KCNQ3 (potassium voltage-gated channel subfamily Q member 3)

Gene

• Entrez ID: 3786
• Gene name: Potassium voltage-gated channel subfamily Q member 3
• Gene symbol: KCNQ3
• Synonyms (NCBI Gene): BFNC2, EBN2, KV7.3
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel cur

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118192247	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192248	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192249	A>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192250	C>A	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192251	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs118192252	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs118192254	T>C	Likely-benign, benign, pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143683496	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147173555	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs150821246	C>T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs181746838	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185511111	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs185628977	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201328910	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs750375617	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs754896169	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs762289015	T>-,TT	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs763446963	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs796052675	G>A,T	Likely-benign, pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant
rs796052676	G>A	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052677	T>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052678	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs796052680	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs977989588	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1064794632	C>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1064795142	C>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1085307996	C>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1381851622	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1554626549	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1554627025	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1554627439	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs1586800133	A>G	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625644	hsa-miR-4760-3p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625643	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT625642	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT625636	hsa-miR-192-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	27418678
MIRT623496	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625644	hsa-miR-4760-3p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT625643	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT625642	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT625641	hsa-miR-4469	HITS-CLIP	23824327
MIRT625640	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT625639	hsa-miR-4287	HITS-CLIP	23824327
MIRT625638	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT625637	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT625636	hsa-miR-192-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT623501	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT623500	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT623499	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT623498	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT623497	hsa-miR-4455	HITS-CLIP	23824327
