TENM1 (teneurin transmembrane protein 1)

Gene

• Entrez ID: 10178
• Gene name: Teneurin transmembrane protein 1
• Gene symbol: TENM1
• Synonyms (NCBI Gene): ODZ1, ODZ3, TEN-M1, TEN1, TNM, TNM1, ten-1
• Chromosome: X
• Chromosome location: Xq25
• Summary: The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have bee

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT717443	hsa-miR-215-3p	HITS-CLIP	19536157
MIRT717442	hsa-miR-626	HITS-CLIP	19536157
MIRT717441	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT717440	hsa-miR-4536-5p	HITS-CLIP	19536157
MIRT717439	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT717438	hsa-miR-5696	HITS-CLIP	19536157
MIRT717437	hsa-miR-579-3p	HITS-CLIP	19536157
MIRT717436	hsa-miR-664b-3p	HITS-CLIP	19536157
MIRT717435	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT717434	hsa-miR-8060	HITS-CLIP	19536157
MIRT717433	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT441816	hsa-miR-5680	PAR-CLIP	22100165
MIRT441815	hsa-miR-4698	PAR-CLIP	22100165
MIRT441814	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT441812	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441813	hsa-miR-3658	PAR-CLIP	22100165
MIRT441811	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT441810	hsa-miR-4659b-3p	PAR-CLIP	22100165
MIRT441816	hsa-miR-5680	PAR-CLIP	22100165
MIRT441815	hsa-miR-4698	PAR-CLIP	22100165
MIRT441814	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT441812	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441813	hsa-miR-3658	PAR-CLIP	22100165
MIRT441811	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT441810	hsa-miR-4659b-3p	PAR-CLIP	22100165
MIRT717443	hsa-miR-215-3p	HITS-CLIP	19536157
MIRT717442	hsa-miR-626	HITS-CLIP	19536157
MIRT717441	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT717440	hsa-miR-4536-5p	HITS-CLIP	19536157
MIRT717439	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT717438	hsa-miR-5696	HITS-CLIP	19536157
MIRT717437	hsa-miR-579-3p	HITS-CLIP	19536157
MIRT717436	hsa-miR-664b-3p	HITS-CLIP	19536157
MIRT717435	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT717434	hsa-miR-8060	HITS-CLIP	19536157
MIRT717433	hsa-miR-7154-5p	HITS-CLIP	19536157
MIRT441816	hsa-miR-5680	PAR-CLIP	22100165
MIRT441815	hsa-miR-4698	PAR-CLIP	22100165
MIRT441814	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT441812	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441813	hsa-miR-3658	PAR-CLIP	22100165
MIRT441811	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT441810	hsa-miR-4659b-3p	PAR-CLIP	22100165
MIRT441816	hsa-miR-5680	PAR-CLIP	22100165
MIRT441815	hsa-miR-4698	PAR-CLIP	22100165
MIRT441814	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT441812	hsa-miR-3653-3p	PAR-CLIP	22100165
MIRT441813	hsa-miR-3658	PAR-CLIP	22100165
MIRT441811	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT441810	hsa-miR-4659b-3p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	TAS	10341219
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005856	Component	Cytoskeleton	ISS
GO:0005886	Component	Plasma membrane	ISS
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0006359	Process	Regulation of transcription by RNA polymerase III	ISS
GO:0006955	Process	Immune response	TAS	10556288
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	21873635
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007399	Process	Nervous system development	TAS	10341219
GO:0008201	Function	Heparin binding	TAS	10341219
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10556288
GO:0016363	Component	Nuclear matrix	ISS
GO:0016607	Component	Nuclear speck	ISS
GO:0030838	Process	Positive regulation of actin filament polymerization	ISS
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	ISS
GO:0042803	Function	Protein homodimerization activity	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0046982	Function	Protein heterodimerization activity	IBA	21873635
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048666	Process	Neuron development	IBA	21873635
GO:0050839	Function	Cell adhesion molecule binding	IBA	21873635
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0090316	Process	Positive regulation of intracellular protein transport	ISS

