TREM2

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 membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants 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:008.43627866
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:08.43627866
3positive regulation by organism of defense response of other organism involved in symbiotic interact8.43627866
4modulation by symbiont of host immune response (GO:0052553)8.43627866
5positive regulation by symbiont of host defense response (GO:0052509)8.43627866
6modulation by symbiont of host defense response (GO:0052031)8.43627866
7regulation of interferon-beta biosynthetic process (GO:0045357)7.27454986
8microglial cell activation (GO:0001774)6.74768902
9macrophage activation involved in immune response (GO:0002281)6.68988012
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.57360048
11amino sugar catabolic process (GO:0046348)5.83778654
12oligosaccharide catabolic process (GO:0009313)5.81727704
13positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.62484499
14neutrophil activation involved in immune response (GO:0002283)5.57133735
15positive regulation of interferon-alpha production (GO:0032727)5.35515781
16response to host immune response (GO:0052572)5.34854651
17response to immune response of other organism involved in symbiotic interaction (GO:0052564)5.34854651
18regulation of interferon-alpha production (GO:0032647)5.06208014
19negative regulation of interleukin-12 production (GO:0032695)4.95440902
20macrophage activation (GO:0042116)4.93930813
21response to host defenses (GO:0052200)4.89410125
22response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.89410125
23response to host (GO:0075136)4.89410125
24response to peptidoglycan (GO:0032494)4.64959807
25regulation of B cell receptor signaling pathway (GO:0050855)4.56840324
26N-acetylneuraminate metabolic process (GO:0006054)4.52105984
27myeloid cell activation involved in immune response (GO:0002275)4.47303860
28immunoglobulin mediated immune response (GO:0016064)4.37722238
29positive regulation of myeloid leukocyte mediated immunity (GO:0002888)4.26946468
30barbed-end actin filament capping (GO:0051016)4.18559737
31respiratory burst (GO:0045730)4.14677656
32membrane lipid catabolic process (GO:0046466)4.04165582
33adenosine receptor signaling pathway (GO:0001973)4.03878116
34sphingolipid catabolic process (GO:0030149)4.02092845
35I-kappaB phosphorylation (GO:0007252)4.01999027
36regulation of mononuclear cell migration (GO:0071675)3.82464288
37positive regulation of chemokine secretion (GO:0090197)3.82365540
38positive regulation of monocyte chemotaxis (GO:0090026)3.79683415
39pinocytosis (GO:0006907)3.76469694
40regulation of interleukin-8 biosynthetic process (GO:0045414)3.76205886
41granulocyte activation (GO:0036230)3.76096836
42positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.75862186
43positive regulation of interferon-beta production (GO:0032728)3.72683930
44negative regulation of granulocyte differentiation (GO:0030853)3.69304749
45G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.69215172
46positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.68245786
47T-helper 1 type immune response (GO:0042088)3.64569205
48negative regulation of nitric oxide biosynthetic process (GO:0045019)3.63934672
49neutrophil activation (GO:0042119)3.62964425
50glycosphingolipid catabolic process (GO:0046479)3.60688874
51myeloid dendritic cell differentiation (GO:0043011)3.56425660
52negative regulation of cell killing (GO:0031342)3.55361653
53negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.55361653
54negative regulation of interleukin-17 production (GO:0032700)3.52253153
55positive regulation of mast cell activation (GO:0033005)3.46647575
56adhesion of symbiont to host cell (GO:0044650)3.43135636
57virion attachment to host cell (GO:0019062)3.43135636
58hyaluronan catabolic process (GO:0030214)3.43042965
59neutrophil mediated immunity (GO:0002446)3.40613669
60regulation of hypersensitivity (GO:0002883)3.38323884
61regulation of mast cell degranulation (GO:0043304)3.36594450
62negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.34041752
63positive regulation of B cell differentiation (GO:0045579)3.34011905
64response to muramyl dipeptide (GO:0032495)3.32888094
65keratan sulfate catabolic process (GO:0042340)3.32772963
66positive regulation of cellular amide metabolic process (GO:0034250)3.32691397
67cellular response to thyroid hormone stimulus (GO:0097067)3.32362500
68macrophage differentiation (GO:0030225)3.30645726
69myeloid dendritic cell activation (GO:0001773)3.27267805
70regulation of mast cell activation (GO:0033003)3.26579318
71mannose metabolic process (GO:0006013)3.26544870
72lipopolysaccharide-mediated signaling pathway (GO:0031663)3.24577046
