KCNQ2 (potassium voltage-gated channel subfamily Q member 2)

Gene

• Entrez ID: 3785
• Gene name: Potassium voltage-gated channel subfamily Q member 2
• Gene symbol: KCNQ2
• Synonyms (NCBI Gene): BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801545	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs28939683	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs28939684	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs74315390	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs74315391	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs74315392	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs117067974	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192185	T>C	Likely-pathogenic, pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs118192186	A>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs118192187	CACC>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192188	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192189	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192190	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs118192197	CGGAGCGCAG>T	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs118192198	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192199	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192200	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192201	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192202	T>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192203	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs118192204	G>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant, genic upstream transcript variant
rs118192205	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192206	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192207	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192208	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs118192209	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192210	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192211	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192212	AAG>-	Pathogenic, benign	Coding sequence variant, inframe deletion, genic upstream transcript variant
rs118192213	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192214	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs118192215	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192216	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192217	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192221	A>C	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant, intron variant
rs118192222	TT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, genic upstream transcript variant
rs118192223	A>C	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs118192224	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs118192225	C>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs118192226	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant
rs118192228	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs118192237	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs118192238	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs118192239	G>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, intron variant
rs118192240	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192241	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192242	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192243	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192244	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192245	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192246	->GGCCC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs139164500	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs148654588	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs201868078	G>A,C	Pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs369438374	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs374877247	G>A	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs397514582	C>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs552807375	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs559610397	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs570139975	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs587777219	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs587780365	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs587780367	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs587780369	C>A	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs727503973	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs727503974	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs747050726	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs752073942	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, synonymous variant
rs752280961	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs756007198	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs756921902	T>C,G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs766755499	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs770187706	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs770290221	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs771282785	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs772405187	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs775918190	G>A,C,T	Likely-benign, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs777257591	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs777916008	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, genic downstream transcript variant
rs794727134	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794727740	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794727741	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs794727813	C>A,G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794729197	->GGT	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion
rs796052613	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs796052614	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052619	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052620	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052621	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052622	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052623	G>A	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052624	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052625	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052626	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052627	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052629	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052630	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052631	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052632	A>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052633	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs796052634	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052635	A>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052636	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052637	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052641	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052642	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052643	G>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052649	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796052657	