APOL1

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 secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.37910191
2response to type I interferon (GO:0034340)4.31736099
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.28112489
4type I interferon signaling pathway (GO:0060337)4.22859786
5cellular response to type I interferon (GO:0071357)4.22859786
6complement activation, classical pathway (GO:0006958)4.06125067
7antigen processing and presentation of endogenous antigen (GO:0019883)3.96663298
8regulation of protein activation cascade (GO:2000257)3.83772139
9regulation of complement activation (GO:0030449)3.82142632
10complement activation, alternative pathway (GO:0006957)3.67990777
11complement activation (GO:0006956)3.59166204
12negative regulation of fibrinolysis (GO:0051918)3.54482367
13acute-phase response (GO:0006953)3.39049230
14protein activation cascade (GO:0072376)3.38289155
15antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.37476236
16regulation of fibrinolysis (GO:0051917)3.27311040
17negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.14328506
18negative regulation of cell killing (GO:0031342)3.14328506
19interferon-gamma-mediated signaling pathway (GO:0060333)3.13855950
20response to interferon-beta (GO:0035456)3.05410317
21myeloid dendritic cell differentiation (GO:0043011)3.02099130
22T-helper 1 type immune response (GO:0042088)2.98861243
23negative regulation of protein activation cascade (GO:2000258)2.93240816
24immunoglobulin mediated immune response (GO:0016064)2.92102793
25negative regulation of viral genome replication (GO:0045071)2.91103529
26regulation of humoral immune response (GO:0002920)2.90823692
27exogenous drug catabolic process (GO:0042738)2.87703282
28fibrinolysis (GO:0042730)2.83850735
29regulation of interferon-alpha production (GO:0032647)2.83354771
30regulation of apoptotic cell clearance (GO:2000425)2.82762862
31detection of bacterium (GO:0016045)2.82274086
32detection of other organism (GO:0098543)2.80377538
33negative regulation of cytokine production involved in immune response (GO:0002719)2.79398060
34negative regulation of complement activation (GO:0045916)2.78295755
35germinal center formation (GO:0002467)2.75654620
36regulation of dendritic cell antigen processing and presentation (GO:0002604)2.75138359
37response to protozoan (GO:0001562)2.72290223
38defense response to protozoan (GO:0042832)2.71881834
39positive regulation of interferon-alpha production (GO:0032727)2.71623418
40regulation of interferon-beta biosynthetic process (GO:0045357)2.71431012
41drug catabolic process (GO:0042737)2.70362629
42protein carboxylation (GO:0018214)2.69350590
43peptidyl-glutamic acid carboxylation (GO:0017187)2.69350590
44regulation of apoptotic process involved in morphogenesis (GO:1902337)2.68997719
45L-phenylalanine catabolic process (GO:0006559)2.67575502
46erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.67575502
47response to interferon-alpha (GO:0035455)2.66529243
48acute inflammatory response (GO:0002526)2.65230377
49modulation by symbiont of host immune response (GO:0052553)2.64598380
50positive regulation by symbiont of host defense response (GO:0052509)2.64598380
51modulation by symbiont of host defense response (GO:0052031)2.64598380
52modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.64598380
53modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.64598380
54positive regulation by organism of defense response of other organism involved in symbiotic interact2.64598380
55regulation of T cell tolerance induction (GO:0002664)2.64540338
56interferon-gamma secretion (GO:0072643)2.63371329
57regulation of T-helper 1 cell differentiation (GO:0045625)2.61358152
