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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57057
Gene name	T-box transcription factor 20
Gene symbol	TBX20
Synonyms (NCBI Gene)	ASD4
Chromosome	7
Chromosome location	7p14.2
Summary	This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development.

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852954	G>A,C,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant, 5 prime UTR variant
rs137852955	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs267607106	G>C	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1554284604	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT508673	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508678	hsa-miR-5700	HITS-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	HITS-CLIP	21572407
MIRT707848	hsa-miR-3613-3p	HITS-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508674	hsa-miR-448	HITS-CLIP	21572407
MIRT508678	hsa-miR-5700	HITS-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	HITS-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508674	hsa-miR-448	HITS-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508674	hsa-miR-448	PAR-CLIP	20371350
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508678	hsa-miR-5700	PAR-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508674	hsa-miR-448	PAR-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508678	hsa-miR-5700	PAR-CLIP	23446348
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520782	hsa-miR-943	PAR-CLIP	23446348
MIRT508674	hsa-miR-448	PAR-CLIP	23446348
MIRT508678	hsa-miR-5700	PAR-CLIP	23446348
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508674	hsa-miR-448	PAR-CLIP	23446348
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT453715	hsa-miR-302f	PAR-CLIP	23592263
MIRT453714	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT453713	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT453712	hsa-miR-940	PAR-CLIP	23592263
MIRT453711	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT453710	hsa-miR-665	PAR-CLIP	23592263
MIRT453709	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT453708	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT453707	hsa-miR-1827	PAR-CLIP	23592263
MIRT453706	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT453705	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT453704	hsa-miR-1273e	PAR-CLIP	23592263
MIRT453705	hsa-miR-139-3p	PAR-CLIP	27292025
MIRT453711	hsa-miR-4768-3p	PAR-CLIP	27292025
MIRT453710	hsa-miR-665	PAR-CLIP	27292025
MIRT453709	hsa-miR-6840-3p	PAR-CLIP	27292025
MIRT508673	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508678	hsa-miR-5700	HITS-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	HITS-CLIP	21572407
MIRT707848	hsa-miR-3613-3p	HITS-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508674	hsa-miR-448	HITS-CLIP	21572407
MIRT508678	hsa-miR-5700	HITS-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	HITS-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT508674	hsa-miR-448	HITS-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	20371350
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT508674	hsa-miR-448	PAR-CLIP	20371350
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508678	hsa-miR-5700	PAR-CLIP	21572407
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	21572407
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT508674	hsa-miR-448	PAR-CLIP	21572407
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508678	hsa-miR-5700	PAR-CLIP	23446348
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520782	hsa-miR-943	PAR-CLIP	23446348
MIRT508674	hsa-miR-448	PAR-CLIP	23446348
MIRT508678	hsa-miR-5700	PAR-CLIP	23446348
MIRT508677	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508676	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT508675	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT508674	hsa-miR-448	PAR-CLIP	23446348
MIRT508673	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT453715	hsa-miR-302f	PAR-CLIP	23592263
MIRT453714	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT453713	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT453712	hsa-miR-940	PAR-CLIP	23592263
MIRT453711	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT453710	hsa-miR-665	PAR-CLIP	23592263
MIRT453709	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT453708	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT453707	hsa-miR-1827	PAR-CLIP	23592263
MIRT453706	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT453705	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT453704	hsa-miR-1273e	PAR-CLIP	23592263

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	19762328
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	19762328
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001706	Process	Endoderm formation	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001947	Process	Heart looping	IBA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003143	Process	Embryonic heart tube morphogenesis	IEA
GO:0003143	Process	Embryonic heart tube morphogenesis	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IMP	18275040, 18834961
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003171	Process	Atrioventricular valve development	IEA
GO:0003171	Process	Atrioventricular valve development	ISS
GO:0003175	Process	Tricuspid valve development	IEA
GO:0003175	Process	Tricuspid valve development	ISS
GO:0003176	Process	Aortic valve development	IEA
GO:0003179	Process	Heart valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	IMP	18275040, 18834961
GO:0003193	Process	Pulmonary valve formation	IEA
GO:0003193	Process	Pulmonary valve formation	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003207	Process	Cardiac chamber formation	IEA
GO:0003207	Process	Cardiac chamber formation	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0003279	Process	Cardiac septum development	IEA
GO:0003279	Process	Cardiac septum development	ISS
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006936	Process	Muscle contraction	IEA
GO:0008015	Process	Blood circulation	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IEA
GO:0014031	Process	Mesenchymal cell development	IEA
GO:0014031	Process	Mesenchymal cell development	ISS
GO:0021524	Process	Visceral motor neuron differentiation	IEA
GO:0021524	Process	Visceral motor neuron differentiation	ISS
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035922	Process	Foramen ovale closure	IMP	19762328
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0036302	Process	Atrioventricular canal development	ISS
GO:0036306	Process	Embryonic heart tube elongation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048370	Process	Lateral mesoderm formation	ISS
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IEA
GO:0060413	Process	Atrial septum morphogenesis	IMP	17668378, 18834961, 19762328
GO:0060577	Process	Pulmonary vein morphogenesis	IMP	18834961
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0090068	Process	Positive regulation of cell cycle process	IEA
GO:0097475	Process	Motor neuron migration	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
606061	11598	ENSG00000164532

Q9UMR3

Protein name

T-box transcription factor TBX20 (T-box protein 20)

Protein function

Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	102 → 288	T-box	Domain

Sequence

MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTS
LDAHGEFGGGSGSSPSSSSLCTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEM
IITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRYRYAYHRSSWLVAGKADPPLP
ARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESV
ESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQ
HPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPR
YHHYFQQGPYAAIQGLRHSSAVMTPFV

Sequence length

447

Interactions

View interactions

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic valve disease 1	Likely pathogenic; Pathogenic	rs766692577	RCV000770948	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect 4	Pathogenic; Likely pathogenic	rs137852955, rs267607106, rs2546994664, rs766692577	RCV000004896 RCV000004897 RCV003986018 RCV002272337	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2128714664, rs1562567739, rs2546996539, rs2546997554, rs1790276091, rs2546997545, rs2546993178	RCV002370657 RCV002331636 RCV002373129 RCV002385405 RCV002421958 RCV003177147 RCV005288984 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplastic left heart syndrome	Pathogenic	rs1554284604	RCV000656080	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoplastic right heart syndrome	Pathogenic	rs1554284604	RCV000656081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolff-Parkinson-White pattern	Pathogenic	rs1554284604	RCV000656082	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC FATIGUE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSENTERY	—	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
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left ventricular noncompaction	Uncertain significance	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT HYPOPLASTIC HEART SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBX20-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30820038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	30820038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	38479330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24247152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24247152		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defect 4	Atrial Septal Defect	UNIPROT_DG	17668378, 19762328		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 4	Atrial Septal Defect	GENOMICS_ENGLAND_DG	17668378, 19762328		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 4	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial Septal Defect 4	Atrial Septal Defect	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial septal defect, ostium secundum type	Atrial Septal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	18834961, 19762328, 25183037, 25834824, 27510170		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	30820038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	30820038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	BEFREE	10936053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35348274	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27738327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17668378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	17668378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17668378, 28690296, 38479330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	26895318, 28945738		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26118961, 26895318, 27510170, 28690296, 28945738, 30536204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30820038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30820038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34302946, 35348274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17668378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	18834961, 19762328, 27034249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	17668378, 18275040, 18834961, 19074289, 22080862, 25183037, 25487630, 25834824, 27323105, 27510170, 28525297, 28945738, 29545372, 29903739		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	29394407		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	17668378, 18834961, 19762328, 22465533, 25487630, 25625280, 27034249, 27510170, 28553164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	25625280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	34204335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	36831251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	17668378, 25183037, 27034249, 27323105, 28553164, 35281600, 36831251, 36963213, 38479330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	17668378, 19074289, 22080862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	17668378, 25929466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	29394407		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	38479330	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	29394407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Congenital heart septal defect	Pubtator	36831251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	25183037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	40760458	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	36963213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	27642787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	29394407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	28049825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 6	Microphthalmia	Pubtator	17668378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	29394407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24650916		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ostium secundum atrial septal defect	Secundum atrial septal defect	ORPHANET_DG	19762328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10936053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right hypoplastic heart syndrome	Hypoplastic Heart Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	27738327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	18275040, 18834961, 22672592, 28553164, 30084275, 31138201		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	28553164, 30084275, 31138201	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Total anomalous pulmonary venous return	Pulmonary Venous Return Anomaly	BEFREE	18834961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	18275040, 22465533, 25834824		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TBX20 (T-box transcription factor 20)