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs796052658	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs796052664	GA>AGG	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs796052666	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs796052667	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs796052668	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs796052670	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs797044935	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs797044938	C>A,G	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs797045638	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321706	A>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321707	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321708	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321709	C>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321711	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs868055567	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs878855236	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886039485	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886041262	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs886041339	G>-,GG	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs886041608	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041890	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886042010	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs897976020	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057516082	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516083	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516084	CCG>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1057516085	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516086	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516087	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516088	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516089	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516090	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516091	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516092	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516093	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516094	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516095	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516096	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516097	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516098	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516099	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516100	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516102	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516103	T>C,G	Pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057516113	T>-	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1057516114	CT>-	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516115	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1057516116	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516117	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516118	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516121	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1057518068	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518489	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518492	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518555	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518619	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518662	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057518668	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057519124	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057519535	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057519536	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057523728	A>G,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057524599	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057524860	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1060499544	CGG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs1060500602	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1060500603	->CTGGCGC	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064793317	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064793852	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064794001	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1064794063	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064794686	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064795058	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064795489	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064796535	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064797284	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1085307905	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1085307920	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691356	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691658	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1131691734	G>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1131691936	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1178354607	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1339542565	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1555850151	->GCCCA	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850403	TCCTCGTGGTCCAC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850512	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850590	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850842	->G	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850868	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851445	TCTCCACCTTCCCGAGCCGTCCCATCATGCT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851513	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851516	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555851550	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853970	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853971	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853977	CTTTGA>-	Pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1555853983	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555854036	AAACTCGCAGGGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555854643	GGACCCCTTCCCCTTGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555860693	A>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555869700	G>A,C	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555869758	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555869796	AGTGC>CCTGCTGCCGGG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555869803	G>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555870346	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice donor variant
