AZU1

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: Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of phagocytosis (GO:0050765)8.91973183
2myeloid leukocyte mediated immunity (GO:0002444)8.74609298
3protoporphyrinogen IX biosynthetic process (GO:0006782)7.72614303
4killing of cells of other organism (GO:0031640)7.23778327
5disruption of cells of other organism (GO:0044364)7.23778327
6regulation of interleukin-8 biosynthetic process (GO:0045414)6.79305023
7negative regulation of interleukin-8 production (GO:0032717)6.71139831
8reactive oxygen species biosynthetic process (GO:1903409)6.66143380
9protoporphyrinogen IX metabolic process (GO:0046501)6.55715296
10response to fungus (GO:0009620)6.52394385
11defense response to fungus (GO:0050832)6.23773854
12* regulation of chemokine biosynthetic process (GO:0045073)6.22065947
13purine deoxyribonucleotide catabolic process (GO:0009155)5.67932933
14angiotensin maturation (GO:0002003)5.59419976
15centriole replication (GO:0007099)5.57381453
16negative regulation of chemokine production (GO:0032682)5.28439943
17deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.22052496
18leukocyte mediated cytotoxicity (GO:0001909)4.96005326
19positive regulation of histone deacetylation (GO:0031065)4.83204338
20deoxyribonucleotide catabolic process (GO:0009264)4.73858801
21deoxyribose phosphate catabolic process (GO:0046386)4.52996455
22hydrogen peroxide catabolic process (GO:0042744)4.49484068
23base-excision repair, AP site formation (GO:0006285)4.43305982
24pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.40217951
25respiratory burst (GO:0045730)4.37433012
26N-acetylneuraminate metabolic process (GO:0006054)4.34920233
27heme biosynthetic process (GO:0006783)4.32384206
28low-density lipoprotein particle remodeling (GO:0034374)4.19830028
29ribosomal small subunit biogenesis (GO:0042274)4.13281292
30centriole assembly (GO:0098534)4.08479769
31removal of superoxide radicals (GO:0019430)4.04460198
32cellular response to superoxide (GO:0071451)4.04460198
33cellular response to oxygen radical (GO:0071450)4.04460198
34macrophage differentiation (GO:0030225)4.02781778
35pyrimidine nucleotide catabolic process (GO:0006244)4.01683687
36modification by host of symbiont morphology or physiology (GO:0051851)3.85030140
37cell killing (GO:0001906)3.82643918
38interaction with symbiont (GO:0051702)3.71769820
39inflammatory response to antigenic stimulus (GO:0002437)3.68561175
40ether lipid metabolic process (GO:0046485)3.62193731
41purine deoxyribonucleotide metabolic process (GO:0009151)3.61264726
42positive regulation of protein deacetylation (GO:0090312)3.59619118
43porphyrin-containing compound biosynthetic process (GO:0006779)3.57920143
44positive regulation of B cell differentiation (GO:0045579)3.56960289
45innate immune response in mucosa (GO:0002227)3.47350971
46response to oxygen radical (GO:0000305)3.44480118
47response to peptidoglycan (GO:0032494)3.36930682
48amino sugar catabolic process (GO:0046348)3.34935945
49cellular response to exogenous dsRNA (GO:0071360)3.31714381
50ribosomal small subunit assembly (GO:0000028)3.25864240
51response to superoxide (GO:0000303)3.23134150
52viral transcription (GO:0019083)3.21160351
53antibacterial humoral response (GO:0019731)3.15681031
542-deoxyribonucleotide metabolic process (GO:0009394)3.15273208
55tetrapyrrole biosynthetic process (GO:0033014)3.12752431
56hydrogen peroxide metabolic process (GO:0042743)3.09478087
57translational termination (GO:0006415)3.04159232
58heme metabolic process (GO:0042168)3.01401814
59positive regulation of histone H3-K4 methylation (GO:0051571)2.94706976
60deoxyribose phosphate metabolic process (GO:0019692)2.94087602