73eosinophil chemotaxis (GO:0048245)3.24098679
74regulation of superoxide anion generation (GO:0032928)3.23346098
75glycolipid catabolic process (GO:0019377)3.21839893
76regulation of mast cell activation involved in immune response (GO:0033006)3.20678624
77positive regulation of cholesterol efflux (GO:0010875)3.18844304
78myeloid leukocyte activation (GO:0002274)3.17869614
79positive regulation of gamma-delta T cell activation (GO:0046645)3.15808742
80positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.13998791
81adhesion of symbiont to host (GO:0044406)3.13987952
82negative regulation of mast cell activation (GO:0033004)3.12790955
83lysosome organization (GO:0007040)3.09404007
84lytic vacuole organization (GO:0080171)3.09404007
85regulation of cholesterol storage (GO:0010885)3.06925767
86monocyte chemotaxis (GO:0002548)3.04549462
87negative regulation of interleukin-6 production (GO:0032715)3.03266526
88positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.01567162
89ganglioside metabolic process (GO:0001573)3.00742792
90B cell mediated immunity (GO:0019724)2.99725260
91histamine secretion (GO:0001821)2.99722863
92regulation of leukocyte degranulation (GO:0043300)2.98618716
93interferon-gamma-mediated signaling pathway (GO:0060333)2.98024928
94regulation of monocyte chemotaxis (GO:0090025)2.97298271
95detection of molecule of bacterial origin (GO:0032490)2.94492390
96regulation of interferon-gamma biosynthetic process (GO:0045072)2.91678218
97NIK/NF-kappaB signaling (GO:0038061)2.91595790
98lymphocyte chemotaxis (GO:0048247)2.91468947
99glucosamine-containing compound catabolic process (GO:1901072)2.91261081
100apoptotic cell clearance (GO:0043277)2.91170104
101positive regulation of heat generation (GO:0031652)2.90932573
102positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.90728797
103cellular extravasation (GO:0045123)2.89699257
104phagosome maturation (GO:0090382)2.88862709
105eosinophil migration (GO:0072677)2.88250624
106positive regulation of chemokine production (GO:0032722)2.85650803
107neutrophil chemotaxis (GO:0030593)2.85362960
108ceramide catabolic process (GO:0046514)2.85292307
109regulation of inflammatory response to antigenic stimulus (GO:0002861)2.83965199
110regulation of macrophage chemotaxis (GO:0010758)2.83788035
111positive regulation of bone remodeling (GO:0046852)2.83496245
112positive regulation of bone resorption (GO:0045780)2.83496245
113regulation of vitamin D biosynthetic process (GO:0060556)2.82829007
114regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.82312782
115positive regulation of leukocyte degranulation (GO:0043302)2.82134128
116natural killer cell mediated cytotoxicity (GO:0042267)2.81178785
117natural killer cell mediated immunity (GO:0002228)2.81178785
118detection of external biotic stimulus (GO:0098581)2.80775372
119osteoclast differentiation (GO:0030316)2.79635792
120protein localization to endosome (GO:0036010)2.78970681
121positive regulation of mast cell activation involved in immune response (GO:0033008)2.78808192
122positive regulation of mast cell degranulation (GO:0043306)2.78808192
123neutrophil migration (GO:1990266)2.76921087
124purinergic nucleotide receptor signaling pathway (GO:0035590)2.76785509
125positive regulation of macrophage cytokine production (GO:0060907)2.76151196
126plasma lipoprotein particle clearance (GO:0034381)2.75110472
127response to lipoprotein particle (GO:0055094)2.74631323
128positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.74010690
129regulation of interferon-beta production (GO:0032648)2.73933142
130production of molecular mediator involved in inflammatory response (GO:0002532)2.73577493
131G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.73139644
132regulation of chemokine secretion (GO:0090196)2.72746800
133epithelial cell differentiation involved in prostate gland development (GO:0060742)2.70214843
134macrophage chemotaxis (GO:0048246)2.69454777
135negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.67963414
136positive regulation of cholesterol transport (GO:0032376)2.67385253
137positive regulation of sterol transport (GO:0032373)2.67385253
138positive regulation of toll-like receptor signaling pathway (GO:0034123)2.67252144
139regulation of myeloid leukocyte mediated immunity (GO:0002886)2.66957377
140B cell receptor signaling pathway (GO:0050853)2.66408029
141regulation of membrane protein ectodomain proteolysis (GO:0051043)2.65867159
142positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.65850064
143phagocytosis, engulfment (GO:0006911)2.64470316
144regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.64348760
145regulation of dendritic cell antigen processing and presentation (GO:0002604)2.63084595
146hydrogen peroxide biosynthetic process (GO:0050665)2.61865729
