CD68

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 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of immune response of other organism involved in symbiotic interaction (GO:008.01201012
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:08.01201012
3positive regulation by organism of defense response of other organism involved in symbiotic interact8.01201012
4modulation by symbiont of host immune response (GO:0052553)8.01201012
5positive regulation by symbiont of host defense response (GO:0052509)8.01201012
6modulation by symbiont of host defense response (GO:0052031)8.01201012
7regulation of interferon-beta biosynthetic process (GO:0045357)6.14722779
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.13380054
9neutrophil activation involved in immune response (GO:0002283)5.96041525
10macrophage activation involved in immune response (GO:0002281)5.90231002
11positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.45598356
12immunoglobulin mediated immune response (GO:0016064)5.12877006
13response to immune response of other organism involved in symbiotic interaction (GO:0052564)5.10829551
14response to host immune response (GO:0052572)5.10829551
15microglial cell activation (GO:0001774)5.02448748
16positive regulation of interferon-alpha production (GO:0032727)4.99797243
17response to peptidoglycan (GO:0032494)4.83304109
18regulation of interferon-alpha production (GO:0032647)4.81198697
19response to host (GO:0075136)4.59795904
20response to host defenses (GO:0052200)4.59795904
21response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.59795904
22respiratory burst (GO:0045730)4.45429484
23oligosaccharide catabolic process (GO:0009313)4.32779058
24macrophage activation (GO:0042116)4.32360072
25glycolipid catabolic process (GO:0019377)4.29155181
26regulation of B cell receptor signaling pathway (GO:0050855)4.26157565
27regulation of mononuclear cell migration (GO:0071675)4.24640325
28myeloid cell activation involved in immune response (GO:0002275)4.24576783
29positive regulation of antigen processing and presentation (GO:0002579)4.14192911
30regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.02702757
31granulocyte activation (GO:0036230)4.02149786
32positive regulation of mast cell activation (GO:0033005)3.92190850
33amino sugar catabolic process (GO:0046348)3.91992823
34lipopolysaccharide-mediated signaling pathway (GO:0031663)3.87774101
35regulation of interleukin-8 biosynthetic process (GO:0045414)3.85760480
36ceramide catabolic process (GO:0046514)3.79781462
37neutrophil activation (GO:0042119)3.77510650
38regulation of mast cell degranulation (GO:0043304)3.72538589
39B cell mediated immunity (GO:0019724)3.60007810
40positive regulation of chemokine biosynthetic process (GO:0045080)3.59444445
41negative regulation of mast cell activation (GO:0033004)3.59398463
42positive regulation of interferon-beta production (GO:0032728)3.58933215
43pinocytosis (GO:0006907)3.57035099
44positive regulation of mast cell activation involved in immune response (GO:0033008)3.56178210
45positive regulation of mast cell degranulation (GO:0043306)3.56178210
46regulation of mast cell activation involved in immune response (GO:0033006)3.51860172
47T-helper 1 type immune response (GO:0042088)3.51131665
48regulation of mast cell activation (GO:0033003)3.48527914
49regulation of antigen processing and presentation (GO:0002577)3.46605565
50regulation of vitamin D biosynthetic process (GO:0060556)3.46390631
51positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.46152461
52production of molecular mediator involved in inflammatory response (GO:0002532)3.45247878
53eosinophil chemotaxis (GO:0048245)3.43516669
54cellular response to thyroid hormone stimulus (GO:0097067)3.41436015
55detection of other organism (GO:0098543)3.40425695
56positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.34206650
57detection of molecule of bacterial origin (GO:0032490)3.33882354
58positive regulation of leukocyte degranulation (GO:0043302)3.33697859
59I-kappaB phosphorylation (GO:0007252)3.27780629
60response to muramyl dipeptide (GO:0032495)3.26172863
61regulation of podosome assembly (GO:0071801)3.25295067
62positive regulation of monocyte chemotaxis (GO:0090026)3.24708472
63regulation of leukocyte degranulation (GO:0043300)3.22487902
64hydrogen peroxide biosynthetic process (GO:0050665)3.21297680
65membrane lipid catabolic process (GO:0046466)3.17470847
66monocyte chemotaxis (GO:0002548)3.16659366
67positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.16069915