58low-density lipoprotein particle remodeling (GO:0034374)2.61268200
59macrophage activation involved in immune response (GO:0002281)2.60824539
60negative regulation of humoral immune response (GO:0002921)2.60778981
61ethanol oxidation (GO:0006069)2.60753261
62regulation of cytokine secretion involved in immune response (GO:0002739)2.60583374
63epoxygenase P450 pathway (GO:0019373)2.60396557
64NIK/NF-kappaB signaling (GO:0038061)2.59988622
65erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.58238789
66L-phenylalanine metabolic process (GO:0006558)2.58238789
67positive regulation of Cdc42 GTPase activity (GO:0043089)2.57857994
68very-low-density lipoprotein particle assembly (GO:0034379)2.55535112
69cellular glucuronidation (GO:0052695)2.55402982
70hydrogen peroxide biosynthetic process (GO:0050665)2.54686169
71positive regulation of type 2 immune response (GO:0002830)2.53779243
72cholesterol efflux (GO:0033344)2.53569558
73negative regulation of innate immune response (GO:0045824)2.52781264
74detection of external biotic stimulus (GO:0098581)2.51880454
75response to peptidoglycan (GO:0032494)2.50295211
76cellular response to interferon-gamma (GO:0071346)2.49543826
77uronic acid metabolic process (GO:0006063)2.48954052
78glucuronate metabolic process (GO:0019585)2.48954052
79* lipoprotein metabolic process (GO:0042157)2.48946850
80peptide catabolic process (GO:0043171)2.48537724
81plasma lipoprotein particle assembly (GO:0034377)2.48043761
82negative regulation of blood coagulation (GO:0030195)2.47559693
83negative regulation of hemostasis (GO:1900047)2.47559693
84positive regulation of extracellular matrix organization (GO:1903055)2.47543663
85response to interferon-gamma (GO:0034341)2.47505452
86myeloid dendritic cell activation (GO:0001773)2.47228120
87regulation of regulatory T cell differentiation (GO:0045589)2.47029614
88plasma lipoprotein particle remodeling (GO:0034369)2.46798043
89protein-lipid complex remodeling (GO:0034368)2.46798043
90macromolecular complex remodeling (GO:0034367)2.46798043
91cellular response to exogenous dsRNA (GO:0071360)2.45412158
92phospholipid efflux (GO:0033700)2.45172193
93positive regulation of antigen processing and presentation (GO:0002579)2.44051107
94regulation of antigen processing and presentation (GO:0002577)2.42697861
95lipopolysaccharide-mediated signaling pathway (GO:0031663)2.42375879
96regulation of tolerance induction (GO:0002643)2.41239300
97regulation of hypersensitivity (GO:0002883)2.41109006
98negative regulation of viral entry into host cell (GO:0046597)2.40885407
99positive regulation of tolerance induction (GO:0002645)2.40397996
100negative regulation of cholesterol transport (GO:0032375)2.40217816

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human5.71152283
2* IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.47750014
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.75203440
4RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.40141335
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.39725165
6RXR_22158963_ChIP-Seq_LIVER_Mouse2.78277893
7IRF8_21731497_ChIP-ChIP_J774_Mouse2.72756898
8BP1_19119308_ChIP-ChIP_Hs578T_Human2.63120467
9PPARA_22158963_ChIP-Seq_LIVER_Mouse2.59968384
10LXR_22158963_ChIP-Seq_LIVER_Mouse2.35031058
11EGR1_23403033_ChIP-Seq_LIVER_Mouse2.16057248
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.14026676
13NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.13722590
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.09734072
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.07965486
16IRF8_27001747_Chip-Seq_BMDM_Mouse2.03382897
17TRIM28_21343339_ChIP-Seq_HEK293_Human1.99128566
18IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.96342734
19FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.95233603
20FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.93871495
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.92007459
22CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.90446885
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.89396346
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.86822518
25STAT4_19710469_ChIP-ChIP_TH1__Mouse1.84931718
26STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.75371119
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.73233075
28NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.71480294
29NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.70981126
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.64691631
31TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.62293690
32TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.58147574
33LXR_22292898_ChIP-Seq_THP-1_Human1.57624428
34CDX2_20551321_ChIP-Seq_CACO-2_Human1.57487749
35GATA2_21666600_ChIP-Seq_HMVEC_Human1.53001345
36* SOX2_20726797_ChIP-Seq_SW620_Human1.52160198
37MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.50492034
38RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.48974614
39STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.47090011
40E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.45991017
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42222367
42Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.39400609
43P63_26484246_Chip-Seq_KERATINOCYTES_Human1.34415218
44MYB_21317192_ChIP-Seq_ERMYB_Mouse1.29343552
45ELK3_25401928_ChIP-Seq_HUVEC_Human1.27951889
46SOX2_27498859_Chip-Seq_STOMACH_Mouse1.27558244
47VDR_24763502_ChIP-Seq_THP-1_Human1.25470067
48RACK7_27058665_Chip-Seq_MCF-7_Human1.23775744
49MAF_26560356_Chip-Seq_TH1_Human1.22058944
50FOXO3_23340844_ChIP-Seq_DLD1_Human1.21815508
51CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.21528527
52RUNX_20019798_ChIP-Seq_JUKART_Human1.21170744
53FOXA2_19822575_ChIP-Seq_HepG2_Human1.20849315
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.18371266
55KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.17173090
56KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.16600234
57GATA4_25053715_ChIP-Seq_YYC3_Human1.15433670
58SPI1_23127762_ChIP-Seq_K562_Human1.15148642
59CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13883163
60BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13820679
61GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.12444239
62BRD4_27068464_Chip-Seq_AML-cells_Mouse1.10851348
63VDR_24787735_ChIP-Seq_THP-1_Human1.10445082
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.10224617
65HIF1A_21447827_ChIP-Seq_MCF-7_Human1.10085600
66PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08155337
67GATA1_19941827_ChIP-Seq_MEL_Mouse1.07400513
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.06958640
69EGR1_19374776_ChIP-ChIP_THP-1_Human1.06895903
70* VDR_21846776_ChIP-Seq_THP-1_Human1.06201233
71TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04530273
72CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04472024
73BCL6_27268052_Chip-Seq_Bcells_Human1.04244698
74* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.03406473
75LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.03200730
76GATA1_19941826_ChIP-Seq_K562_Human1.02981540
77BCOR_27268052_Chip-Seq_Bcells_Human1.02934201
78LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02728460
79GATA6_25053715_ChIP-Seq_YYC3_Human1.02050899
80VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02049557
81RUNX1_22412390_ChIP-Seq_EML_Mouse1.01831278
