NFATC1 (nuclear factor of activated T cells 1)

Gene

• Entrez ID: 4772
• Gene name: Nuclear factor of activated T cells 1
• Gene symbol: NFATC1
• Synonyms (NCBI Gene): NF-ATC, NF-ATc1.2, NFAT2, NFATc
• Chromosome: 18
• Chromosome location: 18q23
• Summary: The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002918	hsa-miR-124-3p	Microarray	18668037
MIRT052157	hsa-let-7b-5p	CLASH	23622248
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT002918	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT438543	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT438543	hsa-miR-145-5p	Luciferase reporter assay	24043548
MIRT639069	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639068	hsa-miR-4671-5p	HITS-CLIP	23824327
MIRT639067	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT639066	hsa-miR-324-5p	HITS-CLIP	23824327
MIRT639065	hsa-miR-623	HITS-CLIP	23824327
MIRT639064	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639063	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639061	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639062	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT731824	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	27639060
MIRT731824	hsa-miR-143-3p	Luciferase reporter assay, qRT-PCR, Western blot	27639060
MIRT639069	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT639068	hsa-miR-4671-5p	HITS-CLIP	23824327
MIRT639067	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT639066	hsa-miR-324-5p	HITS-CLIP	23824327
MIRT639065	hsa-miR-623	HITS-CLIP	23824327
MIRT639064	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT639063	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT639061	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT639062	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT1182128	hsa-miR-1231	CLIP-seq
MIRT1182129	hsa-miR-1305	CLIP-seq
MIRT1182130	hsa-miR-346	CLIP-seq
MIRT1182131	hsa-miR-34b	CLIP-seq
MIRT1182132	hsa-miR-3913-3p	CLIP-seq
MIRT1182133	hsa-miR-4263	CLIP-seq
MIRT1182134	hsa-miR-4288	CLIP-seq
MIRT1182135	hsa-miR-4310	CLIP-seq
MIRT1182136	hsa-miR-4699-3p	CLIP-seq
MIRT1182137	hsa-miR-4705	CLIP-seq
MIRT1182138	hsa-miR-576-5p	CLIP-seq
MIRT1182139	hsa-miR-632	CLIP-seq
MIRT1182140	hsa-miR-642b	CLIP-seq
MIRT1182141	hsa-miR-1260	CLIP-seq
MIRT1182142	hsa-miR-1260b	CLIP-seq
MIRT1182143	hsa-miR-188-3p	CLIP-seq
MIRT1182144	hsa-miR-3156-3p	CLIP-seq
MIRT1182145	hsa-miR-662	CLIP-seq
MIRT2052812	hsa-miR-1203	CLIP-seq
MIRT2052813	hsa-miR-1256	CLIP-seq
MIRT2052814	hsa-miR-1270	CLIP-seq
MIRT1182129	hsa-miR-1305	CLIP-seq
MIRT2052815	hsa-miR-1343	CLIP-seq
MIRT2052816	hsa-miR-223	CLIP-seq
MIRT2052817	hsa-miR-3660	CLIP-seq
MIRT2052818	hsa-miR-3665	CLIP-seq
MIRT2052819	hsa-miR-3689d	CLIP-seq
MIRT1182132	hsa-miR-3913-3p	CLIP-seq
MIRT2052820	hsa-miR-409-3p	CLIP-seq
MIRT2052821	hsa-miR-4290	CLIP-seq
MIRT2052822	hsa-miR-4443	CLIP-seq
MIRT2052823	hsa-miR-4526	CLIP-seq
MIRT2052824	hsa-miR-4531	CLIP-seq
MIRT2052825	hsa-miR-4645-3p	CLIP-seq
MIRT2052826	hsa-miR-4667-3p	CLIP-seq
MIRT2052827	hsa-miR-4687-5p	CLIP-seq
MIRT2052828	hsa-miR-4704-3p	CLIP-seq
MIRT2052829	hsa-miR-4720-5p	CLIP-seq
MIRT2052830	hsa-miR-4765	CLIP-seq
MIRT2052831	hsa-miR-4781-3p	CLIP-seq
MIRT2052832	hsa-miR-4799-3p	CLIP-seq
MIRT2052833	hsa-miR-620	CLIP-seq
MIRT2052834	hsa-miR-628-5p	CLIP-seq
MIRT1182140	hsa-miR-642b	CLIP-seq
MIRT2052835	hsa-miR-671-5p	CLIP-seq
MIRT1182128	hsa-miR-1231	CLIP-seq
MIRT2282031	hsa-miR-124	CLIP-seq
MIRT2052814	hsa-miR-1270	CLIP-seq
MIRT1182130	hsa-miR-346	CLIP-seq
MIRT2282032	hsa-miR-3545-3p	CLIP-seq
MIRT2282033	hsa-miR-3714	CLIP-seq
MIRT2282034	hsa-miR-3910	CLIP-seq
MIRT2052820	hsa-miR-409-3p	CLIP-seq
MIRT1182134	hsa-miR-4288	CLIP-seq
MIRT1182135	hsa-miR-4310	CLIP-seq
MIRT2052824	hsa-miR-4531	CLIP-seq
MIRT2282035	hsa-miR-4539	CLIP-seq
MIRT2282036	hsa-miR-4652-3p	CLIP-seq
MIRT2282037	hsa-miR-4712-5p	CLIP-seq
MIRT2052831	hsa-miR-4781-3p	CLIP-seq
MIRT2282038	hsa-miR-506	CLIP-seq
MIRT2282039	hsa-miR-617	CLIP-seq
MIRT2052833	hsa-miR-620	CLIP-seq
MIRT1182139	hsa-miR-632	CLIP-seq
MIRT2282040	hsa-miR-770-5p	CLIP-seq
MIRT2455090	hsa-miR-3200-5p	CLIP-seq
MIRT2455091	hsa-miR-4682	CLIP-seq
MIRT2455092	hsa-miR-496	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMO2	Activation	22517897

