NRG1 (neuregulin 1)

Gene

• Entrez ID: 3084
• Gene name: Neuregulin 1
• Gene symbol: NRG1
• Synonyms (NCBI Gene): ARIA, GGF, GGF2, HGL, HRG, HRG1, HRGA, MST131, MSTP131, NDF, NRG1-IT2, SMDF
• Chromosome: 8
• Chromosome location: 8p12
• Summary: The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene thr

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022506	hsa-miR-124-3p	Microarray	18668037
MIRT736520	hsa-miR-1207-5p	qRT-PCR	34288395
MIRT1193909	hsa-miR-409-3p	CLIP-seq
MIRT1193910	hsa-miR-1322	CLIP-seq
MIRT1193911	hsa-miR-421	CLIP-seq
MIRT1193912	hsa-miR-4272	CLIP-seq
MIRT1193913	hsa-miR-4310	CLIP-seq
MIRT1193914	hsa-miR-505	CLIP-seq
MIRT2056233	hsa-miR-4753-3p	CLIP-seq
MIRT2056234	hsa-miR-942	CLIP-seq
MIRT2686551	hsa-miR-1228	CLIP-seq
MIRT2686552	hsa-miR-1273c	CLIP-seq
MIRT2686553	hsa-miR-1827	CLIP-seq
MIRT2686554	hsa-miR-2053	CLIP-seq
MIRT2686555	hsa-miR-2117	CLIP-seq
MIRT2686556	hsa-miR-2467-3p	CLIP-seq
MIRT2686557	hsa-miR-2682	CLIP-seq
MIRT2686558	hsa-miR-302f	CLIP-seq
MIRT2686559	hsa-miR-3125	CLIP-seq
MIRT2686560	hsa-miR-3140-3p	CLIP-seq
MIRT2686561	hsa-miR-329	CLIP-seq
MIRT2686562	hsa-miR-362-3p	CLIP-seq
MIRT2686563	hsa-miR-3683	CLIP-seq
MIRT2686564	hsa-miR-374c	CLIP-seq
MIRT2686565	hsa-miR-377	CLIP-seq
MIRT2686566	hsa-miR-3916	CLIP-seq
MIRT1193909	hsa-miR-409-3p	CLIP-seq
MIRT2686567	hsa-miR-4273	CLIP-seq
MIRT2686568	hsa-miR-4330	CLIP-seq
MIRT2686569	hsa-miR-449c	CLIP-seq
MIRT2686570	hsa-miR-4514	CLIP-seq
MIRT2686571	hsa-miR-4666-3p	CLIP-seq
MIRT2686572	hsa-miR-4692	CLIP-seq
MIRT2686573	hsa-miR-569	CLIP-seq
MIRT2686574	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IDA	17336907
GO:0003712	Function	Transcription coregulator activity	IDA	15073182
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	7514177
GO:0005125	Function	Cytokine activity	TAS	10372964
GO:0005178	Function	Integrin binding	IDA	20682778
GO:0005515	Function	Protein binding	IPI	7592681, 28988771, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	1348215, 1350381, 8096067
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8702723, 19632177, 28822966
GO:0005615	Component	Extracellular space	IDA	11389077, 12646923
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007154	Process	Cell communication	TAS	17432114
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IDA	7514177
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	17432114
GO:0007420	Process	Brain development	IBA
GO:0007422	Process	Peripheral nervous system development	IBA
GO:0008083	Function	Growth factor activity	IDA	11389077
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	NAS	8096067
GO:0008270	Function	Zinc ion binding	IPI	25944317
GO:0008283	Process	Cell population proliferation	IDA	11389077
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20682778
GO:0010646	Process	Regulation of cell communication	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IDA	9553078
GO:0014032	Process	Neural crest cell development	TAS	17432114
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8096067
GO:0016151	Function	Nickel cation binding	IPI	25944317
GO:0016324	Component	Apical plasma membrane	IDA	12646923
GO:0023051	Process	Regulation of signaling	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	7556068, 8702723, 19632177
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IDA	9553078
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	NAS	1348215, 1350381
GO:0030307	Process	Positive regulation of cell growth	IDA	9553078
GO:0030879	Process	Mammary gland development	TAS	17432114
GO:0030971	Function	Receptor tyrosine kinase binding	NAS	1348215, 1350381
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	10559227
GO:0031334	Process	Positive regulation of protein-containing complex assembly	TAS	16412517
GO:0032148	Process	Activation of protein kinase B activity	IMP	20682778
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0038127	Process	ERBB signaling pathway	IDA	11389077
GO:0038127	Process	ERBB signaling pathway	IMP	20682778
GO:0038128	Process	ERBB2 signaling pathway	IDA	9553078
GO:0038129	Process	ERBB3 signaling pathway	IDA	27353365
GO:0038130	Process	ERBB4 signaling pathway	IBA
GO:0038130	Process	ERBB4 signaling pathway	IDA	15219672, 28822966
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	IBA
GO:0038133	Process	ERBB2-ERBB3 signaling pathway	IDA	8702723
GO:0038135	Process	ERBB2-ERBB4 signaling pathway	IDA	19632177
GO:0038138	Process	ERBB4-ERBB4 signaling pathway	IDA	8702723, 28822966
GO:0042060	Process	Wound healing	IDA	12646923
GO:0042060	Process	Wound healing	TAS	16412517
GO:0043125	Function	ErbB-3 class receptor binding	IDA	7556068, 20682778
GO:0043125	Function	ErbB-3 class receptor binding	IPI	11389077
GO:0045499	Function	Chemorepellent activity	IBA
GO:0045785	Process	Positive regulation of cell adhesion	IDA	7556068
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15073182
GO:0048018	Function	Receptor ligand activity	IDA	8702723, 19632177, 28822966
GO:0050919	Process	Negative chemotaxis	IEA
GO:0051048	Process	Negative regulation of secretion	IDA	10559227
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051155	Process	Positive regulation of striated muscle cell differentiation	ISS
GO:0055007	Process	Cardiac muscle cell differentiation	ISS
GO:0055012	Process	Ventricular cardiac muscle cell differentiation	IDA	9553078
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IDA	9553078
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IDA	17336907
GO:0060956	Process	Endocardial cell differentiation	IDA	17336907
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	20682778
GO:0098978	Component	Glutamatergic synapse	IDA	16221846
GO:0098978	Component	Glutamatergic synapse	IMP	16221846
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IDA	16221846
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IMP	16221846
GO:1900086	Process	Positive regulation of peptidyl-tyrosine autophosphorylation	IDA	15219672
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	9553078

Other IDs

• MIM: 142445
• HGNC: 7997
• e!Ensembl: ENSG00000157168

Protein

• UniProt ID: Q02297
• Protein name: Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory
• Protein function: Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse
• PDB: 1HAE, 1HAF, 1HRE, 1HRF, 3U7U, 7MN5, 7MN6, 7MN8, 7SJL, 8U4I, 8U4L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	37 → 129	Immunoglobulin I-set domain	Domain
  PF00008	EGF	182 → 220	EGF-like domain	Domain
  PF02158	Neuregulin	267 → 622	Neuregulin intracellular region	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Type I isoforms are the predominant forms expressed in the endocardium. Isoform alpha is expressed in breast, ovary, testis, prostate, heart, skeletal muscle, lung, placenta liver, kidney, salivary gland, small intestine and brain, but
• Sequence:

  MSERKEGRGKGKGKKKERGSGKKPESAAGSQSPALPPRLKEMKSQESAAGSKLVLRCETS
  SEYSSLRFKWFKNGNELNRKNKPQNIKIQKKPGKSELRINKASLADSGEYMCKVISKLGN
  DSASANITIVESNEIITGMPASTEGAYVSSESPIRISVSTEGANTSSSTSTSTTGTSHLV
  KCAEKEKTFCVNGGECFMVKDLSNPSRYLCKCQPGFTGARCTENVPMKVQNQEKAEELYQ
  KRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRSERNNMMNIANGPHHPN
  PPPENVQLVNQYVSKNVISSEHIVEREAETSFSTSHYTSTAHHSTTVTQTPSHSWSNGHT
  ESILSESHSVIVMSSVENSRHSSPTGGPRGRLNGTGGPRECNSFLRHARETPDSYRDSPH
  SERYVSAMTTPARMSPVDFHTPSSPKSPPSEMSPPVSSMTVSMPSMAVSPFMEEERPLLL
  VTPPRLREKKFDHHPQQFSSFHHNPAHDSNSLPASPLRIVEDEEYETTQEYEPAQEPVKK
  LANSRRAKRTKPNGHIANRLEVDSNTSSQSSNSESETEDERVGEDTPFLGIQNPLAASLE
  ATPAFRLADSRTNPAGRFSTQEEIQARLSSVIANQDPIAV

• Sequence length: 640

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
ErbB signaling pathway
Amyotrophic lateral sclerosis

Reactome:

Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
PIP3 activates AKT signaling
GRB7 events in ERBB2 signaling
Downregulation of ERBB2:ERBB3 signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants

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
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROPARESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NRG1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPILLARY THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia 6	Benign; Likely benign	ClinVar ClinVar, Disgenet, GenCC ClinVar, Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA, OBSTRUCTIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC NODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT ISCHEMIC ATTACK	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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	16432850		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	30021123		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	23104879, 27993643, 31607147		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24913807, 26837769, 27403614		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24469108, 25501131, 26134228, 26845116, 27626312, 28901268, 30069312, 31382039		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	28604730, 31326317		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24232507		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	22974608		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	22974608		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30938376, 31677615		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22739235, 32337953, 32690068, 37061663	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	28800329		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	16082692		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30249297		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22249457, 24229388, 24803543, 26891847, 29375317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplasia	Anaplasia	BEFREE	29740279, 30009176		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29935372		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27916686		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27916686		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17447867, 25533470		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18395550, 27801958, 30911372, 31624535, 31624536		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15812817	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17447867, 25533470		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30246788		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30415889	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22952857, 30415889	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25858800, 28089559, 30150060, 30415889		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17519028		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23625463		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	23625463	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	14623361, 14677079, 15939841, 16940976, 18234478, 18466881, 19127563, 19339916, 19367584, 19449332, 19765633, 19967439, 20374152, 20435087, 21688113, 21745728, 24767010, 24865593, 26534905, 27353026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	16940976, 18466881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19127563, 19449332, 20435087, 21232925, 22590542, 24865593, 27063557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23022220, 23273899, 24633675, 24767010, 24865593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	25944848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	23032943, 24767010		★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	29221474		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21364580		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	19367584, 20435087		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21876540	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31290093, 31583038		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	37423059	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10523851, 12866037, 14633660, 15141382, 15302578, 15466169, 16027731, 19802002, 24615340, 25492965, 25668816, 25691057, 26172396, 26885614, 28430337, 29715459, 29759984, 7529049, 8617201		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19617202		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19110721, 20625696, 23991224, 24112719, 25492965, 26885614, 30988082, 32618109, 32788048, 33413557, 33692466, 33839363, 36424660	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19802002, 22939885	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	30268483		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19367584, 20435087		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33839363, 35135829, 38219288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12800145, 20193695		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31944381	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	7992839	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21364580		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14739033, 24469108, 25501131, 25531467, 26837769, 28901268, 28950338, 29959202, 30069312		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30988082, 33858375	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	29265764		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29607874, 29742506		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26902151, 30936986		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	19733651		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	19733651	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20691195, 30021123, 31290093, 31560696, 31583038		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	BEFREE	29350067		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	17611496		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24232507		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28950338		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35986087	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	29069498, 31607147		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	20526724		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	LHGDN	16867224		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	31980658	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22183611, 25967537, 29559337		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32690068	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29616125		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30988082, 32852072, 35321516, 35748788, 36394757, 37164276	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	17676984		★☆☆☆☆ Found in Text Mining only
Congenital hypomyelinating neuropathy	Congenital Hypomyelinating Neuropathy	BEFREE	30535360		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	GWASCAT_DG	19196962, 25310821, 27702942		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	22974608		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	15685397, 19801490, 21631420, 23104879, 26844763, 27993643, 28235789, 28419467, 28780372, 28870731, 29069498, 29239338, 30134819, 30971932, 31607147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	19801490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	LHGDN	16155362		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31956140	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26588216		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	35922154	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	30989724		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	19935739		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	30931926		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	17449450, 19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	22590542	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28267150, 29310728, 31522857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	21745728, 37061663	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19733651	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	20472376		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29742506, 30927244, 31122981, 31195035		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29742506, 29760016, 30927244, 31122981, 31195035		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28870731		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29760016, 30557891, 30927244, 31122981		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	31956140	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	23894154		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	GWASCAT_DG	28703219		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	32710539	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31819021	Associate	★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	12685991		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22158511, 23633123		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28273943	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26071373		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	37164276	Associate	★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	22226049		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29945296		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	15015657		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	24563264		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	30988082	Associate	★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	CTD_human_DG	16357062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	18852951	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	35400204	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25560389		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31844032, 34054873	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25560389		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12600989		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15812817, 34054873, 34284546	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22753229, 25560389		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	19733651		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35461210	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31819021	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	15685397, 19801490, 21631420, 23104879, 26844763, 27993643, 28235789, 28419467, 28780372, 28870731, 29239338, 30134819, 30971932, 31607147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	19801490		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	23975515, 28235789	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	19801490		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37164276	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	19196962, 21283760, 21706185, 22377709, 22589734, 22974608, 23400839, 25310821, 25475805, 25666438, 27203398, 28256518, 28855726, 29377512, 30180823, 30502294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GWASDB_DG	19196962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GWASCAT_DG	19196962, 25310821, 27702942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	19196962, 21283760, 21712996, 22589734, 25310821, 25475805, 28256518, 29377512, 29379196, 30180823, 31767031, 34006365, 35443634, 36443333	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CTD_human_DG	22974608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	30003828, 30339273		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	25329069	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	33600668	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	22350758		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22183611, 25967537, 26913607, 27913953, 29559337, 29875654, 30343686, 30826297		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	26764183	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24563264		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20691195, 29856744, 31290093, 31560696		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25329069		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	19801490		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30486894		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27770508	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17627612, 26134228, 26837769, 28950338, 33839363, 35400204, 36086904	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	24469108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	28604730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27342578	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	19339916		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19367584, 21745728, 26888291, 29310728, 29628188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	25944848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	10523851, 12866037, 14633660, 15141382, 15302578, 15466169, 16027731, 19801490, 19802002, 23991224, 24177178, 24615340, 25492965, 25668816, 25691057, 26172396, 26885614, 27343990, 28430337, 28963699, 29059433, 29715459, 29759984, 8617201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19617202		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14739033, 24469108, 25501131, 25531467, 26134228, 26837769, 28656214, 28901268, 28950338, 29959202, 30069312		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	28604730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20227043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12800145, 14554243, 31164372		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25381017, 25583476, 28573357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25562676, 29901070		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21364580		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15481336, 17565985, 19659570, 24237343, 25381017, 26837769, 28472537, 28507002, 28974546, 29959202, 30069312, 30115691		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	15015657, 15897877, 23321323, 24232507, 26740486		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19617202		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12509456, 12800145, 15645137, 15703820, 17214955, 17602072		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12800145, 15466169, 16027731, 24177178		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19617202		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19617202		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	16319375, 17551090		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	7992839		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20515335		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	14632199		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19659570, 22249266, 26206558		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22249266, 26206558, 26269601, 34044811	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26206558	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17449450, 19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28267150, 29310728, 31522857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	20182055, 21232925, 24795156, 25744101, 25897834, 26888291, 27353026, 28198409		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	33828235	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	26891847		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	22226049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	24469108, 24913807, 26837769, 27626312, 28901268		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20625696	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25802071, 9707607		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	19801490		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21631420, 22968213, 23437060, 23958325, 27838293, 27993557, 27993643, 29239338, 30134819, 30936986, 30940307, 30971932		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	31956140	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31396490		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10597312, 15015657, 15897877, 16027731, 16636668, 19416853, 19622585, 19802002, 20193695, 24190252, 24232507, 25542901, 25562676, 26046304, 26134228, 26837769, 27626312, 28507002, 29636067, 29959202, 30115691, 30836676, 30927244, 31308059		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25106628, 31522857		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	16462207, 23354516		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24190252		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35008438	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24229388, 28623147, 29534847		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28727685		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	15015657		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	15897877, 23321323, 24232507		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	15897877		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29740279		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18455369		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29959202, 30568455, 31685488		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	31326317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	18714568		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	15939841, 16082692, 16730337, 17449450, 17503451, 18286587, 18466881, 18543275, 18571900, 19394386, 19594860, 20102668, 20182055, 23632455, 24123921, 24683514, 26650688, 28826413, 29864613		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29515030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	GWASCAT_DG	28054174		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37164276	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15466169		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30988082, 32243841	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12800145, 31164372		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12800145		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30988082, 31164372, 33755158, 35135829	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	37164276	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25562676, 27342578, 29121253, 29901070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	GWASCAT_DG	28703219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15584912		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31522857		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	30246788		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	29350067		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30931926, 30992451		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30150060		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	29095861		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28675393, 30456986		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29319907		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	21437657		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	15744031, 15939841, 16082692, 16730337, 17449450, 17503451, 18286587, 18466881, 18543275, 18571900, 19184335, 19394386, 19594860, 20102668, 20182055, 23032943, 23632455, 24123921, 24683514, 24795156, 26650688, 28826413, 29864613		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	17519028, 18286587	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28822966		★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	19367584		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	27731951, 27801958, 28576524, 30911372, 31624536		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	30988082, 34747541	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	16867224	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	22183611		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12145742, 12478479, 12573388, 12808428, 12874607, 12952866, 14569272, 14623361, 14966480, 15000348, 15007393, 15162166, 15197397, 15248869, 15276238, 15538186, 15545978, 15670788, 15704228, 15744031, 15939841, 16081509, 16082692, 16189508, 16219117, 16219118, 16249994, 16287046, 16319375, 16326006, 16361955, 16402353, 16442083, 16483744, 16520822, 16526041, 16603473, 16612196, 16618933, 16638076, 16640117, 16687441, 16730337, 16940976, 16958035, 17033632, 17072305, 17092693, 17152404, 17164265, 17185511, 17275115, 17300918, 17336946, 17349866, 17366345, 17408693, 17410640, 17440436, 17460065, 17485733, 17503451, 17519028, 17551090, 17565985, 17579610, 17631867, 17884806, 17901998, 17982252, 18032396, 18182443, 18186075, 18193072, 18234478, 18243664, 18282690, 18291420, 18455303, 18455369, 18466881, 18478032, 18520162, 18543275, 18571900, 18584117, 18606232, 18668031, 18704261, 18806920, 18985292, 18996920, 19046988, 19058791, 19118813, 19127563, 19143653, 19184335, 19336245, 19339916, 19350564, 19362450, 19367584, 19394386, 19439994, 19448847, 19449332, 19521112, 19545856, 19553869, 19575259, 19652122, 19765633, 19782967, 19913623, 19937977, 19965935, 19967439, 20036336, 20061032, 20182055, 20212127, 20218788, 20371257, 20433909, 20435087, 20497232, 20526724, 20638435, 20688137, 20713722, 20921115, 20926259, 20978455, 21035784, 21127983, 21232925, 21234898, 21295966, 21371516, 21512575, 21513767, 21637803, 21688113, 21745728, 21858616, 21876540, 21907759, 21993442, 22019858, 22183611, 22209534, 22253750, 22378022, 22467496, 22520967, 22689948, 22771711, 22777684, 22832403, 22832904, 23032943, 23301017, 23360725, 23389757, 23449491, 23489597, 23633123, 23719163, 24237343, 24299109, 24380930, 24622944, 24636039, 24683514, 24865593, 24935406, 25106628, 25142529, 25349163, 25579050, 25754081, 25858800, 25897834, 25967537, 26534905, 26888291, 26909665, 26960157, 27122041, 27236031, 27295274, 27353026, 27521758, 27613806, 27784625, 27916686, 28089851, 28094814, 28198409, 28322273, 28338897, 28384043, 28556469, 28577921, 28646138, 28675393, 28727685, 28743784, 28826413, 28839195, 28864885, 28981869, 28993723, 29163244, 29225331, 29326614, 29559020, 29559337, 29628188, 29750976, 29844389, 30150060, 30415889, 30500411, 30738251, 31233824, 31284014, 31499092, 31522857, 31649580, 31812959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12145742, 12478479, 12808428, 14729827, 15007393, 15162166, 15197397, 15219675, 15303101, 15545978, 16249994, 16287046, 16326006, 16442083, 16520822, 16526041, 16618933, 16687441, 16730337, 16767099, 16940976, 17033632, 17072305, 17336946, 17405926, 17565985, 17631867, 17884806, 17901998, 18159252, 18286587, 18455303, 18455369, 18466881, 18470533, 18516516, 18571900, 18704261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	12145742, 17333138, 17460065, 17905522, 20561508, 20582876, 20701826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17410640, 17519028, 18159252, 18243664, 19118813, 19127563, 19350564, 19449332, 19521112, 19965935, 20435087, 20497232, 20625696, 20713722, 21232925, 21498463, 21745728, 21876540, 22590542, 22952857, 24237343, 24683514, 24865593, 30415889, 30738251, 32690068	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	22440650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	25944848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, Childhood	Schizophrenia	BEFREE	17033632		★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28582279		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30989579		★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	19394386		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	25325441	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	34446064	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	25325441, 31677615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	24803543		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31144617		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28723928	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28723928, 31308059		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25381017, 25583476		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25583476	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	25735919		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23659773, 25562676, 27342578, 29121253, 29901070, 33551988	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	GWASCAT_DG	22267200, 28195142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	GWASDB_DG	22267200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25562676, 29901070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25562676, 29901070		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	22267200, 24591304, 25562676, 27512836, 28703219, 29901070, 33903625	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	33600668	Inhibit	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	28273943	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	25944848		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26888291, 29310728, 29628188		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21364580, 30988082	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31728810		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30936986		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	30074619		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	30074619		★☆☆☆☆ Found in Text Mining only