rs1555870470	->G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555870506	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555870554	T>A,G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871832	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871853	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555871862	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871915	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555873656	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555873665	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555873683	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555873813	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555873823	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555881741	G>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555881809	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568864658	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1568899375	C>T	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1568925507	->TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC	Pathogenic	Genic upstream transcript variant, coding sequence variant, inframe insertion
rs1568925523	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568927747	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568927820	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568932480	->AG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568940442	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568986619	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1600714727	C>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1600751236	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600755440	T>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600766500	->TGTCA	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1600767259	->CCA	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe insertion
rs1600785769	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600786071	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600886270	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601542417	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601542702	GG>T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601544177	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1601545088	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601548832	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601548976	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601573302	TGGGGCTGTC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019416	hsa-miR-148b-3p	Microarray	17612493
MIRT020071	hsa-miR-375	Western blot;qRT-PCR;Microarray	20584986
MIRT030213	hsa-miR-26b-5p	Microarray	19088304
MIRT1082224	hsa-miR-3922-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
REST	Repression	20926649
SP1	Activation	20926649

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	9836639, 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, 28793216, 33961781
GO:0005516	Function	Calmodulin binding	IDA	27564677
GO:0005886	Component	Plasma membrane	IDA	9836639, 10788442
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	16525039
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9425895
GO:0007399	Process	Nervous system development	TAS	9425895
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	9836639, 27564677, 28793216
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28793216
GO:0030506	Function	Ankyrin binding	IPI	16525039
GO:0033268	Component	Node of Ranvier	ISS	16525039
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043194	Component	Axon initial segment	ISS	16525039
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9836639, 27564677
GO:0071805	Process	Potassium ion transmembrane transport	IEA

Other IDs

• MIM: 602235
• HGNC: 6296
• e!Ensembl: ENSG00000075043

Protein

• UniProt ID: O43526
• Protein name: Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)
• 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:24277843, PubMed:28793216, PubMed:9836639). M-channel is composed of pore-forming subuni
• PDB: 5J03, 6FEG, 6FEH, 7CR0, 7CR1, 7CR2, 7CR3, 7CR4, 7CR7, 8IJK, 8IZY, 8J00, 8J01, 8J02, 8J03, 8J04, 8J05, 8W4U, 8X43, 8XO1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	91 → 324	Ion transport protein	Family
  PF03520	KCNQ_channel	466 → 651	KCNQ voltage-gated potassium channel	Family
  PF16642	KCNQ2_u3	665 → 756		Disordered
  PF11956	KCNQC3-Ank-G_bd	768 → 868	Ankyrin-G binding motif of KCNQ2-3	Family

• Tissue specificity: TISSUE SPECIFICITY: In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal cord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undiff
• Sequence:

  MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAG
  GAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEK
  SSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASI
  AVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
  LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
  GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTW
  QYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP
  CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
  PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSI
  RAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
  DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFG
  AKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
  QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGN
  LRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD
  TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK

• 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
Abnormal facial shape	Likely pathogenic; Pathogenic	rs796052641	RCV001089685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Absent speech	Likely pathogenic; Pathogenic	rs773171451	RCV001003634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Likely pathogenic; Pathogenic	rs796052641	RCV001089685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Likely pathogenic	rs2516310445	RCV003156204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 10	Pathogenic	rs864321707	RCV002510569	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign Rolandic epilepsy	Likely pathogenic; Pathogenic	rs118192212	RCV000678098	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2145921196, rs2145719551, rs864321706, rs727503974, rs2516420994, rs773171451, rs796052641, rs74315390, rs118192211, rs796052625, rs796052623, rs796052621, rs796052619, rs796052618, rs118192212, rs794727813, rs864321707, rs864321710, rs28939683, rs28939684, rs74315391, rs118192200, rs886041262, rs1600755607, rs2516420288, rs118192235, rs118192199, rs118192202, rs118192204, rs118192205, rs118192215, rs118192216, rs1057516123, rs1057516095, rs1057516086, rs1057516085, rs1060500602, rs1131691518, rs796052636, rs1057523728, rs1555873665, rs1555873985, rs2081358611, rs2081102604	RCV003315371 RCV003315372 RCV003315373 RCV003315308 RCV003315375 RCV003315322 RCV003315320 RCV003315319 RCV003315318 RCV003315317 RCV003315316 RCV003315315 RCV003315314 RCV003315313 RCV003315329 RCV003315331 RCV003315333 RCV003315332 RCV003315334 RCV003315290 RCV003315291 RCV003315292 RCV003315293 RCV003315294 RCV003315336 RCV003315388 RCV003315390 RCV003315296 RCV003315300 RCV003315301 RCV003315302 RCV003315303 RCV003315304 RCV003315305 RCV003315306 RCV003315343 RCV003315341 RCV003315340 RCV003315339 RCV003315345 RCV003315348 RCV003315349 RCV003315347 RCV003315350 RCV003315351 RCV003315366 RCV003315367	