CNR1 (cannabinoid receptor 1)

Gene

• Entrez ID: 1268
• Gene name: Cannabinoid receptor 1
• Gene symbol: CNR1
• Synonyms (NCBI Gene): CANN6, CB-R, CB1, CB1A, CB1K5, CB1R, CNR
• Chromosome: 6
• Chromosome location: 6q15
• Summary: This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protei

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT438441	hsa-miR-494-3p	Luciferase reporter assay, Western blot	25111814
MIRT755408	hsa-miR-212-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35978628
MIRT901338	hsa-miR-1183	CLIP-seq
MIRT901339	hsa-miR-1225-5p	CLIP-seq
MIRT901340	hsa-miR-132	CLIP-seq
MIRT901341	hsa-miR-194	CLIP-seq
MIRT901342	hsa-miR-212	CLIP-seq
MIRT901343	hsa-miR-214	CLIP-seq
MIRT901344	hsa-miR-29a	CLIP-seq
MIRT901345	hsa-miR-29b	CLIP-seq
MIRT901346	hsa-miR-29c	CLIP-seq
MIRT901347	hsa-miR-3155	CLIP-seq
MIRT901348	hsa-miR-3155b	CLIP-seq
MIRT901349	hsa-miR-323-3p	CLIP-seq
MIRT901350	hsa-miR-3591-5p	CLIP-seq
MIRT901351	hsa-miR-3619-5p	CLIP-seq
MIRT901352	hsa-miR-425	CLIP-seq
MIRT901353	hsa-miR-4473	CLIP-seq
MIRT901354	hsa-miR-4475	CLIP-seq
MIRT901355	hsa-miR-4514	CLIP-seq
MIRT901356	hsa-miR-4522	CLIP-seq
MIRT901357	hsa-miR-4530	CLIP-seq
MIRT901358	hsa-miR-4643	CLIP-seq
MIRT901359	hsa-miR-4671-3p	CLIP-seq
MIRT901360	hsa-miR-4690-5p	CLIP-seq
MIRT901361	hsa-miR-4692	CLIP-seq
MIRT901362	hsa-miR-4693-5p	CLIP-seq
MIRT901363	hsa-miR-4712-5p	CLIP-seq
MIRT901364	hsa-miR-4714-5p	CLIP-seq
MIRT901365	hsa-miR-484	CLIP-seq
MIRT901366	hsa-miR-512-3p	CLIP-seq
MIRT901367	hsa-miR-516a-5p	CLIP-seq
MIRT901368	hsa-miR-520f	CLIP-seq
MIRT901369	hsa-miR-626	CLIP-seq
MIRT901370	hsa-miR-761	CLIP-seq
MIRT901371	hsa-miR-770-5p	CLIP-seq
MIRT901372	hsa-miR-1178	CLIP-seq
MIRT901373	hsa-miR-1279	CLIP-seq
MIRT901374	hsa-miR-134	CLIP-seq
MIRT901375	hsa-miR-1343	CLIP-seq
MIRT901376	hsa-miR-137	CLIP-seq
MIRT901377	hsa-miR-141	CLIP-seq
MIRT901378	hsa-miR-200a	CLIP-seq
MIRT901379	hsa-miR-216a	CLIP-seq
MIRT901380	hsa-miR-216b	CLIP-seq
MIRT901381	hsa-miR-3074-5p	CLIP-seq
MIRT901382	hsa-miR-3118	CLIP-seq
MIRT901383	hsa-miR-3124-3p	CLIP-seq
MIRT901384	hsa-miR-3128	CLIP-seq
MIRT901385	hsa-miR-3136-5p	CLIP-seq
MIRT901350	hsa-miR-3591-5p	CLIP-seq
MIRT901386	hsa-miR-3606	CLIP-seq
MIRT901387	hsa-miR-374c	CLIP-seq
MIRT901388	hsa-miR-4265	CLIP-seq
MIRT901389	hsa-miR-4296	CLIP-seq
MIRT901390	hsa-miR-4318	CLIP-seq
MIRT901391	hsa-miR-4322	CLIP-seq
MIRT901392	hsa-miR-4417	CLIP-seq
MIRT901393	hsa-miR-4439	CLIP-seq
MIRT901394	hsa-miR-4513	CLIP-seq
