Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	3784
Gene name	Potassium voltage-gated channel subfamily Q member 1
Gene symbol	KCNQ1
Synonyms (NCBI Gene)	ATFB1ATFB3JLNS1KCNA8KCNA9KVLQT1Kv1.9Kv7.1LQTLQT1RWSSQT2WRS
Chromosome	11
Chromosome location	11p15.5-p15.4
Summary	This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated

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SNP ID	Visualize variation	Clinical significance	Consequence
rs179489	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs1800171	G>A,C,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant
rs12720457	G>T	Benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs12720458	A>G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs12720459	C>A,G,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs17215500	C>G,T	Pathogenic, uncertain-significance, not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs17221854	C>T	Risk-factor, pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs74462309	A>C,G,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs76735093	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs76737438	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs104894252	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894255	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs120074177	G>A,C	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074178	G>A,C,T	Likely-pathogenic, uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074179	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074180	C>G,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074181	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074182	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074183	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074184	G>A,C,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074185	C>A,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074186	G>A,C,T	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, stop gained, missense variant
rs120074187	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs120074188	G>A	Likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs120074189	C>T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074190	G>A	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074191	C>T	Not-provided, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs120074192	A>G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074193	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074194	G>A,T	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074195	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs120074196	G>A,C	Not-provided, pathogenic	Coding sequence variant, missense variant
rs138362632	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs138551008	C>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139042529	C>A,G,T	Likely-benign, benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs140452381	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs145229963	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs149089817	G>A	Pathogenic	Missense variant, coding sequence variant
rs151344631	G>A	Pathogenic	Missense variant, coding sequence variant
rs181106858	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193922365	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472677	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472678	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472681	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199472685	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472687	G>A	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472696	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472697	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472698	G>A,C	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472700	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472702	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472705	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472706	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472708	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472709	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472710	T>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472712	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472713	C>A,T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs199472716	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472718	A>C,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472719	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472720	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472722	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199472724	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472726	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472728	A>G	Uncertain-significance, likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199472730	C>G,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472734	G>A	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472737	C>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472745	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472751	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472752	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant
rs199472753	C>G,T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472754	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472755	C>A,G,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472756	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472758	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472759	T>A,C	Uncertain-significance, not-provided, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199472760	C>T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472763	C>A,G,T	Uncertain-significance, likely-pathogenic, not-provided, pathogenic	Coding sequence variant, missense variant
rs199472765	C>A,G	Pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199472767	T>A	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472768	T>C,G	Likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199472771	G>A,T	Not-provided, likely-pathogenic, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs199472775	A>T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472776	C>G,T	Uncertain-significance, likely-pathogenic, not-provided, benign	Coding sequence variant, missense variant
rs199472789	A>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472790	T>G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472793	C>T	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199472794	G>A,C	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472795	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472800	G>A,T	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472801	A>G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472804	C>A,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472805	T>C,G	Not-provided, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs199472806	G>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472807	G>A,C	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472813	G>A,C	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472814	G>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199472815	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199472823	T>C	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473394	G>A	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, missense variant
rs199473397	A>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473398	G>A,C,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473399	T>C	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant
rs199473403	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473406	A>G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473408	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473410	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473411	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs199473441	A>G,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, initiator codon variant
rs199473442	C>G,T	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant, genic upstream transcript variant
rs199473443	C>T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs199473450	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473451	A>G	Uncertain-significance, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473455	C>G,T	Likely-pathogenic, not-provided, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs199473456	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473457	C>A,T	Pathogenic, not-provided, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs199473459	T>C	Uncertain-significance, pathogenic, not-provided	Coding sequence variant, missense variant
rs199473460	T>C,G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473471	G>A,C	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473479	T>G	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473480	C>A,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant, missense variant
rs199473485	T>A,C	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, initiator codon variant
rs199473661	T>C,G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs199473662	C>A,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant, synonymous variant
rs200612600	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267607197	G>A	Pathogenic	Coding sequence variant, missense variant
rs368507376	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs374090960	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs387906290	G>A,C	Pathogenic	Splice acceptor variant
rs397508067	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508068	CTT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508069	TTT>-	Pathogenic, not-provided	Coding sequence variant, inframe deletion
rs397508070	G>A	Likely-pathogenic	Splice donor variant