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	15304486
GO:0000785	Component	Chromatin	ISA
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	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001085	Function	RNA polymerase II transcription factor binding	ISS
GO:0001225	Function	RNA polymerase II transcription coactivator binding	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001816	Process	Cytokine production	IBA	21873635
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9506523, 10821850
GO:0005515	Function	Protein binding	IPI	17882263, 18218901, 21880741, 23468591, 24954618, 25609649
GO:0005528	Function	FK506 binding	TAS	8702849
GO:0005634	Component	Nucleus	IDA	12370307
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007223	Process	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0008134	Function	Transcription factor binding	IBA	21873635
GO:0016604	Component	Nuclear body	IDA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	ISS
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IBA	21873635
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IDA	14979875
GO:0035556	Process	Intracellular signal transduction	IDA	14749367
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	14749367, 14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	14979875
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048273	Function	Mitogen-activated protein kinase p38 binding	ISS
GO:1905064	Process	Negative regulation of vascular associated smooth muscle cell differentiation	IDA	23853098
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600489
• HGNC: 7775
• e!Ensembl: ENSG00000131196

Protein

• UniProt ID: O95644
• Protein name: Nuclear factor of activated T-cells, cytoplasmic 1 (NF-ATc1) (NFATc1) (NFAT transcription complex cytosolic component) (NF-ATc) (NFATc)
• Protein function: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proli
• PDB: 1A66, 1NFA, 5SVE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00554	RHD_DNA_bind	428 → 588	Rel homology DNA-binding domain	Domain
  PF16179	RHD_dimer	597 → 697	Rel homology dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-
• Sequence:

  MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEEEHYGYASSNVSPALPLPT
  AHSTLPAPCHNLQTSTPGIIPPADHPSGYGAALDGGPAGYFLSSGHTRPDGAPALESPRI
  EITSCLGLYHNNNQFFHDVEVEDVLPSSKRSPSTATLSLPSLEAYRDPSCLSPASSLSSR
  SCNSEASSYESNYSYPYASPQTSPWQSPCVSPKTTDPEEGFPRGLGACTLLGSPRHSPST
  SPRASVTEESWLGARSSRPASPCNKRKYSLNGRQPPYSPHHSPTPSPHGSPRVSVTDDSW
  LGNTTQYTSSAIVAAINALTTDSSLDLGDGVPVKSRKTTLEQPPSVALKVEPVGEDLGSP
  PPPADFAPEDYSSFQHIRKGGFCDQYLAVPQHPYQWAKPKPLSPTSYMSPTLPALDWQLP
  SHSGPYELRIEVQPKSHHRAHYETEGSRGAVKASAGGHPIVQLHGYLENEPLMLQLFIGT
  ADDRLLRPHAFYQVHRITGKTVSTTSHEAILSNTKVLEIPLLPENSMRAVIDCAGILKLR
  NSDIELRKGETDIGRKNTRVRLVFRVHVPQPSGRTLSLQVASNPIECSQRSAQELPLVEK
  QSTDSYPVVGGKKMVLSGHNFLQDSKVIFVEKAPDGHHVWEMEAKTDRDLCKPNSLVVEI
  PPFRNQRITSPVHVSFYVCNGKRKRSQYQRFTYLPANVPIIKTEPTDDYEPAPTCGPVSQ
  GLSPLPRPYYSQQLAMPPDPSSCLVAGFPPCPQRSTLMPAAPGVSPKLHDLSPAAYTKGV
  ASPGHCHLGLPQPAGEAPAVQDVPRPVATHPGSPGQPPPALLPQQVSAPPSSSCPPGLEH
  SLCPSSPSPPLPPATQEPTCLQPCSPACPPATGRPQHLPSTVRRDESPTAGPRLLPEVHE
  DGSPNLAPIPVTVKREPEELDQLYLDDVNEIIRNDLSSTSTHS

• Sequence length: 943

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Efferocytosis
Cellular senescence
Wnt signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Oxytocin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Yersinia infection
Hepatitis B
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Inflammatory bowel disease
Lipid and atherosclerosis

Reactome:

