TRPM4 (transient receptor potential cation channel subfamily M member 4)

Gene

• Entrez ID: 54795
• Gene name: Transient receptor potential cation channel subfamily M member 4
• Gene symbol: TRPM4
• Synonyms (NCBI Gene): EKVP6, LTrpC4, PFHB1B, TRPM4B, hTRPM4
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs71352737	G>A	Benign, likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs140799936	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs141531245	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, synonymous variant, intron variant
rs144781529	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, intron variant
rs145501662	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, intron variant
rs148763371	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs148855956	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, stop gained, intron variant
rs172151858	A>G	Pathogenic	Missense variant, coding sequence variant
rs200038418	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs200132598	G>A	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs267607142	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs387907216	C>T	Pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant
rs1278993777	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1369949906	T>C	Pathogenic	Missense variant, coding sequence variant
rs1425995839	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017409	hsa-miR-335-5p	Microarray	18185580
MIRT023660	hsa-miR-1-3p	Microarray	18668037
MIRT1457324	hsa-miR-3616-5p	CLIP-seq
MIRT1457325	hsa-miR-3647-5p	CLIP-seq
MIRT1457326	hsa-miR-4279	CLIP-seq
MIRT1457327	hsa-miR-4488	CLIP-seq
MIRT1457328	hsa-miR-4635	CLIP-seq
MIRT1457329	hsa-miR-4697-5p	CLIP-seq
MIRT1457330	hsa-miR-573	CLIP-seq
MIRT2137137	hsa-miR-3184	CLIP-seq
MIRT2137138	hsa-miR-339-5p	CLIP-seq
MIRT2137139	hsa-miR-423-5p	CLIP-seq
MIRT2137140	hsa-miR-4281	CLIP-seq
MIRT2357945	hsa-miR-3136-3p	CLIP-seq
MIRT2357946	hsa-miR-3677-5p	CLIP-seq
MIRT2357947	hsa-miR-4645-3p	CLIP-seq
MIRT2357948	hsa-miR-663b	CLIP-seq
MIRT2137137	hsa-miR-3184	CLIP-seq
MIRT2137139	hsa-miR-423-5p	CLIP-seq
MIRT2137140	hsa-miR-4281	CLIP-seq
MIRT2396385	hsa-miR-4481	CLIP-seq
MIRT2396386	hsa-miR-4710	CLIP-seq
MIRT2396387	hsa-miR-4745-5p	CLIP-seq
MIRT2396388	hsa-miR-4758-5p	CLIP-seq
MIRT2396389	hsa-miR-4792	CLIP-seq
MIRT2651473	hsa-miR-1915	CLIP-seq
MIRT2651474	hsa-miR-3199	CLIP-seq
MIRT2651475	hsa-miR-4505	CLIP-seq
MIRT2651476	hsa-miR-4515	CLIP-seq
MIRT2651477	hsa-miR-4726-3p	CLIP-seq
MIRT2651478	hsa-miR-640	CLIP-seq
MIRT2651473	hsa-miR-1915	CLIP-seq
MIRT2651474	hsa-miR-3199	CLIP-seq
MIRT2651475	hsa-miR-4505	CLIP-seq
MIRT2651476	hsa-miR-4515	CLIP-seq
MIRT2651477	hsa-miR-4726-3p	CLIP-seq
MIRT2651478	hsa-miR-640	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002407	Process	Dendritic cell chemotaxis	IEA
GO:0002407	Process	Dendritic cell chemotaxis	ISS
GO:0002724	Process	Regulation of T cell cytokine production	IDA	20656926
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005227	Function	Calcium-activated cation channel activity	IBA
GO:0005227	Function	Calcium-activated cation channel activity	IDA	27207958, 29211723
GO:0005227	Function	Calcium-activated cation channel activity	IEA
GO:0005227	Function	Calcium-activated cation channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	29217581
GO:0005515	Function	Protein binding	IPI	31837246
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IDA	19945433
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	19945433
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19945433, 29211723
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	20625999
GO:0010460	Process	Positive regulation of heart rate	ISS
GO:0016020	Component	Membrane	IDA	29217581
GO:0016020	Component	Membrane	IEA
GO:0016925	Process	Protein sumoylation	IDA	19726882
GO:0019722	Process	Calcium-mediated signaling	IDA	27207958
GO:0030001	Process	Metal ion transport	IBA
GO:0030502	Process	Negative regulation of bone mineralization	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034706	Component	Sodium channel complex	IDA	27207958
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0042802	Function	Identical protein binding	IPI	29211723, 29217581
GO:0043025	Component	Neuronal cell body	ISS
GO:0045600	Process	Positive regulation of fat cell differentiation	ISS
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045907	Process	Positive regulation of vasoconstriction	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29211723, 29217581
GO:0051289	Process	Protein homotetramerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071318	Process	Cellular response to ATP	IEA
GO:0086045	Process	Membrane depolarization during AV node cell action potential	IMP	27207958
GO:0086047	Process	Membrane depolarization during Purkinje myocyte cell action potential	IMP	27207958
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	27207958
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	27207958
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20625999
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	29211723
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	27207958
GO:0098911	Process	Regulation of ventricular cardiac muscle cell action potential	IMP	27207958
GO:1903949	Process	Positive regulation of atrial cardiac muscle cell action potential	ISS
GO:1904179	Process	Positive regulation of adipose tissue development	ISS
GO:1904199	Process	Positive regulation of regulation of vascular associated smooth muscle cell membrane depolarization	ISS

