Test Results

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Gene Set Broad SYSTEM_PROCESS

featureNameslogFCAveExprtP.Valueadj.P.ValBENTREZIDSYMBOLGENENAMEENSEMBL.HsaOMIM
100831.3074.55.5038.08e-081.887e-067.55310083USH1CUsher syndrome 1C (autosomal recessive, severe)ENSG00000006611276904, 602092, 605242
10142-2.7378.911-9.3282.596e-182.142e-1530.9210142AKAP9A kinase (PRKA) anchor protein (yotiao) 9ENSG00000127914604001, 611820
102420.88284.5914.2862.46e-050.00025712.12210242KCNMB2potassium large conductance calcium-activated channel, subfamily M, beta member 2ENSG00000197584605214
11131.7824.8743.7730.00019490.0015270.18681113CHGAchromogranin A (parathyroid secretory protein 1)ENSG00000100604118910
112550.72053.8954.6794.392e-065.852e-053.74811255HRH3histamine receptor H3ENSG00000101180604525
11291.3114.4195.3082.171e-074.338e-066.6081129CHRM2cholinergic receptor, muscarinic 2ENSG00000181072118493
133-3.8029.03-5.4699.634e-082.208e-067.385133ADMadrenomedullinENSG00000148926103275
1401.2674.4264.8252.243e-063.281e-054.385140ADORA3adenosine A3 receptorENSG00000121933600445
140465-0.744910.8-3.4640.00061110.004048-0.87140465MYL6Bmyosin, light chain 6B, alkali, smooth muscle and non-muscleENSG00000196465609930
14140.64184.4263.7870.00018470.0014610.23661414CRYBB1crystallin, beta B1ENSG00000100122600929, 611544
15851.2064.4536.1133.073e-091.166e-0710.691585CYP11B2cytochrome P450, family 11, subfamily B, polypeptide 2ENSG00000179142124080, 203400, 610600
1728-0.753210.28-3.390.00079350.005045-1.111728NQO1NAD(P)H dehydrogenase, quinone 1ENSG00000181019125860
17291.1636.1723.7290.00023030.0017630.031971729DIAPH1diaphanous homolog 1 (Drosophila)ENSG00000131504124900, 602121
17600.91944.6493.7020.00025510.001926-0.063191760DMPKdystrophia myotonica-protein kinaseENSG00000104936160900, 605377
18130.8764.3065.067.368e-071.241e-055.4431813DRD2dopamine receptor D2ENSG00000149295126450, 159900
1830.71324.3943.810.00016890.0013570.32183AGTangiotensinogen (serpin peptidase inhibitor, clade A, member 8)ENSG00000135744106150, 145500, 267430
18370.99924.7323.8350.00015350.0012590.40851837DTNAdystrobrevin, alphaENSG00000134769601239, 604169, 606617
20060.63564.4864.0516.529e-050.00060011.2072006ELNelastinENSG00000049540123700, 130160, 185500, 194050
20220.92414.3984.6964.052e-065.474e-053.8252022ENGendoglinENSG00000106991131195, 187300
2202-3.8019.301-5.0537.612e-071.274e-055.4122202EFEMP1EGF containing fibulin-like extracellular matrix protein 1ENSG00000115380126600, 601548
223-0.630711.15-3.3390.00094910.00588-1.274223ALDH9A1aldehyde dehydrogenase 9 family, member A1ENSG00000143149602733
23095-0.94668.114-4.2053.464e-050.00034741.80123095KIF1Bkinesin family member 1BENSG00000054523118210, 171300, 256700, 605995
236200.93764.2854.921.44e-062.236e-054.80623620NTSR2neurotensin receptor 2ENSG00000169006605538
2395-1.2667.974-3.8040.0001730.0013870.29742395FXNfrataxinENSG00000165060229300, 606829
25700.68094.7373.5790.00040310.002835-0.48652570GABRR2gamma-aminobutyric acid (GABA) A receptor, rho 2ENSG00000111886137162
26420.77424.6643.640.00032130.002338-0.27682642GCGRglucagon receptorENSG00000215644125853, 138033
2643-1.8639.586-4.6046.155e-067.769e-053.4292643GCH1GTP cyclohydrolase 1ENSG00000131979128230, 233910, 600225
26517-1.95110.36-7.0711.107e-119.268e-1016.1126517TIMM13translocase of inner mitochondrial membrane 13 homolog (yeast)ENSG00000099800607383
2697-2.2679.592-4.6215.705e-067.266e-053.5012697GJA1gap junction protein, alpha 1, 43kDaENSG00000152661121014, 164200, 186100, 234100, 241550, 257850, 600309
2729-0.8118.165-3.5470.00045280.003123-0.59392729GCLCglutamate-cysteine ligase, catalytic subunitENSG00000001084230450, 606857, 608446
2730-1.03610.05-3.7770.00019210.0015080.20032730GCLMglutamate-cysteine ligase, modifier subunitENSG00000023909601176, 608446
27790.63964.2063.5190.00050040.003405-0.68612779GNAT1guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1ENSG00000114349139330, 610444
