NGF (nerve growth factor)

Gene

• Entrez ID: 4803
• Gene name: Nerve growth factor
• Gene symbol: NGF
• Synonyms (NCBI Gene): Beta-NGF, HSAN5, NGFB
• Disease Acronyms (UniProt): HSAN5
• Chromosome: 1
• Chromosome location: 1p13.2
• Summary: This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the d

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733688	hsa-let-7a-5p	ELISA, Luciferase reporter assay, qRT-PCR, Western blotting	31925656

Transcription factors

Transcription factor	Regulation	Reference
FOS	Unknown	2111020
ING4	Repression	22078444
JUN	Unknown	2111020

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000186	Process	Activation of MAPKK activity	TAS
GO:0005163	Function	Nerve growth factor receptor binding	IBA	21873635
GO:0005163	Function	Nerve growth factor receptor binding	IPI	14985763
GO:0005515	Function	Protein binding	IPI	10490030, 14985763, 15131306, 18596692, 19122660, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005796	Component	Golgi lumen	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007422	Process	Peripheral nervous system development	IBA	21873635
GO:0007613	Process	Memory	IBA	21873635
GO:0008021	Component	Synaptic vesicle	IBA	21873635
GO:0008083	Function	Growth factor activity	IBA	21873635
GO:0008191	Function	Metalloendopeptidase inhibitor activity	IDA	20164177
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10362258
GO:0008289	Function	Lipid binding	IEA
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IDA	14985763
GO:0010628	Process	Positive regulation of gene expression	IMP	16153003
GO:0010628	Process	Positive regulation of gene expression	ISS	10362258
GO:0021675	Process	Nerve development	IBA	21873635
GO:0030424	Component	Axon	IBA	21873635
GO:0030425	Component	Dendrite	IBA	21873635
GO:0031904	Component	Endosome lumen	IEA
GO:0032455	Process	Nerve growth factor processing	TAS
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IBA	21873635
GO:0038180	Process	Nerve growth factor signaling pathway	IBA	21873635
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0043066	Process	Negative regulation of apoptotic process	TAS
GO:0043154	Process	Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	TAS
GO:0043281	Process	Regulation of cysteine-type endopeptidase activity involved in apoptotic process	TAS
GO:0043388	Process	Positive regulation of DNA binding	ISS	10362258
GO:0043524	Process	Negative regulation of neuron apoptotic process	IBA	21873635
GO:0045664	Process	Regulation of neuron differentiation	IBA	21873635
GO:0045666	Process	Positive regulation of neuron differentiation	TAS	10362258
GO:0046579	Process	Positive regulation of Ras protein signal transduction	ISS
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	TAS
GO:0048672	Process	Positive regulation of collateral sprouting	IBA	21873635
GO:0048812	Process	Neuron projection morphogenesis	IBA	21873635
GO:0048812	Process	Neuron projection morphogenesis	IDA	17724343
GO:0050772	Process	Positive regulation of axonogenesis	TAS
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA	21873635

Other IDs

• MIM: 162030
• HGNC: 7808
• e!Ensembl: ENSG00000134259

Protein

• UniProt ID: P01138
• Protein name: Beta-nerve growth factor (Beta-NGF)
• Protein function: Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades
• PDB: 1SG1, 1WWW, 2IFG, 4EDW, 4EDX, 4ZBN, 5JZ7, 6YW8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00243	NGF	128 → 238	Nerve growth factor family	Domain

• Sequence:

  MSMLFYTLITAFLIGIQAEPHSESNVPAGHTIPQAHWTKLQHSLDTALRRARSAPAAAIA
  ARVAGQTRNITVDPRLFKKRRLRSPRVLFSTQPPREAADTQDLDFEVGGAAPFNRTHRSK
  RSSSHPIFHRGEFSVCDSVSVWVGDKTTATDIKGKEVMVLGEVNINNSVFKQYFFETKCR
  DPNPVDSGCRGIDSKHWNSYCTTTHTFVKALTMDGKQAAWRFIRIDTACVCVLSRKAVRR
  A

• Sequence length: 241

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
Apoptosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels

Reactome:

NGF processing
Frs2-mediated activation
ARMS-mediated activation
Retrograde neurotrophin signalling
TRKA activation by NGF
PI3K/AKT activation
NFG and proNGF binds to p75NTR
NADE modulates death signalling
NRIF signals cell death from the nucleus
p75NTR recruits signalling complexes
NF-kB is activated and signals survival
Axonal growth stimulation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Epilepsy	Epilepsy, Tonic-Clonic, Familial, Epilepsy, Tonic-Clonic, Symptomatic	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	16023256
Glomerulonephritis	Glomerulonephritis	rs778043831	24244623
Hereditary insensitivity to pain with anhidrosis	HSAN Type IV	rs914061514, rs121964866, rs35669708, rs121964868, rs121964870, rs80356675, rs80356676, rs80356677, rs80356674, rs398122810, rs606231466, rs606231467, rs797045059, rs797045060, rs879253889, rs879253890, rs1064793219, rs1452844753, rs747711259, rs764171953, rs370483210, rs1363364803, rs759190964, rs1558104865, rs1558105252, rs763758904, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571685736, rs748672380, rs1232901259, rs747976486, rs1571689751, rs1571696060, rs1571690112, rs763122825, rs1655824699, rs1647277529, rs369353892, rs1648159596, rs780724170, rs768373757
Hereditary sensory and autonomic neuropathy	Hereditary Sensory Autonomic Neuropathy, Type 1, Hereditary Sensory Autonomic Neuropathy, Type 2, Hereditary Sensory Autonomic Neuropathy, Type 5, Hereditary Sensory and Autonomic Neuropathies, Hereditary Sensory Radicular Neuropathy, Hereditary sensory and autonomic neuropathy type 5	rs137852739, rs137852737, rs28940291, rs28940294, rs267607089, rs267607091, rs119482081, rs119482083, rs119482082, rs267607087, rs111033592, rs111033590, rs111033591, rs387906331, rs387906332, rs137852736, rs137852738, rs137852734, rs137852735, rs398122819, rs587778791, rs587778798, rs483352920, rs672601370, rs864621998, rs863224970, rs879253939, rs879254294, rs1057519416, rs1057518748, rs746681765, rs1057519295, rs1064795772, rs1085307142, rs1554716504, rs775437084, rs1554093168, rs1184021143, rs1562435373, rs201871537, rs1478989689, rs1242078669, rs759006806, rs1559030991, rs757480516, rs759333796, rs1594986869, rs1580849841, rs1574706911, rs1574843584, rs1580870705, rs1197928094, rs1951910839, rs1601814238, rs1639043704, rs1799544883	14976160, 15131306, 19038341, 20978020, 22302274, 1317267
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	24244623
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
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	19694610, 19276553
Renal insufficiency	Chronic Kidney Insufficiency	rs1596536873	24244623
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	30285260
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	18815271

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Mental Depression, Depressive disorder		23020178	ClinVar
Osteomyelitis	Osteomyelitis			ClinVar
Neuropathy	hereditary sensory and autonomic neuropathy			GenCC
Hereditary Sensory And Autonomic Neuropathy	hereditary sensory and autonomic neuropathy type 5			GenCC
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
Coronary artery disease	Coronary artery disease			GWAS
Hypertension	Hypertension			GWAS
Endometriosis	Endometriosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidemia isovaleric	Associate	20690185
Adenocarcinoma	Stimulate	29802376
Adenomyosis	Associate	33305666
Alzheimer Disease	Associate	21397006, 22330829, 23095849, 26302439, 27389402, 28498887, 28888073, 29582053, 32126838
Alzheimer Disease	Stimulate	9453564
Alzheimer disease familial type 3	Associate	22330829
Amyotrophic Lateral Sclerosis	Associate	29702606, 32174778
Aneuploidy	Associate	28574013
Angiofibroma	Associate	14567719
Anxiety	Associate	22832952, 28413930
Anxiety Disorders	Associate	23772677
Arthralgia	Associate	26577823
Arthritis	Associate	20581375, 21792838, 26577823, 35309353
Arthritis Psoriatic	Stimulate	21792838
Arthritis Psoriatic	Associate	9534881
Arthritis Rheumatoid	Stimulate	19490633, 21792838
Arthritis Rheumatoid	Associate	20581375
Asthma	Associate	12212982, 12900521, 23195334, 33787326, 40696647
Astrocytoma	Associate	17635673
Ataxia	Associate	23608378
Atrial Fibrillation	Associate	26446633, 32781864
Autism Spectrum Disorder	Associate	22105621
Autoimmune Diseases	Associate	15763921, 25876154
Autoimmune Diseases	Stimulate	24244623
Bipolar Disorder	Associate	25730879, 38484669
Bone Diseases	Associate	35300334
Brain Damage Chronic	Associate	17881264
Brain Injuries	Inhibit	23608378
Brain Injuries Traumatic	Associate	17881264, 39359202
Brain Injuries Traumatic	Inhibit	23608378
Brain Ischemia	Associate	22410557
Breast Neoplasms	Associate	10606728, 10681513, 11359788, 16984733, 18716795, 21241485, 24180625, 33026185, 9642218
Bursitis	Associate	36008780
Carcinogenesis	Associate	27302927
Carcinoma	Associate	9406845
Carcinoma Adenoid Cystic	Stimulate	20690417
Carcinoma Hepatocellular	Associate	33649819
Carcinoma Ovarian Epithelial	Associate	33081171
Carcinoma Pancreatic Ductal	Associate	36319832
Carcinoma Squamous Cell	Associate	29802376
Cartilage Diseases	Associate	26577823, 35300334
Cerebral Infarction	Associate	29499660
Charcot Marie Tooth disease Type 1C	Associate	38098081
Cholangiocarcinoma	Associate	24744599
Chronic Pain	Associate	17611164, 26668319, 27454463, 35300334
Cognition Disorders	Associate	22330829, 35516456, 37175781
Cognitive Dysfunction	Associate	23095849
Cognitive Dysfunction	Inhibit	28888073
Colitis Ulcerative	Stimulate	10764711
Colitis Ulcerative	Associate	38149258
Colorectal Neoplasms	Associate	32235004, 9290260
Communication Disorders	Associate	22105621
Congenital Hyperinsulinism	Associate	24971614
Conjunctivitis Allergic	Stimulate	26989694
Corneal Dystrophy Band Shaped	Associate	35075190
Corneal Ulcer	Inhibit	24244623, 30599086
Cough	Associate	24094526
cough hypersensitivity syndrome	Associate	28931666
Craniocerebral Trauma	Stimulate	17881264
Crohn Disease	Stimulate	10764711, 38149258
Cystic Fibrosis	Associate	10561084
Cystitis Interstitial	Associate	24146927
Dementia	Associate	26738357
Depressive Disorder	Associate	35069013
Depressive Disorder Major	Associate	31889537
Dermatitis Atopic	Stimulate	21893340
Dermatomyositis	Stimulate	36012289
Developmental Disabilities	Associate	24971614
Diabetes Mellitus	Associate	23998130
Diabetes Mellitus Type 2	Associate	26579581
Diabetic Foot	Associate	26579581
Diffuse Axonal Injury	Inhibit	39359202
Distal Myopathies	Inhibit	36228098
Drug Hypersensitivity	Stimulate	12900521
Drug Hypersensitivity	Associate	19942804
Drug Related Side Effects and Adverse Reactions	Associate	28701524
Dry Eye Syndromes	Associate	37916377
Dysautonomia Familial	Associate	3392215, 6244581
Dysmenorrhea	Associate	23883529, 27454463
Dyspareunia	Associate	23883529, 32240297
Dystonia	Associate	6244581
Eczema	Associate	11028855
Encephalomyelitis Autoimmune Experimental	Associate	19063739
Endometriosis	Inhibit	18061173
Endometriosis	Associate	18976764, 22717347, 23883529, 25865020, 32240297
Endometriosis	Stimulate	26604067
Esophageal Squamous Cell Carcinoma	Associate	16832412
Fibromyalgia	Associate	17611164
Fractures Bone	Associate	23608378
Frontotemporal Lobar Degeneration	Associate	31081340
Gallbladder Neoplasms	Stimulate	20353905
Gastroesophageal Reflux	Associate	26337663
Gastroesophageal Reflux	Stimulate	38098488
Gastrointestinal Neoplasms	Associate	29459716
Genetic Diseases Inborn	Associate	6330750
Giant Cell Arteritis	Associate	25418464
Glioblastoma	Associate	36675126, 37951450
Glioma	Associate	34257579
Glomerulonephritis	Associate	24244623
Granuloma	Associate	21059230
Headache	Associate	10084541
Headache Disorders	Associate	17611164
Hepatitis Viral Human	Associate	31996124
Hereditary Sensory and Autonomic Neuropathies	Associate	22302274, 30384131, 32807182, 37248554, 37769650, 8696348, 9290260
HIV Infections	Associate	12699420, 37445902
Horner Syndrome	Associate	26446633
Hyperalgesia	Stimulate	10084541
Hyperalgesia	Associate	28447608
Hyperglycemia	Stimulate	21386984, 35088883
Hypertrophy	Associate	26302439
Hypoxia	Stimulate	21535870
Immunologic Deficiency Syndromes	Associate	30599086
Infarction	Associate	29499660
Infections	Stimulate	24094526
Inflammation	Associate	10084541, 10764711, 11028855, 12212982, 15763921, 19424612, 19942804, 22503040, 23195334, 25816145, 25876154, 31286562, 32986378, 33654130, 35309353, 40133606
Inflammation	Stimulate	24244623, 30739483, 9453564
Inflammatory Bowel Diseases	Associate	10764711
Intervertebral Disc Degeneration	Associate	18727839, 26668319, 33652921
Ischemia	Associate	22410557
Keratitis	Associate	35408969
Keratoconus	Associate	16275928
Kidney Failure Chronic	Associate	24244623
Leprosy	Inhibit	22510739
Leprosy Tuberculoid	Associate	38278287
Leukemia	Associate	15731354
Leukemia	Stimulate	19059881
Leukemia Myeloid Acute	Associate	15731354
Leukemic Infiltration	Associate	27519317
Lipedema	Stimulate	36142221
Liver Cirrhosis	Associate	25816145
Liver Diseases	Associate	25816145, 31996124
Lupus Erythematosus Systemic	Stimulate	24223945
Lupus Erythematosus Systemic	Associate	36741410
Lymphatic Metastasis	Stimulate	16832412
Lymphoma B Cell	Inhibit	27835587
Lymphoma Large B Cell Diffuse	Associate	22076137
Lymphoma Non Hodgkin	Associate	34257579
Lymphoma Primary Effusion	Associate	10779438
Malformations of Cortical Development Group I	Associate	16098468
Mastocytoma	Associate	21501463
Mastocytosis	Associate	23869086
Medulloblastoma	Associate	19943845
Melanoma	Associate	24226422, 35457078, 38195702, 8305739
Meningoencephalitis	Stimulate	24406738
Meningomyelocele	Stimulate	24706316
Mental Disorders	Associate	37175781
Mesothelioma Malignant	Associate	25162674
Migraine Disorders	Associate	17611164, 28447608
Motor Neuron Disease	Associate	20561151
Mouth Diseases	Associate	18976764, 30503131
Mouth Diseases	Stimulate	26604067
Multiple Sclerosis	Stimulate	12753507
Multiple Sclerosis	Associate	19063739
Multiple Sclerosis	Inhibit	36754216
Muscular Dystrophy Duchenne	Associate	24843230
Myasthenia Gravis	Stimulate	15763921
Myasthenic Syndromes Congenital	Associate	15763921
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Neoplasm Metastasis	Stimulate	16832412
Neoplasm Metastasis	Associate	20690417
Neoplasms	Associate	16832412, 1850772, 19424612, 24067459, 24180625, 26483192, 27229480, 27835587, 28679437, 29802376, 31150430, 32235004, 33026185, 33649819, 35188730, 35457078, 35686747, 36395769, 36675126, 37445902, 38195702, 7977648
Neoplasms	Stimulate	29565967