68regulation of macrophage chemotaxis (GO:0010758)3.13106233
69myeloid leukocyte activation (GO:0002274)3.13077235
70detection of bacterium (GO:0016045)3.13062705
71regulation of cholesterol storage (GO:0010885)3.12948044
72N-acetylneuraminate metabolic process (GO:0006054)3.12113007
73detection of external biotic stimulus (GO:0098581)3.12052896
74lymphocyte chemotaxis (GO:0048247)3.11953995
75positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.11656637
76negative regulation of cytokine production involved in immune response (GO:0002719)3.10398818
77regulation of dendritic cell antigen processing and presentation (GO:0002604)3.06536142
78sphingolipid catabolic process (GO:0030149)3.06429914
79negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.06262097
80negative regulation of erythrocyte differentiation (GO:0045647)3.05397253
81negative regulation of nitric oxide biosynthetic process (GO:0045019)3.04041731
82superoxide anion generation (GO:0042554)3.03942495
83hyaluronan catabolic process (GO:0030214)3.02012550
84eosinophil migration (GO:0072677)3.01731095
85positive regulation of toll-like receptor signaling pathway (GO:0034123)3.00478624
86germinal center formation (GO:0002467)2.99752744
87apoptotic cell clearance (GO:0043277)2.99642049
88regulation of myeloid leukocyte mediated immunity (GO:0002886)2.98800146
89cellular extravasation (GO:0045123)2.98452466
90NIK/NF-kappaB signaling (GO:0038061)2.97830706
91phagosome maturation (GO:0090382)2.96501238
92myeloid dendritic cell activation (GO:0001773)2.95830597
93negative regulation of interleukin-17 production (GO:0032700)2.95127564
94positive regulation of cellular amide metabolic process (GO:0034250)2.94069272
95neutrophil chemotaxis (GO:0030593)2.93560312
96regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.91761281
97regulation of cytokine secretion involved in immune response (GO:0002739)2.91578973
98positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.90283500
99negative regulation of interleukin-12 production (GO:0032695)2.90276391
100natural killer cell mediated immunity (GO:0002228)2.89583498
101natural killer cell mediated cytotoxicity (GO:0042267)2.89583498
102response to thyroid hormone (GO:0097066)2.88216140
103negative regulation of cell killing (GO:0031342)2.86709879
104negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.86709879
105neutrophil migration (GO:1990266)2.85015368
106interferon-gamma-mediated signaling pathway (GO:0060333)2.84593570
107positive regulation of gamma-delta T cell activation (GO:0046645)2.84309495
108reactive oxygen species biosynthetic process (GO:1903409)2.84254053
109positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.84009692
110myeloid dendritic cell differentiation (GO:0043011)2.83514822
111positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.83034570
112regulation of vitamin metabolic process (GO:0030656)2.82745523
113regulation of monocyte chemotaxis (GO:0090025)2.81691608
114type I interferon signaling pathway (GO:0060337)2.81225262
115cellular response to type I interferon (GO:0071357)2.81225262
116negative regulation of interleukin-6 production (GO:0032715)2.79733147
117glycosphingolipid catabolic process (GO:0046479)2.79610037
118barbed-end actin filament capping (GO:0051016)2.78754970
119positive regulation of lymphocyte migration (GO:2000403)2.77703136
120response to type I interferon (GO:0034340)2.77562994
121detection of biotic stimulus (GO:0009595)2.77232735
122positive regulation of chemokine production (GO:0032722)2.76864412
123neutrophil mediated immunity (GO:0002446)2.76290573
124regulation of gamma-delta T cell activation (GO:0046643)2.76132826
125positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.75871030
126positive regulation of heat generation (GO:0031652)2.75864968
127regulation of interferon-gamma biosynthetic process (GO:0045072)2.73833742
128lymphocyte mediated immunity (GO:0002449)2.73562904
129G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.71200992
130regulation of T-helper 2 cell differentiation (GO:0045628)2.71164554
131positive regulation of B cell differentiation (GO:0045579)2.71096463
132regulation of chemokine biosynthetic process (GO:0045073)2.71010728
133virion attachment to host cell (GO:0019062)2.70296726
134adhesion of symbiont to host cell (GO:0044650)2.70296726
135negative regulation of myeloid cell apoptotic process (GO:0033033)2.70195349
136regulation of T-helper 1 cell differentiation (GO:0045625)2.68415512
137regulation of T cell tolerance induction (GO:0002664)2.67454302
138defense response to protozoan (GO:0042832)2.67376515
139dendritic cell differentiation (GO:0097028)2.67348677
140positive regulation of type 2 immune response (GO:0002830)2.67120373
141response to protozoan (GO:0001562)2.67029003
142peptide catabolic process (GO:0043171)2.66940162

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.14087464
2* IRF8_21731497_ChIP-ChIP_J774_Mouse6.97665100
3IRF8_22096565_ChIP-ChIP_GC-B_Human6.08501962
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.86787683
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.64207479
6Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse4.03053465
7* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.99808597
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.36973068
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.17393863
10MYB_21317192_ChIP-Seq_ERMYB_Mouse3.13491047
11NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.00390917
12EGR1_19374776_ChIP-ChIP_THP-1_Human2.96750199
13IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.89142097
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.71438092
15* SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.57341719
16BRD4_27068464_Chip-Seq_AML-cells_Mouse2.47555322
17STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.44111666
18RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.41952477
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.40749862
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.32824667
21* SPI1_23547873_ChIP-Seq_NB4_Human2.26442905
22PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.22776940
23SPI1_23127762_ChIP-Seq_K562_Human2.09973467
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.06956818
25VDR_24763502_ChIP-Seq_THP-1_Human1.95961184
26THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.91896985
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.86977018
28CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.84437907
29RUNX1_22412390_ChIP-Seq_EML_Mouse1.82944576
30* PU_27001747_Chip-Seq_BMDM_Mouse1.82776838
31VDR_24787735_ChIP-Seq_THP-1_Human1.82282134
32VDR_21846776_ChIP-Seq_THP-1_Human1.71587572
33SCL_19346495_ChIP-Seq_HPC-7_Human1.69866040
34VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.69077661
35PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.68985421
36* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.68913185
37ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.66617658
38CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.66442251
39MYB_26560356_Chip-Seq_TH2_Human1.52714059
40NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.51305518
41RUNX_20019798_ChIP-Seq_JUKART_Human1.51147823
42MAF_26560356_Chip-Seq_TH1_Human1.48481110
43* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.46007115
44STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.42682271
45* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.41149981
46* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.39750938
47E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.39226265
48* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.38882767
49STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.35974215
50FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.34042458
51STAT6_21828071_ChIP-Seq_BEAS2B_Human1.33069582
52TFEB_21752829_ChIP-Seq_HELA_Human1.29516375
53* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.27714262
54GATA2_21666600_ChIP-Seq_HMVEC_Human1.26975976
55* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.24167872
56FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22470084
57TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21343686
58* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21284569
59LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.20290065
60ELK3_25401928_ChIP-Seq_HUVEC_Human1.20097136
61MYB_26560356_Chip-Seq_TH1_Human1.17964122
62TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.13761178
63PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.10626637
64UTX_26944678_Chip-Seq_JUKART_Human1.10265829
65TCF7_22412390_ChIP-Seq_EML_Mouse1.09828315
66CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.09304017
67ESR2_21235772_ChIP-Seq_MCF-7_Human1.07622468
68GATA3_26560356_Chip-Seq_TH2_Human1.07240700
69GATA3_27048872_Chip-Seq_THYMUS_Human1.06865729
70RXR_22158963_ChIP-Seq_LIVER_Mouse1.05709132
71GATA2_22383799_ChIP-Seq_G1ME_Mouse1.05417439
72RARG_19884340_ChIP-ChIP_MEFs_Mouse1.05384042
73FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.05257236
74GATA1_22025678_ChIP-Seq_K562_Human1.04910366
75SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03182271
