CACNA1C (calcium voltage-gated channel subunit alpha1 C)

Gene

• Entrez ID: 775
• Gene name: Calcium voltage-gated channel subunit alpha1 C
• Gene symbol: CACNA1C
• Synonyms (NCBI Gene): CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8
• Chromosome: 12
• Chromosome location: 12p13.33
• Summary: This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56394008	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs79891110	G>A,T	Pathogenic, not-provided	Stop gained, coding sequence variant, intron variant, missense variant
rs80315385	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs111606207	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs121912775	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, pathogenic	Coding sequence variant, missense variant
rs121912776	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs141633456	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs184684058	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs186741807	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs200330469	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200800133	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201258230	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201345843	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201756421	T>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367895193	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs369079645	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370576211	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372702466	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374857905	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs375534041	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123517	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs527741368	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs545511851	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs575583988	GAG>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, inframe deletion
rs587782933	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs730880056	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs747654175	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750459136	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750835733	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs750998195	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754527651	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758786846	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs760888275	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs773528195	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786205745	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs786205748	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205753	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727587	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797044881	T>C	Pathogenic	Missense variant, coding sequence variant
rs886042224	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs1057517711	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1467561684	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555672574	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555836187	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1555968941	G>A,C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs1568469857	C>A	Pathogenic	Missense variant, coding sequence variant
rs1569139160	C>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001203	hsa-miR-133a-3p	Luciferase reporter assay, Western blot	19136465
MIRT568987	hsa-miR-4270	PAR-CLIP	20371350
MIRT568986	hsa-miR-4441	PAR-CLIP	20371350
MIRT568984	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT568985	hsa-miR-4487	PAR-CLIP	20371350
MIRT568983	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT568982	hsa-miR-4505	PAR-CLIP	20371350
MIRT568981	hsa-miR-5787	PAR-CLIP	20371350
MIRT568980	hsa-miR-4300	PAR-CLIP	20371350
MIRT568979	hsa-miR-5591-5p	PAR-CLIP	20371350
MIRT568978	hsa-miR-6726-5p	PAR-CLIP	20371350
MIRT568977	hsa-miR-920	PAR-CLIP	20371350
MIRT568976	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568975	hsa-miR-4492	PAR-CLIP	20371350
MIRT568974	hsa-miR-4498	PAR-CLIP	20371350
MIRT568972	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT568973	hsa-miR-762	PAR-CLIP	20371350
MIRT568971	hsa-miR-3175	PAR-CLIP	20371350
MIRT568970	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT568969	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT568968	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568967	hsa-miR-4489	PAR-CLIP	20371350
MIRT568966	hsa-miR-4283	PAR-CLIP	20371350
MIRT568965	hsa-miR-185-3p	PAR-CLIP	20371350
MIRT568964	hsa-miR-4425	PAR-CLIP	20371350
MIRT568963	hsa-miR-3147	PAR-CLIP	20371350
MIRT568962	hsa-miR-2110	PAR-CLIP	20371350
MIRT568961	hsa-miR-6810-5p	PAR-CLIP	20371350
MIRT568960	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT568959	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT568958	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT568957	hsa-miR-450a-2-3p	PAR-CLIP	20371350
MIRT568956	hsa-miR-6778-5p	PAR-CLIP	20371350
MIRT568955	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT444938	hsa-miR-3938	PAR-CLIP	22100165
MIRT444936	hsa-miR-4780	PAR-CLIP	22100165
MIRT444937	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT444935	hsa-miR-623	PAR-CLIP	22100165
MIRT444934	hsa-miR-204-5p	PAR-CLIP	22100165
MIRT444933	hsa-miR-211-5p	PAR-CLIP	22100165
MIRT444932	hsa-miR-4755-5p	PAR-CLIP	22100165
MIRT444931	hsa-miR-5006-3p	PAR-CLIP	22100165
MIRT732349	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27341015
MIRT732349	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27341015
MIRT568987	hsa-miR-4270	PAR-CLIP	20371350
MIRT568986	hsa-miR-4441	PAR-CLIP	20371350
MIRT568984	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT568985	hsa-miR-4487	PAR-CLIP	20371350
MIRT568983	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT568982	hsa-miR-4505	PAR-CLIP	20371350
MIRT568981	hsa-miR-5787	PAR-CLIP	20371350
MIRT568980	hsa-miR-4300	PAR-CLIP	20371350
MIRT568979	hsa-miR-5591-5p	PAR-CLIP	20371350
MIRT568978	hsa-miR-6726-5p	PAR-CLIP	20371350
MIRT568977	hsa-miR-920	PAR-CLIP	20371350
MIRT568976	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568975	hsa-miR-4492	PAR-CLIP	20371350
MIRT568974	hsa-miR-4498	PAR-CLIP	20371350
MIRT568972	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT568973	hsa-miR-762	PAR-CLIP	20371350
MIRT568971	hsa-miR-3175	PAR-CLIP	20371350
MIRT568970	hsa-miR-1343-5p	PAR-CLIP	20371350
MIRT568969	hsa-miR-939-5p	PAR-CLIP	20371350
MIRT568968	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568967	hsa-miR-4489	PAR-CLIP	20371350
MIRT568966	hsa-miR-4283	PAR-CLIP	20371350
MIRT568965	hsa-miR-185-3p	PAR-CLIP	20371350
MIRT568964	hsa-miR-4425	PAR-CLIP	20371350
MIRT568963	hsa-miR-3147	PAR-CLIP	20371350
MIRT568962	hsa-miR-2110	PAR-CLIP	20371350
MIRT568961	hsa-miR-6810-5p	PAR-CLIP	20371350
MIRT568960	hsa-miR-3150a-3p	PAR-CLIP	20371350
MIRT568959	hsa-miR-6763-5p	PAR-CLIP	20371350
MIRT568958	hsa-miR-6857-5p	PAR-CLIP	20371350
MIRT568957	hsa-miR-450a-2-3p	PAR-CLIP	20371350
MIRT568956	hsa-miR-6778-5p	PAR-CLIP	20371350
MIRT568955	hsa-miR-6791-5p	PAR-CLIP	20371350
MIRT444938	hsa-miR-3938	PAR-CLIP	22100165
MIRT444936	hsa-miR-4780	PAR-CLIP	22100165
MIRT444937	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT444935	hsa-miR-623	PAR-CLIP	22100165
MIRT444934	hsa-miR-204-5p	PAR-CLIP	22100165
MIRT444933	hsa-miR-211-5p	PAR-CLIP	22100165
MIRT444932	hsa-miR-4755-5p	PAR-CLIP	22100165
MIRT444931	hsa-miR-5006-3p	PAR-CLIP	22100165
MIRT857479	hsa-miR-1197	CLIP-seq
MIRT857480	hsa-miR-1252	CLIP-seq
MIRT857481	hsa-miR-29a	CLIP-seq
MIRT857482	hsa-miR-29b	CLIP-seq
MIRT857483	hsa-miR-29c	CLIP-seq
MIRT857484	hsa-miR-3065-3p	CLIP-seq
MIRT857485	hsa-miR-3153	CLIP-seq
MIRT857486	hsa-miR-3165	CLIP-seq
MIRT857487	hsa-miR-3183	CLIP-seq
MIRT857488	hsa-miR-3190	CLIP-seq
MIRT857489	hsa-miR-3202	CLIP-seq
MIRT857490	hsa-miR-3915	CLIP-seq
MIRT857491	hsa-miR-3928	CLIP-seq
MIRT857492	hsa-miR-4299	CLIP-seq
MIRT857493	hsa-miR-4312	CLIP-seq
MIRT857494	hsa-miR-4317	CLIP-seq
MIRT857495	hsa-miR-4326	CLIP-seq
MIRT857496	hsa-miR-4434	CLIP-seq
MIRT857497	hsa-miR-4476	CLIP-seq
MIRT857498	hsa-miR-4516	CLIP-seq
MIRT857499	hsa-miR-4531	CLIP-seq
MIRT857500	hsa-miR-4533	CLIP-seq
MIRT857501	hsa-miR-4534	CLIP-seq
MIRT857502	hsa-miR-4641	CLIP-seq
MIRT857503	hsa-miR-4652-3p	CLIP-seq
MIRT857504	hsa-miR-4712-3p	CLIP-seq
MIRT857505	hsa-miR-4723-3p	CLIP-seq
MIRT857506	hsa-miR-4747-5p	CLIP-seq
MIRT857507	hsa-miR-4765	CLIP-seq
MIRT857508	hsa-miR-508-5p	CLIP-seq
MIRT857509	hsa-miR-550a	CLIP-seq
MIRT857510	hsa-miR-619	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT857512	hsa-miR-3189-5p	CLIP-seq
MIRT857513	hsa-miR-4268	CLIP-seq
MIRT857514	hsa-miR-4467	CLIP-seq
MIRT857515	hsa-miR-4469	CLIP-seq
MIRT857516	hsa-miR-4655-3p	CLIP-seq
MIRT857517	hsa-miR-4660	CLIP-seq
MIRT857518	hsa-miR-4736	CLIP-seq
MIRT857519	hsa-miR-4758-3p	CLIP-seq
MIRT857520	hsa-miR-4778-3p	CLIP-seq
MIRT857521	hsa-miR-4793-5p	CLIP-seq
MIRT857522	hsa-miR-940	CLIP-seq
MIRT857523	hsa-miR-1228	CLIP-seq
MIRT857524	hsa-miR-1286	CLIP-seq
MIRT857525	hsa-miR-28-5p	CLIP-seq
MIRT857526	hsa-miR-3125	CLIP-seq
MIRT857527	hsa-miR-3126-3p	CLIP-seq
MIRT857528	hsa-miR-3139	CLIP-seq
MIRT857485	hsa-miR-3153	CLIP-seq
MIRT857486	hsa-miR-3165	CLIP-seq
MIRT857488	hsa-miR-3190	CLIP-seq
MIRT857489	hsa-miR-3202	CLIP-seq
MIRT857529	hsa-miR-34a	CLIP-seq
MIRT857530	hsa-miR-34c-5p	CLIP-seq
MIRT857531	hsa-miR-3616-3p	CLIP-seq
MIRT857532	hsa-miR-377	CLIP-seq
MIRT857533	hsa-miR-3916	CLIP-seq
MIRT857534	hsa-miR-4271	CLIP-seq
MIRT857535	hsa-miR-4419a	CLIP-seq
MIRT857536	hsa-miR-4436a	CLIP-seq
MIRT857537	hsa-miR-4436b-3p	CLIP-seq
MIRT857538	hsa-miR-448	CLIP-seq
MIRT857539	hsa-miR-449a	CLIP-seq
MIRT857540	hsa-miR-449b	CLIP-seq
MIRT857541	hsa-miR-4510	CLIP-seq
MIRT857500	hsa-miR-4533	CLIP-seq
MIRT857542	hsa-miR-4667-5p	CLIP-seq
MIRT857543	hsa-miR-4700-5p	CLIP-seq
MIRT857544	hsa-miR-4725-3p	CLIP-seq
MIRT857545	hsa-miR-4728-5p	CLIP-seq
MIRT857546	hsa-miR-4733-3p	CLIP-seq
MIRT857506	hsa-miR-4747-5p	CLIP-seq
MIRT857547	hsa-miR-4789-5p	CLIP-seq
MIRT857548	hsa-miR-4795-5p	CLIP-seq
MIRT857549	hsa-miR-516b	CLIP-seq
MIRT857550	hsa-miR-602	CLIP-seq
MIRT857551	hsa-miR-708	CLIP-seq
MIRT857552	hsa-miR-877	CLIP-seq
MIRT857553	hsa-miR-939	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT1954673	hsa-miR-3646	CLIP-seq
MIRT1954674	hsa-miR-3679-3p	CLIP-seq
MIRT1954675	hsa-miR-4649-3p	CLIP-seq
MIRT1954676	hsa-miR-4659a-3p	CLIP-seq
MIRT1954677	hsa-miR-4659b-3p	CLIP-seq
MIRT857508	hsa-miR-508-5p	CLIP-seq
MIRT1954678	hsa-miR-544b	CLIP-seq
MIRT857522	hsa-miR-940	CLIP-seq
MIRT857511	hsa-miR-1827	CLIP-seq
MIRT2192271	hsa-miR-3942-3p	CLIP-seq
MIRT857520	hsa-miR-4778-3p	CLIP-seq
MIRT2436020	hsa-miR-1297	CLIP-seq
MIRT2436021	hsa-miR-26a	CLIP-seq
MIRT2436022	hsa-miR-26b	CLIP-seq
MIRT2436023	hsa-miR-3140-5p	CLIP-seq
MIRT2436024	hsa-miR-3661	CLIP-seq
MIRT2436025	hsa-miR-421	CLIP-seq
MIRT2436026	hsa-miR-4452	CLIP-seq
MIRT2436027	hsa-miR-4465	CLIP-seq
MIRT1954676	hsa-miR-4659a-3p	CLIP-seq
MIRT1954677	hsa-miR-4659b-3p	CLIP-seq
MIRT2436028	hsa-miR-4680-3p	CLIP-seq
MIRT2436029	hsa-miR-4709-5p	CLIP-seq
MIRT2436030	hsa-miR-4738-3p	CLIP-seq
MIRT2436031	hsa-miR-494	CLIP-seq
MIRT2436032	hsa-miR-631	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002520	Process	Immune system development	IMP	15454078
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	7737988, 8392192, 9013606, 9087614, 9607315, 11741969, 12130699, 12176756, 16299511, 17071743, 28119464, 29078335
GO:0005245	Function	Voltage-gated calcium channel activity	IEA
GO:0005245	Function	Voltage-gated calcium channel activity	IMP	8099908, 15863612, 20953164, 24728418, 25260352, 27218670, 31430211
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11438518, 15140941, 18535142, 21134641, 21653829, 37207277
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	15140941
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	11206130
GO:0005886	Component	Plasma membrane	IDA	11206130
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IBA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	12130699, 17224476
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0005929	Component	Cilium	IDA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	12130699
GO:0007507	Process	Heart development	IMP	15454078
GO:0008331	Function	High voltage-gated calcium channel activity	IBA
GO:0008331	Function	High voltage-gated calcium channel activity	IDA	15454078
GO:0008331	Function	High voltage-gated calcium channel activity	TAS	11576544
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	11576544
GO:0014069	Component	Postsynaptic density	IDA	14140941
GO:0016020	Component	Membrane	IDA	8392192
GO:0016020	Component	Membrane	IEA
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	15454078
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IMP	15454078
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045762	Process	Positive regulation of adenylate cyclase activity	ISS
GO:0045933	Process	Positive regulation of muscle contraction	NAS	34072954
GO:0046872	Function	Metal ion binding	IEA
GO:0051393	Function	Alpha-actinin binding	IPI	17110593
GO:0055085	Process	Transmembrane transport	IEA
GO:0060402	Process	Calcium ion transport into cytosol	ISS
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005
GO:0061337	Process	Cardiac conduction	IMP	24728418
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	IDA	15454078
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	IMP	30023270, 30172029, 30513141, 34163037
GO:0070588	Process	Calcium ion transmembrane transport	IDA	15454078
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	24728418
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	15454078
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	17224476
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IMP	15454078
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	15454078
GO:0086045	Process	Membrane depolarization during AV node cell action potential	IMP	26253506
GO:0086056	Function	Voltage-gated calcium channel activity involved in AV node cell action potential	IMP	26253506
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	11576544
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	15454078, 15863612, 17224476, 26253506
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	15454078, 26253506
GO:0098912	Process	Membrane depolarization during atrial cardiac muscle cell action potential	IMP	17224476
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	15454078
GO:1990454	Component	L-type voltage-gated calcium channel complex	ISS

Other IDs

• MIM: 114205
• HGNC: 1390
• e!Ensembl: ENSG00000151067

Protein

• UniProt ID: Q13936
• Protein name: Voltage-dependent L-type calcium channel subunit alpha-1C (Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle) (Voltage-gated calcium channel subunit alpha Cav1.2)
• Protein function: Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:2472841
• PDB: 1T0J, 2BE6, 2F3Y, 2F3Z, 2LQC, 3G43, 3OXQ, 5V2P, 5V2Q, 6C0A, 6DAD, 6DAE, 6DAF, 6U39, 6U3A, 6U3B, 6U3D, 7L8V, 8EOG, 8EOI, 8FD7, 8FHS, 8HLP, 8HMA, 8HMB, 8UKO, 8UKP, 8WE6, 8WE7, 8WE8, 8WE9, 8WEA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	123 → 416	Ion transport protein	Family
  PF00520	Ion_trans	523 → 764	Ion transport protein	Family
  PF00520	Ion_trans	899 → 955	Ion transport protein	Family
  PF00520	Ion_trans	951 → 1197	Ion transport protein	Family
  PF00520	Ion_trans	1238 → 1324	Ion transport protein	Family
  PF00520	Ion_trans	1320 → 1535	Ion transport protein	Family
  PF16905	GPHH	1544 → 1597	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1607 → 1681	Voltage gated calcium channel IQ domain	Domain
  PF16885	CAC1F_C	1701 → 1819	Voltage-gated calcium channel subunit alpha, C-term	Family
  PF16885	CAC1F_C	2080 → 2190	Voltage-gated calcium channel subunit alpha, C-term	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected throughout the brain, including hippocampus, cerebellum and amygdala, throughout the heart and vascular system, including ductus arteriosus, in urinary bladder, and in retina and sclera in the eye (PubMed:15454078). Expressed
• Sequence:

  MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
  QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
  VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
  YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
  VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
  QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
  TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
  FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
  GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
  IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
  LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
  FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
  GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
  TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
  ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
  IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKILGNADYVF
  TSIFTLEIILKMTAYGAFLHKGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVL
  RVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSD
  SSKQTEAECKGNYITYKDGEVDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPEL
  LYRSIDSHTEDKGPIYNYRVEISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNC
  ELDKNQRQCVEYALKARPLRRYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQH
  YGQSCLFKIAMNILNMLFTGLFTVEMILKLIAFKPKGYFSDPWNVFDFLIVIGSIIDVIL
  SETNHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEENSRISITFFRLFR
  VMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQVFGKIALNDTTE
  INRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNSTEGETPCGSSFA
  VFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWAEYDPEAKGRI
  KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNATLFALVRTALRI
  KTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYATFLIQEYFRKFK
  KRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELDKAMKEAVSAASE
  DDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDTESPSHEKLVDST
  FTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSPAIRVQEVAWKLS
  SNRERHVPMCEDLELRRDSGSAGTQAHCLLLRKANPSRCHSRESQAAMAGQEETSQDETY
  EVKMNHDTEACSEPSLLSTEMLSYQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRA
  SFHLECLKRQKDRGGDISQKTVLPLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPA
  TPGSRGWPPQPVPTLRLEGVESSEKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLM
  VPSQAGAPGRQFHGSASSLVEAVLISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESA
  ADNILSGGAPQSPNGALLPFVNCRDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSS
  L

• Sequence length: 2221

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
Brugada syndrome	Pathogenic; Likely pathogenic	rs121912776, rs199473391	RCV000058283 RCV000058287	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada syndrome 3	Likely pathogenic; Pathogenic	rs786205745, rs79891110, rs121912776, rs2099444326	RCV002498853 RCV003224103 RCV000019202 RCV001249681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CACNA1C-related disorder	Likely pathogenic; Pathogenic	rs2153709491, rs2505887113, rs1601147280, rs1555962470, rs79891110, rs1555968941	RCV003985556 RCV003985581 RCV003985583 RCV003416928 RCV003985262 RCV003985375 RCV000626000	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs1057517711	RCV002230228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs587782933, rs1556047901, rs786205748, rs786205753, rs758786846, rs797044881, rs2532557970, rs2518585587, rs79891110, rs1057517711, rs786205771, rs1467561684	RCV005403766 RCV002342968 RCV002399602 RCV002453577 RCV004020034 RCV005404372 RCV004109715 RCV003177446 RCV002354166 RCV002402099 RCV000617541 RCV004025270	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Conduction disorder of the heart	Likely pathogenic	rs2052999161	RCV001256683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital long QT syndrome	Pathogenic	rs79891110, rs80315385	RCV000058285 RCV000058284	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs1057517711	RCV000584800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic	rs2153655212	RCV005438995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2060536584	RCV001260595	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome	Likely pathogenic; Pathogenic	rs2153440081, rs587782933, rs786205745, rs786205748, rs786205753, rs2528051488, rs79891110, rs80315385, rs1057517711, rs786205771, rs750835733, rs199473391	RCV003647853 RCV000805941 RCV001385670 RCV000232889 RCV000550877 RCV005102897 RCV000199739 RCV001851937 RCV004527557 RCV000631664 RCV000458372 RCV001856203 RCV000475353	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome 8	Pathogenic; Likely pathogenic	rs587782933, rs786205745, rs786205748, rs786205753, rs79891110, rs1057517711, rs750835733, rs1568469857, rs1569139160, rs199473391	RCV003333028 RCV002498853 RCV002250585 RCV000782180 RCV003224103 RCV001808785 RCV000782177 RCV000782181 RCV000782182 RCV004786338	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2154562860, rs2153709491	RCV001785375 RCV002274324	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic	rs2502979421	RCV003324667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Pathogenic; Likely pathogenic	rs2154562881, rs2154577568, rs2153572497, rs2514753529, rs2528223041, rs2502980435, rs761491293, rs2502986210, rs2529624150, rs2497870394, rs2516826656, rs79891110, rs1555968941	RCV004990751 RCV006257359 RCV004594637 RCV002284054 RCV002284055 RCV002466352 RCV003233023 RCV003233025 RCV003326222 RCV003889368 RCV004006249 RCV003224103 RCV002283488	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2154577345	RCV001849839	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Timothy syndrome	Pathogenic; Likely pathogenic	rs1555968941, rs2153440081, rs2153231721, rs587782933, rs2154593437, rs2514746358, rs786205745, rs786205748, rs794727587, rs797044881, rs1556307608, rs2502982456, rs79891110, rs80315385, rs1057517711, rs1467561684, rs199473391, rs1555672574, rs2099444326	RCV001788505 RCV002246476 RCV001809305 RCV005867923 RCV002249324 RCV002286523 RCV000192272 RCV000208468 RCV002287377 RCV000177862 RCV001795308 RCV003387659 RCV003991285 RCV000019199 RCV000019200 RCV004527557 RCV002288982 RCV003152722 RCV001795047 RCV000988767 RCV001249681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventricular fibrillation, paroxysmal familial, type 1	Pathogenic	rs587782933	RCV000143870	★★★★☆ 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
Amyloidosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
arrhythmogenic disorders	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL TIMOTHY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome (shorter-than-normal QT interval)	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITIVE DYSFUNCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Concentric hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, MAJOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
intellectual deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ 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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-traumatic stress disorder	Uncertain risk allele	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
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR AGITATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
QT prolongation and arrhythmias in the absence of other syndromic features	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
short QT interval with or without a Brugada syndrome ECG pattern	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar ClinGen, Disgenet, GenCC ClinGen, Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Short QT Syndrome 4	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden cardiac death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	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
Timothy syndrome type 1	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TIMOTHY SYNDROME TYPE 2	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	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 tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	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
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	28753255		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28083984		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25109799		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26827652	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	28493952		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30102687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	BEFREE	28315637		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	GENOMICS_ENGLAND_DG	29697308		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	21676128, 25290268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	PSYGENET_DG	21676128, 25290268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	Pubtator	25290268	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antibody Deficiency Syndrome	Antibody Deficiency Syndrome	CTD_human_DG	15454078		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20723887, 21676128, 28696432, 29982775		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20723887, 21676128, 28696432, 29982775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	28696432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	37234568	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	26553695		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	25184293, 27502440, 27529678, 27707468, 30279520, 30345660, 30348784, 32012279, 36273583	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29683785		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16734683		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31291898, 34163037	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17071743		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29683785		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	26319023	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27341015, 27488468, 27857207, 30241939, 31131392		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27341015, 27857207, 29568937, 31539150, 33797204, 34100729, 37597360	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29258620		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	27390944		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	28427417, 37227349	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21078228		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	21078228, 28497380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	25290268	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24752249, 26204268, 30392976, 31887354, 32393163, 33076578, 33203140, 35205252, 35220405, 35897673, 36167061	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21624971, 24752249, 25633834, 28753255, 30172029		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15454078		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	16754686, 19154521, 26204268, 28921675, 31805042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	16754686, 26204268, 27897003, 28846756, 33203140, 34163037	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	36193501	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	18317468, 18711365, 19329560, 19621016, 19819557, 20819988, 21057379, 21926972, 22012475, 22085483, 23070075, 23404764, 23437284, 23437964, 23979604, 24280982, 24461634, 24716743, 25290268, 25403839, 25730879, 26401721, 26475575, 27063557, 27271857, 27276213, 27529678, 27790829, 28199072, 28398341, 28525603, 28751646, 28765577, 28792954, 29684488, 30079586, 30100087, 30755265, 31829002, 34035470, 36193501, 37306960, 38012695, 39999946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18711365, 19329560, 19521722, 19621016, 19781653, 19819557, 20723887, 20819988, 21078228, 21292451, 21395576, 21676128, 21767209, 21837483, 22012475, 22464935, 22488967, 22628130, 22647524, 23070075, 23404764, 23406546, 23437284, 23437964, 23568192, 23680436, 23860750, 23880959, 23900723, 23979604, 24108394, 24411473, 24461634, 24581832, 24716743, 25304227, 25843436, 25976633, 26048451, 26227746, 26401721, 26475575, 26476274, 26541689, 27271857, 27276213, 27529678, 27620326, 27790829, 27922594, 28199072, 28398341, 28494468, 28497380, 28765577, 28792954, 29501388, 29684488, 29800644, 30079586, 30100087, 30124797, 31317860, 31634677, 31829002		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	18711365, 21926972, 22182935, 23070075, 23637625		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	18711365, 21926972, 21926974, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	18711365, 20351715, 21926972, 23453885, 24280982, 28072414, 30626913, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23979604, 24411473, 24716743, 25290268, 25304227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	21767209, 22488967, 22647524, 25304227		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25304227	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32734521	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	21767209, 22488967, 22647524		★☆☆☆☆ Found in Text Mining only
Brugada syndrome	Brugada Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome	Brugada syndrome	Pubtator	23575362, 27707468, 30513141	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome (disorder)	Brugada Syndrome	LHGDN	17224476		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	17224476, 20817017, 23575362, 24321233, 28401855, 8392192		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	19358333, 20817017, 23575362, 24321233, 25341504, 30513141		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	GENOMICS_ENGLAND_DG	29697308		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 3	Brugada Syndrome	CLINVAR_DG	17224476		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome 3	Brugada Syndrome	UNIPROT_DG	17224476		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome 3	Brugada Syndrome	GENOMICS_ENGLAND_DG	24728418, 26253506, 28371864, 29697308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brugada Syndrome 3	Brugada Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19861515	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36099101	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30513141, 31430211	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24339868, 29071820	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	24183960, 26253506, 28427417, 33797204	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	Cardiomyopathy	CLINVAR_DG	26253506		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29545480		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	27124316	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	31291898	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29683785		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885, 28540026		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25470093, 27221213, 29800644		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	37107586	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Migraine	Common Migraine	BEFREE	21395576		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASDB_DG	21497890		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	26253506		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	35897673	Associate	★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	27593853		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	20031608		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	20031608		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	37679988	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20031608		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	18711365, 21926972, 21926974, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Bipolar	Bipolar Disorder	BEFREE	28186690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	19388002, 20226536, 20723887, 22705413, 24643163, 26401721, 28765577, 30902660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19388002, 20226536, 20723887, 22705413, 24643163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	26401721, 28765577, 33421489, 38012695	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	19621016, 25403839, 28765577	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25184293, 27390944, 34163037, 40133997	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23229155		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30824586		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	25633834		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30513141		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	30513141, 33818783, 34163037	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30513141		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	27529678, 33663102	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye neoplasms	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	27390944, 30067485	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	19819557		★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27841369		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	27664379		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36810326	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	26253506, 30067485, 33797204	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26253506, 36167061, 40133997	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	29258620	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	25882468		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	20424473		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19225208, 27418245, 32111194, 33663102	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	16610939, 19225208, 27418245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	22949532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24183960, 26253506, 28866666		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG	26253506		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24183960, 28866666		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	28427417	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	CTD_human_DG	15454078		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	35897673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotension	Hypotension	Pubtator	27349457	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33351148	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33797204	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	CTD_human_DG	15454078		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25470093, 27221213, 28696432, 29800644		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34204705, 34604380	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34745571	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28846756, 34163037	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	34563241	Associate	★☆☆☆☆ Found in Text Mining only
Involutional Depression	Involutional Depression	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Involutional paraphrenia	Involutional Paraphrenia	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28949795		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29683785		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	34163037	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	30513141	Associate	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	15454078		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG	15454078, 15863612, 18250309, 19074970, 21685391, 21910241, 23578275, 23580742, 23631430, 23677916, 23690510, 23979604, 24773605, 25691416, 26227324, 26253506, 26822303		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long qt syndrome	Pubtator	19029296, 20809527, 21658281, 23677916, 23678275, 23979604, 25184293, 26253506, 27390944, 29071820, 29258620, 29691127, 30067485, 30345660, 30348784, 30588629, 31004778, 31430211, 33080735, 33797204, 34163037, 35862440, 35897673, 36272554, 36273583, 36496072, 40159220	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT Syndrome	Long QT Syndrome	BEFREE	21658281, 23677916, 24728418, 25184293, 25633834, 26253506, 27218670, 27390944, 30172029, 31408100, 31430211		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	29501388	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	29501388		★☆☆☆☆ Found in Text Mining only
Major depression, single episode	Mental Depression	BEFREE	28765577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	19781653, 20226536, 21042317, 21078228, 21676128, 22647524, 23680436, 23860750, 24262814, 24612926, 24643163, 27260792, 28497380, 28696432, 28989100, 31352702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASDB_DG	20351715, 22472876		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	20351715, 23453885, 30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24262814, 24411473, 24612926, 24642287, 24643163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	CTD_human_DG	28696432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Manic	Manic Disorder	CTD_human_DG	18711365, 21926972, 21926974, 31043756		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	18711365, 21926972, 21926974, 31043756		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	36972239	Associate	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	22012475	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19388002, 20226536, 20723887, 22705413, 24643163, 26401721, 28765577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19388002, 20226536, 20723887, 22705413, 24643163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	20638048, 20819988, 21078228, 22705413, 24262814, 24269271, 24411473, 26401721, 26541689, 26611642, 27276213, 27620326, 28165117, 28497380, 28604818, 28696432, 28792954, 29362489, 29733866, 29982775, 30304534, 30755265, 30902660, 30909026		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	GWASDB_DG	24280982		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19819557, 21395576		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	19819557, 32233732	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	19819557	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	20723887, 21276201, 22665259, 22957138, 23680436, 24643163, 24944871, 28165117, 30909026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	22665259, 22957138, 23680436, 24643163, 24944871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	24944871, 30755265, 30909026, 33203140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	36167061	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	34745571	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	26785143		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19136465, 24916694		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29501388, 30102687		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28921675, 29982775, 31805042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	21078228, 21767209, 24411473, 24461634, 24642287, 26048451, 27790829, 28607492, 30079586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	24642287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23880959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	32393163	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37047701	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34210324	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25173401	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34745571, 37306960	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal familial ventricular fibrillation	Paroxysmal ventricular fibrillation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	23575362	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	29581247	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28753255, 30172029		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29362489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychosis, Involutional	Psychosis	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21078228, 21767209, 24262814, 24411473, 24461634, 24642287, 25290268, 26048451, 27790829, 28607492, 30079586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	24262814, 24642287, 25290268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	GWASDB_DG	24280982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	27790829, 30079586, 33203140	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reactive hypoglycemia	Reactive hypoglycemia	CTD_human_DG	15454078		★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	19621016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal carnitine transport defect	Renal Carnitine Transport Defect	GENOMICS_ENGLAND_DG	29697308		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	25184293	Associate	★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salaam Seizures	Salaam Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19329560, 19521722, 19621016, 20600464, 20819988, 21037240, 21057379, 21078228, 21676128, 21767209, 21926972, 22012475, 22614287, 22665259, 22957138, 23404764, 23437284, 23860750, 23880959, 23900723, 24262814, 24275578, 24355530, 24461634, 24642287, 25290268, 25470093, 25588813, 26048451, 26049408, 26204268, 26227746, 26255836, 26276307, 26475575, 27276213, 27620326, 27790829, 27837920, 27922594, 28186690, 28497380, 28593527, 28607492, 28696432, 28792954, 28921675, 29501388, 29800644, 30079586, 30100087, 30124797, 30176250, 30268820, 30304534, 30607529, 30705251, 30902660, 31033230, 31061683, 31076262, 31805042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	19621016, 20819988, 21057379, 21926972, 21926974, 22012475, 22614287, 22883350, 23404764, 23437284, 23453885, 24461634, 25290268, 25403839, 25453756, 26204268, 26401721, 26462458, 26475575, 27276213, 27790829, 28525603, 28792954, 29501388, 30079586, 30100087, 31061683, 31176952, 34035470, 35220405, 37306960, 39999946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974, 22688191, 23637625, 23974872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	22688191, 23453885, 23974872, 24280982, 25056061, 26198764, 28540026, 28991256, 29483656, 29503163, 30285260, 30626913, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24262814, 24642287, 25290268, 25470093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	25184293, 32233732, 36347939	Associate	★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	28427417		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Short QT Syndrome 1	Short qt syndrome	Pubtator	28427417, 33203140	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	29568937		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	29568937, 33797204	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	28792954		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26406417		★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	CTD_human_DG	28696432		★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	23549079, 23580742, 27593853, 29736926		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	27390944, 30067485, 33797204, 36347939	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	BEFREE	29736926		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	27502440	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	27502440		★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	CTD_human_DG	15454078		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	CLINVAR_DG	15454078		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	UNIPROT_DG	15454078, 15863612, 25260352, 26253506		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	GENOMICS_ENGLAND_DG	15454078, 24728418, 26253506, 28371864, 29697308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	BEFREE	16754686, 19154521, 21664226, 21910241, 22106044, 23549079, 23580742, 23677916, 23690510, 23979604, 24728418, 24752249, 25184293, 25260352, 25633834, 25691416, 26204268, 27390944, 27593853, 27868338, 28315637, 28753255, 29736926, 31408100, 31805042		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy syndrome	Pubtator	16754686, 18250309, 22106044, 23677916, 23678275, 23979604, 24752249, 24773605, 25184293, 25260352, 26204268, 26253506, 27390944, 27502440, 28315637, 29071820, 30067485, 30513141, 31324123, 33797204, 34163037, 34990580, 35862440, 35897673, 36167061, 36347939, 40133997	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Timothy syndrome	Timothy Syndrome	ORPHANET_DG	24093767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tonic - clonic seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de pointes	Pubtator	29258620	Associate	★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19781653, 20226536, 21078228, 21676128, 22647524, 23860750, 24262814, 24612926, 24643163, 28497380, 28696432, 28989100, 31352702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	24262814, 24411473, 24612926, 24642287, 24643163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular arrhythmia	Ventricular arrhythmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	23575362, 29258620, 30279520, 30345660	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	30279520		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only