147response to thyroid hormone (GO:0097066)2.61316926
148positive regulation of chemokine biosynthetic process (GO:0045080)2.61003247
149lipoprotein transport (GO:0042953)2.60797901
150positive regulation of lymphocyte migration (GO:2000403)2.56761663

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_21731497_ChIP-ChIP_J774_Mouse6.99234179
2BP1_19119308_ChIP-ChIP_Hs578T_Human6.25246248
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.75354004
4* IRF8_27001747_Chip-Seq_BMDM_Mouse5.24068860
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse5.00198771
6Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse4.38516733
7NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse4.18386078
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.46411387
9NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.98914225
10MYB_21317192_ChIP-Seq_ERMYB_Mouse2.87501315
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.81136603
12FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.58801941
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.52919862
14BRD4_27068464_Chip-Seq_AML-cells_Mouse2.51781859
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.50287070
16SPI1_23127762_ChIP-Seq_K562_Human2.48513243
17PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.40126988
18STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.39877717
19SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.36804256
20* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.31873227
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.30482959
22SPI1_23547873_ChIP-Seq_NB4_Human2.29319436
23VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.21696407
24SCL_19346495_ChIP-Seq_HPC-7_Human2.18453524
25VDR_24787735_ChIP-Seq_THP-1_Human2.04868339
26RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.00519378
27PU_27001747_Chip-Seq_BMDM_Mouse1.99347910
28VDR_24763502_ChIP-Seq_THP-1_Human1.97850101
29RUNX1_22412390_ChIP-Seq_EML_Mouse1.89136120
30PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.88810166
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.84512791
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.83680083
33VDR_21846776_ChIP-Seq_THP-1_Human1.81545418
34* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.78382744
35STAT4_19710469_ChIP-ChIP_TH1__Mouse1.75785072
36RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.73522588
37NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.71435000
38RUNX_20019798_ChIP-Seq_JUKART_Human1.67254995
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.59553108
40* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.57230323
41E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.53890298
42MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.51502288
43GATA2_21666600_ChIP-Seq_HMVEC_Human1.48159550
44PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.41039322
45FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.40453673
46MYB_26560356_Chip-Seq_TH2_Human1.37889744
47CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.37198777
48* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.35693882
49MAF_26560356_Chip-Seq_TH1_Human1.34756023
50SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33298140
51STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.28856998
52TFEB_21752829_ChIP-Seq_HELA_Human1.28037779
53STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.26125958
54RARG_19884340_ChIP-ChIP_MEFs_Mouse1.24822048
55SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.23144170
56TCF7_22412390_ChIP-Seq_EML_Mouse1.22778809
57PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22262173
58* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20454225
59PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18205811
60* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16494303
61* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.15840690
62GATA1_22025678_ChIP-Seq_K562_Human1.14020028
63GATA2_22383799_ChIP-Seq_G1ME_Mouse1.13805988
64STAT1_20625510_ChIP-Seq_HELA_Human1.12941686
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.12715397
66MYB_26560356_Chip-Seq_TH1_Human1.12588453
67KDM2B_26808549_Chip-Seq_SUP-B15_Human1.12551791
68FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08180140
69SRY_22984422_ChIP-ChIP_TESTIS_Rat1.08177593
70FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.06705898
71CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.06506990
72GATA3_27048872_Chip-Seq_THYMUS_Human1.05518201
73GATA1_19941827_ChIP-Seq_MEL_Mouse1.01636280
74BCL6_27268052_Chip-Seq_Bcells_Human1.00620191
75CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.00307321
76* GATA3_26560356_Chip-Seq_TH2_Human1.00092998
77UTX_26944678_Chip-Seq_JUKART_Human0.99975538