76STAT1_20625510_ChIP-Seq_HELA_Human1.02726549
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.00181689
78LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.98596360
79PPARA_22158963_ChIP-Seq_LIVER_Mouse0.98354097
80KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98015972
81BCL6_27268052_Chip-Seq_Bcells_Human0.97652291
82BCOR_27268052_Chip-Seq_Bcells_Human0.96712512
83GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.95731560
84LXR_22292898_ChIP-Seq_THP-1_Human0.93437001
85GATA1_22383799_ChIP-Seq_G1ME_Mouse0.92986653
86GATA1_19941826_ChIP-Seq_K562_Human0.91773729
87SPI1_20517297_ChIP-Seq_HL60_Human0.90261113
88SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.90228353
89CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89567572
90ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.88844871
91MYC_22102868_ChIP-Seq_BL_Human0.88145870
92GATA1_19941827_ChIP-Seq_MEL_Mouse0.87637813
93LXR_22158963_ChIP-Seq_LIVER_Mouse0.87555937
94SRY_22984422_ChIP-ChIP_TESTIS_Rat0.86623903
95* PU.1_20513432_ChIP-Seq_Bcells_Mouse0.85368882
96NCOR1_26117541_ChIP-Seq_K562_Human0.84790427
97SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.82720867
98TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.82439473
99GATA2_19941826_ChIP-Seq_K562_Human0.80212069
100MAF_26560356_Chip-Seq_TH2_Human0.79296775
101ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.76186228
102KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.76059083
103JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75548139
104GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75050150
105* KDM2B_26808549_Chip-Seq_DND41_Human0.75031982
106SOX2_20726797_ChIP-Seq_SW620_Human0.74079833
107CDX2_19796622_ChIP-Seq_MESCs_Mouse0.73443263
108EGR1_19032775_ChIP-ChIP_M12_Human0.72854524
109JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71864947
110ESR1_21235772_ChIP-Seq_MCF-7_Human0.70562293
111RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.70146897
112IKZF1_21737484_ChIP-ChIP_HCT116_Human0.69219113
113GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.68368919
114P63_26484246_Chip-Seq_KERATINOCYTES_Human0.66283566
115KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.64956228
116FOXO3_23340844_ChIP-Seq_DLD1_Human0.62276300

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology5.00970248
2MP0001835_abnormal_antigen_presentation4.03071881
3MP0003303_peritoneal_inflammation3.98045183
4MP0003436_decreased_susceptibility_to3.85195532
5MP0006082_CNS_inflammation3.77379483
6MP0003172_abnormal_lysosome_physiology3.35514934
7MP0002419_abnormal_innate_immunity3.22832662
8MP0002148_abnormal_hypersensitivity_rea3.01797461
9MP0005000_abnormal_immune_tolerance2.88721422
10MP0009840_abnormal_foam_cell2.81312332
11MP0009785_altered_susceptibility_to2.72107330
12MP0003191_abnormal_cellular_cholesterol2.64106050
13MP0005025_abnormal_response_to2.57647374
14MP0001790_abnormal_immune_system2.53198306
15MP0005387_immune_system_phenotype2.53198306
16MP0002452_abnormal_antigen_presenting2.44871031
17MP0002139_abnormal_hepatobiliary_system2.39979066
18MP0003724_increased_susceptibility_to2.31358525
19MP0001533_abnormal_skeleton_physiology2.29220215
20MP0004510_myositis2.29006490
21MP0002723_abnormal_immune_serum2.21096411
22MP0000604_amyloidosis2.20326294
23MP0001800_abnormal_humoral_immune2.19454684
24MP0005464_abnormal_platelet_physiology2.18069935
25MP0003690_abnormal_glial_cell2.11144052
26MP0005257_abnormal_intraocular_pressure2.08104686
27MP0005671_abnormal_response_to2.06914959
28MP0000685_abnormal_immune_system2.05452158
29MP0000343_altered_response_to2.04361672
30MP0001819_abnormal_immune_cell1.98283015
31MP0002420_abnormal_adaptive_immunity1.96887715
32MP0005451_abnormal_body_composition1.87618535
33MP0002405_respiratory_system_inflammati1.84531955
34MP0003300_gastrointestinal_ulcer1.83808366
35MP0003075_altered_response_to1.79682241
36MP0005310_abnormal_salivary_gland1.75455820
37MP0001845_abnormal_inflammatory_respons1.75415177
38MP0003448_altered_tumor_morphology1.71816696
39MP0004947_skin_inflammation1.69324349
40MP0001853_heart_inflammation1.66226229
41MP0008469_abnormal_protein_level1.63220232
42MP0002998_abnormal_bone_remodeling1.60710531
43MP0009278_abnormal_bone_marrow1.52123321
44MP0003806_abnormal_nucleotide_metabolis1.50100600
45MP0010307_abnormal_tumor_latency1.49184319
46MP0008004_abnormal_stomach_pH1.46685441
47MP0009764_decreased_sensitivity_to1.43699499
48MP0005166_decreased_susceptibility_to1.42112748
49MP0000716_abnormal_immune_system1.38695701
50MP0009333_abnormal_splenocyte_physiolog1.37246618
51MP0000569_abnormal_digit_pigmentation1.35454502
52MP0005167_abnormal_blood-brain_barrier1.31962888
53MP0003453_abnormal_keratinocyte_physiol1.31435202
54MP0000689_abnormal_spleen_morphology1.31285765
55MP0006054_spinal_hemorrhage1.29937161
56MP0003329_amyloid_beta_deposits1.26093110
57MP0010155_abnormal_intestine_physiology1.24056342
58MP0001851_eye_inflammation1.23949832
59MP0003183_abnormal_peptide_metabolism1.23505005
60MP0000858_altered_metastatic_potential1.22775142
61MP0002398_abnormal_bone_marrow1.21966133
62MP0008260_abnormal_autophagy1.19268829
63MP0003828_pulmonary_edema1.13127716
64MP0002429_abnormal_blood_cell1.12948460
65MP0002933_joint_inflammation1.11729117
66MP0003566_abnormal_cell_adhesion1.11567650
67MP0000465_gastrointestinal_hemorrhage1.11495112
68MP0005390_skeleton_phenotype1.09026696
69MP0005365_abnormal_bile_salt1.08242072
70MP0002722_abnormal_immune_system1.06944731
71MP0005164_abnormal_response_to1.06829679
72MP0005174_abnormal_tail_pigmentation1.05905286
73MP0001545_abnormal_hematopoietic_system1.04570419
74MP0005397_hematopoietic_system_phenotyp1.04570419
75MP0002090_abnormal_vision1.03005601
76MP0004782_abnormal_surfactant_physiolog0.99914638
77MP0008438_abnormal_cutaneous_collagen0.94359807
78MP0002277_abnormal_respiratory_mucosa0.92871661
79MP0005076_abnormal_cell_differentiation0.90911515
80MP0003656_abnormal_erythrocyte_physiolo0.90265976
81MP0002877_abnormal_melanocyte_morpholog0.89462976
82MP0002006_tumorigenesis0.86482002
83MP0001542_abnormal_bone_strength0.86157187
84MP0009763_increased_sensitivity_to0.84780072
85MP0000249_abnormal_blood_vessel0.83678618
86MP0002166_altered_tumor_susceptibility0.82639315
87MP0000920_abnormal_myelination0.81852714
88MP0003795_abnormal_bone_structure0.81329437
89MP0004883_abnormal_blood_vessel0.80944872
90MP0002332_abnormal_exercise_endurance0.76371812
91MP0001958_emphysema0.75733614
92MP0003186_abnormal_redox_activity0.71091630
93MP0003705_abnormal_hypodermis_morpholog0.70337195
94MP0004858_abnormal_nervous_system0.69910900
95MP0003634_abnormal_glial_cell0.69886066
96MP0002138_abnormal_hepatobiliary_system0.69297017
97MP0000490_abnormal_crypts_of0.68309212
98MP0002254_reproductive_system_inflammat0.68123773
99MP0003279_aneurysm0.66031408
100MP0002136_abnormal_kidney_physiology0.65817041
101MP0008874_decreased_physiological_sensi0.65690939
102MP0009765_abnormal_xenobiotic_induced0.65512424
103MP0001873_stomach_inflammation0.65339201
104MP0005083_abnormal_biliary_tract0.64403721
105MP0005647_abnormal_sex_gland0.64319494
106MP0000015_abnormal_ear_pigmentation0.63913149
107MP0005197_abnormal_uvea_morphology0.63611466
108MP0000371_diluted_coat_color0.62627416
109MP0001663_abnormal_digestive_system0.62104283
110MP0003195_calcinosis0.61983493
111MP0003091_abnormal_cell_migration0.61519335
112MP0005023_abnormal_wound_healing0.61285885
113MP0010386_abnormal_urinary_bladder0.60535745
114MP0000609_abnormal_liver_physiology0.58911153
115MP0005165_increased_susceptibility_to0.58501714
116MP0005319_abnormal_enzyme/_coenzyme0.57883538
117MP0000767_abnormal_smooth_muscle0.57787023
118MP0001849_ear_inflammation0.57519481
119MP0008873_increased_physiological_sensi0.55292032
120MP0004019_abnormal_vitamin_homeostasis0.55134927
121MP0005584_abnormal_enzyme/coenzyme_acti0.54705049
122MP0005595_abnormal_vascular_smooth0.53599688

Predicted human phenotypes

RankGene SetZ-score
1Increased cerebral lipofuscin (HP:0011813)6.86752161
2Recurrent abscess formation (HP:0002722)6.79650373
3Systemic lupus erythematosus (HP:0002725)6.15310886
4Increased neuronal autofluorescent lipopigment (HP:0002074)6.00530064
5Vacuolated lymphocytes (HP:0001922)5.97648468
6Eczematoid dermatitis (HP:0000976)5.82082795
7Recurrent bacterial skin infections (HP:0005406)5.77523349
8Recurrent gram-negative bacterial infections (HP:0005420)5.35865796
9Abnormality of glycolipid metabolism (HP:0010969)5.14890354
10Abnormality of liposaccharide metabolism (HP:0010968)5.14890354
11Abnormality of glycosphingolipid metabolism (HP:0004343)5.14890354
12Abnormality of macrophages (HP:0004311)5.10397724
13Dysostosis multiplex (HP:0000943)5.00472484
14Disinhibition (HP:0000734)4.78607821
15Axonal loss (HP:0003447)4.53973625
16Glomerulonephritis (HP:0000099)4.24465220
17Urinary glycosaminoglycan excretion (HP:0003541)4.15939273
18Mucopolysacchariduria (HP:0008155)4.15939273
19Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.94997090
20Abnormality of mucopolysaccharide metabolism (HP:0011020)3.92874318
21Abnormality of polysaccharide metabolism (HP:0011012)3.92874318
