DRD4 (dopamine receptor D4)

Gene

• Entrez ID: 1815
• Gene name: Dopamine receptor D4
• Gene symbol: DRD4
• Synonyms (NCBI Gene): D4DR
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776842	GCCGACCTCCTCC>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022474	hsa-miR-124-3p	Microarray	18668037
MIRT2519495	hsa-miR-125a-5p	CLIP-seq
MIRT2519496	hsa-miR-125b	CLIP-seq
MIRT2519497	hsa-miR-133a	CLIP-seq
MIRT2519498	hsa-miR-133b	CLIP-seq
MIRT2519499	hsa-miR-3187-3p	CLIP-seq
MIRT2519500	hsa-miR-3189-3p	CLIP-seq
MIRT2519501	hsa-miR-4281	CLIP-seq
MIRT2519502	hsa-miR-4319	CLIP-seq
MIRT2519503	hsa-miR-4529-5p	CLIP-seq
MIRT2519504	hsa-miR-4649-3p	CLIP-seq
MIRT2519505	hsa-miR-4732-3p	CLIP-seq
MIRT2519506	hsa-miR-544b	CLIP-seq
MIRT2519507	hsa-miR-670	CLIP-seq
MIRT2519495	hsa-miR-125a-5p	CLIP-seq
MIRT2519496	hsa-miR-125b	CLIP-seq
MIRT2519497	hsa-miR-133a	CLIP-seq
MIRT2519498	hsa-miR-133b	CLIP-seq
MIRT2519499	hsa-miR-3187-3p	CLIP-seq
MIRT2519500	hsa-miR-3189-3p	CLIP-seq
MIRT2519501	hsa-miR-4281	CLIP-seq
MIRT2519502	hsa-miR-4319	CLIP-seq
MIRT2519503	hsa-miR-4529-5p	CLIP-seq
MIRT2519504	hsa-miR-4649-3p	CLIP-seq
MIRT2519505	hsa-miR-4732-3p	CLIP-seq
MIRT2519506	hsa-miR-544b	CLIP-seq
MIRT2519507	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	1840645, 9003072
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IEA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IMP	27659709
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	ISS
GO:0001662	Process	Behavioral fear response	NAS	12860355
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0001975	Process	Response to amphetamine	ISS
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004952	Function	Dopamine neurotransmitter receptor activity	IDA	8413587
GO:0004952	Function	Dopamine neurotransmitter receptor activity	IEA
GO:0004993	Function	G protein-coupled serotonin receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	12297500, 32814053
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8413587, 9003072, 9843378, 15755724, 20531939, 27659709
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	7921596
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	7512953, 9003072, 9843378
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	27659709
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0015459	Function	Potassium channel regulator activity	NAS	12297500
GO:0016020	Component	Membrane	IDA	7512953
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	IDA	9843378
GO:0030425	Component	Dendrite	IBA
GO:0030534	Process	Adult behavior	IEA
GO:0030594	Function	Neurotransmitter receptor activity	IBA
GO:0034776	Process	Response to histamine	IDA	16839358
GO:0035176	Process	Social behavior	NAS	11126393, 11409696
GO:0035240	Function	Dopamine binding	IDA	1319557, 9003072
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	ISS
GO:0042596	Process	Fear response	IEA
GO:0042596	Process	Fear response	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042802	Function	Identical protein binding	IPI	21184734, 21320289
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9843378
GO:0046872	Function	Metal ion binding	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0048149	Process	Behavioral response to ethanol	TAS	12888781
GO:0048511	Process	Rhythmic process	IEA
GO:0050482	Process	Arachidonate secretion	IDA	7512953
GO:0050709	Process	Negative regulation of protein secretion	IDA	16839358
GO:0051049	Process	Regulation of transport	IEA
GO:0051379	Function	Epinephrine binding	IDA	9003072
GO:0051380	Function	Norepinephrine binding	IDA	9003072
GO:0051586	Process	Positive regulation of dopamine uptake involved in synaptic transmission	IC	1840645
GO:0060080	Process	Inhibitory postsynaptic potential	IEA
GO:0060080	Process	Inhibitory postsynaptic potential	ISS
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IDA	1840645
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0098664	Process	G protein-coupled serotonin receptor signaling pathway	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099149	Process	Regulation of postsynaptic neurotransmitter receptor internalization	IEA

