GJA5 (gap junction protein alpha 5)

Gene

• Entrez ID: 2702
• Gene name: Gap junction protein alpha 5
• Gene symbol: GJA5
• Synonyms (NCBI Gene): ATFB11, CX40
• Chromosome: 1
• Chromosome location: 1q21.2
• Summary: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Muta

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028999	hsa-miR-26b-5p	Microarray	19088304
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT496949	hsa-miR-6760-5p	PAR-CLIP	22291592
MIRT496948	hsa-miR-889-5p	PAR-CLIP	22291592
MIRT496947	hsa-miR-6776-5p	PAR-CLIP	22291592
MIRT496946	hsa-miR-5589-5p	PAR-CLIP	22291592
MIRT496945	hsa-miR-3652	PAR-CLIP	22291592
MIRT496944	hsa-miR-4430	PAR-CLIP	22291592
MIRT496943	hsa-miR-4505	PAR-CLIP	22291592
MIRT496942	hsa-miR-5787	PAR-CLIP	22291592
MIRT496941	hsa-miR-6842-3p	PAR-CLIP	22291592
MIRT496940	hsa-miR-1262	PAR-CLIP	22291592
MIRT496939	hsa-miR-4701-3p	PAR-CLIP	22291592
MIRT496938	hsa-miR-6736-5p	PAR-CLIP	22291592
MIRT1019719	hsa-miR-1205	CLIP-seq
MIRT1019720	hsa-miR-1909	CLIP-seq
MIRT1019721	hsa-miR-28-5p	CLIP-seq
MIRT1019722	hsa-miR-3139	CLIP-seq
MIRT1019723	hsa-miR-3150b-3p	CLIP-seq
MIRT1019724	hsa-miR-3607-3p	CLIP-seq
MIRT1019725	hsa-miR-4434	CLIP-seq
MIRT1019726	hsa-miR-4516	CLIP-seq
MIRT1019727	hsa-miR-4781-3p	CLIP-seq
MIRT1019728	hsa-miR-4784	CLIP-seq
MIRT1019729	hsa-miR-4786-3p	CLIP-seq
MIRT1019730	hsa-miR-542-3p	CLIP-seq
MIRT1019731	hsa-miR-558	CLIP-seq
MIRT1019732	hsa-miR-708	CLIP-seq
MIRT1019733	hsa-miR-765	CLIP-seq
MIRT2001972	hsa-miR-4768-5p	CLIP-seq
MIRT2235014	hsa-miR-3127-5p	CLIP-seq
MIRT2235015	hsa-miR-4270	CLIP-seq
MIRT2235016	hsa-miR-4441	CLIP-seq
MIRT2450287	hsa-miR-2467-5p	CLIP-seq
MIRT2450288	hsa-miR-3188	CLIP-seq
MIRT2450289	hsa-miR-320a	CLIP-seq
MIRT2450290	hsa-miR-320b	CLIP-seq
MIRT2450291	hsa-miR-320c	CLIP-seq
MIRT2450292	hsa-miR-320d	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2450294	hsa-miR-3975	CLIP-seq
MIRT2450295	hsa-miR-4429	CLIP-seq
MIRT2450296	hsa-miR-4649-3p	CLIP-seq
MIRT2450297	hsa-miR-485-5p	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681576	hsa-miR-1202	CLIP-seq
MIRT2538857	hsa-miR-1252	CLIP-seq
MIRT2538858	hsa-miR-298	CLIP-seq
MIRT2681577	hsa-miR-3151	CLIP-seq
MIRT2538859	hsa-miR-3177-5p	CLIP-seq
MIRT2681578	hsa-miR-3183	CLIP-seq
MIRT2450293	hsa-miR-3910	CLIP-seq
MIRT2681579	hsa-miR-3972	CLIP-seq
MIRT2681580	hsa-miR-4257	CLIP-seq
MIRT2538860	hsa-miR-4438	CLIP-seq
MIRT2681581	hsa-miR-4684-3p	CLIP-seq
MIRT2681582	hsa-miR-4723-3p	CLIP-seq
MIRT2681583	hsa-miR-4733-5p	CLIP-seq
MIRT2681584	hsa-miR-4761-5p	CLIP-seq
MIRT2681585	hsa-miR-4776-3p	CLIP-seq
MIRT2681586	hsa-miR-486-3p	CLIP-seq
MIRT2681587	hsa-miR-499-3p	CLIP-seq
MIRT2681588	hsa-miR-499a-3p	CLIP-seq
MIRT2681589	hsa-miR-550b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TBX5	Activation	18451335