MIRT623496	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1082225	hsa-miR-1228	CLIP-seq
MIRT1082226	hsa-miR-1262	CLIP-seq
MIRT1082227	hsa-miR-1273g	CLIP-seq
MIRT1082228	hsa-miR-1285	CLIP-seq
MIRT1082229	hsa-miR-129-5p	CLIP-seq
MIRT1082230	hsa-miR-1323	CLIP-seq
MIRT1082231	hsa-miR-135a	CLIP-seq
MIRT1082232	hsa-miR-135b	CLIP-seq
MIRT1082233	hsa-miR-136	CLIP-seq
MIRT1082234	hsa-miR-1827	CLIP-seq
MIRT1082235	hsa-miR-185	CLIP-seq
MIRT1082236	hsa-miR-193a-3p	CLIP-seq
MIRT1082237	hsa-miR-193b	CLIP-seq
MIRT1082238	hsa-miR-199a-3p	CLIP-seq
MIRT1082239	hsa-miR-199b-3p	CLIP-seq
MIRT1082240	hsa-miR-2116	CLIP-seq
MIRT1082241	hsa-miR-218	CLIP-seq
MIRT1082242	hsa-miR-23a	CLIP-seq
MIRT1082243	hsa-miR-23b	CLIP-seq
MIRT1082244	hsa-miR-23c	CLIP-seq
MIRT1082245	hsa-miR-2682	CLIP-seq
MIRT1082246	hsa-miR-3115	CLIP-seq
MIRT1082247	hsa-miR-3119	CLIP-seq
MIRT1082248	hsa-miR-3123	CLIP-seq
MIRT1082249	hsa-miR-3129-5p	CLIP-seq
MIRT1082250	hsa-miR-3140-3p	CLIP-seq
MIRT1082251	hsa-miR-3148	CLIP-seq
MIRT1082252	hsa-miR-3154	CLIP-seq
MIRT1082253	hsa-miR-3160-3p	CLIP-seq
MIRT1082254	hsa-miR-3175	CLIP-seq
MIRT1082255	hsa-miR-3179	CLIP-seq
MIRT1082256	hsa-miR-3184	CLIP-seq
MIRT1082257	hsa-miR-3185	CLIP-seq
MIRT1082258	hsa-miR-3187-3p	CLIP-seq
MIRT1082259	hsa-miR-3187-5p	CLIP-seq
MIRT1082260	hsa-miR-3200-5p	CLIP-seq
MIRT1082261	hsa-miR-323b-5p	CLIP-seq
MIRT1082262	hsa-miR-3646	CLIP-seq
MIRT1082263	hsa-miR-3675-5p	CLIP-seq
MIRT1082264	hsa-miR-3714	CLIP-seq
MIRT1082265	hsa-miR-378g	CLIP-seq
MIRT1082266	hsa-miR-3945	CLIP-seq
MIRT1082267	hsa-miR-3974	CLIP-seq
MIRT1082268	hsa-miR-3978	CLIP-seq
MIRT1082269	hsa-miR-409-3p	CLIP-seq
MIRT1082270	hsa-miR-423-5p	CLIP-seq
MIRT1082271	hsa-miR-4253	CLIP-seq
MIRT1082272	hsa-miR-4257	CLIP-seq
MIRT1082273	hsa-miR-4261	CLIP-seq
MIRT1082274	hsa-miR-4270	CLIP-seq
MIRT1082275	hsa-miR-4273	CLIP-seq
MIRT1082276	hsa-miR-4282	CLIP-seq
MIRT1082277	hsa-miR-4283	CLIP-seq
MIRT1082278	hsa-miR-4289	CLIP-seq
MIRT1082279	hsa-miR-4306	CLIP-seq
MIRT1082280	hsa-miR-4307	CLIP-seq
MIRT1082281	hsa-miR-4314	CLIP-seq
MIRT1082282	hsa-miR-4323	CLIP-seq
MIRT1082283	hsa-miR-433	CLIP-seq
MIRT1082284	hsa-miR-4441	CLIP-seq
MIRT1082285	hsa-miR-4445	CLIP-seq
MIRT1082286	hsa-miR-4487	CLIP-seq
MIRT1082287	hsa-miR-4489	CLIP-seq
MIRT1082288	hsa-miR-4496	CLIP-seq
MIRT1082289	hsa-miR-449c	CLIP-seq
MIRT1082290	hsa-miR-4528	CLIP-seq
MIRT1082291	hsa-miR-4529-5p	CLIP-seq
MIRT1082292	hsa-miR-4644	CLIP-seq
MIRT1082293	hsa-miR-4649-3p	CLIP-seq
MIRT1082294	hsa-miR-4668-3p	CLIP-seq
MIRT1082295	hsa-miR-4677-5p	CLIP-seq
MIRT1082296	hsa-miR-4687-5p	CLIP-seq
MIRT1082297	hsa-miR-4701-3p	CLIP-seq
MIRT1082298	hsa-miR-4708-3p	CLIP-seq
MIRT1082299	hsa-miR-4710	CLIP-seq
MIRT1082300	hsa-miR-4716-3p	CLIP-seq
MIRT1082301	hsa-miR-4720-3p	CLIP-seq
MIRT1082302	hsa-miR-4723-5p	CLIP-seq
MIRT1082303	hsa-miR-4729	CLIP-seq
MIRT1082304	hsa-miR-4738-3p	CLIP-seq
MIRT1082305	hsa-miR-4769-3p	CLIP-seq
MIRT1082306	hsa-miR-4772-5p	CLIP-seq
MIRT1082307	hsa-miR-4797-3p	CLIP-seq
MIRT1082308	hsa-miR-4799-5p	CLIP-seq
MIRT1082309	hsa-miR-4804-3p	CLIP-seq
MIRT1082310	hsa-miR-513a-3p	CLIP-seq
MIRT1082311	hsa-miR-548g	CLIP-seq
MIRT1082312	hsa-miR-548l	CLIP-seq
MIRT1082313	hsa-miR-548n	CLIP-seq
MIRT1082314	hsa-miR-548o	CLIP-seq
MIRT1082315	hsa-miR-552	CLIP-seq
MIRT1082316	hsa-miR-556-5p	CLIP-seq
MIRT1082317	hsa-miR-558	CLIP-seq
MIRT1082318	hsa-miR-612	CLIP-seq
MIRT1082319	hsa-miR-617	CLIP-seq
MIRT1082320	hsa-miR-624	CLIP-seq
MIRT1082321	hsa-miR-636	CLIP-seq
