NOX1 (NADPH oxidase 1)

Gene

• Entrez ID: 27035
• Gene name: NADPH oxidase 1
• Gene symbol: NOX1
• Synonyms (NCBI Gene): GP91-2, MOX1, NOH-1, NOH-1L, NOH1
• Chromosome: X
• Chromosome location: Xq22.1
• Summary: This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been obs

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142303829	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2284051	hsa-miR-3126-5p	CLIP-seq
MIRT2284052	hsa-miR-3151	CLIP-seq
MIRT2284053	hsa-miR-3689a-3p	CLIP-seq
MIRT2284054	hsa-miR-3689c	CLIP-seq
MIRT2284055	hsa-miR-4447	CLIP-seq
MIRT2284056	hsa-miR-4472	CLIP-seq
MIRT2284057	hsa-miR-4651	CLIP-seq
MIRT2284058	hsa-miR-4728-5p	CLIP-seq
MIRT2284059	hsa-miR-491-5p	CLIP-seq
MIRT2284060	hsa-miR-608	CLIP-seq
MIRT2391665	hsa-miR-106a	CLIP-seq
MIRT2391666	hsa-miR-106b	CLIP-seq
MIRT2391667	hsa-miR-134	CLIP-seq
MIRT2391668	hsa-miR-17	CLIP-seq
MIRT2391669	hsa-miR-20a	CLIP-seq
MIRT2391670	hsa-miR-20b	CLIP-seq
MIRT2391671	hsa-miR-3118	CLIP-seq
MIRT2391672	hsa-miR-3609	CLIP-seq
MIRT2391673	hsa-miR-371-5p	CLIP-seq
MIRT2391674	hsa-miR-4796-3p	CLIP-seq
MIRT2391675	hsa-miR-519d	CLIP-seq
MIRT2391676	hsa-miR-548ah	CLIP-seq
MIRT2391677	hsa-miR-767-3p	CLIP-seq
MIRT2391678	hsa-miR-93	CLIP-seq
MIRT2686445	hsa-miR-4714-5p	CLIP-seq
MIRT2686446	hsa-miR-568	CLIP-seq
MIRT2686447	hsa-miR-618	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIPK2	Repression	20171273
STAT1	Unknown	19834108
STAT3	Unknown	19834108
STAT4	Unknown	19834108

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	11805326
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IEA
GO:0005244	Function	Voltage-gated ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16636067, 32296183
GO:0005769	Component	Early endosome	IDA	17673675
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006739	Process	NADP metabolic process	IC	10485709
GO:0006952	Process	Defense response	IBA	21873635
GO:0006954	Process	Inflammatory response	TAS	18347018
GO:0007165	Process	Signal transduction	TAS	17673675
GO:0008217	Process	Regulation of blood pressure	TAS	18347018
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	10485709
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEP	11805326
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IBA	21873635
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IC	10485709
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IMP	18023288
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS	10485709, 18347018
GO:0016477	Process	Cell migration	IMP	18023288
GO:0030054	Component	Cell junction	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031267	Function	Small GTPase binding	IPI	16636067
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0042554	Process	Superoxide anion generation	IBA	21873635
GO:0042554	Process	Superoxide anion generation	IDA	10485709
GO:0042554	Process	Superoxide anion generation	IMP	18023288
GO:0042743	Process	Hydrogen peroxide metabolic process	IDA	11331784
GO:0043020	Component	NADPH oxidase complex	IBA	21873635
GO:0043020	Component	NADPH oxidase complex	IDA	16636067
GO:0045726	Process	Positive regulation of integrin biosynthetic process	IMP	18023288
GO:0045730	Process	Respiratory burst	TAS	16636067
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS	10485709
GO:0050661	Function	NADP binding	IC	10485709
GO:0051454	Process	Intracellular pH elevation	IDA	10615049
GO:0071455	Process	Cellular response to hyperoxia	IEA
GO:0072592	Process	Oxygen metabolic process	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1990451	Process	Cellular stress response to acidic pH	IDA	10615049

