DRD2 (dopamine receptor D2)

Gene

• Entrez ID: 1813
• Gene name: Dopamine receptor D2
• Gene symbol: DRD2
• Synonyms (NCBI Gene): D2DR, D2R
• Chromosome: 11
• Chromosome location: 11q23.2
• Summary: This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1076560	C>A,G	Likely-benign, drug-response	Intron variant
rs1800496	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437986	hsa-miR-9-5p	Luciferase reporter assay	24675081
MIRT437986	hsa-miR-9-5p	Luciferase reporter assay	24675081
MIRT945332	hsa-miR-1285	CLIP-seq
MIRT945333	hsa-miR-1291	CLIP-seq
MIRT945334	hsa-miR-1827	CLIP-seq
MIRT945335	hsa-miR-2467-3p	CLIP-seq
MIRT945336	hsa-miR-2682	CLIP-seq
MIRT945337	hsa-miR-296-5p	CLIP-seq
MIRT945338	hsa-miR-3187-5p	CLIP-seq
MIRT945339	hsa-miR-3190	CLIP-seq
MIRT945340	hsa-miR-3202	CLIP-seq
MIRT945341	hsa-miR-326	CLIP-seq
MIRT945342	hsa-miR-330-5p	CLIP-seq
MIRT945343	hsa-miR-345	CLIP-seq
MIRT945344	hsa-miR-34a	CLIP-seq
MIRT945345	hsa-miR-34c-5p	CLIP-seq
MIRT945346	hsa-miR-378g	CLIP-seq
MIRT945347	hsa-miR-4261	CLIP-seq
MIRT945348	hsa-miR-4486	CLIP-seq
MIRT945349	hsa-miR-4490	CLIP-seq
MIRT945350	hsa-miR-449a	CLIP-seq
MIRT945351	hsa-miR-449b	CLIP-seq
MIRT945352	hsa-miR-449c	CLIP-seq
MIRT945353	hsa-miR-4533	CLIP-seq
MIRT945354	hsa-miR-4666-5p	CLIP-seq
MIRT945355	hsa-miR-4699-3p	CLIP-seq
MIRT945356	hsa-miR-4732-3p	CLIP-seq
MIRT945357	hsa-miR-4747-5p	CLIP-seq
MIRT945358	hsa-miR-4774-5p	CLIP-seq
MIRT945359	hsa-miR-4802-3p	CLIP-seq
MIRT945360	hsa-miR-512-5p	CLIP-seq
MIRT945361	hsa-miR-612	CLIP-seq
MIRT945362	hsa-miR-622	CLIP-seq
MIRT945336	hsa-miR-2682	CLIP-seq
MIRT945339	hsa-miR-3190	CLIP-seq
MIRT945363	hsa-miR-3199	CLIP-seq
MIRT945340	hsa-miR-3202	CLIP-seq
MIRT945344	hsa-miR-34a	CLIP-seq
MIRT945345	hsa-miR-34c-5p	CLIP-seq
MIRT945347	hsa-miR-4261	CLIP-seq
MIRT945364	hsa-miR-4278	CLIP-seq
MIRT945365	hsa-miR-4480	CLIP-seq
MIRT945350	hsa-miR-449a	CLIP-seq
MIRT945351	hsa-miR-449b	CLIP-seq
MIRT945352	hsa-miR-449c	CLIP-seq
MIRT945366	hsa-miR-4515	CLIP-seq
MIRT945353	hsa-miR-4533	CLIP-seq
MIRT945367	hsa-miR-4652-5p	CLIP-seq
MIRT945368	hsa-miR-4716-3p	CLIP-seq
MIRT945357	hsa-miR-4747-5p	CLIP-seq
MIRT945369	hsa-miR-9	CLIP-seq
MIRT2215049	hsa-miR-1252	CLIP-seq
MIRT2215050	hsa-miR-185	CLIP-seq
MIRT2215051	hsa-miR-3125	CLIP-seq
MIRT2215052	hsa-miR-3916	CLIP-seq
MIRT2215053	hsa-miR-4306	CLIP-seq
MIRT2215054	hsa-miR-4644	CLIP-seq
MIRT2215055	hsa-miR-4753-5p	CLIP-seq
MIRT2215056	hsa-miR-4768-3p	CLIP-seq
MIRT2519492	hsa-miR-3150b-3p	CLIP-seq
MIRT945344	hsa-miR-34a	CLIP-seq
MIRT945345	hsa-miR-34c-5p	CLIP-seq
MIRT945350	hsa-miR-449a	CLIP-seq
MIRT945351	hsa-miR-449b	CLIP-seq
MIRT2519493	hsa-miR-4689	CLIP-seq
MIRT2519494	hsa-miR-4784	CLIP-seq
MIRT2519492	hsa-miR-3150b-3p	CLIP-seq
MIRT945344	hsa-miR-34a	CLIP-seq
MIRT945345	hsa-miR-34c-5p	CLIP-seq
MIRT945350	hsa-miR-449a	CLIP-seq
MIRT945351	hsa-miR-449b	CLIP-seq
MIRT2519493	hsa-miR-4689	CLIP-seq
MIRT2519494	hsa-miR-4784	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	17317773;18354387
RELA	Unknown	17317773;18354387

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IBA	21873635
GO:0001591	Function	Dopamine neurotransmitter receptor activity, coupled via Gi/Go	IDA	8301582
GO:0001659	Process	Temperature homeostasis	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	IEA
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001975	Process	Response to amphetamine	ISS
GO:0001976	Process	Nervous system process involved in regulation of systemic arterial blood pressure	ISS
GO:0002027	Process	Regulation of heart rate	ISS
GO:0002028	Process	Regulation of sodium ion transport	ISS
GO:0002031	Process	G protein-coupled receptor internalization	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	ISS
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10692483, 17380124, 19632986, 23296780, 23624386, 23637801, 28734930, 29568380
GO:0005886	Component	Plasma membrane	IDA	26554819
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	8413587
GO:0005929	Component	Cilium	IDA	28154160
GO:0006914	Process	Autophagy	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007194	Process	Negative regulation of adenylate cyclase activity	IBA	21873635
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IBA	21873635
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IDA	8666994, 26554819
GO:0007270	Process	Neuron-neuron synaptic transmission	ISS
GO:0007409	Process	Axonogenesis	ISS
GO:0007416	Process	Synapse assembly	ISS
GO:0007608	Process	Sensory perception of smell	ISS
GO:0007616	Process	Long-term memory	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0007628	Process	Adult walking behavior	ISS
GO:0008104	Process	Protein localization	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0008306	Process	Associative learning	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009416	Process	Response to light stimulus	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0014059	Process	Regulation of dopamine secretion	IBA	21873635
GO:0014069	Component	Postsynaptic density	IEA
GO:0014854	Process	Response to inactivity	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021769	Process	Orbitofrontal cortex development	IEA
GO:0021853	Process	Cerebral cortex GABAergic interneuron migration	ISS
GO:0021984	Process	Adenohypophysis development	ISS
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030432	Process	Peristalsis	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031223	Process	Auditory behavior	IEA
GO:0032147	Process	Activation of protein kinase activity	IEA
GO:0032228	Process	Regulation of synaptic transmission, GABAergic	ISS
GO:0032467	Process	Positive regulation of cytokinesis	IMP	22888021
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0033602	Process	Negative regulation of dopamine secretion	IEA
GO:0034776	Process	Response to histamine	IDA	16839358
GO:0035094	Process	Response to nicotine	IEA
GO:0035240	Function	Dopamine binding	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0035810	Process	Positive regulation of urine volume	IEA
GO:0035815	Process	Positive regulation of renal sodium excretion	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0042220	Process	Response to cocaine	ISS
GO:0042321	Process	Negative regulation of circadian sleep/wake cycle, sleep	IEA
GO:0042417	Process	Dopamine metabolic process	IC	8301582
GO:0042493	Process	Response to drug	ISS
GO:0042756	Process	Drinking behavior	IEA
GO:0042802	Function	Identical protein binding	IPI	18668123, 23624386, 23637801, 28734930
GO:0043197	Component	Dendritic spine	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043266	Process	Regulation of potassium ion transport	IBA	21873635
GO:0043266	Process	Regulation of potassium ion transport	ISS
GO:0043278	Process	Response to morphine	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0043666	Process	Regulation of phosphoprotein phosphatase activity	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045745	Process	Positive regulation of G protein-coupled receptor signaling pathway	IEA
GO:0045776	Process	Negative regulation of blood pressure	ISS
GO:0045824	Process	Negative regulation of innate immune response	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046717	Process	Acid secretion	IEA
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0048149	Process	Behavioral response to ethanol	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	ISS
GO:0048678	Process	Response to axon injury	IEA
GO:0048755	Process	Branching morphogenesis of a nerve	ISS
GO:0050482	Process	Arachidonic acid secretion	IDA	8301582
GO:0050709	Process	Negative regulation of protein secretion	IDA	16839358
GO:0051209	Process	Release of sequestered calcium ion into cytosol	ISS
GO:0051481	Process	Negative regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0051482	Process	Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IBA	21873635
GO:0051584	Process	Regulation of dopamine uptake involved in synaptic transmission	IC	8301582
GO:0051586	Process	Positive regulation of dopamine uptake involved in synaptic transmission	ISS
GO:0051823	Process	Regulation of synapse structural plasticity	IEA
GO:0051898	Process	Negative regulation of protein kinase B signaling	ISS
GO:0051898	Process	Negative regulation of protein kinase B signaling	NAS	21711983
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IBA	21873635
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	ISS
GO:0060079	Process	Excitatory postsynaptic potential	NAS	21711983
GO:0060124	Process	Positive regulation of growth hormone secretion	ISS
GO:0060134	Process	Prepulse inhibition	ISS
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IBA	21873635
GO:0060158	Process	Phospholipase C-activating dopamine receptor signaling pathway	IGI	17194762
GO:0060160	Process	Negative regulation of dopamine receptor signaling pathway	ISS
GO:0060170	Component	Ciliary membrane	IDA	20531939
GO:0060548	Process	Negative regulation of cell death	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA	21873635
GO:0090325	Process	Regulation of locomotion involved in locomotory behavior	IEA
GO:0097730	Component	Non-motile cilium	IDA	20531939
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IBA	21873635
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IBA	21873635
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:1900168	Process	Positive regulation of glial cell-derived neurotrophic factor production	IDA	23373701
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	IBA	21873635
GO:1990384	Process	Hyaloid vascular plexus regression	ISS
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 126450
• HGNC: 3023
• e!Ensembl: ENSG00000149295

Protein

• UniProt ID: P14416
• Protein name: D(2) dopamine receptor (Dopamine D2 receptor)
• Protein function: Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase (PubMed:21645528). Positively regulates postnatal regression of retinal hyaloid vessels via suppression of VEGFR2/KDR activity, downstream of OPN5 (By simi
• PDB: 5AER, 6CM4, 6LUQ, 6VMS, 7DFP, 7JVR, 8IRS, 8TZQ, 8U02
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	51 → 426	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in the anterior pituitary gland. {ECO:0000269|PubMed:2531656}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in the anterior pituitary gland. {ECO:0000269|PubMed:2531656}.
• Sequence:

  MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVS
  REKALQTTTNYLIVSLAVADLLVATLVMPWVVYLEVVGEWKFSRIHCDIFVTLDVMMCTA
  SILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVWVLSFTISCPLLFGLNNADQN
  ECIIANPAFVVYSSIVSFYVPFIVTLLVYIKIYIVLRRRRKRVNTKRSSRAFRAHLRAPL
  KGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPP
  SHHQLTLPDPSHHGLHSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSR
  RKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSA
  VNPIIYTTFNIEFRKAFLKILHC

• Sequence length: 443

Pathways

KEGG:

Rap1 signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Gap junction
Dopaminergic synapse
Parkinson disease
Cocaine addiction
Alcoholism

Reactome:

Dopamine receptors

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	17671965
Hyperprolactinemia	Hyperprolactinemia	rs398122522, rs376188691, rs754974807	19339912, 15286066
Hypertension	Hypertensive disease	rs13306026	11566895
Myoclonic dystonia	Myoclonic dystonia	rs121908489, rs121908490, rs863223283, rs121908491, rs863223284, rs1584531843, rs121908492, rs863223285, rs398123812, rs786205860, rs794727794, rs886039595, rs1057517990, rs1057519246, rs1189469219, rs1064794321, rs1064797339, rs1554352819, rs1554355416, rs1554353106, rs1554345052, rs1554352952, rs1554358727, rs1554352906, rs1554345077, rs1554345162, rs1554345170, rs1562806242, rs1562805960, rs1562812370, rs1562853011, rs1562811414, rs1584637958, rs1584663425, rs1584663290, rs1584546131, rs372686312, rs1584546494, rs1584692239, rs1584700882, rs1584546238, rs1799563986
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	15469457, 12476322, 9171869, 8558425
Pituitary adenoma	Pituitary Adenoma	rs5030861, rs104894194, rs121908356, rs121908347, rs727502931, rs121908348, rs121908349, rs111033271, rs121908351, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682, rs587776683, rs121917842, rs121917843, rs121917844, rs121917845, rs11554273, rs121913495, rs121913494, rs137854533, rs140016178, rs397517323, rs397517327, rs397517329, rs397517341, rs397517342, rs183431253, rs397517350, rs370983472, rs397517367, rs794726693, rs727502919, rs766673446, rs786204663, rs1556379508, rs876657754, rs773464867, rs878853337, rs886037871, rs762529663, rs1057517027, rs1057517041, rs1057516832, rs1057517424, rs1057516846, rs1057524265, rs1060499789, rs750803248, rs1064797071, rs756147087, rs758382198, rs750880909, rs1554877806, rs769433759, rs1474524543, rs866435331, rs936479651, rs146918863, rs1554182514, rs1436089021, rs1554182507, rs1554182481, rs1554182645, rs1554182405, rs1554182632, rs747955135, rs745571683, rs1190307769, rs1564808024, rs1214465435, rs1589424694, rs1200012430, rs1377982927, rs1230303971, rs750027965, rs1292050472, rs1278603247, rs1862873659, rs1338446830, rs771766431, rs759981467, rs780917129, rs1221464948, rs1166948274, rs754876029, rs762805265	12727942
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	11245917, 21187413, 18583979, 10831489
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	1829682, 7936204, 11860278