78STAT6_21828071_ChIP-Seq_BEAS2B_Human0.98623504
79GATA1_19941826_ChIP-Seq_K562_Human0.98089212
80GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.97217979
81KDM2B_26808549_Chip-Seq_K562_Human0.94979891
82ESR2_21235772_ChIP-Seq_MCF-7_Human0.94059624
83* LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93757365
84BCOR_27268052_Chip-Seq_Bcells_Human0.92550957
85GATA2_19941826_ChIP-Seq_K562_Human0.92110275
86ELF1_20517297_ChIP-Seq_JURKAT_Human0.91669034
87GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90776684
88KDM2B_26808549_Chip-Seq_DND41_Human0.89775705
89ESR1_21235772_ChIP-Seq_MCF-7_Human0.88050498
90* GATA1_22383799_ChIP-Seq_G1ME_Mouse0.86920690
91* LXR_22292898_ChIP-Seq_THP-1_Human0.86269281
92RXR_22158963_ChIP-Seq_LIVER_Mouse0.85263138
93SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.84865500
94TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.84736609
95GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84597985
96PU.1_20513432_ChIP-Seq_Bcells_Mouse0.83731659
97IKZF1_21737484_ChIP-ChIP_HCT116_Human0.83121453
98PPARA_22158963_ChIP-Seq_LIVER_Mouse0.82485987
99MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.82299119
100* SPI1_20517297_ChIP-Seq_HL60_Human0.80797240
101SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79189069
102CDX2_19796622_ChIP-Seq_MESCs_Mouse0.78314132
103KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.77916092
104FOXO3_23340844_ChIP-Seq_DLD1_Human0.77603384
105TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.77490280
106NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.76436208
107KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.76245125
108JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75745721
109SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.74796211
110JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71350441
111LXR_22158963_ChIP-Seq_LIVER_Mouse0.70603984
112FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.68404495
113RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.67922584
114MYC_22102868_ChIP-Seq_BL_Human0.67640885
115SOX2_20726797_ChIP-Seq_SW620_Human0.67636121
116MAF_26560356_Chip-Seq_TH2_Human0.67634645
117NRF2_20460467_ChIP-Seq_MEFs_Mouse0.67406759
118NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.67406759
119SMRT_27268052_Chip-Seq_Bcells_Human0.66406462

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology5.76464618
2MP0003172_abnormal_lysosome_physiology4.45969438
3MP0006082_CNS_inflammation4.39193796
4MP0001835_abnormal_antigen_presentation3.78225585
5MP0003303_peritoneal_inflammation3.59579429
6MP0003436_decreased_susceptibility_to3.38705702
7MP0003191_abnormal_cellular_cholesterol3.33594042
8MP0002419_abnormal_innate_immunity3.09979191
9MP0000569_abnormal_digit_pigmentation2.93109269
10MP0009840_abnormal_foam_cell2.90241928
11MP0003690_abnormal_glial_cell2.69333488
12MP0005000_abnormal_immune_tolerance2.59774988
13MP0002148_abnormal_hypersensitivity_rea2.52753797
14MP0005464_abnormal_platelet_physiology2.43725596
15MP0002452_abnormal_antigen_presenting2.34468973
16MP0002139_abnormal_hepatobiliary_system2.34039538
17MP0005025_abnormal_response_to2.23284267
18MP0009785_altered_susceptibility_to2.21194227
19* MP0002723_abnormal_immune_serum2.04287685
20MP0001533_abnormal_skeleton_physiology2.03185837
21MP0001800_abnormal_humoral_immune2.02499799
22MP0001790_abnormal_immune_system2.02097301
23MP0005387_immune_system_phenotype2.02097301
24MP0004510_myositis2.01768695
25MP0005671_abnormal_response_to1.96597175
26MP0000604_amyloidosis1.95334494
27MP0005257_abnormal_intraocular_pressure1.89298649
28MP0003300_gastrointestinal_ulcer1.88258973
29MP0003075_altered_response_to1.87923472
30MP0003329_amyloid_beta_deposits1.85888847
31MP0001819_abnormal_immune_cell1.85884386
32MP0002420_abnormal_adaptive_immunity1.83369501
33MP0003183_abnormal_peptide_metabolism1.80175348
34MP0000343_altered_response_to1.70758971
35MP0003724_increased_susceptibility_to1.70369715
36MP0002998_abnormal_bone_remodeling1.59525769
37MP0002405_respiratory_system_inflammati1.57119819
38MP0000685_abnormal_immune_system1.57032844
39MP0003806_abnormal_nucleotide_metabolis1.55819393
40MP0001845_abnormal_inflammatory_respons1.54183797
41MP0003448_altered_tumor_morphology1.52948557
42MP0005310_abnormal_salivary_gland1.52172768
43MP0009278_abnormal_bone_marrow1.50390898
44MP0005451_abnormal_body_composition1.49961921
45* MP0008469_abnormal_protein_level1.49849550
46MP0005166_decreased_susceptibility_to1.49329524
47MP0005167_abnormal_blood-brain_barrier1.46023577
48MP0010307_abnormal_tumor_latency1.43170269
49MP0003195_calcinosis1.42926164
50MP0005174_abnormal_tail_pigmentation1.42154543
51MP0004947_skin_inflammation1.35061051
52MP0008004_abnormal_stomach_pH1.34220068
53MP0001851_eye_inflammation1.31238888