Other IDs

• MIM: 300225
• HGNC: 7889
• e!Ensembl: ENSG00000007952

Protein

• UniProt ID: Q9Y5S8
• Protein name: NADPH oxidase 1 (NOX-1) (EC 1.6.3.-) (Mitogenic oxidase 1) (MOX-1) (NADH/NADPH mitogenic oxidase subunit P65-MOX) (NOH-1)
• Protein function: NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor. ; FUNCTION
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01794	Ferric_reduct	54 → 219	Ferric reductase like transmembrane component	Family
  PF08022	FAD_binding_8	292 → 389	FAD-binding domain	Domain
  PF08030	NAD_binding_6	395 → 545	Ferric reductase NAD binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform NOH-1L]: Detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. {ECO:0000269|PubMed:10485709, ECO:0000269|PubMed:10615049}.
• Sequence:

  MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGSTLACARASALCL
  NFNSTLILLPVCRNLLSFLRGTCSFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHIIAHL
  FNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQSRNTTVEYVTFTSIAGLTGVI
  MTIALILMVTSATEFIRRSYFEVFWYTHHLFIFYILGLGIHGIGGIVRGQTEESMNESHP
  RKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPVILYICERILRFYRSQQKVVITKV
  VMHPSKVLELQMNKRGFSMEVGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRAAGD
  WTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVLVGAGIGVTPFASILKSIWYK
  FQCADHNLKTKKIYFYWICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSN
  IVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTIATSHPKSVVGVFLCGPRTLAKSL
  RKCCHRYSSLDPRKVQFYFNKENF

• Sequence length: 564

Pathways

KEGG:

Osteoclast differentiation
AGE-RAGE signaling pathway in diabetic complications
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

RHO GTPases Activate NADPH Oxidases
WNT5:FZD7-mediated leishmania damping

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	20715105
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255	20832062

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		20304815	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		20304815	ClinVar
Myocardial infarction	Myocardial Failure		20304815	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Lung Injury	Associate	33757467
Adenoma Islet Cell	Stimulate	31492561
Adenomatous Polyps	Associate	32428030
Adrenocortical Carcinoma	Associate	35500219
Adrenoleukodystrophy	Associate	25252997
Alzheimer Disease	Stimulate	35612774
Asthma	Associate	32512817
Breast Neoplasms	Associate	39219290
Carcinoma Hepatocellular	Associate	27282266, 28894215, 35418176
Carcinoma Large Cell	Associate	32428030
Carcinoma Non Small Cell Lung	Associate	25592377, 30273693
Carcinoma Squamous Cell	Associate	21167810
Cockayne Syndrome	Associate	30009828
Colonic Neoplasms	Associate	30760703, 32428030
Colorectal Neoplasms	Associate	20943948, 22305747, 23071493, 26116564, 27874952, 28498822, 32428030, 34073365, 37224811, 37516013
Complex Regional Pain Syndromes	Associate	31217010
COVID 19	Associate	34341659
Death	Associate	34341659
Endotoxemia	Associate	37820403
Epiretinal Membrane	Associate	36567907
Essential Hypertension	Associate	26149214
Glucosephosphate Dehydrogenase Deficiency	Associate	28522681
Granulomatous Disease Chronic	Associate	25252997
Hepatoblastoma	Associate	25806803
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16294028
HIV Infections	Stimulate	28314381
Hypoxia	Stimulate	28522681
Immune System Diseases	Associate	28314381
Inflammation	Stimulate	28498822
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	30709874
Inflammatory Bowel Diseases	Associate	30709874, 32064493, 37820403
Leukemia T Cell	Associate	33022753
Lung Diseases	Associate	28522681
Lung Neoplasms	Associate	25592377
Marfan Syndrome	Associate	37445606
Multiple Sclerosis	Associate	32655763
Myelodysplastic Syndromes	Associate	24719867
Nasopharyngeal Carcinoma	Associate	22013061
Neoplasm Metastasis	Associate	27874952, 28894215
Neoplasms	Associate	16083877, 16294028, 19732064, 22158615, 25423035, 25806803, 28498822, 28894215, 32428030
Neoplasms	Inhibit	34971930
Ovarian Diseases	Stimulate	16294028
Pancreatic Neoplasms	Associate	36061308
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	33022753
Prostatitis	Associate	16083877
Pulmonary Arterial Hypertension	Associate	28522681
Pulmonary Disease Chronic Obstructive	Associate	20395558
Respiratory Tract Infections	Associate	25592377
Skin Neoplasms	Associate	21167810
Tuberculosis Multidrug Resistant	Associate	16083877
Urinary Bladder Neoplasms	Associate	20473523, 21252614
Venous Insufficiency	Stimulate	32141705
Xeroderma Pigmentosum	Inhibit	21167810