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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	348980
Gene name	Hyperpolarization activated cyclic nucleotide gated potassium channel 1
Gene symbol	HCN1
Synonyms (NCBI Gene)	BCNG-1BCNG1DEE24EIEE24GEFSP10HAC-2
Chromosome	5
Chromosome location	5p12
Summary	The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to fo

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373454105	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373664268	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs376434225	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587777491	C>G	Pathogenic	Coding sequence variant, missense variant
rs587777492	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777493	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777494	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777495	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519547	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519548	C>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521989	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1318391259	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs1554037381	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554040120	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1561081319	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561120793	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561139569	C>T	Pathogenic	Coding sequence variant, missense variant
rs1561230486	A>C	Pathogenic	Coding sequence variant, missense variant
rs1561230606	G>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT442782	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT442782	hsa-miR-4662a-5p	PAR-CLIP	22100165
MIRT1042079	hsa-miR-105	CLIP-seq
MIRT1042080	hsa-miR-1178	CLIP-seq
MIRT1042081	hsa-miR-135a	CLIP-seq
MIRT1042082	hsa-miR-135b	CLIP-seq
MIRT1042083	hsa-miR-2054	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT1042085	hsa-miR-300	CLIP-seq
MIRT1042086	hsa-miR-3119	CLIP-seq
MIRT1042087	hsa-miR-3160-5p	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT1042089	hsa-miR-3665	CLIP-seq
MIRT1042090	hsa-miR-374c	CLIP-seq
MIRT1042091	hsa-miR-381	CLIP-seq
MIRT1042092	hsa-miR-3907	CLIP-seq
MIRT1042093	hsa-miR-3924	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT1042095	hsa-miR-4495	CLIP-seq
MIRT1042096	hsa-miR-4652-3p	CLIP-seq
MIRT1042097	hsa-miR-500a	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT1042101	hsa-miR-654-3p	CLIP-seq
MIRT1042102	hsa-miR-655	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042104	hsa-miR-764	CLIP-seq
MIRT1042105	hsa-miR-885-5p	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT2008840	hsa-miR-2116	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT2008841	hsa-miR-297	CLIP-seq
MIRT2008842	hsa-miR-3616-5p	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT2008843	hsa-miR-3647-5p	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT2008844	hsa-miR-4677-5p	CLIP-seq
MIRT2008845	hsa-miR-4695-3p	CLIP-seq
MIRT2008846	hsa-miR-4742-3p	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT2008847	hsa-miR-567	CLIP-seq
MIRT2008848	hsa-miR-573	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT1042084	hsa-miR-214	CLIP-seq
MIRT1042088	hsa-miR-3619-5p	CLIP-seq
MIRT1042094	hsa-miR-4291	CLIP-seq
MIRT1042097	hsa-miR-500a	CLIP-seq
MIRT1042098	hsa-miR-514	CLIP-seq
MIRT1042099	hsa-miR-514b-3p	CLIP-seq
MIRT1042100	hsa-miR-544	CLIP-seq
MIRT1042103	hsa-miR-761	CLIP-seq
MIRT1042105	hsa-miR-885-5p	CLIP-seq
MIRT1042106	hsa-miR-922	CLIP-seq
MIRT2544811	hsa-miR-1303	CLIP-seq
MIRT2544812	hsa-miR-4436b-5p	CLIP-seq
MIRT2544813	hsa-miR-4514	CLIP-seq
MIRT2544814	hsa-miR-4661-3p	CLIP-seq
MIRT2544815	hsa-miR-4692	CLIP-seq

Show/Hide all (83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003254	Process	Regulation of membrane depolarization	IBA
GO:0003254	Process	Regulation of membrane depolarization	IDA	16043489
GO:0003254	Process	Regulation of membrane depolarization	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	IEA
GO:0005222	Function	Intracellularly cAMP-activated cation channel activity	ISS
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	22748890
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	22748890
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	NAS	9405696
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	26966193, 33961781, 37207277
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IEA
GO:0005886	Component	Plasma membrane	IDA	22748890, 28086084, 30351409
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28086084
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030552	Function	CAMP binding	IDA	28086084
GO:0030552	Function	CAMP binding	IEA
GO:0030552	Function	CAMP binding	ISS
GO:0032590	Component	Dendrite membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IMP	22748890
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	22748890
GO:0042711	Process	Maternal behavior	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0045176	Process	Apical protein localization	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045759	Process	Negative regulation of action potential	IEA
GO:0046549	Process	Retinal cone cell development	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051289	Process	Protein homotetramerization	IDA	28086084
GO:0051592	Process	Response to calcium ion	IEA
GO:0051867	Process	General adaptation syndrome, behavioral process	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	ISO
GO:0055085	Process	Transmembrane transport	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071320	Process	Cellular response to cAMP	IDA	16043489, 22748890
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	IMP	28086084
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	22748890
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0086091	Process	Regulation of heart rate by cardiac conduction	NAS	16043489
GO:0097440	Component	Apical dendrite	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	NAS	16043489
GO:0098855	Component	HCN channel complex	IBA
GO:0098855	Component	HCN channel complex	IDA	28086084
GO:0098855	Component	HCN channel complex	IEA
GO:0098855	Component	HCN channel complex	ISO
GO:0098907	Process	Regulation of SA node cell action potential	NAS	16043489
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140232	Function	Intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	IEA
GO:1902065	Process	Response to L-glutamate	IEA
GO:1902630	Process	Regulation of membrane hyperpolarization	IEA
GO:1902632	Process	Positive regulation of membrane hyperpolarization	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	NAS	16043489