Other IDs

• MIM: 126452
• HGNC: 3025
• e!Ensembl: ENSG00000069696

Protein

• UniProt ID: P21917
• Protein name: D(4) dopamine receptor (D(2C) dopamine receptor) (Dopamine D4 receptor)
• Protein function: Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synt
• PDB: 5WIU, 5WIV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	51 → 400	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in retina. Detected at much lower levels in brain, in amygdala, thalamus, hypothalamus, cerebellum and pituitary. {ECO:0000269|PubMed:7769992}.
• Sequence:

  MGNRSTADADGLLAGRGPAAGASAGASAGLAGQGAAALVGGVLLIGAVLAGNSLVCVSVA
  TERALQTPTNSFIVSLAAADLLLALLVLPLFVYSEVQGGAWLLSPRLCDALMAMDVMLCT
  ASIFNLCAISVDRFVAVAVPLRYNRQGGSRRQLLLIGATWLLSAAVAAPVLCGLNDVRGR
  DPAVCRLEDRDYVVYSSVCSFFLPCPLMLLLYWATFRGLQRWEVARRAKLHGRAPRRPSG
  PGPPSPTPPAPRLPQDPCGPDCAPPAPGLPRGPCGPDCAPAAPSLPQDPCGPDCAPPAPG
  LPPDPCGSNCAPPDAVRAAALPPQTPPQTRRRRRAKITGRERKAMRVLPVVVGAFLLCWT
  PFFVVHITQALCPACSVPPRLVSAVTWLGYVNSALNPVIYTVFNAEFRNVFRKALRACC