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2080187424, rs2081363375, rs2080907267, rs1057516100, rs2145541173, rs2145547478, rs1057516104, rs2145712459, rs864321707, rs2145736858, rs796052621, rs2145778708, rs6089914, rs2145481803, rs2145484794, rs2145488506, rs2145636962, rs886042605, rs2145679099, rs2145679115, rs2080905274, rs2145680059, rs2145712063, rs143399744, rs2145736248, rs2145736578, rs2145774742, rs2145778884, rs2145779397, rs2145921462, rs587777219, rs2145735982, rs2145774638, rs2145779858, rs2145487908, rs1272165811, rs2145774426, rs2145774901, rs2145921332, rs2145775614, rs2145719805, rs2145779552, rs2145547234, rs1064797284, rs2145680143, rs2145712498, rs1057518772, rs2145921283, rs2145482327, rs2145789008, rs2145548219, rs2145484269, rs2145718887, rs2145555670, rs2145779418, rs118192206, rs2145774465, rs2145789820, rs2145486022, rs2145557228, rs2145789182, rs2145921876, rs2145637609, rs2145736444, rs1057516123, rs2145556764, rs2145779218, rs1057517919, rs1555870470, rs780872303, rs2145637412, rs2145774563, rs2145775420, rs2145789339, rs2145483403, rs1555870346, rs1600785769, rs397514581, rs866273848, rs118192208, rs864321706, rs2516364978, rs727503974, rs2516167608, rs1057516082, rs2516420994, rs794727740, rs2516511380, rs1568890288, rs797045638, rs864321709, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs118192218, rs796052641, rs796052640, rs775918190, rs118192211, rs796052636, rs74315392, rs796052626, rs796052623, rs796052620, rs796052618, rs796052617, rs796052663, rs2516512439, rs797044938, rs2516177430, rs2516742945, rs2516095389, rs2516167961, rs796052649, rs2516534189, rs760984494, rs2516504625, rs2516098402, rs2516364365, rs2516505136, rs2516504404, rs2516534539, rs2516502005, rs2516745503, rs118192212, rs2516408449, rs118192195, rs2516746009, rs2516447397, rs1601572654, rs1600755607, rs2516117508, rs2080781132, rs2516502770, rs372800424, rs2516117056, rs2516364432, rs2516511491, rs2516362777, rs864321712, rs2516447970, rs1064797285, rs2516503480, rs74315390, rs28939684, rs74315391, rs118192244, rs118192200, rs878855236, rs118192236, rs886041339, rs886041262, rs2516104486, rs2516418427, rs2516420288, rs796052639, rs2516418487, rs2516419336, rs2516117275, rs2516100536, rs2516534141, rs2516447288, rs2516743879, rs2081186625, rs2145774598, rs2516365119, rs2516409196, rs2516501540, rs2516167273, rs2516237462, rs2516168233, rs2081191454, rs2516176081, rs1409265816, rs2516410133, rs118192225, rs2516102200, rs2516446102, rs766608647, rs2516187638, rs2516177505, rs2516094689, rs2516501169, rs2516119519, rs1060499545, rs2516099742, rs2516105014, rs2516089906, rs2516510450, rs118192216, rs2516421256, rs2516419508, rs2516418712, rs2516102833, rs2516502104, rs2516747811, rs2516095055, rs2516167210, rs2516185103, rs2516102657, rs2516185345, rs2516364667, rs892572733, rs2516364470, rs35450031, rs1555873665, rs118192185, rs2516364122, rs2516742602, rs2516105418, rs2145775795, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192235, rs118192242, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192215, rs118192239, rs1555850151, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516101, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518489, rs1057524599, rs796052655, rs1060500603, rs1060500602, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1085307463, rs1085307920, rs1131691936, rs1057523728, rs1555873985, rs1555881741, rs1555850590, rs1555869758, rs1555873823, rs794727813, rs1555870554, rs1555871832, rs1555881809, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1568940442, rs1568986619, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1600714727, rs1600786349, rs2145542277, rs2516187432, rs1057516090, rs770904422, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs2080693649, rs2080696874, rs2081190512, rs2081190344, rs1600789325, rs867848081, rs267606051, rs2080210194, rs2080213813, rs2080239750, rs2080239833, rs2080240053, rs2080245264, rs2080906700, rs796052631, rs1371722284, rs2081442073, rs2080191127, rs772669887, rs2081098548, rs1057516095, rs2081191595, rs2081358317, rs2082240394, rs2081437856, rs200395340, rs2082233410, rs2079980257, rs2081187965, rs2081097112, rs1185859533, rs2081101244, rs2081442293, rs796052619, rs2081102604, rs2079959227, rs2081099858	RCV001322379 RCV001320404 RCV001348519 RCV001369733 RCV001379978 RCV001378502 RCV001377088 RCV001377699 RCV001376950 RCV001376998 RCV001377908 RCV001378218 RCV001379620 RCV001381902 RCV001386907 RCV001383652 RCV001389993 RCV001386546 RCV001384048 RCV001390344 RCV001387989 RCV001388325 RCV001382919 RCV001390661 RCV001388161 RCV001384204 RCV001385238 RCV001390664 RCV001387280 RCV001388486 RCV001056302 RCV001885185 RCV002544298 RCV002543284 RCV001874478 RCV001966226 RCV001990517 RCV001928282 RCV001999789 RCV001991021 RCV001985805 RCV002040728 RCV001939444 RCV002028070 RCV001964146 RCV001950765 RCV001886814 RCV001972683 RCV001908588 RCV002017134 RCV002000181 RCV002002431 RCV001993226 RCV002037748 RCV002000111 RCV001983792 RCV002007451 RCV001929666 RCV001941903 RCV001941913 RCV001953445 RCV001951041 RCV001972359 RCV001894110 RCV001995951 RCV001949474 RCV001956436 RCV001995037 RCV001972565 RCV002050994 RCV001982939 RCV002020910 RCV002047259 RCV001959118 RCV001948640 RCV001967529 RCV001975035 RCV001997743 RCV003753217 RCV003094029 RCV005095985 RCV003588801 RCV002303397 RCV000636323 RCV003753247 RCV003064617 RCV003061638 RCV000555510 RCV002577618 RCV002618100 RCV002710198 RCV002710737 RCV000636309 RCV003753101 RCV003588591 RCV000810995 RCV002517873 RCV000462637 RCV001857621 RCV000706752 RCV000551309 RCV002514017 RCV000226746 RCV001863912 RCV001376923 RCV000694219 RCV001056663 RCV005089941 RCV001059171 RCV000473067 RCV001377992 RCV002517872 RCV001229923 RCV000802499 RCV000807499 RCV000808224 RCV001386878 RCV001232372 RCV003588592 RCV002807001 RCV001857675 RCV002824222 RCV002791124 RCV002819783 RCV002811010 RCV002856178 RCV002842978 RCV002837540 RCV002843310 RCV002843367 RCV002870739 RCV002875669 RCV002885103 RCV002863074 RCV002889462 RCV002875883 RCV001381685 RCV002867387 RCV002877150 RCV002894781 RCV002917398 RCV003015532 RCV002944269 RCV002994079 RCV002996627 RCV003006396 RCV003022870 RCV003013708 RCV003025883 RCV003023745 RCV003027429 RCV000545675 RCV000820061 RCV003047079 RCV003039725 RCV003032735 RCV001245227 RCV001851725 RCV000636312 RCV001059860 RCV001389321 RCV001205287 RCV000227131 RCV001222134 RCV003588607 RCV000699430 RCV002519059 RCV003779868 RCV001056524 RCV003588886 RCV003753268 RCV003588892 RCV003588893 RCV003588901 RCV003589002 RCV003589770 RCV003589830 RCV003588955 RCV003589000 RCV003589659 RCV003589738 RCV003589972 RCV003589859 RCV003589906 RCV003590751 RCV003590502 RCV003588124 RCV003589441 RCV003590188 RCV003589468 RCV003590167 RCV003590170 RCV003590155 RCV003590258 RCV003589384 RCV003590405 RCV003590998 RCV003591056 RCV003591089 RCV003590441 RCV003591098 RCV003753368 RCV003753369 RCV003754088 RCV003754078 RCV003754082 RCV003754208 RCV003754101 RCV003754245 RCV003754274 RCV003754306 RCV003754261 RCV003754389 RCV003754503 RCV003754565 RCV003754476 RCV003754588 RCV003754590 RCV003754443 RCV003754821 RCV003754734 RCV003754611 RCV003754664 RCV003754801 RCV003754842 RCV003752636 RCV003752660 RCV003752872 RCV003753674 RCV003753717 RCV005103185 RCV002513153 RCV000800574 RCV003588564 RCV000463586 RCV000534709 RCV001248564 RCV000636351 RCV000792605 RCV001381683 RCV000552408 RCV001851982 RCV005089292 RCV001057270 RCV000692591 RCV001066784 RCV001221931 RCV001851984 RCV000234346 RCV001226409 RCV002513155 RCV001047068 RCV001050636 RCV000636293 RCV000813877 RCV003588565 RCV001861357 RCV001850942 RCV003588622 RCV003588621 RCV001861356 RCV002523838 RCV001381684 RCV001037300 