RYR2 (ryanodine receptor 2)

Gene

• Entrez ID: 6262
• Gene name: Ryanodine receptor 2
• Gene symbol: RYR2
• Synonyms (NCBI Gene): ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP
• Chromosome: 1
• Chromosome location: 1q43
• Summary: This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41267517	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs112680790	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs117180147	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs121918597	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918598	G>A,C	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs121918599	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918600	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918601	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918602	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918603	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918604	G>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918605	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121918606	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs144256966	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs149514924	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs185237690	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs186181155	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs186906598	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs187977513	A>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs188671846	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs190140598	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs193922622	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs193922623	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922625	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs193922626	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200092869	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs200105499	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200121281	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200236750	C>T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200318013	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200450676	T>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200525962	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200642525	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201079716	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201131315	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201371633	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201500134	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs201880756	C>A,T	Benign-likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs202015519	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs202176504	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs367992907	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs369512347	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs370332882	T>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs370996795	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs371147744	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs372601642	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs373024059	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs373606009	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs373721253	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs375213838	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377465289	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs397516503	A>-	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs397516508	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516510	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs397516524	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs397516539	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398123540	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs550691734	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs551099887	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs559154874	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs564806219	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs569571855	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs587782975	A>G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs727503396	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs727504630	TC>AT	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs727504718	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs730880187	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880191	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730880196	A>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880199	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880200	C>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs730880201	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748937501	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs751428303	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs753175584	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs753850982	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs755065507	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs755520825	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant
rs758500988	T>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs758785338	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs762521873	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs763374929	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs765238394	A>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs768538183	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs771994461	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs772984053	G>A	Uncertain-significance, pathogenic	Splice donor variant
rs774625105	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs780266883	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786205454	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs786205455	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794727676	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs794728704	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728705	T>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728707	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728708	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728710	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728711	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728713	G>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728715	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728718	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728721	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs794728740	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728743	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728744	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728745	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728746	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728748	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728750	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728751	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728753	G>A,C	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728754	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728755	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728756	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728757	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728775	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728777	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728778	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728779	A>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728780	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728782	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728785	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728786	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728787	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728788	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728791	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728799	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728801	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728802	A>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728803	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728804	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728806	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728807	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728808	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728809	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728810	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728811	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728812	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728813	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728814	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794728826	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728828	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728831	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728832	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs794728834	CGT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs794728837	GC>AG	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs863223354	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863223355	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876661386	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs876661387	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs886037907	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886037908	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886038888	G>A	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs886039458	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs886042568	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs886046270	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, non coding transcript variant, coding sequence variant