61response to food (GO:0032094)2.87442474
62antimicrobial humoral response (GO:0019730)2.86961997
63regulation of fatty acid transport (GO:2000191)2.86719149
64negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.82202691
65neutrophil activation involved in immune response (GO:0002283)2.75359913
66phagocytosis (GO:0006909)2.75116981
67DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.73630365
68mucosal immune response (GO:0002385)2.73481349
69negative regulation of chemotaxis (GO:0050922)2.72025338
70positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.71011312
71insulin-like growth factor receptor signaling pathway (GO:0048009)2.70612121
72response to folic acid (GO:0051593)2.69183824
73regulation of protein import into nucleus, translocation (GO:0033158)2.68149314
74organ or tissue specific immune response (GO:0002251)2.63770577
75negative regulation of histone acetylation (GO:0035067)2.63308709
76response to misfolded protein (GO:0051788)2.60635251
77pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.58668263
78glycerol ether metabolic process (GO:0006662)2.56708607
79porphyrin-containing compound metabolic process (GO:0006778)2.55455651
80dendritic cell differentiation (GO:0097028)2.55195436
81regulation of histone deacetylation (GO:0031063)2.53551933
82negative regulation of B cell apoptotic process (GO:0002903)2.53037164
83deoxyribonucleotide metabolic process (GO:0009262)2.52204848
84transcription from mitochondrial promoter (GO:0006390)2.52031786
85thalamus development (GO:0021794)2.48775087
86deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.47494818
87SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.47056378
88negative regulation of cytokine biosynthetic process (GO:0042036)2.46689146
89DNA damage response, signal transduction resulting in transcription (GO:0042772)2.46210698
90cytokinetic process (GO:0032506)2.42980147
91negative regulation of erythrocyte differentiation (GO:0045647)2.42542707
92positive regulation of interleukin-8 production (GO:0032757)2.41936645
93disruption of cells of other organism involved in symbiotic interaction (GO:0051818)12.7693585
94killing of cells in other organism involved in symbiotic interaction (GO:0051883)12.7693585
95neutrophil mediated immunity (GO:0002446)11.5240265
96modulation of growth of symbiont involved in interaction with host (GO:0044144)10.9324688
97regulation of growth of symbiont in host (GO:0044126)10.9324688
98negative regulation of growth of symbiont in host (GO:0044130)10.9324688
99negative regulation of growth of symbiont involved in interaction with host (GO:0044146)10.9324688
100positive regulation of interleukin-8 biosynthetic process (GO:0045416)10.0075801

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* VDR_21846776_ChIP-Seq_THP-1_Human6.04857251
2SCL_19346495_ChIP-Seq_HPC-7_Human4.96266125
3* VDR_24763502_ChIP-Seq_THP-1_Human4.16547397
4STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.97775337
5ZNF652_21678463_ChIP-ChIP_ZR75-1_Human3.20019278
6E2F7_22180533_ChIP-Seq_HELA_Human2.97990097
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.97765231
8RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.84956637
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.59987452
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.47021028
11IRF8_22096565_ChIP-ChIP_GC-B_Human2.36600771
12IKZF1_21737484_ChIP-ChIP_HCT116_Human2.33694046
13SPI1_23547873_ChIP-Seq_NB4_Human2.30388045
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.12093670
15IGF1R_20145208_ChIP-Seq_DFB_Human2.11876562
16LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.07502880
17MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.89199639
18CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.86364583
19TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.86121694
20BCL6_27268052_Chip-Seq_Bcells_Human1.82675253
21EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.81404112
22SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80643390
23MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.77039777
24MYC_22102868_ChIP-Seq_BL_Human1.76346585
25ELF1_20517297_ChIP-Seq_JURKAT_Human1.75821017
26BP1_19119308_ChIP-ChIP_Hs578T_Human1.73950068
27EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.73720764
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.71901928
29PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.71085041
30UTX_26944678_Chip-Seq_JUKART_Human1.70103092
31LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.66111804
32MAF_26560356_Chip-Seq_TH2_Human1.64263397
33CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.62858277
34NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.62802818
35MYB_21317192_ChIP-Seq_ERMYB_Mouse1.61716478
36MYB_26560356_Chip-Seq_TH2_Human1.61573421
37FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.60936773
38TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58997661
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.57865922
40LXR_22292898_ChIP-Seq_THP-1_Human1.55618978
41BRD4_27068464_Chip-Seq_AML-cells_Mouse1.54934469
42GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.54800367
43MYB_26560356_Chip-Seq_TH1_Human1.52347728
44KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.47836217
45VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.45634025
46MAF_26560356_Chip-Seq_TH1_Human1.43257671
47TET1_21451524_ChIP-Seq_MESCs_Mouse1.42878249
48SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.41285242
49PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.41150335
50JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.40376926
51MYC_18358816_ChIP-ChIP_MESCs_Mouse1.40069497
52FOXP3_21729870_ChIP-Seq_TREG_Human1.36705812
53RUNX1_22412390_ChIP-Seq_EML_Mouse1.36143202
54SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35731814
55GATA1_19941827_ChIP-Seq_MEL_Mouse1.35166967
56KDM5A_27292631_Chip-Seq_BREAST_Human1.34555836
57SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.34376643
58E2F1_20622854_ChIP-Seq_HELA_Human1.34253991
59YY1_22570637_ChIP-Seq_MALME-3M_Human1.34085394
60SPI1_20517297_ChIP-Seq_HL60_Human1.29642766
61ETV2_25802403_ChIP-Seq_MESCs_Mouse1.28135795
62CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.27773645
63* P68_20966046_ChIP-Seq_HELA_Human1.26155309
64GATA2_22383799_ChIP-Seq_G1ME_Mouse1.25481973
65SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23702860
66SPI1_23127762_ChIP-Seq_K562_Human1.20829020
67GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.20571505
68CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19514204
69VDR_24787735_ChIP-Seq_THP-1_Human1.19069557
70BCOR_27268052_Chip-Seq_Bcells_Human1.18754948
71ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.18706288
72RAC3_21632823_ChIP-Seq_H3396_Human1.18099493
73GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17749052
74IRF8_21731497_ChIP-ChIP_J774_Mouse1.17405074
75RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.15693518
76CTCF_21964334_ChIP-Seq_BJAB-B_Human1.14590782
77CTCF_26484167_Chip-Seq_Bcells_Mouse1.13230014
78BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.12136344
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.10874528
80P300_27268052_Chip-Seq_Bcells_Human1.10595622
81PHF8_20622854_ChIP-Seq_HELA_Human1.10409229
82MYC_18555785_ChIP-Seq_MESCs_Mouse1.09956430
83CIITA_25753668_ChIP-Seq_RAJI_Human1.09248376
84GABP_19822575_ChIP-Seq_HepG2_Human1.08610030
85GATA1_22383799_ChIP-Seq_G1ME_Mouse1.08349444
86AUTS2_25519132_ChIP-Seq_293T-REX_Human1.08289432
87ETS1_22383799_ChIP-Seq_G1ME_Mouse1.06658282
88ETS1_20019798_ChIP-Seq_JURKAT_Human1.05497419
89FOXP1_21924763_ChIP-Seq_HESCs_Human1.05186532
90PU.1_20513432_ChIP-Seq_Bcells_Mouse1.03205165
91PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01088794
92SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.00654092
93SRF_21415370_ChIP-Seq_HL-1_Mouse1.00244734
94VDR_23849224_ChIP-Seq_CD4+_Human0.99079676
95SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.99043168
96KDM2B_26808549_Chip-Seq_DND41_Human0.98877374
97FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98543341
98CTCF_21964334_Chip-Seq_Bcells_Human0.97656931
99CTCF_27219007_Chip-Seq_ERYTHROID_Human0.95722123
100RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94806332

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract6.64143408
2MP0003303_peritoneal_inflammation4.74218917
3MP0008961_abnormal_basal_metabolism3.08324038
4MP0003123_paternal_imprinting2.93575581
5MP0002419_abnormal_innate_immunity2.90155625
6MP0008058_abnormal_DNA_repair2.89725843
7MP0008057_abnormal_DNA_replication2.86836602
8MP0003172_abnormal_lysosome_physiology2.65669316
9MP0000569_abnormal_digit_pigmentation2.64500782
10MP0004147_increased_porphyrin_level2.54446502
11MP0005025_abnormal_response_to2.48208816
12MP0005174_abnormal_tail_pigmentation2.44718529
13MP0001545_abnormal_hematopoietic_system2.32328497
14MP0005397_hematopoietic_system_phenotyp2.32328497
15MP0009278_abnormal_bone_marrow2.31332514
16MP0005075_abnormal_melanosome_morpholog2.30765196
17MP0009785_altered_susceptibility_to2.18890542
18MP0000015_abnormal_ear_pigmentation2.17171789
19MP0005670_abnormal_white_adipose2.06020349
20MP0005464_abnormal_platelet_physiology2.00017935
21MP0003252_abnormal_bile_duct1.99636520
22MP0005365_abnormal_bile_salt1.97795463
23MP0003436_decreased_susceptibility_to1.89982900
24MP0009379_abnormal_foot_pigmentation1.89780382
25MP0005058_abnormal_lysosome_morphology1.73684932
26MP0002420_abnormal_adaptive_immunity1.71164626
27MP0004043_abnormal_pH_regulation1.67711921
28MP0001819_abnormal_immune_cell1.66714864
29MP0005085_abnormal_gallbladder_physiolo1.59260709
30MP0002095_abnormal_skin_pigmentation1.52450155
31MP0008877_abnormal_DNA_methylation1.49115230
32MP0001986_abnormal_taste_sensitivity1.48307194
33MP0001835_abnormal_antigen_presentation1.47939613
34MP0004742_abnormal_vestibular_system1.45804404
35MP0004185_abnormal_adipocyte_glucose1.44672101
36MP0008007_abnormal_cellular_replicative1.38642914
37MP0004808_abnormal_hematopoietic_stem1.36867127
38MP0003786_premature_aging1.36024390
39MP0005266_abnormal_metabolism1.34464292
40MP0010094_abnormal_chromosome_stability1.33761322
41MP0000003_abnormal_adipose_tissue1.32572439
42MP0005076_abnormal_cell_differentiation1.31630859
43MP0003656_abnormal_erythrocyte_physiolo1.29600713
44MP0006036_abnormal_mitochondrial_physio1.27149912
45MP0005375_adipose_tissue_phenotype1.27085828
46MP0005000_abnormal_immune_tolerance1.27011261
47MP0002398_abnormal_bone_marrow1.24537559
48MP0005666_abnormal_adipose_tissue1.24442990
49MP0001845_abnormal_inflammatory_respons1.23612435
50MP0001800_abnormal_humoral_immune1.23552294
51MP0002722_abnormal_immune_system1.23358325
52MP0008995_early_reproductive_senescence1.22018623
53MP0010329_abnormal_lipoprotein_level1.21705026
54MP0004130_abnormal_muscle_cell1.21147242
55MP0002452_abnormal_antigen_presenting1.20540160
56MP0000716_abnormal_immune_system1.19416864
57MP0001853_heart_inflammation1.17018334
58MP0002396_abnormal_hematopoietic_system1.16036059
59MP0009115_abnormal_fat_cell1.13997426
60MP0005164_abnormal_response_to1.09436856
61MP0005451_abnormal_body_composition1.08855247
62MP0002405_respiratory_system_inflammati1.07272741
63MP0005377_hearing/vestibular/ear_phenot1.06288740
64MP0003878_abnormal_ear_physiology1.06288740
65MP0004782_abnormal_surfactant_physiolog1.05022482
66MP0002429_abnormal_blood_cell1.04891920
67MP0002723_abnormal_immune_serum1.03405166
68MP0001533_abnormal_skeleton_physiology1.01071935
69MP0005220_abnormal_exocrine_pancreas1.00349458
70MP0008873_increased_physiological_sensi1.00177059
71MP0005334_abnormal_fat_pad0.99730333
72MP0003121_genomic_imprinting0.98827945
73MP0002971_abnormal_brown_adipose0.98196457
74MP0002970_abnormal_white_adipose0.95725930
75MP0002019_abnormal_tumor_incidence0.92217491
76MP0003638_abnormal_response/metabolism_0.89278079
77MP0000689_abnormal_spleen_morphology0.89083052
78MP0008874_decreased_physiological_sensi0.87004695
79MP0002160_abnormal_reproductive_system0.86980980
80MP0001851_eye_inflammation0.86131171
81MP0003763_abnormal_thymus_physiology0.81519008
82MP0009672_abnormal_birth_weight0.80426623
83MP0000703_abnormal_thymus_morphology0.76313425
84MP0009764_decreased_sensitivity_to0.75536165
85MP0004381_abnormal_hair_follicle0.74809647
86MP0002148_abnormal_hypersensitivity_rea0.71654540
87MP0009643_abnormal_urine_homeostasis0.71137182
88MP0009763_increased_sensitivity_to0.70630667
89MP0000598_abnormal_liver_morphology0.70326082
90MP0001663_abnormal_digestive_system0.69870339
91MP0008469_abnormal_protein_level0.69374375
92MP0000372_irregular_coat_pigmentation0.68209260
93MP0005376_homeostasis/metabolism_phenot0.67406038
94MP0003828_pulmonary_edema0.67158424
95MP0005360_urolithiasis0.64402532
96MP0008872_abnormal_physiological_respon0.63804055
97MP0005167_abnormal_blood-brain_barrier0.63641469
98MP0003195_calcinosis0.63451196
99MP0002118_abnormal_lipid_homeostasis0.59795961
100MP0009765_abnormal_xenobiotic_induced0.58876942

Predicted human phenotypes

RankGene SetZ-score
1Periodontitis (HP:0000704)6.18282661
2Abnormality of the prostate (HP:0008775)6.14311006
3Granulocytopenia (HP:0001913)5.78280927
4Eosinophilia (HP:0001880)5.67636108
5Ureteral stenosis (HP:0000071)5.33339740
6Obstructive lung disease (HP:0006536)5.11093353
7Chronic obstructive pulmonary disease (HP:0006510)5.11093353
8Ureteral obstruction (HP:0006000)4.91703253
9Chest pain (HP:0100749)4.44734296
10Abnormality of eosinophils (HP:0001879)4.27416924
11Abnormality of male internal genitalia (HP:0000022)3.57279388
12Hemoptysis (HP:0002105)3.49546604
13Elevated erythrocyte sedimentation rate (HP:0003565)3.49244045
14Hypergammaglobulinemia (HP:0010702)3.37564728
15Pulmonary fibrosis (HP:0002206)3.32811325
16Leukocytosis (HP:0001974)3.31986447
17Meningitis (HP:0001287)3.22140851
18Pulmonary infiltrates (HP:0002113)3.15783630
19Recurrent bacterial skin infections (HP:0005406)3.08916936
20Gangrene (HP:0100758)3.07523695
21Increased neuronal autofluorescent lipopigment (HP:0002074)3.02797170
22Thrombophlebitis (HP:0004418)3.02174084
23Chromosomal breakage induced by crosslinking agents (HP:0003221)2.96465548
24Skin rash (HP:0000988)2.94340769
25Increased muscle lipid content (HP:0009058)2.88793772
26Acute lymphatic leukemia (HP:0006721)2.86690284
27Lipid accumulation in hepatocytes (HP:0006561)2.83154253
28Abnormality of the heme biosynthetic pathway (HP:0010472)2.81321420
29Epistaxis (HP:0000421)2.76250863
30Pulmonary embolism (HP:0002204)2.72383905
31Sepsis (HP:0100806)2.69469681
32Loss of speech (HP:0002371)2.69431117
33Recurrent abscess formation (HP:0002722)2.67900512
34Abnormality of the pleura (HP:0002103)2.66758286
35Abnormality of the pericardium (HP:0001697)2.62047741
36Chromsome breakage (HP:0040012)2.60097327
37Agammaglobulinemia (HP:0004432)2.59428190
38Myositis (HP:0100614)2.56434530
39Abnormality of B cell number (HP:0010975)2.54385430
40Increased cerebral lipofuscin (HP:0011813)2.51699987
41Acute myeloid leukemia (HP:0004808)2.49786558
42Increased intramyocellular lipid droplets (HP:0012240)2.49729861
43Increased hepatocellular lipid droplets (HP:0006565)2.49572140
44Renal Fanconi syndrome (HP:0001994)2.48743231
45Recurrent gram-negative bacterial infections (HP:0005420)2.48457573
46Reticulocytopenia (HP:0001896)2.47144424
47B lymphocytopenia (HP:0010976)2.46134257
48Hepatosplenomegaly (HP:0001433)2.39851365
49Cutaneous photosensitivity (HP:0000992)2.39385262
50Generalized hyperpigmentation (HP:0007440)2.36305524
51Skin ulcer (HP:0200042)2.35794376
52Neutropenia (HP:0001875)2.34793099
53Genetic anticipation (HP:0003743)2.34133279
54Polyneuropathy (HP:0001271)2.34086797
55Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.33536293
56Vasculitis (HP:0002633)2.32805339
57Dysostosis multiplex (HP:0000943)2.32641250
58Type I transferrin isoform profile (HP:0003642)2.32221509
59Progressive microcephaly (HP:0000253)2.30908894
60Restrictive lung disease (HP:0002091)2.28640965
61Abdominal pain (HP:0002027)2.26434322
62Congenital stationary night blindness (HP:0007642)2.23834159
63Glomerulopathy (HP:0100820)2.22647123
64Pigmentary retinal degeneration (HP:0001146)2.17668314
65Absent speech (HP:0001344)2.16641504
66Visual hallucinations (HP:0002367)2.14097537
67Exertional dyspnea (HP:0002875)2.13152753
68Asymmetric septal hypertrophy (HP:0001670)2.12177471
69Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.11569112
70Hypochromic microcytic anemia (HP:0004840)2.10925241
71Clumsiness (HP:0002312)2.10276799
72Recurrent fungal infections (HP:0002841)2.08603151
73Abnormal number of erythroid precursors (HP:0012131)2.08321080
74Paresthesia (HP:0003401)2.07738254
75Abnormality of cells of the erythroid lineage (HP:0012130)2.03906046
76Pancreatitis (HP:0001733)2.03546046
77Ureteral duplication (HP:0000073)2.01461000
78Thrombocytosis (HP:0001894)10.2864813
79Recurrent cutaneous fungal infections (HP:0011370)1.99327116
80Chronic mucocutaneous candidiasis (HP:0002728)1.99327116
81Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.97040187
82Recurrent skin infections (HP:0001581)1.95520354
83Periorbital edema (HP:0100539)1.92610584
84Abnormality of renal resorption (HP:0011038)1.86418474
85Fair hair (HP:0002286)1.84903852
86Abnormality of polysaccharide metabolism (HP:0011012)1.83977323
87Abnormality of glycosaminoglycan metabolism (HP:0004371)1.83977323
88Abnormality of mucopolysaccharide metabolism (HP:0011020)1.83977323
89Facial edema (HP:0000282)1.83505060
90Abnormal delayed hypersensitivity skin test (HP:0002963)1.81751703
91Flat occiput (HP:0005469)1.75989501
92Mediastinal lymphadenopathy (HP:0100721)1.73756550
93Hypochromic anemia (HP:0001931)1.73593913
94Porencephaly (HP:0002132)1.71365581
95Bone marrow hypocellularity (HP:0005528)1.70987245
96Pallor (HP:0000980)1.70939721
97Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.70928789
98Abnormal protein N-linked glycosylation (HP:0012347)1.70928789
99Abnormal protein glycosylation (HP:0012346)1.70928789
100Abnormal glycosylation (HP:0012345)1.70928789

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CCNB15.66067245
2NEK25.30166453
3ERN15.15260633
4TESK25.11758513
5VRK23.80685943
6CAMK1D2.67088793
7CAMKK22.59455121
8NUAK12.28358517
9SMG11.94291837
10KIT1.94164744
11RIPK41.93224563
12MAP2K31.83253926
13TAF11.71910398
14TNK21.69829320
15CAMK1G1.62009096
16PIK3CG1.60842527
17LRRK21.55243852
18IRAK31.43534527
19MAP4K11.40411593
20CDK121.38557627
21FES1.34068082
22SYK1.31623406
23MAPK41.23004166
24TEC1.20904859
25TBK11.17102160
26CDK31.09858481
27KDR1.09840844
28TYK21.07323041
29VRK11.05321643
30GRK61.04116028
31HIPK21.01223933
32ABL20.98492210
33GRK50.97246174
34MAP3K70.96882779
35ICK0.96793089
36ZAP700.95696693
37GRK70.95294774
38CAMK10.93085597
39RPS6KB20.91531155
40PIM20.81927628
41TXK0.79742056
42BCKDK0.78944445
43IKBKE0.78254163
44CHUK0.75330624
45TAOK30.74408180
46CDK60.68365145
47ATR0.67589252
48MAP3K110.67186732
49BTK0.66952549
50CAMKK10.64991887
51PTK2B0.63928602
52CHEK20.61578398
53MARK20.60690850
54FLT30.60285768
55TGFBR20.60157363
56RPS6KA40.59711686
57MAP2K60.58657177
58HCK0.58631660
59IKBKB0.57744486
60LYN0.57098801
61ARAF0.54495338
62PIK3CA0.54280388
63CSF1R0.53344669
64MAP4K20.51356083
65MOS0.50165254
66LCK0.49844282
67PRKAA20.49557061
68RPS6KA60.47358460
69MATK0.47098210
70SCYL20.46231662
71CDK40.45861294
72RPS6KC10.45313280
73RPS6KL10.45313280
74IRAK40.44357752
75LATS10.43286374
76PRPF4B0.43255952
77MAPKAPK50.43083820
78BMPR20.40474146
79TESK10.38441733
80MAP3K60.36977320
81PAK20.36380204
82CDK90.33856099
83PRKCQ0.32751607
84CHEK10.31823327
85ADRBK10.31531592
86DYRK20.31367928
87AKT10.30440395
88NME20.30327148
89PDPK10.29337001
90CAMK40.27876831
91EIF2AK20.27586922
92PDK10.27132749
93CDC70.26261974
94WNK40.26205152
95INSRR0.25398256
96TRIB30.25082225
97IRAK20.23046928
98YES10.22973577
99MAPK110.22754575
100TAOK10.21970309

Predicted pathways (KEGG)

RankGene SetZ-score
1Renin-angiotensin system_Homo sapiens_hsa046144.82022120
2Base excision repair_Homo sapiens_hsa034103.94386921
3Ribosome_Homo sapiens_hsa030103.56734391
4DNA replication_Homo sapiens_hsa030303.49309520
5Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.93731619
6Asthma_Homo sapiens_hsa053102.73443956
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.60408591
8Transcriptional misregulation in cancer_Homo sapiens_hsa052022.54628165
9Other glycan degradation_Homo sapiens_hsa005112.52233394
10Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.33958856
11Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.05453330
12Fanconi anemia pathway_Homo sapiens_hsa034601.92964935
13Homologous recombination_Homo sapiens_hsa034401.78892258
14Systemic lupus erythematosus_Homo sapiens_hsa053221.63227878
15Lysosome_Homo sapiens_hsa041421.61062293
16Oxidative phosphorylation_Homo sapiens_hsa001901.58681520
17Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.55040203
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.54520594
19Nucleotide excision repair_Homo sapiens_hsa034201.53948575
20Non-homologous end-joining_Homo sapiens_hsa034501.53075149
21Acute myeloid leukemia_Homo sapiens_hsa052211.50172072
22Staphylococcus aureus infection_Homo sapiens_hsa051501.49294917
23Ether lipid metabolism_Homo sapiens_hsa005651.46958555
24Pyrimidine metabolism_Homo sapiens_hsa002401.46732359
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.32915371
26Primary immunodeficiency_Homo sapiens_hsa053401.29887747
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.20489057
28Parkinsons disease_Homo sapiens_hsa050121.12914855
29Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.10796445
30Amoebiasis_Homo sapiens_hsa051461.09566334
31Basal transcription factors_Homo sapiens_hsa030221.08563708
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.08515763
33Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.07509022
34Malaria_Homo sapiens_hsa051441.04440069
35Osteoclast differentiation_Homo sapiens_hsa043801.01142689
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.00001715
37Glycerophospholipid metabolism_Homo sapiens_hsa005640.99119060
38Hematopoietic cell lineage_Homo sapiens_hsa046400.97525897
39Phagosome_Homo sapiens_hsa041450.97217382
40Carbohydrate digestion and absorption_Homo sapiens_hsa049730.95024546
41Mismatch repair_Homo sapiens_hsa034300.93991229
42Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91308099
43Leishmaniasis_Homo sapiens_hsa051400.90867085
44Cyanoamino acid metabolism_Homo sapiens_hsa004600.89542656
45Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.89408070
46African trypanosomiasis_Homo sapiens_hsa051430.87706372
47Platelet activation_Homo sapiens_hsa046110.86878619
48Regulation of autophagy_Homo sapiens_hsa041400.86355230
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86022237
50Glycerolipid metabolism_Homo sapiens_hsa005610.83328772
51B cell receptor signaling pathway_Homo sapiens_hsa046620.82129719
52Tryptophan metabolism_Homo sapiens_hsa003800.81470999
53Intestinal immune network for IgA production_Homo sapiens_hsa046720.80143075
54RNA polymerase_Homo sapiens_hsa030200.71762514
55Caffeine metabolism_Homo sapiens_hsa002320.70583301
56Huntingtons disease_Homo sapiens_hsa050160.66485337
57NOD-like receptor signaling pathway_Homo sapiens_hsa046210.65404969
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64312512
59Non-small cell lung cancer_Homo sapiens_hsa052230.61310789
60Rheumatoid arthritis_Homo sapiens_hsa053230.60446499
61Peroxisome_Homo sapiens_hsa041460.60121002
62Tuberculosis_Homo sapiens_hsa051520.58136778
63Lysine degradation_Homo sapiens_hsa003100.58064808
64Nitrogen metabolism_Homo sapiens_hsa009100.56562426
65Steroid hormone biosynthesis_Homo sapiens_hsa001400.56426426
66mTOR signaling pathway_Homo sapiens_hsa041500.56148661
67Phototransduction_Homo sapiens_hsa047440.54901296
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53698437
69Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.51836109
70Alzheimers disease_Homo sapiens_hsa050100.50705784
71Toll-like receptor signaling pathway_Homo sapiens_hsa046200.48744105
72Linoleic acid metabolism_Homo sapiens_hsa005910.47729852
73Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.47287265
74Purine metabolism_Homo sapiens_hsa002300.45244653
75Pentose phosphate pathway_Homo sapiens_hsa000300.44011885
76Drug metabolism - other enzymes_Homo sapiens_hsa009830.43362569
77Metabolic pathways_Homo sapiens_hsa011000.42510788
78Influenza A_Homo sapiens_hsa051640.42285188
79Cardiac muscle contraction_Homo sapiens_hsa042600.41398863
80Spliceosome_Homo sapiens_hsa030400.39355912
81Starch and sucrose metabolism_Homo sapiens_hsa005000.39231307
82Melanoma_Homo sapiens_hsa052180.38034290
83Fatty acid degradation_Homo sapiens_hsa000710.36464080
84T cell receptor signaling pathway_Homo sapiens_hsa046600.36203337
85Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.35897004
86Epstein-Barr virus infection_Homo sapiens_hsa051690.35334483
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.34300761
88VEGF signaling pathway_Homo sapiens_hsa043700.34248044
89Jak-STAT signaling pathway_Homo sapiens_hsa046300.32542637
90Phenylalanine metabolism_Homo sapiens_hsa003600.32078142
91Antigen processing and presentation_Homo sapiens_hsa046120.30497556
92Pyruvate metabolism_Homo sapiens_hsa006200.30454636
93Hepatitis C_Homo sapiens_hsa051600.29745177
94Pancreatic secretion_Homo sapiens_hsa049720.29530239
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.28895729
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28365828
97Synaptic vesicle cycle_Homo sapiens_hsa047210.26620273
98Allograft rejection_Homo sapiens_hsa053300.26036177
99Autoimmune thyroid disease_Homo sapiens_hsa053200.24985320
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.23823677

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