GLI1 (GLI family zinc finger 1)

Gene

• Entrez ID: 2735
• Gene name: GLI family zinc finger 1
• Gene symbol: GLI1
• Synonyms (NCBI Gene): GLI, PAPA8, PPD1
• Disease Acronyms (UniProt): PAPA8, PPD1
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs748321474	C>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, synonymous variant
rs1309855392	G>A	Pathogenic	Coding sequence variant, stop gained
rs1565601979	C>T	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000530	hsa-miR-324-5p	Review, Luciferase reporter assay, Western blot	20216554
MIRT000350	hsa-miR-125b-5p	Luciferase reporter assay	18756266
MIRT000530	hsa-miR-324-5p	Luciferase reporter assay	18756266
MIRT000082	hsa-miR-326	Luciferase reporter assay	18756266
MIRT017728	hsa-miR-335-5p	Microarray	18185580
MIRT053565	hsa-miR-202-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23936094
MIRT053565	hsa-miR-202-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23936094
MIRT053596	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24443799
MIRT053596	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	24443799
MIRT736346	hsa-miR-873-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32010295
MIRT736350	hsa-miR-584-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32104266

Transcription factors

Transcription factor	Regulation	Reference
SMAD2	Unknown	24739390
SMAD4	Unknown	24739390

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	17035233
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	18298960
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001649	Process	Osteoblast differentiation	IDA	12165851
GO:0003677	Function	DNA binding	IDA	9118802
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	10564661, 10806483, 11238441, 20818436, 22439934, 23395608, 24217340, 24311597, 25241761, 25416956, 25609649, 25910212, 28965847, 32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	10806483, 11238441, 19878745
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10504446, 11238441, 16229683, 19878745
GO:0005829	Component	Cytosol	IDA	18559511
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IDA	19878745, 31279575
GO:0007224	Process	Smoothened signaling pathway	TAS	11001584
GO:0007283	Process	Spermatogenesis	IEA
GO:0007418	Process	Ventral midline development	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	12165851
GO:0008589	Process	Regulation of smoothened signaling pathway	TAS	11238441
GO:0009611	Process	Response to wounding	IEA
GO:0009913	Process	Epidermal cell differentiation	IDA	12165851
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0021696	Process	Cerebellar cortex morphogenesis	IEA
GO:0021938	Process	Smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030850	Process	Prostate gland development	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045740	Process	Positive regulation of DNA replication	IDA	12165851
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	17035233
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11238441, 12165851, 17035233
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9118802, 10693759, 12165851
GO:0046872	Function	Metal ion binding	IEA
GO:0048546	Process	Digestive tract morphogenesis	TAS	11001584
GO:0060032	Process	Notochord regression	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IDA	28583401
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	17035233
GO:0097421	Process	Liver regeneration	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	TAS
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IDA	28583401
GO:2000345	Process	Regulation of hepatocyte proliferation	IEA

Other IDs

• MIM: 165220
• HGNC: 4317
• e!Ensembl: ENSG00000111087

Protein

• UniProt ID: P08151
• Protein name: Zinc finger protein GLI1 (Glioma-associated oncogene) (Oncogene GLI)
• Protein function: Acts as a transcriptional activator (PubMed:10806483, PubMed:19706761, PubMed:19878745, PubMed:24076122, PubMed:24217340, PubMed:24311597). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:24217340, PubMed:8378770). Re
• PDB: 2GLI, 4BLB, 4KMD, 5OM0, 7T91
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	268 → 295	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	301 → 325	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	362 → 387	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in testis (at protein level) (PubMed:2105456). Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract (PubMed:19878745). Isoform 1 is detec
• Sequence:

  MFNSMTPPPISSYGEPCCLRPLPSQGAPSVGTEGLSGPPFCHQANLMSGPHSYGPARETN
  SCTEGPLFSSPRSAVKLTKKRALSISPLSDASLDLQTVIRTSPSSLVAFINSRCTSPGGS
  YGHLSIGTMSPSLGFPAQMNHQKGPSPSFGVQPCGPHDSARGGMIPHPQSRGPFPTCQLK
  SELDMLVGKCREEPLEGDMSSPNSTGIQDPLLGMLDGREDLEREEKREPESVYETDCRWD
  GCSQEFDSQEQLVHHINSEHIHGERKEFVCHWGGCSRELRPFKAQYMLVVHMRRHTGEKP
  HKCTFEGCRKSYSRLENLKTHLRSHTGEKPYMCEHEGCSKAFSNASDRAKHQNRTHSNEK
  PYVCKLPGCTKRYTDPSSLRKHVKTVHGPDAHVTKRHRGDGPLPRAPSISTVEPKREREG
  GPIREESRLTVPEGAMKPQPSPGAQSSCSSDHSPAGSAANTDSGVEMTGNAGGSTEDLSS
  LDEGPCIAGTGLSTLRRLENLRLDQLHQLRPIGTRGLKLPSLSHTGTTVSRRVGPPVSLE
  RRSSSSSSISSAYTVSRRSSLASPFPPGSPPENGASSLPGLMPAQHYLLRARYASARGGG
  TSPTAASSLDRIGGLPMPPWRSRAEYPGYNPNAGVTRRASDPAQAADRPAPARVQRFKSL
  GCVHTPPTVAGGGQNFDPYLPTSVYSPQPPSITENAAMDARGLQEEPEVGTSMVGSGLNP
  YMDFPPTDTLGYGGPEGAAAEPYGARGPGSLPLGPGPPTNYGPNPCPQQASYPDPTQETW
  GEFPSHSGLYPGPKALGGTYSQCPRLEHYGQVQVKPEQGCPVGSDSTGLAPCLNAHPSEG
  PPHPQPLFSHYPQPSPPQYLQSGPYTQPPPDYLPSEPRPCLDFDSPTHSTGQLKAQLVCN
  YVQSQQELLWEGGGREDAPAQEPSYQSPKFLGGSQVSPSRAKAPVNTYGPGFGPNLPNHK
  SGSYPTPSPCHENFVVGANRASHRAAAPPRLLPPLPTCYGPLKVGGTNPSCGHPEVGRLG
  GGPALYPPPEGQVCNPLDSLDLDNTQLDFVAILDEPQGLSPPPSHDQRGSSGHTPPPSGP
  PNMAVGNMSVLLRSLPGETEFLNSSA

• Sequence length: 1106

Pathways

KEGG:

cAMP signaling pathway
Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma

Reactome:

Degradation of GLI1 by the proteasome
Hedgehog 'off' state
Hedgehog 'on' state
GLI proteins bind promoters of Hh responsive genes to promote transcription

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
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
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	21625222
Ellis-van creveld syndrome	Ellis Van Creveld syndrome, Ellis-Van Creveld Syndrome	rs1265421045, rs137852924, rs137852925, rs137852926, rs137852927, rs794726665, rs121908424, rs121908425, rs587776619, rs121908426, rs794726666, rs1302074641, rs146538906, rs751356206, rs886037764, rs886037763, rs548681312, rs200300612, rs150814290, rs146475474, rs965707319, rs767913372, rs1553815019, rs376133710, rs769864196, rs761707323, rs748523193, rs755381180, rs765269619, rs1553891936, rs759106605, rs1017946059, rs1553876034, rs1553812417, rs1424976594, rs1553865346, rs1553876870, rs753581033, rs760066386, rs1553833239, rs767072839, rs777505711, rs1553849894, rs1553855074, rs1553855151, rs1485152854, rs1553871764, rs1553871866, rs527255616, rs1553873138, rs760607210, rs1169539647, rs770918273, rs762947212, rs1553837446, rs1553811863, rs1307502841, rs1553851870, rs781096099, rs1553818428, rs1447633595, rs749251178, rs769799880, rs992326794, rs1431987950, rs1553836169, rs772840335, rs1553867117, rs1553873969, rs909612975, rs1262933856, rs755789146, rs1553889992, rs773019082, rs1553892090, rs1305301849, rs1553850677, rs1553895755, rs778793911, rs1553851462, rs760382778, rs1007534611, rs73198165, rs1553855127, rs1490912913, rs1430962566, rs1553857801, rs1159758018, rs1553840713, rs763363403, rs1553857995, rs1294715119, rs1553871792, rs1236566474, rs1553852469, rs1214848359, rs1420414097, rs1221185345, rs1300178432, rs1477102573, rs1553876813, rs764397417, rs1553857828, rs1553891368, rs1363547577, rs1553867138, rs779915989, rs1553886849, rs753014919, rs779275317, rs1553894457, rs1553895776, rs1437174284, rs777852863, rs762795511, rs1577638781, rs1722451930, rs758841632, rs767400887	28973407
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Mental retardation	Intellectual Disability	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
Polydactyly	POLYDACTYLY, POSTAXIAL, Polydactyly preaxial type 1, POLYDACTYLY, POSTAXIAL, TYPE A8	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	30620395
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Ellis-Van Creveld Syndrome	Ellis-van Creveld syndrome			GenCC
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	16810741, 17461467, 25134527
Adenocarcinoma of Lung	Associate	25103784
Adnexal Diseases	Associate	35387638
Ameloblastoma	Associate	35863182
Arthritis Rheumatoid	Associate	24741597
Asthma	Associate	39643224
Astrocytoma	Associate	21059263
Basal Cell Nevus Syndrome	Associate	31758086
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	35972041
Brachydactyly type A1	Associate	30651074
Breast Neoplasms	Stimulate	16855373, 32150666
Breast Neoplasms	Associate	19414322, 19706168, 19902354, 21442356, 21666711, 22302350, 22797820, 24889938, 25501705, 25503972, 25915429, 26182949, 26413813, 26526577, 27689403, 28112165, 28370734, 29329585, 29734730, 30420690, 31036836, 31759986, 32894284, 33299122, 34907995
Buschke Lowenstein Tumor	Inhibit	36704875
Calcifying Epithelial Odontogenic Tumor	Associate	36287504
Carcinogenesis	Associate	16810741, 19329935, 21082031, 22391302, 24384722, 26617716, 26744317, 28623188, 28664474, 30098229, 33313950
Carcinoid Tumor	Associate	17102592
Carcinoma	Associate	21618411
Carcinoma Adenoid Cystic	Associate	26790448
Carcinoma Basal Cell	Associate	10504446, 11886539, 15175043, 16880536, 18754037, 23762360, 23995793, 26765315, 32319607, 33509032
Carcinoma Basal Cell	Stimulate	11348463, 31756206
Carcinoma Ductal	Associate	18636275, 21091847, 26744317
Carcinoma Hepatocellular	Associate	16397407, 18203291, 22543708, 23185371, 25017332, 25855960, 28794318, 29115520, 29237157, 29722127, 30536311, 31375600, 32108992, 32354204, 37380646, 38097536, 39174588
Carcinoma Mucoepidermoid	Associate	26790448
Carcinoma Neuroendocrine	Associate	17102592
Carcinoma Non Small Cell Lung	Associate	19575820, 23284751, 25141859, 25586417, 30126075, 31931858
Carcinoma Non Small Cell Lung	Stimulate	24710823, 26297432
Carcinoma Ovarian Epithelial	Associate	33313950
Carcinoma Pancreatic Ductal	Associate	17353198, 22086851, 23626687, 26318045, 26505381, 27758883, 36536047, 37477952
Carcinoma Renal Cell	Associate	21082031, 37964226
Carcinoma Renal Cell	Stimulate	35266008
Carcinoma Squamous Cell	Associate	16778829, 16810741, 24758269, 33477943, 35933574
Cardiovascular Diseases	Associate	37151880
Cell Transformation Viral	Associate	30171262
Cell Transformation Viral	Stimulate	30171262
Cerulean cataract	Associate	31567194
Cholangiocarcinoma	Associate	28794318, 36807728
Chondrosarcoma	Associate	24384722
Chondrosarcoma	Stimulate	37488121
Choriocarcinoma	Associate	25265279
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	18068533
Chromosome Disorders	Associate	22809693
Ciliopathies	Stimulate	36553637
Colonic Neoplasms	Associate	17461467, 20957031, 21135115, 21747117, 21860067, 23097684, 24470513, 24962990
Colorectal Neoplasms	Inhibit	16299030
Colorectal Neoplasms	Associate	17461467, 20957031, 21860067, 22901214, 23097684, 24086482, 24368541, 24962990, 25386960, 26617716, 27458094, 28148279, 28161934, 28664474, 29164577, 30570857, 31253868, 32814794, 33067422, 33214609, 34376787
Colorectal Neoplasms	Stimulate	22745574
Craniosynostoses	Associate	32575385
Cytomegalovirus Infections	Associate	15482598
Dermatitis Perioral	Associate	29423837
Diabetes Mellitus Type 2	Associate	37454090
DNA Virus Infections	Associate	34748904
Drug Related Side Effects and Adverse Reactions	Stimulate	18203291
Drug Related Side Effects and Adverse Reactions	Associate	25253693
Dyskinesia Familial with Facial Myokymia	Associate	35933574
Dyssomnias	Associate	28728163
Ellis Van Creveld Syndrome	Associate	37684519
Endometrial Hyperplasia	Associate	19329935, 28747625
Endometrial Neoplasms	Associate	19329935, 23167388, 36745477
Endometrial Neoplasms	Stimulate	36285283
Endometrial Stromal Tumors	Associate	33077922
Endometriosis	Stimulate	29980254
Endometriosis	Associate	36285283
Esophageal Neoplasms	Associate	18475300, 29081413, 29125483, 30807555
Esophageal Squamous Cell Carcinoma	Stimulate	29081413
Fibrocystic Breast Disease	Associate	21091847
Fibroma	Associate	27101025, 29309307, 31362756, 37165307
Fibrosis	Associate	23031257, 33418093
Foot Deformities	Associate	19223936
Fractures Bone	Associate	37658451
Gallbladder Neoplasms	Associate	26715268
Gastrointestinal Stromal Tumors	Associate	17007023, 27793025
GATA2 Deficiency	Associate	31724562
Genetic Diseases Inborn	Associate	34907995, 35387638
Glioblastoma	Associate	11351043, 19706761, 20406234, 21321483, 22391302, 22406999, 25144716, 25595187, 25775002, 26085085, 26482617, 27819521, 28477008, 28623188, 30260647
Glioma	Associate	20957337, 21321483, 23287320, 24706306, 24867209, 26085085, 26339341, 27002148, 27662839, 27819521, 28446712, 28556364, 28623188, 29687851, 30730955, 35603730, 37830570
Glioma	Stimulate	27157540