29030.73384.6153.2910.0011180.006748-1.4242903GRIN2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2AENSG00000183454138253, 613971
29811.6844.3228.722.014e-168.32e-1426.72981GUCA2Bguanylate cyclase activator 2B (uroguanylin)ENSG00000044012601271
300620.7824.2334.7982.541e-063.646e-054.26730062RAXretina and anterior neural fold homeoboxENSG00000134438601881, 611038
308200.59814.5083.3620.00087420.005477-1.19930820KCNIP1Kv channel interacting protein 1ENSG00000182132604660
3201.1764.5886.0414.571e-091.648e-0710.31320APBA1amyloid beta (A4) precursor protein-binding, family A, member 1ENSG00000107282602414
33590.9254.4044.596.537e-068.172e-053.3723359HTR3A5-hydroxytryptamine (serotonin) receptor 3A, ionotropicENSG00000166736182139
33621.754.9877.2613.388e-123.304e-1017.263362HTR65-hydroxytryptamine (serotonin) receptor 6, G protein-coupledENSG00000158748601109
3440.86585.263.750.00021240.0016440.1067344APOC2apolipoprotein C-IIENSG00000234906207750, 608083
3590.86134.4673.7110.00024670.001871-0.03212359AQP2aquaporin 2 (collecting duct)ENSG00000167580107777, 125800
36270.99594.3144.9851.057e-061.701e-055.13627CXCL10chemokine (C-X-C motif) ligand 10ENSG00000169245147310
3641.3264.3876.8943.257e-112.41e-0915.07364AQP7aquaporin 7ENSG00000165269602974, 614411
37791.6974.3978.6243.952e-161.544e-1326.043779KCNMB1potassium large conductance calcium-activated channel, subfamily M, beta member 1ENSG00000145936603951, 608622
37860.88444.5284.2043.481e-050.00034871.7963786KCNQ3potassium voltage-gated channel, KQT-like subfamily, member 3ENSG00000184156121201, 602232
400.73234.5164.5657.327e-069.008e-053.26440ASIC2acid-sensing (proton-gated) ion channel 2ENSG00000108684601784
4071.0714.3136.0235.066e-091.811e-0710.21407ARR3arrestin 3, retinal (X-arrestin)ENSG00000120500301770
4070-2.66710.76-4.4959.989e-060.00011752.9714070TACSTD2tumor-associated calcium signal transducer 2ENSG00000184292137290, 204870
43591.034.6224.3361.992e-050.00021592.3214359MPZmyelin protein zeroENSG00000158887118200, 145900, 159440, 180800, 605253, 607677, 607736, 607791
45241.2834.3946.5292.859e-101.527e-0812.984524MTHFRmethylenetetrahydrofolate reductase (NAD(P)H)ENSG00000177000119530, 181500, 188050, 236250, 601634, 607093
46400.56284.3113.9978.105e-050.00072221.0044640MYO1Amyosin IAENSG00000166866601478, 607841
4646-3.0368.556-5.7272.503e-087.042e-078.6754646MYO6myosin VIENSG00000196586600970, 606346, 607821
46471.0854.6715.7492.231e-086.397e-078.7854647MYO7Amyosin VIIAENSG00000137474276900, 276903, 600060, 601317
46601.0875.3644.1354.624e-050.00044521.534660PPP1R12Bprotein phosphatase 1, regulatory subunit 12BENSG00000077157603768
47630.92584.7834.0037.907e-050.00070681.0284763NF1neurofibromin 1ENSG00000196712162200, 162210, 193520, 601321, 607785, 613113
48420.87464.6813.830.00015630.0012780.39184842NOS1nitric oxide synthase 1 (neuronal)ENSG00000089250163731, 179010
48780.71174.6843.2510.0012850.007602-1.5514878NPPAnatriuretic peptide AENSG00000175206108780, 612201
48811.7985.4745.2253.288e-076.144e-066.2124881NPR1natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)ENSG00000169418108960
48842.3644.6286.8584.072e-112.936e-0914.864884NPTX1neuronal pentraxin IENSG00000171246602367
4910.78054.4423.40.00076520.004896-1.077491ATP2B2ATPase, Ca++ transporting, plasma membrane 2ENSG00000157087108733, 601386
49232.9095.0276.6761.206e-107.303e-0913.814923NTSR1neurotensin receptor 1 (high affinity)ENSG00000101188162651
4942-0.703610.93-3.490.00055630.003733-0.78364942OATornithine aminotransferaseENSG00000065154258870, 613349
4976-2.1697.121-5.1824.059e-077.418e-066.0114976OPA1optic atrophy 1 (autosomal dominant)ENSG00000198836125250, 165500, 605290, 606657
49870.76944.3783.9898.361e-050.00074180.97534987OPRL1opiate receptor-like 1ENSG00000125510602548
5080-1.3247.329-3.8690.00013440.0011210.53225080PAX6paired box 6ENSG00000007372106210, 120200, 120430, 129750, 136520, 148190, 165550, 206700, 604219, 604229, 607108
51481.1615.0495.9766.555e-092.267e-079.9615148PDE6Gphosphodiesterase 6G, cGMP-specific, rod, gammaENSG00000185527180073, 613582