MIRT901395	hsa-miR-4659a-3p	CLIP-seq
MIRT901396	hsa-miR-4659b-3p	CLIP-seq
MIRT901362	hsa-miR-4693-5p	CLIP-seq
MIRT901397	hsa-miR-4778-3p	CLIP-seq
MIRT901398	hsa-miR-578	CLIP-seq
MIRT901399	hsa-miR-643	CLIP-seq
MIRT901400	hsa-miR-655	CLIP-seq
MIRT901401	hsa-miR-892a	CLIP-seq
MIRT901402	hsa-miR-921	CLIP-seq
MIRT901381	hsa-miR-3074-5p	CLIP-seq
MIRT1967395	hsa-miR-377	CLIP-seq
MIRT2203017	hsa-miR-4700-3p	CLIP-seq
MIRT2203018	hsa-let-7a	CLIP-seq
MIRT2203019	hsa-let-7b	CLIP-seq
MIRT2203020	hsa-let-7c	CLIP-seq
MIRT2203021	hsa-let-7d	CLIP-seq
MIRT2203022	hsa-let-7e	CLIP-seq
MIRT2203023	hsa-let-7f	CLIP-seq
MIRT2203024	hsa-let-7g	CLIP-seq
MIRT2203025	hsa-let-7i	CLIP-seq
MIRT2203026	hsa-miR-1229	CLIP-seq
MIRT2203027	hsa-miR-128	CLIP-seq
MIRT2203028	hsa-miR-151-3p	CLIP-seq
MIRT901341	hsa-miR-194	CLIP-seq
MIRT2203029	hsa-miR-202	CLIP-seq
MIRT2203030	hsa-miR-2116	CLIP-seq
MIRT2203031	hsa-miR-27a	CLIP-seq
MIRT2203032	hsa-miR-27b	CLIP-seq
MIRT2203033	hsa-miR-3187-3p	CLIP-seq
MIRT901349	hsa-miR-323-3p	CLIP-seq
MIRT2203034	hsa-miR-4257	CLIP-seq
MIRT2203035	hsa-miR-4328	CLIP-seq
MIRT2203036	hsa-miR-4435	CLIP-seq
MIRT2203037	hsa-miR-4458	CLIP-seq
MIRT2203038	hsa-miR-4500	CLIP-seq
MIRT901358	hsa-miR-4643	CLIP-seq
MIRT2203039	hsa-miR-4645-5p	CLIP-seq
MIRT901395	hsa-miR-4659a-3p	CLIP-seq
MIRT901396	hsa-miR-4659b-3p	CLIP-seq
MIRT2203040	hsa-miR-4673	CLIP-seq
MIRT2203017	hsa-miR-4700-3p	CLIP-seq
MIRT2203041	hsa-miR-4701-5p	CLIP-seq
MIRT901397	hsa-miR-4778-3p	CLIP-seq
MIRT2203042	hsa-miR-548s	CLIP-seq
MIRT901398	hsa-miR-578	CLIP-seq
MIRT2203043	hsa-miR-588	CLIP-seq
MIRT2203044	hsa-miR-617	CLIP-seq
MIRT2203045	hsa-miR-653	CLIP-seq
MIRT2203046	hsa-miR-890	CLIP-seq
MIRT2203047	hsa-miR-98	CLIP-seq
MIRT2386297	hsa-miR-1289	CLIP-seq
MIRT2386298	hsa-miR-3198	CLIP-seq
MIRT2386299	hsa-miR-4294	CLIP-seq
MIRT2386300	hsa-miR-4309	CLIP-seq
MIRT2386301	hsa-miR-4790-3p	CLIP-seq
MIRT2505992	hsa-miR-3115	CLIP-seq
MIRT2505993	hsa-miR-4735-5p	CLIP-seq
MIRT2505994	hsa-miR-4777-5p	CLIP-seq
MIRT2505995	hsa-miR-518d-5p	CLIP-seq
MIRT2505996	hsa-miR-519b-5p	CLIP-seq
MIRT2505997	hsa-miR-519c-5p	CLIP-seq
MIRT2505998	hsa-miR-520c-5p	CLIP-seq
MIRT2505999	hsa-miR-526a	CLIP-seq
MIRT2506000	hsa-miR-944	CLIP-seq
MIRT2505994	hsa-miR-4777-5p	CLIP-seq
MIRT2505995	hsa-miR-518d-5p	CLIP-seq
MIRT2505996	hsa-miR-519b-5p	CLIP-seq
MIRT2505997	hsa-miR-519c-5p	CLIP-seq
MIRT2505998	hsa-miR-520c-5p	CLIP-seq
MIRT2505999	hsa-miR-526a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
STAT6	Activation	18156315