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001525	Process	Angiogenesis	IEP	11866539
GO:0001568	Process	Blood vessel development	IEA
GO:0003071	Process	Renal system process involved in regulation of systemic arterial blood pressure	IEA
GO:0003073	Process	Regulation of systemic arterial blood pressure	IEA
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0003151	Process	Outflow tract morphogenesis	IMP	22199024
GO:0003158	Process	Endothelium development	IEA
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003161	Process	Cardiac conduction system development	ISS
GO:0003174	Process	Mitral valve development	IMP	22199024
GO:0003193	Process	Pulmonary valve formation	IMP	22199024
GO:0003281	Process	Ventricular septum development	IMP	22199024
GO:0003283	Process	Atrial septum development	IMP	22199024
GO:0003284	Process	Septum primum development	IEA
GO:0003294	Process	Atrial ventricular junction remodeling	IEA
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005886	Component	Plasma membrane	IDA	22247482
GO:0005886	Component	Plasma membrane	IEA
GO:0005921	Component	Gap junction	IDA	23348765
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	22247482
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	ISS	15044680
GO:0006813	Process	Potassium ion transport	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0010643	Process	Cell communication by chemical coupling	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	IEA
GO:0010652	Process	Positive regulation of cell communication by chemical coupling	IEA
GO:0014704	Component	Intercalated disc	IDA	16790700
GO:0014704	Component	Intercalated disc	TAS	23348765
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IDA	22247482
GO:0016264	Process	Gap junction assembly	IMP	16790700, 23348765
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035922	Process	Foramen ovale closure	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS
GO:0055077	Function	Gap junction hemi-channel activity	IDA	23348765
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IMP	16790700, 22247482, 23348765
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	ISS
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	22247482, 23348765
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IEA
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071253	Function	Connexin binding	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IEA
GO:0086015	Process	SA node cell action potential	IEA
GO:0086020	Function	Gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling	NAS	15044680, 21357845
GO:0086021	Process	SA node cell to atrial cardiac muscle cell communication by electrical coupling	NAS	15044680, 21357845
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IBA
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IEA
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086044	Process	Atrial cardiac muscle cell to AV node cell communication by electrical coupling	NAS	15044680
GO:0086053	Process	AV node cell to bundle of His cell communication by electrical coupling	IEA
GO:0086053	Process	AV node cell to bundle of His cell communication by electrical coupling	IMP	22247482
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IEA
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP	22247482
GO:0086054	Process	Bundle of His cell to Purkinje myocyte communication by electrical coupling	ISS
GO:0086055	Process	Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling	NAS	15044680
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IDA	16790700, 23348765
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	IEA
GO:0086065	Process	Cell communication involved in cardiac conduction	IEA
GO:0086067	Process	AV node cell to bundle of His cell communication	IEA
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IDA	23348765
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	IMP	16790700
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IBA
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP	16790700, 20606116, 23348765
GO:0086076	Function	Gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	NAS	15044680
GO:0086077	Function	Gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IDA	22247482
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IEA
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IMP	22247482
GO:0086078	Function	Gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	ISS
GO:0086079	Function	Gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling	NAS	15044680
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098904	Process	Regulation of AV node cell action potential	IEA
GO:0098904	Process	Regulation of AV node cell action potential	IMP	22247482
GO:0098905	Process	Regulation of bundle of His cell action potential	IEA
GO:0098905	Process	Regulation of bundle of His cell action potential	IMP	22247482
GO:0098906	Process	Regulation of Purkinje myocyte action potential	IMP	22247482
GO:0098910	Process	Regulation of atrial cardiac muscle cell action potential	IMP	23348765
GO:1900133	Process	Regulation of renin secretion into blood stream	IEA
GO:1900825	Process	Regulation of membrane depolarization during cardiac muscle cell action potential	IEA
GO:1990029	Process	Vasomotion	IEA

Other IDs

• MIM: 121013
• HGNC: 4279
• e!Ensembl: ENSG00000265107

Protein

• UniProt ID: P36382
• Protein name: Gap junction alpha-5 protein (Connexin-40) (Cx40)
• Protein function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00029	Connexin	3 → 231	Connexin	Family
  PF16791	Connexin40_C	257 → 358	Connexin 40 C-terminal domain	Domain

• Sequence:

  MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPG
  CQNVCYDQAFPISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGS
  GSYEYPVAEKAELSCWEEGNGRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLT
  TLHVCRRSPCPHPVNCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIRQRFVK
  PRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFFNPFSNNMASQQNTDNLVTEQ
  VRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSKARSDDLSV

• Sequence length: 358

Pathways

Reactome:

Gap junction assembly

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
Atrial fibrillation, familial, 11	Pathogenic	rs2524612750, rs387906612, rs387906613, rs387906614, rs387906615	RCV002917391 RCV000022512 RCV000022513 RCV000022514 RCV000022515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial fibrillation, somatic	Pathogenic	rs121434558	RCV000018522	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial standstill 1	Pathogenic	rs2524612750	RCV002917391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Atrial fibrillation	Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL STANDSTILL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1q21.1 deletion syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1Q21.1 DELETION SYNDROME, 1.35-MB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrial fibrillation	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GJA5-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INTERSTITIAL LUNG DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ 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
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	16188595, 22247482, 26762269	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	23465095		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	22405441, 30809154		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	22405441, 30809154		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25871831	Associate	★☆☆☆☆ Found in Text Mining only
Atrial cardiomyopathy	Atrial cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15117819, 16790700, 16814413, 19535379, 20650941, 21076161, 21542828, 22423256, 23134779, 23292621, 23315605, 23348765, 24060583, 24144883, 24626989, 24656738, 24733048, 24825742, 24966059, 24973497, 25200600, 26503720, 26634538, 27813566, 28457700, 29201233, 29285063, 29351227, 29587382, 29930145, 31270966, 31346988		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	15657225, 16790700, 23134779, 24457199, 25200600, 26634538, 27813566, 29351227, 29915175, 30558760, 31270966	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	LHGDN	16646598, 16790700, 16814413		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	21542828	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	31270966	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	20650941		★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 11	Atrial Fibrillation	UNIPROT_DG	20650941		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 11	Atrial Fibrillation	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 11	Atrial Fibrillation	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial Standstill	Atrial standstill	Pubtator	16188595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL STANDSTILL 1	Atrial standstill	UNIPROT_DG	16790700		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28211524	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	7951328		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE	Atrial standstill	BEFREE	12522116, 15297374, 16188595		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE	Atrial standstill	HPO_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE	Atrial standstill	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26516624	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29104646		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10831124		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	27826129		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	22693452		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	26821948		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	15117819		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	22199024, 22713807		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26269457		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26269457		★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	16508580		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22199024, 22318994, 24021551	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29351227		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35205305	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary bundle branch system defect	Pubtator	22247482	Associate	★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	15923624		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16508580, 18276987, 24614215, 25992486, 29485979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	19109587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25992486		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	23542581		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35682601	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	7955125		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31803058		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1324944		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	32471989	Stimulate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22247482		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22247482	Associate	★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	BEFREE	29044760		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	38039294	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	15297374		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	33664309	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	29351227	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28870649		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	29201233		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17412882		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27194161, 28661424		★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	24825742		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	28211524	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28124622		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36833374	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	22199024, 22713807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	22199024, 24479926	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG	22713807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Torsades de Pointes	Torsades de pointes	Pubtator	33664309	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	22247482		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	16790700	Associate	★☆☆☆☆ Found in Text Mining only