5540.72414.4193.2860.001140.00686-1.442554AVPR2arginine vasopressin receptor 2ENSG00000126895300538, 300539, 304800
57421.7014.3277.3951.457e-121.623e-1018.085742PTGS1prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)ENSG00000095303176805
5876-1.02210.45-5.2333.164e-075.963e-066.2495876RABGGTBRab geranylgeranyltransferase, beta subunitENSG00000137955179080
59571.4934.1957.5057.227e-138.886e-1118.755957RCVRNrecoverinENSG00000109047179618
59610.63814.4183.4660.0006060.004016-0.86245961PRPH2peripherin 2 (retinal degeneration, slow)ENSG00000112619136880, 169150, 179605, 608133, 608161, 613105
60100.80654.1414.0556.424e-050.00059231.2226010RHOrhodopsinENSG00000163914136880, 180380, 610445, 613731
62950.61084.3063.5150.00050770.003447-0.69936295SAGS-antigen; retina and pineal gland (arrestin)ENSG00000130561181031, 258100, 613758
63360.87374.9243.8210.00016160.0013120.36096336SCN10Asodium channel, voltage-gated, type X, alpha subunitENSG00000185313604427
63371.1614.9015.0497.774e-071.295e-055.3926337SCNN1Asodium channel, non-voltage-gated 1 alpha subunitENSG00000111319264350, 600228, 613021
63871.0214.3664.5587.571e-069.266e-053.2336387CXCL12chemokine (C-X-C motif) ligand 12ENSG00000107562600835, 609423
65301.4364.4456.7647.137e-114.704e-0914.316530SLC6A2solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2ENSG00000103546163970, 604715
65320.91434.2255.7791.898e-085.555e-078.9416532SLC6A4solute carrier family 6 (neurotransmitter transporter, serotonin), member 4ENSG00000108576164230, 182138, 607834
66411.4414.5546.6851.142e-106.953e-0913.866641SNTB1syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)ENSG00000172164600026
68530.75863.9824.4471.232e-050.00014122.7736853SYN1synapsin IENSG00000008056300491, 313440
69011.8996.9816.6391.505e-108.868e-0913.596901TAZtafazzinENSG00000102125300069, 300183, 300394, 302060
702.5714.58610.872.251e-235.571e-2042.2770ACTC1actin, alpha, cardiac muscle 1ENSG00000159251102540, 192600, 612098, 612794, 613424
7168-2.5810.43-5.5446.532e-081.577e-067.7567168TPM1tropomyosin 1 (alpha)ENSG00000140416115196, 191010, 611878
72990.66934.2353.5880.00038960.002751-0.45517299TYRtyrosinase (oculocutaneous albinism IA)ENSG00000077498103470, 203100, 601800, 606933, 606952
74021.6265.9043.670.00028720.002132-0.1737402UTRNutrophinENSG00000152818128240
7780.97094.6444.341.953e-050.00021242.339778CACNA1Fcalcium channel, voltage-dependent, L type, alpha 1F subunitENSG00000102001300071, 300110, 300476, 300600
78271.0574.3755.282.504e-074.911e-066.4727827NPHS2nephrosis 2, idiopathic, steroid-resistant (podocin)ENSG00000116218600995, 604766
7861.235.0945.2413.033e-075.773e-066.289786CACNG1calcium channel, voltage-dependent, gamma subunit 1ENSG00000108878114209
81061.6225.8573.7070.00025030.001895-0.045398106PABPN1poly(A) binding protein, nuclear 1ENSG00000100836164300, 602279
8451.0814.3994.8072.439e-063.529e-054.306845CASQ2calsequestrin 2 (cardiac muscle)ENSG00000118729114251, 604772, 611938
89120.82094.6553.9070.0001160.00098510.66988912CACNA1Hcalcium channel, voltage-dependent, T type, alpha 1H subunitENSG00000196557607904, 611942
89381.2654.8485.653.771e-089.906e-078.2828938BAIAP3BAI1-associated protein 3ENSG00000007516604009
90010.96254.8023.930.00010590.00091090.7559001HAP1huntingtin-associated protein 1ENSG00000173805600947
90380.99534.3895.1065.88e-071.015e-055.6589038TAAR5trace amine associated receptor 5ENSG00000135569607405
91770.79214.3843.4870.00056230.003767-0.79359177HTR3B5-hydroxytryptamine (serotonin) receptor 3B, ionotropicENSG00000149305604654
93120.83654.0324.6046.168e-067.78e-053.4279312KCNB2potassium voltage-gated channel, Shab-related subfamily, member 2ENSG00000182674607738
93620.82394.493.770.00019670.0015380.17839362CPNE6copine VI (neuronal)ENSG00000100884605688
9456-1.3137.797-3.7010.00025550.001927-0.06459456HOMER1homer homolog 1 (Drosophila)ENSG00000152413604798
96270.69694.7253.680.00027650.002065-0.13769627SNCAIPsynuclein, alpha interacting proteinENSG00000064692168600, 603779