Nerve Degeneration	Inhibit	8441429
Nervous System Diseases	Associate	14686749, 37769650
Neuralgia	Associate	38521157
Neuroblastoma	Associate	1527053, 15992370, 17409494, 21990266, 23999075, 3146694, 34556815, 35887076, 39389992, 8441429, 9523557
Neurodegenerative Diseases	Associate	11161609, 24367504
Neurodegenerative Diseases	Inhibit	24244623
Neurofibromatoses	Associate	2983544
Neurogenic Inflammation	Associate	10084541
Neurogenic Inflammation	Stimulate	11028855
Neurogenic Inflammation	Inhibit	21893340
Neuroinflammatory Diseases	Associate	28701524
Neuronal intestinal pseudoobstruction	Associate	31776429
Neuropathy Painful	Inhibit	14686749
Obesity	Associate	24971614
Osteoarthritis	Associate	20581375, 26577823, 26668319, 30562625, 33953899, 36769248
Osteoarthritis	Stimulate	25054223, 25196344, 34209473
Osteoarthritis Hip	Associate	34589551, 36769248
Osteoarthritis Knee	Associate	23608378, 31077183, 31557169, 39313491
Osteosarcoma	Associate	24067459
Ovarian Diseases	Associate	23883529, 33081171
Ovarian Neoplasms	Associate	27835587
Pain	Associate	14686749, 18727839, 20581375, 20942668, 23883529, 24901787, 25196344, 27146986, 27454463, 27488379, 27792755, 28447608, 28668088, 29562624, 31077183, 31557169, 34589551, 34649531, 36578051, 36769248, 39313491
Pain	Stimulate	35925599
Pain Insensitivity Congenital	Associate	19183217, 37248554, 37769650
Paine syndrome	Associate	10561084
Pancreatic Neoplasms	Associate	21386984, 27792755, 32294802, 33820868, 35088883, 35188730, 35449152
Pancreatitis Chronic	Stimulate	10561084
Parkinson Disease	Associate	35516456, 37673381
Pelvic Pain	Associate	23883529, 27454463, 33305666
Pemphigoid Benign Mucous Membrane	Associate	26569118
Pheochromocytoma	Associate	16098468, 23785438
Phyllodes Tumor	Associate	33026185
Polycystic Ovary Syndrome	Associate	27908212, 33622336
Pre Eclampsia	Associate	31522565
Prostatic Neoplasms	Associate	25285721
Prurigo	Associate	30809683
Pruritus	Inhibit	21893340
Pruritus	Associate	22948508, 30809683
Psoriasis	Associate	11028855, 9534881
Psoriasis	Stimulate	19942804
Pterygium	Associate	19758420
Pulmonary Disease Chronic Obstructive	Inhibit	38174374
Pyruvate Carboxylase Deficiency Disease	Associate	24367504
Renal Insufficiency Chronic	Associate	24244623, 26579581
Respiratory Distress Syndrome	Associate	28413930
Respiratory Hypersensitivity	Associate	12212982
Respiratory Syncytial Virus Infections	Associate	28701524
Respiratory Tract Diseases	Associate	36011952
Retinal Neoplasms	Associate	10845619
Retinopathy of Prematurity	Associate	39940677
Sarcoidosis	Stimulate	21059230
Sarcoidosis Pulmonary	Stimulate	21059230
Sarcoma	Associate	21059230
Sarcoma Ewing	Associate	27145455
Schizophrenia	Associate	7786881
Schwannomatosis	Associate	26657314
Sexual Dysfunctions Psychological	Inhibit	36228098
Sezary Syndrome	Stimulate	22948508
Shoulder Pain	Inhibit	37864374
Signs and Symptoms	Associate	27146986
Skin Diseases	Associate	19942804
Sleep Apnea Obstructive	Stimulate	17667845
Small Fiber Neuropathy	Associate	36012289
Spinal Cord Diseases	Associate	24706316
Spinal Cord Injuries	Associate	24706316, 33595805
Spondylitis Ankylosing	Stimulate	19490633
Squamous Cell Carcinoma of Head and Neck	Associate	29904026, 35211756, 35925599
Stomach Neoplasms	Inhibit	12854135
Stomach Neoplasms	Associate	28679437
Stroke	Associate	29499660
Synovitis	Associate	19490633
Tarlov Cysts	Stimulate	20690417, 35088883
Tarlov Cysts	Associate	27792755, 35449152
Tinnitus	Associate	37736859
Tooth Erosion	Stimulate	27512850
Uniparental Disomy	Associate	11071380
Urinary Bladder Neurogenic	Associate	36012289
Urinary Bladder Overactive	Inhibit	28089729
Urticaria	Associate	19054925
Uterine Cervical Neoplasms	Associate	37445902
Uterine Cervicitis	Associate	37445902
Uveitis	Associate	26848019
Vasculitis Leukocytoclastic Cutaneous	Associate	11028855
Virus Diseases	Stimulate	24406738