RCV000466204 RCV001865254 RCV001294297 RCV005090641 RCV000697424 RCV005090640 RCV001861355 RCV003588619 RCV001377685 RCV005090677 RCV001865397 RCV001972814 RCV000464451 RCV000471825 RCV001389017 RCV000694810 RCV005090938 RCV001055167 RCV003753122 RCV002527006 RCV001070007 RCV001340746 RCV001248008 RCV001203282 RCV002527074 RCV002525240 RCV001384184 RCV000543835 RCV000558218 RCV000525803 RCV000533623 RCV001860006 RCV005091456 RCV000698323 RCV001379936 RCV001867902 RCV000809476 RCV001860201 RCV002529812 RCV000636285 RCV000636284 RCV000636429 RCV000636259 RCV000636258 RCV000702811 RCV000703674 RCV000699055 RCV000686133 RCV000702664 RCV000690666 RCV000684929 RCV000693058 RCV000696216 RCV000700920 RCV001322352 RCV002535379 RCV000797717 RCV000823209 RCV000803676 RCV000801187 RCV000798650 RCV000815397 RCV000804905 RCV000798112 RCV000803845 RCV000821702 RCV000806988 RCV000815668 RCV003768630 RCV001217211 RCV001068618 RCV002549209 RCV002549258 RCV001860566 RCV001359461 RCV003753165 RCV003753166 RCV001064483 RCV001047786 RCV001066108 RCV001063329 RCV001037214 RCV001059978 RCV001062129 RCV001055610 RCV001057610 RCV001043199 RCV001060510 RCV001070990 RCV001873445 RCV003753167 RCV001389467 RCV001215405 RCV001863144 RCV002876411 RCV001218484 RCV001219597 RCV001216548 RCV001222757 RCV001214867 RCV001220847 RCV001221700 RCV001217272 RCV001216111 RCV001214774 RCV001214369 RCV001203132 RCV001211058 RCV001212432 RCV001211396 RCV001208395 RCV001201982 RCV001202410 RCV001203459 RCV001238089 RCV001225875 RCV001245191 RCV001242875 RCV001244579 RCV003753169 RCV001879862 RCV003588727 RCV001362099 RCV002541583 RCV001383920 RCV003753172 RCV001298905	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 1	Pathogenic; Likely pathogenic	rs796052657, rs118192197, rs2080906453, rs2081188385, rs2082232988	RCV001252033 RCV000678081 RCV001252032 RCV001252029 RCV001252031	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 7	Likely pathogenic; Pathogenic	rs2080187424, rs368130496, rs796052657, rs2145774625, rs2145541173, rs2145718961, rs587777219, rs796052633, rs942541730, rs2145776110, rs2145921606, rs2145680256, rs2145637592, rs756360226, rs1339542565, rs2145789218, rs2145547209, rs2145774638, rs2145789722, rs587780365, rs1064797284, rs2145637412, rs2145775795, rs2145922320, rs2145779680, rs2081191454, rs892572733, rs796052617, rs2145719551, rs759584387, rs2516418447, rs570940951, rs864321706, rs1555853593, rs727503974, rs2516096143, rs1057516098, rs1057516096, rs794727740, rs794729197, rs796052665, rs796052655, rs796052654, rs796052653, rs796052652, rs773171451, rs796052645, rs796052643, rs796052641, rs74315390, rs775918190, rs118192211, rs74315392, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs118192212, rs797045638, rs794727813, rs864321711, rs864321709, rs864321707, rs864321708, rs864321710, rs74315391, rs267607198, rs118192244, rs118192200, rs2516743666, rs2081187692, rs1057516083, rs2516502806, rs1555870554, rs118192236, rs886041339, rs886041262, rs2516185027, rs118192221, rs1057518500, rs2516418427, rs796052639, rs2516447000, rs2516421132, rs2516095868, rs2516177016, rs2081101244, rs118192222, rs118192226, rs118192234, rs118192245, rs118192194, rs118192199, rs118192203, rs118192215, rs1555853971, rs1057516103, rs1057516101, rs1057516100, rs1057516099, rs756921902, rs1057516095, rs1057516094, rs1057516093, rs1057516087, rs1057516086, rs1057516085, rs1057516082, rs1057516079, rs1057516077, rs1057518489, rs1057518772, rs1057518662, rs1057518668, rs1060500602, rs1064795489, rs1085307920, rs1057523728, rs1131691936, rs1555853977, rs1057516081, rs1555873985, rs397514581, rs397515420, rs397514582, rs118192217, rs1555871832, rs1555869700, rs1392647178, rs1568925719, rs770187706, rs1568925507, rs1600732174, rs118192205, rs1600786349, rs1600751236, rs2516093868, rs2516447591, rs1057516090, rs2081362775, rs2080696874, rs1600789325, rs796052631, rs2080906453, rs2080905274, rs2081189736, rs2081186625, rs2081442293, rs796052619, rs2081363302, rs2081102604, rs1568940442	RCV003322620 RCV001330502 RCV001337054 RCV001353224 RCV001420161 RCV001788541 RCV000106299 RCV001706918 RCV001775297 RCV001786537 RCV001786538 RCV001786539 RCV001786540 RCV001786542 RCV001824180 RCV001786546 RCV001786547 RCV001786548 RCV001806428 RCV000117334 RCV002272564 RCV002250792 RCV002052179 RCV002221973 RCV002244274 RCV002244299 RCV002254538 RCV002267678 RCV002275697 RCV002283725 RCV002288327 RCV002288412 RCV002289055 RCV002291065 RCV000203603 RCV002466343 RCV002468419 RCV002472132 RCV000179032 RCV000184016 RCV000678195 RCV000678194 RCV001194617 RCV000678190 RCV000678189 RCV000678188 RCV000678187 RCV000678185 RCV000678162 RCV000678206 RCV004786512 RCV003326126 RCV000678151 RCV000203604 RCV002470804 RCV000678132 RCV000203591 RCV000768251 RCV000678127 RCV000408747 RCV002478657 RCV002795890 RCV000234792 RCV000194723 RCV000196180 RCV000203584 RCV000203599 RCV000203598 RCV000203589 RCV000203583 RCV000203592 RCV002264637 RCV002255996 RCV001260874 RCV000030664 RCV000578304 RCV000678085 RCV003140580 RCV003148474 RCV003149134 RCV003152943 RCV003159540 RCV003225649 RCV003225700 RCV000678196 RCV004798823 RCV000408715 RCV000454413 RCV003326721 RCV003311578 RCV005254757 RCV003314368 RCV003335838 RCV004006247 RCV004555331 RCV004579656 RCV004585155 RCV004594722 RCV004594723 RCV001253446 RCV003228898 RCV004798741 RCV005252693 RCV000763058 RCV001030036 RCV000178400 RCV000678101 RCV000678186 RCV000678181 RCV000678155 RCV000678152 RCV000678150 RCV000678149 RCV000678148 RCV000678146 RCV000678141 RCV000678140 RCV000678138 RCV000678131 RCV000678130 RCV000678129 RCV000678126 RCV000678123 RCV000678119 RCV000678117 RCV004760486 RCV001199299 RCV000414826 RCV000415050 RCV000853366 RCV004787784 RCV006261746 RCV004796195 RCV000585874 RCV001257437 RCV000497475 RCV000505231 RCV000760201 RCV000578224 RCV000763452 RCV000032980 RCV000032981 RCV000585861 RCV000585822 RCV000585840 RCV000623989 RCV005603644 RCV000681500 RCV001254917 RCV002275104 RCV000754629 RCV000789007 RCV000853266 RCV001786422 RCV001002798 RCV005029566 RCV001004712 RCV001004723 RCV001089747 RCV001089746 RCV001786432 RCV001263019 RCV001823009 RCV001253365 RCV001252990 RCV001253133 RCV001253451 RCV001704839 RCV001253151 RCV001253336 RCV001254894 RCV001257438 RCV001261990 RCV001262250	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epicanthus	Likely pathogenic; Pathogenic	rs796052641	RCV001089685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs1057517919	RCV005627865	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, benign neonatal, 1, and/or myokymia	Likely pathogenic	rs1057516106	RCV000853340	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs118192211, rs118192235, rs1057516099, rs1057516094, rs1057519535, rs1057519536, rs1555850842, rs1600755440, rs1600786071	RCV000417034 RCV000416983 RCV000416958 RCV000416991 RCV000417017 RCV000416952 RCV001003633 RCV001003635 RCV001003636	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized hypotonia	Pathogenic	rs397514582	RCV000627006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs773171451	RCV001003634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs587777219, rs796052626, rs796052618, rs1057518772, rs1555873985, rs2081190512	RCV001089803 RCV001089801 RCV001089802 RCV000415407 RCV001089799 RCV001089863	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNQ2-related