22Abnormality of glycosaminoglycan metabolism (HP:0004371)3.92874318
23Mediastinal lymphadenopathy (HP:0100721)3.87183717
24Agnosia (HP:0010524)3.58257486
25Obstructive lung disease (HP:0006536)3.55831583
26Chronic obstructive pulmonary disease (HP:0006510)3.55831583
27Loss of speech (HP:0002371)3.51394631
28Gingivitis (HP:0000230)3.48910603
29Myositis (HP:0100614)3.44079767
30Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.35615430
31Recurrent skin infections (HP:0001581)3.35332807
32Autoimmune thrombocytopenia (HP:0001973)3.22965366
33Purpura (HP:0000979)3.20805870
34Orchitis (HP:0100796)3.19261528
35Elevated erythrocyte sedimentation rate (HP:0003565)3.15124816
36Stomatitis (HP:0010280)3.10120554
37Nuclear cataract (HP:0100018)3.08120570
38Upper motor neuron abnormality (HP:0002127)2.95497307
39Abnormality of complement system (HP:0005339)2.87445951
40Hepatosplenomegaly (HP:0001433)2.86376664
41Basal ganglia calcification (HP:0002135)2.84359555
42Complement deficiency (HP:0004431)2.82813617
43Recurrent fungal infections (HP:0002841)2.72394548
44Retrobulbar optic neuritis (HP:0100654)2.71956606
45Optic neuritis (HP:0100653)2.71956606
46J-shaped sella turcica (HP:0002680)2.71519825
47Increased serum ferritin (HP:0003281)2.70279032
48Interstitial pulmonary disease (HP:0006530)2.68239197
49Nephritis (HP:0000123)2.65532337
50Myocardial infarction (HP:0001658)2.64845569
51Apathy (HP:0000741)2.63416362
52Abnormality of the vasculature of the conjunctiva (HP:0008054)2.63233661
53Diminished motivation (HP:0000745)2.60927976
54Pathologic fracture (HP:0002756)2.59592318
55Pustule (HP:0200039)2.58098777
56Prostate neoplasm (HP:0100787)2.53888024
57Mutism (HP:0002300)2.49478461
58Cellulitis (HP:0100658)2.48126306
59Inappropriate behavior (HP:0000719)2.47300891
60Urticaria (HP:0001025)2.46598686
61Thick nail (HP:0001805)2.46502710
62Cerebral inclusion bodies (HP:0100314)2.42047191
63Periodontitis (HP:0000704)2.40428584
64Asymmetric septal hypertrophy (HP:0001670)2.40091556
65Neuronal loss in central nervous system (HP:0002529)2.37844007
66Personality changes (HP:0000751)2.37193129
67Conjunctival telangiectasia (HP:0000524)2.34419413
68Osteolytic defects of the phalanges of the hand (HP:0009771)2.33129687
69Osteolytic defects of the hand bones (HP:0009699)2.33129687
70Bone pain (HP:0002653)2.31824704
71Vasculitis (HP:0002633)2.28514135
72Retinal atrophy (HP:0001105)2.27434956
73Peripheral demyelination (HP:0011096)2.27119430
74Thoracic kyphosis (HP:0002942)2.26116664
75Osteomyelitis (HP:0002754)2.23211899
76Spontaneous hematomas (HP:0007420)2.22853559
77Petechiae (HP:0000967)2.21649950
78Recurrent viral infections (HP:0004429)2.21384602
79Metaphyseal irregularity (HP:0003025)2.21372710
80Abnormality of iron homeostasis (HP:0011031)2.21091097
81Abnormality of the lumbar spine (HP:0100712)2.18147089
82Hematochezia (HP:0002573)2.15986255
83Keratoconjunctivitis sicca (HP:0001097)2.14064047
84Hemoptysis (HP:0002105)2.12948923
85Progressive neurologic deterioration (HP:0002344)2.12646132
86Recurrent pneumonia (HP:0006532)2.12366440
87Progressive visual loss (HP:0000529)2.12192615
88Dementia (HP:0000726)2.09550904
89Pulmonary infiltrates (HP:0002113)2.04993619
90Malnutrition (HP:0004395)2.04284174
91Polyneuropathy (HP:0001271)2.03662077
92Meningitis (HP:0001287)2.02514613
93Prolonged neonatal jaundice (HP:0006579)2.01932674
94Tetraparesis (HP:0002273)1.98341443
95Vertebral compression fractures (HP:0002953)1.96089197
96Joint hemorrhage (HP:0005261)1.94396687
97Neurofibrillary tangles (HP:0002185)1.94227349
98Poor head control (HP:0002421)1.93582091
99Keratoconjunctivitis (HP:0001096)1.92497930
100Global brain atrophy (HP:0002283)1.91477929
101Abnormality of the periventricular white matter (HP:0002518)1.90433966
102Supranuclear gaze palsy (HP:0000605)1.90092519
103Spondylolisthesis (HP:0003302)1.87346920
104Colitis (HP:0002583)1.86706424
105Chronic mucocutaneous candidiasis (HP:0002728)1.86564008
106Recurrent cutaneous fungal infections (HP:0011370)1.86564008
107Cardiomegaly (HP:0001640)1.86138706
108T lymphocytopenia (HP:0005403)1.85775682
109Epistaxis (HP:0000421)1.85002699
110Leukocytosis (HP:0001974)1.82206293
111Deformed sella turcica (HP:0002681)1.81969296
112Increased CSF protein (HP:0002922)1.81156948
113Increased IgM level (HP:0003496)1.81014714
114Arterial thrombosis (HP:0004420)1.80360800
115Nausea (HP:0002018)1.79803373
116Chronic otitis media (HP:0000389)1.79574225
117Memory impairment (HP:0002354)1.78029735
118Inflammation of the large intestine (HP:0002037)1.77280673
