ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Disease: Rod-Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.030 GeneticVariation disease BEFREE Two distinctive characteristics of SCA7 are the strong anticipation by which earlier onset and more severe symptoms are observed in successive generations of affected families, and the loss of visual acuity due to cone-rod dystrophy of the retina. 29427104 2018
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.030 GeneticVariation disease BEFREE This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy. 19172503 2009
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.030 Biomarker disease BEFREE Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. 11580893 2001