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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9464
Gene name	Heart and neural crest derivatives expressed 2
Gene symbol	HAND2
Synonyms (NCBI Gene)	DHAND2HedThing2bHLHa26dHand
Chromosome	4
Chromosome location	4q34.1
Summary	The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular cha

Show/Hide all (77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001843	hsa-miR-1-3p	qRT-PCR	21169019
MIRT001843	hsa-miR-1-3p	Reporter assay;Other	15951802
MIRT438482	hsa-miR-25-3p	Luciferase reporter assay	24161931
MIRT438482	hsa-miR-25-3p	Luciferase reporter assay	24161931
MIRT488649	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT488648	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488647	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488645	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488646	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488644	hsa-miR-4468	PAR-CLIP	23592263
MIRT488643	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT488642	hsa-miR-6081	PAR-CLIP	23592263
MIRT488641	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488640	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488639	hsa-miR-3175	PAR-CLIP	23592263
MIRT488638	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488637	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488636	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488635	hsa-miR-5698	PAR-CLIP	23592263
MIRT488634	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488633	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488632	hsa-miR-4443	PAR-CLIP	23592263
MIRT488631	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT488630	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT488649	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT488648	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT488647	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT488645	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT488646	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT488644	hsa-miR-4468	PAR-CLIP	23592263
MIRT488643	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT488642	hsa-miR-6081	PAR-CLIP	23592263
MIRT488641	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT488640	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT488639	hsa-miR-3175	PAR-CLIP	23592263
MIRT488638	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT488637	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT488636	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT488635	hsa-miR-5698	PAR-CLIP	23592263
MIRT488634	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT488633	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT488632	hsa-miR-4443	PAR-CLIP	23592263
MIRT488631	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT488630	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT1040589	hsa-miR-1	CLIP-seq
MIRT1040590	hsa-miR-1299	CLIP-seq
MIRT1040591	hsa-miR-206	CLIP-seq
MIRT1040592	hsa-miR-3126-3p	CLIP-seq
MIRT1040593	hsa-miR-3140-3p	CLIP-seq
MIRT1040594	hsa-miR-3179	CLIP-seq
MIRT1040595	hsa-miR-3202	CLIP-seq
MIRT1040596	hsa-miR-3673	CLIP-seq
MIRT1040597	hsa-miR-3688-3p	CLIP-seq
MIRT1040598	hsa-miR-3936	CLIP-seq
MIRT1040599	hsa-miR-4533	CLIP-seq
MIRT1040600	hsa-miR-4659a-3p	CLIP-seq
MIRT1040601	hsa-miR-4659b-3p	CLIP-seq
MIRT1040602	hsa-miR-613	CLIP-seq
MIRT1040603	hsa-miR-875-3p	CLIP-seq
MIRT2008501	hsa-miR-138	CLIP-seq
MIRT1040592	hsa-miR-3126-3p	CLIP-seq
MIRT2008502	hsa-miR-3618	CLIP-seq
MIRT2008503	hsa-miR-4672	CLIP-seq
MIRT2008504	hsa-miR-566	CLIP-seq
MIRT2008505	hsa-miR-934	CLIP-seq
MIRT2544464	hsa-miR-1291	CLIP-seq
MIRT2544465	hsa-miR-146b-3p	CLIP-seq
MIRT2544466	hsa-miR-191	CLIP-seq
MIRT2544467	hsa-miR-203	CLIP-seq
MIRT2544468	hsa-miR-369-3p	CLIP-seq
MIRT2544469	hsa-miR-374a	CLIP-seq
MIRT2544470	hsa-miR-374b	CLIP-seq
MIRT2544471	hsa-miR-4321	CLIP-seq
MIRT2544472	hsa-miR-544	CLIP-seq
MIRT2544473	hsa-miR-548a-3p	CLIP-seq
MIRT2544474	hsa-miR-548e	CLIP-seq
MIRT2544475	hsa-miR-548f	CLIP-seq

Show/Hide all (95)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598, 24161931
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	16280598
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001223	Function	Transcription coactivator binding	IEA
GO:0001223	Function	Transcription coactivator binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	15486975
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001967	Process	Suckling behavior	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003219	Process	Cardiac right ventricle formation	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	ISS
GO:0003278	Process	Apoptotic process involved in heart morphogenesis	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	NAS	16280598
GO:0003677	Function	DNA binding	IEA
GO:0003680	Function	Minor groove of adenine-thymine-rich DNA binding	IDA	15486975
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	15486975, 25416956, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	NAS	15486975
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IEP	9878849
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IDA	24161931
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IGI	24161931
GO:0010628	Process	Positive regulation of gene expression	IMP	24161931
GO:0010629	Process	Negative regulation of gene expression	IMP	24161931
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032991	Component	Protein-containing complex	IDA	15486975
GO:0034103	Process	Regulation of tissue remodeling	IDA	24161931
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043586	Process	Tongue development	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15486975, 16280598, 24161931
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:0048485	Process	Sympathetic nervous system development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048538	Process	Thymus development	ISS
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060485	Process	Mesenchyme development	IEA
GO:0060536	Process	Cartilage morphogenesis	IEA
GO:0060982	Process	Coronary artery morphogenesis	IEA
GO:0061032	Process	Visceral serous pericardium development	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	ISS
GO:0061325	Process	Cell proliferation involved in outflow tract morphogenesis	IEA
GO:0061371	Process	Determination of heart left/right asymmetry	IEA
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:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24161931
GO:0070888	Function	E-box binding	IDA	15486975
GO:0070888	Function	E-box binding	IEA
GO:0070888	Function	E-box binding	ISS
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	IMP	24161931
GO:1903929	Process	Primary palate development	IEA
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001262	Process	Positive regulation of semaphorin-plexin signaling pathway	IEA
GO:2001262	Process	Positive regulation of semaphorin-plexin signaling pathway	ISS

MIM	HGNC	e!Ensembl
602407	4808	ENSG00000164107

P61296

Protein name

Heart- and neural crest derivatives-expressed protein 2 (Class A basic helix-loop-helix protein 26) (bHLHa26) (Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2) (dHAND)

Protein function

Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries. Required for vascular development and regulation of angiogenesis, possibly through a VEGF signaling pathway. Also plays a

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	100 → 152	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Heart.

Sequence

MSLVGGFPHHPVVHHEGYPFAAAAAAAAAAAASRCSHEENPYFHGWLIGHPEMSPPDYSM
ALSYSPEYASGAAGLDHSHYGGVPPGAGPPGLGGPRPVKRRGTANRKERRRTQSINSAFA
ELRECIPNVPADTKLSKIKTLRLATSYIAYLMDLLAKDDQNGEAEAFKAEIKKTDVKEEK
RKKELNEILKSTVSSNDKKTKGRTGWPQHVWALELKQ

Sequence length

217

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dilated cardiomyopathy 1A	Pathogenic	rs1553974835	RCV000656722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAND2-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	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

Show/Hide Text Mining Associations (87)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	11485030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21528670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	18816645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33549125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28416822, 28460022		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	28538179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29423132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	23405946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28350845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32239802	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28194035, 32311840, 33566427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	39519394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32239802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	10189962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	11549340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36882677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30217752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	16228229, 18207244, 23405946, 27411570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	21431856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29381923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31760170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29381923, 33858496, 35870943, 36443682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23449628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	20155416, 23449628		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	9671575		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Congenital Heart Disease	BEFREE	10189962, 20819618, 21462297, 25093829, 26676105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	12775564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24161931		★★★★★ ★★☆☆☆ 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 Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28469241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28469241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	28469241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20819618, 26676105, 31322241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28469241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	19223930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	29107108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27411570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24265601, 31779688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	29241443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31779688, 31902687, 32555395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30270745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	30217752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Defects Congenital	Congenital heart defect	Pubtator	22302627, 25093829, 26865696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23342164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24161931		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	29394407		★★★★★ ★★☆☆☆ 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 Ventricular	Congenital heart septal defect	Pubtator	26865696, 38030295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24210200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	24702986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36882677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	27411570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated hypoplasia of the right ventricle	Isolated right ventricular hypoplasia	BEFREE	10189962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	31248315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	29394407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	25248475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12731087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30250565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24265601, 31779688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29241443, 31423160, 31788122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29381923		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31423160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	29394407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21612405, 29107108, 29669134, 31248124, 31788122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	CTD_human_DG	30127528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	36130928, 36243768, 36416237, 36598365	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodontia	Oligodontia	BEFREE	24702986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33468183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32975291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32517089, 34476500	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	28416822, 29892015, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	BEFREE	23449628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	15735646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21528670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35392086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	25093829		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	25093829	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	26676105		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30318850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31788122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21431856, 31509714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28351298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HAND2 (heart and neural crest derivatives expressed 2)