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder, Major depression, single episode, Unipolar Depression, Recurrent depression, Major Depressive Disorder		23683269, 21540761, 24780147, 23512949, 20526230, 11728608, 23696934, 24555772, 24322206, 22796099, 1385598, 29942085	ClinVar
Neuroticism	Neuroticism			GWAS
Bipolar Disorder	Bipolar Disorder			GWAS
Anxiety Disorder	Anxiety Disorder			GWAS
Lymphocytic Leukemia	Lymphocytic Leukemia			GWAS
Mental Depression	Mental Depression			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	26370377
ACTH Secreting Pituitary Adenoma	Associate	19318729, 26607296
Adenoma	Associate	19065655, 25536318, 26607296
Adenoma Islet Cell	Stimulate	18981718
AIDS Associated Nephropathy	Associate	24078558
Alcohol Withdrawal Delirium	Associate	23238469
Alcohol Withdrawal Seizures	Associate	23238469
Alcoholism	Associate	17476365, 19900188, 20146828, 22848508, 23238469, 23670889, 24634060, 24636783, 25053368, 29483278
Alzheimer Disease	Associate	19204262
Anhedonia	Associate	27886638
Anorexia Nervosa	Associate	30519816
Antisocial Personality Disorder	Associate	23891037, 26664790, 28582390
Anxiety	Associate	12957328, 18305461, 20526230, 28969474, 31948125, 32588603, 33631331, 36078646, 9513185
Anxiety Disorders	Associate	9513185
Arthropathy progressive pseudorheumatoid of childhood	Associate	25027022
Astrocytoma	Associate	31478179
Ataxia Telangiectasia	Associate	1975092
Atrophy	Associate	34086098
Attention Deficit and Disruptive Behavior Disorders	Associate	29716536
Attention Deficit Disorder with Hyperactivity	Associate	22832519, 24163823, 24410775, 24780147, 25271118, 26307064, 28237458, 29716536, 34853389, 35405990, 37578679
Auditory Perceptual Disorders	Associate	24780147
Autism Spectrum Disorder	Associate	22559203, 24780147
Autistic Disorder	Associate	22559203, 24453887, 28470827
Basal Ganglia Diseases	Inhibit	32966590
Bipolar Disorder	Associate	24229495, 27063557, 28751646, 31676688, 37252880
Borderline Personality Disorder	Associate	20205808
Brain Injuries	Associate	25931179
Brain Injuries Traumatic	Associate	18698520, 24849661, 25931179, 27826691
Breast Neoplasms	Associate	12712467, 34979978, 40425926
Breast Neoplasms	Stimulate	25556472
Bulimia	Associate	30253082
Burning Mouth Syndrome	Associate	30793423
Carcinoid Tumor	Stimulate	18981718
Carcinoma Basal Cell	Associate	30123056
Chronic Pain	Associate	36043564
Chronobiology Disorders	Associate	24780147
Cocaine Related Disorders	Associate	24078558
Cognition Disorders	Associate	22525159, 24078558, 26307064, 27826691, 28869277
Cognitive Dysfunction	Associate	38359585
Colorectal Neoplasms	Associate	19065655, 30016783
Communication Disorders	Associate	24849541
Congenital bilateral aplasia of vas deferens	Associate	18305461
Cutaneous Fistula	Associate	29716536
Cystitis Interstitial	Associate	30973927
Delusional Parasitosis	Associate	18719332, 19204262
Dementia	Associate	29564530, 35044623, 38359585
Demyelinating Autoimmune Diseases CNS	Associate	27908295
Depressive Disorder	Associate	12957328, 18831910, 20526230, 24780147, 30718454, 31185074, 31676688, 33631331, 37563671, 40226707, 9513185
Depressive Disorder Major	Associate	9513185
Diabetes Mellitus	Associate	31766642
Diabetes Mellitus Type 1	Associate	31601695
Diabetes Mellitus Type 2	Associate	18834717, 37563671, 38034011
DiGeorge Syndrome	Associate	30935427
Disruptive Impulse Control and Conduct Disorders	Associate	23828101, 24749760, 25896831, 29716536, 32710539
Dizziness	Associate	31356223
Drug Related Side Effects and Adverse Reactions	Associate	29216597
Dyskinesia Drug Induced	Associate	16959057, 29191473, 32931693
Dyskinesia Drug Induced	Inhibit	32966590
Dyslexia	Associate	25178928, 37667328
Dyslexia Acquired	Associate	24849541
Dyspepsia	Associate	25698263
Dystonia	Associate	10220438
Dystonia 3 Torsion X Linked	Associate	16366515
Endometrial Neoplasms	Associate	36899615, 37437489
Familial medullary thyroid carcinoma	Stimulate	35203352
Fatigue	Associate	34979978
Feeding and Eating Disorders	Associate	22366823, 23670889, 32090582
Fibrosis	Associate	25801876
Gait Disorders Neurologic	Associate	29249680
Gastro enteropancreatic neuroendocrine tumor	Associate	26836610
Gastroesophageal Reflux	Associate	40226707
Gastroparesis	Associate	33462988
general anxiety disorder	Associate	9513185
Glioblastoma	Associate	30559168, 32830856, 33806345, 36972629
Glioma	Associate	31456142
Growth Hormone Secreting Pituitary Adenoma	Associate	26607296
Heroin Dependence	Associate	31025317
HIV Infections	Associate	24078558, 25053368, 26307064
Huntington Disease	Associate	16366515, 9010012
Hyperphagia	Associate	36805080
Hyperprolactinemia	Associate	16169407, 19339912, 31520576
Hypertension	Associate	25801876
Hypotension	Associate	7760324
Immunologic Deficiency Syndromes	Associate	24636783
