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

Gene

• Entrez ID: 56479
• Gene name: Potassium voltage-gated channel subfamily Q member 5
• Gene symbol: KCNQ5
• Synonyms (NCBI Gene): Kv7.5, MRD46
• Disease Acronyms (UniProt): MRD46
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054652	hsa-miR-190a-5p	Luciferase reporter assay, Western 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IBA	21873635
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	10787416, 11159685, 24855057
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	28669405
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	24855057
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	10787416, 11159685
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10787416, 11159685
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0030118	Component	Clathrin coat	IDA	24855057
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10787416, 11159685
GO:0071805	Process	Potassium ion transmembrane transport	IMP	28669405

Other IDs

• MIM: 607357
• HGNC: 6299
• e!Ensembl: ENSG00000185760

Protein

• UniProt ID: 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

Pathways

KEGG:

Cholinergic synapse

Reactome:

Voltage gated Potassium channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591	28189443
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	28669405, 30359776
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023	27182965, 23396134
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		21790008	ClinVar
Mental depression	Major Depressive Disorder		29662059	ClinVar
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability			GenCC
Schizophrenia	Schizophrenia			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Hyperopia	Hyperopia			GWAS
Periodontitis	Periodontitis			GWAS
Dementia	Dementia			GWAS
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Allergic Fungal Sinusitis	Associate	24595210
Amyotrophic Lateral Sclerosis	Associate	33417599
Autism Spectrum Disorder	Associate	37407249
Autistic Disorder	Associate	29904178
Brain Diseases	Associate	28669405
Colorectal Neoplasms	Associate	23975090, 31727158, 33892797
Depressive Disorder Treatment Resistant	Associate	28669405
Developmental Disabilities	Associate	29904178
Diarrhea	Associate	25127363
Disease	Associate	25127363, 33417599
Ehlers Danlos syndrome type 3	Associate	27518164
Epilepsy	Associate	38428481
Epilepsy Generalized	Associate	38428481
Epileptic Encephalopathy Early Infantile 3	Associate	35377796
HIV Infections	Associate	26039976
Inflammation	Associate	26434682, 27518164
Intellectual Disability	Associate	28669405
Irritable Bowel Syndrome	Associate	25127363
Joint Instability	Associate	27518164
Leukemia Myeloid Acute	Stimulate	35413218
Mental Disorders	Associate	25571521
Multiple Myeloma	Associate	31948430
Multiple Sclerosis	Associate	33417599
Myopia	Associate	28884119, 36395078
Neoplasms	Associate	25127363
Nerve Degeneration	Associate	38428481
Neurologic Manifestations	Associate	28669405
Pain	Associate	27518164
Refractive Errors	Associate	28884119