DRD3 (dopamine receptor D3)

Gene

• Entrez ID: 1814
• Gene name: Dopamine receptor D3
• Gene symbol: DRD3
• Synonyms (NCBI Gene): D3DR, ETM1, FET1
• Chromosome: 3
• Chromosome location: 3q13.31
• Summary: This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6280	C>T	Risk-factor, benign, likely-benign	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029658	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IBA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	8301582
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IEA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002031	Process	G protein-coupled receptor internalization	IDA	18424554
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004952	Function	Dopamine neurotransmitter receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	10692483, 16386234, 18424554, 26460884
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	8301582
GO:0005886	Component	Plasma membrane	IDA	8413587, 16386234, 18424554, 20531939
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	7911712
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	7911712
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IDA	18424554
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	7907363, 8666994, 18424554
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007611	Process	Learning or memory	NAS	14681904
GO:0007612	Process	Learning	NAS	15998189
GO:0007626	Process	Locomotory behavior	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009410	Process	Response to xenobiotic stimulus	ISS
GO:0014059	Process	Regulation of dopamine secretion	IBA
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0016020	Component	Membrane	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0034776	Process	Response to histamine	IDA	16839358
GO:0035176	Process	Social behavior	NAS	12860355
GO:0042220	Process	Response to cocaine	IEP	10415668
GO:0042417	Process	Dopamine metabolic process	IC	8301582
GO:0043266	Process	Regulation of potassium ion transport	IBA
GO:0043278	Process	Response to morphine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	ISS
GO:0045744	Process	Negative regulation of G protein-coupled receptor signaling pathway	IEA
GO:0045776	Process	Negative regulation of blood pressure	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0046717	Process	Acid secretion	ISS
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048148	Process	Behavioral response to cocaine	IEP	8815892
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0050482	Process	Arachidonate secretion	IDA	8301582
GO:0050709	Process	Negative regulation of protein secretion	IDA	16839358
GO:0050883	Process	Musculoskeletal movement, spinal reflex action	ISS
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IBA
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IC	8301582
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051952	Process	Regulation of amine transport	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IBA
GO:0060134	Process	Prepulse inhibition	IMP	18325483
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IBA
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	ISS
GO:1903530	Process	Regulation of secretion by cell	IEA

Other IDs

• MIM: 126451
• HGNC: 3024
• e!Ensembl: ENSG00000151577

Protein

• UniProt ID: P35462
• Protein name: D(3) dopamine receptor (Dopamine D3 receptor)
• Protein function: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation.
• PDB: 3PBL, 7CMU, 7CMV, 8IRT, 9F33, 9F34
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	46 → 383	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain.
• Sequence:

  MASLSQLSSHLNYTCGAENSTGASQARPHAYYALSYCALILAIVFGNGLVCMAVLKERAL
  QTTTNYLVVSLAVADLLVATLVMPWVVYLEVTGGVWNFSRICCDVFVTLDVMMCTASILN
  LCAISIDRYTAVVMPVHYQHGTGQSSCRRVALMITAVWVLAFAVSCPLLFGFNTTGDPTV
  CSISNPDFVIYSSVVSFYLPFGVTVLVYARIYVVLKQRRRKRILTRQNSQCNSVRPGFPQ
  QTLSPDPAHLELKRYYSICQDTALGGPGFQERGGELKREEKTRNSLSPTIAPKLSLEVRK
  LSNGRLSTSLKLGPLQPRGVPLREKKATQMVAIVLGAFIVCWLPFFLTHVLNTHCQTCHV
  SPELYSATTWLGYVNSALNPVIYTTFNIEFRKAFLKILSC

• Sequence length: 400

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Dopaminergic synapse

Reactome:

