ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE Consistent with the results from previous studies on transgenic mice that expressed mutant Atrophin-1 with 65 glutamines, Atro-118Q mice exhibited several neurodegenerative phenotypes that are commonly seen in DRPLA patients, including ataxia, tremors, and other motor defects. 16407196 2006
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype BEFREE Transgenic mice expressing full-length human atrophin-1 with 65 consecutive glutamines exhibit ataxia, tremors, abnormal movements, seizures, and premature death. 10677044 1999
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO