Disease: Channelopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.010 GeneticVariation disease BEFREE We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel Na<sub>V</sub>1.3. 30146301 2018