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	3756
Gene name	Potassium voltage-gated channel subfamily H member 1
Gene symbol	KCNH1
Synonyms (NCBI Gene)	EAGEAG1K(V)10.1Kv10.1TMBTSZLS1h-eaghEAGhEAG1
Chromosome	1
Chromosome location	1q32.2
Summary	Voltage-gated potassium (Kv) 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, neuro

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs727502819	T>C	Pathogenic	Coding sequence variant, missense variant
rs727502820	G>A	Pathogenic	Coding sequence variant, missense variant
rs727502821	T>C	Pathogenic	Coding sequence variant, missense variant
rs727502822	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs730882172	G>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882173	C>G	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882174	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882175	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730882176	G>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs878853026	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886041300	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1064794817	T>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1553344875	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553345948	G>A	Pathogenic	Coding sequence variant, missense variant
rs1558569964	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558570102	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1574266171	G>T	Likely-pathogenic	Coding sequence variant, missense variant

196

Show/Hide all (196)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006973	hsa-miR-296-3p	Luciferase reporter assayqRT-PCRWestern blot	22999387
MIRT006973	hsa-miR-296-3p	Luciferase reporter assayqRT-PCRWestern blot	22999387
MIRT018512	hsa-miR-335-5p	Microarray	18185580
MIRT054245	hsa-miR-34a-5p	Western blot	23569431
MIRT724318	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT724317	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724316	hsa-miR-4269	HITS-CLIP	19536157
MIRT724315	hsa-miR-6715b-5p	HITS-CLIP	19536157
MIRT724314	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT724312	hsa-miR-4673	HITS-CLIP	19536157
MIRT724313	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT724311	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT724310	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT724309	hsa-miR-4290	HITS-CLIP	19536157
MIRT724308	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT724307	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT724306	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT484317	hsa-miR-4257	PAR-CLIP	23592263
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT484315	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT484314	hsa-miR-7704	PAR-CLIP	23592263
MIRT724318	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT724317	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724316	hsa-miR-4269	HITS-CLIP	19536157
MIRT724315	hsa-miR-6715b-5p	HITS-CLIP	19536157
MIRT724314	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT724312	hsa-miR-4673	HITS-CLIP	19536157
MIRT724313	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT724311	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT724310	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT724309	hsa-miR-4290	HITS-CLIP	19536157
MIRT724308	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT724307	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT724306	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT484317	hsa-miR-4257	PAR-CLIP	23592263
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT484315	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT484314	hsa-miR-7704	PAR-CLIP	23592263
