CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1)

Gene

• Entrez ID: 781
• Gene name: Calcium voltage-gated channel auxiliary subunit alpha2delta 1
• Gene symbol: CACNA2D1
• Synonyms (NCBI Gene): CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3
• Chromosome: 7
• Chromosome location: 7q21.11
• Summary: The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarizat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs191213592	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1554338713	ATTGTCTCTTCTAGTT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001474	hsa-miR-16-5p	pSILAC	18668040
MIRT023627	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT001474	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT717867	hsa-miR-6814-5p	HITS-CLIP	19536157
MIRT717866	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT713924	hsa-miR-4731-3p	HITS-CLIP	19536157
MIRT713923	hsa-miR-4801	HITS-CLIP	19536157
MIRT713922	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT713921	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT713920	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT713919	hsa-miR-4642	HITS-CLIP	19536157
MIRT1954730	hsa-miR-409-3p	CLIP-seq
MIRT2192293	hsa-miR-1182	CLIP-seq
MIRT2192294	hsa-miR-1207-5p	CLIP-seq
MIRT2192295	hsa-miR-1271	CLIP-seq
MIRT2192296	hsa-miR-182	CLIP-seq
MIRT2192297	hsa-miR-2052	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2192299	hsa-miR-4307	CLIP-seq
MIRT2192300	hsa-miR-4653-3p	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192303	hsa-miR-4736	CLIP-seq
MIRT2192304	hsa-miR-4763-3p	CLIP-seq
MIRT2192305	hsa-miR-516b	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2192307	hsa-miR-96	CLIP-seq
MIRT2192298	hsa-miR-3620	CLIP-seq
MIRT2436035	hsa-miR-4266	CLIP-seq
MIRT2436036	hsa-miR-4294	CLIP-seq
MIRT2192301	hsa-miR-4676-5p	CLIP-seq
MIRT2192302	hsa-miR-4732-3p	CLIP-seq
MIRT2192306	hsa-miR-575	CLIP-seq
MIRT2495656	hsa-miR-3591-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11160515, 17224476
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	1309651
GO:0005245	Function	Voltage-gated calcium channel activity	IGI	21883149
GO:0005262	Function	Calcium channel activity	IEA
GO:0005886	Component	Plasma membrane	IDA	35293990
GO:0005886	Component	Plasma membrane	IEA
GO:0005891	Component	Voltage-gated calcium channel complex	IDA	11160515, 17224476
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	1309651, 11160515
GO:0006816	Process	Calcium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030315	Component	T-tubule	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051924	Process	Regulation of calcium ion transport	IDA	1309651
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	25527503
GO:0060402	Process	Calcium ion transport into cytosol	ISS	25527503
GO:0061577	Process	Calcium ion transmembrane transport via high voltage-gated calcium channel	ISS	25527503
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	25527503
GO:0086007	Function	Voltage-gated calcium channel activity involved in cardiac muscle cell action potential	IC	17224476
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	21383000
GO:0086057	Function	Voltage-gated calcium channel activity involved in bundle of His cell action potential	IMP	21383000
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	25527503
GO:0098703	Process	Calcium ion import across plasma membrane	ISS
GO:0098903	Process	Regulation of membrane repolarization during action potential	ISS	25527503
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA
GO:1902514	Process	Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IGI	21883149
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:1990454	Component	L-type voltage-gated calcium channel complex	IBA
GO:1990454	Component	L-type voltage-gated calcium channel complex	IDA	1309651

Other IDs

• MIM: 114204
• HGNC: 1399
• e!Ensembl: ENSG00000153956

Protein

• UniProt ID: P54289
• Protein name: Voltage-dependent calcium channel subunit alpha-2/delta-1 (Voltage-gated calcium channel subunit alpha-2/delta-1) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-1; Voltage-dependent calcium channel subunit delta-1]
• Protein function: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By simil
• PDB: 7MIX, 7MIY, 7UHF, 7UHG, 7VFS, 7VFU, 7VFV, 7VFW, 7XLQ, 7YG5, 8E59, 8E5A, 8E5B, 8EPL, 8EPM, 8FHS, 8HLP, 8HMA, 8HMB, 8IF3, 8IF4, 8WE6, 8WE7, 8WE8, 8WE9, 8WEA, 8X90, 8X91, 8X93
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08399	VWA_N	104 → 223	VWA N-terminal	Family
  PF00092	VWA	253 → 425	von Willebrand factor type A domain	Domain
  PF08473	VGCC_alpha2	644 → 1072	Neuronal voltage-dependent calcium channel alpha 2acd	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta. {E
• Sequence:

  MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDI
  YEKYQDLYTVEPNNARQLVEIAARDIEKLLSNRSKALVRLALEAEKVQAAHQWREDFASN
  EVVYYNAKDDLDPEKNDSEPGSQRIKPVFIEDANFGRQISYQHAAVHIPTDIYEGSTIVL
  NELNWTSALDEVFKKNREEDPSLLWQVFGSATGLARYYPASPWVDNSRTPNKIDLYDVRR
  RPWYIQGAASPKDMLILVDVSGSVSGLTLKLIRTSVSEMLETLSDDDFVNVASFNSNAQD
  VSCFQHLVQANVRNKKVLKDAVNNITAKGITDYKKGFSFAFEQLLNYNVSRANCNKIIML
  FTDGGEERAQEIFNKYNKDKKVRVFTFSVGQHNYDRGPIQWMACENKGYYYEIPSIGAIR
  INTQEYLDVLGRPMVLAGDKAKQVQWTNVYLDALELGLVITGTLPVFNITGQFENKTNLK
  NQLILGVMGVDVSLEDIKRLTPRFTLCPNGYYFAIDPNGYVLLHPNLQPKPIGVGIPTIN
  LRKRRPNIQNPKSQEPVTLDFLDAELENDIKVEIRNKMIDGESGEKTFRTLVKSQDERYI
  DKGNRTYTWTPVNGTDYSLALVLPTYSFYYIKAKLEETITQARYSETLKPDNFEESGYTF
  IAPRDYCNDLKISDNNTEFLLNFNEFIDRKTPNNPSCNADLINRVLLDAGFTNELVQNYW
  SKQKNIKGVKARFVVTDGGITRVYPKEAGENWQENPETYEDSFYKRSLDNDNYVFTAPYF
  NKSGPGAYESGIMVSKAVEIYIQGKLLKPAVVGIKIDVNSWIENFTKTSIRDPCAGPVCD
  CKRNSDVMDCVILDDGGFLLMANHDDYTNQIGRFFGEIDPSLMRHLVNISVYAFNKSYDY
  QSVCEPGAAPKQGAGHRSAYVPSVADILQIGWWATAAAWSILQQFLLSLTFPRLLEAVEM
  EDDDFTASLSKQSCITEQTQYFFDNDSKSFSGVLDCGNCSRIFHGEKLMNTNLIFIMVES
  KGTCPCDTRLLIQAEQTSDGPNPCDMVKQPRYRKGPDVCFDNNVLEDYTDCGGVSGLNPS
  LWYIIGIQFLLLWLVSGSTHRLL

• Sequence length: 1103

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
Developmental and epileptic encephalopathy 110	Pathogenic	rs2486042652, rs1389529434, rs780854867	RCV002464992 RCV002464993 RCV002464994	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada syndrome 1	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CACNA2D1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac arrest	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SHORT QT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ 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
INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	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 OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal atrial fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	20817017		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	39354346	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25074461	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	24937803		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	24882193	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Brugada Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brugada Syndrome (disorder)	Brugada Syndrome	GENOMICS_ENGLAND_DG	16301704		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	LHGDN	17224476		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	ORPHANET_DG	17224476, 20817017		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CLINGEN_DG	19429829, 20817017, 24309898, 25527503		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	20817017		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CLINGEN_DG	19429829, 20817017, 24309898, 25527503		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26420065	Associate	★☆☆☆☆ Found in Text Mining only
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	Cardiac conduction disease	CLINGEN_DG	19429829, 20817017, 24309898, 25527503		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	37679988	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36231119	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25074461, 28913875, 29789371		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25074461	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	29789371	Associate	★☆☆☆☆ Found in Text Mining only
Familial short QT syndrome	Short QT Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29176626		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29176626		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	39354346	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22949532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	25074461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25074461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31725046	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26420065		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	26845276, 29317602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	8707301	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18588891		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30464601, 31725046		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25074461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal ventricular tachycardia	Paroxysmal ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25074461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short Qt Syndrome	Short QT Syndrome	BEFREE	21383000		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Short QT Syndrome 1	Short QT Syndrome	ORPHANET_DG	21383000		★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Short qt syndrome	Pubtator	21383000	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CLINGEN_DG	19429829, 20817017, 24309898, 25527503		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31725046	Associate	★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trifascicular block	Trifascicular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	26845276		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	GWASCAT_DG	31626034		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	21383000	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	22825893		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	25877686		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	8707301		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	8707301	Associate	★☆☆☆☆ Found in Text Mining only