HEY2 (hes related family bHLH transcription factor with YRPW motif 2)

Gene

• Entrez ID: 23493
• Gene name: Hes related family bHLH transcription factor with YRPW motif 2
• Gene symbol: HEY2
• Synonyms (NCBI Gene): CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019456	hsa-miR-148b-3p	Microarray	17612493
MIRT022041	hsa-miR-128-3p	Microarray	17612493
MIRT025160	hsa-miR-181a-5p	Microarray	17612493
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT736702	hsa-miR-599	Luciferase reporter assay, Western blotting, qRT-PCR	31565805
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT710110	hsa-miR-208a-5p	HITS-CLIP	19536157
MIRT710109	hsa-miR-208b-5p	HITS-CLIP	19536157
MIRT710108	hsa-miR-3121-5p	HITS-CLIP	19536157
MIRT710107	hsa-miR-376b-5p	HITS-CLIP	19536157
MIRT710106	hsa-miR-376c-5p	HITS-CLIP	19536157
MIRT710105	hsa-miR-3691-5p	HITS-CLIP	19536157
MIRT710104	hsa-miR-8056	HITS-CLIP	19536157
MIRT710103	hsa-miR-4326	HITS-CLIP	19536157
MIRT710102	hsa-miR-5701	HITS-CLIP	19536157
MIRT710101	hsa-miR-6833-5p	HITS-CLIP	19536157
MIRT710100	hsa-miR-4752	HITS-CLIP	19536157
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT445985	hsa-miR-1264	PAR-CLIP	22100165
MIRT445984	hsa-miR-6512-5p	PAR-CLIP	22100165
MIRT445983	hsa-miR-4635	PAR-CLIP	22100165
MIRT445982	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT445980	hsa-miR-4452	PAR-CLIP	22100165
MIRT445981	hsa-miR-6079	PAR-CLIP	22100165
MIRT1044805	hsa-miR-25	CLIP-seq
MIRT1044806	hsa-miR-32	CLIP-seq
MIRT1044807	hsa-miR-363	CLIP-seq
MIRT1044808	hsa-miR-367	CLIP-seq
MIRT1044809	hsa-miR-4696	CLIP-seq
MIRT1044810	hsa-miR-92a	CLIP-seq
MIRT1044811	hsa-miR-92b	CLIP-seq
MIRT2009769	hsa-miR-1294	CLIP-seq
MIRT2009770	hsa-miR-371-5p	CLIP-seq
MIRT2009771	hsa-miR-371b-5p	CLIP-seq
MIRT2009772	hsa-miR-3924	CLIP-seq
MIRT2009773	hsa-miR-3977	CLIP-seq
MIRT2009774	hsa-miR-4431	CLIP-seq
MIRT2009775	hsa-miR-4464	CLIP-seq
MIRT2009776	hsa-miR-4639-3p	CLIP-seq
MIRT2009777	hsa-miR-4711-3p	CLIP-seq
MIRT2009778	hsa-miR-4748	CLIP-seq
MIRT2009779	hsa-miR-502-5p	CLIP-seq
MIRT2009780	hsa-miR-592	CLIP-seq
MIRT2242111	hsa-miR-181a	CLIP-seq
MIRT2242112	hsa-miR-181b	CLIP-seq
MIRT2242113	hsa-miR-181c	CLIP-seq
MIRT2242114	hsa-miR-181d	CLIP-seq
MIRT2242115	hsa-miR-203	CLIP-seq
MIRT2242116	hsa-miR-3123	CLIP-seq
MIRT2242117	hsa-miR-3646	CLIP-seq
MIRT2242118	hsa-miR-376c	CLIP-seq
MIRT2009772	hsa-miR-3924	CLIP-seq
MIRT2242119	hsa-miR-3925-5p	CLIP-seq
MIRT2242120	hsa-miR-4262	CLIP-seq
MIRT2242121	hsa-miR-4522	CLIP-seq
MIRT2009776	hsa-miR-4639-3p	CLIP-seq
MIRT2242122	hsa-miR-4694-3p	CLIP-seq
MIRT2242123	hsa-miR-4714-5p	CLIP-seq
MIRT2242124	hsa-miR-4766-5p	CLIP-seq
MIRT2242125	hsa-miR-4802-5p	CLIP-seq
MIRT2242126	hsa-miR-515-5p	CLIP-seq
MIRT2242127	hsa-miR-539	CLIP-seq
MIRT2242128	hsa-miR-548aa	CLIP-seq
MIRT2242129	hsa-miR-765	CLIP-seq
MIRT2242130	hsa-miR-885-5p	CLIP-seq
MIRT2242131	hsa-miR-935	CLIP-seq
MIRT2242132	hsa-miR-936	CLIP-seq
MIRT2388944	hsa-miR-1205	CLIP-seq
MIRT2545753	hsa-miR-1276	CLIP-seq
MIRT2545754	hsa-miR-1470	CLIP-seq
MIRT2545755	hsa-miR-384	CLIP-seq
MIRT2009773	hsa-miR-3977	CLIP-seq
MIRT2545756	hsa-miR-4469	CLIP-seq
MIRT2545757	hsa-miR-4473	CLIP-seq
MIRT2545758	hsa-miR-4667-3p	CLIP-seq
MIRT2009779	hsa-miR-502-5p	CLIP-seq
MIRT2545759	hsa-miR-512-3p	CLIP-seq
MIRT2545760	hsa-miR-520f	CLIP-seq
MIRT2545761	hsa-miR-548c-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR2F2	Unknown	23345397

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10692439, 12535671, 16043483, 16293227, 21290414
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	11486045
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	21290414
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:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	10692439
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001568	Process	Blood vessel development	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0003150	Process	Muscular septum morphogenesis	IEA
GO:0003150	Process	Muscular septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003171	Process	Atrioventricular valve development	IEA
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	TAS	20951801
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003186	Process	Tricuspid valve morphogenesis	IEA
GO:0003186	Process	Tricuspid valve morphogenesis	ISS
GO:0003195	Process	Tricuspid valve formation	IEA
GO:0003198	Process	Epithelial to mesenchymal transition involved in endocardial cushion formation	TAS	20951801
GO:0003199	Process	Endocardial cushion to mesenchymal transition involved in heart valve formation	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003214	Process	Cardiac left ventricle morphogenesis	IEA
GO:0003214	Process	Cardiac left ventricle morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003300	Process	Cardiac muscle hypertrophy	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15485867
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	11486045, 12535671, 21454491, 23275563, 25416956, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
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:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	TAS	20951801
GO:0007389	Process	Pattern specification process	IEA
GO:0007507	Process	Heart development	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0010659	Process	Cardiac muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0014031	Process	Mesenchymal cell development	IEA
GO:0014031	Process	Mesenchymal cell development	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0017053	Component	Transcription repressor complex	IDA	11486045
GO:0035910	Process	Ascending aorta morphogenesis	IEA
GO:0035910	Process	Ascending aorta morphogenesis	ISS
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036304	Process	Umbilical cord morphogenesis	IEA
GO:0036304	Process	Umbilical cord morphogenesis	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	12535671
GO:0043565	Function	Sequence-specific DNA binding	IDA	11486045
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12535671, 15485867
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA
GO:0051145	Process	Smooth muscle cell differentiation	NAS	10692439
GO:0051151	Process	Negative regulation of smooth muscle cell differentiation	IEA
GO:0051151	Process	Negative regulation of smooth muscle cell differentiation	ISS
GO:0055015	Process	Ventricular cardiac muscle cell development	IEA
GO:0055015	Process	Ventricular cardiac muscle cell development	ISS
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	ISS
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0060633	Process	Negative regulation of transcription initiation by RNA polymerase II	IDA	10692439
GO:0060716	Process	Labyrinthine layer blood vessel development	IEA
GO:0060716	Process	Labyrinthine layer blood vessel development	ISS
GO:0060837	Process	Blood vessel endothelial cell differentiation	IEA
GO:0060840	Process	Artery development	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	IEA
GO:0060842	Process	Arterial endothelial cell differentiation	ISS
GO:0060948	Process	Cardiac vascular smooth muscle cell development	IEA
GO:0060977	Process	Coronary vasculature morphogenesis	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	ISS
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	IPI	10692439, 16293227
GO:0065004	Process	Protein-DNA complex assembly	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0072359	Process	Circulatory system development	IBA
GO:0072359	Process	Circulatory system development	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0097084	Process	Vascular associated smooth muscle cell development	IEP	15821257
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000723	Process	Negative regulation of cardiac vascular smooth muscle cell differentiation	IEA
GO:2000723	Process	Negative regulation of cardiac vascular smooth muscle cell differentiation	ISS
GO:2001212	Process	Regulation of vasculogenesis	IEA
GO:2001212	Process	Regulation of vasculogenesis	ISS

Other IDs

• MIM: 604674
• HGNC: 4881
• e!Ensembl: ENSG00000135547

Protein

• UniProt ID: Q9UBP5
• Protein name: Hairy/enhancer-of-split related with YRPW motif protein 2 (Cardiovascular helix-loop-helix factor 1) (hCHF1) (Class B basic helix-loop-helix protein 32) (bHLHb32) (HES-related repressor protein 2) (Hairy and enhancer of split-related protein 2) (HESR-2) (
• Protein function: Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptiona
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	49 → 104	Helix-loop-helix DNA-binding domain	Domain
  PF07527	Hairy_orange	123 → 162	Hairy Orange	Domain

• Sequence:

  MKRPCEETTSESDMDETIDVGSENNYSGQSTSSVIRLNSPTTTSQIMARKKRRGIIEKRR
  RDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMD
  FMSIGFRECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTCATQREAAAMTSSMAHHHHPL
  HPHHWAAAFHHLPAALLQPNGLHASESTPCRLSTTSEVPPAHGSALLTATFAHADSALRM
  PSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPPNAAAAVAAA
  TAISPPLSVSATSSPQQTSSGTNNKPYRPWGTEVGAF

• Sequence length: 337

Pathways

KEGG:

Notch signaling pathway
Human papillomavirus infection
Pathways in cancer
Breast cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
NOTCH4 Intracellular Domain Regulates Transcription

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL OBSTRUCTION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28397265, 31225825, 31789801, 31812137		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31444698		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25979380		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	3342039		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28856557		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16151017		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	24768363	Inhibit	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	22310065		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21454491		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24667784		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	22523272, 29422515		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21454491		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11400122		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38066300	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome	Brugada syndrome	Pubtator	24667784, 30193957	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	23872634, 24667784, 26729854, 30193957, 30910390		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	CTD_human_DG	23872634		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome 1	Brugada Syndrome	CTD_human_DG	23872634		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27191260	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac defects	Cardiac Defects	BEFREE	12372253, 25832314, 29422515		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	30125982		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28856557		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	3342039		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	12372254, 15389319, 25832314		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	20181399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	15389319, 20181399, 22523272		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22523272		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34675350	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	24178439		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	25575134	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25361534	Associate	★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23787764	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20838435	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25192910	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25832314		★☆☆☆☆ Found in Text Mining only
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30816197	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	BEFREE	22523272		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30897084, 35870951	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	11287026		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	20164556		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	20001863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	20001863		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22275240	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25734817	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27470556		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25832314		★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27191260, 31396342		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25361534	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11400122		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21454491		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	3342039		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28856557		★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18260125, 25361534, 27191260, 31225825, 31396342, 3342039		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30257372		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37512088	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	18069660		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	25575134		★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	11287026		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17560996		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21454491		★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	20164556		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25361534		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	12372254, 25832314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tricuspid Atresia	Tricuspid Atresia	BEFREE	15643620		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28351298	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	26808710	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	24608096		★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	39495146	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	26729854, 28085969		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	12372254, 16329098, 30955100, 31087142		★☆☆☆☆ Found in Text Mining only