ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
0.300 Biomarker group GENOMICS_ENGLAND De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 30827498 2019