Other IDs

• MIM: 300588
• HGNC: 8117
• e!Ensembl: ENSG00000009694

Protein

• UniProt ID: Q9UKZ4
• Protein name: Teneurin-1 (Ten-1) (Protein Odd Oz/ten-m homolog 1) (Tenascin-M1) (Ten-m1) (Teneurin transmembrane protein 1) [Cleaved into: Ten-1 intracellular domain (IDten-1) (Ten-1 ICD); Teneurin C-terminal-associated peptide (TCPA-1) (Ten-1 extracellular domain) (Te
• Protein function: Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity). ; [Teneurin C-terminal-associated peptide]: Play
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06484	Ten_N	14 → 180	Teneurin Intracellular Region	Family
  PF06484	Ten_N	164 → 317	Teneurin Intracellular Region	Family
  PF15636	Tox-GHH	2641 → 2718	GHH signature containing HNH/Endo VII superfamily nuclease toxin	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal brain. {ECO:0000269|PubMed:10341219}.
• Sequence:

  MEQTDCKPYQPLPKVKHEMDLAYTSSSDESEDGRKPRQSYNSRETLHEYNQELRMNYNSQ
  SRKRKEVEKSTQEMEFCETSHTLCSGYQTDMHSVSRHGYQLEMGSDVDTETEGAASPDHA
  LRMWIRGMKSEHSSCLSSRANSALSLTDTDHERKSDGENGFKFSPVCCDMEAQAGSTQDV
  QSSPHNQFTFRPLPPPPPPPHACTCARKPPPAADSLQRRSMTTRSQPSPAAPAPPTSTQD
  SVHLHNSWVLNSNIPLETRHFLFKHGSGSSAIFSAASQNYPLTSNTVYSPPPRPLPRSTF
  SRPAFTFNKPYRCCNWKCTALSATAITVTLALLLAYVIAVHLFGLTWQLQPVEGELYANG
  VSKGNRGTESMDTTYSPIGGKVSDKSEKKVFQKGRAIDTGEVDIGAQVMQTIPPGLFWRF
  QITIHHPIYLKFNISLAKDSLLGIYGRRNIPPTHTQFDFVKLMDGKQLVKQDSKGSDDTQ
  HSPRNLILTSLQETGFIEYMDQGPWYLAFYNDGKKMEQVFVLTTAIEIMDDCSTNCNGNG
  ECISGHCHCFPGFLGPDCARDSCPVLCGGNGEYEKGHCVCRHGWKGPECDVPEEQCIDPT
  CFGHGTCIMGVCICVPGYKGEICEEEDCLDPMCSNHGICVKGECHCSTGWGGVNCETPLP
  VCQEQCSGHGTFLLDAGVCSCDPKWTGSDCSTELCTMECGSHGVCSRGICQCEEGWVGPT
  CEERSCHSHCTEHGQCKDGKCECSPGWEGDHCTIAHYLDAVRDGCPGLCFGNGRCTLDQN
  GWHCVCQVGWSGTGCNVVMEMLCGDNLDNDGDGLTDCVDPDCCQQSNCYISPLCQGSPDP
  LDLIQQSQTLFSQHTSRLFYDRIKFLIGKDSTHVIPPEVSFDSRRACVIRGQVVAIDGTP
  LVGVNVSFLHHSDYGFTISRQDGSFDLVAIGGISVILIFDRSPFLPEKRTLWLPWNQFIV
  VEKVTMQRVVSDPPSCDISNFISPNPIVLPSPLTSFGGSCPERGTIVPELQVVQEEIPIP