rs397508072	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508075	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508077	TTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508082	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs397508083	A>-,AA	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508087	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs397508096	C>G	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs397508097	C>T	Pathogenic	Stop gained, coding sequence variant
rs397508107	GCCGCGCCC>-,GCCGCGCCCGCCGCGCCC	Uncertain-significance, pathogenic, not-provided	Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion
rs397508109	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs397508110	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508111	G>A,C	Pathogenic, likely-pathogenic	Intron variant
rs397508112	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508114	G>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs397508115	C>GG	Pathogenic	Coding sequence variant, frameshift variant
rs397508116	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508117	GG>-,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs397508118	GCGCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508120	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397508122	G>A	Pathogenic	Intron variant
rs397508125	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508126	TCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508127	CTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs397508129	GTGAACGAGTCAGGCCGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397508130	G>T	Pathogenic	Splice donor variant
rs397508131	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs397508133	A>C,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs397508134	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515637	CAGTAC>GTTGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs397515877	ATCGCGCCC>-,ATCGCGCCCATCGCGCCC,ATCGCGCCCATCGCGCCCATCGCGCCC	Benign-likely-benign, likely-benign, uncertain-significance, pathogenic	Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion
rs530612385	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs752457145	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs762814879	G>A	Pathogenic	Splice donor variant
rs763462603	TCTGGTCCGCC>-,TCTGGTCCGCCTCTGGTCCGCC	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs764781840	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs765169367	G>-	Pathogenic	Coding sequence variant, stop gained
rs775479779	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs779383393	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs786204778	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728510	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728511	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728512	T>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728513	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728514	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728517	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728519	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728520	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728523	A>C,G	Pathogenic	Splice acceptor variant
rs794728524	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728526	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728527	T>A,C	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs794728528	T>C	Likely-pathogenic	Splice donor variant
rs794728530	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728531	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs794728532	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728533	G>A	Pathogenic	Missense variant, coding sequence variant
rs794728534	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728535	G>T	Pathogenic	Missense variant, coding sequence variant
rs794728536	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728537	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728538	A>G	Pathogenic	Missense variant, coding sequence variant
rs794728544	A>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs794728547	->A	Pathogenic	Stop gained, coding sequence variant
rs794728553	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728555	TTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs794728556	GGCTGCGCTTTGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728557	GTGGTAAGTCGG>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs794728559	->AGC	Uncertain-significance, likely-pathogenic	Inframe insertion, coding sequence variant
rs794728562	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice acceptor variant
rs794728563	GCCCGGCGCCCCAGGTCCCGCGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs794728565	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728566	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728567	G>A	Pathogenic	Stop gained, coding sequence variant
rs794728568	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs794728569	A>G	Pathogenic	Missense variant, coding sequence variant
rs794728571	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728572	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs794728573	A>G	Pathogenic	Splice acceptor variant
rs794728576	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728578	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728579	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794728580	CGGTGAGTCAT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs796052166	T>G	Likely-pathogenic	Splice donor variant
rs876661350	G>A	Pathogenic	Stop gained, coding sequence variant
rs878854347	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878854348	G>C	Pathogenic	Splice acceptor variant
rs878854350	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886037906	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs914460959	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs959449103	G>A	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057519584	T>A	Pathogenic	Missense variant, coding sequence variant
rs1057520623	C>A	Pathogenic	Stop gained, coding sequence variant
rs1060500621	GA>TT	Pathogenic	Missense variant, coding sequence variant
rs1060500623	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1060500626	AGGCTCCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500628	G>T	Pathogenic	Stop gained, coding sequence variant
rs1060500629	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794538	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795333	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796353	GAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1085307965	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691513	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1135401944	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1222477763	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs1325525794	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1435990592	CGGCCGCGCCC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1554892895	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554892900	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554892994	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554893091	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554893092	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554893228	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554893260	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554894445	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554894448	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554894481	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554895166	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554919471	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554920580	->ATGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554920808	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554920833	G>-	Pathogenic	Intron variant
rs1554958030	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554958043	A>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958045	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958047	G>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1554958049	->GGCGGCG	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554958092	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1554958132	->GC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1564820372	G>C	Likely-pathogenic	Splice acceptor variant
rs1564820729	A>C	Likely-pathogenic	Splice acceptor variant
rs1564820786	ACCTGGAGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564821090	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1564825414	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1564886323	AG>-	Likely-pathogenic	Splice acceptor variant
rs1564886349	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565023136	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1589884185	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1589931156	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1589956565	C>-	Pathogenic	Coding sequence variant, stop gained
rs1589957233	G>A	Likely-pathogenic	Splice donor variant
rs1589957697	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1589957719	C>-	Pathogenic	Coding sequence variant, stop gained
rs1589968661	G>A	Pathogenic	Splice donor variant
rs1590081328	G>A	Likely-pathogenic	Splice acceptor variant
rs1590081467	T>C,G	Likely-pathogenic, pathogenic	Splice donor variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT002925	hsa-miR-133a-3p	Luciferase reporter assayWestern blot5'RACEReal time RT-PCR	17443681
MIRT1082222	hsa-miR-2964a-5p	CLIP-seq
MIRT1082223	hsa-miR-505	CLIP-seq
MIRT2020497	hsa-miR-146b-3p	CLIP-seq
MIRT2020498	hsa-miR-4693-3p	CLIP-seq

