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:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IBA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	11159685, 27564677, 28793216
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27564677
GO:0005516	Function	Calmodulin binding	IDA	27564677
GO:0005516	Function	Calmodulin binding	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	IDA	10788442, 11159685
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	16525039
GO:0005886	Component	Plasma membrane	TAS
GO:0006605	Process	Protein targeting	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9425900
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11159685, 27564677, 28793216
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016322	Process	Neuron remodeling	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0021675	Process	Nerve development	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28793216
GO:0030182	Process	Neuron differentiation	IEA
GO:0033268	Component	Node of Ranvier	IEA
GO:0033268	Component	Node of Ranvier	ISS	16525039
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0036343	Process	Psychomotor behavior	IEA
GO:0043194	Component	Axon initial segment	IEA
GO:0043194	Component	Axon initial segment	ISS	16525039
GO:0045202	Component	Synapse	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051882	Process	Mitochondrial depolarization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	11159685, 27564677
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097314	Process	Apoptosome assembly	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	IEA
GO:0098977	Process	Inhibitory chemical synaptic transmission	IEA
GO:0099610	Process	Action potential initiation	IEA
GO:0099611	Process	Regulation of action potential firing threshold	IEA
GO:1903701	Process	Substantia propria of cornea development	IEA

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Benign neonatal seizures	Likely pathogenic; Pathogenic	rs2130121106, rs118192250, rs1162306056, rs2130128566, rs1282879239, rs2130944386, rs762289015, rs796052678, rs796052676, rs2536943945, rs2536952593, rs2537398144, rs1448580874, rs2536875506, rs2536952207, rs2536921416, rs118192251, rs749205120, rs1554627019, rs1563767053, rs1459374430, rs1586800133, rs1563764788, rs1826288852, rs1174348338, rs1826416962, rs1204519015	RCV001378943 RCV001378393 RCV001869626 RCV001966051 RCV001867178 RCV002007389 RCV002000206 RCV001852468 RCV001042557 RCV002838210 RCV003044809 RCV003586711 RCV003586869 RCV003587134 RCV003587818 RCV003750126 RCV000462450 RCV001059339 RCV000647885 RCV000685942 RCV000813464 RCV000818357 RCV001043722 RCV001041672 RCV001056634 RCV001044522 RCV001058007 RCV001203500	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs796052676	RCV001257743 RCV001257730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNQ3-related Autism and developmental disability	Likely pathogenic; Pathogenic	rs796052676	RCV004799197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNQ3-related developmental disability	Likely pathogenic; Pathogenic	rs796052676	RCV002273976	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNQ3-related disorder	Likely pathogenic; Pathogenic	rs1586800133, rs1162306056	RCV003413649 RCV003413871	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lennox-Gastaut syndrome	Likely pathogenic; Pathogenic	rs796052676	RCV001249311	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs796052676	RCV004786513	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic; Likely pathogenic	rs777833596, rs2536943817, rs749205120	RCV002276343 RCV004579657 RCV005624404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures, benign familial infantile, 5	Likely pathogenic; Pathogenic	rs796052676	RCV000824975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures, benign familial neonatal, 2	Likely pathogenic; Pathogenic	rs2130121430, rs1162306056, rs2130134022, rs796052676, rs118192250, rs1295477856, rs118192249, rs118192251, rs1064794632, rs749205120, rs1554626549, rs1554627439, rs1459374430, rs1586800133, rs1204519015, rs1822523749	RCV001771817 RCV001814621 RCV001814623 RCV000210407 RCV000007816 RCV003326111 RCV000020601 RCV000020602 RCV001814160 RCV001004714 RCV001814169 RCV000585872 RCV003389832 RCV000853346 RCV001814261 RCV001291726 RCV001293850	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1554626549	RCV000656019	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs796052676	RCV003223394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe neurodevelopmental delay	Likely pathogenic; Pathogenic	rs796052676	RCV000824686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE EPILEPSY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neonatal Epilepsy	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early Infantile Epileptic Encephalopathy, Autosomal Dominant	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early Infantile Epileptic Encephalopathy, Autosomal Recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN NEONATAL EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE MYOCLONIC EPILEPSY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNQ3-associated disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34107252	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31177578	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	31177578	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	10716662		★☆☆☆☆ Found in Text Mining only
Benign familial infantile epilepsy	Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign familial neonatal epilepsy	Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Benign neonatal epilepsy	Benign Epilepsy	BEFREE	18625963, 24375629		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	22884718		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21176025, 25041603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21176025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21176025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	25041603		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29852413, 31177578, 33784504	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25041603		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	9579905	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	BEFREE	15596769, 20384724, 29852413		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30246810		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29852413, 31177578, 31238879, 33004838, 33799276	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30782577, 31177578		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31324766		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	36430572	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25740509		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22612257	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10441581, 10788442, 10941184, 10996506, 11579435, 12928862, 14640909, 17475800, 18238816, 20384724, 24375629, 25524373, 25740509, 2918897, 30578330, 31373759, 9872318		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	10441581, 10781098, 25524373, 31177578, 33799276, 34153113, 36849527, 37429183, 40180227	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	18625963		★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	10781098, 20384724, 33784504	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	10716662, 17049761, 19344764, 19818940, 19822871, 19863579, 22275249, 24318194, 25052858, 25524373, 25740509, 29383681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	UNIPROT_DG	10852552, 14534157, 25982755, 9425900, 9872318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Generalized	Epilepsy	BEFREE	12890507		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	18625963, 19464834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	19453707		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31283873		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35377796	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11579435		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	10446744, 10774989, 10788442, 10852552, 10941184, 11579434, 11784811, 11888238, 12383278, 12395102, 12707061, 12928862, 14534157, 15030501, 15178210, 16235065, 17435769, 17475800, 18249525, 18483067, 19167866, 19453707, 19464834, 22884718, 23073245, 23146207, 24375629, 2918897, 30782577, 31283873, 7647781, 8796880, 9579905, 9872318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign neonatal epilepsy	Benign Epilepsy	ORPHANET_DG	23360469, 24375629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	10896263		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29852413		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10363917, 10691109, 10941184, 10996506, 9677360		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	17049761, 19464834		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20384724, 25524373, 31283873		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25524373, 33799276	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10691109, 12928862, 8796880		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	12928862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	12928862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning disorders	Pubtator	31177578	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	18238816		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37648039	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	16168594		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	32120974	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30246810		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31283873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35806193	Associate	★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18545987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18545987		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	25524373, 31177578, 37429183	Associate	★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	Seizure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	18483067		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	7647781		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only