Calcineurin activates NFAT
FCERI mediated Ca+2 mobilization
Ca2+ pathway
CLEC7A (Dectin-1) induces NFAT activation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Diabetes	Diabetes	rs80356611	31451708
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	31451708
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	30595370
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26192919, 26974007	ClinVar
Congenital Heart Disease	congenital heart disease			GenCC
Kidney Disease	Kidney Disease			GWAS
Hyperuricemia	Hyperuricemia			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Crohn Disease	Crohn Disease			GWAS
Rheumatoid arthritis	Rheumatoid arthritis			GWAS
Osteoarthritis Of Hip	Osteoarthritis Of Hip			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	34181355
Acute Coronary Syndrome	Associate	34151742
Addison Disease	Associate	26042420
Adenocarcinoma of Lung	Associate	29563587, 33021972, 34257525
Aggressive Periodontitis	Stimulate	21284733
Amyotrophic Lateral Sclerosis	Associate	32732921
Arteritis	Associate	35003111
Arthritis Rheumatoid	Associate	22385242, 27572279, 30802366, 35896699, 36513810
Arthritis Rheumatoid	Stimulate	33952303
Asthma	Associate	33079489
Asthma	Inhibit	40650018
Bisphosphonate Associated Osteonecrosis of the Jaw	Stimulate	30832685
Bone Diseases	Associate	30802366
Bone Neoplasms	Associate	34310785
Bone Resorption	Associate	21360521, 35896699
Bone Resorption	Stimulate	30832685
Breast Neoplasms	Associate	30803933, 36137995
Burkitt Lymphoma	Associate	15667535, 35472072
Carcinogenesis	Inhibit	30085405
Carcinoma Hepatocellular	Inhibit	30085405
Carcinoma Non Small Cell Lung	Associate	31823518, 34257525
Carcinoma Ovarian Epithelial	Associate	28637314
Carcinoma Squamous Cell	Associate	34257525
Cardiomyopathy Hypertrophic	Associate	32531470
Celiac Disease	Associate	37222325
Cherubism	Associate	25491283, 30236129
Colitis Ulcerative	Associate	18350607
Colonic Neoplasms	Associate	15632146
Colorectal Neoplasms	Associate	31183372, 33113363, 33795653, 38092774
Conotruncal cardiac defects	Associate	37406974
Diabetic Nephropathies	Associate	32550905
Diarrhea Chronic with Villous Atrophy	Associate	37222325
Drug Hypersensitivity	Associate	33079489
Fibrous Dysplasia Polyostotic	Associate	34310785
Giant Cell Arteritis	Stimulate	35003111
Glioblastoma	Associate	34309232
Glioma	Associate	29258522
Graft vs Host Disease	Associate	10556195
Heart Defects Congenital	Associate	28829497
Heart Diseases	Associate	32550905
Heart Septal Defects Ventricular	Associate	23226213, 35870951, 36759823
HIV Infections	Associate	22280894, 37404829
Hodgkin Disease	Inhibit	34181355
Hypotension	Associate	30832685
Idiopathic Pulmonary Fibrosis	Associate	27218286
Immune Reconstitution Inflammatory Syndrome	Stimulate	28316373
Infertility Male	Associate	31103287
Inflammation	Associate	18350607, 22307621, 23146195, 28671563, 34181355
Inflammatory Bowel Diseases	Associate	32535589, 36680554
Leukemia Lymphocytic Chronic B Cell	Associate	21398617
Leukemia Lymphocytic Chronic B Cell	Stimulate	22534504, 22613791
Leukemia Lymphoma Adult T Cell	Associate	30231940
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35544467
Leukemia Myeloid Acute	Inhibit	11698483
Liver Cirrhosis	Inhibit	30085405
Liver Cirrhosis	Associate	30871618
Lupus Erythematosus Systemic	Stimulate	20506525
Lupus Erythematosus Systemic	Associate	31412880, 37072752
Lupus Nephritis	Associate	29953444
Lymphatic Metastasis	Inhibit	30085405
Lymphoma	Associate	15667535, 16099873, 20664054
Lymphoma B Cell	Associate	30209121
Lymphoma Large B Cell Diffuse	Associate	15667535, 20664054, 30209121, 37248542
Lymphoma Large Cell Anaplastic	Associate	20511667
Majeed syndrome	Associate	33314777
Malignant mesenchymal tumor	Associate	26674310
Mucocutaneous Lymph Node Syndrome	Stimulate	32170198
Mucocutaneous Lymph Node Syndrome	Associate	32183825
Multiple Myeloma	Associate	36251145
Myopathy Central Core	Associate	21088110
Neoplasms	Associate	16874304, 31730483, 31823518
Neoplasms	Stimulate	21192845
Neoplasms	Inhibit	30085405, 34181355
Osteoarthritis	Inhibit	26713865
Osteonecrosis	Stimulate	25820558
Osteoporosis	Associate	36148414
Pancreatic Neoplasms	Associate	16874304
Periodontitis	Stimulate	21284733
Personality Disorders	Stimulate	34845197
Prostatic Neoplasms	Stimulate	30817743
Prostatic Neoplasms	Associate	31730483
Rectal Neoplasms	Associate	34642262
Renal Insufficiency Chronic	Associate	29779033
Sarcoma	Associate	38189436
Sjogren's Syndrome	Associate	34261974
Spinal Cord Injuries	Associate	33863336
Status Asthmaticus	Stimulate	33079489
T cell immunodeficiency primary	Associate	35544467
Tooth Resorption	Associate	37793008
Tricuspid Atresia	Associate	23226213
Tuberculosis	Associate	37460564
Urinary Bladder Neoplasms	Associate	32420368, 33962392, 35958586
Vascular Diseases	Associate	34310785
Vascular Neoplasms	Associate	38189436