148

Show/Hide all (148)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001696	Process	Gastric acid secretion	IEA
GO:0001698	Process	Gastrin-induced gastric acid secretion	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003008	Process	System process	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	12324418, 16002409
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	8900283, 9305853, 17289006, 24595108, 24855057
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 19646991
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	12522251, 24184248, 24269949, 25037568
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12324418, 19521339, 19687231, 20533308, 22024150, 23529131, 24595108
GO:0005516	Function	Calmodulin binding	IDA	18165683
GO:0005516	Function	Calmodulin binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	25037568
GO:0005737	Component	Cytoplasm	IDA	25037568
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	21957902
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	21957902
GO:0005769	Component	Early endosome	IEA
GO:0005769	Component	Early endosome	IMP	23529131
GO:0005770	Component	Late endosome	IDA	21957902
GO:0005783	Component	Endoplasmic reticulum	IDA	21228319, 24855057
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IPI	24855057
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	10646604, 21228319, 22024150, 23529131, 24184248, 25037568, 25705178
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007507	Process	Heart development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9020846
GO:0007622	Process	Rhythmic behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	16002409, 17289006, 19646991
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IPI	19521339, 25441029
GO:0008157	Function	Protein phosphatase 1 binding	IDA	11799244
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0010460	Process	Positive regulation of heart rate	IMP	19646991
GO:0012505	Component	Endomembrane system	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IBA
GO:0015271	Function	Outward rectifier potassium channel activity	IDA	9312006, 11101505, 25705178
GO:0015705	Process	Iodide transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	25441029
GO:0016323	Component	Basolateral plasma membrane	IDA	21228319, 21957902
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022600	Process	Digestive system process	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030644	Process	Intracellular chloride ion homeostasis	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	17289006
GO:0032868	Process	Response to insulin	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IDA	11799244
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	11799244
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034702	Component	Monoatomic ion channel complex	IPI	24855057
GO:0034705	Component	Potassium channel complex	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035934	Process	Corticosterone secretion	IEA
GO:0042391	Process	Regulation of membrane potential	IDA	17289006
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	11101505, 20196769, 24855057, 25037568
GO:0045121	Component	Membrane raft	IDA	20533308, 24855057
GO:0045121	Component	Membrane raft	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045178	Component	Basal part of cell	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050892	Process	Intestinal absorption	ISS
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0051049	Process	Regulation of transport	IEA
GO:0055064	Process	Chloride ion homeostasis	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	8528244
GO:0060117	Process	Auditory receptor cell development	IEA
GO:0060306	Process	Regulation of membrane repolarization	IDA	11299204
GO:0060306	Process	Regulation of membrane repolarization	IMP	8900283
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	8528244
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	12522251
GO:0060452	Process	Positive regulation of cardiac muscle contraction	IMP	19646991
GO:0060453	Process	Regulation of gastric acid secretion	IEA
GO:0060453	Process	Regulation of gastric acid secretion	ISS
GO:0061337	Process	Cardiac conduction	IEA
GO:0062094	Process	Stomach development	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	ISS
GO:0070294	Process	Renal sodium ion absorption	IEA
GO:0071320	Process	Cellular response to cAMP	IDA	11299204, 16002409
GO:0071320	Process	Cellular response to cAMP	IMP	18093912
GO:0071466	Process	Cellular response to xenobiotic stimulus	IDA	9108097
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9354802, 11299204, 16002409, 16556866
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	TAS	11799244
GO:0071875	Process	Adrenergic receptor signaling pathway	IEA
GO:0086003	Process	Cardiac muscle cell contraction	NAS	31834838
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	8528244
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	12522251
GO:0086009	Process	Membrane repolarization	IEA
GO:0086011	Process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086011	Process	Membrane repolarization during action potential	IEA
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	8528244
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	NAS	31834838
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	11299204
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	12522251
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IBA
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	12522251, 25786344
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	8528244
GO:0090102	Process	Cochlea development	IEA
GO:0097110	Function	Scaffold protein binding	IPI	11799244, 16002409, 18093912
GO:0097546	Component	Ciliary base	IEA
GO:0097623	Process	Potassium ion export across plasma membrane	IBA
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006, 31834838
GO:0098576	Component	Lumenal side of membrane	IEA
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	12522251, 25786344
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IBA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	8528244
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	9305853
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	8528244
GO:1903817	Process	Negative regulation of voltage-gated potassium channel activity	IDA	9305853
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IEA
GO:1990794	Component	Basolateral part of cell	IEA