• Sequence length: 419

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary attention deficit-hyperactivity disorder	Likely pathogenic	rs750696928	RCV003990291	★★★★☆ 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
ANTISOCIAL PERSONALITY DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY, SEPARATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT AND DISRUPTIVE BEHAVIOR DISORDERS	—	CTD	★★☆☆☆ 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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS USE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRD4 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRD4-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	Disgenet	★★☆☆☆ 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
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL AFFECTIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPARATION ANXIETY DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	24264533		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	26595480		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	10581473, 17440932, 19728374, 20336060, 23775054, 29455021		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	LHGDN	17440932		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	10551544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	23891037	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	12556912, 22607734, 23314010, 24100617, 27195896, 27490263		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	19209222, 23314010, 33784353, 34828440	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	12556912, 22607734, 23314010, 24100617, 27195896, 27490263		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	20600463, 33784353	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Separation	Anxiety disorder	Pubtator	20600463	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	36841266	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19653907	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	31003069	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	19017022, 20600463	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	14699430, 14699433, 17671965, 29054088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	10654656, 10781080, 11756666, 11923911, 12808433, 15077199, 15892149, 16380908, 16849269, 16894395, 17705902, 17886261, 18023044, 18094258, 19017022, 19288168, 19713452, 19906444, 20021692, 20410729, 20644990, 21072167, 21122117, 21207241, 22727763, 23665431, 24163823, 24290898, 24391992, 24611835, 24978879, 25107677, 25244120, 25271118, 25659462, 26307064, 26717573, 28138806, 28234207, 28282463, 28948080, 29564731, 30387076, 31426340, 31711956, 32491038, 32791971, 33137342, 34406637, 37667328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10327912, 10402503, 10781080, 10889550, 10898895, 10898896, 10898897, 10898898, 10898899, 11032386, 11032387, 11128331, 11276403, 11378855, 11409696, 11409697, 11425008, 11431226, 11443528, 11443530, 11449395, 11449401, 11483473, 11684336, 11803531, 11814546, 11986982, 12192625, 12454525, 12587848, 12685515, 12707943, 12808433, 12960764, 14699430, 14702261, 14755455, 15048658, 15094785, 15206004, 15211638, 15288435, 15389753, 15389755, 15389764, 15517431, 15519116, 15578612, 15578613, 15662148, 15722958, 15802092, 15863792, 15892149, 15909295, 15950004, 16055819, 16143039, 16165273, 16244326, 16331654, 16342279, 16585476, 16741944, 16751296, 16774975, 16781678, 16849269, 16917940, 16961425, 17028370, 17044099, 17077808, 17157268, 17171657, 17171658, 17501935, 17525975, 17560555, 17579349, 17671965, 17679637, 17850946, 17886261, 17979583, 18023044, 18081165, 18188752, 18194028, 18214865, 18361436, 18563476, 19025233, 19146920, 19288168, 19409950, 19619618, 19713452, 19906444, 20019071, 20021692, 20145962, 20166940, 20172533, 20410729, 20421851, 20468072, 20513229, 20551163, 20593420, 20644990, 20646063, 21072167, 21207241, 21216270, 21403674, 21527290, 21595008, 21844870, 21906006, 22271608, 22564179, 22610946, 22617852, 22727763, 23031802, 23083021, 23665431, 23929006, 24132904, 24391992, 24611835, 24825354, 25107677, 25262643, 25271118, 25555995, 25656223, 25659462, 25704081, 25840828, 26541360, 26581567, 26717573, 26897359, 27663943, 27676100, 27821512, 28138806, 28234207, 28258362, 28282463, 29054088, 29564731, 29905488, 30050420, 30338900, 31105599, 31628528, 9118321, 9491811, 9774775, 9774776, 9774777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	14699430, 14699433, 17671965, 29054088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	LHGDN	16331654, 17525975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	20600463, 36750796	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20600463, 20731709, 21906006, 30519864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	11378854, 15892149, 20166940		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	15892149	Associate	★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	LHGDN	18947481		★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	28450726		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10482338, 10646829, 15860340, 22543114, 7810585, 7914460, 9129719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	12232779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15627807, 15860340, 18332878, 22543114, 25233244		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	27063557, 28751646	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	20205808, 23968246		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	20205808	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	32108714	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26597879		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25556472	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	23968246		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	15522250, 22271608, 22683321		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	17922530, 20336060, 22271608, 22683321, 29455021		★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	20336060	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17175058		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	9149324		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	24264533		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37268894	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24264533		★☆☆☆☆ Found in Text Mining only
Childhood Tic Disorders	Tic Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18366720		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	18366720		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26307064		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26307064	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36345155	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	17474108, 9748026		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	LHGDN	17474108		★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	15288435		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduct Disorder	Conduct disorder	Pubtator	17705902	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	12811592		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	12811592		★☆☆☆☆ Found in Text Mining only