MIRT1081001	hsa-miR-1207-5p	CLIP-seq
MIRT1081002	hsa-miR-1271	CLIP-seq
MIRT1081003	hsa-miR-1286	CLIP-seq
MIRT1081004	hsa-miR-182	CLIP-seq
MIRT1081005	hsa-miR-1827	CLIP-seq
MIRT1081006	hsa-miR-24	CLIP-seq
MIRT1081007	hsa-miR-3200-5p	CLIP-seq
MIRT1081008	hsa-miR-340	CLIP-seq
MIRT1081009	hsa-miR-3646	CLIP-seq
MIRT1081010	hsa-miR-3688-3p	CLIP-seq
MIRT1081011	hsa-miR-3978	CLIP-seq
MIRT1081012	hsa-miR-4649-3p	CLIP-seq
MIRT1081013	hsa-miR-4700-3p	CLIP-seq
MIRT1081014	hsa-miR-4736	CLIP-seq
MIRT1081015	hsa-miR-4761-3p	CLIP-seq
MIRT1081016	hsa-miR-4763-3p	CLIP-seq
MIRT1081017	hsa-miR-4774-5p	CLIP-seq
MIRT1081018	hsa-miR-549	CLIP-seq
MIRT1081019	hsa-miR-580	CLIP-seq
MIRT1081020	hsa-miR-9	CLIP-seq
MIRT1081021	hsa-miR-96	CLIP-seq
MIRT1081022	hsa-miR-1248	CLIP-seq
MIRT1081023	hsa-miR-1264	CLIP-seq
MIRT1081024	hsa-miR-148a	CLIP-seq
MIRT1081025	hsa-miR-148b	CLIP-seq
MIRT1081026	hsa-miR-152	CLIP-seq
MIRT1081027	hsa-miR-19a	CLIP-seq
MIRT1081028	hsa-miR-19b	CLIP-seq
MIRT1081029	hsa-miR-216a	CLIP-seq
MIRT1081030	hsa-miR-216b	CLIP-seq
MIRT1081031	hsa-miR-3145-3p	CLIP-seq
MIRT1081032	hsa-miR-3148	CLIP-seq
MIRT1081033	hsa-miR-3168	CLIP-seq
MIRT1081034	hsa-miR-3180-5p	CLIP-seq
MIRT1081035	hsa-miR-3609	CLIP-seq
MIRT1081036	hsa-miR-3921	CLIP-seq
MIRT1081037	hsa-miR-3925-3p	CLIP-seq
MIRT1081038	hsa-miR-4502	CLIP-seq
MIRT1081039	hsa-miR-4503	CLIP-seq
MIRT1081040	hsa-miR-4653-5p	CLIP-seq
MIRT1081041	hsa-miR-4691-3p	CLIP-seq
MIRT1081042	hsa-miR-4697-3p	CLIP-seq
MIRT1081013	hsa-miR-4700-3p	CLIP-seq
MIRT1081043	hsa-miR-4757-5p	CLIP-seq
MIRT1081044	hsa-miR-4768-5p	CLIP-seq
MIRT1081045	hsa-miR-4777-5p	CLIP-seq
MIRT1081046	hsa-miR-4778-3p	CLIP-seq
MIRT1081047	hsa-miR-505	CLIP-seq
MIRT1081048	hsa-miR-512-3p	CLIP-seq
MIRT1081049	hsa-miR-518a-5p	CLIP-seq
MIRT1081050	hsa-miR-518d-5p	CLIP-seq
MIRT1081051	hsa-miR-519b-5p	CLIP-seq
MIRT1081052	hsa-miR-519c-5p	CLIP-seq
MIRT1081053	hsa-miR-520c-5p	CLIP-seq
MIRT1081054	hsa-miR-526a	CLIP-seq
MIRT1081055	hsa-miR-527	CLIP-seq
MIRT1081056	hsa-miR-542-3p	CLIP-seq
MIRT1081057	hsa-miR-548ah	CLIP-seq
MIRT1081058	hsa-miR-766	CLIP-seq
MIRT2020088	hsa-miR-1207-3p	CLIP-seq
MIRT2020089	hsa-miR-3135b	CLIP-seq
MIRT1081036	hsa-miR-3921	CLIP-seq
MIRT2020090	hsa-miR-4533	CLIP-seq
MIRT1081040	hsa-miR-4653-5p	CLIP-seq
MIRT2020091	hsa-miR-513c	CLIP-seq
MIRT2020092	hsa-miR-514b-5p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2452173	hsa-miR-4254	CLIP-seq
MIRT2452174	hsa-miR-4434	CLIP-seq
MIRT2452175	hsa-miR-4516	CLIP-seq
MIRT2452176	hsa-miR-4531	CLIP-seq
MIRT2452177	hsa-miR-4688	CLIP-seq
MIRT2452178	hsa-miR-4786-3p	CLIP-seq
MIRT2452179	hsa-miR-486-3p	CLIP-seq
MIRT2452180	hsa-miR-490-3p	CLIP-seq
MIRT2452181	hsa-miR-619	CLIP-seq
MIRT2555209	hsa-miR-1243	CLIP-seq
MIRT2555210	hsa-miR-138	CLIP-seq
MIRT1081006	hsa-miR-24	CLIP-seq
MIRT2555211	hsa-miR-28-5p	CLIP-seq
MIRT2555212	hsa-miR-299-5p	CLIP-seq
MIRT2555213	hsa-miR-3139	CLIP-seq
MIRT2555214	hsa-miR-3202	CLIP-seq
MIRT2555215	hsa-miR-361-3p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2555216	hsa-miR-3654	CLIP-seq
MIRT2555217	hsa-miR-4299	CLIP-seq
MIRT2555218	hsa-miR-4487	CLIP-seq
MIRT2020090	hsa-miR-4533	CLIP-seq
MIRT2555219	hsa-miR-4726-3p	CLIP-seq
MIRT2555220	hsa-miR-493	CLIP-seq
MIRT2555221	hsa-miR-708	CLIP-seq
MIRT2555210	hsa-miR-138	CLIP-seq
MIRT2555211	hsa-miR-28-5p	CLIP-seq
MIRT2555213	hsa-miR-3139	CLIP-seq
MIRT2555215	hsa-miR-361-3p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2555217	hsa-miR-4299	CLIP-seq
MIRT2555218	hsa-miR-4487	CLIP-seq
MIRT2555219	hsa-miR-4726-3p	CLIP-seq
MIRT2555220	hsa-miR-493	CLIP-seq
MIRT2683205	hsa-miR-548ag	CLIP-seq
MIRT2683206	hsa-miR-548ai	CLIP-seq
MIRT2555221	hsa-miR-708	CLIP-seq

