ADCY8 (adenylate cyclase 8)

Gene

• Entrez ID: 114
• Gene name: Adenylate cyclase 8
• Gene symbol: ADCY8
• Synonyms (NCBI Gene): AC8, ADCY3, HBAC1
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor t

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003779	Function	Actin binding	ISS
GO:0004016	Function	Adenylate cyclase activity	IBA	21873635
GO:0004016	Function	Adenylate cyclase activity	TAS
GO:0005516	Function	Calmodulin binding	ISS
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005901	Component	Caveola	ISS
GO:0005905	Component	Clathrin-coated pit	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	8076676
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS
GO:0007190	Process	Activation of adenylate cyclase activity	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	ISS
GO:0007611	Process	Learning or memory	TAS	8076676
GO:0007613	Process	Memory	ISS
GO:0007616	Process	Long-term memory	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0008294	Function	Calcium- and calmodulin-responsive adenylate cyclase activity	ISS
GO:0010255	Process	Glucose mediated signaling pathway	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
GO:0032793	Process	Positive regulation of CREB transcription factor activity	ISS
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034199	Process	Activation of protein kinase A activity	ISS
GO:0034199	Process	Activation of protein kinase A activity	TAS
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0038003	Process	Opioid receptor signaling pathway	ISS
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0044853	Component	Plasma membrane raft	ISS
GO:0045121	Component	Membrane raft	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	ISS
GO:0048786	Component	Presynaptic active zone	ISS
GO:0051259	Process	Protein complex oligomerization	ISS
GO:0051260	Process	Protein homooligomerization	ISS
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	ISS
GO:0051721	Function	Protein phosphatase 2A binding	ISS
GO:0060076	Component	Excitatory synapse	ISS
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071315	Process	Cellular response to morphine	ISS
GO:0071333	Process	Cellular response to glucose stimulus	ISS
GO:0071377	Process	Cellular response to glucagon stimulus	ISS
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:0080135	Process	Regulation of cellular response to stress	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:0150076	Process	Neuroinflammatory response	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1900454	Process	Positive regulation of long-term synaptic depression	ISS
GO:1904322	Process	Cellular response to forskolin	ISS

Other IDs

• MIM: 103070
• HGNC: 239
• e!Ensembl: ENSG00000155897

Protein

• UniProt ID: P40145
• Protein name: Adenylate cyclase type 8 (EC 4.6.1.1) (ATP pyrophosphate-lyase 8) (Adenylate cyclase type VIII) (Adenylyl cyclase 8) (AC8) (Ca(2+)/calmodulin-activated adenylyl cyclase)
• Protein function: Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion. Plays a role in many brain functions, such as learning, memory, drug add
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16214	AC_N	137 → 401	Adenylyl cyclase N-terminal extracellular and transmembrane region	Family
  PF00211	Guanylate_cyc	405 → 589	Adenylate and Guanylate cyclase catalytic domain	Domain
  PF06327	DUF1053	617 → 712	Domain of Unknown Function (DUF1053)	Family
  PF00211	Guanylate_cyc	973 → 1172	Adenylate and Guanylate cyclase catalytic domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain cortex (PubMed:1715695). Expressed in islet (PubMed:25403481). {ECO:0000269|PubMed:1715695, ECO:0000269|PubMed:25403481}.
• Sequence:

  MELSDVRCLTGSEELYTIHPTPPAGDGRSASRPQRLLWQTAVRHITEQRFIHGHRGGSGS
  GSGGSGKASDPAGGGPNHHAPQLSGDSALPLYSLGPGERAHSTCGTKVFPERSGSGSASG
  SGGGGDLGFLHLDCAPSNSDFFLNGGYSYRGVIFPTLRNSFKSRDLERLYQRYFLGQRRK
  SEVVMNVLDVLTKLTLLVLHLSLASAPMDPLKGILLGFFTGIEVVICALVVVRKDTTSHT
  YLQYSGVVTWVAMTTQILAAGLGYGLLGDGIGYVLFTLFATYSMLPLPLTWAILAGLGTS
  LLQVILQVVIPRLAVISINQVVAQAVLFMCMNTAGIFISYLSDRAQRQAFLETRRCVEAR
  LRLETENQRQERLVLSVLPRFVVLEMINDMTNVEDEHLQHQFHRIYIHRYENVSILFADV
  KGFTNLSTTLSAQELVRMLNELFARFDRLAHEHHCLRIKILGDCYYCVSGLPEPRQDHAH
  CCVEMGLSMIKTIRYVRSRTKHDVDMRIGIHSGSVLCGVLGLRKWQFDVWSWDVDIANKL
  ESGGIPGRIHISKATLDCLNGDYNVEEGHGKERNEFLRKHNIETYLIKQPEDSLLSLPED
  IVKESVSSSDRRNSGATFTEGSWSPELPFDNIVGKQNTLAALTRNSINLLPNHLAQALHV
  QSGPEEINKRIEHTIDLRSGDKLRREHIKPFSLMFKDSSLEHKYSQMRDEVFKSNLVCAF
  IVLLFITAIQSLLPSSRVMPMTIQFSILIMLHSALVLITTAEDYKCLPLILRKTCCWINE
  TYLARNVIIFASILINFLGAILNILWCDFDKSIPLKNLTFNSSAVFTDICSYPEYFVFTG
  VLAMVTCAVFLRLNSVLKLAVLLIMIAIYALLTETVYAGLFLRYDNLNHSGEDFLGTKEV
  SLLLMAMFLLAVFYHGQQLEYTARLDFLWRVQAKEEINEMKELREHNENMLRNILPSHVA
  RHFLEKDRDNEELYSQSYDAVGVMFASIPGFADFYSQTEMNNQGVECLRLLNEIIADFDE
  LLGEDRFQDIEKIKTIGSTYMAVSGLSPEKQQCEDKWGHLCALADFSLALTESIQEINKH
  SFNNFELRIGISHGSVVAGVIGAKKPQYDIWGKTVNLASRMDSTGVSGRIQVPEETYLIL
  KDQGFAFDYRGEIYVKGISEQEGKIKTYFLLGRVQPNPFILPPRRLPGQYSLAAVVLGLV
  QSLNRQRQKQLLNENNNTGIIKGHYNRRTLLSPSGTEPGAQAEGTDKSDLP

• Sequence length: 1251

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Endocrine resistance
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Oocyte meiosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
GABAergic synapse
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Oxytocin signaling pathway
Regulation of lipolysis in adipocytes
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Growth hormone synthesis, secretion and action
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Bile secretion
Morphine addiction
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Dilated cardiomyopathy

Reactome:

Glucagon signaling in metabolic regulation
PKA activation
PKA activation in glucagon signalling
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
G alpha (s) signalling events
G alpha (z) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Hedgehog 'off' state
ADORA2B mediated anti-inflammatory cytokines production
FCGR3A-mediated IL10 synthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Duchenne muscular dystrophy	Muscular Dystrophy, Duchenne	rs128625226, rs128625227, rs128625228, rs128625229, rs2147483647, rs104894787, rs128625230, rs128626234, rs201366610, rs267606770, rs128626235, rs128626231, rs146071084, rs128626232, rs104894788, rs128626233, rs128626238, rs128626239, rs128626240, rs128626241, rs1556834513, rs128626242, rs128626243, rs128626244, rs128626245, rs128626246, rs128626247, rs128626248, rs128626249, rs128626250, rs128626251, rs128626252, rs128626253, rs128626254, rs104894790, rs104894797, rs5030730, rs1569528138, rs587776747, rs128627256, rs128627257, rs398122853, rs398123827, rs398123828, rs398123832, rs398123833, rs398123834, rs398123835, rs398123838, rs398123839, rs398123846, rs398123852, rs398123853, rs72468700, rs398123856, rs398123862, rs398123863, rs398123865, rs398123866, rs398123870, rs398123872, rs398123873, rs398123881, rs398123882, rs398123883, rs398123884, rs398123885, rs398123887, rs398123888, rs398123889, rs398123892, rs398123893, rs398123901, rs398123903, rs398123905, rs398123909, rs398123912, rs398123915, rs398123919, rs398123920, rs398123923, rs398123929, rs398123934, rs398123935, rs398123937, rs398123938, rs398123942, rs398123948, rs398123950, rs398123952, rs398123953, rs398123957, rs398123960, rs398123962, rs398123963, rs398123970, rs398123971, rs398123973, rs398123977, rs398123979, rs398123980, rs398123981, rs398123990, rs1064325, rs398123991, rs398123997, rs398123999, rs398124003, rs398124007, rs398124008, rs398124012, rs398124033, rs398124034, rs398124036, rs398124038, rs398124039, rs398124040, rs398124042, rs398124044, rs398124050, rs398124051, rs398124055, rs398124058, rs398124060, rs398124062, rs398124068, rs398124070, rs398124072, rs398124073, rs398124074, rs398124075, rs398124078, rs398124091, rs398124092, rs398124094, rs398124096, rs398124099, rs398124104, rs398124105, rs373286166, rs727503850, rs727503802, rs727503864, rs794726993, rs794727030, rs794727123, rs794727357, rs794727359, rs794727422, rs794727463, rs794727499, rs794727661, rs794727666, rs797044764, rs201361100, rs796065333, rs794727862, rs794727890, rs797045526, rs146880270, rs863224977, rs863224976, rs863224975, rs863225018, rs863225017, rs863225015, rs863225014, rs863225013, rs863225012, rs863225011, rs863225010, rs863225009, rs762394978, rs863225008, rs863225007, rs863225006, rs863225005, rs863225004, rs863225003, rs863225002, rs777864641, rs863225001, rs863225000, rs863224999, rs863224998, rs863224997, rs863224994, rs863224993, rs863224992, rs756949497, rs863224988, rs863224987, rs863224986, rs762860653, rs863224985, rs863224984, rs863224983, rs863224982, rs863224981, rs863224980, rs863224979, rs863224978, rs863224996, rs863224995, rs863224991, rs863224990, rs863224989, rs878854366, rs779739455, rs878854621, rs770845480, rs762250680, rs878854619, rs878854618, rs886039681, rs886039532, rs886039478, rs886039535, rs886039536, rs886039785, rs886041344, rs886042106, rs886042154, rs886042495, rs886042499, rs886042604, rs886042747, rs886042840, rs886042875, rs398124032, rs886042983, rs886043041, rs886043084, rs763936813, rs886043251, rs886043375, rs886043496, rs886043640, rs886043676, rs886043699, rs886043822, rs886043909, rs886043989, rs748769566, rs886044324, rs886044402, rs886044455, rs886044490, rs886044502, rs886044582, rs1057518207, rs1057518962, rs1057518692, rs1057520764, rs1556641290, rs1060502653, rs1064792968, rs1060502624, rs1060502621, rs765445866, rs1060502645, rs1064792967, rs1060502659, rs1060502620, rs1060502643, rs1060502641, rs1060502639, rs1060502636, rs1060502661, rs1060502635, rs1060502629, rs1060502644, rs72470513, rs1557079469, rs1060502626, rs1060502625, rs1060502630, rs1057524037, rs1060502633, rs1060502656, rs1060502648, rs1060502619, rs1060502646, rs1060502623, rs1060502632, rs1060502640, rs1557380496, rs1060502647, rs1060502637, rs1060502634, rs1060502615, rs1060502627, rs1557084128, rs1060502652, rs1064794569, rs1064793479, rs1064793986, rs1064793964, rs1556665303, rs753662330, rs1556790316, rs1556656184, rs1556764743, rs1556764753, rs1556806356, rs773643220, rs1556875180, rs1340365803, rs1556656851, rs1557316295, rs1556046080, rs1556256329, rs1556656487, rs1556962223, rs1556962571, rs1557011973, rs1557291170, rs1556930769, rs104894789, rs1556665052, rs1556917057, rs1557305645, rs182575709, rs1556656818, rs1557218076, rs1239018406, rs1557084067, rs1557300135, rs1556035795, rs1556037455, rs1556853039, rs1556880354, rs1557380616, rs1557047827, rs1557396600, rs1557374667, rs796523999, rs1557320151, rs1057517960, rs1557304860, rs770183212, rs1557218093, rs1557038061, rs1557320194, rs1233380601, rs1557294228, rs1557011929, rs1557322838, rs1057518284, rs1557291242, rs1557292678, rs1557322834, rs1557058415, rs1556780579, rs1556930579, rs1557369493, rs1556764934, rs1556962271, rs1557315928, rs1555998436, rs1556764922, rs1556656847, rs1557218131, rs1557369413, rs1557369991, rs1557374482, rs1055371114, rs1556040444, rs1557291229, rs1010666282, rs1556028034, rs1556929259, rs1556930839, rs1557303544, rs1557380685, rs1556802319, rs1556809704, rs1557058308, rs1557058350, rs1385794215, rs1556035817, rs1556503937, rs1556656456, rs1556764880, rs1556789913, rs1557322201, rs1557359217, rs1557362198, rs1556853298, rs1556875224, rs1556876346, rs1556852444, rs1569460607, rs1569530432, rs1569451994, rs1569452000, rs1569559106, rs144732570, rs1569273905, rs1569526122, rs1569562941, rs1569230406, rs1569559822, rs1569526579, rs1569528101, rs1569533965, rs1569546174, rs1569559110, rs1569559849, rs1569562936, rs1569562952, rs1057522454, rs149106712, rs1569469298, rs1569401103, rs1209389771, rs1569563678, rs1569560739, rs868688877, rs1569558953, rs1569230215, rs1569563751, rs1569565192, rs1569559204, rs1569186252, rs1569558906, rs1569533147, rs1569559097, rs1569564281, rs1569562466, rs1569169560, rs1429329309, rs1569460722, rs1569556943, rs1569420861, rs1569213903, rs374744331, rs1569463953, rs1569230293, rs1295394996, rs1602451773, rs1602145926, rs1602416457, rs886043597, rs1602728959, rs72466562, rs1602938385, rs1603222095, rs1603280511, rs1603452196, rs142500746, rs1254776844, rs1603513684, rs1603513697, rs1603618489, rs1603632245, rs1603632312, rs1603634298, rs1603634608, rs1603634744, rs1602169535, rs1602460062, rs1603432076, rs1603441550, rs1602766725, rs1603419076, rs1603447081, rs1603631757, rs1601809011, rs1602727611, rs1603222556, rs1602146767, rs1602337330, rs895755247, rs1602369798, rs1602409174, rs1602417503, rs1181271457, rs1602454605, rs1602454639, rs1602454747, rs1602455302, rs1602455747, rs1602456486, rs1602669026, rs1602695597, rs1602696519, rs1602730254, rs1602947628, rs1603253563, rs1601864055, rs1602056443, rs1602937974, rs1556656077, rs1603221854, rs1603222424, rs1603222574, rs1603222897, rs1603222922, rs1603223025, rs794727770, rs1603226023, rs1603264641, rs1603264659, rs1603264705, rs1603264731, rs1603280686, rs1603280745, rs1603280796, rs1603430178, rs1603430181, rs1603445277, rs1603445278, rs1603445283, rs1603445332, rs1603445344, rs1603452207, rs1603513680, rs1603513803, rs1603513817, rs1603513828, rs1603514271, rs1603514272, rs201818335, rs1603615883, rs1603628479, rs1603628482, rs1603628483, rs1603628485, rs1603628487, rs1603629988, rs1603630431, rs1603631225, rs1603631240, rs1603631241, rs1603631244, rs1603631367, rs1603631368, rs373428963, rs1603631705, rs1603631744, rs1603631752, rs1603631756, rs1603632117, rs1603632119, rs771425504, rs1216000876, rs1603632248, rs1603632309, rs1603632311, rs1603632314, rs1603632316, rs772220893, rs1603632322, rs1603632324, rs1603632326, rs1603633486, rs1603633541, rs1603633545, rs1339088514, rs398123943, rs1603633864, rs1603633868, rs1603634079, rs1569563740, rs1603634105, rs1603634199, rs1603634203, rs1603634206, rs1603634207, rs1603634299, rs1603634603, rs1603634604, rs1603634607, rs1603634609, rs747937552, rs1603634742, rs1603634743, rs1603634745, rs1603634746, rs1603634747, rs1603634748, rs1603635326, rs1603635331, rs1603635949, rs1603635950, rs1603635953, rs1603636537, rs1603636541, rs1601808288, rs1601808296, rs1601808326, rs1601808608, rs1601810667, rs1602467530, rs1602467590, rs1602467787, rs1602468968, rs1602469251, rs1602469384, rs1603137168, rs1603149954, rs1603150335, rs1603150993, rs374222301, rs1603151699, rs1603432059, rs794727863, rs1603437254, rs1603437272, rs1603441629, rs1603447057, rs1603447072, rs1602765633, rs1602766499, rs1602766531, rs1602766655, rs1403865104, rs1603419074, rs768892830, rs1603631365, rs1602765856, rs1602338283, rs1602360475, rs1603631219, rs1603634749, rs1602459252, rs2040217313, rs376745644, rs2040714340, rs2041309291, rs2044445392, rs2067953453, rs2068036881, rs2068038543, rs2078916448, rs2090513299, rs2094827204, rs2094864356, rs2095370524, rs1425702864, rs2097850041, rs2098390819, rs2042979418, rs2046036327, rs2052700227, rs2077781516, rs2080979223, rs2040711393, rs2097447247, rs2098280263, rs2098391032, rs2063781031, rs2080514041, rs2036834025, rs2063903818	30014611

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		23278386	ClinVar
Stress Disorder	Stress Disorder			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Dementia	Dementia			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Astrocytoma	Astrocytoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autistic Disorder	Associate	31808517
Bipolar Disorder	Associate	18163389, 21176025
Breast Neoplasms	Associate	32514046
Carcinoma Squamous Cell	Associate	28177435
Chronic Pain	Associate	28968502
Diabetic Angiopathies	Associate	39519313
Dissociative Disorders	Associate	37023279
Endometrial Neoplasms	Associate	22706224
Inflammation	Associate	26480920, 32986378
Keloid	Associate	34600545
Melanoma	Associate	32241263
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Neoplasms	Inhibit	27651839
Neurologic Manifestations	Associate	28968502
Obesity	Associate	26480920
Obsessive Compulsive Disorder	Associate	31808517