Inflammation	Associate	25801876
Inflammation	Inhibit	26808524
Insulin Resistance	Associate	29369497
Irritable Bowel Syndrome	Associate	40226707
Language Disorders	Associate	24849541
Learning Disabilities	Associate	19900188
Leiomyoma	Associate	19176223, 34440356
Leukemia	Associate	30093531, 33665638
Leukemia Myeloid Acute	Associate	30093531, 33665638
Leukodystrophy Metachromatic	Associate	18831910
Lung Neoplasms	Associate	27121382, 30123056
Lymphoma Large B Cell Diffuse	Associate	18288132
Major Affective Disorder 2	Associate	7760324
Marijuana Abuse	Associate	22745721
Melanoma	Associate	23947671
Memory Disorders	Associate	35405990
Meningioma	Associate	25742638
Mental Disorders	Associate	10023512, 10088049, 10220438, 19900188, 22487365, 27908295, 28582390, 29716536, 29737821, 29795192, 31025317, 32005270, 34853389, 35367652, 36805080, 37015728, 9513185, 9693029
Metabolic Diseases	Associate	35893053
Metabolic Syndrome	Associate	35893053
Migraine Disorders	Associate	17563839
Migraine with Aura	Associate	9513185
Mood Disorders	Associate	10220438
Motor Disorders	Associate	33881537
Muscle Rigidity	Associate	18389501
Myoclonic dystonia	Associate	10220438, 15258227
Neoplasm Invasiveness	Associate	30123056
Neoplasm Metastasis	Associate	30123056
Neoplasms	Associate	18288132, 18981718, 23128675, 23291436, 30123056, 30204798, 30559168, 31478179, 33491286, 35721701, 37437489, 8707952
Neoplasms	Stimulate	35593650
Nerve Degeneration	Associate	35062349
Nervous System Diseases	Associate	27883923
Neuroblastoma	Associate	10617149
Neuroendocrine Tumors	Associate	40551554
Neurofibromatosis 2	Associate	35721701
Neuroleptic Malignant Syndrome	Associate	20305604
Neurologic Manifestations	Associate	21205584, 24682224, 26516769
Neurotoxicity Syndromes	Associate	33881537
Obesity	Associate	12582223, 17907820, 18834717, 20561550, 22366823, 22848508, 23032305, 23670889, 23917806, 24283216, 26354923, 26445370, 27241797, 29317597, 29737821, 30269448, 35564336, 39336728, 39940809
Obesity Abdominal	Inhibit	26808524
Obsessive Compulsive Disorder	Associate	16427255, 36641432
Opioid Related Disorders	Associate	23670889, 24078558, 37252880
Orofacial Cleft 1	Associate	25271118
Osteoarthritis	Associate	32184581
Osteoarthropathy Primary Hypertrophic	Associate	34151861
Overweight	Associate	23828101, 26445370
Pain	Associate	30793423, 36395102
Panic Disorder	Associate	9513185
Parkinson Disease	Associate	10990520, 17147698, 19476502, 21663922, 24749760, 25896831, 26961748, 28869277, 29249680, 29466326, 29541577
Parkinson Disease	Inhibit	33348472
Parkinson Disease Secondary	Associate	18389501, 35411010
Personality Disorders	Associate	35405990
Pheochromocytoma	Associate	31478179
Phobia Social	Associate	28377075
Phobic Disorders	Associate	9513185
Pituitary ACTH Hypersecretion	Inhibit	19318729
Pituitary Neoplasms	Associate	25027022, 25536318
Pleoconial Myopathy with Salt Craving	Associate	23670889, 27222427
Polycystic Ovary Syndrome	Associate	37563671
Polyps	Associate	19065655
Postoperative Nausea and Vomiting	Associate	27803457
Prolactinoma	Associate	35721701
Prostatic Neoplasms	Associate	30204798
Psychoses Substance Induced	Associate	22525159
Psychotic Disorders	Associate	22525159, 24682224, 27886638, 30546022, 31676688, 37015728
Renal Insufficiency Chronic	Associate	18366720
Retinitis	Associate	35544697
Schizophrenia	Associate	15920292, 18831910, 19204262, 22525159, 24636783, 27021555, 27241797, 27254804, 28548579, 29032150, 29791666, 30546022, 34853389, 35062349, 35893053, 36319771, 36641432
Schizophrenia Treatment Resistant	Associate	36980961
Seizures	Associate	23238469
Sleep Deprivation	Associate	28393838, 29167485
Sleep Initiation and Maintenance Disorders	Associate	12957328, 33631331
Sleep Wake Disorders	Associate	23828101, 28393838, 30793423, 33167416
Sleepiness	Associate	28393838
Smoke Inhalation Injury	Associate	19842028, 23128675
Social Communication Disorder	Associate	12957328
Speech Sound Disorder	Associate	24849541
Stomach Neoplasms	Associate	31164161
Stress Disorders Post Traumatic	Associate	12957328, 19900188, 34086098
Stuttering	Associate	25178928
Substance Related Disorders	Associate	10023512, 18834717, 19900188, 23670889, 24078558, 24634060, 24636783, 25053368, 26354923, 31185074, 35564336, 36078646, 36805080
Substance Withdrawal Syndrome	Associate	23238469
Syndrome	Associate	36011589
Tardive Dyskinesia	Associate	22615781
Temporomandibular Joint Disorders	Associate	36043564
Tics	Associate	27883923
Tobacco Use Disorder	Associate	19842028
Tourette Syndrome	Associate	27883923
Tremor	Associate	22615781
Urinary Bladder Neoplasms	Associate	19842028
Vitreoretinopathy Proliferative	Associate	35544697
Weight Gain	Associate	17135598, 20116437, 24283216, 26445370
Weight Loss	Associate	24283216, 33236485