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002866	Process	Positive regulation of acute inflammatory response to antigenic stimulus	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004949	Function	Cannabinoid receptor activity	IBA	21873635
GO:0004949	Function	Cannabinoid receptor activity	IDA	18761332
GO:0005515	Function	Protein binding	IPI	17356572, 17895407, 20590567, 23296780, 26158621, 28102227, 28734930, 28843453, 29870711, 30073165
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	17895407
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	1718258
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	1718258
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA	18761332
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007283	Process	Spermatogenesis	IEA
GO:0007413	Process	Axonal fasciculation	IEA
GO:0007568	Process	Aging	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0007613	Process	Memory	IEA
GO:0008144	Function	Drug binding	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0014063	Process	Negative regulation of serotonin secretion	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0019222	Process	Regulation of metabolic process	IBA	21873635
GO:0019233	Process	Sensory perception of pain	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031622	Process	Positive regulation of fever generation	IEA
GO:0031999	Process	Negative regulation of fatty acid beta-oxidation	IEA
GO:0032228	Process	Regulation of synaptic transmission, GABAergic	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032592	Component	Integral component of mitochondrial membrane	IEA
GO:0033004	Process	Negative regulation of mast cell activation	IEA
GO:0033602	Process	Negative regulation of dopamine secretion	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0038171	Process	Cannabinoid signaling pathway	IBA	21873635
GO:0038171	Process	Cannabinoid signaling pathway	IDA	17895407
GO:0042220	Process	Response to cocaine	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	20590567, 28734930
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045759	Process	Negative regulation of action potential	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0051001	Process	Negative regulation of nitric-oxide synthase activity	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0060405	Process	Regulation of penile erection	IEA
GO:0098921	Process	Retrograde trans-synaptic signaling by endocannabinoid	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:0099553	Process	Trans-synaptic signaling by endocannabinoid, modulating synaptic transmission	IEA
GO:0099635	Function	Voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels	IEA
GO:0099703	Process	Induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration	IEA

Other IDs

• MIM: 114610
• HGNC: 2159
• e!Ensembl: ENSG00000118432

Protein

• UniProt ID: P21554
• Protein name: Cannabinoid receptor 1 (CB-R) (CB1) (CANN6)
• Protein function: G-protein coupled receptor for endogenous cannabinoids (eCBs), including N-arachidonoylethanolamide (also called anandamide or AEA) and 2-arachidonoylglycerol (2-AG), as well as phytocannabinoids, such as delta(9)-tetrahydrocannabinol (THC) (Pub
• PDB: 1LVQ, 1LVR, 2B0Y, 2KOE, 2MZ2, 2MZ3, 2MZA, 5TGZ, 5U09, 5XR8, 5XRA, 6KPG, 6KQI, 6N4B, 7FEE, 7V3Z, 7WV9, 8GAG, 8GHV, 8IKG, 8IKH, 8K8J, 8WRZ, 8WU1, 9B54, 9B65, 9B9Y, 9B9Z, 9BA0, 9ERX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	133 → 397	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in fetal and adult brain. Expression levels of isoform 2 and isoform 3 are much lower than those of isoform 1. {ECO:0000269|PubMed:15620723}.
• Sequence:

  MKSILDGLADTTFRTITTDLLYVGSNDIQYEDIKGDMASKLGYFPQKFPLTSFRGSPFQE
  KMTAGDNPQLVPADQVNITEFYNKSLSSFKENEENIQCGENFMDIECFMVLNPSQQLAIA
  VLSLTLGTFTVLENLLVLCVILHSRSLRCRPSYHFIGSLAVADLLGSVIFVYSFIDFHVF
  HRKDSRNVFLFKLGGVTASFTASVGSLFLTAIDRYISIHRPLAYKRIVTRPKAVVAFCLM
  WTIAIVIAVLPLLGWNCEKLQSVCSDIFPHIDETYLMFWIGVTSVLLLFIVYAYMYILWK
  AHSHAVRMIQRGTQKSIIIHTSEDGKVQVTRPDQARMDIRLAKTLVLILVVLIICWGPLL
  AIMVYDVFGKMNKLIKTVFAFCSMLCLLNSTVNPIIYALRSKDLRHAFRSMFPSCEGTAQ
  PLDNSMGDSDCLHKHANNAASVHRAAESCIKSTVKIAKVTMSVSTDTSAEAL

• Sequence length: 472

Pathways

KEGG:

Rap1 signaling pathway
Neuroactive ligand-receptor interaction
Thermogenesis
Retrograde endocannabinoid signaling

Reactome:

Class A/1 (Rhodopsin-like receptors)
G alpha (i) signalling events

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs786205019	22034972
Epilepsy	Epilepsy, Temporal Lobe, Uncinate Epilepsy, Epilepsy, Benign Psychomotor, Childhood, Epilepsy, Lateral Temporal	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	20498848
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	28131817
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	12876144
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	18722357
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431	16818650
Rhabdomyosarcoma	Rhabdomyosarcoma	rs137854557, rs121909224, rs63751466, rs11540652, rs28934874, rs104894229, rs104894230, rs267606708, rs80357867, rs276174889, rs80359011, rs80358556, rs80359391, rs80357989, rs886037650, rs886037651, rs201744589, rs587780067, rs587781462, rs587782144, rs55863639, rs768638173, rs864622639, rs875989784, rs876657714, rs878855246, rs199474742, rs879253942, rs886037721, rs1057519989, rs750380279, rs1131691211, rs1202793339, rs1567611375	19509271
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	21513772
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	12954810

Unknown
Disease term	Disease name	Evidence	References	Source
Endometriosis	Endometriosis		20864642	ClinVar
Huntington disease	Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease		20929960	ClinVar
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder		23269207, 22826533, 24180398, 24035826, 25371528, 23407780, 22534181, 20080186, 18579347	ClinVar
Pancreatitis	Pancreatitis		17484889	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	19018721, 6421816
Adenocarcinoma of Lung	Associate	36782138
Adenomyosis	Inhibit	30800671
Adenomyosis	Associate	33531043
AIDS Associated Nephropathy	Associate	34578323
Alcoholism	Associate	35322131
Alzheimer Disease	Associate	22222721, 36189598, 36635346
Alzheimer Disease	Inhibit	33810505
Anhedonia	Associate	22393204
Anorexia Nervosa	Associate	19659925
Anxiety	Associate	24152087, 29145497, 31184938, 31608546
Anxiety Disorders	Associate	23010766, 27346075
Arrhythmogenic Right Ventricular Dysplasia	Associate	30664203
Arthritis Rheumatoid	Associate	18416822
Astrocytoma	Associate	20090845
Atherosclerosis	Associate	21633404
Attention Deficit Disorder with Hyperactivity	Associate	18213623
Bipolar Disorder	Associate	36972648
Bohring syndrome	Associate	22048168
Breast Neoplasms	Associate	34932815, 39527598
Bulimia Nervosa	Associate	19659925
Carcinogenesis	Associate	37700679
Carcinoma Non Small Cell Lung	Associate	32049991
Carcinoma Papillary	Associate	26539529
Carcinoma Renal Cell	Inhibit	20852034
Carcinoma Renal Cell	Associate	29792186
Cardiotoxicity	Associate	35739093
Cardiovascular Diseases	Associate	22567136, 22976112, 25270105
Celiac Disease	Associate	23620805
Chemical and Drug Induced Liver Injury	Associate	36675254
Cocaine Related Disorders	Associate	19052543
Cognition Disorders	Associate	21420833
Colitis Ulcerative	Associate	20195480
Colorectal Neoplasms	Associate	21901119, 35545337
Coronary Disease	Associate	21633404
COVID 19	Stimulate	35580523
Crohn Disease	Associate	20195480, 39652903
Crohn Disease	Inhibit	30787385
Depressive Disorder	Associate	22393204, 29934407, 31185929, 34161225, 37984468
Depressive Disorder Major	Associate	22393204
Diabetes Mellitus	Associate	35580523
Diabetes Mellitus Type 2	Associate	21633404
Diabetes Mellitus Type 2	Stimulate	27858284
Disease	Associate	23620805
Dyslipidemias	Associate	21209828, 27858284
Embolism Fat	Associate	25406988
Encephalitis	Stimulate	21450051
Endometrial Neoplasms	Associate	30800671
Endometriosis	Associate	22789143
Epilepsy	Associate	18354002
Fallopian Tube Diseases	Associate	19093002
Fatty Liver	Associate	20862263, 24704332, 25064094
Fatty Liver	Stimulate	25406988
Fibromyalgia	Associate	21905019
Fibrosis	Associate	20862263, 25064094
Gastroesophageal Reflux	Associate	26337663
Glioma	Associate	16893424
Glioma	Stimulate	22176552
Glioma	Inhibit	35481563
Glucose Metabolism Disorders	Associate	24704332
