SP110 (SP110 nuclear body protein)

Gene

• Entrez ID: 3431
• Gene name: SP110 nuclear body protein
• Gene symbol: SP110
• Synonyms (NCBI Gene): IFI41, IFI75, IPR1, VODI
• Disease Acronyms (UniProt): VODI
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can func

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs927135298	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1560530550	->G	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019722	hsa-miR-375	Microarray	20215506
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT635902	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635901	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635900	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635899	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635898	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635897	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635896	hsa-miR-4284	HITS-CLIP	23824327
MIRT635895	hsa-miR-4713-3p	HITS-CLIP	23824327
MIRT635894	hsa-miR-638	HITS-CLIP	23824327
MIRT635893	hsa-miR-541-3p	HITS-CLIP	23824327
MIRT635892	hsa-miR-654-5p	HITS-CLIP	23824327
MIRT635891	hsa-miR-92a-2-5p	HITS-CLIP	23824327
MIRT635889	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT635890	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT635888	hsa-miR-4654	HITS-CLIP	23824327
MIRT635887	hsa-miR-4769-5p	HITS-CLIP	23824327
MIRT635886	hsa-miR-450b-3p	HITS-CLIP	23824327
MIRT635885	hsa-miR-769-3p	HITS-CLIP	23824327
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT513437	hsa-miR-2392	PAR-CLIP	23446348
MIRT513436	hsa-miR-1265	PAR-CLIP	23446348
MIRT513435	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT513434	hsa-miR-5187-5p	PAR-CLIP	23446348
MIRT513433	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT733904	hsa-miR-548ba	Luciferase reporter assay, Microarray, qRT-PCR	32042028
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT635902	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT635901	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT635900	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT635899	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT635898	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT635897	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT635896	hsa-miR-4284	HITS-CLIP	23824327
MIRT635895	hsa-miR-4713-3p	HITS-CLIP	23824327
MIRT635894	hsa-miR-638	HITS-CLIP	23824327
MIRT635893	hsa-miR-541-3p	HITS-CLIP	23824327
MIRT635892	hsa-miR-654-5p	HITS-CLIP	23824327
MIRT635891	hsa-miR-92a-2-5p	HITS-CLIP	23824327
MIRT635889	hsa-miR-6769a-5p	HITS-CLIP	23824327
MIRT635890	hsa-miR-6769b-5p	HITS-CLIP	23824327
MIRT635888	hsa-miR-4654	HITS-CLIP	23824327
MIRT635887	hsa-miR-4769-5p	HITS-CLIP	23824327
MIRT635886	hsa-miR-450b-3p	HITS-CLIP	23824327
MIRT635885	hsa-miR-769-3p	HITS-CLIP	23824327
MIRT621119	hsa-miR-6819-3p	HITS-CLIP	23824327
MIRT621118	hsa-miR-6877-3p	HITS-CLIP	23824327
MIRT621117	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT621116	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT621115	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT621114	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT621113	hsa-miR-1976	HITS-CLIP	23824327
MIRT621112	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT621111	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT621110	hsa-miR-4279	HITS-CLIP	23824327
MIRT621109	hsa-miR-526b-5p	HITS-CLIP	23824327
MIRT621108	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT621107	hsa-miR-498	HITS-CLIP	23824327
MIRT513437	hsa-miR-2392	PAR-CLIP	23446348
MIRT513436	hsa-miR-1265	PAR-CLIP	23446348
MIRT513435	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT513434	hsa-miR-5187-5p	PAR-CLIP	23446348
MIRT513433	hsa-miR-6728-5p	PAR-CLIP	23446348
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq
MIRT1380911	hsa-miR-1200	CLIP-seq
MIRT1380912	hsa-miR-4324	CLIP-seq
MIRT1380913	hsa-miR-4450	CLIP-seq
MIRT1380914	hsa-miR-491-5p	CLIP-seq
MIRT1380915	hsa-miR-544b	CLIP-seq
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT2630505	hsa-miR-3978	CLIP-seq
MIRT2630506	hsa-miR-411	CLIP-seq
MIRT2630507	hsa-miR-4261	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT2630508	hsa-miR-4453	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT2630509	hsa-miR-4538	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq
MIRT1380898	hsa-miR-1324	CLIP-seq
MIRT1380899	hsa-miR-134	CLIP-seq
MIRT1380900	hsa-miR-18a	CLIP-seq
MIRT1380901	hsa-miR-18b	CLIP-seq
MIRT1380902	hsa-miR-2276	CLIP-seq
MIRT1380903	hsa-miR-3118	CLIP-seq
MIRT1380904	hsa-miR-3136-5p	CLIP-seq
MIRT1380905	hsa-miR-3153	CLIP-seq
MIRT2630505	hsa-miR-3978	CLIP-seq
MIRT2630507	hsa-miR-4261	CLIP-seq
MIRT1380906	hsa-miR-4439	CLIP-seq
MIRT2630508	hsa-miR-4453	CLIP-seq
MIRT1380907	hsa-miR-4513	CLIP-seq
MIRT1380908	hsa-miR-4521	CLIP-seq
MIRT2630509	hsa-miR-4538	CLIP-seq
MIRT1380909	hsa-miR-4735-3p	CLIP-seq
MIRT1380910	hsa-miR-4792	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0016032	Process	Viral process	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 604457
• HGNC: 5401
• e!Ensembl: ENSG00000135899

Protein

• UniProt ID: Q9HB58
• Protein name: Sp110 nuclear body protein (Interferon-induced protein 41/75) (Speckled 110 kDa) (Transcriptional coactivator Sp110)
• Protein function: Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03172	HSR	8 → 106	HSR domain	Domain
  PF01342	SAND	458 → 533	SAND domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidne
• Sequence:

  MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIP
  VSRVVHNILTQLERTFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPIL
  LEAPTGLAEGSSLHTPLALPPPQPPQPSCSPCAPRVSEPGTSSQQSDEILSESPSPSDPV
  LPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
  MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGG
  TASSRHGIQKKLKRVDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNE
  GKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCA
  RKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
  KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVC
  CQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQ
  PQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVG
  LDLEAEFEKDLKDVLGFHEANDGGFWTLP

• Sequence length: 689

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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
Hepatic venoocclusive disease with immunodeficiency	Hepatic venoocclusive disease with immunodeficiency, Hepatic veno-occlusive disease-immunodeficiency syndrome	rs397515361, rs397515362, rs397515572, rs199845488, rs1560530550, rs927135298, rs199938221, rs763364899	16648851, 22621957
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Liver failure	Chronic Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Cholangiocarcinoma	Cholangiocarcinoma		28779025	ClinVar
Lymphocytic Leukemia	Lymphocytic Leukemia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Agammaglobulinemia	Associate	16648851
Breast Neoplasms	Associate	27832451
Carcinoma Hepatocellular	Associate	35653238
Diabetes Mellitus	Associate	29920932
Genetic Diseases Inborn	Associate	16648851
Hepatic Veno Occlusive Disease	Associate	16648851
Hepatic venoocclusive disease with immunodeficiency	Associate	28825155
Hepatitis B	Associate	35653238
Immunologic Deficiency Syndromes	Associate	16648851
Infections	Associate	35653238
Influenza Human	Associate	31665046
Interferon gamma receptor 1 deficiency	Associate	23683877
Latent Tuberculosis	Associate	30627224
Leukemia Promyelocytic Acute	Associate	10913195
Neoplasms	Associate	27832451
Obsessive Compulsive Disorder	Associate	32063569
Tuberculosis	Associate	16816019, 30627224, 36249417
Tuberculosis Lymph Node	Associate	36672948
Tuberculosis Meningeal	Associate	29430075
Tuberculosis Pulmonary	Associate	29430075, 36249417