MIM	HGNC	e!Ensembl
602780	4845	ENSG00000164588

O60741

Protein name

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (Brain cyclic nucleotide-gated channel 1) (BCNG-1)

Protein function

Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions (PubMed:15351778, PubMed:28086084). Displays lower selectivity for K(+) over Na(+) ions (PubMed:28086084). Contributes to the native pacemaker currents in he

PDB

5U6O , 5U6P , 6UQF , 6UQG , 8T4M , 8T4Y , 8T50 , 8UC7 , 8UC8 , 9BC6 , 9BC7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08412	Ion_trans_N	98 → 141	Ion transport protein N-terminal	Family
PF00520	Ion_trans	142 → 405	Ion transport protein	Family
PF00027	cNMP_binding	493 → 576	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in brain, in particular in amygdala and hippocampus, while expression in caudate nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable. Detected at very low levels in muscle

Sequence

MEGGGKPNSSSNSRDDGNSVFPAKASATGAGPAAAEKRLGTPPGGGGAGAKEHGNSVCFK
VDGGGGGGGGGGGGEEPAGGFEDAEGPRRQYGFMQRQFTSMLQPGVNKFSLRMFGSQKAV
EKEQERVKTAGFWIIHPYSDFRFYWDLIMLIMMVGNLVIIPVGITFFTEQTTTPWIIFNV
ASDTVFLLDLIMNFRTGTVNEDSSEIILDPKVIKMNYLKSWFVVDFISSIPVDYIFLIVE
KGMDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDLASAVVRIFN
LIGMMLLLCHWDGCLQFLVPLLQDFPPDCWVSLNEMVNDSWGKQYSYALFKAMSHMLCIG
YGAQAPVSMSDLWITMLSMIVGATCYAMFVGHATALIQSLDSSRRQYQEKYKQVEQYMSF
HKLPADMRQKIHDYYEHRYQGKIFDEENILNELNDPLREEIVNFNCRKLVATMPLFANAD
PNFVTAMLSKLRFEVFQPGDYIIREGAVGKKMYFIQHGVAGVITKSSKEMKLTDGSYFGE
ICLLTKGRRTASVRADTYCRLYSLSVDNFNEVLEEYPMMRRAFETVAIDRLDRIGKKNSI
LLQKFQKDLNTGVFNNQENEILKQIVKHDREMVQAIAPINYPQMTTLNSTSSTTTPTSRM
RTQSPPVYTATSLSHSNLHSPSPSTQTPQPSAILSPCSYTTAVCSPPVQSPLAARTFHYA
SPTASQLSLMQQQPQQQVQQSQPPQTQPQQPSPQPQTPGSSTPKNEVHKSTQALHNTNLT
REVRPLSASQPSLPHEVSTLISRPHPTVGESLASIPQPVTAVPGTGLQAGGRSTVPQRVT
LFRQMSSGAIPPNRGVPPAPPPPAAALPRESSSVLNTDPDAEKPRFASNL

Sequence length

890

Interactions

View interactions

	KEGG		Reactome
	GnRH secretion		HCN channels

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Color vision defect	Pathogenic	rs2112031854	RCV001837052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1057519547, rs2112040738, rs2112040690, rs587777492, rs587777495, rs2478145394, rs2478543697, rs2478006956, rs2478145468, rs1554037381, rs1561139569, rs763339068	RCV001388285 RCV003753212 RCV002000335 RCV001054783 RCV003588579 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 24	Likely pathogenic; Pathogenic	rs587777492, rs587777493, rs587777494, rs587777495, rs2478543204, rs2478543843, rs2478007054, rs1057519547, rs1057519548, rs1057521989, rs1554040120, rs1561139569, rs1745671912	RCV000128459 RCV000128460 RCV000128461 RCV000128462 RCV002466332 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1057519547, rs1057519548	RCV000416966 RCV000417011	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizure (within the age range of 3 months to 6 years)	Pathogenic	rs2112031854	RCV001837052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus, type 10	Likely pathogenic; Pathogenic	rs2112032137, rs2111839421, rs2112040633, rs2112040738, rs2112040676, rs587777492, rs1561230486, rs1561139569, rs1561081319, rs1318391259, rs1561120793, rs1561230606	RCV001754550 RCV001843430 RCV001843431 RCV001843432 RCV001843433 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HCN1-related disorder	Likely pathogenic; Pathogenic	rs2478007024, rs1561139569	RCV004548600 RCV005870863	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs2112031854	RCV001837052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (47)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODIC LIMB MOVEMENT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	BEFREE	29596995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29596995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	12890777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19232126, 28178648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19232126, 20605201, 22045194, 27863437, 28178648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35202405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	22884333, 23033536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23033536, 29596995		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	17601992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	7700510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	30776697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CTD_human_DG	12890777		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	18070091, 20213494, 21615728, 22131395, 23034178, 24368169, 24747641, 29936235, 30351409, 30986657, 31292305		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	12890777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	LHGDN	17931874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	29047147, 29936235, 30351409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	12890777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	24747641, 29936235, 30351409		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CTD_human_DG	24747641		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24	Epileptic encephalopathy	UNIPROT_DG	24747641, 27864847, 30351409		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	24747641		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	25970616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	12890777		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG	30351409		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	7700510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	17931874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28416809		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	19232126, 28178648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	22884333		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29596995		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27901476, 29339292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	17433067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28127275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35806193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29596995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37239316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31596458	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	31292305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29394509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	19747469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	28416809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	20384728		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	24747641, 29936235		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	CTD_human_DG	24747641		★★★★★ ★☆☆☆☆ Found in Text Mining only

HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)