Glomus Tumor	Associate	34907995
Glucosephosphate Dehydrogenase Deficiency	Associate	33759282
Head and Neck Neoplasms	Associate	27918595, 31934916, 35933574
Heart Defects Congenital	Associate	32629623
Hemochromatosis	Associate	23287320
Hepatoblastoma	Associate	21159571
Hepatolenticular Degeneration	Associate	38621503
Hirschsprung Disease	Associate	29484400
Hodgkin Disease	Associate	21531006
Hydatidiform Mole	Inhibit	25265279
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	30420690
Hypoxia	Stimulate	21338440, 29237157, 30402835, 35603730, 36285283
Hypoxia	Associate	23786654, 25501705, 27486656, 33418093, 36725745
Hypoxia Brain	Stimulate	24513179, 30402835, 36285283
Hypoxia Brain	Associate	35603730
Idiopathic Pulmonary Fibrosis	Associate	23023967, 23031257, 27486656
Idiopathic Pulmonary Fibrosis	Stimulate	29477141
Inflammation	Associate	23023967, 36725745
Inflammatory Breast Neoplasms	Associate	21505458
Intestinal Neoplasms	Associate	17007023
Irritable Bowel Syndrome	Associate	30802137
Kidney Neoplasms	Associate	34907995
Leiomyoma	Associate	17007023
Leiomyosarcoma	Associate	33396427, 34907995
Leukemia	Associate	32708452
Leukemia Lymphocytic Chronic B Cell	Associate	19074837, 22130798, 30923040
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	21235817
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26934052
Leukemia Myeloid Acute	Associate	27008269, 28098170, 28109323
Liposarcoma	Associate	38621503, 40540926
Liposarcoma Myxoid	Associate	35933574
Liver Diseases	Associate	28187190
Lung Neoplasms	Associate	22768056, 26936993, 33433063
Lymphatic Metastasis	Associate	18475300, 18636275, 22797820, 26107686, 30807555, 35387638
Lymphatic Metastasis	Stimulate	21861243, 22745574, 25060182, 25120849
Lymphoma B Cell	Associate	9250147
Lymphoma Large B Cell Diffuse	Associate	19593328, 21625222, 22809693, 23580656, 26603838, 9639522
Lymphoma T Cell	Associate	27275540
Malignant mesenchymal tumor	Associate	31934916
Medulloblastoma	Associate	17200206, 21059263, 23762360, 23995793, 25775002, 27601167, 28716052, 30098229, 30197333, 33978203, 35802536
Melanoma	Associate	27748762, 31462745, 36866769
Mesothelioma	Associate	25422081, 26218750, 30197333
Mesothelioma	Stimulate	37139482
Mesothelioma Malignant	Associate	24094913, 25422081, 26218750, 30197333, 37139482
Microphthalmos	Stimulate	27748762
Microsatellite Instability	Associate	28664474
Muscular Diseases	Associate	37914731
Myelodysplastic Syndromes	Associate	30171262
Myopathy due to Malate Aspartate Shuttle Defect	Associate	36803776
Neoplasm Invasiveness	Associate	21861243
Neoplasm Metastasis	Associate	21091847, 21357786, 22745574, 22797820, 23284751, 24758269, 25586417, 25772244, 27157540, 27689403, 27836001, 29125483, 29164577, 29309307, 29329585, 31253868, 31567194, 31934916, 32242101, 32430068, 33299122, 36285283
Neoplasm Metastasis	Stimulate	21442356, 26413813, 27825128
Neoplasms	Associate	14552656, 15111311, 15482598, 16855373, 16880536, 17035233, 18475300, 19545120, 19706761, 19902354, 19948058, 20333644, 20406234, 21082031, 21091847, 21159571, 2118997, 21861243, 21868511, 22361633, 22391302, 22543708, 22797820, 22901214, 24058673, 24085196, 24086482, 24223768, 24726458, 24739390, 24889938, 24962990, 25060182, 25103784, 25253693, 25889244, 25915429, 26107686, 26182949, 26189795, 26318045, 26349604, 26413813, 26459048, 26482617, 26505381, 26765315, 26868908, 27255164, 27275540, 27836001, 27863397, 27939373, 28161934, 28245563, 28300597, 28664474, 28716052, 28728163, 28847472, 29164577, 29309307, 29329585, 29339090, 29423837, 29687851, 30197333, 30201866, 30420690, 30807555, 30861166, 31189998, 31462745, 31567194, 31588709, 31931858, 31934916, 32354204, 32430068, 32879407, 33433063, 34907995, 35266008, 35387638, 35508126, 35867772, 35933574, 37151880, 37165307, 37477952, 37516000, 38008751, 38048859, 38621503, 40540926, 9250147
