Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.020 Biomarker group BEFREE The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. 27312461 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.020 GeneticVariation group BEFREE De novo mutations in ATP1A3, the gene encoding the α3-subunit of Na(+),K(+)-ATPase, are associated with the neurodevelopmental disorder Alternating Hemiplegia of Childhood (AHC). 24631656 2014