Delusional disorder	Delusional Disorder	BEFREE	10490704, 8268330, 9532348		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	10050966, 10490703, 9754691		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	15048656, 15565493, 19125104, 19235789, 20685009, 21506030, 22607734, 23796967, 27427178, 27494520, 29149620, 9459071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	22607734, 23512949, 23627963, 23796967, 25011686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	34828440	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	34828440, 39312335	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	37080173	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	26717573	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive Behavior Disorder	Disruptive Behavior Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Disruptive Behavior Disorder	Disruptive Behavior Disorder	BEFREE	26688118		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	22024001, 22345368, 22848508, 25896831, 28948080	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	17394052		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	18270821		★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	16917940		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	LHGDN	16424823		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	14755455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	Pubtator	37667328	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	Pubtator	37080173	Associate	★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	BEFREE	14560322		★☆☆☆☆ Found in Text Mining only
Dysphoric mood	Mood Disorder	PSYGENET_DG	14560322		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	22683321, 29455021		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29575277		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29455021		★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	BEFREE	22509378		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31003069	Associate	★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	10402503, 15094788, 25258183, 8725747, 8751866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	16894395	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	15627814		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26307064	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	24391992	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19653907	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	19397860		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26307064, 29325450		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22366260		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10482338, 15860340, 7810585, 7914460		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	10483058, 10512150, 16756688, 17938638, 20558238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	20558238, 25642918, 25854875, 26974654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	26597879		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17175058		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24264533		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15048656, 15565493, 19125104, 19235789, 20685009, 21506030, 22607734, 23796967, 27427178, 27494520, 29149620, 9459071		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	22607734, 23512949, 23627963, 23796967, 25011686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	10478793, 12860364, 15640766, 21873960, 22691691		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22366260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	17474108		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	LHGDN	17474108		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	12624717		★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	14699430, 14699433, 17671965, 29054088		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	19146920		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10512150, 11992558, 11992560, 12860364, 15627807, 15860340, 16319504, 16756688, 7907843, 8882909, 9353244, 9754691, 9754692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	15288435, 15627807, 15860340, 16319504, 16756688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	16319504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	30991630	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Tic Disorders	Motor Tic Disorders	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10091613		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19653907	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31003069	Associate	★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	10483054, 11163121, 16472910, 20090380, 21127031, 9672899		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17175058		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11282178, 15364409, 15564898, 20685009, 27753212, 9259377, 9779662		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	19397860		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	10581473, 14560322, 16760922, 20336060, 22848508, 24153108, 25687785		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20336060, 22848508, 23653272, 24153108, 30991630, 32589693	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	26808524	Inhibit	★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	12497615, 12650952, 15488960, 16996722, 18446263, 23127570, 8902887, 9280153		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	15389763, 20644990, 20731709, 22584505, 26184070		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	10898909, 11344357		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10091613, 10234518, 16816977, 21781348, 9727737		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25896831, 35532648	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	24283216		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	12860355		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	20731709		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	19330578, 31291235		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	10050966, 10478793, 10490703, 10490704, 11282178, 11353451, 15364409, 15564898, 17822780, 20685009, 22543114, 25233244, 27753212, 9259377, 9353244, 9532348, 9754691, 9779662		★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	BEFREE	11282178		★☆☆☆☆ Found in Text Mining only
Recurrent major depressive episodes	Mental Depression	BEFREE	9129719		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	18451638		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	23512949, 7944879, 9353244		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10329380, 10490704, 10889553, 11149951, 11289715, 11496369, 12223255, 12729944, 13129658, 14623368, 14755438, 15288435, 15627807, 15802092, 16223700, 16829780, 16887146, 17556853, 17822780, 18451638, 19092778, 19238168, 20040103, 20166940, 20801104, 21216474, 22543114, 22569179, 23512949, 24586542, 30476265, 7573171, 7726213, 7810584, 7860086, 7909222, 7944879, 7991733, 8135305, 8178839, 8546161, 8741229, 8825901, 8914122, 9088883, 9149324, 9199190, 9259377, 9353244, 9532348, 9777180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12223255, 16223700, 16424823, 17089069, 19000940		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18094258	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18583979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	BEFREE	15952869		★☆☆☆☆ Found in Text Mining only
Schizophrenia, Catatonic	Schizophrenia	BEFREE	10889553		★☆☆☆☆ Found in Text Mining only
Seasonal Affective Disorder	Seasonal Affective Disorder	BEFREE	14560322, 15522250, 16760922, 20336060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal Affective Disorder	PSYGENET_DG	14560322, 15522250, 16760922, 20336060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seasonal Affective Disorder	Seasonal affective disorder	Pubtator	20336060	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Separation Anxiety Disorder	Separation Anxiety Disorder	CTD_human_DG	20731709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	15564898		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	20685009		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29575277		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	21615938		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	20629147		★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Tic Disorders, Vocal	Tic disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	8751866	Associate	★☆☆☆☆ Found in Text Mining only
Transient Tic Disorder	Transient Tic Disorder	CTD_human_DG	20731709		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	10483058, 10512150, 16756688, 17938638, 20558238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	25642918, 26974654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations