NTRK3 (neurotrophic receptor tyrosine kinase 3)

Gene

• Entrez ID: 4916
• Gene name: Neurotrophic receptor tyrosine kinase 3
• Gene symbol: NTRK3
• Synonyms: GP145-TrkC, TRKC, gp145(trkC)
• Chromosome: 15
• Chromosome location: 15q25.3
• Summary: This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003754	hsa-miR-125b-5p	Western blot, Reporter assay	17483472
MIRT003323	hsa-miR-9-5p	Luciferase reporter assay, Western blot	17483472
MIRT003755	hsa-miR-125a-5p	Luciferase reporter assay, Western blot	17483472
MIRT003754	hsa-miR-125b-5p	Luciferase reporter assay, Western blot	17483472
MIRT003755	hsa-miR-125a-5p	Luciferase reporter assay	19179615
MIRT003323	hsa-miR-9-5p	Luciferase reporter assay	19188439
MIRT003755	hsa-miR-125a-5p	Review	20026422
MIRT003323	hsa-miR-9-5p	Review	20026422
MIRT003323	hsa-miR-9-5p	Luciferase reporter assay	18973228
MIRT003755	hsa-miR-125a-5p	Luciferase reporter assay	18973228
MIRT000340	hsa-miR-128-3p	Luciferase reporter assay	19370765
MIRT000340	hsa-miR-128-3p	Luciferase reporter assay	19370765
MIRT000045	hsa-miR-485-3p	Luciferase reporter assay	19370765
MIRT000045	hsa-miR-485-3p	Luciferase reporter assay	19370765
MIRT004915	hsa-miR-509-3p	Luciferase reporter assay	19370765
MIRT004915	hsa-miR-509-3p	Luciferase reporter assay	19370765
MIRT004914	hsa-miR-625-5p	Luciferase reporter assay	19370765
MIRT004914	hsa-miR-625-5p	Luciferase reporter assay	19370765
MIRT000030	hsa-miR-765	Luciferase reporter assay	19370765
MIRT000030	hsa-miR-765	Luciferase reporter assay	19370765
MIRT004911	hsa-miR-198	Luciferase reporter assay	19370765
MIRT004911	hsa-miR-198	Luciferase reporter assay	19370765
MIRT004910	hsa-miR-330-3p	Luciferase reporter assay	19370765
MIRT004910	hsa-miR-330-3p	Luciferase reporter assay	19370765
MIRT004909	hsa-miR-384	Luciferase reporter assay	19370765
MIRT004909	hsa-miR-384	Luciferase reporter assay	19370765
MIRT004881	hsa-miR-617	Luciferase reporter assay	19370765
MIRT004882	hsa-miR-345-5p	Luciferase reporter assay	19370765
MIRT004882	hsa-miR-345-5p	Luciferase reporter assay	19370765
MIRT004881	hsa-miR-617	Luciferase reporter assay	19370765
MIRT005962	hsa-miR-151a-3p	Luciferase reporter assay	21143953
MIRT005963	hsa-miR-185-5p	Luciferase reporter assay	21143953
MIRT004915	hsa-miR-509-3p	Luciferase reporter assay	21143953
MIRT000340	hsa-miR-128-3p	Luciferase reporter assay	21143953
MIRT040195	hsa-miR-615-3p	CLASH	23622248
MIRT508796	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508797	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508795	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508794	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515491	hsa-miR-192-3p	HITS-CLIP	21572407
MIRT515490	hsa-miR-4776-3p	HITS-CLIP	21572407
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508797	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515491	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT515490	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508797	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515491	hsa-miR-192-3p	PAR-CLIP	23446348
MIRT515490	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508797	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT000045	hsa-miR-485-3p	qRT-PCR, In situ hybridization	33531648
MIRT000340	hsa-miR-128-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33575204
MIRT736927	hsa-let-7i-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	34020702
MIRT508796	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508797	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT508795	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT508794	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT515491	hsa-miR-192-3p	HITS-CLIP	21572407
MIRT515490	hsa-miR-4776-3p	HITS-CLIP	21572407
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508797	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT515491	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT515490	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508797	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT515491	hsa-miR-192-3p	PAR-CLIP	23446348
MIRT515490	hsa-miR-4776-3p	PAR-CLIP	23446348
MIRT508796	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508797	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT508795	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT508794	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT004911	hsa-miR-198	Microarray, qRT-PCR	35816043
MIRT1196300	hsa-miR-103b	CLIP-seq
MIRT1196301	hsa-miR-3190	CLIP-seq
MIRT1196302	hsa-miR-3944-3p	CLIP-seq
MIRT1196303	hsa-miR-4271	CLIP-seq
MIRT1196304	hsa-miR-4457	CLIP-seq
MIRT1196305	hsa-miR-4462	CLIP-seq
MIRT1196306	hsa-miR-4492	CLIP-seq
MIRT1196307	hsa-miR-4498	CLIP-seq
MIRT1196308	hsa-miR-4505	CLIP-seq
MIRT1196309	hsa-miR-450b-3p	CLIP-seq
MIRT1196310	hsa-miR-4710	CLIP-seq
MIRT1196311	hsa-miR-4713-3p	CLIP-seq
MIRT1196312	hsa-miR-4725-3p	CLIP-seq
MIRT1196313	hsa-miR-4761-5p	CLIP-seq
MIRT1196314	hsa-miR-624	CLIP-seq
MIRT1196315	hsa-miR-638	CLIP-seq
MIRT1196316	hsa-miR-762	CLIP-seq
MIRT1196317	hsa-miR-769-3p	CLIP-seq
MIRT2285391	hsa-miR-1236	CLIP-seq
MIRT2285392	hsa-miR-4753-3p	CLIP-seq
MIRT1196306	hsa-miR-4492	CLIP-seq
MIRT1196307	hsa-miR-4498	CLIP-seq
MIRT1196316	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX2	Activation	22265740

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IDA	23027130
GO:0001933	Process	Negative regulation of protein phosphorylation	IDA	23027130
GO:0001934	Process	Positive regulation of protein phosphorylation	TAS	19036963
GO:0002039	Function	P53 binding	IPI	23027130
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0005030	Function	Neurotrophin receptor activity	IBA	21873635
GO:0005030	Function	Neurotrophin receptor activity	IDA	23027130
GO:0005515	Function	Protein binding	IPI	20565848, 21102451
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IDA	23027130
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007399	Process	Nervous system development	IEA
GO:0007507	Process	Heart development	IMP	25196463
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	23027130
GO:0010628	Process	Positive regulation of gene expression	IDA	23027130
GO:0010863	Process	Positive regulation of phospholipase C activity	TAS
GO:0010976	Process	Positive regulation of neuron projection development	IBA	21873635
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	23027130
GO:0030424	Component	Axon	IBA	21873635
GO:0032148	Process	Activation of protein kinase B activity	IDA	23027130
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	23027130
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0038179	Process	Neurotrophin signaling pathway	IEA
GO:0043121	Function	Neurotrophin binding	IBA	21873635
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IBA	21873635
GO:0050927	Process	Positive regulation of positive chemotaxis	IDA	23027130
GO:0051388	Process	Positive regulation of neurotrophin TRK receptor signaling pathway	TAS
GO:0051896	Process	Regulation of protein kinase B signaling	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0090630	Process	Activation of GTPase activity	IDA	23027130
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IBA	21873635
GO:2000251	Process	Positive regulation of actin cytoskeleton reorganization	IDA	23027130