disorder	Pathogenic; Likely pathogenic	rs143399744, rs1555850868, rs587777219, rs2145542063, rs2145778948, rs2145774465, rs773171451, rs118192211, rs796052618, rs118192212, rs864321707, rs118192200, rs2516097737, rs1600755607, rs2516418487, rs2516533290, rs2145775795, rs118192236, rs118192194, rs118192199, rs118192215, rs1057516077, rs1057517919, rs1555850842, rs1064793392, rs1057523728, rs1131691936, rs1555873985, rs1555871915, rs2081358611, rs1555881809	RCV004728704 RCV004536184 RCV000578260 RCV001733840 RCV003234109 RCV005250219 RCV004732758 RCV001265545 RCV004528968 RCV001836639 RCV002298526 RCV004732533 RCV003444114 RCV003336848 RCV003335849 RCV004534623 RCV003994887 RCV003335050 RCV001270883 RCV004528127 RCV005249994 RCV003315224 RCV004530496 RCV004530511 RCV003335347 RCV001563652 RCV003444106 RCV004527602 RCV001249752 RCV000656342 RCV001249288 RCV001265558	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Limb dystonia	Likely pathogenic; Pathogenic	rs773171451	RCV001003634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Likely pathogenic; Pathogenic	rs796052641	RCV001089685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal encephalopathy	Likely pathogenic	rs1555873982	RCV003154088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal/infantile epilepsy syndrome	Likely pathogenic; Pathogenic	rs28939684	RCV004786244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs773171451, rs2516419336	RCV001374917 RCV003389166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2145547497, rs587777219, rs2145774638, rs794727740, rs759584387, rs796052650, rs796052641, rs118192211, rs118192212, rs797044938, rs2516408449, rs74315391, rs118192244, rs2516743177, rs1241388377, rs118192217, rs118192226, rs118192236, rs118192215, rs118192216, rs1057516099, rs756921902, rs1057517919, rs1131691936, rs397514582, rs1600785769, rs1600789325, rs867848081, rs2080906700, rs2080191127, rs1057518500	RCV001391281 RCV004546432 RCV002275233 RCV000192955 RCV001251207 RCV006255161 RCV001089685 RCV004577325 RCV000194164 RCV000192641 RCV004554888 RCV005624281 RCV005624282 RCV003384297 RCV004555140 RCV002274886 RCV000720328 RCV004554609 RCV005624310 RCV005624311 RCV005624399 RCV002275018 RCV002275019 RCV001526620 RCV000627006 RCV001003342 RCV005624452 RCV001201162 RCV004556835 RCV004556834 RCV002265966	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures, benign familial neonatal, 1	Pathogenic; Likely pathogenic	rs368130496, rs796052657, rs2145712576, rs587777219, rs2145680256, rs2145637592, rs756360226, rs1339542565, rs2145789218, rs2145547209, rs2145774638, rs2145712758, rs2145779858, rs794727739, rs1057516091, rs397514581, rs866273848, rs2145921196, rs118192208, rs2145719551, rs2516364978, rs2516188853, rs727503974, rs2516744396, rs796052653, rs759584387, rs796052650, rs118192218, rs796052641, rs74315390, rs118192211, rs74315392, rs796052626, rs796052623, rs796052621, rs796052617, rs796052663, rs796052615, rs118192212, rs118192195, rs864321707, rs777257591, rs864321712, rs28939683, rs28939684, rs74315391, rs267607198, rs118192244, rs118192200, rs886041339, rs1057518500, rs2516100518, rs2516447000, rs2516098080, rs1307396168, rs118192217, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192216, rs118192239, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs1057516098, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs118192231, rs1085307463, rs1085307920, rs1131691936, rs1555873985, rs397514582, rs1555850403, rs770187706, rs1057518555, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1600786349, rs2516093868, rs2516102768, rs2145542277, rs2516187432, rs2516501836, rs1057516090, rs1600732174, rs1600789325, rs2082235501, rs2080191127, rs1185859533, rs796052619, rs2081377258, rs2081363302, rs1568940442, rs2079959227	RCV001786475 RCV003992501 RCV001391231 RCV000768250 RCV001786539 RCV001786540 RCV001786542 RCV001786544 RCV001786546 RCV001786547 RCV001786548 RCV001800252 RCV001843826 RCV002250064 RCV002250065 RCV002250066 RCV002250067 RCV002254143 RCV002274438 RCV002281587 RCV002290088 RCV002290236 RCV002281562 RCV002470193 RCV000763450 RCV000203596 RCV000678183 RCV003223393 RCV004782293 RCV003326126 RCV002281568 RCV003992216 RCV002273975 RCV000679892 RCV000768251 RCV002478657 RCV000678115 RCV000678114 RCV000990332 RCV004577960 RCV000763451 RCV000203593 RCV000203587 RCV000007806 RCV000007807 RCV000007810 RCV000678084 RCV000007813 RCV000007814 RCV000763453 RCV000211481 RCV001004684 RCV004813225 RCV003484210 RCV004006247 RCV004584246 RCV004586478 RCV000678052 RCV000678053 RCV000678054 RCV000678055 RCV000020970 RCV000678058 RCV000678060 RCV000678061 RCV000678062 RCV000678065 RCV000678066 RCV000678067 RCV000678069 RCV000678072 RCV000678073 RCV000678074 RCV000678078 RCV002269819 RCV000678083 RCV000678086 RCV000678087 RCV000990336 RCV000678089 RCV000678090 RCV000678093 RCV000678095 RCV000021015 RCV000678102 RCV000678110 RCV000678204 RCV000678193 RCV000678182 RCV000678172 RCV000678165 RCV000678159 RCV000678158 RCV000678157 RCV005027460 RCV000678134 RCV002248637 RCV000678121 RCV000678116 RCV000678171 RCV000678203 RCV000415727 RCV001095545 RCV001004707 RCV004796195 RCV001257437 RCV000760201 RCV000763452 RCV000678147 RCV000624351 RCV000678816 RCV002281579 RCV003987673 RCV000990329 RCV000990330 RCV000990331 RCV000990334 RCV000990335 RCV000990337 RCV001786422 RCV001004690 RCV001004721 RCV001004696 RCV001004668 RCV001004659 RCV001786424 RCV004794474 RCV001786432 RCV001194618 RCV001838424 RCV001253279 RCV001254894 RCV001254916 RCV001257438 RCV001786460 RCV001290204	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures, benign familial neonatal, 1, and/or myokymia	Pathogenic	rs74315391, rs118192200	RCV000007811 RCV000007815	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures, benign familial neonatal, 2	Pathogenic	rs267607198, rs74315392	RCV000678105 RCV000678092	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual deficiency	Pathogenic	rs1057516085	RCV000415385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Likely pathogenic; Pathogenic	rs727503974	RCV003488401	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE EPILEPSY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE SEIZURES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEONATAL EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal seizures	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Continuous spike and waves during slow sleep	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN NEONATAL EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNQ2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL-ONSET DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal central nervous system disorders	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	35177115	Associate	★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	35177115	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	34107252	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	38108335	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23849776, 30392976, 34948243, 35269516	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23849776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	31283873		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35780567, 37583270, 38108335	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	10716662		★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	16464983, 29942082		★☆☆☆☆ 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 familial neonatal-infantile seizures	Seizure	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal epilepsy	Benign Epilepsy	BEFREE	10774989, 12847176, 15030501, 15596769, 17140792, 18625963, 22884718, 28686619, 31418850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal epilepsy	Benign Epilepsy	LHGDN	15596769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal epilepsy	Benign Epilepsy	CTD_human_DG	19380078, 26910900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neonatal Epilepsy, Nonfamilial	Benign Epilepsy	BEFREE	18640800		★☆☆☆☆ Found in Text Mining only
