TACR1 (tachykinin receptor 1)

Gene

• Entrez ID: 6869
• Gene name: Tachykinin receptor 1
• Gene symbol: TACR1
• Synonyms (NCBI Gene): NK1R, NKIR, SPR, TAC1R
• Chromosome: 2
• Chromosome location: 2p12
• Summary: This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, al

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736804	hsa-miR-206	Western blotting, Immunofluorescence	31579977
MIRT1408484	hsa-miR-1245b-3p	CLIP-seq
MIRT1408485	hsa-miR-181a	CLIP-seq
MIRT1408486	hsa-miR-181b	CLIP-seq
MIRT1408487	hsa-miR-181c	CLIP-seq
MIRT1408488	hsa-miR-181d	CLIP-seq
MIRT1408489	hsa-miR-3179	CLIP-seq
MIRT1408490	hsa-miR-3180-5p	CLIP-seq
MIRT1408491	hsa-miR-3664-3p	CLIP-seq
MIRT1408492	hsa-miR-377	CLIP-seq
MIRT1408493	hsa-miR-4262	CLIP-seq
MIRT1408494	hsa-miR-4502	CLIP-seq
MIRT1408495	hsa-miR-4696	CLIP-seq
MIRT1408496	hsa-miR-4762-3p	CLIP-seq
MIRT1408497	hsa-miR-520a-5p	CLIP-seq
MIRT1408498	hsa-miR-520g	CLIP-seq
MIRT1408499	hsa-miR-520h	CLIP-seq
MIRT1408500	hsa-miR-525-5p	CLIP-seq
MIRT1408501	hsa-miR-609	CLIP-seq
MIRT1408502	hsa-miR-873	CLIP-seq
MIRT1408503	hsa-miR-297	CLIP-seq
MIRT1408504	hsa-miR-3187-3p	CLIP-seq
MIRT1408505	hsa-miR-3655	CLIP-seq
MIRT1408506	hsa-miR-3668	CLIP-seq
MIRT1408507	hsa-miR-4252	CLIP-seq
MIRT1408508	hsa-miR-4286	CLIP-seq
MIRT1408509	hsa-miR-4435	CLIP-seq
MIRT1408510	hsa-miR-4646-3p	CLIP-seq
MIRT1408511	hsa-miR-4701-5p	CLIP-seq
MIRT1408512	hsa-miR-548s	CLIP-seq
MIRT1408513	hsa-miR-567	CLIP-seq
MIRT1408514	hsa-miR-588	CLIP-seq
MIRT1408515	hsa-miR-642a	CLIP-seq
MIRT1408516	hsa-miR-892a	CLIP-seq
MIRT1408503	hsa-miR-297	CLIP-seq
MIRT1408504	hsa-miR-3187-3p	CLIP-seq
MIRT1408505	hsa-miR-3655	CLIP-seq
MIRT1408506	hsa-miR-3668	CLIP-seq
MIRT1408507	hsa-miR-4252	CLIP-seq
MIRT1408508	hsa-miR-4286	CLIP-seq
MIRT1408509	hsa-miR-4435	CLIP-seq
MIRT1408510	hsa-miR-4646-3p	CLIP-seq
MIRT1408511	hsa-miR-4701-5p	CLIP-seq
MIRT1408512	hsa-miR-548s	CLIP-seq
MIRT1408513	hsa-miR-567	CLIP-seq
MIRT1408514	hsa-miR-588	CLIP-seq
MIRT1408515	hsa-miR-642a	CLIP-seq
MIRT1408516	hsa-miR-892a	CLIP-seq
MIRT1408505	hsa-miR-3655	CLIP-seq
MIRT1408508	hsa-miR-4286	CLIP-seq
MIRT1408510	hsa-miR-4646-3p	CLIP-seq
MIRT1408515	hsa-miR-642a	CLIP-seq
MIRT1408503	hsa-miR-297	CLIP-seq
MIRT1408504	hsa-miR-3187-3p	CLIP-seq
MIRT1408505	hsa-miR-3655	CLIP-seq
MIRT1408506	hsa-miR-3668	CLIP-seq
MIRT1408507	hsa-miR-4252	CLIP-seq
MIRT1408508	hsa-miR-4286	CLIP-seq
MIRT1408509	hsa-miR-4435	CLIP-seq
MIRT1408510	hsa-miR-4646-3p	CLIP-seq
MIRT1408511	hsa-miR-4701-5p	CLIP-seq
MIRT1408512	hsa-miR-548s	CLIP-seq
MIRT1408513	hsa-miR-567	CLIP-seq
MIRT1408514	hsa-miR-588	CLIP-seq
MIRT1408515	hsa-miR-642a	CLIP-seq
MIRT1408516	hsa-miR-892a	CLIP-seq
MIRT1408503	hsa-miR-297	CLIP-seq
MIRT1408504	hsa-miR-3187-3p	CLIP-seq
MIRT1408505	hsa-miR-3655	CLIP-seq
MIRT1408506	hsa-miR-3668	CLIP-seq
MIRT1408507	hsa-miR-4252	CLIP-seq
MIRT1408509	hsa-miR-4435	CLIP-seq
MIRT1408511	hsa-miR-4701-5p	CLIP-seq
MIRT1408512	hsa-miR-548s	CLIP-seq
MIRT1408513	hsa-miR-567	CLIP-seq
MIRT1408514	hsa-miR-588	CLIP-seq
MIRT1408516	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002118	Process	Aggressive behavior	IEA
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0003051	Process	Angiotensin-mediated drinking behavior	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004995	Function	Tachykinin receptor activity	IEA
GO:0004995	Function	Tachykinin receptor activity	TAS	8985172
GO:0005515	Function	Protein binding	IPI	12716968, 17986524, 23597562, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17986524
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1657150, 10611312
GO:0006954	Process	Inflammatory response	TAS	10854844
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	1657150
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	12716968
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007217	Process	Tachykinin receptor signaling pathway	IDA	17986524
GO:0007217	Process	Tachykinin receptor signaling pathway	IMP	12716968
GO:0007217	Process	Tachykinin receptor signaling pathway	TAS	8985172
GO:0007611	Process	Learning or memory	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008306	Process	Associative learning	IEA
GO:0009582	Process	Detection of abiotic stimulus	TAS	9537323
GO:0009725	Process	Response to hormone	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010193	Process	Response to ozone	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0014910	Process	Regulation of smooth muscle cell migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016496	Function	Substance P receptor activity	IBA
GO:0016496	Function	Substance P receptor activity	IEA
GO:0016496	Function	Substance P receptor activity	IMP	12716968
GO:0030425	Component	Dendrite	IEA
GO:0032224	Process	Positive regulation of synaptic transmission, cholinergic	IEA
GO:0032230	Process	Positive regulation of synaptic transmission, GABAergic	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035106	Process	Operant conditioning	IEA
GO:0036126	Component	Sperm flagellum	IDA	17437961
GO:0042713	Process	Sperm ejaculation	IEA
GO:0042755	Process	Eating behavior	IEA
GO:0043117	Process	Positive regulation of vascular permeability	IEA
GO:0044297	Component	Cell body	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045760	Process	Positive regulation of action potential	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046887	Process	Positive regulation of hormone secretion	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IEA
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0060083	Process	Smooth muscle contraction involved in micturition	IEA
GO:0061827	Component	Sperm head	IDA	17437961
GO:0070472	Process	Regulation of uterine smooth muscle contraction	IEA
GO:0070474	Process	Positive regulation of uterine smooth muscle contraction	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0097225	Component	Sperm midpiece	IBA
GO:0097225	Component	Sperm midpiece	IDA	17437961
GO:0097225	Component	Sperm midpiece	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IBA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IMP	17437961