54MP0000465_gastrointestinal_hemorrhage1.30609790
55MP0000716_abnormal_immune_system1.29747624
56MP0002090_abnormal_vision1.29261547
57MP0000689_abnormal_spleen_morphology1.28354866
58MP0003566_abnormal_cell_adhesion1.25178601
59MP0000015_abnormal_ear_pigmentation1.24436960
60MP0003453_abnormal_keratinocyte_physiol1.23171482
61MP0005365_abnormal_bile_salt1.16175410
62MP0005165_increased_susceptibility_to1.14565421
63MP0008438_abnormal_cutaneous_collagen1.14485969
64MP0001853_heart_inflammation1.13488868
65MP0006054_spinal_hemorrhage1.13210709
66MP0002398_abnormal_bone_marrow1.12134525
67MP0000858_altered_metastatic_potential1.11377139
68MP0009333_abnormal_splenocyte_physiolog1.08869901
69MP0009764_decreased_sensitivity_to1.08857649
70MP0002429_abnormal_blood_cell1.04700571
71MP0002722_abnormal_immune_system1.01864511
72MP0001545_abnormal_hematopoietic_system1.00976435
73MP0005397_hematopoietic_system_phenotyp1.00976435
74MP0010155_abnormal_intestine_physiology0.99874740
75MP0003828_pulmonary_edema0.97577630
76MP0000920_abnormal_myelination0.96820385
77MP0003656_abnormal_erythrocyte_physiolo0.96157380
78MP0005390_skeleton_phenotype0.93100569
79MP0002933_joint_inflammation0.92379687
80MP0002166_altered_tumor_susceptibility0.91703019
81MP0002877_abnormal_melanocyte_morpholog0.91252468
82MP0001542_abnormal_bone_strength0.89793836
83MP0003634_abnormal_glial_cell0.89115056
84MP0001958_emphysema0.88275347
85MP0002254_reproductive_system_inflammat0.86861768
86MP0005164_abnormal_response_to0.85384177
87MP0004130_abnormal_muscle_cell0.85246467
88MP0002277_abnormal_respiratory_mucosa0.82671547
89MP0000249_abnormal_blood_vessel0.82203658
90MP0005647_abnormal_sex_gland0.80204156
91MP0009763_increased_sensitivity_to0.79563142
92MP0000371_diluted_coat_color0.79446170
93MP0002006_tumorigenesis0.79420181
94MP0005197_abnormal_uvea_morphology0.79382641
95MP0004883_abnormal_blood_vessel0.78513926
96MP0003705_abnormal_hypodermis_morpholog0.77519356
97MP0003632_abnormal_nervous_system0.75571884
98MP0000767_abnormal_smooth_muscle0.74515624
99MP0003795_abnormal_bone_structure0.73668487
100MP0001915_intracranial_hemorrhage0.72057831
101MP0003091_abnormal_cell_migration0.72002565
102MP0005595_abnormal_vascular_smooth0.71649337
103MP0010386_abnormal_urinary_bladder0.71581012
104MP0003879_abnormal_hair_cell0.71551320
105MP0004185_abnormal_adipocyte_glucose0.69350972
106MP0001663_abnormal_digestive_system0.65771242
107MP0001849_ear_inflammation0.64137066
108MP0005584_abnormal_enzyme/coenzyme_acti0.63049095
109MP0005076_abnormal_cell_differentiation0.63016829
110MP0002837_dystrophic_cardiac_calcinosis0.62694760
111MP0005083_abnormal_biliary_tract0.62194611
112MP0003633_abnormal_nervous_system0.62106191
113MP0002396_abnormal_hematopoietic_system0.61964201
114MP0003279_aneurysm0.61517815
115MP0004019_abnormal_vitamin_homeostasis0.61344930
116MP0002136_abnormal_kidney_physiology0.61234495
117MP0000609_abnormal_liver_physiology0.61190505
118MP0003186_abnormal_redox_activity0.60025349
119MP0008873_increased_physiological_sensi0.59464345
120MP0004782_abnormal_surfactant_physiolog0.59254701
121MP0008874_decreased_physiological_sensi0.58661089
122MP0005670_abnormal_white_adipose0.58095420
123MP0002896_abnormal_bone_mineralization0.57733313
124MP0008260_abnormal_autophagy0.57604212
125MP0003631_nervous_system_phenotype0.56899935

Predicted human phenotypes

RankGene SetZ-score
1Increased cerebral lipofuscin (HP:0011813)7.56225939
2Systemic lupus erythematosus (HP:0002725)7.27304196
3Increased neuronal autofluorescent lipopigment (HP:0002074)6.55975517
4Abnormality of liposaccharide metabolism (HP:0010968)6.48848486
5Abnormality of glycosphingolipid metabolism (HP:0004343)6.48848486
6Abnormality of glycolipid metabolism (HP:0010969)6.48848486
7Recurrent abscess formation (HP:0002722)6.47832145
8Vacuolated lymphocytes (HP:0001922)6.39983590
9Recurrent bacterial skin infections (HP:0005406)5.71962734
10Dysostosis multiplex (HP:0000943)5.63939035
11Glomerulonephritis (HP:0000099)5.55515385
12Eczematoid dermatitis (HP:0000976)5.19371407
13Recurrent gram-negative bacterial infections (HP:0005420)4.74368634
14Abnormality of macrophages (HP:0004311)4.69744448
15Urinary glycosaminoglycan excretion (HP:0003541)4.49558642
16Mucopolysacchariduria (HP:0008155)4.49558642
17Abnormality of mucopolysaccharide metabolism (HP:0011020)4.35689780
18Abnormality of polysaccharide metabolism (HP:0011012)4.35689780
19Abnormality of glycosaminoglycan metabolism (HP:0004371)4.35689780
20Complement deficiency (HP:0004431)3.95619720
21Nuclear cataract (HP:0100018)3.63531366
22Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.55240552
23Mutism (HP:0002300)3.51154454
24Loss of speech (HP:0002371)3.50154224
25Abnormality of complement system (HP:0005339)3.40625033