Other IDs

• MIM: 191316
• HGNC: 8033
• e!Ensembl: ENSG00000140538

Protein

• UniProt ID: Q16288
• Protein name: NT-3 growth factor receptor (EC 2.7.10.1) (GP145-TrkC) (Trk-C) (Neurotrophic tyrosine kinase receptor type 3) (TrkC tyrosine kinase)
• Protein function: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways, including the phosphatidylinositol 3-kinase/
• PDB: 1WWC, 3V5Q, 4YMJ, 6KZC, 6KZD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01462	LRRNT	31 → 58	Leucine rich repeat N-terminal domain	Family
  PF13855	LRR_8	103 → 162	Leucine rich repeat	Repeat
  PF16920	TPKR_C2	163 → 208	Tyrosine-protein kinase receptor C2 Ig-like domain	Domain
  PF00047	ig	214 → 299	Immunoglobulin domain	Domain
  PF07679	I-set	316 → 392	Immunoglobulin I-set domain	Domain
  PF07714	PK_Tyr_Ser-Thr	538 → 824	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKTEINCRRPDDGNLFPLLEGQ
  DSGNSNGNASINITDISRNITSIHIENWRSLHTLNAVDMELYTGLQKLTIKNSGLRSIQP
  RAFAKNPHLRYINLSSNRLTTLSWQLFQTLSLRELQLEQNFFNCSCDIRWMQLWQEQGEA
  KLNSQNLYCINADGSQLPLFRMNISQCDLPEISVSHVNLTVREGDNAVITCNGSGSPLPD
  VDWIVTGLQSINTHQTNLNWTNVHAINLTLVNVTSEDNGFTLTCIAENVVGMSNASVALT
  VYYPPRVVSLEEPELRLEHCIEFVVRGNPPPTLHWLHNGQPLRESKIIHVEYYQEGEISE
  GCLLFNKPTHYNNGNYTLIAKNPLGTANQTINGHFLKEPFPESTDNFILFDEVSPTPPIT
  VTHKPEEDTFGVSIAVGLAAFACVLLVVLFVMINKYGRRSKFGMKGPVAVISGEEDSASP
  LHHINHGITTPSSLDAGPDTVVIGMTRIPVIENPQYFRQGHNCHKPDTYVQHIKRRDIVL
  KRELGEGAFGKVFLAECYNLSPTKDKMLVAVKALKDPTLAARKDFQREAELLTNLQHEHI
  VKFYGVCGDGDPLIMVFEYMKHGDLNKFLRAHGPDAMILVDGQPRQAKGELGLSQMLHIA
  SQIASGMVYLASQHFVHRDLATRNCLVGANLLVKIGDFGMSRDVYSTDYYRLFNPSGNDF
  CIWCEVGGHTMLPIRWMPPESIMYRKFTTESDVWSFGVILWEIFTYGKQPWFQLSNTEVI
  ECITQGRVLERPRVCPKEVYDVMLGCWQREPQQRLNIKEIYKILHALGKATPIYLDILG

• Sequence length: 839

Pathways

KEGG:

Calcium signaling pathway
Neurotrophin signaling pathway
Central carbon metabolism in cancer

Reactome:

Receptor-type tyrosine-protein phosphatases
NTF3 activates NTRK3 signaling
Activated NTRK3 signals through PLCG1
Activated NTRK3 signals through PI3K

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	31127053
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	24705251
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869	19556619
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959, 29119387, 29119387
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382
Lung carcinoma	Carcinoma of lung, Large cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Neuropathy	Neuropathy	rs121913593, rs121913595, rs751050956, rs878853221, rs768554986, rs1553259568, rs1567973091, rs1560046845, rs1567969825, rs1567973088, rs756896276	31127053
Papillary thyroid carcinoma	Papillary thyroid carcinoma	rs751409106	24327398
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, 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	24936775, 19571809, 23727532, 26198764, 19344762

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital mesoblastic nephroma	Congenital Mesoblastic Nephroma		12165445, 16681692
Endometrioma	Endometrioma		21063030
Endometriosis	Endometriosis	rs1800629, rs1143634	21063030
Fibrosarcoma	Fibrosarcoma
Grand mal status epilepticus	Grand Mal Status Epilepticus		8635431
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	18363858, 18367154
Mood disorder	Mood Disorders		18347002
Myeloid leukemia	Acute Myeloid Leukemia, M1		29119387
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		8635431
Petit mal status	Petit mal status		8635431
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		8635431
Thyroid carcinoma	Differentiated thyroid carcinoma