ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Notably, expression of the AnkB variant associated with seizure (AnkB p.S646F) caused further increase in intracellular Cav2.1 levels above that of even wildtype AnkB. 31477143 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO