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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	845
Gene name	Calsequestrin 2
Gene symbol	CASQ2
Synonyms (NCBI Gene)	PDIB2
Chromosome	1
Chromosome location	1p13.1
Summary	The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stor

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434549	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121434550	A>T	Pathogenic	Missense variant, coding sequence variant
rs139228801	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139281637	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant
rs141314684	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146664754	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs147941846	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs148057999	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs148824162	T>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs199939582	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs200643387	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375598471	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs397507555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397507556	G>A,T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs397516641	GTC>-	Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, inframe deletion
rs397516643	TGA>GT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs756636650	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs757789935	A>G	Pathogenic	Splice donor variant
rs762381137	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs763955301	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775663612	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs776874142	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs786205106	AAGAATATACAGGCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205791	C>G	Pathogenic	Splice donor variant
rs786205792	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786205795	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205799	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657635	C>A	Likely-pathogenic	Splice acceptor variant
rs886039816	T>C	Pathogenic	Coding sequence variant, missense variant
rs905985075	C>A,G,T	Pathogenic	Splice donor variant
rs1060502164	T>C	Likely-pathogenic	Splice acceptor variant
rs1436844070	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1471576368	C>A	Pathogenic	Coding sequence variant, stop gained
rs1553197939	A>G	Likely-pathogenic	Initiator codon variant, missense variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021966	hsa-miR-128-3p	Microarray	17612493
MIRT739627	hsa-miR-124	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq
MIRT1956171	hsa-miR-1231	CLIP-seq
MIRT739627	hsa-miR-124	CLIP-seq
MIRT1956172	hsa-miR-1976	CLIP-seq
MIRT1956173	hsa-miR-3692	CLIP-seq
MIRT1956174	hsa-miR-370	CLIP-seq
MIRT1956175	hsa-miR-421	CLIP-seq
MIRT1956176	hsa-miR-4288	CLIP-seq
MIRT1956177	hsa-miR-4427	CLIP-seq
MIRT1956178	hsa-miR-4502	CLIP-seq
MIRT1956179	hsa-miR-4680-3p	CLIP-seq
MIRT1956180	hsa-miR-483-3p	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq
MIRT1956181	hsa-miR-632	CLIP-seq
MIRT2193830	hsa-miR-4476	CLIP-seq
MIRT2193831	hsa-miR-4786-3p	CLIP-seq
MIRT2193832	hsa-miR-671-5p	CLIP-seq
MIRT739627	hsa-miR-124	CLIP-seq
MIRT739626	hsa-miR-506	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	15485681, 16601229, 16908766
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	16601229, 16908766, 17881003
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	TAS	22123818
GO:0005515	Function	Protein binding	IPI	22123818, 32296183
GO:0005737	Component	Cytoplasm	IDA	22123818
GO:0006874	Process	Intracellular calcium ion homeostasis	IMP	16908766
GO:0006941	Process	Striated muscle contraction	TAS	9795116
GO:0010649	Process	Regulation of cell communication by electrical coupling	IMP	16908766
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IBA
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA	16601229
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IMP	16601229, 16908766
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	ISS
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0033018	Component	Sarcoplasmic reticulum lumen	IBA
GO:0033018	Component	Sarcoplasmic reticulum lumen	IC	16908766
GO:0033018	Component	Sarcoplasmic reticulum lumen	IEA
GO:0034704	Component	Calcium channel complex	TAS	19403607
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043267	Process	Negative regulation of potassium ion transport	ISS	21063088
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IDA	15485681
GO:0051208	Process	Sequestering of calcium ion	IDA	16601229
GO:0051258	Process	Protein polymerization	IDA	17881003, 22123818
GO:0051258	Process	Protein polymerization	IEA
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	16908766
GO:0060306	Process	Regulation of membrane repolarization	ISS	21063088
GO:0071313	Process	Cellular response to caffeine	IMP	16908766
GO:0086029	Process	Purkinje myocyte to ventricular cardiac muscle cell signaling	NAS	22198169
GO:0140314	Function	Calcium ion sequestering activity	IDA	21416293
GO:0140314	Function	Calcium ion sequestering activity	IMP	16908766
GO:1905024	Process	Regulation of membrane repolarization during ventricular cardiac muscle cell action potential	ISS	21063088

MIM	HGNC	e!Ensembl
114251	1513	ENSG00000118729

O14958

Protein name

Calsequestrin-2 (Calsequestrin, cardiac muscle isoform)

Protein function

Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between

PDB

2VAF , 6OWV , 6OWW , 7F05

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01216	Calsequestrin	2 → 382	Calsequestrin	Family

Sequence

MKRTHLFIVGIYFLSSCRAEEGLNFPTYDGKDRVVSLSEKNFKQVLKKYDLLCLYYHEPV
SSDKVTQKQFQLKEIVLELVAQVLEHKAIGFVMVDAKKEAKLAKKLGFDEEGSLYILKGD
RTIEFDGEFAADVLVEFLLDLIEDPVEIISSKLEVQAFERIEDYIKLIGFFKSEDSEYYK
AFEEAAEHFQPYIKFFATFDKGVAKKLSLKMNEVDFYEPFMDEPIAIPNKPYTEEELVEF
VKEHQRPTLRRLRPEEMFETWEDDLNGIHIVAFAEKSDPDGYEFLEILKQVARDNTDNPD
LSILWIDPDDFPLLVAYWEKTFKIDLFRPQIGVVNVTDADSVWMEIPDDDDLPTAEELED
WIEDVLSGKINTEDDDEDDDDDDNSDEEDNDDSDDDDDE

Sequence length

399

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Cardiac muscle contraction		Stimuli-sensing channels Ion homeostasis

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1647617368, rs758748280, rs746128346, rs1202663155, rs2464840483, rs1207800938, rs2526105965, rs139228801, rs2526031776, rs763955301, rs529562535, rs368728701, rs1060502164, rs1436844070, rs397507556, rs905985075, rs775663612 View all (2 more)	RCV002378353 RCV004601556 RCV002370607 RCV002346791 RCV002371415 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic; Pathogenic	rs876657635, rs905985075, rs397516643, rs754834466, rs749547712	RCV000222785 RCV004788035 RCV000037145 RCV001065165 RCV004773290	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic; Pathogenic	rs1647617368, rs1338756025, rs1654250819, rs758748280, rs767023791, rs746128346, rs1459829853, rs2464840483, rs2526105965, rs1553191909, rs139228801, rs786205791, rs786205799, rs753636068, rs2526031776 View all (32 more)	RCV003526161 RCV002549041 RCV002564387 RCV002550401 RCV002560503 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 2	Pathogenic; Likely pathogenic	rs1366771173, rs1647617368, rs1459829853, rs758748280, rs746128346, rs1202663155, rs139228801, rs786205791, rs786205799, rs753636068, rs763955301, rs876657635, rs2464893043, rs1342655330, rs2526031953 View all (13 more)	RCV001335768 RCV005002831 RCV001780719 RCV002482548 RCV003348689 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome	Likely pathogenic; Pathogenic	rs397507556	RCV003318336	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolff-Parkinson-White pattern	Likely pathogenic; Pathogenic	rs1553197939	RCV001796094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrhythmia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CASQ2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	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	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive familial heart block	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	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, CATECHOLAMINERGIC POLYMORPHIC, 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, POLYMORPHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	12386154, 21685173, 24444446, 26625541, 34338756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	24120998, 34338756	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30450052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20039900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34743414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	26230511, 37114354, 39940965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34743414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25892673		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22515980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic Polymorphic Ventricular Tachycardia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congestive heart failure	Congestive Heart Failure	BEFREE	19879546, 22198169, 23456435, 24444446, 26196381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24444446, 26196381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21685173, 24444446, 26196381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24444446, 26196381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	23171141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23171141, 24444446, 26196381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	20039900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial ventricular tachycardia	Ventricular tachycardia	CTD_human_DG	20513597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	22198169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24427266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	19879546, 22198169, 23456435, 24444446, 26196381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24444446, 26196381, 37349842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24444446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	19901961, 21412072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	19901961	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	19901961, 21412072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	35543671	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	21412072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22758909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	12386154, 22050625, 23595086, 26153920, 26625541, 27711080, 28158428, 28404607, 29178653, 31039485, 31482657, 32693635, 34557911, 39378715, 39826349	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	UNIPROT_DG	11704930, 15485681, 16908766, 17881003, 18399795, 27157848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	GENOMICS_ENGLAND_DG	16908766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	BEFREE	20302875, 26153920, 27711080, 28219898, 29452352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	CTD_human_DG	20513597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stress-induced polymorphic ventricular tachycardia	Stress-Induced Polymorphic Ventricular Tachycardia	CLINVAR_DG	27157848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	29178653, 31482657, 37114354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	LHGDN	11704930, 12386154, 12732448, 12858557, 16908766, 18543230, 18669926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CTD_human_DG	18052993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	23295832, 28336343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	20039900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34743414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	14715535, 22198169, 23295832, 23954267, 24444446, 26625541		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	11704930, 12386154, 12732448, 14571276, 14715535, 15176429, 15913575, 16601229, 16818210, 16908766, 17531962, 17578347, 18469084, 19027025, 19068246 View all (31 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CLINVAR_DG	12386154, 19398665, 21618644		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CTD_human_DG	20513597		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	14571276		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CASQ2 (calsequestrin 2)