Other IDs

• MIM: 162323
• HGNC: 11526
• e!Ensembl: ENSG00000115353

Protein

• UniProt ID: P25103
• Protein name: Substance-P receptor (SPR) (NK-1 receptor) (NK-1R) (Tachykinin receptor 1)
• Protein function: This is a receptor for the tachykinin neuropeptide substance P. It is probably associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is: substa
• PDB: 2KS9, 2KSA, 2KSB, 6E59, 6HLL, 6HLO, 6HLP, 7P00, 7P02, 7RMG, 7RMH, 7RMI, 8U26
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	49 → 305	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MDNVLPVDSDLSPNISTNTSEPNQFVQPAWQIVLWAAAYTVIVVTSVVGNVVVMWIILAH
  KRMRTVTNYFLVNLAFAEASMAAFNTVVNFTYAVHNEWYYGLFYCKFHNFFPIAAVFASI
  YSMTAVAFDRYMAIIHPLQPRLSATATKVVICVIWVLALLLAFPQGYYSTTETMPSRVVC
  MIEWPEHPNKIYEKVYHICVTVLIYFLPLLVIGYAYTVVGITLWASEIPGDSSDRYHEQV
  SAKRKVVKMMIVVVCTFAICWLPFHIFFLLPYINPDLYLKKFIQQVYLAIMWLAMSSTMY
  NPIIYCCLNDRFRLGFKHAFRCCPFISAGDYEGLEMKSTRYLQTQGSVYKVSRLETTIST
  VVGAHEEEPEDGPKATPSSLDLTSNCSSRSDSKTMTESFSFSSNVLS

• Sequence length: 407

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction

Reactome:

Tachykinin receptors bind tachykinins
G alpha (q) signalling events
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

