Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57582
Gene name	Potassium sodium-activated channel subfamily T member 1
Gene symbol	KCNT1
Synonyms (NCBI Gene)	DEE14EIEE14ENFL5KCa4.1KNa1.1SLACKSlo2.2bA100C15.2
Chromosome	9
Chromosome location	9q34.3
Summary	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, e

Show/Hide all (64)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139076605	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs140367649	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs141281093	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142424896	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142756900	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143355299	A>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs143536408	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143678590	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs144766991	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs147306623	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147551342	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, initiator codon variant, coding sequence variant
rs199996353	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200173000	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Missense variant, coding sequence variant
rs200910140	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201156458	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201908490	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369983077	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370046449	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs370155559	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370521183	C>A,G,T	Likely-benign, pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs370580872	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371135108	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs374975940	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397515403	G>A	Pathogenic	Missense variant, coding sequence variant
rs397515405	C>T	Pathogenic	Missense variant, coding sequence variant
rs397515406	T>C	Pathogenic	Missense variant, coding sequence variant
rs397515407	G>A	Pathogenic	Missense variant, coding sequence variant
rs545094921	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs558966732	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant, 5 prime UTR variant, synonymous variant
rs587777264	G>A	Pathogenic	Missense variant, coding sequence variant
rs747317425	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs752032951	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant
rs752453368	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs752514808	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs757811625	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs761045901	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769406687	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs773575309	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs774588571	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs780875110	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796214553	AG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs797044544	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs866242631	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs886039397	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041691	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886044717	T>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1023136319	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518066	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519544	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522914	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522923	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522978	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060503696	T>G	Pathogenic	Coding sequence variant, missense variant
rs1064794752	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795013	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1193627908	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554771469	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554771476	C>G	Pathogenic	Coding sequence variant, missense variant
rs1554774322	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554774362	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778082	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564367605	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1588344733	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1588359968	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments
MIRT1082467	hsa-miR-1343	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082471	hsa-miR-3136-3p	CLIP-seq
MIRT1082472	hsa-miR-3186-3p	CLIP-seq
MIRT1082473	hsa-miR-342-3p	CLIP-seq
MIRT1082474	hsa-miR-3667-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082477	hsa-miR-4268	CLIP-seq
MIRT1082478	hsa-miR-4283	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082482	hsa-miR-4508	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082484	hsa-miR-4691-5p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082488	hsa-miR-644	CLIP-seq
MIRT1082489	hsa-miR-663b	CLIP-seq
MIRT1082490	hsa-miR-744	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT2020528	hsa-miR-361-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq
MIRT1082468	hsa-miR-218	CLIP-seq
MIRT1082469	hsa-miR-219-2-3p	CLIP-seq
MIRT1082470	hsa-miR-2964a-3p	CLIP-seq
MIRT1082475	hsa-miR-3929	CLIP-seq
MIRT1082476	hsa-miR-3977	CLIP-seq
MIRT1082479	hsa-miR-4419b	CLIP-seq
MIRT1082480	hsa-miR-4457	CLIP-seq
MIRT1082481	hsa-miR-4478	CLIP-seq
MIRT1082483	hsa-miR-4680-3p	CLIP-seq
MIRT1082485	hsa-miR-485-5p	CLIP-seq
MIRT1082486	hsa-miR-513b	CLIP-seq
MIRT1082487	hsa-miR-636	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IBA
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IDA	37494189
GO:0005228	Function	Intracellular sodium-activated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IDA	37494189
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	37494189
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
608167	18865	ENSG00000107147

Q5JUK3

Protein name

Potassium channel subfamily T member 1 (KCa4.1) (KNa1.1) (Sodium and chloride-activated ATP-sensitive potassium channel Slo2.2)

Protein function

Sodium-activated K(+) channel (PubMed:37494189). Acts as an important mediator of neuronal membrane excitability (PubMed:37494189). Contributes to the delayed outward currents (By similarity). Regulates neuronal bursting in sensory neurons (By s

PDB

8HIR , 8HK6 , 8HKF , 8HKK , 8HKM , 8HKQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07885	Ion_trans_2	253 → 335	Ion channel	Family
PF03493	BK_channel_a	477 → 579	Calcium-activated BK potassium channel alpha subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed:10718198}.

Sequence

MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSL
DSSLSQVQVEFYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDP
ALGIGCWGCPKQNYSFNDSSSEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSY
KGNIWEQIFRVSFVLEMINTLPFIITIFWPPLRNLFIPVFLNCWLAKHALENMINDFHRA
ILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENLSLLTSFYFCIVTFSTVGYGD
VTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQTEKHVVLCVS
SLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD
QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFH
VKFADHVVCEEECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGN
EVYHIRMGDSKFFREYEGKSFTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAAS
DTCFYINITKEENSAFIFKQEEKRKKRAFSGQGLHEGPARLPVHSIIASMGTVAMDLQGT
EHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADSSALLPCDLLSDQSEDEVTPS
DDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNSYEDAKAYGFK
NKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM
EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITT
ELTHPSNMRFMQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLL
YQSFVKDYMITITRLLLGLDTTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIG
IYRTESHVFSTSESQISVNVEDCEDTREVKGPWGSRAGTGGSSQGRHTGGGDPAEHPLLR
RKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSERQELSELVKNRMKHLGLPTTG
YEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDIVYLIRSDPLA
HVASSSQSRKSSCSHKLSSCNPETRDETQL

