NT5C3A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein neddylation (GO:0045116)7.35186269
2neutrophil activation involved in immune response (GO:0002283)6.34996429
3thrombin receptor signaling pathway (GO:0070493)5.52720137
4negative regulation of thymocyte apoptotic process (GO:0070244)4.67146039
5positive regulation of cAMP-mediated signaling (GO:0043950)4.29971269
6regulation of platelet aggregation (GO:0090330)4.21443595
7regulation of platelet activation (GO:0010543)4.18957490
8neutrophil activation (GO:0042119)4.09912358
9leukocyte migration involved in inflammatory response (GO:0002523)3.96712793
10purinergic nucleotide receptor signaling pathway (GO:0035590)3.78725141
11blood coagulation, intrinsic pathway (GO:0007597)3.76993402
12regulation of Golgi to plasma membrane protein transport (GO:0042996)3.75352586
13G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.73171900
14negative regulation of heart rate (GO:0010459)3.67082218
15granulocyte activation (GO:0036230)3.62366891
16regulation of MHC class II biosynthetic process (GO:0045346)3.59614868
17lipoxygenase pathway (GO:0019372)3.59364105
18regulation of T-helper 1 cell differentiation (GO:0045625)3.50073388
19pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.43968455
20positive regulation of endothelial cell differentiation (GO:0045603)3.39517044
21polyamine biosynthetic process (GO:0006596)3.23670908
22positive regulation of mast cell activation (GO:0033005)3.22382704
23negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.21793902
24purine-containing compound salvage (GO:0043101)3.18136907
25regulation of integrin-mediated signaling pathway (GO:2001044)3.15543859
26negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.15518048
27platelet aggregation (GO:0070527)3.15473784
28negative regulation of norepinephrine secretion (GO:0010700)3.11706779
29deoxyribose phosphate biosynthetic process (GO:0046385)3.07637590
302-deoxyribonucleotide biosynthetic process (GO:0009265)3.07637590
31antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.07491150
32positive regulation of macrophage differentiation (GO:0045651)3.06639889
33negative regulation of T cell apoptotic process (GO:0070233)3.05030684
34negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.03757858
35natural killer cell activation involved in immune response (GO:0002323)3.03086516
36adenosine receptor signaling pathway (GO:0001973)3.02692564
37regulation of regulatory T cell differentiation (GO:0045589)3.00678968
38amine catabolic process (GO:0009310)3.00413469
39cellular biogenic amine catabolic process (GO:0042402)3.00413469
40triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.98245216
41B cell mediated immunity (GO:0019724)2.97410770
42type I interferon signaling pathway (GO:0060337)2.95478518
43cellular response to type I interferon (GO:0071357)2.95478518
44positive regulation of toll-like receptor signaling pathway (GO:0034123)2.91241648
45negative regulation of homotypic cell-cell adhesion (GO:0034111)2.90023514
46regulation of mitochondrial depolarization (GO:0051900)2.89239528
47negative regulation of response to food (GO:0032096)2.89135358
48negative regulation of appetite (GO:0032099)2.89135358
49response to type I interferon (GO:0034340)2.88057917
50purinergic receptor signaling pathway (GO:0035587)2.88013723
51mitochondrial calcium ion transport (GO:0006851)2.87595753
52Arp2/3 complex-mediated actin nucleation (GO:0034314)2.87214896
53regulation of RIG-I signaling pathway (GO:0039535)2.86318622
54negative regulation of platelet activation (GO:0010544)2.85898939
55regulation of memory T cell differentiation (GO:0043380)2.84237260
56intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)2.83215048
57positive regulation of granulocyte differentiation (GO:0030854)2.81594830
58platelet dense granule organization (GO:0060155)2.80605056
59positive regulation of type 2 immune response (GO:0002830)2.76990253
60deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.74814479
61megakaryocyte development (GO:0035855)2.73207494
62positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.73118918
63superoxide anion generation (GO:0042554)2.71831262
64leukocyte degranulation (GO:0043299)2.71417968
65regulation of integrin activation (GO:0033623)2.70010125
66sequestering of actin monomers (GO:0042989)2.67503961
67regulation of macrophage derived foam cell differentiation (GO:0010743)2.65782353
68regulation of mast cell activation (GO:0033003)2.65623581
69immunoglobulin mediated immune response (GO:0016064)2.64141998
70negative regulation of T-helper cell differentiation (GO:0045623)2.61441367
71negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.61441367
72low-density lipoprotein particle remodeling (GO:0034374)2.61064497
73regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.59726739
74cellular biogenic amine biosynthetic process (GO:0042401)2.57079162
75positive regulation of T cell cytokine production (GO:0002726)2.56685697
76positive regulation of B cell differentiation (GO:0045579)2.55756460
77positive regulation of immunoglobulin mediated immune response (GO:0002891)2.54197326
78positive regulation of B cell mediated immunity (GO:0002714)2.54197326
79autophagic vacuole fusion (GO:0000046)2.53719296
80microglial cell activation (GO:0001774)2.52850600
81regulation of chronic inflammatory response (GO:0002676)2.52417294
82regulation of norepinephrine secretion (GO:0014061)2.52316730
83myeloid cell activation involved in immune response (GO:0002275)2.48363447
84polyamine metabolic process (GO:0006595)2.46709297
85positive regulation of DNA recombination (GO:0045911)2.46572370
86amine biosynthetic process (GO:0009309)2.45472776
87positive regulation of alpha-beta T cell proliferation (GO:0046641)2.45366911
88purine nucleotide salvage (GO:0032261)2.44639836
89negative regulation of interleukin-17 production (GO:0032700)2.44423996
90angiogenesis involved in wound healing (GO:0060055)2.42090064
91negative regulation of calcium ion transport into cytosol (GO:0010523)2.41672160
92positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.41611889
93regulation of immunoglobulin secretion (GO:0051023)2.40520383
94fusion of sperm to egg plasma membrane (GO:0007342)2.40239204
95organelle membrane fusion (GO:0090174)2.40197969
96G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.39187238
97dendritic cell chemotaxis (GO:0002407)2.39032860
98actin nucleation (GO:0045010)2.38822804
99cyclooxygenase pathway (GO:0019371)2.36261988
100positive regulation of isotype switching (GO:0045830)2.36121844

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse3.70552413
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.58105000
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.47937804
4IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.36782552
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.32335921
6LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.01719200
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.66271716
8SCL_19346495_ChIP-Seq_HPC-7_Human2.50917242
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.49406928
10SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.34248065
11GATA1_22025678_ChIP-Seq_K562_Human2.27404539
12IRF8_27001747_Chip-Seq_BMDM_Mouse2.06628024
13Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.99118806
14RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.96921106
15IGF1R_20145208_ChIP-Seq_DFB_Human1.95148480
16LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.94479193
17FLI1_27457419_Chip-Seq_LIVER_Mouse1.93975000
18GBX2_23144817_ChIP-Seq_PC3_Human1.91671893
19GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.86224744
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.83132002
21MYB_21317192_ChIP-Seq_ERMYB_Mouse1.82199893
22STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.80940299
23TAF15_26573619_Chip-Seq_HEK293_Human1.80607441
24SMAD_19615063_ChIP-ChIP_OVARY_Human1.79860913
25HTT_18923047_ChIP-ChIP_STHdh_Human1.79431041
26ELF1_17652178_ChIP-ChIP_JURKAT_Human1.72275998
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72079675
28EWS_26573619_Chip-Seq_HEK293_Human1.64775650
29VDR_22108803_ChIP-Seq_LS180_Human1.63100864
30CDX2_19796622_ChIP-Seq_MESCs_Mouse1.60539829
31HOXB4_20404135_ChIP-ChIP_EML_Mouse1.59748458
32NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.58999725
33SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.55187518
34GATA3_26560356_Chip-Seq_TH2_Human1.54940287
35SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.49138171
36SPI1_23547873_ChIP-Seq_NB4_Human1.48780733
37MYB_26560356_Chip-Seq_TH2_Human1.43774750
38EZH2_27294783_Chip-Seq_NPCs_Mouse1.42978880
39STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.39010486
40GATA2_21666600_ChIP-Seq_HMVEC_Human1.38935902
41PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38499331
42GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.37902862
43GATA2_19941826_ChIP-Seq_K562_Human1.37617291
44SALL4_22934838_ChIP-ChIP_CD34+_Human1.37340153
45SPI1_23127762_ChIP-Seq_K562_Human1.35032072
46SUZ12_27294783_Chip-Seq_NPCs_Mouse1.33853233
47MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.33492385
48IRF1_19129219_ChIP-ChIP_H3396_Human1.32539601
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.32345607
50NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.32108695
51GATA1_19941826_ChIP-Seq_K562_Human1.32079848
52STAT4_19710469_ChIP-ChIP_TH1__Mouse1.31616580
53ER_23166858_ChIP-Seq_MCF-7_Human1.27331113
54PCGF2_27294783_Chip-Seq_ESCs_Mouse1.26589383
55EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25534969
56NFE2_27457419_Chip-Seq_LIVER_Mouse1.22423729
57UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21824731
58GATA3_27048872_Chip-Seq_THYMUS_Human1.21585485
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.20216106
60ELK1_19687146_ChIP-ChIP_HELA_Human1.20117115
61STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16461604
62P300_19829295_ChIP-Seq_ESCs_Human1.16292310
63NANOG_19829295_ChIP-Seq_ESCs_Human1.15960762
64SOX2_19829295_ChIP-Seq_ESCs_Human1.15960762
65BP1_19119308_ChIP-ChIP_Hs578T_Human1.15715738
66TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.15479064
67CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.13194456
68CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.12949304
69CRX_20693478_ChIP-Seq_RETINA_Mouse1.12778097
70RUNX_20019798_ChIP-Seq_JUKART_Human1.12402348
71KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.11428061
72SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.11126385
73P53_22387025_ChIP-Seq_ESCs_Mouse1.10401724
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09666294
75GATA2_22383799_ChIP-Seq_G1ME_Mouse1.09320609
76FOXA1_21572438_ChIP-Seq_LNCaP_Human1.08382301
77FOXA1_25329375_ChIP-Seq_VCAP_Human1.08381950
78FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08381950
79CDX2_22108803_ChIP-Seq_LS180_Human1.08020865
80VDR_23849224_ChIP-Seq_CD4+_Human1.07804687
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.07139603
82NRF2_20460467_ChIP-Seq_MEFs_Mouse1.07139603
83OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06270293
84PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04120346
85SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03568056
86OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03201694
87GATA1_19941827_ChIP-Seq_MEL_Mouse1.03185503
88PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.03041942
89GATA1_22383799_ChIP-Seq_G1ME_Mouse1.02127319
90AR_20517297_ChIP-Seq_VCAP_Human1.01351786
91SMRT_27268052_Chip-Seq_Bcells_Human1.00699931
92RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.00237764
93EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99715258
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.99566366
95SUZ12_18555785_Chip-Seq_ESCs_Mouse0.98749572
96EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.98563803
97FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.97832624
98PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97775846
99NANOG_18555785_Chip-Seq_ESCs_Mouse0.97716493
100E2F1_18555785_Chip-Seq_ESCs_Mouse0.97613875

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology6.71408215
2MP0003724_increased_susceptibility_to4.60610514
3MP0008004_abnormal_stomach_pH3.68148403
4MP0001835_abnormal_antigen_presentation3.58262370
5MP0003303_peritoneal_inflammation3.26998308
6MP0000465_gastrointestinal_hemorrhage2.96902029
7MP0005671_abnormal_response_to2.52602603
8MP0002148_abnormal_hypersensitivity_rea2.37393951
9MP0005000_abnormal_immune_tolerance2.18707375
10MP0009785_altered_susceptibility_to2.11261863
11MP0005084_abnormal_gallbladder_morpholo2.08117425
12MP0001800_abnormal_humoral_immune1.98251391
13MP0000343_altered_response_to1.86716245
14MP0002723_abnormal_immune_serum1.84505233
15MP0009764_decreased_sensitivity_to1.78516566
16MP0010155_abnormal_intestine_physiology1.77700078
17MP0002452_abnormal_antigen_presenting1.76137177
18MP0006054_spinal_hemorrhage1.70275642
19MP0001790_abnormal_immune_system1.69640504
20MP0005387_immune_system_phenotype1.69640504
21MP0004510_myositis1.64253827
22MP0002398_abnormal_bone_marrow1.59371580
23MP0002736_abnormal_nociception_after1.56728106
24MP0008872_abnormal_physiological_respon1.56393892
25MP0005025_abnormal_response_to1.55305204
26MP0006036_abnormal_mitochondrial_physio1.50090746
27MP0001819_abnormal_immune_cell1.49191085
28MP0002420_abnormal_adaptive_immunity1.48951008
29MP0005397_hematopoietic_system_phenotyp1.47548993
30MP0001545_abnormal_hematopoietic_system1.47548993
31MP0003806_abnormal_nucleotide_metabolis1.47083291
32MP0001845_abnormal_inflammatory_respons1.43026817
33MP0000230_abnormal_systemic_arterial1.42890775
34MP0003656_abnormal_erythrocyte_physiolo1.41149198
35MP0003436_decreased_susceptibility_to1.37864145
36MP0005167_abnormal_blood-brain_barrier1.37683831
37MP0000689_abnormal_spleen_morphology1.37623613
38MP0002132_abnormal_respiratory_system1.37156992
39MP0002419_abnormal_innate_immunity1.36067895
40MP0005410_abnormal_fertilization1.35836620
41MP0005646_abnormal_pituitary_gland1.31828234
42MP0003186_abnormal_redox_activity1.27995760
43MP0000685_abnormal_immune_system1.25462699
44MP0000716_abnormal_immune_system1.23200746
45MP0009763_increased_sensitivity_to1.21818655
46MP0003866_abnormal_defecation1.21104419
47MP0002429_abnormal_blood_cell1.19902458
48MP0003300_gastrointestinal_ulcer1.17188441
49MP0006082_CNS_inflammation1.16580493
50MP0002722_abnormal_immune_system1.15448111
51MP0002332_abnormal_exercise_endurance1.14261609
52MP0005083_abnormal_biliary_tract1.13819821
53MP0009333_abnormal_splenocyte_physiolog1.10253132
54MP0001663_abnormal_digestive_system1.09737834
55MP0004947_skin_inflammation1.08347052
56MP0001533_abnormal_skeleton_physiology1.08280881
57MP0006035_abnormal_mitochondrial_morpho1.07308224
58MP0002138_abnormal_hepatobiliary_system1.05896937
59MP0009765_abnormal_xenobiotic_induced1.05127826
60MP0000015_abnormal_ear_pigmentation1.04786500
61MP0004215_abnormal_myocardial_fiber1.02190503
62MP0005645_abnormal_hypothalamus_physiol0.99380227
63MP0002837_dystrophic_cardiac_calcinosis0.99119770
64MP0005535_abnormal_body_temperature0.98792749
65MP0000372_irregular_coat_pigmentation0.98037114
66MP0003638_abnormal_response/metabolism_0.97617052
67MP0004084_abnormal_cardiac_muscle0.97514686
68MP0008877_abnormal_DNA_methylation0.96279396
69MP0002102_abnormal_ear_morphology0.94905960
70MP0001968_abnormal_touch/_nociception0.94127557
71MP0003763_abnormal_thymus_physiology0.92378720
72MP0001851_eye_inflammation0.90834875
73MP0008775_abnormal_heart_ventricle0.90108704
74MP0008469_abnormal_protein_level0.89181231
75MP0005075_abnormal_melanosome_morpholog0.88114927
76MP0003787_abnormal_imprinting0.87887977
77MP0004484_altered_response_of0.86792558
78MP0000249_abnormal_blood_vessel0.86617106
79MP0005310_abnormal_salivary_gland0.85031853
80MP0002139_abnormal_hepatobiliary_system0.84557773
81MP0002163_abnormal_gland_morphology0.84292413
82MP0009697_abnormal_copulation0.83647412
83MP0008874_decreased_physiological_sensi0.82373165
84MP0002693_abnormal_pancreas_physiology0.81311448
85MP0003828_pulmonary_edema0.80222257
86MP0002405_respiratory_system_inflammati0.79232522
87MP0003075_altered_response_to0.79021188
88MP0009642_abnormal_blood_homeostasis0.78102720
89MP0003718_maternal_effect0.77046047
90MP0002733_abnormal_thermal_nociception0.76236194
91MP0005058_abnormal_lysosome_morphology0.76152573
92MP0010329_abnormal_lipoprotein_level0.75563968
93MP0006276_abnormal_autonomic_nervous0.72891234
94MP0005266_abnormal_metabolism0.72791847
95MP0000358_abnormal_cell_content/0.71542329
96MP0004147_increased_porphyrin_level0.70700715
97MP0005636_abnormal_mineral_homeostasis0.70562770
98MP0000703_abnormal_thymus_morphology0.70051416
99MP0003183_abnormal_peptide_metabolism0.69442988
100MP0004883_abnormal_blood_vessel0.69207243

Predicted human phenotypes

RankGene SetZ-score
1Prolonged bleeding time (HP:0003010)8.38395269
2Petechiae (HP:0000967)7.57915482
3Increased mean platelet volume (HP:0011877)7.30298700
4Menorrhagia (HP:0000132)7.01324184
5Abnormal platelet volume (HP:0011876)6.88206684
6Purpura (HP:0000979)6.13207192
7Epistaxis (HP:0000421)5.48117342
8Gingival bleeding (HP:0000225)4.75193326
9Hyperlipoproteinemia (HP:0010980)3.89123576
10Abnormal platelet function (HP:0011869)3.77039301
11Impaired platelet aggregation (HP:0003540)3.77039301
12Dyschromatopsia (HP:0007641)3.66408033
13Stomatitis (HP:0010280)3.60840267
14Acanthocytosis (HP:0001927)3.19381936
15Abnormality of lateral ventricle (HP:0030047)3.11672601
16Poikilocytosis (HP:0004447)3.07249478
173-Methylglutaconic aciduria (HP:0003535)2.97265373
18Increased IgM level (HP:0003496)2.87431927
19Spontaneous hematomas (HP:0007420)2.81187777
20Paralysis (HP:0003470)2.76109582
21Abnormality of the heme biosynthetic pathway (HP:0010472)2.73211087
22Abnormal pupillary function (HP:0007686)2.69279548
23Conjunctival telangiectasia (HP:0000524)2.66042861
24Generalized aminoaciduria (HP:0002909)2.62743333
25Abnormality of the vasculature of the conjunctiva (HP:0008054)2.55826238
26Nausea (HP:0002018)2.50149593
27Abnormality of the prostate (HP:0008775)2.47954492
28Joint swelling (HP:0001386)2.47834879
29Encephalitis (HP:0002383)2.42435832
30Abnormality of macrophages (HP:0004311)2.42368096
31Hepatosplenomegaly (HP:0001433)2.36908405
32Autoimmune hemolytic anemia (HP:0001890)2.35873361
33Acute necrotizing encephalopathy (HP:0006965)2.32372587
34Decreased central vision (HP:0007663)2.29989423
35Progressive macrocephaly (HP:0004481)2.16622690
36Exertional dyspnea (HP:0002875)2.14399517
37Abnormal mitochondria in muscle tissue (HP:0008316)2.13500110
38Tinnitus (HP:0000360)2.10761969
39Bruising susceptibility (HP:0000978)2.07189769
40Obstructive lung disease (HP:0006536)2.07026131
41Chronic obstructive pulmonary disease (HP:0006510)2.07026131
42Increased density of long bones (HP:0006392)2.04537208
43Renal Fanconi syndrome (HP:0001994)2.02773400
44Acute encephalopathy (HP:0006846)2.02243590
45Tongue fasciculations (HP:0001308)2.00033497
46Recurrent bacterial skin infections (HP:0005406)1.98704060
47Optic neuritis (HP:0100653)1.96948781
48Retrobulbar optic neuritis (HP:0100654)1.96948781
49Abnormality of iron homeostasis (HP:0011031)1.96288595
50Renal cortical cysts (HP:0000803)1.95236822
51Elevated erythrocyte sedimentation rate (HP:0003565)1.95160022
52Abnormality of the common coagulation pathway (HP:0010990)1.94494986
53Episodic fever (HP:0001954)1.93071420
54Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.90576097
55Abnormality of alanine metabolism (HP:0010916)1.90576097
56Hyperalaninemia (HP:0003348)1.90576097
57Arterial thrombosis (HP:0004420)1.88838684
58IgG deficiency (HP:0004315)1.88377564
59Biliary tract neoplasm (HP:0100574)1.88255216
60Chronic otitis media (HP:0000389)1.87324463
61Recurrent abscess formation (HP:0002722)1.86122332
62Muscle fibrillation (HP:0010546)1.84010869
63Acute hepatic failure (HP:0006554)1.83251968
64Mitochondrial inheritance (HP:0001427)1.82814338
65Polyphagia (HP:0002591)1.81868406
66Papillary thyroid carcinoma (HP:0002895)1.80197475
67Abnormality of transition element cation homeostasis (HP:0011030)1.77989664
68Eczematoid dermatitis (HP:0000976)1.77827097
69Abnormal auditory evoked potentials (HP:0006958)1.76886141
70Leukocytosis (HP:0001974)1.72860782
71Basal ganglia calcification (HP:0002135)1.68716125
72Abnormality of B cell number (HP:0010975)1.67866844
73Vasculitis (HP:0002633)1.66154136
74Hepatic necrosis (HP:0002605)1.64893063
75Upper limb muscle weakness (HP:0003484)1.63462122
76Increased CSF lactate (HP:0002490)1.63034928
77Chronic sinusitis (HP:0011109)1.61296976
78Abnormality of renal resorption (HP:0011038)1.61281147
79Chest pain (HP:0100749)1.61098291
80Decreased activity of mitochondrial respiratory chain (HP:0008972)1.61041516
81Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.61041516
82Orchitis (HP:0100796)1.60832725
83Eosinophilia (HP:0001880)1.59442622
84Abolished electroretinogram (ERG) (HP:0000550)1.59032597
85Albinism (HP:0001022)1.58734778
86Keratoconjunctivitis sicca (HP:0001097)1.56510646
87Abnormality of the renal cortex (HP:0011035)1.55035932
88Vertigo (HP:0002321)1.53866054
89Panhypogammaglobulinemia (HP:0003139)1.53475926
90Cerebral edema (HP:0002181)1.53279303
91Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.53128095
92Keratoconjunctivitis (HP:0001096)1.52667536
93Thyroid carcinoma (HP:0002890)1.52485510
94Abnormality of T cell number (HP:0011839)1.52422911
95Central scotoma (HP:0000603)1.51147119
96Granulocytopenia (HP:0001913)1.49159646
97Amaurosis fugax (HP:0100576)1.48544964
98Increased intramyocellular lipid droplets (HP:0012240)1.48408204
99Myositis (HP:0100614)1.47996691
100T lymphocytopenia (HP:0005403)1.47506368

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST45.02726015
2EIF2AK13.32373950
3RIPK43.28446121
4TEC2.95873138
5TAOK32.76794563
6BTK2.28148534
7TRIM282.27970672
8BMX2.24707838
9BMPR22.20223907
10MYLK2.04487990
11SYK1.92540213
12CSF1R1.87829178
13FRK1.80718635
14ACVR1B1.77605500
15ADRBK21.77012532
16PTK2B1.66775567
17TXK1.62265492
18MAP4K21.53412765
19GRK51.47286854
20BLK1.44473836
21MAP3K121.43486275
22IKBKB1.43481692
23ERBB31.39129035
24SIK31.32757480
25PIK3CG1.29894490
26STK31.26550174
27LYN1.25899754
28MATK1.24162606
29NUAK11.23790157
30IKBKE1.21606179
31BCR1.18631481
32GRK61.18429807
33BMPR1B1.17900578
34PIM21.15944244
35IRAK11.15009544
36ZAP701.14313590
37HCK1.12890965
38JAK31.12245372
39EIF2AK31.08177103
40EPHA31.07168933
41FGR1.06928635
42ZAK1.06376271
43STK241.05090477
44PLK21.03713602
45TNK21.02713179
46LMTK20.97144026
47ITK0.96203530
48MAP3K50.95961951
49GRK10.95230259
50FES0.91766898
51MAPK130.90912273
52ILK0.89283457
53IRAK40.88829785
54MAP3K40.87824263
55CAMKK20.87562595
56JAK10.86225073
57MAPKAPK30.85577219
58MAP4K10.85005466
59BCKDK0.81762367
60KIT0.74497133
61TBK10.72974981
62WNK30.72715996
63MAP3K140.71602265
64DAPK20.70607820
65MARK30.68350148
66GRK70.68339144
67TYK20.67667576
68DAPK10.66387249
69FER0.65653251
70DYRK30.65265920
71PAK10.63124840
72LCK0.61746499
73JAK20.60807121
74ADRBK10.59882691
75CSK0.59835243
76TNIK0.59620771
77CSNK1G30.59374450
78BRSK20.58682415
79MAP2K70.55917024
80DAPK30.55065191
81PRKCE0.51036877
82MAP3K30.48484426
83PRKCQ0.48323517
84CSNK1G10.46244121
85YES10.46138242
86OBSCN0.45108122
87VRK10.45102261
88PKN10.44271942
89RPS6KA50.43964034
90MINK10.43568058
91PLK30.43334055
92TLK10.43331261
93IRAK20.39639276
94PAK30.39575008
95NLK0.38119456
96PIM10.37595578
97CSNK1G20.37418478
98MAP2K30.37373619
99NEK10.36333918
100PRKACG0.34961504

Predicted pathways (KEGG)

RankGene SetZ-score
1Platelet activation_Homo sapiens_hsa046113.54823942
2SNARE interactions in vesicular transport_Homo sapiens_hsa041303.10117799
3Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.89642711
4Asthma_Homo sapiens_hsa053102.58573434
5Allograft rejection_Homo sapiens_hsa053302.51121072
6Hematopoietic cell lineage_Homo sapiens_hsa046402.45405768
7Autoimmune thyroid disease_Homo sapiens_hsa053202.24856988
8Sulfur metabolism_Homo sapiens_hsa009202.24000596
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.19655958
10Graft-versus-host disease_Homo sapiens_hsa053322.15776321
11Type I diabetes mellitus_Homo sapiens_hsa049402.15454350
12Nitrogen metabolism_Homo sapiens_hsa009101.96123312
13Mismatch repair_Homo sapiens_hsa034301.90802370
14Collecting duct acid secretion_Homo sapiens_hsa049661.89067274
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.83391183
16Arachidonic acid metabolism_Homo sapiens_hsa005901.78690434
17Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.70854742
18Primary immunodeficiency_Homo sapiens_hsa053401.69017697
19Systemic lupus erythematosus_Homo sapiens_hsa053221.63132102
20Rheumatoid arthritis_Homo sapiens_hsa053231.63067970
21RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.59921098
22Chemokine signaling pathway_Homo sapiens_hsa040621.57065343
23Fatty acid elongation_Homo sapiens_hsa000621.52176312
24Toll-like receptor signaling pathway_Homo sapiens_hsa046201.51416353
25Staphylococcus aureus infection_Homo sapiens_hsa051501.44563771
26Legionellosis_Homo sapiens_hsa051341.43871292
27* Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.42978071
28NOD-like receptor signaling pathway_Homo sapiens_hsa046211.35099944
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.30025741
30Leishmaniasis_Homo sapiens_hsa051401.29165265
31Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.27814634
32Measles_Homo sapiens_hsa051621.26665908
33Shigellosis_Homo sapiens_hsa051311.23447951
34alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.20945270
35NF-kappa B signaling pathway_Homo sapiens_hsa040641.17064256
36Glutathione metabolism_Homo sapiens_hsa004801.14651259
37Herpes simplex infection_Homo sapiens_hsa051681.13998479
38Phagosome_Homo sapiens_hsa041451.12728460
39Parkinsons disease_Homo sapiens_hsa050121.12369878
40Serotonergic synapse_Homo sapiens_hsa047261.10406956
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.09615233
42Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.09553915
43Oxidative phosphorylation_Homo sapiens_hsa001901.05607751
44Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.04724353
45Osteoclast differentiation_Homo sapiens_hsa043801.02506033
46Regulation of autophagy_Homo sapiens_hsa041401.00044267
47Tuberculosis_Homo sapiens_hsa051520.99690792
48Influenza A_Homo sapiens_hsa051640.97793046
49Alcoholism_Homo sapiens_hsa050340.95171676
50Linoleic acid metabolism_Homo sapiens_hsa005910.92895939
51Proteasome_Homo sapiens_hsa030500.92886644
52Viral myocarditis_Homo sapiens_hsa054160.92593155
53B cell receptor signaling pathway_Homo sapiens_hsa046620.91045742
54Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.90151257
55Antigen processing and presentation_Homo sapiens_hsa046120.87020193
56Malaria_Homo sapiens_hsa051440.82095190
57Phototransduction_Homo sapiens_hsa047440.79850199
58Jak-STAT signaling pathway_Homo sapiens_hsa046300.79716773
59Homologous recombination_Homo sapiens_hsa034400.76292319
60Protein export_Homo sapiens_hsa030600.75043390
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73386207
62Sphingolipid metabolism_Homo sapiens_hsa006000.72964419
63T cell receptor signaling pathway_Homo sapiens_hsa046600.72483681
64Pancreatic secretion_Homo sapiens_hsa049720.67604872
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67415017
66Salmonella infection_Homo sapiens_hsa051320.65830116
67Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62529722
68beta-Alanine metabolism_Homo sapiens_hsa004100.59294108
69Pertussis_Homo sapiens_hsa051330.59123489
70Toxoplasmosis_Homo sapiens_hsa051450.58078885
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.55722743
72Vascular smooth muscle contraction_Homo sapiens_hsa042700.55320010
73Endocytosis_Homo sapiens_hsa041440.53067715
74Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.51795724
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51374001
76Steroid hormone biosynthesis_Homo sapiens_hsa001400.51348401
77Hepatitis C_Homo sapiens_hsa051600.50333049
78Ether lipid metabolism_Homo sapiens_hsa005650.50220942
79Glycerolipid metabolism_Homo sapiens_hsa005610.50196568
80Gap junction_Homo sapiens_hsa045400.50068666
81Long-term depression_Homo sapiens_hsa047300.49828565
82Peroxisome_Homo sapiens_hsa041460.49235367
83Viral carcinogenesis_Homo sapiens_hsa052030.47000169
84Renin-angiotensin system_Homo sapiens_hsa046140.46177042
85Non-homologous end-joining_Homo sapiens_hsa034500.45454175
86Olfactory transduction_Homo sapiens_hsa047400.45411061
87Maturity onset diabetes of the young_Homo sapiens_hsa049500.45307962
88Chemical carcinogenesis_Homo sapiens_hsa052040.44824801
89African trypanosomiasis_Homo sapiens_hsa051430.44080050
90Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43990172
91TNF signaling pathway_Homo sapiens_hsa046680.40345936
92Fanconi anemia pathway_Homo sapiens_hsa034600.39535182
93Starch and sucrose metabolism_Homo sapiens_hsa005000.39080388
94* Purine metabolism_Homo sapiens_hsa002300.38038545
95Fat digestion and absorption_Homo sapiens_hsa049750.37196117
96Transcriptional misregulation in cancer_Homo sapiens_hsa052020.36134941
97Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.34324305
98Apoptosis_Homo sapiens_hsa042100.33630473
99Hepatitis B_Homo sapiens_hsa051610.32948007
100Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.32941510

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