Other IDs

• MIM: 606936
• HGNC: 17993
• e!Ensembl: ENSG00000130529

Protein

• UniProt ID: Q8TD43
• Protein name: Transient receptor potential cation channel subfamily M member 4 (hTRPM4) (Calcium-activated non-selective cation channel 1) (Long transient receptor potential channel 4) (LTrpC-4) (LTrpC4) (Melastatin-4)
• Protein function: Calcium-activated selective cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:12842017, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:120
• PDB: 5WP6, 6BQR, 6BQV, 6BWI, 8RCR, 8RCU, 8RD9, 9B8W, 9B8X, 9B8Y, 9B8Z, 9B90, 9B91, 9B92, 9B93, 9B94
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18139	LSDAT_euk	88 → 355	SLOG in TRPM	Family
  PF00520	Ion_trans	786 → 1055	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher level
• Sequence:

  MVVPEKEQSWIPKIFKKKTCTTFIVDSTDPGGTLCQCGRPRTAHPAVAMEDAFGAAVVTV
  WDSDAHTTEKPTDAYGELDFTGAGRKHSNFLRLSDRTDPAAVYSLVTRTWGFRAPNLVVS
  VLGGSGGPVLQTWLQDLLRRGLVRAAQSTGAWIVTGGLHTGIGRHVGVAVRDHQMASTGG
  TKVVAMGVAPWGVVRNRDTLINPKGSFPARYRWRGDPEDGVQFPLDYNYSAFFLVDDGTH
  GCLGGENRFRLRLESYISQQKTGVGGTGIDIPVLLLLIDGDEKMLTRIENATQAQLPCLL
  VAGSGGAADCLAETLEDTLAPGSGGARQGEARDRIRRFFPKGDLEVLQAQVERIMTRKEL
  LTVYSSEDGSEEFETIVLKALVKACGSSEASAYLDELRLAVAWNRVDIAQSELFRGDIQW
  RSFHLEASLMDALLNDRPEFVRLLISHGLSLGHFLTPMRLAQLYSAAPSNSLIRNLLDQA
  SHSAGTKAPALKGGAAELRPPDVGHVLRMLLGKMCAPRYPSGGAWDPHPGQGFGESMYLL
  SDKATSPLSLDAGLGQAPWSDLLLWALLLNRAQMAMYFWEMGSNAVSSALGACLLLRVMA
  RLEPDAEEAARRKDLAFKFEGMGVDLFGECYRSSEVRAARLLLRRCPLWGDATCLQLAMQ
  ADARAFFAQDGVQSLLTQKWWGDMASTTPIWALVLAFFCPPLIYTRLITFRKSEEEPTRE
  ELEFDMDSVINGEGPVGTADPAEKTPLGVPRQSGRPGCCGGRCGGRRCLRRWFHFWGAPV
  TIFMGNVVSYLLFLLLFSRVLLVDFQPAPPGSLELLLYFWAFTLLCEELRQGLSGGGGSL
  ASGGPGPGHASLSQRLRLYLADSWNQCDLVALTCFLLGVGCRLTPGLYHLGRTVLCIDFM
  VFTVRLLHIFTVNKQLGPKIVIVSKMMKDVFFFLFFLGVWLVAYGVATEGLLRPRDSDFP
  SILRRVFYRPYLQIFGQIPQEDMDVALMEHSNCSSEPGFWAHPPGAQAGTCVSQYANWLV
  VLLLVIFLLVANILLVNLLIAMFSYTFGKVQGNSDLYWKAQRYRLIREFHSRPALAPPFI
  VISHLRLLLRQLCRRPRSPQPSSPALEHFRVYLSKEAERKLLTWESVHKENFLLARARDK
  RESDSERLKRTSQKVDLALKQLGHIREYEQRLKVLEREVQQCSRVLGWVAEALSRSALLP
  PGGPPPPDLPGSKD

• Sequence length: 1214

Pathways

KEGG:

Insulin secretion

Reactome:

TRP channels

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	Likely pathogenic; Pathogenic	rs2122839457	RCV003303498	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrokeratodermia variabilis et progressiva 6	Likely pathogenic; Pathogenic	rs1369949906, rs1278993777	RCV000808167 RCV000808168	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive familial heart block type IB	Likely pathogenic; Pathogenic	rs2122839457, rs267607142, rs172151858, rs1369949906	RCV001950888 RCV000003968 RCV000029162 RCV001386316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRPM4-related disorder	Likely pathogenic	rs267607142	RCV004532279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR BLOCK	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiac arrest	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	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)
Conduction system disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Family history of sudden cardiac death	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BUNDLE BRANCH SYSTEM DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive familial heart block	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restrictive cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sudden cardiac death	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sudden unexplained death	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	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
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	28315637	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	35500522, 38467355	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	33922380	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	27207958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	Pubtator	27207958, 33959666, 35205305, 36352534	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	39546944	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30980865		★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	30484364, 35474489, 39189437	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	30484364, 34309670, 37037835	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32484822	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	23382873, 27207958, 36352534, 38100498	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome	Brugada Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	21887725, 23293604, 23382873, 24226423, 24721656, 25531103, 28494446		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	23382873, 27207958, 28494446		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	23382873		★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	23382873	Associate	★☆☆☆☆ Found in Text Mining only
Bundle-Branch Block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	33594499	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30391667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28750076	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29217581		★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	39227362	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30147301, 30980865, 30997597, 31288831, 31707576		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31441200		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31441200		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31441200, 35500522	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36147460	Inhibit	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17382525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30482841		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26636822	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24380477		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28248435		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34936030, 36231119	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	30528822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	ORPHANET_DG	30528822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial progressive cardiac conduction defect	Progressive Cardiac Conduction Defect	Orphanet			★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27834303	Associate	★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	28898995, 29165759, 30021168, 30598284		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26636822, 27207958, 31441200, 32037394, 32529721, 35205305, 38100498, 39546944	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29568272		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17382525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	33594499	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	33594499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Valve Diseases	Heart valve disease	Pubtator	40194969	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary Bundle Branch System Defect	BEFREE	19726880, 19726882, 26820365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary bundle branch system defect	Hereditary Bundle Branch System Defect	ORPHANET_DG	19726882, 20562447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary bundle branch system defect	Hereditary bundle branch system defect	Pubtator	19726882, 38100498	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30484364		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	33594499	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	32037394	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	31441200, 35500522	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24114458		★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	30484364, 34309670	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left anterior fascicular block	Left anterior fascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28224334		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	28315637, 33466149, 36010573, 36352534	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lymphedema	Lymphedema	Pubtator	27207958	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24885513, 26496025, 28614631, 29579323, 30708257, 30980865, 31441200		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26496025, 29568272, 29996905, 30980865, 31441200		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23796873, 28865458, 30980865		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29914130		★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	26636822	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31441200		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30484364		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive Familial Heart Block, Type Ib	Heart block	GENOMICS_ENGLAND_DG	16301704, 27761167, 30021168		★☆☆☆☆ Found in Text Mining only
Progressive Familial Heart Block, Type Ib	Heart block	UNIPROT_DG	19726882, 20562447, 21887725		★☆☆☆☆ Found in Text Mining only
Progressive Familial Heart Block, Type Ib	Heart block	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive Familial Heart Block, Type Ib	Heart block	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Progressive symmetric erythrokeratodermia	Progressive Symmetric Erythrokeratodermia	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24885513, 26496025, 28614631, 29579323, 30708257, 30980865, 31441200		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26496025	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	26496025		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26496025, 26590985	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28614631, 31441200, 33058873	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Failure	Respiratory Failure	BEFREE	30789900		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	BEFREE	23382873		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	39227362	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22933633		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28412320		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	24114458, 31288831, 31707576		★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy syndrome	Pubtator	28315637	Associate	★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29568272, 31316392		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)