ATN1, atrophin 1, 1822

N. diseases: 499; N. variants: 6
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 30827498 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO