EPHB1 (EPH receptor B1)

Gene

• Entrez ID: 2047
• Gene name: EPH receptor B1
• Gene symbol: EPHB1
• Synonyms (NCBI Gene): ELK, EPHT2, Hek6, NET
• Chromosome: 3
• Chromosome location: 3q22.2
• Summary: Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438671	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438671	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438671	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT438671	hsa-miR-128-3p	Luciferase reporter assay, qRT-PCR, Western blot	23835497
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT658587	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT658586	hsa-miR-1248	HITS-CLIP	23824327
MIRT658585	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT658584	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT658583	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT658582	hsa-miR-4279	HITS-CLIP	23824327
MIRT658581	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT658580	hsa-miR-578	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT638750	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT658587	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT658586	hsa-miR-1248	HITS-CLIP	23824327
MIRT658585	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT658584	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT658583	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT658582	hsa-miR-4279	HITS-CLIP	23824327
MIRT658581	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT658580	hsa-miR-578	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT638750	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT624017	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT624016	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT624015	hsa-miR-5696	HITS-CLIP	23824327
MIRT624014	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT624013	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT624012	hsa-miR-548aw	HITS-CLIP	23824327
MIRT624011	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT624010	hsa-miR-527	HITS-CLIP	23824327
MIRT966665	hsa-miR-1273g	CLIP-seq
MIRT966666	hsa-miR-1914	CLIP-seq
MIRT966667	hsa-miR-3074-5p	CLIP-seq
MIRT966668	hsa-miR-3120-5p	CLIP-seq
MIRT966669	hsa-miR-3147	CLIP-seq
MIRT966670	hsa-miR-4418	CLIP-seq
MIRT966671	hsa-miR-4421	CLIP-seq
MIRT966672	hsa-miR-4427	CLIP-seq
MIRT966673	hsa-miR-4659a-3p	CLIP-seq
MIRT966674	hsa-miR-4659b-3p	CLIP-seq
MIRT966675	hsa-miR-4680-3p	CLIP-seq
MIRT966676	hsa-miR-509-3-5p	CLIP-seq
MIRT966677	hsa-miR-509-5p	CLIP-seq
MIRT1986309	hsa-miR-526b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IDA	9499402
GO:0001771	Process	Immunological synapse formation	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005003	Function	Ephrin receptor activity	IEA
GO:0005005	Function	Transmembrane-ephrin receptor activity	IBA
GO:0005005	Function	Transmembrane-ephrin receptor activity	IDA	18034775
GO:0005515	Function	Protein binding	IPI	8798570, 9499402, 12223469, 12925710, 18034775
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18034775
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0008046	Function	Axon guidance receptor activity	IEA
GO:0014719	Process	Skeletal muscle satellite cell activation	IEA
GO:0014719	Process	Skeletal muscle satellite cell activation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021545	Process	Cranial nerve development	IEA
GO:0021631	Process	Optic nerve morphogenesis	IEA
GO:0021934	Process	Hindbrain tangential cell migration	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	ISS
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0031290	Process	Retinal ganglion cell axon guidance	ISS
GO:0031589	Process	Cell-substrate adhesion	IDA	9430661
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0031901	Component	Early endosome membrane	IDA	18034775
GO:0031901	Component	Early endosome membrane	IEA
GO:0032433	Component	Filopodium tip	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0046328	Process	Regulation of JNK cascade	IDA	9430661
GO:0046777	Process	Protein autophosphorylation	IDA	18034775
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IDA	12925710, 18034775
GO:0048013	Process	Ephrin receptor signaling pathway	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048731	Process	System development	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	ISS
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0060326	Process	Cell chemotaxis	IDA	12925710
GO:0060326	Process	Cell chemotaxis	IEA
GO:0060996	Process	Dendritic spine development	IEA
GO:0060996	Process	Dendritic spine development	IEA
GO:0060996	Process	Dendritic spine development	ISS
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061351	Process	Neural precursor cell proliferation	ISS
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IDA	12925710, 18034775
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1902723	Process	Negative regulation of skeletal muscle satellite cell proliferation	IEA
GO:1902723	Process	Negative regulation of skeletal muscle satellite cell proliferation	ISS
GO:1902725	Process	Negative regulation of satellite cell differentiation	IEA
GO:1902725	Process	Negative regulation of satellite cell differentiation	ISS

Other IDs

• MIM: 600600
• HGNC: 3392
• e!Ensembl: ENSG00000154928

Protein

• UniProt ID: P54762
• Protein name: Ephrin type-B receptor 1 (EC 2.7.10.1) (ELK) (EPH tyrosine kinase 2) (EPH-like kinase 6) (EK6) (hEK6) (Neuronally-expressed EPH-related tyrosine kinase) (NET) (Tyrosine-protein kinase receptor EPH-2)
• Protein function: Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is
• PDB: 2DJS, 2EAO, 3ZFX, 5MJA, 5MJB, 6UMW, 7KPL, 7KPM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01404	Ephrin_lbd	20 → 196	Ephrin receptor ligand binding domain	Domain
  PF00041	fn3	324 → 418	Fibronectin type III domain	Domain
  PF00041	fn3	434 → 518	Fibronectin type III domain	Domain
  PF14575	EphA2_TM	542 → 616	Ephrin type-A receptor 2 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	619 → 878	Protein tyrosine and serine/threonine kinase	Domain
  PF00536	SAM_1	909 → 973	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Preferentially expressed in brain.
• Sequence:

  MALDYLLLLLLASAVAAMEETLMDTRTATAELGWTANPASGWEEVSGYDENLNTIRTYQV
  CNVFEPNQNNWLLTTFINRRGAHRIYTEMRFTVRDCSSLPNVPGSCKETFNLYYYETDSV
  IATKKSAFWSEAPYLKVDTIAADESFSQVDFGGRLMKVNTEVRSFGPLTRNGFYLAFQDY
  GACMSLLSVRVFFKKCPSIVQNFAVFPETMTGAESTSLVIARGTCIPNAEEVDVPIKLYC
  NGDGEWMVPIGRCTCKPGYEPENSVACKACPAGTFKASQEAEGCSHCPSNSRSPAEASPI
  CTCRTGYYRADFDPPEVACTSVPSGPRNVISIVNETSIILEWHPPRETGGRDDVTYNIIC
  KKCRADRRSCSRCDDNVEFVPRQLGLTECRVSISSLWAHTPYTFDIQAINGVSSKSPFPP
  QHVSVNITTNQAAPSTVPIMHQVSATMRSITLSWPQPEQPNGIILDYEIRYYEKEHNEFN
  SSMARSQTNTARIDGLRPGMVYVVQVRARTVAGYGKFSGKMCFQTLTDDDYKSELREQLP
  LIAGSAAAGVVFVVSLVAISIVCSRKRAYSKEAVYSDKLQHYSTGRGSPGMKIYIDPFTY
  EDPNEAVREFAKEIDVSFVKIEEVIGAGEFGEVYKGRLKLPGKREIYVAIKTLKAGYSEK
  QRRDFLSEASIMGQFDHPNIIRLEGVVTKSRPVMIITEFMENGALDSFLRQNDGQFTVIQ
  LVGMLRGIAAGMKYLAEMNYVHRDLAARNILVNSNLVCKVSDFGLSRYLQDDTSDPTYTS
  SLGGKIPVRWTAPEAIAYRKFTSASDVWSYGIVMWEVMSFGERPYWDMSNQDVINAIEQD
  YRLPPPMDCPAALHQLMLDCWQKDRNSRPRFAEIVNTLDKMIRNPASLKTVATITAVPSQ
  PLLDRSIPDFTAFTTVDDWLSAIKMVQYRDSFLTAGFTSLQLVTQMTSEDLLRIGITLAG
  HQKKILNSIHSMRVQISQSPTAMA

• Sequence length: 984

Pathways

KEGG:

Axon guidance

Reactome:

EPH-Ephrin signaling
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN LIPOMATOUS NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN SOFT TISSUE NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ 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
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ 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
Acute pancreatitis	Pancreatitis	BEFREE	31593553		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26463840		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	29924316		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	29237910		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28024920		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21335363		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25879388		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29079839		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	12784104		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28188993		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31555859		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	17876324, 19698724, 26678348, 29374517, 30692908, 31383926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31138830		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	12805287, 18591486		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE D	Brachydactyly	BEFREE	30904854		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28194092		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29907248, 31048354, 31289549		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29402903	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18424888, 29091800		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31730575, 37021545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31048354		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25120806	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22491060, 24606480, 31551362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	29237910		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	27482646, 28098761, 29307515, 29521944, 29561272, 30095460, 30098710, 31422400, 31428952, 31511024		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22664639		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29599164		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25879388		★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	29253590		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28285641, 28506850		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30715224		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29402903		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21811255, 28394712		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18931529		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24427352, 25120806	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27398792, 38102712	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31114589		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18081710, 18591486, 19105200, 25990886		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27335338, 29924943, 31217526		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27335338, 29924943, 31217526		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31377977		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31426112		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	18591486		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31074241		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36581816	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GWASCAT_DG	26220383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18649358	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	27046647		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	BEFREE	30255202		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	31109382		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gastro-enteropancreatic neuroendocrine tumor	Digestive system neuroendocrine neoplasm	BEFREE	26348352		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31301733		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31113438		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31173429, 31382921, 31640611		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	28283864		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	15677564	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23633414, 27470511		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35378949	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30664566		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	26905068, 30852831		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	28225311, 29521944		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20061560	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25944917	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21763378, 22378020, 29423111		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36834826	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29145657		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	31511024		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36402751	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29588275, 30915077, 31661552		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	28283864		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17917281, 19105200, 19564048, 26960194, 27046647, 28068779, 29703117		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29236320		★☆☆☆☆ Found in Text Mining only
Malignant Carcinoid Syndrome	Carcinoid tumor of intestine	BEFREE	29142475		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24121831		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31173429, 31382921, 31640611		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	26463840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29907248, 31048354, 31289549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18473355, 31048354, 31712234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31807514		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18424888, 24716914		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21681495, 23478628, 28394712, 31048354, 31074241, 31301733		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29402903		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31550712		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	BEFREE	29952421		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25879388		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	18081710, 18591486, 19105200, 25990886		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31533348		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	28418735		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	19294466, 22690831, 28225311, 28429092, 28567607, 28940393		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, 7	Myofibrillar myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	19652721	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17699847, 18424888, 19766068, 22732316, 23478628, 23582916, 24121831, 25120831, 25879388, 27566252, 28194092, 28454229, 28810646, 29145657, 29359266, 29388013, 29602973, 29915428, 30127877, 30615596, 30900485, 31137689, 31467527, 31511024, 31533348, 31846429		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28477684		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29550816		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	8798576	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	28567607		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	20049409, 25947577, 27222126, 27482646, 27592118, 28225311, 28289088, 28455360, 28614007, 28614036, 28704096, 28856815, 29091800, 29383678, 29675587, 29912000, 29952421, 30098710, 31097087, 31233624, 31280274, 31511024, 31555859		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	31301733		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	19246520	Associate	★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	31552036		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23202957, 24427352	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25120806	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31807514		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	28455360, 29912000		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	28098761		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	24312678, 26508020, 27046647		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30361900		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21085126, 28418735, 28477684, 28712000		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	26508020		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28418735		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	29162745		★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	BEFREE	25007176		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	28599054		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19652721	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	24712576		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	29738371		★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	BEFREE	18081710		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22761470		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17942634, 30915077, 31661552		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21041834, 25450228, 27028544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29130366		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18473355, 27566252		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	28488683		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28488683		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28247912		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	18424888, 24716914		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24427352, 25120806	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24716914	Stimulate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25562676	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	25562676	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma of ovary	Undifferentiated ovarian carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19105200, 26960194, 28068779, 29703117		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23478628	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	15928660	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	27426444, 31138830		★☆☆☆☆ Found in Text Mining only