Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel. 8663992 1996
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation phenotype CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581 2005