Neoplasms	Stimulate	16810741, 17083567, 27825128, 29230040, 36807728
Neoplasms	Inhibit	23287320, 23900341, 31759986
Neoplasms Squamous Cell	Associate	26936993
Neurilemmoma	Associate	17007023
Neuroblastoma	Associate	20830616, 23900341, 25134527, 28393230, 34217898
Neuroectodermal Tumors Primitive Peripheral	Associate	20480407
Neurofibroma Plexiform	Associate	15255999
Neuroma Acoustic	Associate	37026948
Osteoporosis	Associate	37335694, 37454090
Osteosarcoma	Associate	22868198, 33099957
Osteosarcoma	Stimulate	39457084
Ovarian Neoplasms	Associate	17083567, 17487419, 19028702, 20428807, 22142828, 23555905, 30736319, 32242101, 33313950
Pancreatic Neoplasms	Associate	15970691, 18410405, 19902354, 21494603, 22086851, 22110720, 22450749, 23762360, 24513179, 25072505, 25120849, 26815504, 27349387, 27758883, 35867772, 37198697, 37477952
Pancreatitis	Associate	23029396
Perivascular Epithelioid Cell Neoplasms	Associate	29309307
Personality Disorders	Associate	25103784
Polycystic Ovary Syndrome	Associate	34873972
Polydactyly	Associate	31115189
Polydactyly Postaxial	Associate	37684519
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	34203724
Prostatic Neoplasms	Associate	15314219, 16507112, 20333644, 20420697, 21633508, 23337877, 29429990, 31134918, 32867229, 34290270, 35805202, 38008751, 38048859
Prostatic Neoplasms Castration Resistant	Associate	27826729, 35834137
Prostatitis	Associate	15314219
Prostatitis	Inhibit	21707705
Pulmonary Fibrosis	Associate	27486656
Pyruvate Carboxylase Deficiency Disease	Associate	25072505
Recombinant chromosome 8 syndrome	Associate	34748904
Rhabdomyosarcoma	Associate	21618411, 32493277
Rhabdomyosarcoma	Stimulate	24743780
Rhabdomyosarcoma Alveolar	Associate	24551291
Rhabdomyosarcoma Embryonal	Associate	21618411, 24551291
Sarcoma	Associate	29309307, 32493277, 32567826
Sarcoma Endometrial Stromal	Associate	34907995
Sarcoma Ewing	Associate	19859563, 32493277
Skin Diseases	Stimulate	33509032
Skin Neoplasms	Associate	28300597
Small Cell Lung Carcinoma	Associate	29479989, 31538424
Soft Tissue Neoplasms	Associate	15111311, 31189998, 31934916, 35933574
Squamous Cell Carcinoma of Head and Neck	Associate	21357786, 26768620, 29507910, 30172250, 30861166, 32846867, 32899202, 33418093
Squamous Cell Carcinoma of Head and Neck	Stimulate	24223768
Stomach Neoplasms	Associate	16810741, 19930158, 24081672, 27836001, 28847472, 29309307, 29596399, 30402844, 32053639, 32430068, 34126195, 36346167
Tachycardia Atrioventricular Nodal Reentry	Associate	29329585
Tertiary Lymphoid Structures	Associate	21091847, 22797820
Thymoma	Associate	16302728
Thyroid Cancer Papillary	Associate	25060182, 26107686
Thyroid Carcinoma Anaplastic	Associate	25078145, 35491899
Thyroid Neoplasms	Associate	25078145, 33966040
Thyroiditis	Associate	25078145
Tourette Syndrome	Stimulate	25772244
Triple Negative Breast Neoplasms	Associate	25068292, 26963129, 34748904
Urinary Bladder Neoplasms	Associate	21861243, 24856810
Uterine Diseases	Associate	28747625
Uterine Neoplasms	Associate	34907995
Vitiligo	Associate	29054607
Warburg Sjo Fledelius syndrome	Associate	36455049
Warts	Associate	36704875