26Hepatosplenomegaly (HP:0001433)3.36870475
27Retinal atrophy (HP:0001105)3.34022697
28Recurrent skin infections (HP:0001581)3.27809582
29Gingivitis (HP:0000230)3.26454653
30Neuronal loss in central nervous system (HP:0002529)3.22321675
31Nephritis (HP:0000123)3.15290839
32Obstructive lung disease (HP:0006536)3.04023659
33Chronic obstructive pulmonary disease (HP:0006510)3.04023659
34Cerebral inclusion bodies (HP:0100314)3.03791766
35Mediastinal lymphadenopathy (HP:0100721)3.02355396
36Purpura (HP:0000979)2.99374510
37* Disinhibition (HP:0000734)2.97719539
38J-shaped sella turcica (HP:0002680)2.96650516
39Myocardial infarction (HP:0001658)2.96455478
40Autoimmune thrombocytopenia (HP:0001973)2.93893348
41Hematochezia (HP:0002573)2.90799026
42Myositis (HP:0100614)2.88184655
43Thoracic kyphosis (HP:0002942)2.67706632
44Abnormality of the vasculature of the conjunctiva (HP:0008054)2.60946766
45Apathy (HP:0000741)2.60439194
46Diminished motivation (HP:0000745)2.57914015
47Cerebral aneurysm (HP:0004944)2.57792860
48Asymmetric septal hypertrophy (HP:0001670)2.56920230
49Thick nail (HP:0001805)2.56097908
50Recurrent fungal infections (HP:0002841)2.52360701
51Arterial tortuosity (HP:0005116)2.49644295
52Metaphyseal irregularity (HP:0003025)2.47527285
53Prostate neoplasm (HP:0100787)2.47114896
54Progressive neurologic deterioration (HP:0002344)2.46684330
55Orchitis (HP:0100796)2.45683414
56Abnormality of the lumbar spine (HP:0100712)2.43583468
57Elevated erythrocyte sedimentation rate (HP:0003565)2.41232423
58Stomatitis (HP:0010280)2.35868691
59* Dementia (HP:0000726)2.35110760
60Pustule (HP:0200039)2.33753257
61Global brain atrophy (HP:0002283)2.33059854
62Conjunctival telangiectasia (HP:0000524)2.32738380
63Periodontitis (HP:0000704)2.31886815
64* Axonal loss (HP:0003447)2.28110080
65Abnormality of the periventricular white matter (HP:0002518)2.27023281
66Multiple enchondromatosis (HP:0005701)2.25707267
67Increased serum ferritin (HP:0003281)2.24754197
68Osteomyelitis (HP:0002754)2.23937125
69Prolonged neonatal jaundice (HP:0006579)2.23641761
70Increased CSF protein (HP:0002922)2.20095778
71Colitis (HP:0002583)2.19828567
72Cellulitis (HP:0100658)2.19207468
73Cardiomegaly (HP:0001640)2.18990381
74* Inappropriate behavior (HP:0000719)2.18502750
75Vascular tortuosity (HP:0004948)2.14805520
76Spondylolisthesis (HP:0003302)2.08407381
77Recurrent viral infections (HP:0004429)2.07655944
78Progressive visual loss (HP:0000529)2.06864954
79Supranuclear gaze palsy (HP:0000605)2.05867685
80Optic neuritis (HP:0100653)2.04505205
81Retrobulbar optic neuritis (HP:0100654)2.04505205
82Petechiae (HP:0000967)2.03508207
83Interstitial pulmonary disease (HP:0006530)2.02118459
84Xanthomatosis (HP:0000991)2.01496247
85Spontaneous hematomas (HP:0007420)2.00435147
86Urethral obstruction (HP:0000796)1.99855347
87Abnormality of the thoracic spine (HP:0100711)1.99735629
88Urticaria (HP:0001025)1.99448673
89Osteolytic defects of the hand bones (HP:0009699)1.96325629
90Osteolytic defects of the phalanges of the hand (HP:0009771)1.96325629
91Inflammation of the large intestine (HP:0002037)1.95704444
92Vasculitis (HP:0002633)1.95124330
93* Pathologic fracture (HP:0002756)1.94317980
94Protuberant abdomen (HP:0001538)1.93436052
95Vertebral compression fractures (HP:0002953)1.92889755
96Impaired platelet aggregation (HP:0003540)1.92280851
97Abnormal platelet function (HP:0011869)1.92280851
98Amyloidosis (HP:0011034)1.91152353
99* Peripheral demyelination (HP:0011096)1.90401061
100Pulmonary infiltrates (HP:0002113)1.89884414
101Polyneuropathy (HP:0001271)1.89841919
102Poor head control (HP:0002421)1.88520936
103Neurofibrillary tangles (HP:0002185)1.88494343
104Recurrent pneumonia (HP:0006532)1.85835015
105* Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.85785713
106Deformed sella turcica (HP:0002681)1.85074896
107Joint hemorrhage (HP:0005261)1.83512197
108Striae distensae (HP:0001065)1.82082661
109Leukocytosis (HP:0001974)1.81112010
110Ovoid vertebral bodies (HP:0003300)1.80838072
111* Basal ganglia calcification (HP:0002135)1.78344546
112Clumsiness (HP:0002312)1.77928360
113Abnormality of iron homeostasis (HP:0011031)1.77844481
114Gastrointestinal inflammation (HP:0004386)1.77708448
115Disproportionate tall stature (HP:0001519)1.76472405
116Premature loss of primary teeth (HP:0006323)1.74933154
117* Personality changes (HP:0000751)1.74523043
118Nausea (HP:0002018)1.74203245
119Hypercholesterolemia (HP:0003124)1.74111014
120* Bone pain (HP:0002653)1.73151879
121Recurrent cutaneous fungal infections (HP:0011370)1.72646423
122Chronic mucocutaneous candidiasis (HP:0002728)1.71160009
123Hemoptysis (HP:0002105)1.69654667
124Esophageal neoplasm (HP:0100751)1.67597539
125Neoplasm of head and neck (HP:0012288)1.67597539
