IFIH1 (interferon induced with helicase C domain 1)

Gene

• Entrez ID: 64135
• Gene name: Interferon induced with helicase C domain 1
• Gene symbol: IFIH1
• Synonyms (NCBI Gene): AGS7, Hlcd, IDDM19, IMD95, MDA-5, MDA5, RLR-2, SGMRT1
• Disease Acronyms (UniProt): AGS7, IMD95, SGMRT1
• Chromosome: 2
• Chromosome location: 2q24.2
• Summary: IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35337543	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Splice donor variant
rs138373022	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs139714761	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145520044	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201472224	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs201495678	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs376048533	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777445	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777446	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777447	T>C	Pathogenic	Missense variant, coding sequence variant
rs587777448	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777449	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777575	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777576	G>A	Pathogenic	Missense variant, coding sequence variant
rs672601336	C>T	Pathogenic	Missense variant, coding sequence variant
rs753383954	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs753599401	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs765887304	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs774888783	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs774958328	T>A,C,G	Pathogenic	Missense variant, coding sequence variant
rs775441863	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs878853066	T>C	Pathogenic	Coding sequence variant, missense variant
rs923064561	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1238832404	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1320095792	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553696482	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558875029	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559810905	T>A	Pathogenic	Coding sequence variant, missense variant
rs1576219706	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576222015	A>C	Pathogenic	Coding sequence variant, missense variant
rs1576222803	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576222807	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1576222845	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576224269	G>A	Pathogenic	Coding sequence variant, missense variant
rs1576226604	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576226728	T>C	Pathogenic	Coding sequence variant, missense variant
rs1576227162	C>T	Pathogenic	Coding sequence variant, missense variant
rs1576229572	G>A,C	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029703	hsa-miR-26b-5p	Microarray	19088304
MIRT048368	hsa-miR-29b-3p	CLASH	23622248
MIRT046462	hsa-miR-15b-5p	CLASH	23622248
MIRT042455	hsa-miR-424-5p	CLASH	23622248
MIRT1060308	hsa-miR-1279	CLIP-seq
MIRT1060309	hsa-miR-3137	CLIP-seq
MIRT1060310	hsa-miR-323-3p	CLIP-seq
MIRT1060311	hsa-miR-3686	CLIP-seq
MIRT1060312	hsa-miR-4277	CLIP-seq
MIRT1060309	hsa-miR-3137	CLIP-seq
MIRT1060310	hsa-miR-323-3p	CLIP-seq
MIRT1060311	hsa-miR-3686	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA	21873635
GO:0003725	Function	Double-stranded RNA binding	IDA	19656871
GO:0003725	Function	Double-stranded RNA binding	TAS	17079289
GO:0003727	Function	Single-stranded RNA binding	IBA	21873635
GO:0003727	Function	Single-stranded RNA binding	IDA	19656871
GO:0005515	Function	Protein binding	IPI	16127453, 17460044, 17600090, 19403670, 19416887, 20434986, 21156324, 21791617, 21903422, 22301138, 22328336, 22623778, 22908223, 23328395, 25865883, 28591694, 30193849, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0008270	Function	Zinc ion binding	IBA	21873635
GO:0008270	Function	Zinc ion binding	IDA	19380577, 19531363
GO:0009597	Process	Detection of virus	TAS	17079289
GO:0009615	Process	Response to virus	IBA	21873635
GO:0009615	Process	Response to virus	TAS	21616437
GO:0016032	Process	Viral process	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016925	Process	Protein sumoylation	IDA	21156324
GO:0032480	Process	Negative regulation of type I interferon production	TAS
GO:0032727	Process	Positive regulation of interferon-alpha production	IMP	19656871, 21957149
GO:0032727	Process	Positive regulation of interferon-alpha production	TAS	17079289
GO:0032728	Process	Positive regulation of interferon-beta production	IBA	21873635
GO:0032728	Process	Positive regulation of interferon-beta production	IDA	17600090
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19211564, 19656871, 21957149
GO:0032728	Process	Positive regulation of interferon-beta production	TAS	17079289
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	21957149
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IMP	21957149
GO:0034344	Process	Regulation of type III interferon production	TAS	21616437
GO:0039528	Process	Cytoplasmic pattern recognition receptor signaling pathway in response to virus	TAS	21616437
GO:0039530	Process	MDA-5 signaling pathway	IDA	17600090
GO:0042802	Function	Identical protein binding	IPI	22160685, 25865883
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	19881509
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0045087	Process	Innate immune response	TAS	21616437
GO:0051607	Process	Defense response to virus	IDA	21478870
GO:0060760	Process	Positive regulation of response to cytokine stimulus	IMP	21957149
GO:0071360	Process	Cellular response to exogenous dsRNA	IMP	21957149

Other IDs

• MIM: 606951
• HGNC: 18873
• e!Ensembl: ENSG00000115267

Protein

• UniProt ID: Q9BYX4
• Protein name: Interferon-induced helicase C domain-containing protein 1 (EC 3.6.4.13) (Clinically amyopathic dermatomyositis autoantigen 140 kDa) (CADM-140 autoantigen) (Helicase with 2 CARD domains) (Helicard) (Interferon-induced with helicase C domain protein 1) (Mel
• Protein function: Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and pro-in
• PDB: 2RQB, 3B6E, 3GA3, 4GL2, 7DNI, 7DNJ, 7JL0, 7JL2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16739	CARD_2	7 → 99	Caspase recruitment domain	Domain
  PF00619	CARD	115 → 200	Caspase recruitment domain	Domain
  PF04851	ResIII	305 → 493	Type III restriction enzyme, res subunit	Family
  PF18119	RIG-I_C	522 → 692	RIG-I receptor C-terminal domain	Domain
  PF00271	Helicase_C	699 → 826	Helicase conserved C-terminal domain	Family
  PF11648	RIG-I_C-RD	903 → 1018	C-terminal domain of RIG-I	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, at a low level. Expression is detected at slightly highest levels in placenta, pancreas and spleen and at barely levels in detectable brain, testis and lung. {ECO:0000269|PubMed:11805321, ECO:0000269|PubMed:12015121,
• Sequence:

  MSNGYSTDENFRYLISCFRARVKMYIQVEPVLDYLTFLPAEVKEQIQRTVATSGNMQAVE
  LLLSTLEKGVWHLGWTREFVEALRRTGSPLAARYMNPELTDLPSPSFENAHDEYLQLLNL
  LQPTLVDKLLVRDVLDKCMEEELLTIEDRNRIAAAENNGNESGVRELLKRIVQKENWFSA
  FLNVLRQTGNNELVQELTGSDCSESNAEIENLSQVDGPQVEEQLLSTTVQPNLEKEVWGM
  ENNSSESSFADSSVVSESDTSLAEGSVSCLDESLGHNSNMGSDSGTMGSDSDEENVAARA
  SPEPELQLRPYQMEVAQPALEGKNIIICLPTGSGKTRVAVYIAKDHLDKKKKASEPGKVI
  VLVNKVLLVEQLFRKEFQPFLKKWYRVIGLSGDTQLKISFPEVVKSCDIIISTAQILENS
  LLNLENGEDAGVQLSDFSLIIIDECHHTNKEAVYNNIMRHYLMQKLKNNRLKKENKPVIP
  LPQILGLTASPGVGGATKQAKAEEHILKLCANLDAFTIKTVKENLDQLKNQIQEPCKKFA
  IADATREDPFKEKLLEIMTRIQTYCQMSPMSDFGTQPYEQWAIQMEKKAAKEGNRKERVC
  AEHLRKYNEALQINDTIRMIDAYTHLETFYNEEKDKKFAVIEDDSDEGGDDEYCDGDEDE
  DDLKKPLKLDETDRFLMTLFFENNKMLKRLAENPEYENEKLTKLRNTIMEQYTRTEESAR
  GIIFTKTRQSAYALSQWITENEKFAEVGVKAHHLIGAGHSSEFKPMTQNEQKEVISKFRT
  GKINLLIATTVAEEGLDIKECNIVIRYGLVTNEIAMVQARGRARADESTYVLVAHSGSGV
  IEHETVNDFREKMMYKAIHCVQNMKPEEYAHKILELQMQSIMEKKMKTKRNIAKHYKNNP
  SLITFLCKNCSVLACSGEDIHVIEKMHHVNMTPEFKELYIVRENKALQKKCADYQINGEI
  ICKCGQAWGTMMVHKGLDLPCLKIRNFVVVFKNNSTKKQYKKWVELPITFPNLDYSECCL
  FSDED

• Sequence length: 1025

Pathways

KEGG:

RIG-I-like receptor signaling pathway
Hepatitis B
Measles
Influenza A
Herpes simplex virus 1 infection
Coronavirus disease - COVID-19

Reactome:

DDX58/IFIH1-mediated induction of interferon-alpha/beta
Ub-specific processing proteases
Ovarian tumor domain proteases
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Negative regulators of DDX58/IFIH1 signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aicardi goutieres syndrome	AICARDI-GOUTIERES SYNDROME, AICARDI-GOUTIERES SYNDROME 7, Aicardi-Goutières syndrome, AICARDI-GOUTIERES SYNDROME 1, Aicardi-Goutieres Syndrome 2	rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117, rs76857106, rs387906948, rs138603088, rs398122893, rs398122894, rs398122822, rs398122895, rs398122896, rs398122897, rs398122898, rs397515479, rs75718910, rs397515480, rs77103971, rs149846637, rs74689946, rs77371662, rs74876396, rs78762691, rs76642637, rs78300695, rs79318303, rs369587937, rs515726141, rs369035155, rs515726146, rs768943773, rs587777445, rs587777446, rs587777447, rs587777448, rs672601336, rs587777449, rs587777575, rs587777576, rs376048533, rs786205483, rs200773268, rs760594164, rs748914604, rs184953805, rs777313709, rs753679297, rs367915667, rs1553207540, rs779357448, rs1555257383, rs774964432, rs372632599, rs75186889, rs1452451283, rs1568762986, rs1303667371, rs1575293518, rs768724007, rs1559810905, rs549586181, rs781284373, rs1571046959, rs75325951, rs79310911, rs768409471, rs1219206348, rs1335417539, rs1601144527, rs752442185, rs1593470515, rs77301371, rs1571110158, rs1575295176, rs768019897, rs1601141002, rs1576219706, rs138373022, rs1576222015, rs765887304, rs1238832404, rs774958328, rs1576222803, rs1576222845, rs201472224, rs1576224269, rs753599401, rs1576226604, rs753383954, rs1576226728, rs1576227162, rs1576229572, rs1180888940, rs1331920811, rs769561543, rs2063480012, rs1300333132, rs1442728513, rs1951857498	25604658, 24686847, 24995871, 25620204, 28319323, 25542954, 29270977, 30965144
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	30965144
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Aortic valve calcification	Aortic valve calcification	rs41309764, rs41309766, rs863224901, rs1057515423, rs1057515422, rs1057518661, rs1554826746, rs766692577, rs1567092020, rs900988907
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease	Autoinflammatory disorder	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	28606988
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent	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	25751624, 17554260, 21980299, 19430480, 21829393
Glaucoma	Glaucoma, Glaucoma of childhood	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypertension	Hypertensive disease	rs13306026
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
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
Immunoglobulin a deficiency	Immunoglobulin A deficiency (disorder)	rs72553883, rs72553882, rs144718007	27723758, 20694011
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
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
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pseudo-torch syndrome	Pseudo-TORCH syndrome	rs1561334604, rs749237456, rs267606926, rs797045840, rs863225128, rs1085307118, rs748442113, rs1580554633, rs1602534094	24686847
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	20953190, 25903422, 26974007
Pulmonary arterial hypertension	Pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954	30965144
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Singleton merten syndrome	Singleton Merten syndrome, SINGLETON-MERTEN SYNDROME 1, Singleton-Merten dysplasia	rs587777445, rs587777446, rs376048533, rs786204847, rs786204848, rs1587586052, rs1576226604, rs1576229572	25542954, 25620204, 28319323