Show/Hide all (49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	11943152, 22732247, 27005320, 27325704
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	9738473
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20708613, 25416956
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	27005320, 27325704
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22732247
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	11943152
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	9738473
GO:0007520	Process	Myoblast fusion	TAS	9738473
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11943152, 22732247
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9738473
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030551	Function	Cyclic nucleotide binding	ISS
GO:0031901	Component	Early endosome membrane	IDA	22841712
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042127	Process	Regulation of cell population proliferation	IMP	23881642
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	IMP	27005320, 27325704
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	22732247, 27005320, 27325704
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IDA	27005320

MIM	HGNC	e!Ensembl
603305	6250	ENSG00000143473

O95259

Protein name

Voltage-gated delayed rectifier potassium channel KCNH1 (Ether-a-go-go potassium channel 1) (EAG channel 1) (h-eag) (hEAG1) (Potassium voltage-gated channel subfamily H member 1) (Voltage-gated potassium channel subunit Kv10.1)

Protein function

Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:10880439, PubMed:1194315

PDB

5J7E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13426	PAS_9	30 → 135	PAS domain	Domain
PF00520	Ion_trans	217 → 510	Ion transport protein	Family
PF00027	cNMP_binding	599 → 684	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues (PubMed:9738473). Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epitheli

Sequence

MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEV
MQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQ
DKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHK
HSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVS
FKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDL
LSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLR
LGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLY
QLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFA
VAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYI
VSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTV
HCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCAN
VRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEER
MKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANH
SLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARF
KDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSP
QDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTS
RRSSQSPQELFEISRPQSPESERDIFGAS

Sequence length

989

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

147

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs886041300	RCV001003573
Intellectual disability	Likely pathogenic; Pathogenic	rs886041300	RCV005625494
KCNH1-related disorder	Likely pathogenic; Pathogenic	rs886041300, rs2526835712, rs2526809987	RCV004547654 RCV003233408 RCV004548604
KCNH1-related phenotype	Likely pathogenic	rs1558570102	RCV000678981
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs878853026	RCV001375036
See cases	Likely pathogenic; Pathogenic	rs2102406873, rs730882175	RCV002252378 RCV001420320
Seizure	Likely pathogenic; Pathogenic	rs886041300	RCV001003573
Severe intellectual disability	Likely pathogenic; Pathogenic	rs886041300	RCV001003573
Temple-Baraitser syndrome	Likely pathogenic; Pathogenic	rs2102561827, rs727502819, rs727502820, rs727502821, rs727502822, rs730882175, rs886041300, rs1553345948	RCV002254215 RCV000149910 RCV000149911 RCV000149912 RCV000149913 RCV002464134 RCV001262681 RCV004767323
Zimmermann-Laband syndrome 1	Likely pathogenic; Pathogenic	rs1684483227, rs727502819, rs730882175, rs730882173, rs730882176, rs730882174, rs730882172, rs886041300	RCV001337057 RCV000185590 RCV000190321 RCV000190320 RCV000185592 RCV000190319 RCV000190322 RCV003223540 RCV001251120