126T lymphocytopenia (HP:0005403)1.67205711
127Restrictive lung disease (HP:0002091)1.66652150
128* Upper motor neuron abnormality (HP:0002127)1.63802190
129Esophageal varix (HP:0002040)1.62822585
130Mucosal telangiectasiae (HP:0100579)1.59696032

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR25.06902317
2RIPK43.84281064
3BLK3.72345565
4KIT3.34337303
5TYK23.10819463
6CSF1R3.02825581
7TBK12.98042075
8IRAK42.78536681
9IRAK32.58236240
10ERN12.35533322
11CAMK1D2.32055879
12MAP3K142.24627475
13GRK72.24095391
14DDR22.09077871
15MAP4K11.99736144
16ACVR1B1.91167955
17FES1.82187476
18NEK91.81734705
19JAK11.74480658
20TAOK21.72969889
21HCK1.71726979
22CAMK1G1.67887784
23PKN21.63122002
24IKBKB1.62810890
25ZAP701.53208156
26PAK41.50247172
27CAMKK21.48843930
28MAP3K131.44570654
29CDC42BPA1.43176776
30SYK1.42939708
31TAOK31.39736536
32SCYL21.39620810
33IKBKE1.38442385
34NME21.36278749
35MAP2K31.33045441
36CSK1.31784219
37TRIB31.30795247
38LYN1.28998730
39TESK21.28181528
40TAOK11.25517134
41FGR1.25314548
42JAK21.24560818
43PRPF4B1.23948617
44LCK1.17187311
45STK101.15561839
46MAPK151.13584002
47CLK11.11244663
48TXK1.10356508
49JAK31.09917749
50MATK1.07678401
51TESK11.07242786
52MOS1.06952660
53EPHB11.06892816
54LIMK11.03368224
55SIK21.01164404
56CAMKK10.99506229
57MAP3K30.99249312
58BTK0.96943439
59PBK0.95409221
60PTK60.88984916
61TTN0.85758029
62ITK0.85265484
63MAP3K10.85193865
64CDK60.83344322
65EGFR0.83040464
66TGFBR10.82793660
67MAP3K50.74934659
68PIM20.69871221
69TRPM70.67583667
70RIPK10.66886007
71ABL10.65245656
72PRKCD0.64245196
73MARK30.64157412
74MAPK120.63891214
75PDK10.63088419
76MAP2K60.62208510
77CHUK0.60373310
78TEC0.59397488
79RPS6KA40.59377887
80PDPK10.59297161
81EPHB20.56086443
82ABL20.53608391
83FYN0.51426874
84ADRBK20.49972527
85YES10.49745952
86IGF1R0.49605172
87RPS6KC10.49244239
88RPS6KL10.49244239
89MAPK40.46472766
90MAP3K90.45106541
91MAP3K110.43579257
92TNK20.43184746
93MAPK70.40521964
94TYRO30.40125881
95PDK20.39737654
96BMX0.38101516
97STK40.37912596
98PDGFRA0.37885741
99MAPKAPK20.37877124
100CAMK40.37856802
101PIK3CG0.36168080
102PRKG20.36112144
103PIM10.34846943
104GSK3A0.33731126
105RPS6KA20.33057563
106IRAK20.32436361
107DAPK20.31602507
108ICK0.31274993
109EIF2AK20.30917344
110KSR20.30449805
111ARAF0.29992762
112MAP3K80.29364888
113SRC0.29042725
114SIK30.28712899
115INSR0.28551930
116RPS6KA60.28063989
117DAPK30.27897877
118LRRK20.27767983
119PDGFRB0.27419246
120PAK20.27173903
121MARK20.27109110
122FGFR30.26852068
123BMPR20.26378291
124PRKCH0.25674307
125STK30.25538559
126IRAK10.25031048
127PKN10.21146510

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan degradation_Homo sapiens_hsa005314.68402528
2Staphylococcus aureus infection_Homo sapiens_hsa051504.29764409
3Lysosome_Homo sapiens_hsa041424.08521963
4Other glycan degradation_Homo sapiens_hsa005113.87451121
5Leishmaniasis_Homo sapiens_hsa051402.75567493
6* Osteoclast differentiation_Homo sapiens_hsa043802.52098721
7Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.50442123
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.43909378
9Pertussis_Homo sapiens_hsa051332.29341737
10Tuberculosis_Homo sapiens_hsa051522.23618105
11Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.19233841
12Phagosome_Homo sapiens_hsa041452.18905965
13Autoimmune thyroid disease_Homo sapiens_hsa053201.90150207
14B cell receptor signaling pathway_Homo sapiens_hsa046621.88836129
15Rheumatoid arthritis_Homo sapiens_hsa053231.88794184
16Legionellosis_Homo sapiens_hsa051341.78764399
17Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.75935005
18Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.71121438
19Malaria_Homo sapiens_hsa051441.70652011
20Antigen processing and presentation_Homo sapiens_hsa046121.68334713
21NF-kappa B signaling pathway_Homo sapiens_hsa040641.56414783
22Measles_Homo sapiens_hsa051621.44604183
23Salmonella infection_Homo sapiens_hsa051321.40348564
24Complement and coagulation cascades_Homo sapiens_hsa046101.38248862
25Prion diseases_Homo sapiens_hsa050201.36827519
26Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.36570328
27Toxoplasmosis_Homo sapiens_hsa051451.33307057
28Collecting duct acid secretion_Homo sapiens_hsa049661.29394551
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.28106393
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.26142309
31Influenza A_Homo sapiens_hsa051641.24988791
32Apoptosis_Homo sapiens_hsa042101.22101020
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.21440486
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.19288948
35Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.15841235
36Chemokine signaling pathway_Homo sapiens_hsa040621.11708968
37Hematopoietic cell lineage_Homo sapiens_hsa046401.08467994
38RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.06259778
39Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.03455475
40Graft-versus-host disease_Homo sapiens_hsa053320.99469573
41Shigellosis_Homo sapiens_hsa051310.98563409
42TNF signaling pathway_Homo sapiens_hsa046680.95828153
43Sphingolipid metabolism_Homo sapiens_hsa006000.95037711
44Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.93615189
45Primary bile acid biosynthesis_Homo sapiens_hsa001200.88104544
46Chronic myeloid leukemia_Homo sapiens_hsa052200.87070429
47Hepatitis B_Homo sapiens_hsa051610.86777104
48Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.86276317
49Endocytosis_Homo sapiens_hsa041440.85754227
50Galactose metabolism_Homo sapiens_hsa000520.85564299
51Intestinal immune network for IgA production_Homo sapiens_hsa046720.84391880
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.83606710
53Pancreatic cancer_Homo sapiens_hsa052120.83187729
54Leukocyte transendothelial migration_Homo sapiens_hsa046700.82001462
55Asthma_Homo sapiens_hsa053100.81223666
56Caffeine metabolism_Homo sapiens_hsa002320.79771858
57Jak-STAT signaling pathway_Homo sapiens_hsa046300.76051342
58Amoebiasis_Homo sapiens_hsa051460.75726511
59Platelet activation_Homo sapiens_hsa046110.73410459
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.72437347
61Allograft rejection_Homo sapiens_hsa053300.69894057
62PPAR signaling pathway_Homo sapiens_hsa033200.67675575
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.67466656
64Herpes simplex infection_Homo sapiens_hsa051680.65685140
65Hepatitis C_Homo sapiens_hsa051600.64714624
66African trypanosomiasis_Homo sapiens_hsa051430.64498848
67Neurotrophin signaling pathway_Homo sapiens_hsa047220.62332123
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.57911356
69Bladder cancer_Homo sapiens_hsa052190.57527010
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57213781
71Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55361767
72Viral myocarditis_Homo sapiens_hsa054160.55067417
73Acute myeloid leukemia_Homo sapiens_hsa052210.54226638
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54058422
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.53865278
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52637677
77Sulfur metabolism_Homo sapiens_hsa009200.52514648
78T cell receptor signaling pathway_Homo sapiens_hsa046600.52460857
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52319326
80Mineral absorption_Homo sapiens_hsa049780.50292339
81Renin-angiotensin system_Homo sapiens_hsa046140.49853309
82Vibrio cholerae infection_Homo sapiens_hsa051100.48469662
83Type II diabetes mellitus_Homo sapiens_hsa049300.46258047
84Systemic lupus erythematosus_Homo sapiens_hsa053220.44589595
85Renal cell carcinoma_Homo sapiens_hsa052110.43523779
86HIF-1 signaling pathway_Homo sapiens_hsa040660.41655176
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40192425
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37708597
89Phospholipase D signaling pathway_Homo sapiens_hsa040720.36906671
90Notch signaling pathway_Homo sapiens_hsa043300.36076068
91Synaptic vesicle cycle_Homo sapiens_hsa047210.36008977
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35630814
93VEGF signaling pathway_Homo sapiens_hsa043700.35560315
94Proteoglycans in cancer_Homo sapiens_hsa052050.34268227
95Glutathione metabolism_Homo sapiens_hsa004800.34029489
96Fructose and mannose metabolism_Homo sapiens_hsa000510.33681348
97Colorectal cancer_Homo sapiens_hsa052100.30693820
98ABC transporters_Homo sapiens_hsa020100.29749863
99Steroid biosynthesis_Homo sapiens_hsa001000.29442073
100Primary immunodeficiency_Homo sapiens_hsa053400.27739608
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.27737361
102Prolactin signaling pathway_Homo sapiens_hsa049170.27178379
103Glioma_Homo sapiens_hsa052140.25345455
104Non-small cell lung cancer_Homo sapiens_hsa052230.24836950
105Transcriptional misregulation in cancer_Homo sapiens_hsa052020.24067302
106Epstein-Barr virus infection_Homo sapiens_hsa051690.23805308
107Phosphatidylinositol signaling system_Homo sapiens_hsa040700.22808149
108Ether lipid metabolism_Homo sapiens_hsa005650.22796943
109Pentose phosphate pathway_Homo sapiens_hsa000300.22221887
110Inositol phosphate metabolism_Homo sapiens_hsa005620.21111866
111GnRH signaling pathway_Homo sapiens_hsa049120.20629916
112Type I diabetes mellitus_Homo sapiens_hsa049400.20445189
113mTOR signaling pathway_Homo sapiens_hsa041500.18587378
114Viral carcinogenesis_Homo sapiens_hsa052030.18421891
115Insulin resistance_Homo sapiens_hsa049310.18138252
116HTLV-I infection_Homo sapiens_hsa051660.17573259
117Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.13294640
118Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.12040301

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