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	56479
Gene name	Potassium voltage-gated channel subfamily Q member 5
Gene symbol	KCNQ5
Synonyms (NCBI Gene)	Kv7.5MRD46
Chromosome	6
Chromosome location	6q13
Summary	This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form hete

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1135401955	T>G	Pathogenic	Coding sequence variant, missense variant
rs1135401956	C>A	Pathogenic	Coding sequence variant, missense variant
rs1135401957	G>T	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1135401958	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1554201137	C>T	Likely-pathogenic	Coding sequence variant, stop gained

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054652	hsa-miR-190a-5p	Luciferase reporter assayWestern blot	24446351
MIRT710021	hsa-miR-4282	HITS-CLIP	19536157
MIRT710020	hsa-miR-6507-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710019	hsa-miR-144-3p	HITS-CLIP	19536157
MIRT710018	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT710017	hsa-miR-139-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710015	hsa-miR-5096	HITS-CLIP	19536157
MIRT628063	hsa-miR-543	HITS-CLIP	23824327
MIRT628062	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628061	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT606998	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT607820	hsa-miR-5693	HITS-CLIP	24906430
MIRT378601	hsa-miR-194-3p	HITS-CLIP	24906430
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	24906430
MIRT607008	hsa-miR-5194	HITS-CLIP	24906430
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	24906430
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	24906430
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607003	hsa-miR-4455	HITS-CLIP	24906430
MIRT607002	hsa-miR-3650	HITS-CLIP	24906430
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	24906430
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	24906430
MIRT606998	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	24906430
MIRT607008	hsa-miR-5194	HITS-CLIP	24906430
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	24906430
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	24906430
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607003	hsa-miR-4455	HITS-CLIP	24906430
MIRT607002	hsa-miR-3650	HITS-CLIP	24906430
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	24906430
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	24906430
MIRT606998	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	27418678
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	27418678
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	27418678
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607008	hsa-miR-5194	HITS-CLIP	27418678
MIRT607008	hsa-miR-5194	HITS-CLIP	27418678
MIRT628063	hsa-miR-543	HITS-CLIP	27418678
MIRT628063	hsa-miR-543	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	27418678
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	27418678
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	27418678
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	27418678
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	27418678
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	27418678
MIRT710021	hsa-miR-4282	HITS-CLIP	19536157
MIRT710020	hsa-miR-6507-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710019	hsa-miR-144-3p	HITS-CLIP	19536157
MIRT710018	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT710017	hsa-miR-139-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710015	hsa-miR-5096	HITS-CLIP	19536157
MIRT628063	hsa-miR-543	HITS-CLIP	23824327
MIRT575619	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575617	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT575616	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1082355	hsa-miR-1207-5p	CLIP-seq