MIM	HGNC	e!Ensembl
607542	6294	ENSG00000053918

P51787

Protein name

Potassium voltage-gated channel subfamily KQT member 1 (IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1) (KQT-like 1) (Voltage-gated potassium channel subunit Kv7.1)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon (PubMed:10646604, PubMed:2544

PDB

3BJ4 , 3HFC , 3HFE , 4UMO , 4V0C , 6MIE , 6UZZ , 6V00 , 6V01 , 7VUO , 7VVD , 7VVH , 7XNI , 7XNK , 7XNL , 7XNN , 8SIK , 8SIM , 8SIN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	122 → 359	Ion transport protein	Family
PF03520	KCNQ_channel	482 → 620	KCNQ voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.

Sequence

MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS

Sequence length

676

Interactions

View interactions

113

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the cardiovascular system	Pathogenic	rs1554893092	RCV001814172	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial fibrillation	Pathogenic	rs120074192, rs199472687, rs199472705	RCV000057673 RCV000057674 RCV000057725	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial fibrillation, familial, 3	Likely pathogenic; Pathogenic	rs2133730742, rs120074179, rs120074192, rs120074193, rs794728535, rs2494325585, rs1554958045, rs1435990592, rs1564820372, rs1590081467, rs397508068, rs397508075, rs12720458, rs397508083, rs397508087 View all (28 more)	RCV003458177 RCV005862693 RCV000003293 RCV000762834 RCV005235658 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann syndrome	Pathogenic; Likely pathogenic	rs1800171, rs120074193, rs1435990592, rs397508068, rs397508075, rs12720458, rs397508083, rs397508097, rs199472795, rs199472800, rs199472804, rs199472807, rs199472815, rs397508103, rs139042529 View all (11 more)	RCV002247243 RCV000762834 RCV002490900 RCV002496698 RCV002496699 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs2133992401, rs199473410, rs2133981154, rs2133760795, rs1221462654, rs778786253, rs120074182, rs120074178, rs12720459, rs120074183, rs120074185, rs17215500, rs120074190, rs120074193, rs2493700635 View all (72 more)	RCV001842086 RCV003591880 RCV001842167 RCV003591903 RCV003591905 View all (88 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2133992401, rs2133758591, rs199473410, rs2133728692, rs2133560315, rs2133733071, rs2133754863, rs2133855926, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074184 View all (136 more)	RCV002405214 RCV002414255 RCV003298922 RCV002359276 RCV005654904 View all (164 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital long QT syndrome	Likely pathogenic; Pathogenic	rs2133733071, rs120074177, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs1800171 View all (115 more)	RCV004017886 RCV000057693 RCV000057797 RCV000057808 RCV000057706 View all (150 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs397508083	RCV001814030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Pathogenic	rs2133650175	RCV005922851	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs878854347	RCV005621908	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jervell and Lange-Nielsen syndrome	Pathogenic; Likely pathogenic	rs120074179, rs786204778, rs794728565, rs1846719993, rs1060500629, rs397508083, rs397508111, rs397508112, rs397508118, rs199472702, rs120074196	RCV005862693 RCV000169662 RCV000609648 RCV004018241 RCV004689741 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell and Lange-Nielsen syndrome 1	Likely pathogenic; Pathogenic	rs2133730742, rs120074186, rs17215500, rs120074189, rs120074190, rs120074193, rs1554958045, rs1554919471, rs1554893092, rs1435990592, rs1554903804, rs1554920833, rs1564820372, rs1590081467, rs397508068 View all (38 more)	RCV003458177 RCV000003275 RCV001847566 RCV000003286 RCV000003289 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNQ1-related disorder	Likely pathogenic; Pathogenic	rs17215500, rs120074189, rs120074194, rs397508109, rs1435990592, rs151344631, rs397508075, rs12720458, rs397508097, rs199472795, rs397508103, rs397508112, rs199473394, rs397508117, rs397508118 View all (9 more)	RCV000779058 RCV004732528 RCV004540987 RCV004537528 RCV004537868 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNQ1-related epilepsy	Pathogenic	rs397508090	RCV001838979	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Pathogenic; Likely pathogenic	rs199473479, rs1848577150, rs120074189, rs199472750, rs1564820836, rs771458482, rs775537394, rs2133559667, rs2133560305, rs2133560394, rs2133758295, rs1848631690, rs2133990821, rs2133992401, rs199473410 View all (258 more)	RCV001317809 RCV001341790 RCV001340233 RCV001365655 RCV001378656 View all (331 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome 1	Likely pathogenic; Pathogenic	rs2133758591, rs2133728692, rs2133730742, rs397508130, rs1205552952, rs2493667554, rs2493696044, rs120074177, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183 View all (145 more)	RCV001729942 RCV001839468 RCV003458177 RCV003319486 RCV002287218 View all (178 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome 1, recessive	Likely pathogenic; Pathogenic	rs17215500, rs120074188	RCV000003279 RCV000003280	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 1/2, digenic	Pathogenic	rs12720459, rs120074196, rs397508116	RCV000003268 RCV000003300 RCV000003299	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 2	Pathogenic	rs1800171	RCV000498423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs17215500, rs199472719	RCV005862694 RCV005859485	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prolonged QT interval	Likely pathogenic; Pathogenic	rs1564821090	RCV000678458	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs397508112	RCV000217623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent spontaneous abortion	Pathogenic	