rs1008224442	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs1057517873	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500137	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060500142	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793256	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064794753	T>A,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064796516	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085307997	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1085308008	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1226397753	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1342435908	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1373714510	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1401116572	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1415931588	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1553263732	GAG>AAA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263875	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553263907	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553283030	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1553322494	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553335836	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339084	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553339086	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553343100	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553426678	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553454821	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1553531703	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558103974	G>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1558393802	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405816	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558405887	GAG>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1558481148	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1558698334	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1572627115	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573300872	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1573911397	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1573997412	CTT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017941	hsa-miR-335-5p	Microarray	18185580
MIRT051746	hsa-let-7c-5p	CLASH	23622248
MIRT050849	hsa-miR-17-5p	CLASH	23622248
MIRT050316	hsa-miR-25-3p	CLASH	23622248
MIRT1323778	hsa-miR-1257	CLIP-seq
MIRT1323779	hsa-miR-1303	CLIP-seq
MIRT1323780	hsa-miR-1908	CLIP-seq
MIRT1323781	hsa-miR-193a-5p	CLIP-seq
MIRT1323782	hsa-miR-3128	CLIP-seq
MIRT1323783	hsa-miR-3180	CLIP-seq
MIRT1323784	hsa-miR-3180-3p	CLIP-seq
MIRT1323785	hsa-miR-3196	CLIP-seq
MIRT1323786	hsa-miR-4488	CLIP-seq
MIRT1323787	hsa-miR-4697-5p	CLIP-seq
MIRT1323788	hsa-miR-4719	CLIP-seq
MIRT1323789	hsa-miR-509-3p	CLIP-seq
MIRT1323790	hsa-miR-513b	CLIP-seq
MIRT1323791	hsa-miR-659	CLIP-seq
MIRT1323792	hsa-miR-663	CLIP-seq
MIRT1323793	hsa-miR-877	CLIP-seq
MIRT2096128	hsa-miR-450b-5p	CLIP-seq
MIRT2096129	hsa-miR-4698	CLIP-seq
MIRT1323781	hsa-miR-193a-5p	CLIP-seq
MIRT2320411	hsa-miR-4682	CLIP-seq
MIRT2320412	hsa-miR-4790-3p	CLIP-seq
MIRT1323789	hsa-miR-509-3p	CLIP-seq
MIRT2440018	hsa-miR-129-5p	CLIP-seq
MIRT2440019	hsa-miR-3124-3p	CLIP-seq
MIRT2440020	hsa-miR-3180-5p	CLIP-seq
MIRT2440021	hsa-miR-520a-5p	CLIP-seq
MIRT2440022	hsa-miR-525-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	ISS
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IMP	11159936, 12919952, 15197150
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IBA
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IDA	12443530, 17921453, 19220289, 27733687, 33536282
GO:0005219	Function	Ryanodine-sensitive calcium-release channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	IDA	10830164
GO:0005515	Function	Protein binding	IPI	10830164, 11237759, 17921453, 20195357, 23233753
GO:0005516	Function	Calmodulin binding	IDA	22067155, 26164367, 27516456
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IMP	19220289
GO:0005516	Function	Calmodulin binding	IPI	23040497
GO:0005516	Function	Calmodulin binding	ISS
GO:0005790	Component	Smooth endoplasmic reticulum	IBA
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	17921453
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006941	Process	Striated muscle contraction	IBA
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0010460	Process	Positive regulation of heart rate	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA	19220289
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	17875969
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	IMP	17875969
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	27733687, 33536282
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP	12919952
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0014850	Process	Response to muscle activity	IMP	17875969
GO:0015278	Function	Intracellularly gated calcium channel activity	IDA	17921453
GO:0015278	Function	Intracellularly gated calcium channel activity	IEA
GO:0015278	Function	Intracellularly gated calcium channel activity	ISS
GO:0016020	Component	Membrane	IDA	12443530
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	10830164, 12919952
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019722	Process	Calcium-mediated signaling	IDA	17921453
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019722	Process	Calcium-mediated signaling	ISS
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	16213210
GO:0019901	Function	Protein kinase binding	IEA
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	19131648
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0031000	Process	Response to caffeine	IDA	17921453
GO:0031000	Process	Response to caffeine	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0033017	Component	Sarcoplasmic reticulum membrane	IBA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	19095005
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IDA	10830164
GO:0034237	Function	Protein kinase A regulatory subunit binding	IDA	10830164
GO:0034704	Component	Calcium channel complex	IBA
GO:0034704	Component	Calcium channel complex	IDA	10830164, 16213210
GO:0034704	Component	Calcium channel complex	IEA
GO:0035994	Process	Response to muscle stretch	IMP	15105296
GO:0042383	Component	Sarcolemma	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10830164
GO:0043924	Function	Suramin binding	IMP	19220289
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0048763	Function	Calcium-induced calcium release activity	IDA	17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	12443530, 17921453
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051284	Process	Positive regulation of sequestering of calcium ion	IDA	12443530, 12919952
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051775	Process	Response to redox state	IDA	19226252
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	11159936
GO:0060048	Process	Cardiac muscle contraction	IMP	10830164
GO:0060402	Process	Calcium ion transport into cytosol	IDA	17921453
GO:0070296	Process	Sarcoplasmic reticulum calcium ion transport	TAS	19095005
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071313	Process	Cellular response to caffeine	IDA	12919952
GO:0071313	Process	Cellular response to caffeine	IEA
GO:0071313	Process	Cellular response to caffeine	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:0071872	Process	Cellular response to epinephrine stimulus	ISS
GO:0071872	Process	Cellular response to epinephrine stimulus	TAS	23507255
GO:0072599	Process	Establishment of protein localization to endoplasmic reticulum	IDA	12443530
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	ISS
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	IEA
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	ISS
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IC
GO:0097050	Process	Type B pancreatic cell apoptotic process	IEA
GO:0097050	Process	Type B pancreatic cell apoptotic process	IMP	15044459
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
GO:0098735	Process	Positive regulation of the force of heart contraction	IMP	15105296
GO:0098904	Process	Regulation of AV node cell action potential	IMP	17875969
GO:0098907	Process	Regulation of SA node cell action potential	IMP	17875969
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	17875969
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	17875969

Other IDs

• MIM: 180902
• HGNC: 10484
• e!Ensembl: ENSG00000198626

Protein

• UniProt ID: Q92736
• Protein name: Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)
• Protein function: Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardi
• PDB: 4JKQ, 6Y4O, 6Y4P, 7KL5, 7U9Q, 7U9R, 7U9T, 7U9X, 7U9Z, 7UA1, 7UA3, 7UA4, 7UA5, 7UA9, 8UQ2, 8UQ3, 8UQ4, 8UQ5, 8UXC, 8UXE, 8UXF, 8UXG, 8UXH, 8UXI, 8UXL, 8UXM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08709	Ins145_P3_rec	9 → 223	Inositol 1,4,5-trisphosphate/ryanodine receptor	Domain
  PF02815	MIR	226 → 406	MIR domain	Domain
  PF01365	RYDR_ITPR	453 → 648	RIH domain	Family
  PF00622	SPRY	672 → 807	SPRY domain	Family
  PF02026	RyR	862 → 952	RyR domain	Family
  PF02026	RyR	976 → 1066	RyR domain	Family
  PF00622	SPRY	1100 → 1220	SPRY domain	Family
  PF00622	SPRY	1425 → 1560	SPRY domain	Family
  PF01365	RYDR_ITPR	2123 → 2336	RIH domain	Family
  PF02026	RyR	2701 → 2791	RyR domain	Family
  PF02026	RyR	2821 → 2905	RyR domain	Family
  PF08454	RIH_assoc	3830 → 3948	RyR and IP3R Homology associated	Family
  PF06459	RR_TM4-6	4333 → 4599	Ryanodine Receptor TM 4-6	Family
  PF00520	Ion_trans	4707 → 4878	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart muscle (at protein level). Heart muscle, brain (cerebellum and hippocampus) and placenta. {ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:9607712}.
• Sequence:

  MADGGEGEDEIQFLRTDDEVVLQCTATIHKEQQKLCLAAEGFGNRLCFLESTSNSKNVPP
  DLSICTFVLEQSLSVRALQEMLANTVEKSEGQVDVEKWKFMMKTAQGGGHRTLLYGHAIL
  LRHSYSGMYLCCLSTSRSSTDKLAFDVGLQEDTTGEACWWTIHPASKQRSEGEKVRVGDD
  LILVSVSSERYLHLSYGNGSLHVDAAFQQTLWSVAPISSGSEAAQGYLIGGDVLRLLHGH
  MDECLTVPSGEHGEEQRRTVHYEGGAVSVHARSLWRLETLRVAWSGSHIRWGQPFRLRHV
  TTGKYLSLMEDKNLLLMDKEKADVKSTAFTFRSSKEKLDVGVRKEVDGMGTSEIKYGDSV
  CYIQHVDTGLWLTYQSVDVKSVRMGSIQRKAIMHHEGHMDDGISLSRSQHEESRTARVIR
  STVFLFNRFIRGLDALSKKAKASTVDLPIESVSLSLQDLIGYFHPPDEHLEHEDKQNRLR
  ALKNRQNLFQEEGMINLVLECIDRLHVYSSAAHFADVAGREAGESWKSILNSLYELLAAL
  IRGNRKNCAQFSGSLDWLISRLERLEASSGILEVLHCVLVESPEALNIIKEGHIKSIISL
  LDKHGRNHKVLDVLCSLCVCHGVAVRSNQHLICDNLLPGRDLLLQTRLVNHVSSMRPNIF
  LGVSEGSAQYKKWYYELMVDHTEPFVTAEATHLRVGWASTEGYSPYPGGGEEWGGNGVGD
  DLFSYGFDGLHLWSGCIARTVSSPNQHLLRTDDVISCCLDLSAPSISFRINGQPVQGMFE
  NFNIDGLFFPVVSFSAGIKVRFLLGGRHGEFKFLPPPGYAPCYEAVLPKEKLKVEHSREY
  KQERTYTRDLLGPTVSLTQAAFTPIPVDTSQIVLPPHLERIREKLAENIHELWVMNKIEL
  GWQYGPVRDDNKRQHPCLVEFSKLPEQERNYNLQMSLETLKTLLALGCHVGISDEHAEDK
  VKKMKLPKNYQLTSGYKPAPMDLSFIKLTPSQEAMVDKLAENAHNVWARDRIRQGWTYGI
  QQDVKNRRNPRLVPYTLLDDRTKKSNKDSLREAVRTLLGYGYNLEAPDQDHAARAEVCSG
  TGERFRIFRAEKTYAVKAGRWYFEFETVTAGDMRVGWSRPGCQPDQELGSDERAFAFDGF
  KAQRWHQGNEHYGRSWQAGDVVGCMVDMNEHTMMFTLNGEILLDDSGSELAFKDFDVGDG
  FIPVCSLGVAQVGRMNFGKDVSTLKYFTICGLQEGYEPFAVNTNRDITMWLSKRLPQFLQ
  VPSNHEHIEVTRIDGTIDSSPCLKVTQKSFGSQNSNTDIMFYRLSMPIECAEVFSKTVAG
  GLPGAGLFGPKNDLEDYDADSDFEVLMKTAHGHLVPDRVDKDKEATKPEFNNHKDYAQEK
  PSRLKQRFLLRRTKPDYSTSHSARLTEDVLADDRDDYDFLMQTSTYYYSVRIFPGQEPAN
  VWVGWITSDFHQYDTGFDLDRVRTVTVTLGDEKGKVHESIKRSNCYMVCAGESMSPGQGR
  NNNGLEIGCVVDAASGLLTFIANGKELSTYYQVEPSTKLFPAVFAQATSPNVFQFELGRI
  KNVMPLSAGLFKSEHKNPVPQCPPRLHVQFLSHVLWSRMPNQFLKVDVSRISERQGWLVQ
  CLDPLQFMSLHIPEENRSVDILELTEQEELLKFHYHTLRLYSAVCALGNHRVAHALCSHV
  DEPQLLYAIENKYMPGLLRAGYYDLLIDIHLSSYATARLMMNNEYIVPMTEETKSITLFP
  DENKKHGLPGIGLSTSLRPRMQFSSPSFVSISNECYQYSPEFPLDILKSKTIQMLTEAVK
  EGSLHARDPVGGTTEFLFVPLIKLFYTLLIMGIFHNEDLKHILQLIEPSVFKEAATPEEE
  SDTLEKELSVDDAKLQGAGEEEAKGGKRPKEGLLQMKLPEPVKLQMCLLLQYLCDCQVRH
  RIEAIVAFSDDFVAKLQDNQRFRYNEVMQALNMSAALTARKTKEFRSPPQEQINMLLNFK
  DDKSECPCPEEIRDQLLDFHEDLMTHCGIELDEDGSLDGNSDLTIRGRLLSLVEKVTYLK
  KKQAEKPVESDSKKSSTLQQLISETMVRWAQESVIEDPELVRAMFVLLHRQYDGIGGLVR
  ALPKTYTINGVSVEDTINLLASLGQIRSLLSVRMGKEEEKLMIRGLGDIMNNKVFYQHPN
  LMRALGMHETVMEVMVNVLGGGESKEITFPKMVANCCRFLCYFCRISRQNQKAMFDHLSY
  LLENSSVGLASPAMRGSTPLDVAAASVMDNNELALALREPDLEKVVRYLAGCGLQSCQML
  VSKGYPDIGWNPVEGERYLDFLRFAVFCNGESVEENANVVVRLLIRRPECFGPALRGEGG
  NGLLAAMEEAIKIAEDPSRDGPSPNSGSSKTLDTEEEEDDTIHMGNAIMTFYSALIDLLG
  RCAPEMHLIHAGKGEAIRIRSILRSLIPLGDLVGVISIAFQMPTIAKDGNVVEPDMSAGF
  CPDHKAAMVLFLDRVYGIEVQDFLLHLLEVGFLPDLRAAASLDTAALSATDMALALNRYL
  CTAVLPLLTRCAPLFAGTEHHASLIDSLLHTVYRLSKGCSLTKAQRDSIEVCLLSICGQL
  RPSMMQHLLRRLVFDVPLLNEHAKMPLKLLTNHYERCWKYYCLPGGWGNFGAASEEELHL
  SRKLFWGIFDALSQKKYEQELFKLALPCLSAVAGALPPDYMESNYVSMMEKQSSMDSEGN
  FNPQPVDTSNITIPEKLEYFINKYAEHSHDKWSMDKLANGWIYGEIYSDSSKVQPLMKPY
  KLLSEKEKEIYRWPIKESLKTMLAWGWRIERTREGDSMALYNRTRRISQTSQVSVDAAHG
  YSPRAIDMSNVTLSRDLHAMAEMMAENYHNIWAKKKKMELESKGGGNHPLLVPYDTLTAK
  EKAKDREKAQDILKFLQINGYAVSRGFKDLELDTPSIEKRFAYSFLQQLIRYVDEAHQYI
  LEFDGGSRGKGEHFPYEQEIKFFAKVVLPLIDQYFKNHRLYFLSAASRPLCSGGHASNKE
  KEMVTSLFCKLGVLVRHRISLFGNDATSIVNCLHILGQTLDARTVMKTGLESVKSALRAF
  LDNAAEDLEKTMENLKQGQFTHTRNQPKGVTQIINYTTVALLPMLSSLFEHIGQHQFGED
  LILEDVQVSCYRILTSLYALGTSKSIYVERQRSALGECLAAFAGAFPVAFLETHLDKHNI
  YSIYNTKSSRERAALSLPTNVEDVCPNIPSLEKLMEEIVELAESGIRYTQMPHVMEVILP
  MLCSYMSRWWEHGPENNPERAEMCCTALNSEHMNTLLGNILKIIYNNLGIDEGAWMKRLA
  VFSQPIINKVKPQLLKTHFLPLMEKLKKKAATVVSEEDHLKAEARGDMSEAELLILDEFT
  TLARDLYAFYPLLIRFVDYNRAKWLKEPNPEAEELFRMVAEVFIYWSKSHNFKREEQNFV
  VQNEINNMSFLITDTKSKMSKAAVSDQERKKMKRKGDRYSMQTSLIVAALKRLLPIGLNI
  CAPGDQELIALAKNRFSLKDTEDEVRDIIRSNIHLQGKLEDPAIRWQMALYKDLPNRTDD
  TSDPEKTVERVLDIANVLFHLEQKSKRVGRRHYCLVEHPQRSKKAVWHKLLSKQRKRAVV
  ACFRMAPLYNLPRHRAVNLFLQGYEKSWIETEEHYFEDKLIEDLAKPGAEPPEEDEGTKR
  VDPLHQLILLFSRTALTEKCKLEEDFLYMAYADIMAKSCHDEEDDDGEEEVKSFEEKEME
  KQKLLYQQARLHDRGAAEMVLQTISASKGETGPMVAATLKLGIAILNGGNSTVQQKMLDY
  LKEKKDVGFFQSLAGLMQSCSVLDLNAFERQNKAEGLGMVTEEGSGEKVLQDDEFTCDLF
  RFLQLLCEGHNSDFQNYLRTQTGNNTTVNIIISTVDYLLRVQESISDFYWYYSGKDVIDE
  QGQRNFSKAIQVAKQVFNTLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMQMKLSQ
  DSSQIELLKELMDLQKDMVVMLLSMLEGNVVNGTIGKQMVDMLVESSNNVEMILKFFDMF
  LKLKDLTSSDTFKEYDPDGKGVISKRDFHKAMESHKHYTQSETEFLLSCAETDENETLDY
  EEFVKRFHEPAKDIGFNVAVLLTNLSEHMPNDTRLQTFLELAESVLNYFQPFLGRIEIMG
  SAKRIERVYFEISESSRTQWEKPQVKESKRQFIFDVVNEGGEKEKMELFVNFCEDTIFEM
  QLAAQISESDLNERSANKEESEKERPEEQGPRMAFFSILTVRSALFALRYNILTLMRMLS
  LKSLKKQMKKVKKMTVKDMVTAFFSSYWSIFMTLLHFVASVFRGFFRIICSLLLGGSLVE
  GAKKIKVAELLANMPDPTQDEVRGDGEEGERKPLEAALPSEDLTDLKELTEESDLLSDIF
  GLDLKREGGQYKLIPHNPNAGLSDLMSNPVPMPEVQEKFQEQKAKEEEKEEKEETKSEPE
  KAEGEDGEKEEKAKEDKGKQKLRQLHTHRYGEPEVPESAFWKKIIAYQQKLLNYFARNFY
  NMRMLALFVAFAINFILLFYKVSTSSVVEGKELPTRSSSENAKVTSLDSSSHRIIAVHYV
  LEESSGYMEPTLRILAILHTVISFFCIIGYYCLKVPLVIFKREKEVARKLEFDGLYITEQ
  PSEDDIKGQWDRLVINTQSFPNNYWDKFVKRKVMDKYGEFYGRDRISELLGMDKAALDFS
  DAREKKKPKKDSSLSAVLNSIDVKYQMWKLGVVFTDNSFLYLAWYMTMSVLGHYNNFFFA
  AHLLDIAMGFKTLRTILSSVTHNGKQLVLTVGLLAVVVYLYTVVAFNFFRKFYNKSEDGD
  TPDMKCDDMLTCYMFHMYVGVRAGGGIGDEIEDPAGDEYEIYRIIFDITFFFFVIVILLA
  IIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGNDYFDTVPHGFETHTLQEHNLANYLF
  FLMYLINKDETEHTGQESYVWKMYQERCWEFFPAGDCFRKQYEDQLN

• Sequence length: 4967

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs2149404327	RCV002260442	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic; Pathogenic	rs1060500137, rs794728706, rs794728708, rs190140598, rs794728817, rs794728754, rs397516510, rs2527697526, rs1685193967	RCV003147725 RCV000477870 RCV001332696 RCV000515377 RCV001801232 RCV001535748 RCV001254617 RCV003148098 RCV001262223	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac arrhythmia	Likely pathogenic	rs193922622	RCV001841540	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs190140598, rs794728826, rs794728803, rs121918597, rs121918600, rs1401116572, rs1682404578	RCV001194068 RCV000769807 RCV001798636 RCV001798004 RCV003149571 RCV003532205 RCV001170258	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1695348814, rs374306538, rs1234449785, rs749930577, rs1663930286, rs794728708, rs190140598, rs794728721, rs794728740, rs794728753, rs794728754, rs794728756, rs794728785, rs794728787, rs794728802, rs794728804, rs794728811, rs794728832, rs2527783445, rs121918597, rs121918600, rs121918602, rs397516539, rs1060500142, rs1060500137, rs1401116572, rs1553263907, rs1553453324, rs397516508, rs1372052481	RCV005271157 RCV002331653 RCV005405781 RCV002335778 RCV002389580 RCV002345634 RCV000620075 RCV002426877 RCV000617576 RCV002336457 RCV002362937 RCV002372117 RCV000247473 RCV004984725 RCV002415777 RCV000621431 RCV002390463 RCV002390465 RCV005480332 RCV004983280 RCV003361019 RCV003298032 RCV000617445 RCV000780694 RCV002338969 RCV002446768 RCV005404571 RCV000620678 RCV000620059 RCV005400733 RCV005403741 RCV000621755 RCV002366033	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic; Pathogenic	rs1694311922, rs2149437479, rs190140598, rs794728753, rs121918602, rs1064796516, rs1553426678, rs397516508, rs397516539	RCV001338818 RCV001379326 RCV000219729 RCV000217048 RCV000151756 RCV004772935 RCV000534378 RCV000036672 RCV000036762	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic; Pathogenic	rs1695348814, rs1663402590, rs760237464, rs1362710187, rs2149437479, rs2149437640, rs1701129738, rs794728747, rs2148789775, rs2149353116, rs2149354389, rs2149314726, rs2150146622, rs2102926494, rs2148724390, rs1682561583, rs2149266454, rs374306538, rs1234449785, rs2149388042, rs2149388137, rs2149354441, rs794728778, rs2148739141, rs2149437622, rs1060500137, rs2102947297, rs2149277178, rs2149437719, rs1328318082, rs2149353940, rs2148707460, rs2102947618, rs2547479238, rs730880187, rs730880201, rs1558393802, rs2528051422, rs1288202574, rs772220753, rs2546926703, rs2527784909, rs764772142, rs1014561815, rs794728706, rs794728708, rs190140598, rs794728721, rs794728817, rs794728740, rs794728746, rs794728753, rs794728754, rs794728756, rs794728704, rs794728777, rs794728779, rs794728782, rs794728783, rs794728785, rs771994461, rs794728786, rs794728787, rs794728803, rs794728804, rs794728810, rs794728811, rs794728832, rs1250457347, rs2527785804, rs2546926824, rs2528379037, rs1573300872, rs2527697526, rs886037908, rs886037907, rs2528138701, rs121918597, rs121918598, rs121918599, rs121918600, rs121918601, rs121918602, rs121918603, rs121918604, rs121918605, rs1415931588, rs2528507871, rs2547025987, rs1663391660, rs2527785680, rs1378818859, rs2546959528, rs28677142, rs2546959354, rs2528295554, rs1273246817, rs1060500142, rs1060500156, rs1060500150, rs1085307997, rs1553343100, rs865784613, rs1553454821, rs1553263875, rs794728802, rs1553339086, rs1401116572, rs1553339084, rs1553531703, rs397516508, rs397516539, rs1558405887, rs1558698334, rs1558405816, rs397516510, rs1558481148, rs1558424746, rs1558103974, rs1558381851, rs1558405653, rs1573911397, rs1342435908, rs1209752961, rs1573887621, rs1226397753, rs1573911593, rs1573935244, rs765238394, rs1185619003, rs1573997412, rs1682400034, rs1658967336, rs1695315646, rs1663792524, rs1688657241, rs1702087452, rs1693267402, rs397516504, rs1372052481, rs1680574380, rs1695363148, rs1695349832, rs761834154	RCV002543807 RCV002543597 RCV003106213 RCV003104059 RCV003225185 RCV003104058 RCV002550280 RCV002550966 RCV002551541 RCV002550270 RCV002557515 RCV002255104 RCV001842247 RCV002562193 RCV002552904 RCV002553463 RCV002642006 RCV002549075 RCV002562806 RCV002562809 RCV002550308 RCV002571341 RCV002573405 RCV002563617 RCV002573533 RCV002579534 RCV002573516 RCV002545311 RCV002571223 RCV002642075 RCV002555798 RCV002074452 RCV002074457 RCV002291154 RCV000157444 RCV000157470 RCV002471405 RCV002471814 RCV002471915 RCV002472263 RCV003074912 RCV003084856 RCV002651430 RCV002651432 RCV000477870 RCV000208033 RCV000515377 RCV002288789 RCV001801232 RCV002515328 RCV002516910 RCV002517795 RCV001535748 RCV000208074 RCV002516885 RCV002517785 RCV002516896 RCV002515334 RCV002516898 RCV002515335 RCV001332695 RCV002517801 RCV002516899 RCV001248790 RCV002517804 RCV002517805 RCV002515339 RCV000445354 RCV002517808 RCV002649377 RCV002807315 RCV002846703 RCV002963374 RCV003026117 RCV003023553 RCV003043629 RCV003025288 RCV003148099 RCV000240630 RCV000240650 RCV003225661 RCV000013820 RCV000013821 RCV000013822 RCV000013823 RCV003151726 RCV003151727 RCV000013826 RCV000013827 RCV000013828 RCV003525711 RCV003526956 RCV003526768 RCV003527196 RCV003527236 RCV003527493 RCV003526316 RCV003639640 RCV003639940 RCV003640103 RCV003638194 RCV003638385 RCV003639361 RCV004595233 RCV002522771 RCV002526389 RCV002522780 RCV003103762 RCV002523420 RCV000853603 RCV002527816 RCV002527785 RCV003638678 RCV002526075 RCV002527801 RCV002528364 RCV002470934 RCV002529895 RCV002529923 RCV004786309 RCV002513428 RCV000678970 RCV001248793 RCV002533476 RCV002547161 RCV002547124 RCV002532206 RCV002533506 RCV002531451 RCV002533719 RCV002533615 RCV000790451 RCV002537344 RCV002534800 RCV002534771 RCV002538149 RCV002537074 RCV002537325 RCV002538155 RCV002535983 RCV002537232 RCV000853598 RCV002552507 RCV002554543 RCV002553827 RCV001089520 RCV001089518 RCV001198673 RCV002562463 RCV002560297 RCV002562356 RCV002563753 RCV002563674 RCV001258372 RCV001258371 RCV002544987 RCV002543200	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 2	Likely pathogenic	rs1553322494	RCV000498399	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood-onset schizophrenia	Likely pathogenic	rs863223354, rs863223355	RCV000202345 RCV000202329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conduction disorder of the heart	Likely pathogenic	rs1572627115, rs1688456281	RCV000845375 RCV001256931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left ventricular noncompaction cardiomyopathy	Likely pathogenic	rs730880199	RCV000157468	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Pathogenic; Likely pathogenic	rs794728721, rs794728740, rs794728783, rs121918602	RCV000190228 RCV003318367 RCV000190127 RCV000190229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal familial ventricular fibrillation	Likely pathogenic; Pathogenic	rs761834154	RCV003325995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RYR2-related disorder	Pathogenic; Likely pathogenic	rs794728708, rs794728712	RCV005222807 RCV003387588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs1553339086	RCV005896757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Pathogenic; Likely pathogenic	rs2149352030, rs2149354389, rs1060500137, rs2527697526, rs2547411368, rs1658967336	RCV001814321 RCV001814322 RCV003147726 RCV003148100 RCV003990364 RCV001814262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventricular fibrillation	Pathogenic	rs190140598	RCV000202619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular dysplasia 9	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrest	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Death in infancy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diastolic dysfunction	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1C	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy with left ventricular noncompaction	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED ARRHYTHMOGENIC VENTRICULAR DYSPLASIA, BIVENTRICULAR FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy 4	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLAMINERGIC VENTRICULAR TACHYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymorphic ventricular tachycardia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature coronary artery atherosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOLYSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA, CHILDHOOD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac arrest	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden death	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syncope	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation, paroxysmal familial, type 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, POLYMORPHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	21531043, 28476886	Associate	★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	15466642, 16818210		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	31263958		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	12106942, 15131021, 16436635, 17062961, 17234962, 17556193, 17984046, 19926015, 20427316, 21659649, 22174035, 22221940, 23040497, 23651034, 25440180, 27733687, 27756708, 30296944, 31337358, 31994352, 32077934, 32663189, 32980690, 33825858, 34730774, 35439358, 35931078, 36348625, 37122207, 37201768, 37210947, 37387319, 37894987, 37967257, 39956048	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	11159936, 11807805, 12459180, 12919952, 15176428, 15336972, 16096717, 16769042, 18362417, 24447446, 24978818, 25041964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	12919952, 20045464, 22174035, 25041964, 25445213, 27927985, 33831308, 35526016, 36693454	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	17558603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	21126784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia Familial 2	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	15131021, 20045464, 25041964	Associate	★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	11159936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	15176428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	16301704, 16391617, 17875969, 27114410, 28404607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	23829686		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23829686, 36233078	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	31440994		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	LHGDN	15851612, 17875969		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	21179275	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	22456474, 22814392, 22828895, 23498838, 25389315, 26169582, 27733687, 27857207, 28181690, 30219899, 30496756, 30959203, 31028179, 31185731, 31562981		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	22814392, 27733687, 27857207, 30219899, 30678657, 36335801	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30665119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21151189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26742492, 26781567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	26742492		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26742492	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	32048431	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	16272262, 29434162, 36070930	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18431693, 34888385	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	26230511	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24447446, 30389366		★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	36335801, 37387319	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	36070930	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	22814392	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11159936, 12401811, 22374134, 28536302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	28359509, 35526016, 36357925	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31024045, 37391705	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	33984427	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22515980, 29930088	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	17875969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	24394973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24394973		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20009918		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	20009918	Associate	★☆☆☆☆ Found in Text Mining only
Catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic Polymorphic Ventricular Tachycardia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	Catecholaminergic Polymorphic Ventricular Tachycardia	CLINGEN_DG	10830164, 11157710, 11208676, 12169647, 12837242, 18483626, 21768539, 2380170, 27988446		★☆☆☆☆ Found in Text Mining only
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	Catecholaminergic Polymorphic Ventricular Tachycardia	CLINVAR_DG	14571276, 15721128, 16188589, 18752142, 19926015, 20106799, 21454795, 24025405, 24136861, 27231019, 28237968		★☆☆☆☆ Found in Text Mining only
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	Catecholaminergic Polymorphic Ventricular Tachycardia	BEFREE	22178870, 22677073		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	11159936, 11807805, 15336972, 28687594		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	23829686		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	14659699, 20408814		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	36578478	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	30403697, 37967257	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21531043	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	21531043	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29575536, 35975176	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36453019	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	17515962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	11807805, 11897558, 12401811, 14532276, 14659699, 15016728, 15073377, 15201156, 15322274, 15336974, 15336975, 16483256, 16626281, 16769042, 18006456, 18045169, 18362417, 19300450, 19482609, 19879546, 20408814, 21291389, 22163007, 22511749, 22814392, 23507255, 25036739, 25773045, 26196381, 27585747, 27626620, 27771553, 28065668, 28131631, 28451724, 28612155, 28630041, 29248564, 29500669, 29521549, 29900930, 30209242, 30308486, 30385719, 30541771, 30574097, 30885011, 30928430, 31143551, 31811858, 31837328, 9476544		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26196381		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26196381		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26196381	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26196381		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	29676187		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	12919952	Associate	★☆☆☆☆ Found in Text Mining only
Cyclical vomiting syndrome (disorder)	Cyclical Vomiting Syndrome	BEFREE	25925909		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22814392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22648972		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22648972, 25844899, 30987285		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25844899		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	CTD_human_DG	16685413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	25773045		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	25645121		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	25069764	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30792355		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36168622	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	40118787	Associate	★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial ventricular tachycardia	Ventricular tachycardia	BEFREE	11157710, 15197150		★☆☆☆☆ Found in Text Mining only
Familial ventricular tachycardia	Ventricular tachycardia	CTD_human_DG	20080988, 20513597		★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	29676187		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30367044		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22814392		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31135957		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	14659699, 15201156, 15831148, 16272262, 16436635, 17081562, 19226252, 27585747, 30574097, 30792355, 31143551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	16436635, 22814392, 24427266, 27452199, 29434162, 32077934, 36070930, 36084744, 37387319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	11807805, 11897558, 12401811, 14532276, 14659699, 15016728, 15073377, 15201156, 15322274, 15336974, 16483256, 16626281, 16769042, 17052226, 18006456, 18045169, 18362417, 19300450, 19482609, 19879546, 21291389, 22163007, 22511749, 23507255, 25036739, 25773045, 26196381, 27585747, 27626620, 27771553, 28065668, 28131631, 28451724, 28612155, 28630041, 29248564, 29500669, 29521549, 30209242, 30308486, 30385719, 30541771, 30574097, 30885011, 30928430, 31143551, 31811858, 31837328, 9476544		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	22814392, 25036739, 28359509, 35526016, 37391705, 37894987	Associate	★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	21179275		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	21179275	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	36233078	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	31263958		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	22174035	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	40118787	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11157698, 29047093, 31030596		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22374134, 29930088, 30029588, 30835254		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	26573135, 9607712		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22374134, 29930088, 30029588		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35703484	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	30849713		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	21531043		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30170228		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	37387319	Associate	★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	26018045		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	30367044		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	16188589, 16818210, 17222736, 19926015, 21699856, 21964171, 22677073, 23098067, 26228265, 27114410, 29925740		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	19926015, 21964171, 22956155, 26309258, 28449774, 29434162, 35354758, 36480497, 36496072	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	GENOMICS_ENGLAND_DG	21126784		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long Qt Syndrome 2	Long QT Syndrome	BEFREE	30938413		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	31516575		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31135957		★☆☆☆☆ Found in Text Mining only
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	27558158	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26928227		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17330843		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31647501	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31114513		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	25925909		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	21531043		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	9546812	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30209242, 30574097		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	21291389		★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	34813985	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28771594		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	28771594	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31135957, 31516575		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31235574		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28476886		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21531043	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30170228		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29439404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	31564830	Stimulate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	21652165, 25389315		★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	BEFREE	12093772, 25036739		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	17984046, 25036739, 33664309, 33825858, 39180845	Associate	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	12106942, 12919952, 16272262, 16436635, 16823244, 17556193, 19084807, 19216760, 19926015, 20045464, 21659649, 21699856, 21964171, 22174035, 22178870, 22749309, 22821214, 23040497, 23098067, 23595086, 23684427, 25041964, 25463374, 25835811, 26114861, 26153920, 26228265, 26309258, 26432584, 27452199, 27491078, 27733687, 28158428, 28404607, 29071820, 29434162, 29453246, 29497013, 29668588, 30296944, 30403697, 30849713, 31382203, 31875585, 31994352, 32315959, 32663189, 32931925, 32980690, 33315912, 33640691, 33686871, 33825858, 34166122, 34557911, 34730774, 35101670, 35135837, 35165125, 35245853, 35353122, 35354758, 35439358, 35446340, 35931078, 36369981, 37210947, 37387319, 37740238, 38024821, 39180845, 39321749, 39595626, 39826349, 39956048	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiration Disorders	Respiration Disorders	BEFREE	23829686		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	23829686	Associate	★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	11157698		★☆☆☆☆ Found in Text Mining only