MIRT1082322	hsa-miR-664	CLIP-seq
MIRT1082323	hsa-miR-665	CLIP-seq
MIRT1082324	hsa-miR-876-3p	CLIP-seq
MIRT1082325	hsa-miR-885-5p	CLIP-seq
MIRT1082326	hsa-miR-889	CLIP-seq
MIRT1082327	hsa-miR-892b	CLIP-seq
MIRT1082328	hsa-miR-936	CLIP-seq
MIRT1082329	hsa-miR-940	CLIP-seq
MIRT1550416	hsa-miR-515-3p	CLIP-seq
MIRT1550417	hsa-miR-519e	CLIP-seq
MIRT2020499	hsa-miR-200b	CLIP-seq
MIRT2020500	hsa-miR-200c	CLIP-seq
MIRT2020501	hsa-miR-429	CLIP-seq
MIRT2020502	hsa-miR-4753-3p	CLIP-seq
MIRT1082225	hsa-miR-1228	CLIP-seq
MIRT1082231	hsa-miR-135a	CLIP-seq
MIRT1082232	hsa-miR-135b	CLIP-seq
MIRT1082241	hsa-miR-218	CLIP-seq
MIRT2020503	hsa-miR-3145-3p	CLIP-seq
MIRT1082301	hsa-miR-4720-3p	CLIP-seq
MIRT1082309	hsa-miR-4804-3p	CLIP-seq
MIRT1082321	hsa-miR-636	CLIP-seq
MIRT1082326	hsa-miR-889	CLIP-seq
MIRT2252202	hsa-miR-1184	CLIP-seq
MIRT2252203	hsa-miR-1205	CLIP-seq
MIRT2252204	hsa-miR-1233	CLIP-seq
MIRT1082228	hsa-miR-1285	CLIP-seq
MIRT1082233	hsa-miR-136	CLIP-seq
MIRT2252205	hsa-miR-298	CLIP-seq
MIRT1082246	hsa-miR-3115	CLIP-seq
MIRT1082250	hsa-miR-3140-3p	CLIP-seq
MIRT1082252	hsa-miR-3154	CLIP-seq
MIRT2252206	hsa-miR-3158-5p	CLIP-seq
MIRT2252207	hsa-miR-3180-5p	CLIP-seq
MIRT1082257	hsa-miR-3185	CLIP-seq
MIRT1082259	hsa-miR-3187-5p	CLIP-seq
MIRT1082263	hsa-miR-3675-5p	CLIP-seq
MIRT1082265	hsa-miR-378g	CLIP-seq
MIRT2252208	hsa-miR-3919	CLIP-seq
MIRT2252209	hsa-miR-3921	CLIP-seq
MIRT2252210	hsa-miR-3942-3p	CLIP-seq
MIRT1082267	hsa-miR-3974	CLIP-seq
MIRT1082274	hsa-miR-4270	CLIP-seq
MIRT1082277	hsa-miR-4283	CLIP-seq
MIRT2252211	hsa-miR-4303	CLIP-seq
MIRT1082281	hsa-miR-4314	CLIP-seq
MIRT2252212	hsa-miR-4328	CLIP-seq
MIRT2252213	hsa-miR-4437	CLIP-seq
MIRT1082284	hsa-miR-4441	CLIP-seq
MIRT2252214	hsa-miR-4457	CLIP-seq
MIRT2252215	hsa-miR-4481	CLIP-seq
MIRT2252216	hsa-miR-4486	CLIP-seq
MIRT1082287	hsa-miR-4489	CLIP-seq
MIRT2252217	hsa-miR-4530	CLIP-seq
MIRT2252218	hsa-miR-4653-5p	CLIP-seq
MIRT2252219	hsa-miR-4674	CLIP-seq
MIRT2252220	hsa-miR-4693-3p	CLIP-seq
MIRT1082303	hsa-miR-4729	CLIP-seq
MIRT2252221	hsa-miR-4745-5p	CLIP-seq
MIRT2020502	hsa-miR-4753-3p	CLIP-seq
MIRT2252222	hsa-miR-4768-5p	CLIP-seq
MIRT2252223	hsa-miR-513b	CLIP-seq
MIRT2252224	hsa-miR-520a-5p	CLIP-seq
MIRT2252225	hsa-miR-525-5p	CLIP-seq
MIRT2252226	hsa-miR-526b	CLIP-seq
MIRT2252227	hsa-miR-544	CLIP-seq
MIRT2252228	hsa-miR-587	CLIP-seq
MIRT1082318	hsa-miR-612	CLIP-seq
MIRT1082320	hsa-miR-624	CLIP-seq
MIRT2252207	hsa-miR-3180-5p	CLIP-seq
MIRT2389679	hsa-miR-346	CLIP-seq
MIRT2389680	hsa-miR-4288	CLIP-seq
MIRT2389681	hsa-miR-4318	CLIP-seq
MIRT2389682	hsa-miR-4474-3p	CLIP-seq
MIRT2389683	hsa-miR-4693-5p	CLIP-seq
MIRT2389684	hsa-miR-4727-5p	CLIP-seq
MIRT1082305	hsa-miR-4769-3p	CLIP-seq
MIRT2252226	hsa-miR-526b	CLIP-seq
MIRT2389685	hsa-miR-632	CLIP-seq
MIRT2389686	hsa-miR-654-3p	CLIP-seq
MIRT2389687	hsa-miR-760	CLIP-seq
MIRT2389688	hsa-miR-892a	CLIP-seq
MIRT1082229	hsa-miR-129-5p	CLIP-seq
MIRT2555538	hsa-miR-2110	CLIP-seq
MIRT2555539	hsa-miR-3125	CLIP-seq
MIRT2555540	hsa-miR-3150a-3p	CLIP-seq
MIRT2555541	hsa-miR-3916	CLIP-seq
MIRT2555542	hsa-miR-3928	CLIP-seq
MIRT2555543	hsa-miR-4260	CLIP-seq
MIRT2555544	hsa-miR-4271	CLIP-seq
MIRT2555545	hsa-miR-4428	CLIP-seq
MIRT2555546	hsa-miR-4645-5p	CLIP-seq
MIRT2555547	hsa-miR-4673	CLIP-seq
MIRT2555548	hsa-miR-4725-3p	CLIP-seq
MIRT2555539	hsa-miR-3125	CLIP-seq
MIRT2555541	hsa-miR-3916	CLIP-seq
MIRT2555542	hsa-miR-3928	CLIP-seq
MIRT2555546	hsa-miR-4645-5p	CLIP-seq
MIRT2555547	hsa-miR-4673	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
REST	Repression	20926649
SP1	Activation	20926649