Dopamine receptors
G alpha (i) signalling events

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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISRUPTIVE, IMPULSE CONTROL, AND CONDUCT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRD3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, DRUG-INDUCED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential tremor, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL TREMOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary essential tremor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR HEREDITARY ESSENTIAL, 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tremor, hereditary essential, 1	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal involuntary movement	Abnormal Involuntary Movement	BEFREE	10395214, 11839369		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11723200	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	11723200		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	25102390, 35285297	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	25102390		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	9442347		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	23891037	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30292827		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	16583407, 24021960, 30292827		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10686563, 11864723, 17671965, 19041097		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	21691864, 23032108	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19058789, 21691864, 22397633, 23032108, 25224105, 25792691		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	19058789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	25158632, 28470827, 29249220	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	25224105, 25792691, 29249220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	19506579		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	10482338, 10909128, 11378841, 11857579, 12834818, 15539862, 22877924, 7573178, 8098068, 8493294, 8509522, 9129711, 9149327		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	15539862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16969276, 17239488, 19647327, 22877924, 24021960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27310943, 28751646	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar II disorder	Bipolar Disorder	BEFREE	20698735, 22877924, 27310943		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20180013		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36456906	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31850367		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	19464960	Associate	★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	11839369, 18320559, 8987818		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	15619116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	21491142	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Migraine	Common Migraine	BEFREE	9748026		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	19309018, 8750359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delirium	Delirium	PSYGENET_DG	19309018, 8750359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delusions	Delusions	BEFREE	11723200, 15342129		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15342129, 19363270		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	17851196, 19235789, 20685009, 21630437, 30292827, 31143436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	17851196, 19235789, 20685009, 21630437, 23357086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	23365649	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22180640	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25927430		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15004255		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	25896831, 32710539	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	CTD_human_DG	17332411, 19940168, 20671181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	27325396, 29361389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesia, Drug-Induced	Dyskinesia	CTD_human_DG	20945430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	12109967, 15626824		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	12960753, 14623353, 19353703, 19439249, 26483399, 29191473		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	11584043		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	19506579		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11796958		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	12882651, 15699368, 16721753, 16809426, 17703985, 18316228, 18484990, 19092771, 19524641, 19645064, 20434388, 23114103, 24054403, 27456607, 9827627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Essential tremor	Pubtator	15699368, 16809426, 18316228, 19524641, 23114103	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	LHGDN	16809426, 18316228, 18484990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Etat Marbre	Status marmoratus	CTD_human_DG	12535962		★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	19506579		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	CTD_human_DG	10523822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	25698199, 7810583, 9686422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	22180640, 23920044		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34493981	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	24398431		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	24398431		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	40532247	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperprolactinemia	BEFREE	31520576		★☆☆☆☆ Found in Text Mining only
Hyperprolactinemia	Hyperproinsulinemia	Pubtator	31520576	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24308971	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19653907	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	14681904, 21491142		★☆☆☆☆ Found in Text Mining only
Intermittent Explosive Disorder	Intermittent Explosive Disorder	CTD_human_DG	17332411, 19940168, 20671181		★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15004255		★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	19506579		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30419062	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10482338, 10909128, 11857579, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10482338, 10909128, 11857579, 7573178, 8098068, 8493294, 9129711, 9149327		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	9790747	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10482338, 10909128, 11857579, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10482338, 10909128, 11857579, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10482338, 10909128, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10482338, 10909128, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10482338, 10909128, 7573178, 8098068, 8493294, 9129711		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	10697826, 16583407, 22093107, 24927283, 28531264, 8464957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	16583407, 21630437, 21680027, 22093107, 24927283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	20180013		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	17851196, 19235789, 20685009, 21630437, 29390063, 30292827, 31143436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	17851196, 19235789, 20685009, 21630437, 23357086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	10490702, 10697826, 24776816, 25264289		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27310943, 29791666	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	12047334, 20236178, 24728302		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	10686561		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10697826, 10909128, 7972571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	10697826, 10760558, 10909128, 7972571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Disorders	Motor Disorders	BEFREE	15626824		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	11179771, 19058789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CTD_human_DG	12535962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement disorder	Pubtator	26787837	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTICISM	Neuroticism	BEFREE	10686561		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hereditary essential tremor	Hereditary Essential Tremor	Orphanet			★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11176958, 15342129, 15564898, 18351593, 19142409, 26561806, 27753212, 9779662		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	22521161, 7810583, 9154247		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	11140333		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14623353, 16809426, 19353703, 19396436, 19524641, 19562769, 19669131, 20434388, 20945430, 21663922, 26627941, 27183640, 27325396, 27693549, 27779245, 27817855, 28097465, 29361389, 29856137, 30128652, 31118938, 31143436, 31765822, 31810491		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21663922, 25896831, 26627941	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26718579, 26787837	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	14623353, 27325396		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	12860355		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	19058789, 25792691		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10065778		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25158632, 29510167		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15342129, 19363270		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	10490702, 11176958, 15342129, 15539862, 15564898, 18351593, 19142409, 26561806, 27753212, 9779662		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	11723200	Associate	★☆☆☆☆ Found in Text Mining only
Punding	Punding	BEFREE	29361389		★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	PSYGENET_DG	8509522		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	18451638		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	11063791, 15567076, 18320559		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10379516, 10395214, 10402493, 10402502, 10490702, 10670776, 10869881, 10889555, 11063791, 11104840, 11121180, 11149951, 11179771, 11343865, 11378841, 11478419, 11673801, 12082567, 12497614, 12605094, 12960753, 1362221, 14681904, 15051179, 15083167, 15342129, 15539862, 15567076, 15920292, 15998189, 16056149, 16788776, 16893532, 17125970, 17171662, 17698325, 17924589, 18295456, 18320559, 18451638, 18472202, 18496209, 18551040, 18703116, 18987889, 19302829, 19508883, 19691023, 19766158, 19897343, 20100784, 20456319, 20667458, 21110120, 21595009, 21737144, 21948748, 21963356, 22172931, 22569179, 22940547, 23571810, 23932573, 25158632, 25181639, 25262640, 25264289, 26376054, 26561806, 27244229, 27591410, 28531264, 29128790, 29200860, 29357295, 31773210, 31813806, 7810586, 7860086, 7903510, 7909989, 7914142, 8135304, 8225313, 8464957, 8517175, 8641685, 8678117, 8723055, 8775753, 8780735, 8794508, 8825896, 8837704, 8950407, 8994215, 9017973, 9034004, 9068771, 9106238, 9118322, 9491816, 9514583, 9577838, 9577839, 9674978, 9686422, 9702743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	10523822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12082567, 12207142, 12605094, 12960753, 15539862, 15998189, 16056149, 17429404, 17924589, 18043709, 18045777, 18295456, 18551040, 18987889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	15920292	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20100784, 23932573, 25158632, 25264289, 29791666, 9790747	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophreniform Disorders	Schizophreniform Disorders	BEFREE	26561806		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	20685009		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Tremor hereditary essential 1	Tremor	Pubtator	12882651	Associate	★☆☆☆☆ Found in Text Mining only
TREMOR, HEREDITARY ESSENTIAL, 1	TREMOR	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	25062845		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	10697826, 11287789, 16583407, 22093107, 24927283, 28531264, 8464957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	16583407, 21630437, 21680027, 22093107, 24927283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visual seizure	Seizure	CTD_human_DG	18566292		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	29361389		★☆☆☆☆ Found in Text Mining only