119Ovoid vertebral bodies (HP:0003300)1.77240347
120Abnormality of transition element cation homeostasis (HP:0011030)1.76249849
121Restrictive lung disease (HP:0002091)1.76075944
122Amyloidosis (HP:0011034)1.75581395
123Gingival bleeding (HP:0000225)1.74797686
124Encephalitis (HP:0002383)1.72059670
125Xanthomatosis (HP:0000991)1.71802606

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK43.69668022
2BLK3.66352681
3KIT3.52118486
4TBK13.43829228
5ERN13.31731983
6TYK23.10250248
7IRAK42.91993763
8TGFBR22.89688761
9MAP4K12.88799909
10MAP3K142.87342789
11IRAK32.52716565
12PRPF4B2.29613701
13DDR22.29522145
14CSF1R2.09481966
15IKBKB2.02315901
16IKBKE1.97907435
17TAOK11.85340700
18NME21.74657503
19ZAP701.70503043
20ACVR1B1.69768006
21TXK1.69103350
22JAK11.67375579
23CSK1.67107539
24HCK1.63892681
25PBK1.60820423
26SYK1.58325305
27FES1.56280220
28TAOK31.52114773
29FGR1.49882225
30JAK31.46101344
31CAMK1D1.45713397
32CDC42BPA1.43187947
33EPHB11.41132466
34STK101.40316357
35GRK71.37841751
36LYN1.37154776
37PIM21.34169795
38NEK91.33960809
39MAP2K31.33144431
40TRIB31.32937429
41PKN21.24519732
42BMX1.19176060
43LCK1.18286317
44BTK1.16135364
45ABL21.14339349
46JAK21.14056836
47MATK1.08047305
48SCYL21.08037625
49ADRBK21.07496961
50PAK41.06754072
51CHUK0.98952234
52MAP3K30.97002655
53RPS6KA40.94952998
54TTN0.91977303
55RIPK10.91121380
56IRAK20.89239436
57MOS0.88390221
58CLK10.87173803
59EGFR0.87003819
60CAMKK20.85066851
61SIK30.84290582
62PIM10.82339202
63TRPM70.82058256
64CAMK1G0.81376507
65MAP3K130.80906111
66TEC0.80101388
67PRKCD0.78403244
68MARK30.77592325
69LRRK20.75746361
70MAP3K110.74768262
71ABL10.73905805
72PTK60.73203468
73ITK0.72935837
74IRAK10.72770788
75PDK20.68257882
76CAMKK10.66932019
77ARAF0.66404432
78SIK20.65916142
79TNK20.64577252
80CDK60.58244638
81MAP2K60.57390631
82GRK60.54274498
83MST1R0.53743323
84MAPK70.52581185
85FYN0.52386930
86TESK10.51918981
87CDK120.51840220
88TYRO30.50633848
89MAP3K50.47887779
90PDGFRA0.45816142
91KSR20.45484792
92RPS6KA20.43434120
93MAPK120.43260463
94BMPR20.42936288
95FGFR30.41420963
96IGF1R0.40617396
97MAPK40.40559684
98TAOK20.40508897
99RPS6KA60.39615176
100EIF2AK20.39449067
101MAP3K10.38526126
102MAPKAPK20.38501796
103PDGFRB0.38306424
104MARK20.38197226
105ICK0.37723689
106PRKG20.37269513
107YES10.37183149
108SIK10.37058781
109KDR0.36243291
110PDK10.35457953
111STK40.35182520
112PDPK10.34490053
113PRKCH0.32100053
114TESK20.31701358
115LIMK10.31687610
116DAPK30.30462300
117GSK3A0.30421077
118RPS6KL10.29119562
119RPS6KC10.29119562
120TGFBR10.28776240
121PRKD20.28771509
122ERBB30.28670161
123FGFR40.28058811
124MAP3K60.27819917
125DMPK0.27448534
126HIPK20.27215320
127MST40.27077322
128SRC0.26986829
129MAP2K20.26934416
130DAPK20.26475091

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051504.14687622
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.89322850
3* Lysosome_Homo sapiens_hsa041423.70242209
4Leishmaniasis_Homo sapiens_hsa051403.28637094
5Other glycan degradation_Homo sapiens_hsa005113.10838884
6Osteoclast differentiation_Homo sapiens_hsa043802.68459008
7Toll-like receptor signaling pathway_Homo sapiens_hsa046202.62991235
8Pertussis_Homo sapiens_hsa051332.47520719
9Tuberculosis_Homo sapiens_hsa051522.40426395
10Phagosome_Homo sapiens_hsa041452.23192675
11Rheumatoid arthritis_Homo sapiens_hsa053232.20841995
12Malaria_Homo sapiens_hsa051442.17878615
13Legionellosis_Homo sapiens_hsa051342.13026391
14NF-kappa B signaling pathway_Homo sapiens_hsa040641.97563933
15Antigen processing and presentation_Homo sapiens_hsa046121.84028783
16B cell receptor signaling pathway_Homo sapiens_hsa046621.80450944
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.78319657
18Salmonella infection_Homo sapiens_hsa051321.67283903
19Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.64018944
20Asthma_Homo sapiens_hsa053101.59982886
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.56298357
22Graft-versus-host disease_Homo sapiens_hsa053321.54934752
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.53761572
24Measles_Homo sapiens_hsa051621.51461429
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.49534493
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.49223688
27Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.47264144
28Apoptosis_Homo sapiens_hsa042101.43832853
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.43094334
30Toxoplasmosis_Homo sapiens_hsa051451.41272005
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.40751706
32Influenza A_Homo sapiens_hsa051641.39199967
33RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.34071672
34TNF signaling pathway_Homo sapiens_hsa046681.29547700
35Complement and coagulation cascades_Homo sapiens_hsa046101.28289752
36Shigellosis_Homo sapiens_hsa051311.27859173
37Hematopoietic cell lineage_Homo sapiens_hsa046401.25002290
38Intestinal immune network for IgA production_Homo sapiens_hsa046721.21687382
39Allograft rejection_Homo sapiens_hsa053301.19512871
40Chemokine signaling pathway_Homo sapiens_hsa040621.18923847
41Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.15987643
42Collecting duct acid secretion_Homo sapiens_hsa049661.13807058
43Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.04019681
44Prion diseases_Homo sapiens_hsa050201.03545233
45Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.02674162
46Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.98738040
47African trypanosomiasis_Homo sapiens_hsa051430.97052448
48Hepatitis B_Homo sapiens_hsa051610.95587562
49Herpes simplex infection_Homo sapiens_hsa051680.95318240
50Amoebiasis_Homo sapiens_hsa051460.95309344
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.94351558
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.89937518
53Sphingolipid metabolism_Homo sapiens_hsa006000.84277706
54Jak-STAT signaling pathway_Homo sapiens_hsa046300.84154700
55Hepatitis C_Homo sapiens_hsa051600.82971211
56Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.82473774
57AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81756808
58Bladder cancer_Homo sapiens_hsa052190.78499058
59Viral myocarditis_Homo sapiens_hsa054160.74864531
60Caffeine metabolism_Homo sapiens_hsa002320.70679404
61Chronic myeloid leukemia_Homo sapiens_hsa052200.69517191
62Platelet activation_Homo sapiens_hsa046110.68135812
63Pancreatic cancer_Homo sapiens_hsa052120.65109162
64Endocytosis_Homo sapiens_hsa041440.64680806
65Mineral absorption_Homo sapiens_hsa049780.63666361
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.61143501
67Renin-angiotensin system_Homo sapiens_hsa046140.60761987
68T cell receptor signaling pathway_Homo sapiens_hsa046600.58874396
69Acute myeloid leukemia_Homo sapiens_hsa052210.57806448
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57383357
71Type I diabetes mellitus_Homo sapiens_hsa049400.57137224
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.56412169
73PPAR signaling pathway_Homo sapiens_hsa033200.55911315
74Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55551869
75Vibrio cholerae infection_Homo sapiens_hsa051100.53997055
76HIF-1 signaling pathway_Homo sapiens_hsa040660.48428220
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.46341191
78Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.45560323
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45224772
80Fructose and mannose metabolism_Homo sapiens_hsa000510.42114844
81Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.39777312
82VEGF signaling pathway_Homo sapiens_hsa043700.38993890
83Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37432169
84Proteoglycans in cancer_Homo sapiens_hsa052050.36673810
85Epstein-Barr virus infection_Homo sapiens_hsa051690.36459944
86Sulfur metabolism_Homo sapiens_hsa009200.36408682
87Primary immunodeficiency_Homo sapiens_hsa053400.35270141
88Adipocytokine signaling pathway_Homo sapiens_hsa049200.35032765
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31677848
90Type II diabetes mellitus_Homo sapiens_hsa049300.31334810
91Steroid biosynthesis_Homo sapiens_hsa001000.29947333
92Viral carcinogenesis_Homo sapiens_hsa052030.28549613
93Prolactin signaling pathway_Homo sapiens_hsa049170.28505882
94Renal cell carcinoma_Homo sapiens_hsa052110.28037104
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27739283
96GnRH signaling pathway_Homo sapiens_hsa049120.27670665
97Galactose metabolism_Homo sapiens_hsa000520.26384203
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25191178
99Notch signaling pathway_Homo sapiens_hsa043300.24980457
100Autoimmune thyroid disease_Homo sapiens_hsa053200.24628972
101Transcriptional misregulation in cancer_Homo sapiens_hsa052020.22396612
102Phospholipase D signaling pathway_Homo sapiens_hsa040720.20012864
103Pentose phosphate pathway_Homo sapiens_hsa000300.18483030
104Systemic lupus erythematosus_Homo sapiens_hsa053220.17091343
105Small cell lung cancer_Homo sapiens_hsa052220.16908543
106HTLV-I infection_Homo sapiens_hsa051660.16474965
107Insulin resistance_Homo sapiens_hsa049310.14897622
108Colorectal cancer_Homo sapiens_hsa052100.12900979
109Synaptic vesicle cycle_Homo sapiens_hsa047210.12507500

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