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	11159685, 27564677
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	27564677
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IDA	27564677
GO:0005886	Component	Plasma membrane	ISS	16525039
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	10788442, 11159685
GO:0007268	Process	Chemical synaptic transmission	TAS	9425900
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11159685, 27564677
GO:0009986	Component	Cell surface	IEA
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0033268	Component	Node of Ranvier	ISS	16525039
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0043194	Component	Axon initial segment	IBA	21873635
GO:0043194	Component	Axon initial segment	ISS	16525039
GO:0045202	Component	Synapse	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635
GO:0071805	Process	Potassium ion transmembrane transport	IDA	11159685, 27564677

Other IDs

• MIM: 602232
• HGNC: 6297
• e!Ensembl: ENSG00000184156

Protein

• UniProt ID: O43525
• Protein name: Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
• Protein function: Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of po
• PDB: 5J03
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	121 → 363	Ion transport protein	Family
  PF03520	KCNQ_channel	446 → 650	KCNQ voltage-gated potassium channel	Family
  PF11956	KCNQC3-Ank-G_bd	770 → 866	Ankyrin-G binding motif of KCNQ2-3	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in brain.
• Sequence:

  MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAG
  ADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRG
  WALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGC
  CCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRM
  DRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEF
  ETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQ
  EQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS
  SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKA
  YAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRP
  YDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPR
  NEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERLQVQVTEYYPT
  KGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNL
  PRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRR
  SITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDT
  DTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI

• Sequence length: 872

Pathways

KEGG:

Cholinergic synapse

Reactome:

Voltage gated Potassium channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Angelman syndrome	Angelman Syndrome	rs111033595, rs111033596, rs111033597, rs2147483647, rs28934904, rs267608434, rs28935468, rs61748396, rs398124440, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570, rs587780571, rs587780572, rs587780573, rs587780574, rs587780575, rs587780576, rs587780577, rs587780578, rs587780579, rs587780580, rs76794400, rs587780581, rs587780582, rs587780583, rs587780584, rs587780585, rs63749748, rs61754453, rs267608546, rs587781190, rs587781191, rs587781192, rs587781193, rs587781194, rs587781195, rs587781196, rs587781197, rs587781198, rs587781199, rs587781200, rs587781201, rs587781202, rs587781203, rs587781204, rs587781205, rs587781206, rs587781207, rs587781208, rs587781209, rs587781210, rs587781211, rs587781212, rs587781213, rs587781214, rs587781215, rs587781216, rs587781217, rs587781218, rs587781219, rs587781220, rs587781221, rs587781222, rs587781223, rs587781224, rs587781225, rs1555379745, rs587781226, rs587781227, rs1555379684, rs587781228, rs587781229, rs587781231, rs587781232, rs587781233, rs587781234, rs587781235, rs587781236, rs587781237, rs587781238, rs587781239, rs587781240, rs587781241, rs587781242, rs587781243, rs587781244, rs587783097, rs587784526, rs587784520, rs587782919, rs587784519, rs587784518, rs587784516, rs587784515, rs587784514, rs587784513, rs587784512, rs587784509, rs587784508, rs587784534, rs587784533, rs587784532, rs587784531, rs587784530, rs587784529, rs1557135251, rs863225070, rs863225068, rs756564767, rs797046088, rs1555379800, rs587781230, rs797046087, rs797046086, rs797046085, rs797046084, rs863224940, rs864309508, rs864309506, rs886039516, rs886041603, rs1057519062, rs1064792950, rs1064795001, rs1064795012, rs1064793307, rs1555399937, rs1490279918, rs1555380809, rs1555391286, rs1555400239, rs1555393242, rs1566954070, rs1566959617, rs1566961418, rs1595375255, rs1595375630, rs1595804239, rs1207660411, rs1595362860, rs1595572384, rs1595591164, rs997044541, rs2074508602, rs2080231132, rs2080238010, rs1891450501
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	31324766
Epilepsy	Epilepsy, Rolandic, EPILEPSY, BENIGN NEONATAL, 2, Benign familial neonatal epilepsy, Benign familial infantile epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29358611, 9425900, 9872318, 14534157, 10852552, 25982755
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Mental retardation	Moderate intellectual disability	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
Migraine	Migraine Disorders	rs794727411
Myoclonic epilepsy	Juvenile Myoclonic Epilepsy, Juvenile myoclonic epilepsy	rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629, rs121918630, rs1574061044, rs121918632, rs397514458, rs397514459, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443, rs398122387, rs121917923, rs121917957, rs121917929, rs121917927, rs121917966, rs121917967, rs121917990, rs121917941, rs121917964, rs121917943, rs121917972, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917974, rs121917945, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917949, rs121917926, rs121917950, rs121917951, rs121917952, rs121917980, rs121917921, rs121917981, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917909, rs121917938, rs121917928, rs121918753, rs121918782, rs121918784, rs121918733, rs121918734, rs121918788, rs121918736, rs121917969, rs121918775, rs121918737, rs121918786, rs121918796, rs121918754, rs121918745, rs121918738, rs121918746, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918797, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918763, rs121918757, rs121918751, rs121918783, rs121918773, rs121918793, rs121918780, rs121918735, rs398123585, rs398123588, rs398123593, rs545986367, rs727504136, rs794726737, rs794726739, rs794726845, rs779614747, rs794726726, rs372098964, rs794726801, rs794726769, rs794726781, rs794726780, rs794726741, rs794726783, rs794726832, rs794726814, rs794726722, rs794726703, rs794726702, rs794726763, rs794726802, rs794726804, rs794726748, rs794726851, rs794726740, rs794726754, rs794726698, rs794726758, rs794726760, rs794726819, rs794726839, rs794726759, rs199727342, rs794726701, rs794726850, rs794726785, rs794726800, rs764037830, rs794726757, rs794726752, rs794726825, rs794726835, rs139300715, rs794726809, rs794726696, rs794726734, rs794726699, rs794726705, rs794726784, rs794726745, rs794726707, rs794726779, rs794726821, rs794726822, rs794726789, rs794726723, rs146878122, rs794726816, rs794726700, rs794726853, rs794726731, rs794726852, rs794726841, rs794726709, rs777939538, rs794726817, rs794726727, rs794726706, rs794726770, rs794726735, rs794726744, rs794726854, rs794726710, rs794726720, rs794726836, rs794726774, rs794726729, rs794726728, rs794726733, rs542420576, rs794726756, rs794726813, rs794726830, rs794726714, rs794726772, rs1696406839, rs794726842, rs794726828, rs794726823, rs794726708, rs794726808, rs794726716, rs121917971, rs794726718, rs794726721, rs794726761, rs794726815, rs794726786, rs794726787, rs794726697, rs794726775, rs794726712, rs794726794, rs794726738, rs794726805, rs767045134, rs794726820, rs794726766, rs794726750, rs794726743, rs794726742, rs794726795, rs794726730, rs794726806, rs794726747, rs794726838, rs794726778, rs794726834, rs794726736, rs794726704, rs794726773, rs794726749, rs794726717, rs794726790, rs794726829, rs794726807, rs794726810, rs121917989, rs794726826, rs794726725, rs794726818, rs794726776, rs794726777, rs794726765, rs794726753, rs794726732, rs794726799, rs794726695, rs794726792, rs794726767, rs794726768, rs794726844, rs794726782, rs794726797, rs794726843, rs794726798, rs794726824, rs794726837, rs794726846, rs794726788, rs794726847, rs794726812, rs794726771, rs794726751, rs773407463, rs794726755, rs794726719, rs794726724, rs794726833, rs794726827, rs1553551314, rs794726840, rs794726849, rs794726764, rs794726803, rs794726831, rs794726711, rs794726793, rs760361423, rs794726796, rs794726762, rs35595680, rs764444350, rs794726848, rs786205214, rs794729200, rs794729207, rs796053029, rs796053014, rs796053010, rs796053004, rs796053001, rs796052973, rs779184118, rs781746113, rs796052961, rs796052957, rs863225037, rs863225036, rs863225035, rs863225034, rs863225033, rs863225032, rs863225030, rs863225038, rs863225031, rs869312670, rs869312684, rs886039430, rs121917959, rs886041980, rs886042528, rs781507889, rs1057517959, rs1057518671, rs1057519533, rs1057519534, rs1057519530, rs1057519531, rs1060502189, rs1064794766, rs748759187, rs368609628, rs1553345874, rs121918795, rs1266877537, rs1553266166, rs1553522321, rs1553543215, rs1553525325, rs1553520530, rs1553544470, rs1553551493, rs1553553462, rs1553560831, rs201966711, rs537026414, rs1559101839, rs1559114303, rs1559149128, rs1553553527, rs1569006250, rs781657502, rs1574370981, rs1366966423, rs1574312497, rs796053036, rs1573949198, rs1573953706, rs1573963975, rs1573973548, rs1573984110, rs1574005699, rs1574007140, rs1574052179, rs1574069132, rs1574166948, rs1574168611, rs1574183148, rs886041292, rs1574208760, rs1574209023, rs1574217232, rs1553545567, rs796053094, rs1574240716, rs1553549471, rs1574264920, rs1574266816, rs1574271602, rs1574271644, rs1574291210, rs1574371141, rs1574371902, rs796052488, rs1581220163, rs1196223064, rs1574182550, rs1573953030, rs1574201555, rs1574281711, rs1696401617, rs1692166604, rs1574006637, rs1689139851, rs1689186812, rs1689309551, rs1689680658, rs1697997770, rs1698732089, rs1698941202, rs1697667767, rs1691073965, rs1698009615	12928862
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18545987
Seizure	Tonic - clonic seizures, SEIZURES, BENIGN FAMILIAL INFANTILE, 5	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy			GenCC
Diabetes	Diabetes			GWAS
Mental Depression	Mental Depression			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	37648039
Amyotrophic Lateral Sclerosis	Associate	34107252
Autism Spectrum Disorder	Associate	31177578
Autistic Disorder	Associate	31177578
Bipolar Disorder	Associate	21176025
Brain Diseases	Associate	29852413, 31177578, 33784504
Carpal Tunnel Syndrome	Associate	9579905
Convulsions benign familial neonatal dominant form	Associate	25052858, 25524373, 29852413, 33784504
Developmental Disabilities	Associate	29852413, 31177578, 31238879, 33004838, 33799276
Diabetic Neuropathies	Associate	36430572
Early Onset Glaucoma	Associate	40180227
Ependymoma	Associate	34474328
Epilepsies Myoclonic	Associate	22612257
Epilepsy	Associate	10441581, 10781098, 25524373, 31177578, 33799276, 34153113, 36849527, 37429183, 40180227
Epilepsy Benign Neonatal	Associate	10781098, 20384724, 33784504
Epileptic Encephalopathy Early Infantile 3	Associate	35377796
Epileptic Syndromes	Associate	10781098, 25524373
Fabry Disease	Associate	40233852
Hypokalemic Periodic Paralysis	Associate	21891927
Intellectual Disability	Associate	25524373, 33799276
Learning Disabilities	Associate	31177578
Lymphatic Metastasis	Associate	37648039
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Mood Disorders	Inhibit	32120974
Neoplasm Metastasis	Inhibit	37648039
Neurologic Manifestations	Associate	25524373
Pain	Associate	35806193
Peripheral Nervous System Diseases	Associate	35806193
Pulmonary Arterial Hypertension	Associate	34349187
Seizures	Associate	25524373, 31177578, 37429183
Small Fiber Neuropathy	Associate	36430572
Vision Disorders	Associate	26350515