Benign Neonatal Epilepsy, Nonfamilial	Benign Epilepsy	CTD_human_DG	19380078, 26910900		★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	CLINVAR_DG	18625963, 18640800, 22884718		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	22884718, 9579905		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar Disorder	BEFREE	16733521, 25041603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16733521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Crisis	Blast crisis	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	25041603		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	24107868	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23566103, 23621294, 23692823, 24107868, 25052858, 25524373, 25818041, 25880994, 26795593, 28133863, 28139826, 28733343, 28817111, 29314583, 31177578, 31199083, 31295832, 31951342, 32770121, 32863083, 33570938, 33616268, 33784504, 34711204, 35269516, 35584591, 35642783, 36849527, 36989566, 38108335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25041603		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	9579905	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	23849776	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	20805988, 27602407		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	20805988, 27602407		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	23692823, 29338302	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	33544076	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	40135319	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28133863		★☆☆☆☆ Found in Text Mining only
Continuous spike and waves during slow sleep	Continuous spike and waves during slow sleep	BEFREE	28038823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Convulsions in the newborn	Convulsions	BEFREE	10482260, 12742592, 14534157, 15596769, 20384724, 22169383, 23774309, 27861786, 28139826, 29455050		★☆☆☆☆ Found in Text Mining only
Convulsions, Benign Familial Infantile, 1	Convulsions	CTD_human_DG	19380078, 26910900		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27693347		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	28139826	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	20805988, 27602407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	26993267, 28139826, 31056551, 32585800, 33557955, 35104249, 35642783, 35780567	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	22169383		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10323247, 10781098, 11572947, 12742592, 14985406, 15608631, 16829045, 17675531, 17872363, 18238816, 20196795, 22169383, 22275249, 22926866, 23621294, 23849776, 24107868, 24318194, 25982755, 26795593, 26993267, 27602407, 27861786, 28602030, 29129156, 6965523, 8327138, 9425895, 9430594		★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	23621294, 24375629, 28687180, 31552204		★☆☆☆☆ Found in Text Mining only
Early myoclonic encephalopathy	Myoclonic Encephalopathy	BEFREE	28687180		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	22275249, 24107868, 24371303, 24375629, 25052858, 25740509, 25880994, 27861786, 28100740, 28602030, 28687180, 28728838, 28817111, 29067685, 30478917, 30530441, 30771507, 31152295, 31177578, 31418850		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	22084859		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	29314583, 30558019	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	39796146	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10323247, 10941184, 10996506, 11038262, 11579435, 12742592, 14640909, 14762142, 16158442, 16260777, 16464983, 16691402, 17181426, 17632785, 18238816, 18625963, 20351042, 20384724, 21156207, 22220513, 23065794, 23566103, 23849776, 24318194, 24371303, 24375629, 25524373, 25740509, 25819767, 26007637, 26022171, 26063916, 26138355, 26910900, 27535030, 27861786, 28038823, 28100740, 28399683, 28575529, 28602030, 28687180, 28926830, 29383681, 30771507, 31152295, 31487502, 31751548, 9425895		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	10781098, 21937445, 23065794, 23566103, 23692823, 23849776, 24107868, 24371303, 25524373, 26795593, 26802095, 28038823, 28837158, 29190809, 30977854, 31056551, 31199083, 32863083, 32884139, 33484326, 34020651, 34153113, 35104249, 35642783, 35780567, 36849527, 36989566, 37071954, 37095367, 37429183, 39796146, 40180227	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	LHGDN	16464983, 18625963		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CTD_human_DG	16464983, 29942082		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Absence	Absence epilepsy	Pubtator	35780567	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	10781098, 15030501, 16686649, 17382933, 20119593, 20384724, 21937445, 23065794, 23360469, 23566103, 23692823, 25982755, 27888506, 29215089, 31199083, 31418850, 32770121, 33784504, 35269516, 38160512, 39796146	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Neonatal, 1, And-Or Myokymia	Epilepsy, Benign And/Or Myokymia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	BEFREE	10716662, 16691402, 17049761, 17675531, 18238816, 19344764, 19818940, 19822871, 19863579, 22275249, 23290024, 23360469, 23621294, 24318194, 25052858, 25524373, 25740509, 25819767, 28038823, 28602030, 31552204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, BENIGN NEONATAL, 2	Epilepsy	CLINVAR_DG	12742592, 15249611, 17129708, 18625963, 19464834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	16464983, 29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	11739564, 8678111		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	18625963, 19464834		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	12742592, 22275249, 23692823, 23774309, 24318194, 24814476, 25052858, 25524373, 26007637, 27535030, 28100740, 28133863, 28602030, 30478917, 31283873, 31418850		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	23621294, 23692823, 31295832, 31418850, 33616268, 35104249, 35377796, 35856407, 36989566, 37071954, 37482918, 37659345, 39796146, 40292751	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36084525	Stimulate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET	Epileptic encephalopathy	BEFREE	28602030		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINVAR_DG	16235065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	17049761, 26022171		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21	Epileptic encephalopathy	CLINVAR_DG	14534157, 14985406, 23692823, 23934111, 25473036, 25740509, 25982755, 27779742		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	Epileptic encephalopathy	CLINVAR_DG	11572947, 12754513, 16039833, 17872363, 18353052, 22275249, 