rs199472695	RCV001530975	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT syndrome type 1	Likely pathogenic; Pathogenic	rs199473457	RCV006436418	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT syndrome type 2	Likely pathogenic; Pathogenic	rs2133730742, rs120074179, rs120074193, rs2494325585, rs1554958045, rs1057519584, rs1435990592, rs1564820372, rs1590081467, rs397508068, rs397508075, rs12720458, rs397508083, rs397508087, rs397508090 View all (25 more)	RCV003458177 RCV005862693 RCV000762834 RCV004555152 RCV005049544 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolff-Parkinson-White pattern	Likely pathogenic; Pathogenic	rs199472712	RCV000656159	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (87)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acquired susceptibility to long QT syndrome 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 13	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 7	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 9	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant KCNQ1-related disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR ABNORMALITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SHORT QT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC POLYNEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrial fibrillation	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERURICEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JERVELL-LANGE NIELSEN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymorphic ventricular tachycardia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SHORT QT SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de pointes	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, POLYMORPHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (281)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24366043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	16818210, 28315637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	18452873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25127743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	12442276, 12702160, 17905416, 17999538, 18093912, 18192214, 18308161, 18365896, 18426444, 19822806, 21952006, 22508963, 24769622, 27707468, 28814790 View all (11 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	18426444	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	25616976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	29705154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	25967671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32443288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	10844385, 12522251, 14521653, 15368194, 16039273, 16054468, 16109388, 17016049, 17276182, 17997361, 18313602, 18452873, 18590565, 18599533, 19632626 View all (21 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial Fibrillation	LHGDN	12522251, 17997361		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial fibrillation	Pubtator	17276182, 17999538, 18452873, 19632626, 19646991, 20850564, 22471742, 22508963, 22818067, 23350853, 23710137, 24460807, 26922794, 29488358, 32164657 View all (4 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	12522251, 22471742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation, Familial, 3	Atrial Fibrillation	UNIPROT_DG	12522251		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Fibrillation, Familial, 3	Atrial Fibrillation	GENOMICS_ENGLAND_DG	29697308, 8528244		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Fibrillation, Familial, 3	Atrial Fibrillation	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Fibrillation, Familial, 3	Atrial Fibrillation	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrioventricular Block	Atrioventricular block	BEFREE	17467630, 18373596, 20487114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	34142889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	32048431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10220444, 10369866, 10393948, 10907850, 10958646, 11106355, 11120752, 12801110, 22205991, 23061425, 24996904, 30635621, 9020845, 9311734		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Borderline Personality Disorder	Borderline personality disorder	Pubtator	24367640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	25974115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	27707468, 36197721	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	27707468, 30389366, 31751991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34111567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34008749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24366043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22610075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24687331, 25616976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	25616976, 29071820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	24183960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12849668, 25087618, 28253292, 30866607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	16132053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21956039, 28863213, 30500500, 31696929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29749509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25429063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25429063, 26238466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	27856205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	29520783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of toe	Clinodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	26718405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27855440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23975432, 27855440, 28373572, 30014247, 31636470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26868975, 27855440, 31909901, 35395779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	17467630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	21931561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1K	Congenital disorder of glycosylation	Pubtator	29855564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	10090529, 10688323, 10737999, 11021476, 11104743, 11334835, 11686910, 11861047, 12598076, 12820704, 14769199, 15023549, 15234419, 15242738, 15549512 View all (42 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital long QT syndrome	Congenital Long QT Syndrome	CLINVAR_DG	10560595, 10704188, 10973849, 11087258, 11140949, 11530100, 12051962, 12702160, 14678125, 15051636, 15466642, 15781747, 15840476, 16556865, 16818214 View all (31 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	20890437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	CLINVAR_DG	29372044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17384445, 29358197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	19575309		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	20701788, 33752320	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	27091178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10970817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12083723, 17999538, 23392653, 24769622, 32508908, 36674868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30458022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30635621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18711367, 20581827, 21355884, 22479571, 23139357, 23630301, 23808542, 26825526, 27323013, 29207083, 30157802, 30641161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	33752320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	23364967, 25973943, 32390949, 34928995, 37107681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32390949	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18711367, 20581827, 21355884, 22479571, 23139357, 23630301, 23808542, 26825526, 27323013, 28805561, 29207083, 30157802, 30641161		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	19448982, 19516902, 22479571, 23139357, 23630301, 26540651, 26825526, 27281273, 27323013, 30157802, 33479058, 33484326, 34750480, 35163587	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19252135, 19366866, 19401414, 19448982, 19516902, 19584308, 20056949, 20174558, 20509872, 20581827, 20701788, 21103332, 21261977, 21709633, 21799836 View all (52 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29139617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18711366, 18711367, 18991055, 19252135, 19308350, 19366866, 19448982, 19516902, 19556355, 19575309, 19584308, 19850681, 19892838, 20056949, 20174558 View all (68 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	18711366, 18711367, 19401414, 20174558, 20581827, 20818381, 21647700, 21799836, 21874001, 22158537, 22325160, 22885922, 22961080, 23300278, 23945395, 24101674, 24390345, 24509480 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18711366, 18711367, 26551672		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	18711366, 18711367, 19401414, 20174558, 20581827, 21799836, 22885922, 22961080, 23945395, 24101674, 24390345, 24509480, 25102180, 26818947, 28254843 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20056949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20056949, 22696034, 26970180		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30784065		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	26718405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	34750480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31579970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18774102, 20368164, 25645639, 30218808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	24769622, 25645639, 29261713, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial short QT syndrome	Short QT Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29139617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	25967671		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	25967671, 29879923	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	27194473, 29270100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	14510661, 20146813, 23392653, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	21118729, 29921843, 9852064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23392653, 25616976, 29439887, 29532034, 36674868, 39388802, 9753711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29358197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary bundle branch system defect	Pubtator	21138517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28400316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24357532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	32164657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	17853647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17276182, 26678516, 33752320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17276182, 21767287, 26678516, 28059450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24183960, 25825456		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	24183960		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24183960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	GWASCAT_DG	29124443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	BEFREE	24357532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	32164657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	20978783, 22549510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	19252135, 27857189, 30641161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	27856205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	23975432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	23975432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25429063, 30816480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	29097701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jervell and Lange-Nielsen syndrome	Jervell-Lange Nielsen Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell And Lange-Nielsen Syndrome 1	Jervell-Lange Nielsen Syndrome	UNIPROT_DG	10090886, 10728423, 18400097, 18441444, 25705178, 9781056		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell And Lange-Nielsen Syndrome 1	Jervell-Lange Nielsen Syndrome	CLINVAR_DG	28595573, 29372044		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell And Lange-Nielsen Syndrome 1	Jervell-Lange Nielsen Syndrome	GENOMICS_ENGLAND_DG	29697308, 8528244, 9950666		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell And Lange-Nielsen Syndrome 1	Jervell-Lange Nielsen Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	BEFREE	10077519, 10654932, 10737999, 10868746, 10898405, 11140949, 11216980, 12051962, 14510661, 15891643, 15950200, 16461811, 16911578, 16987820, 19027783 View all (21 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	CLINVAR_DG	10482963, 10560595, 10704188, 11530100, 12051962, 14510661, 15466642, 15840476, 19716085, 22309168, 22539601, 23098067, 23631430, 24552659, 24666684, 24912595, 26546361 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	CLINGEN_DG	11223304, 11226272, 24206879, 25187895, 26084842, 27041150, 27868350, 29037160, 9020846		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	LHGDN	14510661, 16987820, 17646758, 18400097, 18441444		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	ORPHANET_DG	24093767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jervell-Lange Nielsen Syndrome	Jervell-Lange Nielsen Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	20056949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20056949, 22403629, 33752320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29124443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	28249770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31390869, 31837329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	10704188, 23281115, 9020846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30144972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26678516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	29139617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	10024302, 10090529, 10220146, 10376919, 10409658, 10414310, 10483966, 10560595, 10654932, 10704188, 10807545, 10874277, 10973849, 11021476, 11087258 View all (236 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG	10024302, 10086971, 10376919, 10409658, 10482963, 10483966, 10560595, 10704188, 10728423, 10973849, 11021476, 11087258, 11140949, 11162126, 11216980 View all (137 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	10483966, 11216980, 11686910, 12442276, 12598076, 12702160, 12736279, 12849668, 14510661, 14998624, 15234419, 16487223, 16542208, 16723781, 17192539 View all (129 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	CTD_human_DG	10868744, 14510655, 15028050, 17467628, 18329740, 20513597, 22910039		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	LHGDN	12080180, 12442276, 12820704, 14731347, 15028050, 15242738, 15696484, 16246960, 16880338, 17292394, 17853647, 18174212, 18308161, 18580685, 18774102		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	17222736	Stimulate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	UNIPROT_DG	10024302, 10220144, 10220146, 10367071, 10409658, 10482963, 10728423, 10973849, 11799244, 12442276, 15840476, 16414944, 16922724, 18165683, 18400097 View all (26 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	BEFREE	10482963, 10737999, 10868746, 11216980, 12004990, 12388934, 15004216, 15028050, 15176421, 15511625, 15731462, 15935335, 15950200, 16246960, 16386673 View all (40 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	CLINVAR_DG	10728423, 10973849, 11216980, 12051962, 12205790, 14678125, 14998624, 15176425, 15840476, 16922724, 19716085, 19808498, 19843919, 20850564, 22613981, 22949429, 29033053 View all (2 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	CTD_human_DG	15004216		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome 1	Long QT Syndrome	GENOMICS_ENGLAND_DG	29097701, 29697308, 8528244		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LONG QT SYNDROME 1/2, DIGENIC (disorder)	LONG QT SYNDROME DIGENIC	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 2	Long QT Syndrome	BEFREE	11897209, 12069453, 12808265, 12849668, 14510655, 16386673, 18273958, 18981593, 20226272, 20233272, 20455992, 20837891, 21164565, 23879280, 26063740 View all (9 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 2	Long QT Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LONG QT SYNDROME 3	Long QT Syndrome	BEFREE	12004990, 24200848, 28942950, 31006312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 5	Long qt syndrome	Pubtator	19340287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT syndrome type 3	Long qt syndrome	Pubtator	23571586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	12612194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35216393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24366043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25516658, 31636470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31636470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10197590, 10220444, 10369866, 11120752, 23975432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27855440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28253292, 37460236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26599349, 30157802	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26599349, 30157802, 30500500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	17010804		★★★★★ ★☆☆☆☆ 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