  SSFVRLSYLSSRTPGYKTLLRILLTHSTIPVGMIKVHLTVAVEGRLTQKWFPAAINLVYT
  FAWNKTDIYGQKVWGLAEALVSVGYEYETCPDFILWEQRTVVLQGFEMDASNLGGWSLNK
  HHILNPQSGIIHKGNGENMFISQQPPVISTIMGNGHQRSVACTNCNGPAHNNKLFAPVAL
  ASGPDGSVYVGDFNFVRRIFPSGNSVSILELSTSPAHKYYLAMDPVSESLYLSDTNTRKV
  YKLKSLVETKDLSKNFEVVAGTGDQCLPFDQSHCGDGGRASEASLNSPRGITVDRHGFIY
  FVDGTMIRKIDENAVITTVIGSNGLTSTQPLSCDSGMDITQVRLEWPTDLAVNPMDNSLY
  VLDNNIVLQISENRRVRIIAGRPIHCQVPGIDHFLVSKVAIHSTLESARAISVSHSGLLF
  IAETDERKVNRIQQVTTNGEIYIIAGAPTDCDCKIDPNCDCFSGDGGYAKDAKMKAPSSL
  AVSPDGTLYVADLGNVRIRTISRNQAHLNDMNIYEIASPADQELYQFTVNGTHLHTLNLI
  TRDYVYNFTYNSEGDLGAITSSNGNSVHIRRDAGGMPLWLVVPGGQVYWLTISSNGVLKR
  VSAQGYNLALMTYPGNTGLLATKSNENGWTTVYEYDPEGHLTNATFPTGEVSSFHSDLEK
  LTKVELDTSNRENVLMSTNLTATSTIYILKQENTQSTYRVNPDGSLRVTFASGMEIGLSS
  EPHILAGAVNPTLGKCNISLPGEHNANLIEWRQRKEQNKGNVSAFERRLRAHNRNLLSID
  FDHITRTGKIYDDHRKFTLRILYDQTGRPILWSPVSRYNEVNITYSPSGLVTFIQRGTWN
  EKMEYDQSGKIISRTWADGKIWSYTYLEKSVMLLLHSQRRYIFEYDQPDCLLSVTMPSMV
  RHSLQTMLSVGYYRNIYTPPDSSTSFIQDYSRDGRLLQTLHLGTGRRVLYKYTKQARLSE
  VLYDTTQVTLTYEESSGVIKTIHLMHDGFICTIRYRQTGPLIGRQIFRFSEEGLVNARFD
  YSYNNFRVTSMQAVINETPLPIDLYRYVDVSGRTEQFGKFSVINYDLNQVITTTVMKHTK
  IFSANGQVIEVQYEILKAIAYWMTIQYDNVGRMVICDIRVGVDANITRYFYEYDADGQLQ
  TVSVNDKTQWRYSYDLNGNINLLSHGKSARLTPLRYDLRDRITRLGEIQYKMDEDGFLRQ
  RGNDIFEYNSNGLLQKAYNKASGWTVQYYYDGLGRRVASKSSLGQHLQFFYADLTNPIRV
  THLYNHTSSEITSLYYDLQGHLIAMELSSGEEYYVACDNTGTPLAVFSSRGQVIKEILYT
  PYGDIYHDTYPDFQVIIGFHGGLYDFLTKLVHLGQRDYDVVAGRWTTPNHHIWKQLNLLP
  KPFNLYSFENNYPVGKIQDVAKYTTDIRSWLELFGFQLHNVLPGFPKPELENLELTYELL
  RLQTKTQEWDPGKTILGIQCELQKQLRNFISLDQLPMTPRYNDGRCLEGGKQPRFAAVPS
  VFGKGIKFAIKDGIVTADIIGVANEDSRRLAAILNNAHYLENLHFTIEGRDTHYFIKLGS
  LEEDLVLIGNTGGRRILENGVNVTVSQMTSVLNGRTRRFADIQLQHGALCFNIRYGTTVE
  EEKNHVLEIARQRAVAQAWTKEQRRLQEGEEGIRAWTEGEKQQLLSTGRVQGYDGYFVLS
  VEQYLELSDSANNIHFMRQSEIGRR

• Sequence length: 2725

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
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

Unknown
Disease term	Disease name	Evidence	References	Source
Isolated Congenital Anosmia	isolated congenital anosmia			GenCC
Cerebral palsy	cerebral palsy			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	16439987, 23782473, 24097870, 30941955, 34797780
Adenocarcinoma Mucinous	Inhibit	18849918
Adenocarcinoma of Lung	Associate	29311567, 30627227, 31521181, 31881123, 32756002, 33378933, 34217974, 34477147, 37077919, 38241554
Anophthalmia with pulmonary hypoplasia	Associate	24641834
Ataxia Telangiectasia	Associate	38183111
Autism Spectrum Disorder	Associate	30392976
Biliary Tract Neoplasms	Associate	20955617
Breast Neoplasms	Associate	19649706, 22245916, 22496908, 23558933, 25990212, 26339424, 26406239, 27983523, 29719533, 30941950, 31197914, 31790361, 32521854, 32616754, 32618397, 33380715, 33694315, 33971623, 34082648, 34218256, 34362383, 36797689
Carcinoma Ductal Breast	Associate	26261522
Carcinoma Hepatocellular	Associate	15884108, 20977315, 22022601, 25162823, 25638165, 25755745, 26045820, 26191242, 26505457, 28152516, 28821282, 29252188, 29271999, 30473552, 32337237, 33015773, 33435769, 33906640, 34338154, 34522182, 35812416, 36849926, 36936971, 38015711, 38164181, 39244092
Carcinoma Non Small Cell Lung	Associate	20219076, 22363436, 22674300, 23098499, 23423709, 24078447, 24133597, 24294375, 24420151, 25691807, 25755757, 25755784, 26055877, 26305508, 28501870, 28986741, 29745083, 30043429, 31140586, 31208279, 31828834, 31977917, 32386284, 32420681, 32502142, 33345444, 33550920, 34176781, 34193694, 34216509, 34637340, 34774019, 35320997, 35431233, 35449557, 35627232, 35917658, 35936369, 39300525, 39865646
Carcinoma Pancreatic Ductal	Associate	25520129, 33341545
Carcinoma Renal Cell	Associate	11920465, 16340244, 22133010, 24714746, 25826081, 26631537, 26926076, 27050271, 27861513, 32717723, 33710368, 34825321, 35120484, 35525866, 35840930, 36083857, 36097369, 36292781, 37304674, 37729738, 37964226
Carcinoma Signet Ring Cell	Associate	39316894
Carcinoma Squamous Cell	Associate	27748889, 29394946, 35400998, 35611464, 36936942
Charcot Marie Tooth disease Type 1C	Associate	37999119
Cholangiocarcinoma	Associate	26014518, 31059014, 34898474
Colonic Neoplasms	Associate	27732955
Colorectal Neoplasms	Associate	19437569, 20193112, 21533144, 22125029, 22458985, 24560444, 24852431, 24972972, 24978917, 25005166, 25824781, 26339368, 26617820, 26836283, 27350737, 27453340, 27543107, 27639612, 27793161, 27888614, 28465494, 28835319, 29749460, 29762830, 29795620, 29970892, 30126852, 30892955, 30944670, 31350343, 31574832, 31682231, 31683723, 32049807, 32115493, 32484056, 33214609, 33622275, 33827593, 34193174, 34371180, 34373442, 34699318, 34717544, 35034031, 35469225, 35593476, 36103642, 36177832, 36397308, 36841801, 37999119, 38172565
Colorectal Neoplasms	Stimulate	28801584, 31186036, 36806160, 39521798
Colorectal Neoplasms	Inhibit	36503344
Death	Inhibit	26702772
Esophageal Neoplasms	Associate	12632485, 26823803, 27420968, 32103875, 32536038, 33818145, 34046994, 36247858, 7559092
Esophageal Squamous Cell Carcinoma	Associate	21556122, 23955799, 24188482, 24272087, 26662958, 27044807, 29397026, 29747775, 30611100, 32005248, 32572924, 32589328, 33432363, 36267307, 37017121, 37417427
Gallbladder Neoplasms	Associate	30086773, 31882471
