomarker group BEFREE Impaired interaction of torsinA with LULL1 and/or LAP1 may thus contribute to the development of dystonia. 19651773 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE Genetic mutation/deletion of GAG from TorsonA's gene resulting in ΔE303 (which weakens the binding between TorsinA and its activator, such as LULL1) primarily cause this neurodegenerative disorder. 30042949 2018