Schizophrenia Childhood	Schizophrenia	Pubtator	26508570	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	CLINVAR_DG	26508570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	22814392, 30849713	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29150444		★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	26228265		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	25440180	Associate	★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31135957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	32801999	Associate	★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	BEFREE	12459180, 26153920		★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	CTD_human_DG	20080988, 20513597		★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	29686704		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	12919952, 15131021, 16436635, 17234962, 17984046, 19926015, 21659649, 22221940, 22677073, 23040497, 23595086, 25041964, 25440180, 25463374, 25835811, 27256466, 28449774, 28789916, 29453246, 30296944, 31913406, 32980690, 35357185, 36369981, 37122207, 37210947, 38024821	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	12015469, 15271719, 15322274, 16239587, 16672364, 22787013, 24978818, 25041964, 25480325, 25773045, 26348911, 28316073, 29170159, 30355031, 30445170		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	LHGDN	12919952, 15887426, 16272262		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CTD_human_DG	18052993, 20944434		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	17515962		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	36453019	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	9736058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31516575		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	27756708		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	27756708, 33664309	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30413023		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	25773045		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36578478	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	11897558, 12015469, 12169647, 14659699, 15073377, 15197150, 15201156, 15720454, 16909197, 17052226, 17062961, 17956253, 18092949, 20408814, 21659649, 22174035, 22178870, 22221940, 23295832, 23507255, 25480325, 25773045, 27756708, 28789916, 29132927, 29439404, 30203424, 31028179		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	36084744	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	30203424		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	33686871, 34730774, 35354758	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular Fibrillation	Ventricular Fibrillation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	24950728, 25036739		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	19216760, 22221940, 25463374, 27756708, 37122207	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17515962, 30308486		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	UNIPROT_DG	11157710, 11208676, 12093772, 12106942, 14571276, 15046072, 15046073, 15466642, 15544015, 16188589, 17984046, 24793461, 25372681, 27733687		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG	11157710, 16301704, 16391617, 17875969, 21126784, 27114410, 28404607		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CLINVAR_DG	11159936, 12093772, 12106942, 14571276, 15131021, 15364606, 15364613, 15466642, 15544015, 15721128, 15749201, 16084945, 16188589, 16239587, 16391617, 16517285, 16873551, 17062961, 18752142, 19398665, 19541610, 19913485, 19926015, 20106799, 20157052, 20676041, 20851825, 20961976, 21292648, 21454795, 21616285, 22221940, 22373669, 22374134, 22787013, 22828895, 23595086, 23871484, 24025405, 24136861, 25087098, 25193700, 25440180, 26114861, 26153920, 27482086, 28237968, 28422759, 28449774, 28600387		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	11807805, 12093772, 12919952, 14571276, 14659699, 15176428, 15201156, 15336972, 15336975, 15544015, 15720454, 15749201, 15887426, 15913575, 16093511, 16188589, 16272262, 16436635, 16601229, 16672364, 16818210, 16843546, 17052226, 17081562, 17234962, 17347175, 17556193, 17666061, 18045169, 18262818, 18362417, 18469084, 19027025, 19068246, 19216760, 19261510, 19398417, 19568611, 19926015, 20080988, 20676041, 20851825, 20944434, 21270101, 21315846, 21646727, 21652165, 21659649, 21699856, 21768539, 21872879, 21954897, 22174035, 22178870, 22222782, 22422768, 22519458, 22584762, 22608700, 22711277, 22749309, 22787013, 22828895, 22962621, 23040497, 23098067, 23152493, 23295832, 23498838, 23595086, 23684427, 24113177, 24394973, 24447446, 24950728, 24978818, 25041964, 25092222, 25440180, 25463374, 25480325, 25648700, 25775566, 25835811, 25844899, 25955245, 26018045, 26114861, 26121139, 26228265, 26348911, 26705554, 26827896, 27114410, 27157848, 27452199, 27646203, 27668923, 27733687, 27838126, 27988446, 28082361, 28096415, 28158428, 28237968, 28422759, 28620067, 28687594, 28789916, 28961276, 29032884, 29071820, 29132927, 29178653, 29235522, 29248564, 29427818, 29477366, 29668588, 29720499, 29760739, 30170228, 30209242, 30355031, 30389366, 30399185, 30403697, 30413023, 30615235, 30849713, 30912151, 31028179, 31039485, 31112425, 31167968, 31382203, 31786768		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CTD_human_DG	20080988, 20513597		★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	22828895, 25463374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	16272262	Associate	★☆☆☆☆ Found in Text Mining only