TRDN (triadin)

Gene

• Entrez ID: 10345
• Gene name: Triadin
• Gene symbol: TRDN
• Synonyms (NCBI Gene): CARDAR, CPVT5, TDN, TRISK
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanod

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200243235	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs202219343	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs377115913	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs397515458	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs578024729	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs747836980	A>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs750469686	TCTT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs778198100	->CT	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs781420323	TT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060502114	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1085307100	->T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1298986609	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1381728472	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1468290898	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554251609	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562358749	GGCATGAAATGGGAGCCAGTAGGCTGGGAGCAAGGTGAGAGGAAGGTTTTCACAAAGTATCTTTATGTGTTGAGCAATTAGAACTTATTATCTATTCTACATAAATAAATAACAATTAGAAATTAAAGCAATCTAATAGATAATCAAAATATGCAAGTTATAATAATGAGATCTACTTTCTTACCTATCAAACTGACAAGTATTTCTGATATAATATCCTCACTGCTGGCTAAGGCAGTCTCAAAACTGCCAGAG	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1582923790	CT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017167	hsa-miR-335-5p	Microarray	18185580
MIRT019248	hsa-miR-148b-3p	Microarray	17612493
MIRT721427	hsa-miR-501-3p	HITS-CLIP	19536157
MIRT721426	hsa-miR-502-3p	HITS-CLIP	19536157
MIRT721425	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT721424	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721423	hsa-miR-7703	HITS-CLIP	19536157
MIRT721422	hsa-miR-491-3p	HITS-CLIP	19536157
MIRT713104	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT713103	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT713102	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT713101	hsa-miR-3974	HITS-CLIP	19536157
MIRT713100	hsa-miR-4761-5p	HITS-CLIP	19536157
MIRT713099	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713098	hsa-miR-498	HITS-CLIP	19536157
MIRT713097	hsa-miR-1305	HITS-CLIP	19536157
MIRT713096	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT721427	hsa-miR-501-3p	HITS-CLIP	19536157
MIRT721426	hsa-miR-502-3p	HITS-CLIP	19536157
MIRT721425	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT721424	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721423	hsa-miR-7703	HITS-CLIP	19536157
MIRT721422	hsa-miR-491-3p	HITS-CLIP	19536157
MIRT713104	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT713103	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT713102	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT713101	hsa-miR-3974	HITS-CLIP	19536157
MIRT713100	hsa-miR-4761-5p	HITS-CLIP	19536157
MIRT713099	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT713098	hsa-miR-498	HITS-CLIP	19536157
MIRT713097	hsa-miR-1305	HITS-CLIP	19536157
MIRT713096	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT1452394	hsa-miR-331-5p	CLIP-seq
MIRT1452395	hsa-miR-3682-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT1452398	hsa-miR-548l	CLIP-seq
MIRT1452399	hsa-miR-548n	CLIP-seq
MIRT2135445	hsa-miR-4422	CLIP-seq
MIRT2356583	hsa-miR-125a-3p	CLIP-seq
MIRT1452394	hsa-miR-331-5p	CLIP-seq
MIRT2356584	hsa-miR-338-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT2356585	hsa-miR-4282	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2356586	hsa-miR-4726-3p	CLIP-seq
MIRT2356587	hsa-miR-5096	CLIP-seq
MIRT2650140	hsa-miR-132	CLIP-seq
MIRT2650141	hsa-miR-212	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2650142	hsa-miR-616	CLIP-seq
MIRT2694106	hsa-miR-1256	CLIP-seq
MIRT2694107	hsa-miR-1279	CLIP-seq
MIRT2650140	hsa-miR-132	CLIP-seq
MIRT2650141	hsa-miR-212	CLIP-seq
MIRT1452395	hsa-miR-3682-5p	CLIP-seq
MIRT1452396	hsa-miR-4272	CLIP-seq
MIRT1452397	hsa-miR-4678	CLIP-seq
MIRT2694108	hsa-miR-4776-3p	CLIP-seq
MIRT1452398	hsa-miR-548l	CLIP-seq
MIRT1452399	hsa-miR-548n	CLIP-seq
MIRT2650142	hsa-miR-616	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	17526652, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006936	Process	Muscle contraction	TAS	7588753
GO:0009617	Process	Response to bacterium	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	TAS	19567751
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	TAS	19567751
GO:0010881	Process	Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	17569730
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	IBA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	ISS
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	17569730
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IBA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA
GO:0014808	Process	Release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7588753
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0030314	Component	Junctional membrane complex	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS	11504710
GO:0033018	Component	Sarcoplasmic reticulum lumen	TAS	17569730
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0051282	Process	Regulation of sequestering of calcium ion	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060047	Process	Heart contraction	IBA
GO:0060047	Process	Heart contraction	IEA
GO:0060047	Process	Heart contraction	IMP	22422768
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	IBA
GO:0086036	Process	Regulation of cardiac muscle cell membrane potential	ISS
GO:0090158	Process	Endoplasmic reticulum membrane organization	ISS
GO:1901846	Process	Positive regulation of cell communication by electrical coupling involved in cardiac conduction	ISS

Other IDs

• MIM: 603283
• HGNC: 12261
• e!Ensembl: ENSG00000186439

Protein

• UniProt ID: Q13061
• Protein name: Triadin
• Protein function: Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05279	Asp-B-Hydro_N	42 → 269	Aspartyl beta-hydroxylase N-terminal region	Family

• Sequence:

  MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTFSSPAAWLLVIALIITW
  SAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEE
  DDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQTKVTHKEKEKGKEKVREKEKP
  EKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV
  QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQAS
  RPTPASPALEEKEGEKKKAEKKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQ
  GTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKKEKHVEPAKSPKKEHSVPSDK
  QVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE
  EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQI
  HKQDIVKPEKTVSHGKPEEKVLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPT
  PKGTSEVTESGKKKTEISEKESKEKADMKHLREEKVSTRKESLQLHNVTKAEKPARVSKD
  VEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN
  SPGQKQQGQ

• Sequence length: 729

Pathways

KEGG:

Calcium signaling pathway
Cardiac muscle contraction

Reactome:

Stimuli-sensing channels
Ion homeostasis

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
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs774068079, rs1198103383, rs762402822, rs2534346909, rs2534485636, rs2534485518, rs1209337990, rs1350873943, rs752256846, rs768049331, rs397515458, rs545032318	RCV002432068 RCV002344065 RCV002347569 RCV002346790 RCV002440041 RCV002444194 RCV002435645 RCV004523897 RCV004023546 RCV002345363 RCV002354248 RCV004031109	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia	Likely pathogenic; Pathogenic	rs757805966, rs397515458	RCV004017830 RCV004017360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic; Pathogenic	rs1432170970, rs757805966, rs774068079, rs2114339116, rs2114436209, rs1198103383, rs2114537918, rs2534346909, rs1209337990, rs2534401993, rs2534900959, rs1085307100, rs2534485312, rs1778806259, rs1780193710, rs2534478800, rs2534485266, rs2534347019, rs1060502114, rs1060502116, rs752256846, rs1554258777, rs1554251609, rs1468290898, rs768049331, rs397515458, rs545032318, rs1290195833	RCV002551565 RCV003104072 RCV002499793 RCV002555321 RCV002507817 RCV002560543 RCV002564390 RCV003638842 RCV003102962 RCV002846754 RCV002904857 RCV002515600 RCV005099935 RCV003527069 RCV003527145 RCV003526420 RCV003639808 RCV003840004 RCV002526417 RCV003103778 RCV003525916 RCV002526109 RCV002529887 RCV002532870 RCV002513732 RCV003103726 RCV002551449 RCV003638740	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Catecholaminergic polymorphic ventricular tachycardia 5	Likely pathogenic; Pathogenic	rs1432170970, rs774068079, rs753514580, rs2114436209, rs1198103383, rs1779402696, rs1085307100, rs1781162727, rs2533571418, rs2534485312, rs1780193710, rs1060502116, rs752256846, rs768049331, rs397515458, rs397515459, rs545032318, rs1290195833	RCV002504650 RCV001580169 RCV001783906 RCV002507817 RCV005031911 RCV002287856 RCV000490366 RCV003132939 RCV003132940 RCV005036789 RCV005036877 RCV001580171 RCV003985018 RCV000056259 RCV000056260 RCV000056261 RCV001580170 RCV001169890	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRDN-related disorder	Likely pathogenic; Pathogenic	rs753694760, rs2534485312	RCV003419147 RCV003392838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC FOOT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME	—	CTD, ClinGen, ClinVar, Disgenet CTD, ClinGen, ClinVar, Disgenet CTD, ClinGen, ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	37163978	Associate	★☆☆☆☆ Found in Text Mining only
Bradycardia	Bradycardia	Pubtator	40760564	Associate	★☆☆☆☆ Found in Text Mining only
Catecholaminergic polymorphic ventricular tachycardia	Catecholaminergic Polymorphic Ventricular Tachycardia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	28202702		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26196381		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36175575	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28672053		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14674716		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28672053		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic Foot	GWASCAT_DG	28672053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	14674716		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	26196381	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary and idiopathic neuropathy, unspecified	Hereditary and idiopathic neuropathy	GWASCAT_DG	28672053		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	36175575	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	36175575	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	25922419		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT Syndrome	Long qt syndrome	Pubtator	37163978	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	17204937		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	28202702	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36175575	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	GWASCAT_DG	28672053		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2	Neuropathy	GWASCAT_DG	28672053		★☆☆☆☆ Found in Text Mining only
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3	Neuropathy	GWASCAT_DG	28672053		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36175575	Associate	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	34557911, 40760564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	27041150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	40760564	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	23396608, 31437535		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	31440271		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	22422768, 26200674, 29178653, 31607542		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CLINVAR_DG	22422768, 25922419, 26200674		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	ORPHANET_DG	22422768		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG	26200674		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS	Ventricular tachycardia, with or without muscle weakness	UNIPROT_DG	22422768		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS	Ventricular tachycardia, with or without muscle weakness	CLINVAR_DG	22422768		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS	Ventricular tachycardia, with or without muscle weakness	GENOMICS_ENGLAND_DG	26200674, 28202702		★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS	Ventricular tachycardia, with or without muscle weakness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only