ATXN7, ataxin 7, 6314

N. diseases: 162; N. variants: 13
Disease: Cardiac Arrest ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 Biomarker disease BEFREE SCA7 is one of the rarest forms of SCA (<1/100,000 individuals). 25614072 2015
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 Biomarker disease BEFREE We analyzed 10 families with SCA (64 patients) from five different communities of Veracruz, a Mexican southeastern state, and identified 55 patients for SCA7 and 9 for SCA2, but none for SCA1, SCA3, or SCA6. 23368522 2014
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE Analysis of the SCA7 gene revealed a high number of trinucleotide repeats [(CAG)(n), n > 64], confirming the diagnosis of SCA. 23206485 2012
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 Biomarker disease BEFREE Our data suggest that the most frequent types of SCA are SCA2 and SCA7. 21418439 2011
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE We have created a new SCA-locus-specific variation database (LSVD) that aims to catalog and integrate information on SCAs associated with trinucleotide repeat expansion (SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], and dentatorubral-pallidoluysian atrophy [DRPLA]) from all over the world. 19370769 2009
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE Studies on the effect of mutant ataxin-7 on STAGA function suggest that chromatin remodeling and transcriptional alterations are key pathologic events in SCA type 7. 16911843 2006
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE We found that SCA3/MJD was the most common type of autosomal dominant SCA in Mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 (8 [6.7%]), SCA1 (7 [5.8%]), SCA6 (4 [3.3%]), SCA7 (1 [0.8%]), SCA8 (0%), SCA10 (0%), SCA12 (1 [0.8%]), SCA14 (0%), SCA17 (0%) and DRPLA (0%). 15979648 2005
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%). 15989765 2005
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.090 GeneticVariation disease BEFREE Machado-Joseph disease-SCA3 was the most common type of autosomal dominant SCA in the Taiwanese cohort, accounting for 35 cases (47.3%), followed by SCA6 (8 [10.8%]), SCA2 (8 [10.8%]), SCA1 (4 [5.4%]), SCA7 (2 [2.7%]), dentatorubropallidoluysian atrophy (1 [1.4%]), and SCA8 (0%). 11448300 2001