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs371647073	RCV005921370
Developmental disorder	Likely benign	rs1348802993, rs2546371197	RCV001843748 RCV003128018
Epilepsy	Conflicting classifications of pathogenicity	rs779813730	RCV005626579
Familial cancer of breast	Benign; Likely benign	rs77214996	RCV005924725
KCNH1 associated disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs2149000783, rs754794236, rs2527120727	RCV002272516 RCV002272566 RCV004594708
Lung cancer	Benign; Likely benign	rs77214996	RCV005924729
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs77214996	RCV005924727
Malignant tumor of esophagus	Benign; Likely benign	rs77214996	RCV005924726
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs77214996	RCV005924728

Show/Hide Text Mining Associations (54)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	33494179
Autism Spectrum Disorder	Associate	35639255
Autistic Disorder	Associate	37817707
Brain Diseases	Associate	36285361, 37817707
Breast Neoplasms	Associate	14985237, 24838727, 26823849, 31184333, 32161292, 39456830
Breast Neoplasms	Stimulate	21315112
Breech Presentation	Associate	37817707
Capillary Malformation Arteriovenous Malformation	Associate	33494179
Carcinogenesis	Associate	21655246, 31184333, 35639255
Carcinoma Ductal	Associate	26823849
Carcinoma Renal Cell	Associate	40302348
Channelopathies	Associate	33594261
Ciliopathies	Associate	35639255
Colorectal Neoplasms	Associate	17451210
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36285361
Coronary Artery Disease	Associate	31847810
Developmental Disabilities	Associate	33594261, 35639255
Diarrhea	Associate	31847810
digital ulcers	Associate	33594261
Epilepsy	Associate	33494179, 35639255, 36285361
Epilepsy Generalized	Associate	33494179
Fibromatosis Gingival	Associate	40604848
Focal cortical dysplasia of Taylor	Associate	33494179
Genetic Diseases Inborn	Associate	33594261
Gingivitis	Associate	33594261
Heredodegenerative Disorders Nervous System	Associate	29578501
Hypertrichosis	Associate	33594261
Infantile Epileptic Dyskinetic Encephalopathy	Associate	40604848
Intellectual Disability	Associate	33494179
Kidney Neoplasms	Associate	40302348
Leukemia Myeloid Acute	Associate	20105281
Lymphatic Metastasis	Associate	17451210
Melanocytic nevus syndrome congenital	Associate	37817707
Meningitis Meningococcal	Associate	40604848
Microphthalmia Isolated 1	Associate	36285361
Molybdenum cofactor deficiency	Associate	37817707
Myocardial Infarction	Associate	31847810
Neoplasm Metastasis	Associate	26823849
Neoplasms	Associate	17451210, 20105281, 21655246, 21899742, 22061963, 23413122, 24838727, 26823849, 29578501, 31184333, 31973216
Neurologic Manifestations	Associate	35639255
Osteosarcoma	Associate	36142445
Ovarian Neoplasms	Associate	21138547
Pituitary Neoplasms	Associate	23413122
Prostatic Neoplasms	Associate	21899742
Retinoblastoma	Associate	31973216
Schizophrenia	Associate	35639255
Seizures	Associate	36285361
Seizures Febrile	Associate	36285361
Status Epilepticus	Associate	36285361
Temple Baraitser Syndrome	Associate	27282200, 35639255, 37817707, 40604848
Tertiary Lymphoid Structures	Stimulate	26823849
Triple Negative Breast Neoplasms	Associate	26823849
Uterine Cervical Neoplasms	Associate	24819656
Zimmerman Laband syndrome	Associate	27282200, 33594261, 35639255, 37817707, 40604848

KCNH1 (potassium voltage-gated channel subfamily H member 1)