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
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRADYCARDIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ 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
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TACR1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	30145367		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21120581		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30145367		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28927139		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21120581		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21726643		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31447579		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29896303		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	28291261		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	28291261	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19545476, 37142998	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19553914	Inhibit	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29948553, 30054674		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28291261, 29948553, 30054674		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	28291261	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31350812		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	22089831	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31010320, 9717978	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17392578, 29295703, 30233858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	10415087, 15390113, 16806114, 28204809		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	35950469	Associate	★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	30145367		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19204064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	24817687	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19204064, 24817687, 27462087		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19204064		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30405245		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	18486533		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19204064, 19415819, 24817687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	19204064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204064, 19415819, 24817687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24817687	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	29788447		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23807418, 25130457, 25175857, 30223097, 30334298, 30684188		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16291810, 20497542, 24030979, 36797689	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36629320	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial Diseases	CTD_human_DG	15774269		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	23807418, 30223097		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30205930		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36686487	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30576949		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30799092		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21120581		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	20889569		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	23582152	Associate	★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	31545881		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	11443547		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28101005		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40243727	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	20889569, 21969570		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	10940277	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11073811	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22733436		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29843798, 34395609	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of nose	Congenital Anomaly Of Nose	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	24603459		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	24642234		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	29558039		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	28205389		★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	16893949	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10940277, 11073811, 20889569		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10940277	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	11073811	Stimulate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	21284654		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	30196377		★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	20008142	Inhibit	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18289674		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28493529, 9572640		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	19204064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	12692775, 16594257, 17974009, 20112009, 24705689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28150369, 29056150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	30773959, 36686487	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	9534883	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28460633		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	31442331		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40243727	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28750336, 30057556, 31016359		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22029806	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28750336, 30057556, 31016359		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36686487	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	GENOMICS_ENGLAND_DG	11443547, 22522443, 27604308, 28189489		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	UNIPROT_DG	11443547, 16650784, 17159114		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	CLINVAR_DG	16049044, 22522443		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	BEFREE	19234759		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	Dopa-responsive dystonia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28154998, 28460633		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30225581		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27051050	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19903051, 23553861, 30689856		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19903051	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	37405438	Stimulate	★☆☆☆☆ Found in Text Mining only
Enteritis	Enteritis	BEFREE	9541482		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28474564		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	27456549		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28256736, 31256921		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30903649		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	29558791	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	Pubtator	36686487	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16012865, 16778112, 28341744, 28849160, 29713762, 30301182		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23166329, 28341744, 30301182, 35434136	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16012865, 16778112, 28341744, 28849160, 29713762, 30301182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	23166329, 35434136, 9888463	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	29692265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	29575692	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	26516161, 31466222		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	11443547, 11592814, 17188538		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	BEFREE	19234759		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	BEFREE	11592814, 17188538, 31381993		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	21294877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28632750, 31358823		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	30273701		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	10940277, 11073811, 17602742, 20160079, 9483197		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10940277, 11073811, 23582152, 25684939	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	17602742		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	16650784		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	23582152	Associate	★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	26188273		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	27456549	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21120581		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	24817687		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	24817687		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	24817687	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	24817687		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	24817687		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30193189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23807418, 25130457, 25175857, 30334298, 30684188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30225581		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30903649		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28550801		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12746482, 23345604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28325510		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21034671, 21969570, 23345604, 23933301, 25175857, 26516161, 28691209, 28969417, 29061788, 29389803, 29466853, 30225581, 30604756, 30684188, 31109645, 31256921, 31372898, 31466222		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16901764		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23807418, 24030979		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	19204064		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	19204064		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	21284654		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24548567		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36629320	Stimulate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	12692775, 16594257, 17974009, 20112009, 24705689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28150369, 29056150		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	16815618, 23078527, 24817687		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	19204064		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	10818257, 12562138, 12692775, 19415819, 24817687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	12692775, 19415819, 24817687		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Diseases	Mouth disease	Pubtator	23553861	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33602248	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	34329663	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22039549	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	31488714		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35434136	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12746482, 16778112, 21034671, 21969570, 23420374, 24190675, 25734919, 26093909, 26437640, 26516161, 27456549, 30225581, 30334298, 30684188, 31109645, 31466222		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24096079, 26093909, 34329663	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26093909, 27888795, 29061769, 29061788, 30582709, 30639262		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34329663	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18035424, 26965686, 28101005		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	28969417, 31292915		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30095600		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28493529		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24190675		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36177059	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12746482, 23345604		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10816627, 12746482	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	11275376		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	18452185		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14663042, 16443856, 17270157, 19246455, 21782285, 27613114, 30070746		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	16443856		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	16443856, 17270157, 27613114	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	22018912		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29558039, 31446866		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29558039, 31446866		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	36686487	Associate	★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	BEFREE	17188538		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	11443547, 11592814		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17980427		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	20074437, 26828717		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30145367		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30145367		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37385990	Associate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	37681909	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	40243727	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	17525212		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34187205	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16154193, 31010320, 31350812, 9572640		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16154193		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	LHGDN	14601651		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16815618, 20846490		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	17443717		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30095600, 31261857		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	25786041		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	37408182	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	28154998		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	17667845	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	LHGDN	17667845		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	29788447		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31109645		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19528498	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35950469	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23420374		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28474564		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28325510		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32363847	Associate	★☆☆☆☆ Found in Text Mining only
Transient hyperphenylalaninemia	Transient hyperphenylalaninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26981525		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10940277, 11073811, 21342363		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	30193189		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36629320	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27456549		★☆☆☆☆ Found in Text Mining only