MIRT1082356	hsa-miR-182	CLIP-seq
MIRT1082357	hsa-miR-193a-3p	CLIP-seq
MIRT1082358	hsa-miR-193b	CLIP-seq
MIRT1082359	hsa-miR-200b	CLIP-seq
MIRT1082360	hsa-miR-200c	CLIP-seq
MIRT1082361	hsa-miR-3173-3p	CLIP-seq
MIRT1082362	hsa-miR-3940-5p	CLIP-seq
MIRT1082363	hsa-miR-429	CLIP-seq
MIRT1082364	hsa-miR-4428	CLIP-seq
MIRT1082365	hsa-miR-4470	CLIP-seq
MIRT1082366	hsa-miR-4506	CLIP-seq
MIRT1082367	hsa-miR-4507	CLIP-seq
MIRT1082368	hsa-miR-4736	CLIP-seq
MIRT1082369	hsa-miR-4763-3p	CLIP-seq
MIRT1082370	hsa-miR-892b	CLIP-seq
MIRT1082355	hsa-miR-1207-5p	CLIP-seq
MIRT1082357	hsa-miR-193a-3p	CLIP-seq
MIRT1082358	hsa-miR-193b	CLIP-seq
MIRT1082359	hsa-miR-200b	CLIP-seq
MIRT1082360	hsa-miR-200c	CLIP-seq
MIRT1082361	hsa-miR-3173-3p	CLIP-seq
MIRT1082363	hsa-miR-429	CLIP-seq
MIRT1082364	hsa-miR-4428	CLIP-seq
MIRT1082368	hsa-miR-4736	CLIP-seq
MIRT1082369	hsa-miR-4763-3p	CLIP-seq
MIRT1082370	hsa-miR-892b	CLIP-seq
MIRT1082356	hsa-miR-182	CLIP-seq
MIRT1082371	hsa-miR-196a	CLIP-seq
MIRT1082372	hsa-miR-196b	CLIP-seq
MIRT1082373	hsa-miR-331-5p	CLIP-seq
MIRT1082374	hsa-miR-361-3p	CLIP-seq
MIRT1082375	hsa-miR-3908	CLIP-seq
MIRT1082376	hsa-miR-3927	CLIP-seq
MIRT1082377	hsa-miR-3938	CLIP-seq
MIRT1082362	hsa-miR-3940-5p	CLIP-seq
MIRT1082378	hsa-miR-3942-5p	CLIP-seq
MIRT1082379	hsa-miR-4271	CLIP-seq
MIRT1082380	hsa-miR-4452	CLIP-seq
MIRT1082365	hsa-miR-4470	CLIP-seq
MIRT1082366	hsa-miR-4506	CLIP-seq
MIRT1082367	hsa-miR-4507	CLIP-seq
MIRT1082381	hsa-miR-4540	CLIP-seq
MIRT1082382	hsa-miR-4703-3p	CLIP-seq
MIRT1082383	hsa-miR-4703-5p	CLIP-seq
MIRT1082384	hsa-miR-4716-3p	CLIP-seq
MIRT1082385	hsa-miR-4725-3p	CLIP-seq
MIRT1082386	hsa-miR-4766-3p	CLIP-seq
MIRT1082387	hsa-miR-625	CLIP-seq
MIRT1082388	hsa-miR-297	CLIP-seq
MIRT1082374	hsa-miR-361-3p	CLIP-seq
MIRT1082381	hsa-miR-4540	CLIP-seq
MIRT1082389	hsa-miR-567	CLIP-seq
MIRT1550423	hsa-miR-485-3p	CLIP-seq
MIRT1082371	hsa-miR-196a	CLIP-seq
MIRT1082372	hsa-miR-196b	CLIP-seq
MIRT1082373	hsa-miR-331-5p	CLIP-seq
MIRT1082376	hsa-miR-3927	CLIP-seq
MIRT1082377	hsa-miR-3938	CLIP-seq
MIRT1082380	hsa-miR-4452	CLIP-seq
MIRT2020505	hsa-miR-4699-5p	CLIP-seq
MIRT1082382	hsa-miR-4703-3p	CLIP-seq
MIRT2252243	hsa-miR-4670-3p	CLIP-seq
MIRT2252244	hsa-miR-4694-5p	CLIP-seq
MIRT2252245	hsa-miR-548p	CLIP-seq
MIRT2389691	hsa-miR-3647-3p	CLIP-seq
MIRT2555549	hsa-miR-1470	CLIP-seq
MIRT2555550	hsa-miR-148a	CLIP-seq
MIRT2555551	hsa-miR-148b	CLIP-seq
MIRT2555552	hsa-miR-152	CLIP-seq
MIRT2555553	hsa-miR-208a	CLIP-seq
MIRT2555554	hsa-miR-208b	CLIP-seq
MIRT2555555	hsa-miR-3667-5p	CLIP-seq
MIRT2555556	hsa-miR-4469	CLIP-seq
MIRT2555557	hsa-miR-4667-3p	CLIP-seq
MIRT2555558	hsa-miR-4766-5p	CLIP-seq
MIRT2555559	hsa-miR-499-5p	CLIP-seq
MIRT2555560	hsa-miR-512-3p	CLIP-seq
MIRT2555549	hsa-miR-1470	CLIP-seq
MIRT2555550	hsa-miR-148a	CLIP-seq
MIRT2555551	hsa-miR-148b	CLIP-seq
MIRT2555552	hsa-miR-152	CLIP-seq
MIRT2555553	hsa-miR-208a	CLIP-seq
MIRT2555554	hsa-miR-208b	CLIP-seq
MIRT2555555	hsa-miR-3667-5p	CLIP-seq
MIRT2555556	hsa-miR-4469	CLIP-seq
MIRT2555557	hsa-miR-4667-3p	CLIP-seq
MIRT2555558	hsa-miR-4766-5p	CLIP-seq
MIRT2555559	hsa-miR-499-5p	CLIP-seq
MIRT2555560	hsa-miR-512-3p	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	10787416, 11159685, 24855057
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	28669405
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	24855057
GO:0005886	Component	Plasma membrane	IDA	10787416, 11159685
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10787416, 11159685
GO:0016020	Component	Membrane	IEA
GO:0030118	Component	Clathrin coat	IDA	24855057
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0044305	Component	Calyx of Held	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10787416, 11159685
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	28669405
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
607357	6299	ENSG00000185760