Myocardial Infarction	Myocardial Infarction	BEFREE	18651418, 31625414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	18651418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	20636320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	21459285		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	21459285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21118729, 23975432, 24366043, 27855440, 28373572, 30014247, 30144972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10197590, 25429063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22581653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	25369983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24366043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22790062, 23825961, 25429063, 25651499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23825961, 25429063, 25651499	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	26599349	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	26599349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31454677		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31909901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31909901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25516658, 31636470		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25516658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	26669661, 29532034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	GENOMICS_ENGLAND_DG	29697308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	23853484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23193118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	26970180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	10369866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29520783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Romano-Ward Syndrome	Romano-Ward Syndrome	BEFREE	10482963, 12388934, 15511625, 15950200, 16911578, 16981927, 19027783, 27041150, 28595573		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	CLINVAR_DG	10482963, 10560595, 10704188, 10728423, 10973849, 14510661, 15466642, 15840476, 19716085, 19934648, 21350584, 22309168, 22429796, 22539601, 23098067 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	LHGDN	15511625, 18400097		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	27855440	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	20101688, 27798108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28188958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20890437, 25645639, 29672598, 33484326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10898405, 14510661, 23392653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	15761194, 16109388, 16226079, 17905416, 20850564, 26168993, 28814790, 29874177, 30337886		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Short Qt Syndrome	Short QT Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Short QT Syndrome 1	Short QT Syndrome	ORPHANET_DG	15159330, 26346102		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 1	Short qt syndrome	Pubtator	17905416, 20850564, 28814790, 30866607, 34557911	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	UNIPROT_DG	15159330		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	BEFREE	23677719, 25974115		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	GENOMICS_ENGLAND_DG	29697308, 8528244		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 3	Short QT Syndrome	BEFREE	23677719		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	14998624, 27539165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	11334835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	27543307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	29097701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31636470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33100093, 33682985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25429063, 29488358, 35544069	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	25616976, 35357185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	23853484, 25616976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thromboembolic stroke	Thromboembolic stroke	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	28315637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	10688323, 14769199, 15892662, 17088455, 18808722, 21459285, 23291057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de Pointes	LHGDN	17161064		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de pointes	Pubtator	18808722, 21139297, 30568157	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de Pointes	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11216980, 11802537, 29037160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	11692163, 15731462, 16556865, 17023080, 18365896, 23095322, 25344363, 30108508, 30956674, 31751991, 9476573		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	16723781, 23350853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	14769199		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24373870, 26118593, 29488358, 30866607	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Outflow Obstruction	Ventricular outflow obstruction	Pubtator	25692982	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	19261510, 26228265, 29925740, 30389366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	12877697, 14769199, 29769222		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	25471708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	11056398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

KCNQ1 (potassium voltage-gated channel subfamily Q member 1)