82CLOCK_20551151_ChIP-Seq_293T_Human1.01245056
83SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.98591516
84CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97568344
85MYB_26560356_Chip-Seq_TH2_Human0.97022029
86SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.94562762
87MYB_26560356_Chip-Seq_TH1_Human0.94370142
88TCF7_22412390_ChIP-Seq_EML_Mouse0.92932119
89TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92181631
90JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91722754
91* HNF4A_19822575_ChIP-Seq_HepG2_Human0.91137968
92PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90436892
93SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.89813077
94SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.89813077
95JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89190709
96ESR1_20079471_ChIP-ChIP_T-47D_Human0.87664981
97PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87418396
98KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.87319876
99CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.85124722
100STAT1_20625510_ChIP-Seq_HELA_Human0.84862975

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system4.50436155
2MP0003724_increased_susceptibility_to3.39506978
3MP0003436_decreased_susceptibility_to3.02517254
4MP0003303_peritoneal_inflammation2.97377676
5MP0009785_altered_susceptibility_to2.95494839
6MP0005360_urolithiasis2.85235475
7MP0000685_abnormal_immune_system2.74326238
8MP0006082_CNS_inflammation2.65170437
9MP0001835_abnormal_antigen_presentation2.62569544
10MP0005365_abnormal_bile_salt2.52268364
11MP0005387_immune_system_phenotype2.49026261
12MP0001790_abnormal_immune_system2.49026261
13MP0002138_abnormal_hepatobiliary_system2.44439632
14MP0005025_abnormal_response_to2.36178818
15MP0003195_calcinosis2.26124223
16MP0005085_abnormal_gallbladder_physiolo2.21556169
17MP0002148_abnormal_hypersensitivity_rea2.20981661
18MP0003806_abnormal_nucleotide_metabolis2.18264573
19MP0009840_abnormal_foam_cell2.16643580
20MP0008875_abnormal_xenobiotic_pharmacok2.13129402
21MP0002419_abnormal_innate_immunity1.98116128
22MP0001800_abnormal_humoral_immune1.96137265
23MP0005671_abnormal_response_to1.92531269
24MP0005000_abnormal_immune_tolerance1.90699401
25MP0001533_abnormal_skeleton_physiology1.87258851
26MP0010155_abnormal_intestine_physiology1.82508326
27MP0003191_abnormal_cellular_cholesterol1.82078879
28MP0003300_gastrointestinal_ulcer1.82054527
29MP0005058_abnormal_lysosome_morphology1.79101914
30MP0005451_abnormal_body_composition1.78388498
31MP0004947_skin_inflammation1.78123531
32MP0002723_abnormal_immune_serum1.76041523
33MP0002452_abnormal_antigen_presenting1.70381516
34MP0003183_abnormal_peptide_metabolism1.69322235
35MP0003252_abnormal_bile_duct1.67727802
36MP0008469_abnormal_protein_level1.61646733
37MP0001845_abnormal_inflammatory_respons1.60104267
38MP0009333_abnormal_splenocyte_physiolog1.57699743
39MP0001666_abnormal_nutrient_absorption1.55248159
40MP0009764_decreased_sensitivity_to1.51306868
41MP0005164_abnormal_response_to1.43338063
42MP0001819_abnormal_immune_cell1.41391218
43MP0010329_abnormal_lipoprotein_level1.40204604
44MP0002420_abnormal_adaptive_immunity1.39510301
45MP0005464_abnormal_platelet_physiology1.37841944
46MP0003075_altered_response_to1.37458885
47MP0005023_abnormal_wound_healing1.35872125
48MP0000858_altered_metastatic_potential1.32515201
49MP0002933_joint_inflammation1.30859113
50MP0003453_abnormal_keratinocyte_physiol1.28821618
51MP0005166_decreased_susceptibility_to1.28336619
52MP0003172_abnormal_lysosome_physiology1.27552903
53MP0002405_respiratory_system_inflammati1.26954235
54MP0004019_abnormal_vitamin_homeostasis1.25768589
55MP0001873_stomach_inflammation1.20701477
56MP0004510_myositis1.20420529
57MP0003866_abnormal_defecation1.15069915
58MP0004883_abnormal_blood_vessel1.13434030
59MP0000609_abnormal_liver_physiology1.11200740
60MP0009643_abnormal_urine_homeostasis1.11178444
61MP0000604_amyloidosis1.10643303
62MP0002132_abnormal_respiratory_system1.10180859
63MP0003868_abnormal_feces_composition1.09302118
64MP0009763_increased_sensitivity_to1.09049757
65MP0005083_abnormal_biliary_tract1.04917198
66MP0002998_abnormal_bone_remodeling1.03919363
67MP0005332_abnormal_amino_acid1.03183952
68MP0000716_abnormal_immune_system1.01760155
69MP0002876_abnormal_thyroid_physiology1.00023498
70MP0002166_altered_tumor_susceptibility0.96239240
71MP0003045_fibrosis0.95058992
72MP0000249_abnormal_blood_vessel0.94347061
73MP0002118_abnormal_lipid_homeostasis0.93984786
74MP0005319_abnormal_enzyme/_coenzyme0.92819897
75MP0003656_abnormal_erythrocyte_physiolo0.92320526
76MP0002136_abnormal_kidney_physiology0.91640054
77MP0000343_altered_response_to0.91215278
78MP0001663_abnormal_digestive_system0.90179471
79MP0003448_altered_tumor_morphology0.89879972
80MP0005310_abnormal_salivary_gland0.89125502
81MP0006054_spinal_hemorrhage0.88644884
82MP0004264_abnormal_extraembryonic_tissu0.86146219
83MP0005167_abnormal_blood-brain_barrier0.85901725
84MP0002254_reproductive_system_inflammat0.84876174
85MP0008004_abnormal_stomach_pH0.84821028
86MP0004043_abnormal_pH_regulation0.84501865
87MP0001851_eye_inflammation0.84379173
88MP0010234_abnormal_vibrissa_follicle0.83576545
89MP0008260_abnormal_autophagy0.81479111
90MP0005390_skeleton_phenotype0.80560687
91MP0002398_abnormal_bone_marrow0.78895498
92MP0002429_abnormal_blood_cell0.78338460
93MP0005584_abnormal_enzyme/coenzyme_acti0.77880637
94MP0003950_abnormal_plasma_membrane0.77612818
95MP0003763_abnormal_thymus_physiology0.77314885
96MP0000465_gastrointestinal_hemorrhage0.77281209
97MP0003879_abnormal_hair_cell0.74234545
98MP0001853_heart_inflammation0.73112552
99MP0004858_abnormal_nervous_system0.69194277
100MP0003091_abnormal_cell_migration0.69120267

Predicted human phenotypes

RankGene SetZ-score
1Systemic lupus erythematosus (HP:0002725)5.68236445
2Complement deficiency (HP:0004431)5.38863723
3Deep venous thrombosis (HP:0002625)5.10217526
4Abnormality of complement system (HP:0005339)4.68242592
5Glomerulonephritis (HP:0000099)4.67196187
6Eczematoid dermatitis (HP:0000976)4.09895348
7Orchitis (HP:0100796)4.04076708
8Recurrent gram-negative bacterial infections (HP:0005420)4.03167399
9Abnormality of monocarboxylic acid metabolism (HP:0010996)3.99657882
10Retrobulbar optic neuritis (HP:0100654)3.83299993
11Optic neuritis (HP:0100653)3.83299993
12Myositis (HP:0100614)3.82610715
13Nephritis (HP:0000123)3.54447363
14Abnormality of macrophages (HP:0004311)3.50848292
15Abnormality of glycolipid metabolism (HP:0010969)3.41177630
16Abnormality of liposaccharide metabolism (HP:0010968)3.41177630
17Abnormality of glycosphingolipid metabolism (HP:0004343)3.41177630
18Prolonged partial thromboplastin time (HP:0003645)3.40161798
19Joint hemorrhage (HP:0005261)3.18500033
20Purpura (HP:0000979)3.15661944
21Malnutrition (HP:0004395)3.07883322
22Recurrent bacterial skin infections (HP:0005406)3.05654964
23Abnormality of aromatic amino acid family metabolism (HP:0004338)3.04500482
24Gastrointestinal infarctions (HP:0005244)2.90287810
25Hemorrhage of the eye (HP:0011885)2.87453168
26Recurrent abscess formation (HP:0002722)2.85755913
27Hypobetalipoproteinemia (HP:0003563)2.84414066
28Vasculitis (HP:0002633)2.75972825
29Xanthomatosis (HP:0000991)2.71797061
30Keratoconjunctivitis sicca (HP:0001097)2.70994964
31Pulmonary infiltrates (HP:0002113)2.69875121
32Abnormality of glutamine family amino acid metabolism (HP:0010902)2.69299731
33Gingival bleeding (HP:0000225)2.66585676
34Mediastinal lymphadenopathy (HP:0100721)2.62338763
35Interstitial pulmonary disease (HP:0006530)2.60980616
36Joint swelling (HP:0001386)2.59923282
37Elevated erythrocyte sedimentation rate (HP:0003565)2.57510456
38Abnormality of the common coagulation pathway (HP:0010990)2.52654415
39Dysostosis multiplex (HP:0000943)2.51666409
40Gangrene (HP:0100758)2.49983421
41Keratoconjunctivitis (HP:0001096)2.47481654
42Vascular calcification (HP:0004934)2.43696150
43Increased serum ferritin (HP:0003281)2.42599369
44Mucopolysacchariduria (HP:0008155)2.42353020
45Urinary glycosaminoglycan excretion (HP:0003541)2.42353020
46Abnormality of polysaccharide metabolism (HP:0011012)2.40437578
47Abnormality of glycosaminoglycan metabolism (HP:0004371)2.40437578
48Abnormality of mucopolysaccharide metabolism (HP:0011020)2.40437578
49Meningitis (HP:0001287)2.34148755
50Vacuolated lymphocytes (HP:0001922)2.33334169
51Hemoptysis (HP:0002105)2.32611777
52Gingivitis (HP:0000230)2.30059842
53Pulmonary embolism (HP:0002204)2.28773787
54Conjugated hyperbilirubinemia (HP:0002908)2.24423095
55Amyloidosis (HP:0011034)2.23240830
56Recurrent skin infections (HP:0001581)2.19999410
57Abnormality of iron homeostasis (HP:0011031)2.19356116
58Abnormality of the nasal mucosa (HP:0000433)2.19286268
59Increased IgM level (HP:0003496)2.18088167
60Recurrent bronchitis (HP:0002837)2.13717224
61Fat malabsorption (HP:0002630)2.13519344
62Intrahepatic cholestasis (HP:0001406)2.13285624
63Increased IgE level (HP:0003212)2.12755296
64Myocardial infarction (HP:0001658)2.12103758
65Nasal polyposis (HP:0100582)2.11561312
66Recurrent fungal infections (HP:0002841)2.11246478
67Abnormality of proline metabolism (HP:0010907)2.10723467
68Hydroxyprolinuria (HP:0003080)2.10723467
69Cardiovascular calcification (HP:0011915)2.08438658
70Stomatitis (HP:0010280)2.07397740
71Abnormality of the pleura (HP:0002103)2.03765507
72Arterial thrombosis (HP:0004420)2.01759819
73Pustule (HP:0200039)2.00031936
74Hypergammaglobulinemia (HP:0010702)1.98588774
75Chronic obstructive pulmonary disease (HP:0006510)1.98389953
76Obstructive lung disease (HP:0006536)1.98389953
77Abnormality of transition element cation homeostasis (HP:0011030)1.97942158
78Thrombophlebitis (HP:0004418)1.97078609
79Autoimmune thrombocytopenia (HP:0001973)1.95912816
80Urticaria (HP:0001025)1.95503528
81Menorrhagia (HP:0000132)1.95358639
82Emphysema (HP:0002097)1.95191801
83Chronic otitis media (HP:0000389)1.94538583
84Epistaxis (HP:0000421)1.94435490
85Abnormal delayed hypersensitivity skin test (HP:0002963)1.92768695
86Autoimmune hemolytic anemia (HP:0001890)1.91734214
87Cheilitis (HP:0100825)1.89570033
88Anorexia (HP:0002039)1.87110568
89Hyperlipoproteinemia (HP:0010980)1.86965366
90Loss of speech (HP:0002371)1.84201097
91Acne (HP:0001061)1.83838013
92Peritonitis (HP:0002586)1.82473638
93Alopecia of scalp (HP:0002293)1.81665293
94Encephalitis (HP:0002383)1.80936660
95Mitral stenosis (HP:0001718)1.80489037
96Conical tooth (HP:0000698)1.79922720
97Chronic diarrhea (HP:0002028)1.79734719
98Increased cerebral lipofuscin (HP:0011813)1.79714228
99Hypolipoproteinemia (HP:0010981)1.79474062
100Skin rash (HP:0000988)1.78086939

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.17742387
2FGFR43.34581276
3MST1R3.18982844
4TYK23.14033418
5EPHA23.03200970
6RIPK12.72442035
7MAP3K142.64059879
8TBK12.53240722
9IRAK32.44736594
10MAP4K12.43286311
11IKBKE2.28990443
12FGFR32.27444625
13MAP3K32.01049965
14IRAK41.97017172
15JAK31.93984363
16JAK11.90621318
17MAPKAPK31.79320075
18RIPK41.77843084
19BLK1.73813386
20EPHB11.73469185
21TRIB31.71472173
22EPHA31.63527311
23IKBKB1.60131864
24ZAP701.59996574
25MATK1.52700416
26CDC42BPA1.52472633
27KIT1.49173640
28CSK1.39003621
29TGFBR21.28873586
30DDR21.22259430
31SIK11.20801860
32MAP3K131.13981000
33TXK1.12605775
34CSF1R1.08747977
35IRAK11.06362358
36PRPF4B1.06141068
37MAP3K11.00766163
38PTK61.00316111
39MAP3K110.97744724
40GRK60.97004971
41MAP3K20.95969272
42MAP2K60.94087393
43SYK0.92988988
44JAK20.92797297
45TAOK30.92777375
46MET0.91740715
47GRK70.91440099
48MAP2K30.90456115
49FGR0.88051281
50PDPK10.86663067
51TAOK10.84387643
52PIK3CA0.84277074
53NME20.83685112
54STK240.83100827
55HIPK20.82752884
56LYN0.81332957
57CHUK0.79341230
58TAOK20.78540024
59LCK0.74356745
60BTK0.72766276
61MAPK110.71584528
62PDK10.70912152
63SIK20.67532675
64ADRBK20.67036830
65TLK10.65314975
66HCK0.64650206
67MAP3K60.59657461
68WNK40.57956244
69PDGFRA0.56807941
70BMPR20.56237722
71PRKG20.56214029
72MAPKAPK20.55973146
73PRKAA20.54603188
74MAP3K70.54105911
75SIK30.52368684
76PIM20.51008501
77FER0.47722894
78BMX0.47539208
79ITK0.47038400
80SMG10.46003764
81PRKCQ0.45930707
82IGF1R0.45327035
83TNK20.44313762
84PDGFRB0.44185880
85MELK0.43714554
86PRKD20.43530015
87MAPK150.42604197
88MAPK70.40890717
89TRPM70.38330169
90PRKCD0.38007369
91NLK0.37369859
92ERBB20.36843892
93RPS6KA60.34504200
94RPS6KL10.34255155
95RPS6KC10.34255155
96FES0.34096590
97PTK20.31859946
98EPHB20.30252108
99LMTK20.30090556
100MAP2K20.29983459

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046103.22250963
2Staphylococcus aureus infection_Homo sapiens_hsa051503.18476974
3Allograft rejection_Homo sapiens_hsa053302.30399003
4Cyanoamino acid metabolism_Homo sapiens_hsa004602.12248897
5Graft-versus-host disease_Homo sapiens_hsa053322.10860869
6Other glycan degradation_Homo sapiens_hsa005112.09626234
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.04661458
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.99520453
9Autoimmune thyroid disease_Homo sapiens_hsa053201.99472839
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.89394753
11Asthma_Homo sapiens_hsa053101.88280512
12Leishmaniasis_Homo sapiens_hsa051401.87522412
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.80235146
14Caffeine metabolism_Homo sapiens_hsa002321.79397515
15Pertussis_Homo sapiens_hsa051331.69368941
16Drug metabolism - other enzymes_Homo sapiens_hsa009831.67291980
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.66239721
18Pentose and glucuronate interconversions_Homo sapiens_hsa000401.65985865
19Arginine biosynthesis_Homo sapiens_hsa002201.58819639
20Primary bile acid biosynthesis_Homo sapiens_hsa001201.57778809
21Retinol metabolism_Homo sapiens_hsa008301.57255670
22Chemical carcinogenesis_Homo sapiens_hsa052041.57021826
23NF-kappa B signaling pathway_Homo sapiens_hsa040641.56829656
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.52747053
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.50743204
26Toll-like receptor signaling pathway_Homo sapiens_hsa046201.50422148
27Type I diabetes mellitus_Homo sapiens_hsa049401.50090416
28Osteoclast differentiation_Homo sapiens_hsa043801.45078177
29Histidine metabolism_Homo sapiens_hsa003401.42923759
30Glycosaminoglycan degradation_Homo sapiens_hsa005311.41811817
31Steroid hormone biosynthesis_Homo sapiens_hsa001401.38340010
32TNF signaling pathway_Homo sapiens_hsa046681.34605878
33Phenylalanine metabolism_Homo sapiens_hsa003601.32643127
34Starch and sucrose metabolism_Homo sapiens_hsa005001.28318826
35Influenza A_Homo sapiens_hsa051641.27947218
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.23800981
37Antigen processing and presentation_Homo sapiens_hsa046121.20894691
38Hepatitis C_Homo sapiens_hsa051601.20289524
39Toxoplasmosis_Homo sapiens_hsa051451.17194220
40Malaria_Homo sapiens_hsa051441.16314876
41Fatty acid degradation_Homo sapiens_hsa000711.16210126
42Fat digestion and absorption_Homo sapiens_hsa049751.12937720
43* African trypanosomiasis_Homo sapiens_hsa051431.09573238
44PPAR signaling pathway_Homo sapiens_hsa033201.08512487
45Fructose and mannose metabolism_Homo sapiens_hsa000511.07834280
46Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.06864503
47Tuberculosis_Homo sapiens_hsa051521.05941505
48Measles_Homo sapiens_hsa051621.04310637
49Rheumatoid arthritis_Homo sapiens_hsa053231.02734897
50Tyrosine metabolism_Homo sapiens_hsa003500.98976223
51NOD-like receptor signaling pathway_Homo sapiens_hsa046210.97679853
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96830093
53Tryptophan metabolism_Homo sapiens_hsa003800.96136062
54Herpes simplex infection_Homo sapiens_hsa051680.95571029
55Lysosome_Homo sapiens_hsa041420.94607408
56Arachidonic acid metabolism_Homo sapiens_hsa005900.93913849
57Galactose metabolism_Homo sapiens_hsa000520.93792811
58Primary immunodeficiency_Homo sapiens_hsa053400.91796212
59Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.91066471
60Linoleic acid metabolism_Homo sapiens_hsa005910.89739694
61Hematopoietic cell lineage_Homo sapiens_hsa046400.89322353
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.88420652
63Jak-STAT signaling pathway_Homo sapiens_hsa046300.87322106
64Prion diseases_Homo sapiens_hsa050200.83350487
65Viral myocarditis_Homo sapiens_hsa054160.82149974
66Sulfur metabolism_Homo sapiens_hsa009200.78136670
67Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.77997583
68Legionellosis_Homo sapiens_hsa051340.76052635
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.72738484
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.71393059
71Bile secretion_Homo sapiens_hsa049760.70994895
72B cell receptor signaling pathway_Homo sapiens_hsa046620.70920357
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.68590994
74Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65866507
75ABC transporters_Homo sapiens_hsa020100.65459861
76Phagosome_Homo sapiens_hsa041450.60355637
77Amoebiasis_Homo sapiens_hsa051460.59735136
78Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59432582
79Chemokine signaling pathway_Homo sapiens_hsa040620.59158146
80Renin-angiotensin system_Homo sapiens_hsa046140.58235512
81Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.57511290
82Sphingolipid metabolism_Homo sapiens_hsa006000.55793584
83Vitamin digestion and absorption_Homo sapiens_hsa049770.54185072
84Glycerolipid metabolism_Homo sapiens_hsa005610.53108143
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.53073242
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.49082560
87Apoptosis_Homo sapiens_hsa042100.47811697
88Salmonella infection_Homo sapiens_hsa051320.45890163
89Peroxisome_Homo sapiens_hsa041460.45083807
90Insulin resistance_Homo sapiens_hsa049310.45066191
91Arginine and proline metabolism_Homo sapiens_hsa003300.44948143
92Mineral absorption_Homo sapiens_hsa049780.44626085
93Hepatitis B_Homo sapiens_hsa051610.44350541
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.39925683
95Fatty acid biosynthesis_Homo sapiens_hsa000610.38206431
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.37567761
97Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.36719965
98Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.35115039
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34013017
100AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.33409081

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