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Crohn disease	Crohn Disease		26974007	ClinVar
Alloimmune thrombocytopenia	Neonatal Alloimmune Thrombocytopenia			ClinVar
Porencephalic cyst	Porencephalic cyst			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Spastic tetraparesis	Spastic tetraparesis			ClinVar
Immunodeficiency	immunodeficiency 95			GenCC
Aicardi Goutieres Syndrome	Aicardi-Goutieres syndrome			GenCC
Singleton Merten Syndrome	Singleton-Merten dysplasia			GenCC
Diabetes	Diabetes			GWAS
Vitiligo	Vitiligo			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Crohn Disease	Crohn Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acro Osteolysis	Associate	34453469
Aicardi Goutieres syndrome	Associate	25604658, 25620204, 25769924, 26284909, 29395326, 29703882, 30219631, 30952201, 31559893, 31698194, 31898846, 32508843, 33307271, 33482855, 34439917, 34453469, 37828538, 38041217, 38368708, 40043752
Allergic Fungal Sinusitis	Associate	26047816
Alopecia	Associate	21531040
Alzheimer Disease	Associate	40194700
Amyopathic dermatomyositis	Associate	22192091, 22623119, 26651481, 27115353, 29338781, 29952940, 29957268, 30158335, 30333415, 32033996, 32925726, 33257351, 33717138, 33999578, 36316755, 36837566, 37640514, 38098481, 38283343, 39907594
Amyopathic dermatomyositis	Stimulate	32799827
Anodontia of Permanent Dentition	Associate	34453469
Aortic Aneurysm Abdominal	Associate	29567028
Aortic Valve Calcification of	Associate	34453469
Arthralgia	Associate	21531040, 33140079
Arthritis	Associate	21531040, 24989778, 27115353, 32487712, 33124555, 33140079, 37834254, 39213243
Arthritis Psoriatic	Associate	28040421, 28501801, 35918839, 36651965, 37834254
Arthritis Rheumatoid	Associate	17442111, 21333602, 34079550, 36029141, 36837566
Atherosclerosis	Associate	36437453
Atrophy	Associate	33576578
Autoimmune Diseases	Associate	17535987, 20844740, 21270278, 21705624, 25620204, 28000722, 29930297, 30761886, 31733941, 33257351, 35918839, 36651965, 37834254, 40043752
Baraitser Brett Piesowicz syndrome	Associate	29782060
Brain Diseases	Associate	34453469
Brain Injuries Diffuse	Associate	37258042
Calcinosis	Associate	24869801, 30952201, 32487712
Caliciviridae Infections	Associate	29753657
Carcinoma Basal Cell	Associate	36496446
Carcinoma Squamous Cell	Associate	36496446
Cardiomyopathies	Associate	33579193
Cardiomyopathy Dilated	Associate	33579193
CD59 Deficiency	Associate	36434151, 37834254
Chemical and Drug Induced Liver Injury	Associate	38079352
Chilblain lupus 1	Associate	26284909
Chronic Disease	Associate	22892369
Cognition Disorders	Associate	30952201
Cold Injury	Stimulate	30385348
Colitis Ulcerative	Associate	35918839, 36651965
Common Cold	Associate	21224721
Communicable Diseases	Associate	28427244
Coronary Artery Disease	Associate	40306092
Coronavirus Infections	Associate	36232993
COVID 19	Associate	32737579, 33019894, 33440148, 34276672, 34528526, 34987516, 35060899, 35234938, 35793508, 36333264, 36434151, 36672770, 36992353, 38522030, 40120867
Coxsackievirus Infections	Associate	28000722
Crohn Disease	Associate	35918839, 36651965
Cytomegalovirus Infections	Associate	39331212
Death	Associate	29093381, 35793508, 36672770, 36759007, 37382274, 37480130, 37752437, 39908093
Deglutition Disorders	Associate	35983058
Dermatitis Atopic	Associate	37540585
Dermatomyositis	Associate	21531040, 22192091, 22623119, 24741583, 24989778, 25331610, 25337792, 26806087, 27115353, 28040421, 28566605, 28824190, 29642214, 29952940, 29984753, 30066757, 30158335, 30915368, 31301087, 31874111, 32033996, 32310254, 32487712, 33019894, 33032789, 33140079, 33717138, 34368354, 34426622, 34721411, 34738372, 34776485, 34873015, 34987516, 35084311, 35236677, 35370250, 35436746, 35661835, 35793508, 36029141, 36050930, 36070956, 36211445, 36309526, 36622131, 36682032, 36703989, 37103652, 37197957, 37258042, 37279157, 37382274, 37480130, 37551942, 37640514, 37701443, 37985458, 38098481, 38147317, 38153137, 38153165, 38167532, 38522973, 38579289, 39213243, 39360352, 39625817, 39907594, 39914261
Dermatomyositis	Inhibit	33576578
Diabetes Mellitus	Associate	21270278, 22110759, 25075402, 28427244, 35957810
Diabetes Mellitus Type 1	Associate	17442111, 17535987, 18647951, 18927125, 19264985, 19797678, 19956106, 19961590, 20116863, 20644636, 20844740, 21055717, 21270278, 21270831, 21289206, 21304886, 21333602, 21594893, 21829393, 22053898, 22110093, 22110759, 23144876, 24117221, 24561305, 24965593, 26405073, 28000722, 28501801, 29782060, 34439917, 34858326, 35359976, 35867130, 35918839, 35957810, 36434151, 36651965
Diabetes Mellitus Type 2	Associate	28427244
Diarrhea	Associate	38579289
Disease	Associate	34795277
Dupuytren Contracture	Associate	21531040, 22378718
Edema	Associate	21531040
Encephalitis Japanese	Associate	30481615
Enteritis	Inhibit	32057771
Enterovirus Infections	Associate	22110759, 24621100, 34726731, 35867130, 37117225
Epilepsy Generalized	Associate	30761886
Erythema	Stimulate	29952940
Exanthema	Associate	37197957, 39914261
Exanthema	Stimulate	39213243
Eyelid Diseases	Associate	38088023
Fahr's disease	Associate	29782060
Fever	Associate	27115353
Genetic Diseases Inborn	Associate	34439917
Glomerulonephritis IGA	Associate	22892369
Graves Disease	Associate	17535987, 29973096, 31733941
Hashimoto Disease	Associate	29973096
Hepatitis C	Associate	25130193
Hereditary Autoinflammatory Diseases	Associate	31898846, 33042144, 34297039, 34795277, 34987516, 35410415
Hereditary Myopathy with Early Respiratory Failure	Associate	39907594
Heredodegenerative Disorders Nervous System	Associate	23684765
HIV Infections	Associate	19596987
Hypersensitivity Immediate	Associate	28605144, 31898846
Hypertension Pulmonary	Associate	30219631
Hypothyroidism	Associate	29691411
Hypoxia Brain	Associate	37905653
Idiopathic Interstitial Pneumonias	Associate	29269659
Immunologic Deficiency Syndromes	Associate	34185153
Infections	Associate	20395558, 24800889, 25130193, 30158335, 31235738, 32038656, 34369354, 34488908, 40120867
Infections	Inhibit	24833036
Inflammation	Stimulate	18971270, 21224721
Inflammation	Associate	21531040, 22545145, 22892369, 23441136, 23684765, 24686847, 24992168, 25337792, 25620204, 29395326, 30808838, 32849261, 33387195, 35060899, 35359976, 36279285, 40306092
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	34185153
Inflammatory Bowel Diseases	Associate	34185153, 34758847
Influenza Human	Stimulate	37515209
Interferon gamma receptor 1 deficiency	Associate	38079352
Joint Diseases	Associate	28605144
Kidney Diseases	Associate	22892369
Latent Autoimmune Diabetes in Adults	Associate	31733941
Livedoid Vasculopathy	Associate	21531040, 33576578
Lung Diseases	Associate	24989778, 35661835, 39625817
Lung Diseases Interstitial	Stimulate	21531040, 25331610, 30282869, 32799827, 35436746, 35661835, 35793508, 36070956, 36211445, 37985458, 38283343, 39908093
Lung Diseases Interstitial	Associate	22192091, 22378718, 22623119, 22886382, 24741583, 24989778, 25337792, 26414240, 26651481, 27115353, 27301523, 27888997, 28566605, 29093381, 29338781, 29642214, 29952940, 29957268, 30158335, 30333415, 30449789, 30915368, 31096460, 31301087, 32033996, 32487712, 32506053, 32691471, 32905890, 32925726, 33019894, 33032789, 33140079, 33257351, 33999578, 34368354, 34426622, 34776485, 35084311, 35236677, 35705246, 36029141, 36682032, 36837566, 37197957, 37258042, 37382274, 37551942, 37640514, 37691917, 37898737, 38098481, 38147317, 38153137, 38153165, 38167532, 39213243, 39907594
Lupus Erythematosus Discoid	Associate	33879674
Lupus Erythematosus Systemic	Associate	19838195, 21705624, 22046141, 23441136, 29257335, 29321042, 29930297, 30707351, 34079550, 35757684
Lupus Nephritis	Associate	22892369
Lymphadenopathy	Stimulate	33140079
Lymphohistiocytosis Hemophagocytic	Associate	29984753
Lymphopenia	Associate	36682032, 37382274
Mastocytosis Systemic	Associate	36333264
Mediastinal Emphysema	Associate	22378718, 30158335, 36759007, 38147317
Melanoma	Associate	19620789, 24573197
Melanoma Cutaneous Malignant	Associate	32902917
Metabolism Inborn Errors	Associate	34726731
Mitochondrial Diseases	Stimulate	19620789
Mitochondrial Diseases	Associate	33576578
Mouth Diseases	Associate	37117225
Mucocutaneous Lymph Node Syndrome	Associate	37588055
Multiple Sclerosis	Associate	19156166, 31733941
Muscle Neoplasms	Associate	33576578
Muscle Weakness	Associate	28824190, 33579193, 37197957
Muscular Diseases	Associate	24989778, 33576578, 33579193
Musculoskeletal Diseases	Associate	28605144
Myalgia	Associate	28824190
Myopia	Associate	29346494
Myositis	Associate	29957268, 31096460, 32487712, 37094222, 37752437, 37898737, 38153165, 39213243, 40114239
Myotonic Dystrophy	Associate	22378718, 22886382, 31096460, 31301087, 33032789, 34426622, 35436746, 35983058, 37258042, 37701443, 38147317, 38153137, 39625817, 39908093
Nasopharyngeal Carcinoma	Associate	32271791
Neoplasm Metastasis	Inhibit	19620789
Neoplasms	Associate	24573197, 36496446
Nephrotic Syndrome	Associate	34776485
Neuroblastoma	Associate	26208481
Neuroinflammatory Diseases	Associate	26284909, 28605144
Neurologic Manifestations	Associate	26284909
Nonsyndromic Deafness	Associate	29346494
Obesity	Inhibit	36851534
Oral Ulcer	Associate	21531040, 24989778
Osteoarthritis	Associate	21337319, 33782454
Osteogenesis imperfecta type 1A	Associate	25075402
Pancreatic Neoplasms	Associate	37117225
Panniculitis	Associate	24741583
Papillomavirus Infections	Inhibit	33013878
Papillomavirus Infections	Associate	33164635
Paraparesis Spastic	Associate	29782060
Paraplegia	Associate	34453469
Pharyngitis	Stimulate	39625817
Pneumonia	Stimulate	38283343
Pneumonia Mycoplasma	Stimulate	36316755
Polymyositis	Associate	25337792, 33032789
Propping Zerres syndrome	Associate	32487712
Psoriasis	Stimulate	17928888
Psoriasis	Associate	35918839, 36651965, 37834254
Pulmonary Disease Chronic Obstructive	Associate	23384071
Pulmonary Disease Chronic Obstructive	Stimulate	24992168, 36837566
Pulmonary Disease Chronic Obstructive	Inhibit	31170225
Raynaud Disease	Associate	32487712
Respiratory Insufficiency	Associate	22378718, 22623119
Respiratory Syncytial Virus Infections	Associate	19386802
Respiratory Tract Infections	Associate	38153165
Sarcoma Kaposi	Associate	18155685
Scleroderma Systemic	Associate	33253099
Shock Septic	Associate	33019894
Singleton Merten syndrome	Associate	25620204, 26284909, 28605144, 30574673, 31898846, 34439917, 34453469, 35410415
Sjogren's Syndrome	Associate	29957268
Skin Diseases	Associate	37834254, 39213243
Skin Ulcer	Associate	21531040, 22378718, 24989778, 32487712, 39914261
Skin Ulcer	Stimulate	22623119
Spastic paraplegia 10 autosomal dominant	Associate	29782060
Spondylitis Ankylosing	Associate	35918839, 36651965
Status Asthmaticus	Inhibit	23212197
Status Asthmaticus	Associate	29843677
Subcutaneous Emphysema	Associate	38147317
Thyroid Dyshormonogenesis 2A	Associate	25829454
Thyroiditis Autoimmune	Associate	29973096
Tooth Loss	Associate	26284909
Ulcer	Associate	25331610, 35757684, 39914261
Vaccinia	Stimulate	21354589
Vascular Calcification	Associate	25620204
Ventricular Dysfunction Left	Associate	35983058
Virus Diseases	Associate	17651439, 21156324, 24886842, 28716935, 29899107, 29939295, 30808838, 32737579, 34194436, 35060899, 35359976, 36434151, 37551942, 37834254
Vitiligo	Associate	30761886
Vitiligo	Stimulate	32532953
Weight Loss	Stimulate	33140079
Zika Virus Infection	Associate	36851534