Gastrointestinal Stromal Tumors	Associate	25400808
Glioblastoma	Associate	34376733, 35054927
Head and Neck Neoplasms	Associate	35140722
Hearing Loss	Associate	33713422
Hypoxia	Stimulate	35054927
Hypoxia	Associate	37180146
Infections	Associate	36262984
Klatskin Tumor	Associate	28428711
Laryngeal Neoplasms	Associate	28052013
Lung Neoplasms	Associate	22528947, 24070213, 26860827, 29935018, 30176158, 32646340, 32772818, 39258530, 39311787, 8611403
Lymphatic Metastasis	Stimulate	11449307
Lymphatic Metastasis	Associate	36454780
Mesothelioma Malignant	Associate	37147569
Microsatellite Instability	Associate	36479114
Mouth Neoplasms	Associate	25511050
Myopathies Structural Congenital	Associate	31521128, 32313718
Nasopharyngeal Carcinoma	Associate	18171482, 26191775, 26310711, 26634210, 27629742, 27658775, 28389646, 30361907, 31375471, 31884829, 34165442, 34994235, 39265506
Nasopharyngeal Neoplasms	Associate	27048285
Neoplasm Metastasis	Associate	36454780
Neoplasms	Associate	16012517, 16437597, 19503063, 19649706, 19757198, 20558745, 22219033, 22837720, 23151618, 23244569, 23281640, 23991686, 24136747, 24363061, 25104873, 25292074, 25520129, 25635973, 26617879, 26709095, 26738864, 26884888, 28412955, 29463194, 29642180, 29687840, 31364748, 31578148, 31775679, 32092817, 32164602, 32193503, 32309427, 32443323, 33277855, 33345444, 33498866, 34216509, 34717544, 35692499, 35707044, 36424637, 36454780, 37763742, 9328308
Neoplasms	Stimulate	32666646, 34376733
Neoplasms Squamous Cell	Associate	31229921
Non functioning pancreatic endocrine tumor	Associate	22089920
Oculocutaneous albinism type 2	Stimulate	29135092
Osteosarcoma	Associate	27396430, 29194827, 30840263
Ovarian Neoplasms	Associate	31539115, 31985007
Pancreatic Neoplasms	Associate	22458379, 24667580, 27447976, 30178840, 30575904, 33341545, 36782176
Penile Neoplasms	Associate	37763742
Prostatic Neoplasms	Associate	31421977, 33460399, 37971439
Rectal Neoplasms	Associate	17589956
Sarcoma Synovial	Associate	29670090
Squamous Cell Carcinoma of Head and Neck	Associate	26311049, 28338203, 28384094, 28539817, 30454973, 30556871, 32641093, 32661668, 32711434, 32993417, 34164962, 34257607, 34416845, 35813482, 37986347
Stomach Neoplasms	Associate	12854132, 15655810, 15849807, 16830385, 19865524, 20164037, 22017425, 22246605, 22296392, 23722300, 23870553, 23936528, 23980896, 24063685, 24116074, 24175801, 24712400, 25197381, 25220301, 25337233, 25741138, 26191203, 26261590, 26514456, 26738864, 26823707, 27793161, 28293092, 28440445, 29036784, 29416011, 31005794, 31526099, 31722712, 31814518, 32462010, 32495872, 32632900, 33316803, 33993193, 34953081, 35027539, 35123909, 35770962, 36098904, 36241983, 36316865, 36454780, 36479114, 36793271, 37545221, 38166744, 8795580
Thyroid Cancer Papillary	Associate	11752453, 25674762, 27929737, 29321094, 30986203, 36193505, 36465624, 37733241
Thyroid Neoplasms	Associate	22577338, 32164602, 32633373, 34221185, 40198658
Thyroid Nodule	Associate	32164602
Tongue Neoplasms	Associate	23083099
Triple Negative Breast Neoplasms	Associate	33495420
Urinary Bladder Neoplasms	Associate	26503215, 27015551, 28445936, 28869948, 29917188, 33888644, 34530089, 34565011, 39578844
Urologic Neoplasms	Associate	36675289
Uterine Cervical Neoplasms	Associate	25550851, 26436510, 29509241
Wiskott Aldrich Syndrome	Stimulate	32377706