Haspeslagh Fryns Muelenaere syndrome	Associate	28849159
Headache	Associate	27762084
Heart Failure	Associate	25305179
Hepatitis B	Associate	31981244
Hepatitis B Chronic	Associate	20862263
Hepatitis C Chronic	Associate	20862263
Hereditary leiomyomatosis and renal cell cancer	Associate	24349109
Hodgkin Disease	Associate	24349109
Huntington Disease	Associate	20720046, 29934407, 33097803
Hyperglycemia	Associate	29570673
Hypoadiponectinemia	Associate	21892520
Idiopathic Noncirrhotic Portal Hypertension	Associate	20862263
Immunologic Deficiency Syndromes	Associate	29145497
Inflammation	Associate	20195480, 24391723, 24716593, 25704169, 29444596, 31599069, 34578323
Inflammatory Bowel Diseases	Associate	20195480
Insulin Resistance	Associate	21633404, 24704332, 25935491, 27858284, 29570673
Insulin Resistance	Stimulate	29570673
Irritable Bowel Syndrome	Associate	23306084
Keratosis Seborrheic	Associate	32578480
Leiomyoma	Associate	30842391
Leukemia Lymphocytic Chronic B Cell	Associate	27248492
Leukemia Myeloid Acute	Associate	19805378
Leukoencephalopathies	Associate	21420833, 24391723
Liver Diseases	Associate	20862263
Lymphoma Large B Cell Diffuse	Associate	8396607
Lymphoma Mantle Cell	Associate	19609004, 22048168
Lymphoma T Cell Peripheral	Associate	33036636
Marijuana Abuse	Associate	21420833
Mental Disorders	Associate	18213623, 32433545
Migraine Disorders	Associate	27762084, 29145497
Mitochondrial Diseases	Associate	23441106
Mood Disorders	Associate	36972648
Mouth Diseases	Stimulate	35692500
Multiple Sclerosis	Associate	21251115, 24391723, 25169051, 25704169
Mycosis Fungoides	Associate	8396607
Nausea	Associate	27762084
Neoplasms	Associate	16893424, 21203460, 21901119, 24349109, 27248492, 32049991, 35955786
Neoplasms	Inhibit	20852034
Nerve Degeneration	Associate	22222721, 24391723
Neurobehavioral Manifestations	Associate	29934407
Neuroblastoma	Associate	19690173, 23034519, 37545226
Neurocognitive Disorders	Associate	21420833
Neurodegenerative Diseases	Stimulate	21214565
Neurodegenerative Diseases	Associate	22222721
Neurofibromatosis Noonan syndrome	Associate	20606244
Neuroinflammatory Diseases	Stimulate	21214565
Neuroinflammatory Diseases	Associate	25704169
Non alcoholic Fatty Liver Disease	Associate	24716593, 25406988, 36675254
Non alcoholic Fatty Liver Disease	Stimulate	24864249
Obesity	Associate	16634642, 18776593, 20107430, 21209828, 21477106, 22976112, 26633590, 27858284, 31608546, 32732136, 33097803
Obesity Abdominal	Associate	18776593
Obesity Metabolically Benign	Associate	19018721
Obsessive Compulsive Disorder	Associate	16634642
Optic Nerve Glioma	Associate	20090845
Optic Neuritis	Associate	24391723
Osteoarthritis	Associate	18416822, 27082728, 29444596
Osteolysis Essential	Associate	39940911
Ovarian Diseases	Associate	35692500
Overtraining Syndrome	Associate	25305179
Overweight	Associate	21477106
Pain	Associate	29145497, 33097803
Parkinson Disease	Inhibit	21459482
Parkinson Disease	Associate	29352424, 33097803
Periodontitis	Associate	31599069
Personality Disorders	Associate	33462180
Polycystic Ovary Syndrome	Associate	24971918, 25093427
Polycystic Ovary Syndrome	Stimulate	25935491
Postoperative Nausea and Vomiting	Associate	20505775
Pregnancy Ectopic	Associate	19093002
Pregnancy Ectopic	Inhibit	19093002
Prostatic Neoplasms	Associate	21203460, 21802006, 24913716
Sarcoma Ewing	Associate	39940911
Schizophrenia	Associate	20107430, 21420833, 32249318, 32433545
Skin Diseases	Associate	35393522
Sleep Wake Disorders	Associate	29145497
Squamous Cell Carcinoma of Head and Neck	Associate	26459312
Stiff Person Syndrome	Associate	23010766
Stress Disorders Post Traumatic	Associate	18213623
Substance Related Disorders	Associate	19052543, 31608546, 32433545, 35322131, 36972648
Tendinopathy	Associate	21931835
Thyroid Cancer Papillary	Associate	37700679
Thyroid Diseases	Associate	26539529
Urinary Bladder Neoplasms	Associate	28191815
Weight Gain	Associate	20107430, 21209828, 22567136, 23799528
Weight Loss	Associate	20107430, 22567136
Wounds and Injuries	Associate	24820537