Sequence length

1230

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nocturnal frontal lobe epilepsy 1	Likely pathogenic; Pathogenic	rs1424788778	RCV005249026	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy 5	Pathogenic; Likely pathogenic	rs587777264, rs397515403, rs1832838063, rs1060503696, rs150395210, rs1057518066, rs797044544, rs2490945732, rs2491046518, rs1554771476, rs866242631, rs886041691, rs2491046098, rs752514808, rs1057522978 View all (19 more)	RCV000627792 RCV002036798 RCV001911757 RCV001953798 RCV001953800 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Childhood-onset epilepsy syndrome	Likely pathogenic; Pathogenic	rs397515407	RCV006257258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 14	Likely pathogenic; Pathogenic	rs1554774322, rs143780942, rs587777264, rs2131497737, rs397515403, rs1832838063, rs1060503696, rs150395210, rs1057518066, rs1306973135, rs2490945732, rs2491046518, rs1554771476, rs2491023589, rs866242631 View all (29 more)	RCV001775325 RCV001797003 RCV000114361 RCV003314020 RCV002036798 View all (46 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 15	Likely pathogenic; Pathogenic	rs397515404	RCV004018702	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs587777264	RCV005625288	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy syndrome	Likely pathogenic; Pathogenic	rs397515407	RCV001375627	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNT1-related channelopathy	Likely pathogenic; Pathogenic	rs2131497737	RCV001822988	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNT1-related disorder	Likely pathogenic; Pathogenic	rs397515404, rs397515407, rs1564354299, rs775807509	RCV003390714 RCV003398586 RCV003420198 RCV003953579	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant migrating partial seizures of infancy	Likely pathogenic; Pathogenic	rs886041691, rs1057519544, rs1424788778	RCV000417014 RCV000416995 RCV001290124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2131553093	RCV002274346	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs397515403, rs1272987725, rs397515404, rs397515405, rs397515407	RCV002280205 RCV002251705 RCV002274887 RCV004577943 RCV004576914	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy 97	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, FRONTAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (90)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amygdalo-Hippocampal Epilepsy	Amygdalo-Hippocampal Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28119399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	26122718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36457109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	23086396, 23429546, 24279416, 26122718, 26740507		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	ORPHANET_DG	23086396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nocturnal frontal lobe epilepsy	Nocturnal Epilepsy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal frontal lobe epilepsy	Pubtator	24279416, 26122718, 26140313	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Focal Epilepsy, Childhood	Focal Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Occipital Epilepsy	Benign Occipital Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24120652, 26140313, 29186148, 31350261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	25339316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31532509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Benign Occipital Epilepsy	Benign Occipital Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37697770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	23929658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28987752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	37697770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	24120652	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	23086397		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Digestive Epilepsy	Digestive Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	31560846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	31560846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	26122718, 26140313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27578169, 30804880, 31560846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	29314583, 31532509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	26122718, 40261684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	CTD_human_DG	23086397		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsies, Partial	Epilepsy	BEFREE	25194487, 26122718, 29455050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	23429546, 24120652, 24279416, 25194487, 25482562, 26022171, 26122718, 26369628, 26725113, 26740507, 28987752, 29542386, 30182418, 30525185, 30782581, 31054119, 31532509 View all (2 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	24120652, 26369628, 26802095, 30847371, 30977854, 31054119, 31350261, 31532509, 31653631, 32167590, 34153113, 36279596, 36499459, 37095367, 37697770, 39950246, 40261684 View all (2 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Generalized	Generalized epilepsy	Pubtator	24279416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Nocturnal Frontal Lobe Type 1	Nocturnal frontal lobe epilepsy	Pubtator	26122718, 31653631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Anterior Fronto-Polar	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Cingulate	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Frontal Lobe	Epilepsy	CTD_human_DG	23086396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Frontal Lobe	Epilepsy	BEFREE	31653631		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	24279416		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	Epilepsy	UNIPROT_DG	23086396		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	Epilepsy	CLINVAR_DG	23086396, 23086397, 24029078, 24591078, 25326637, 25482562, 25590979, 26122718, 26140313, 26269628, 26369628, 26597493, 26648591, 26740507, 26993267 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	Epilepsy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5	Epilepsy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Opercular	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Orbito-Frontal	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Simple Partial	Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Supplementary Motor	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26122718, 26140313, 26740507, 26784557		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	26140313, 37867425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14	Epileptic encephalopathy	CLINVAR_DG	23086396, 23086397, 24029078, 24591078, 25326637, 25482562, 25590979, 26122718, 26140313, 26269628, 26369628, 26597493, 26648591, 26740507, 26993267 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14	Epileptic encephalopathy	UNIPROT_DG	23086397, 23708187, 24029078, 24463883, 26993267, 27864847		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	27730449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal Epilepsy, Benign, Childhood	Epilepsy	CTD_human_DG	23086396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gelastic Epilepsy	Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26122718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28987752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23929658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Leukoencephalopathy	BEFREE	24120652, 28366665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	30847371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant migrating focal seizures of infancy	Malignant migrating partial seizures of infancy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	31532509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	CLINGEN_DG	10196543, 12628167, 17884929, 23086397, 24079078, 24309898, 24463883, 24591078, 2548562, 26369628, 26587966, 26725113, 26784557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	24029078, 26140313, 26784557, 26785903, 28987752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	31560846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	31560846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Lobe Epilepsy	Histiocytic medullary reticulosis	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panayiotopoulos Syndrome	Panayiotopoulos Syndrome	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	31532509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinencephalic Epilepsy	Rhinencephalic Epilepsy	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24279416, 26122718, 26140313, 26369628, 29314583, 31350261, 31532509, 31618474, 31653631, 32167590, 35537242, 35715422, 36279596, 37697770, 40261684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	23599387, 26140313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	31560846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subclinical Seizure	Subclinical Seizure	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uncinate Seizures	Seizure	CTD_human_DG	23086397		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26140313		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26122718, 26140313, 28366665, 31560846		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNT1 (potassium sodium-activated channel subfamily T member 1)