Gene table of KCNT1 : potassium sodium-activated channel subfamily T member 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KCNT1	OMIM link	Number of associated genes	genes
PS600513	EPILEPSY, NOCTURNAL FRONTAL LOBE	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SPAG1, CHRNA2, CHRNB2, KCNT1, CHRNA4
PS607596	PONTOCEREBELLAR HYPOPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	13	AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
potassium channel activity	GO:0005267	4.94
cation channel activity	GO:0005261	4.04
calcium activated cation channel activity	GO:0005227	6.41
substrate-specific channel activity	GO:0022838	3.67
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
voltage-gated cation channel activity	GO:0022843	4.83
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
voltage-gated potassium channel activity	GO:0005249	5.24
ion gated channel activity	GO:0022839	5.98
voltage-gated ion channel activity	GO:0005244	4.49
potassium ion transmembrane transporter activity	GO:0015079	4.77
calcium-activated potassium channel activity	GO:0015269	6.91