22926866, 23291709, 23440208, 23621294, 23692823, 23708187, 23934111, 24107868, 24318194, 24371303, 24463883, 25052858, 25092550, 25566516, 25740509, 25818041, 25880994, 25959266, 25982755, 26993267, 28133863, 28687180, 9425895, 9430594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	12742592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	Epileptic encephalopathy	UNIPROT_DG	12742592, 15249611, 24463883, 25740509, 25818041, 26138355, 26993267, 27864847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	Epileptic encephalopathy	ORPHANET_DG	23621294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	Epileptic encephalopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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	10323247, 10446744, 10482260, 10774989, 10788442, 10884071, 11038262, 11175290, 11572947, 11579434, 11726784, 11739564, 11784811, 11887968, 11888238, 12383278, 12395102, 12742592, 12847176, 14534157, 15030501, 15178210, 16039833, 16235065, 16260777, 16686649, 17129708, 17181426, 17435769, 17475800, 18483067, 19453707, 19464834, 19559753, 19818940, 20119593, 22220513, 22884718, 23065794, 23073245, 23692823, 24375629, 24586341, 25982755, 29215089, 31283873, 31418850, 7647781, 7705837, 8154876, 9425895, 9579905, 9872318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign neonatal epilepsy	Benign Epilepsy	CTD_human_DG	19380078, 26910900		★★☆☆☆ 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	BEFREE	12395102		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	LHGDN	12395102		★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	23849776		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18238816, 28602030, 28728838		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10363917, 10996506, 12458027, 18625963, 9677360		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23849776, 24318194, 25524373, 29338302		★☆☆☆☆ 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, 26022171		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	26138355, 27861786		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27693347		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15249611, 20384724, 22169383, 23566103, 24318194, 28602030, 31283873		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20384724, 23566103, 23621294, 24107868, 28038823	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10691109, 8796880		★☆☆☆☆ Found in Text Mining only
KCNQ2-related epileptic encephalopathy	Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	33616268, 35584591	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	35780567	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32770121, 35269516, 35780567	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	14640909, 18238816		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	16733521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	16733521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	16733521		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	35584591	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	GWASDB_DG	21642993		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15249611, 22169383		★☆☆☆☆ 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
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	33484326	Associate	★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	24107868		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor Neuron Disease	Motor neuron disease	Pubtator	33557955	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10323247, 10781098, 11572947, 12742592, 14985406, 15608631, 16829045, 17675531, 17872363, 18238816, 20196795, 22169383, 22275249, 22926866, 23621294, 23849776, 24107868, 24318194, 25982755, 26795593, 26993267, 27602407, 27861786, 28602030, 29129156, 6965523, 8327138, 9425895, 9430594		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29129156		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35584591	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	20805988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28837158, 31283873		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	31141688		★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	35584591	Associate	★☆☆☆☆ Found in Text Mining only
PAROXYSMAL EXTREME PAIN DISORDER	Paroxysmal extreme pain disorder	BEFREE	17049761		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	33570938	Associate	★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychomotor Agitation	Psychiatric disorders	Pubtator	32884139	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	24371303	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18545987, 23644028, 28525574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18545987, 23644028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	15030501, 23065794, 23566103, 23621294, 24107868, 24371303, 25982755, 28038823, 29314583, 31199083, 31618474, 31951342, 32863083, 33484326, 33544076, 33557955, 33570938, 33616268, 36849527, 36989566, 37429183, 38108335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	CTD_human_DG	19380078, 26910900		★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	BEFREE	23360469		★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	Seizure	CLINVAR_DG	10323247, 10482260, 10774989, 11175290, 11572947, 11690625, 11784811, 12754513, 12847176, 14534157, 14669214, 14985406, 15030501, 15178210, 15596769, 16260777, 16319223, 16686649, 16691402, 16916607, 16966552, 17129708, 17475800, 17993630, 18006581, 18246739, 19344764, 19559753, 19818940, 20119593, 21913284, 21937445, 22169383, 22275249, 23290024, 23360469, 23621294, 23708187, 24318194, 24375629, 25046240, 25959266, 25960349, 25982755, 9425895, 9430594, 9872318		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	Seizure	UNIPROT_DG	11175290, 11572947, 14534157, 15249611, 23360469, 25982755, 26993267, 9425895		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	Seizure	GENOMICS_ENGLAND_DG	12742592		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	Seizure	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA	Benign seizures and/or myokomia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Single Seizure	Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	23621294, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30146722		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	18483067, 21156207		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	22220513		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	35780567	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	27693347		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	7647781		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	28655139	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	27602407		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26138355, 27861786, 29455050		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked infantile spasms	Spasms X-Linked	CLINVAR_DG	11572947, 14534157, 16039833, 16916607, 22169383, 22275249, 22455920, 22926866, 23440208, 23621294, 23692823, 23708187, 24107868, 24318194, 24371303, 24375629, 25740509, 25880994, 25982755, 26446091, 26544041, 26993267, 27535030, 27602407, 27779742, 28133863, 28139826, 28283543, 28867141, 29190809		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	23621294, 24375629, 25880994, 28687180, 31552204		★☆☆☆☆ Found in Text Mining only