Q9NR82

Protein name

Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability (PubMed:10787416, PubMed:10816588, PubMed:11159685, PubMed:28669405). Associates with KCNQ3/Kv7.3

PDB

6B8Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	125 → 358	Ion transport protein	Family
PF03520	KCNQ_channel	447 → 634	KCNQ voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in brain and skeletal muscle (PubMed:10787416, PubMed:10816588). In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable le

Sequence

MPRHHAGGEEGGAAGLWVKSGAAAAAAGGGRLGSGMKDVESGRGRVLLNSAAARGDGLLL
LGTRAATLGGGGGGLRESRRGKQGARMSLLGKPLSYTSSQSCRRNVKYRRVQNYLYNVLE
RPRGWAFIYHAFVFLLVFGCLILSVFSTIPEHTKLASSCLLILEFVMIVVFGLEFIIRIW
SAGCCCRYRGWQGRLRFARKPFCVIDTIVLIASIAVVSAKTQGNIFATSALRSLRFLQIL
RMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFSSFLVYLVEKDANKEFSTYAD
ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQHRQ
KHFEKRRNPAANLIQCVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLS
FKERVRMASPRGQSIKSRQASVGDRRSPSTDITAEGSPTKVQKSWSFNDRTRFRPSLRLK
SSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAIRIMKFHVAKRKFKET
LRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKGSASALALASFQIPPFECEQTSDYQSP
VDSKDLSGSAQNSGCLSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQ
SDGSAVAATNTIANQINTAPKPAAPTTLQIPPPLPAIKHLPRPETLHPNPAGLQESISDV
TTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKDLGKSLSVQNLIRSTE
ELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
DSLRTGRSRSSQSICKAGESTDALSLPHVKLK

Sequence length

932

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse		Voltage gated Potassium 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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic	rs1554210415	RCV001255392	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 46	Pathogenic; Likely pathogenic	rs2150391860, rs530101249, rs1771729432, rs1765561142, rs2481569360, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554210418, rs1554201137, rs1775232605, rs1776322078, rs2533593552	RCV002210922 RCV003224776 RCV003225630 RCV003592388 RCV004515769 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (29)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 46	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KCNQ5-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33417599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21790008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20173747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37407249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29904178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal epilepsy	Benign Epilepsy	BEFREE	10884071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28669405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23975090, 31727158, 33892797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	24606313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28189443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	28189443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	28189443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	28189443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	10884071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24595210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29904178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25127363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31570602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11887968, 30359776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	38428481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	38428481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28669405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35377796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disease	Hypertension	BEFREE	31570602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	21891927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28669405, 30359776		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28669405		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28669405	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	25127363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	25127363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35413218	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	Mental retardation	GENOMICS_ENGLAND_DG	28669405, 30359776		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	Mental retardation	UNIPROT_DG	28669405		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31948430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	33417599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	23396134		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	GWASCAT_DG	27182965		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	28884119, 36395078	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	25672891		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	18545987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	BEFREE	28884119		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNQ5 (potassium voltage-gated channel subfamily Q member 5)