LEF1 (lymphoid enhancer binding factor 1)

Gene

• Entrez ID: 51176
• Gene name: Lymphoid enhancer binding factor 1
• Gene symbol: LEF1
• Synonyms (NCBI Gene): ECTD1, ECTD17, LEF-1, TCF10, TCF1ALPHA, TCF7L3
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereb

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016343	hsa-miR-193b-3p	Microarray	20304954
MIRT025380	hsa-miR-34a-5p	Reporter assay;Proteomics	21566225
MIRT053004	hsa-miR-218-5p	Luciferase reporter assay, Western blot	22766851
MIRT053005	hsa-miR-449a	Luciferase reporter assay, qRT-PCR, Western blot	22769578
MIRT054053	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT054053	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT054053	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT054053	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT437781	hsa-miR-452-5p	A172	23695168
MIRT025380	hsa-miR-34a-5p	Luciferase reporter assay, Western blot, Microarray	25587085
MIRT025380	hsa-miR-34a-5p	Luciferase reporter assay, Western blot, Microarray	25587085
MIRT025380	hsa-miR-34a-5p	qRT-PCR, Western blot	28098757
MIRT025380	hsa-miR-34a-5p	Microarray	32102688
MIRT735776	hsa-let-7i-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Flow cytometry	31753039
MIRT053005	hsa-miR-449a	Microarray	31513434
MIRT756381	hsa-miR-34a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence, In situ hybridization	36611960
MIRT1107200	hsa-miR-1	CLIP-seq
MIRT1107201	hsa-miR-1258	CLIP-seq
MIRT1107202	hsa-miR-1265	CLIP-seq
MIRT1107203	hsa-miR-1297	CLIP-seq
MIRT1107204	hsa-miR-206	CLIP-seq
MIRT1107205	hsa-miR-2392	CLIP-seq
MIRT1107206	hsa-miR-26a	CLIP-seq
MIRT1107207	hsa-miR-26b	CLIP-seq
MIRT1107208	hsa-miR-3065-3p	CLIP-seq
MIRT1107209	hsa-miR-3673	CLIP-seq
MIRT1107210	hsa-miR-4465	CLIP-seq
MIRT1107211	hsa-miR-4471	CLIP-seq
MIRT1107212	hsa-miR-4481	CLIP-seq
MIRT1107213	hsa-miR-4528	CLIP-seq
MIRT1107214	hsa-miR-4645-3p	CLIP-seq
MIRT1107215	hsa-miR-4680-5p	CLIP-seq
MIRT1107216	hsa-miR-4729	CLIP-seq
MIRT1107217	hsa-miR-4745-5p	CLIP-seq
MIRT1107218	hsa-miR-548p	CLIP-seq
MIRT1107219	hsa-miR-583	CLIP-seq
MIRT1107220	hsa-miR-607	CLIP-seq
MIRT1107221	hsa-miR-613	CLIP-seq
MIRT1107222	hsa-miR-616	CLIP-seq
MIRT1107223	hsa-miR-629	CLIP-seq
MIRT1107224	hsa-miR-651	CLIP-seq
MIRT2260522	hsa-miR-371-5p	CLIP-seq
MIRT2260523	hsa-miR-4434	CLIP-seq
MIRT2260524	hsa-miR-4516	CLIP-seq
MIRT2260525	hsa-miR-4786-3p	CLIP-seq
MIRT2560532	hsa-miR-1208	CLIP-seq
MIRT2560533	hsa-miR-4325	CLIP-seq
MIRT2560534	hsa-miR-450b-5p	CLIP-seq
MIRT2560535	hsa-miR-507	CLIP-seq
MIRT2560536	hsa-miR-557	CLIP-seq
MIRT2560532	hsa-miR-1208	CLIP-seq
MIRT2560533	hsa-miR-4325	CLIP-seq
MIRT2560534	hsa-miR-450b-5p	CLIP-seq
MIRT2560535	hsa-miR-507	CLIP-seq
MIRT2560536	hsa-miR-557	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AES	Activation	20676368
LMO2	Repression	22517897
PAX5	Activation	9545244
PITX2	Activation	17785445
ZBTB16	Unknown	19723763

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23001182
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	7657162, 16344550, 17063141, 18579517, 19351848, 20128911, 20363964
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	23001182
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEP	20128911
GO:0001756	Process	Somitogenesis	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11751639
GO:0005515	Function	Protein binding	IPI	9751710, 12192039, 17510365, 17517646, 18077326, 18936100, 19460168, 20123964, 21743491, 22261717, 23001182, 29540185, 32911434
GO:0005634	Component	Nucleus	IC
GO:0005634	Component	Nucleus	IDA	17063141, 18579517, 18936100, 23001182
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	11751639, 23001182
GO:0005737	Component	Cytoplasm	IDA	19402906, 23001182
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007223	Process	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0008013	Function	Beta-catenin binding	IDA	9488439
GO:0008013	Function	Beta-catenin binding	IPI	10825188, 12408825, 18936100, 20123964, 20360943
GO:0008013	Function	Beta-catenin binding	TAS	16344550
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	19351848
GO:0008301	Function	DNA binding, bending	ISS
GO:0010628	Process	Positive regulation of gene expression	IDA	16344550
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	20018240
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021861	Process	Forebrain radial glial cell differentiation	IEA
GO:0021873	Process	Forebrain neuroblast division	IEA
GO:0021943	Process	Formation of radial glial scaffolds	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030223	Process	Neutrophil differentiation	IMP	17063141
GO:0030284	Function	Estrogen receptor activity	IDA	18794125
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030331	Function	Estrogen receptor binding	IDA	18794125
GO:0030335	Process	Positive regulation of cell migration	IMP	20018240
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030854	Process	Positive regulation of granulocyte differentiation	IDA	19620402
GO:0030854	Process	Positive regulation of granulocyte differentiation	IMP	23001182
GO:0030879	Process	Mammary gland development	IEA
GO:0032696	Process	Negative regulation of interleukin-13 production	IDA	18445004
GO:0032713	Process	Negative regulation of interleukin-4 production	IDA	18445004
GO:0032714	Process	Negative regulation of interleukin-5 production	IDA	18445004
GO:0032993	Component	Protein-DNA complex	IDA	10825188
GO:0033153	Process	T cell receptor V(D)J recombination	IEA
GO:0042100	Process	B cell proliferation	IEA
GO:0042393	Function	Histone binding	IPI	20363964
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	18936100
GO:0043066	Process	Negative regulation of apoptotic process	IMP	20360943
GO:0043392	Process	Negative regulation of DNA binding	IDA	18445004
GO:0043401	Process	Steroid hormone mediated signaling pathway	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	10825188
GO:0043586	Process	Tongue development	IEA
GO:0043923	Process	Positive regulation by host of viral transcription	IDA	7657162
GO:0043966	Process	Histone H3 acetylation	IMP	20363964
GO:0043967	Process	Histone H4 acetylation	IMP	20363964
GO:0045063	Process	T-helper 1 cell differentiation	ISS
GO:0045295	Function	Gamma-catenin binding	IPI	14661054
GO:0045588	Process	Positive regulation of gamma-delta T cell differentiation	ISS
GO:0045843	Process	Negative regulation of striated muscle tissue development	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	18794125
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	18579517, 20363964
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	7657162, 10644691, 17063141, 19620402, 20128911
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	19351848
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11751639, 23001182
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23001182
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048341	Process	Paraxial mesoderm formation	IEA
GO:0050909	Process	Sensory perception of taste	IEA
GO:0060033	Process	Anatomical structure regression	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA	21873635
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10644691, 20123964
GO:0060325	Process	Face morphogenesis	IEA
GO:0060326	Process	Cell chemotaxis	IDA	19576624
GO:0060710	Process	Chorio-allantoic fusion	IEA
GO:0061153	Process	Trachea gland development	IEA
GO:0062009	Process	Secondary palate development	ISS
GO:0070016	Function	Armadillo repeat domain binding	IPI	12408825
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	18445004
GO:0071345	Process	Cellular response to cytokine stimulus	IMP	23001182
GO:0071353	Process	Cellular response to interleukin-4	IDA	18579517
GO:0071864	Process	Positive regulation of cell proliferation in bone marrow	IMP	17063141
GO:0071866	Process	Negative regulation of apoptotic process in bone marrow cell	IMP	17063141
GO:0071899	Process	Negative regulation of estrogen receptor binding	IDA	18794125
GO:1902262	Process	Apoptotic process involved in blood vessel morphogenesis	IEA
GO:1904837	Process	Beta-catenin-TCF complex assembly	TAS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990907	Component	Beta-catenin-TCF complex	IBA	21873635
GO:1990907	Component	Beta-catenin-TCF complex	IPI	18936100

Other IDs

• MIM: 153245
• HGNC: 6551
• e!Ensembl: ENSG00000138795

Protein

• UniProt ID: Q9UJU2
• Protein name: Lymphoid enhancer-binding factor 1 (LEF-1) (T cell-specific transcription factor 1-alpha) (TCF1-alpha)
• Protein function: Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG anta
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08347	CTNNB1_binding	1 → 213	N-terminal CTNNB1 binding	Family
  PF00505	HMG_box	299 → 367	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in thymus. Not detected in normal colon, but highly expressed in colon cancer biopsies and colon cancer cell lines. Expressed in several pancreatic tumors and weakly expressed in normal pancreatic tissue. Isoforms 1 and 5 are
• Sequence:

  MPQLSGGGGGGGGDPELCATDEMIPFKDEGDPQKEKIFAEISHPEEEGDLADIKSSLVNE
  SEIIPASNGHEVARQAQTSQEPYHDKAREHPDDGKHPDGGLYNKGPSYSSYSGYIMMPNM
  NNDPYMSNGSLSPPIPRTSNKVPVVQPSHAVHPLTPLITYSDEHFSPGSHPSHIPSDVNS
  KQGMSRHPPAPDIPTFYPLSPGGVGQITPPLGWQGQPVYPITGGFRQPYPSSLSVDTSMS
  RFSHHMIPGPPGPHTTGIPHPAIVTPQVKQEHPHTDSDLMHVKPQHEQRKEQEPKRPHIK
  KPLNAFMLYMKEMRANVVAECTLKESAAINQILGRRWHALSREEQAKYYELARKERQLHM
  QLYPGWSARDNYGKKKKRKREKLQESASGTGPRMTAAYI

• Sequence length: 399

Pathways

KEGG:

Wnt signaling pathway
Hippo signaling pathway
Adherens junction
Melanogenesis
Cushing syndrome
Alcoholic liver disease
Salmonella infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Colorectal cancer
Endometrial cancer
Prostate cancer
Thyroid cancer
Basal cell carcinoma
Acute myeloid leukemia
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Arrhythmogenic right ventricular cardiomyopathy

Reactome:

Formation of the beta-catenin:TCF transactivating complex
Deactivation of the beta-catenin transactivating complex
Ca2+ pathway
Binding of TCF/LEF:CTNNB1 to target gene promoters
Repression of WNT target genes
Transcriptional Regulation by VENTX
RUNX3 regulates WNT signaling
Transcriptional regulation of granulopoiesis

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	27811057
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	27811057
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	21188121
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
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	27811057

Unknown
Disease term	Disease name	Evidence	References	Source
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Lymphocytic Leukemia	Lymphocytic Leukemia			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Rheumatoid arthritis	Rheumatoid arthritis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Stimulate	32977233
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	37207705
Adenocarcinoma of Lung	Associate	23224985
Adenocarcinoma of Lung	Stimulate	29866045
Adenoma	Associate	39881334
Adenomatous Polyposis Coli	Stimulate	10318916
Adenomatous Polyposis Coli	Inhibit	18076571
Adenomatous Polyposis Coli	Associate	31623618
Alopecia	Associate	27472703
Arthritis Rheumatoid	Associate	12428226, 33004899
Astrocytoma	Stimulate	30468298
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	35972041
Bipolar Disorder	Inhibit	17553960
Bipolar Disorder	Associate	33398088
Brain Diseases	Associate	20515496
Breast Neoplasms	Associate	22686279, 28288164, 28791367, 32492961, 32521845, 34894405, 35864548, 37144994
Bronchopulmonary Dysplasia	Associate	28103583, 35950640
Bronchopulmonary Dysplasia	Inhibit	35950640
Burkitt Lymphoma	Associate	23375451, 38113273
Carcinogenesis	Associate	15747065, 23913826
Carcinoma	Associate	36603684
Carcinoma Hepatocellular	Associate	19402906, 30968150, 32521895, 34767927
Carcinoma Merkel Cell	Associate	34896889, 37207705
Carcinoma Renal Cell	Associate	23572277, 27766950
Cell Transformation Viral	Associate	22010100
Cerebral Infarction	Associate	36802116
Cleft Lip	Associate	21781440
Cleft Palate	Associate	21781440
Colonic Neoplasms	Stimulate	34639214
Colorectal Neoplasms	Associate	10318916, 14675489, 15141037, 15557752, 20525792, 21092222, 21383983, 24223455, 28857495, 29297384, 31536481, 31623618, 33608451, 34474344, 35399646, 36603684, 38224823
Constriction Pathologic	Associate	22173169
COVID 19	Associate	37884975
Cytomegalovirus Infections	Associate	29243023
Death	Associate	24378360
Ectodermal Dysplasia	Associate	35583550
Endometrial Neoplasms	Associate	30452118, 36466815
Epstein Barr Virus Infections	Associate	38113273
Esophageal Neoplasms	Associate	20868558
Esophageal Squamous Cell Carcinoma	Associate	29974668, 31599448
Familial cylindromatosis	Associate	26950276
Gastrointestinal Stromal Tumors	Associate	21192842
Glioblastoma	Associate	25128061, 29903919, 32633375
Glioma	Associate	32826866, 36153326, 36389690
Glucose Intolerance	Associate	35914803
Hay Wells syndrome	Associate	35950640
Hecht Scott syndrome	Associate	35583550
Hodgkin Disease	Associate	32977233
Hypermethioninemia	Associate	38003292
Hyperoxia	Associate	35950640
Hyperoxia	Inhibit	35950640
Hypoxia	Inhibit	37884975
Idiopathic Pulmonary Fibrosis	Stimulate	18478089
Inflammation	Associate	20515496, 35594394
Kotzot Richter syndrome	Associate	32977233
Leiomyosarcoma	Associate	21192842
Leukemia	Associate	21685909, 21998751, 25942645
Leukemia B Cell	Associate	20595513
Leukemia B Cell	Stimulate	26950276
Leukemia Biphenotypic Acute	Associate	17156404, 28557976
Leukemia Lymphocytic Chronic B Cell	Associate	20011538, 20595513, 21685909, 21998751, 26339357, 26950276, 28109040, 34619856, 34896889
Leukemia Lymphocytic Chronic B Cell	Stimulate	32977233
Leukemia Myeloid	Associate	30630973
Leukemia Myeloid Acute	Associate	22581002, 22815426, 25734857, 30630973, 32586085
Leukemia Myeloid Acute	Inhibit	30770626
Leukemia Promyelocytic Acute	Associate	24378360
Leukemia T Cell	Associate	32401815
Lung Neoplasms	Associate	28231299, 28639890, 36101745
Lung Neoplasms	Inhibit	32933177
Lymphatic Metastasis	Stimulate	24223455, 29974668, 31599448
Lymphatic Metastasis	Associate	32521845
Lymphoma B Cell	Associate	21685909, 32977233
Lymphoma Follicular	Stimulate	21685909
Lymphoma Large B Cell Diffuse	Associate	21685909
Lymphoma Large Cell Anaplastic	Associate	20511667, 22899583, 35941721
Lymphoma T Cell	Associate	37106379
Lymphoma T Cell Cutaneous	Associate	25779945
Lymphoma T Cell Peripheral	Associate	12707037
Malaria Cerebral	Associate	36782344
Malignant Teratocarcinosarcoma	Associate	29736797
Medulloblastoma	Associate	36096860, 40528003
Melanoma	Associate	10747853, 25343173, 26489459, 32933177
Multiple Endocrine Neoplasia Type 1	Associate	29149451
Multiple Myeloma	Associate	34269120
Mycosis Fungoides	Associate	25779945
Myelodysplastic Syndromes	Associate	19438482
Myelodysplastic Syndromes	Inhibit	30770626
Nasopharyngeal Carcinoma	Stimulate	38113273
Neoplasm Metastasis	Stimulate	21383983, 24223455, 25715123
Neoplasm Metastasis	Associate	23224985, 27067790, 29866045, 31536481, 32633375, 33289586, 34767927, 38003292
Neoplasms	Associate	15140206, 15747065, 17132729, 22307232, 22905168, 23375451, 23572277, 24021930, 24223455, 24658583, 25715123, 26950276, 29866045, 29872083, 30027386, 30770626, 30912767, 30968150, 31536481, 32521845, 32826866, 32933177, 33289586, 34096776, 34397171, 35359182, 35371339, 35563178, 35588138, 37207705, 37371581, 37377903, 39881334, 40307756
Neoplasms	Inhibit	26359985, 27965462, 32586085
Neoplasms	Stimulate	34639214
Neoplasms Cystic Mucinous and Serous	Associate	28664938
Neoplasms Glandular and Epithelial	Inhibit	35950640
Nerve Degeneration	Associate	33398088
Neuroendocrine Tumors	Associate	29149451
Neutropenia	Associate	19438482
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	19438482, 19620402, 23382209, 24394665
Nevus	Associate	32404956
Non Muscle Invasive Bladder Neoplasms	Associate	36430344
Orofacial Cleft 1	Associate	21781440
Oropharyngeal Neoplasms	Associate	22507326
Osteoarthritis	Associate	22513174, 24905701, 35594394
Osteoarthritis	Inhibit	29806631
Osteosarcoma	Stimulate	23291185
Osteosarcoma	Associate	35340229, 36438897
Pain	Associate	35594394
Pancreatic Neoplasms	Associate	24658583, 35359182
Pancreatoblastoma	Associate	24658583
Pediatric Obesity	Associate	28103583
Personality Disorders	Associate	36997001
Pigmentation Disorders	Associate	36877308
Pilomatrixoma	Associate	22307232
Polydactyly	Associate	35583550
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	22010100
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	22010100, 25942645
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12707037, 20124220, 21878675, 22948044, 32586085
Primary Myelofibrosis	Associate	23066032, 28098757
Progeria	Associate	35628310
Prostatic Intraepithelial Neoplasia	Associate	27067790
Prostatic Neoplasms	Associate	16474850, 19351848, 23913826, 25587085, 27067790
Radial Ray Deficiency X Linked	Associate	35583550
Retinoblastoma	Associate	39738380
Rhabdomyosarcoma	Associate	27965462
Rhabdomyosarcoma Embryonal	Associate	27965462
Sarcopenia	Associate	34371826
Scleroderma Diffuse	Stimulate	22328118
Sezary Syndrome	Associate	25779945
Silicosiderosis	Associate	35594394
Sinonasal undifferentiated carcinoma	Associate	30027386
Split hand foot deformity	Associate	35583550
Squamous Cell Carcinoma of Head and Neck	Associate	22507326, 24021930, 34590150
Squamous Cell Carcinoma of Head and Neck	Stimulate	35371339
Squamous Intraepithelial Lesions	Associate	28664938
Stevens Johnson Syndrome	Associate	31929762
Stomach Neoplasms	Associate	35563178, 35929139
Thyroid Cancer Papillary	Associate	29243023, 34767591
Urethral Neoplasms	Associate	33289586
Urinary Bladder Neoplasms	Associate	36430344
Van der Woude syndrome	Associate	24442519
Venous Malformations Multiple Cutaneous and Mucosal	Associate	37927791
Vitiligo	Associate	36877308
von Hippel Lindau Disease	Stimulate	29149451