HLA-DRB1

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: HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* immunoglobulin mediated immune response (GO:0016064)5.82625779
2antigen processing and presentation of endogenous antigen (GO:0019883)5.53589799
3positive regulation of gamma-delta T cell activation (GO:0046645)5.13036074
4regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.87932076
5antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.80089423
6* interferon-gamma-mediated signaling pathway (GO:0060333)4.76420064
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.74529623
8regulation of antigen processing and presentation (GO:0002577)4.70804595
9regulation of dendritic cell antigen processing and presentation (GO:0002604)4.58993600
10antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.58414207
11positive regulation of antigen processing and presentation (GO:0002579)4.55460557
12* B cell mediated immunity (GO:0019724)4.44847196
13negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.37187180
14negative regulation of cell killing (GO:0031342)4.37187180
15modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.37060135
16positive regulation by organism of defense response of other organism involved in symbiotic interact4.37060135
17modulation by symbiont of host immune response (GO:0052553)4.37060135
18positive regulation by symbiont of host defense response (GO:0052509)4.37060135
19modulation by symbiont of host defense response (GO:0052031)4.37060135
20modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.37060135
21response to peptidoglycan (GO:0032494)4.31946208
22macrophage activation involved in immune response (GO:0002281)4.17816534
23positive thymic T cell selection (GO:0045059)4.17032530
24neutrophil activation involved in immune response (GO:0002283)4.11866892
25negative regulation of interleukin-12 production (GO:0032695)3.95685616
26regulation of B cell receptor signaling pathway (GO:0050855)3.94153493
27cellular response to type I interferon (GO:0071357)3.87808275
28type I interferon signaling pathway (GO:0060337)3.87808275
29response to type I interferon (GO:0034340)3.84298731
30* cellular response to interferon-gamma (GO:0071346)3.72722436
31B cell receptor signaling pathway (GO:0050853)3.71976949
32regulation of gamma-delta T cell activation (GO:0046643)3.69668806
33* detection of other organism (GO:0098543)3.67739960
34regulation of interferon-beta biosynthetic process (GO:0045357)3.67352986
35* detection of bacterium (GO:0016045)3.61574915
36positive regulation of B cell differentiation (GO:0045579)3.58334565
37positive regulation of type 2 immune response (GO:0002830)3.58209997
38defense response to protozoan (GO:0042832)3.47727927
39NIK/NF-kappaB signaling (GO:0038061)3.43242859
40positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.41893881
41* response to interferon-gamma (GO:0034341)3.38817656
42response to protozoan (GO:0001562)3.36452654
43* T cell costimulation (GO:0031295)3.28977268
44myeloid dendritic cell activation (GO:0001773)3.27395011
45* lymphocyte costimulation (GO:0031294)3.23856479
46positive regulation of interferon-alpha production (GO:0032727)3.21092816
47regulation of interferon-alpha production (GO:0032647)3.21049790
48myeloid dendritic cell differentiation (GO:0043011)3.19606253
49regulation of mast cell degranulation (GO:0043304)3.19588452
50response to host immune response (GO:0052572)3.16788906
51response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.16788906
52myeloid cell activation involved in immune response (GO:0002275)3.16736997
53negative thymic T cell selection (GO:0045060)3.15826122
54response to muramyl dipeptide (GO:0032495)3.14261531
55positive regulation of mast cell activation (GO:0033005)3.13955056
56positive regulation of macrophage cytokine production (GO:0060907)3.13791197
57* detection of external biotic stimulus (GO:0098581)3.12338761
58germinal center formation (GO:0002467)3.12028383
59positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.11036793
60lipopolysaccharide-mediated signaling pathway (GO:0031663)3.07508143
61regulation of gamma-delta T cell differentiation (GO:0045586)3.06066460
62positive T cell selection (GO:0043368)3.05051807
63microglial cell activation (GO:0001774)3.02264852
64regulation of T-helper 1 cell differentiation (GO:0045625)3.01603618
65T cell migration (GO:0072678)3.00365514
66positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.96710449
67regulation of B cell differentiation (GO:0045577)2.95526110
68regulation of mast cell activation (GO:0033003)2.95428553
69cellular extravasation (GO:0045123)2.95145137
70detection of molecule of bacterial origin (GO:0032490)2.94550840
71regulation of mast cell activation involved in immune response (GO:0033006)2.92160765
72regulation of T cell tolerance induction (GO:0002664)2.91695214
73negative T cell selection (GO:0043383)2.91090113
74positive regulation of mast cell degranulation (GO:0043306)2.90690933
75positive regulation of mast cell activation involved in immune response (GO:0033008)2.90690933
76respiratory burst (GO:0045730)2.90145839
77response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.88601763
78response to host (GO:0075136)2.88601763
79response to host defenses (GO:0052200)2.88601763
80* T-helper 1 type immune response (GO:0042088)2.87552735
81regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.87507043
82positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.86182447
83T cell selection (GO:0045058)2.85802175
84macrophage activation (GO:0042116)2.85197693
85chaperone mediated protein folding requiring cofactor (GO:0051085)2.84868717
86regulation of type 2 immune response (GO:0002828)2.84024399
87positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.83680635
88regulation of alpha-beta T cell proliferation (GO:0046640)2.82788437
89regulation of tolerance induction (GO:0002643)2.82280915
90thymic T cell selection (GO:0045061)2.81901726
91* adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.80094474
92regulation of myeloid leukocyte mediated immunity (GO:0002886)2.78339147
93granulocyte activation (GO:0036230)2.78278342
94negative regulation of innate immune response (GO:0045824)2.75103598
95negative regulation of lymphocyte mediated immunity (GO:0002707)2.73106115
96* detection of biotic stimulus (GO:0009595)2.72938641
97regulation of leukocyte degranulation (GO:0043300)2.72935549
98regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.72913510
99neutrophil activation (GO:0042119)2.71966099
100regulation of interleukin-12 production (GO:0032655)2.71094734

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.32218625
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.51857495
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.62606371
4IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.94797288
5IRF8_27001747_Chip-Seq_BMDM_Mouse3.33401770
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.31123702
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.17886987
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.15183231
9STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.93872713
10SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.83622585
11NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.81745706
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.70122073
13FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.67639869
14RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.55886040
15VDR_21846776_ChIP-Seq_THP-1_Human2.53798037
16STAT4_19710469_ChIP-ChIP_TH1__Mouse2.46834618
17VDR_24763502_ChIP-Seq_THP-1_Human2.44978079
18SPI1_23547873_ChIP-Seq_NB4_Human2.39180379
19MYB_21317192_ChIP-Seq_ERMYB_Mouse2.32139989
20STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.31697036
21E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.20084886
22RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.17464750
23MYC_22102868_ChIP-Seq_BL_Human2.15615147
24SCL_19346495_ChIP-Seq_HPC-7_Human2.11547730
25MYB_26560356_Chip-Seq_TH2_Human2.11248113
26SPI1_23127762_ChIP-Seq_K562_Human2.07968081
27VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.07357160
28MAF_26560356_Chip-Seq_TH1_Human2.04256180
29RUNX_20019798_ChIP-Seq_JUKART_Human1.98730627
30BRD4_27068464_Chip-Seq_AML-cells_Mouse1.94384899
31Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.93280488
32EGR1_19374776_ChIP-ChIP_THP-1_Human1.90709354
33RUNX1_22412390_ChIP-Seq_EML_Mouse1.88510687
34MYB_26560356_Chip-Seq_TH1_Human1.77062692
35VDR_24787735_ChIP-Seq_THP-1_Human1.75114307
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.73105681
37UTX_26944678_Chip-Seq_JUKART_Human1.70089062
38FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.64635823
39MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.61091118
40LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.52899466
41LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.51025831
42SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.49826298
43KDM2B_26808549_Chip-Seq_SUP-B15_Human1.49477014
44LXR_22292898_ChIP-Seq_THP-1_Human1.48303195
45CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.47657398
46GATA3_27048872_Chip-Seq_THYMUS_Human1.43104233
47FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.42679976
48GATA1_22025678_ChIP-Seq_K562_Human1.42461913
49MAF_26560356_Chip-Seq_TH2_Human1.39846787
50SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.39686420
51TCF7_22412390_ChIP-Seq_EML_Mouse1.37945704
52GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.34627957
53PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.34159433
54PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.32032067
55CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31880217
56GATA1_19941827_ChIP-Seq_MEL_Mouse1.31098327
57STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.30356774
58GATA2_22383799_ChIP-Seq_G1ME_Mouse1.29404400
59BCL6_27268052_Chip-Seq_Bcells_Human1.28949822
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25824162
61ELF1_17652178_ChIP-ChIP_JURKAT_Human1.24505192
62NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.23051404
63TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.22584467
64NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.22328467
65* CIITA_25753668_ChIP-Seq_RAJI_Human1.22039371
66VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.21025371
67PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.20572609
68SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.18618916
69ELK3_25401928_ChIP-Seq_HUVEC_Human1.16888582
70BCOR_27268052_Chip-Seq_Bcells_Human1.16097240
71GATA1_22383799_ChIP-Seq_G1ME_Mouse1.16078277
72GATA3_26560356_Chip-Seq_TH2_Human1.15846768
73KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.15169539
74PU_27001747_Chip-Seq_BMDM_Mouse1.15022602
75CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13563095
76CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13496019
77KDM2B_26808549_Chip-Seq_DND41_Human1.12109974
78IKZF1_21737484_ChIP-ChIP_HCT116_Human1.10056226
79PU.1_20513432_ChIP-Seq_Bcells_Mouse1.09879450
80GATA1_19941826_ChIP-Seq_K562_Human1.07412418
81STAT1_20625510_ChIP-Seq_HELA_Human1.04999888
82ELF1_20517297_ChIP-Seq_JURKAT_Human1.03182510
83TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01334322
84PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99375061
85KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.98822206
86ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.97306477
87GATA2_21666600_ChIP-Seq_HMVEC_Human0.96737092
88TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91412167
89SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89458183
90PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.88726790
91SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88245385
92TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.88063896
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87834575
94SPI1_20517297_ChIP-Seq_HL60_Human0.83569266
95PPARA_22158963_ChIP-Seq_LIVER_Mouse0.83517057
96P300_27268052_Chip-Seq_Bcells_Human0.82617669
97GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82442002
98NCOR1_26117541_ChIP-Seq_K562_Human0.80340719
99SRY_22984422_ChIP-ChIP_TESTIS_Rat0.77191150
100CTCF_26484167_Chip-Seq_Bcells_Mouse0.76385447

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.42275197
2MP0003303_peritoneal_inflammation3.80869396
3MP0005671_abnormal_response_to3.59472521
4MP0003436_decreased_susceptibility_to3.45408462
5MP0001790_abnormal_immune_system3.31515315
6MP0005387_immune_system_phenotype3.31515315
7MP0003724_increased_susceptibility_to3.26073093
8MP0000685_abnormal_immune_system3.14147038
9MP0002148_abnormal_hypersensitivity_rea3.08278365
10MP0001800_abnormal_humoral_immune3.04861554
11MP0005000_abnormal_immune_tolerance3.03061616
12MP0009785_altered_susceptibility_to2.93349877
13MP0005025_abnormal_response_to2.81493465
14MP0002419_abnormal_innate_immunity2.78900423
15MP0002452_abnormal_antigen_presenting2.71969309
16MP0006082_CNS_inflammation2.71950287
17MP0002723_abnormal_immune_serum2.61908270
18MP0005058_abnormal_lysosome_morphology2.45876403
19MP0002420_abnormal_adaptive_immunity2.39774151
20MP0001819_abnormal_immune_cell2.38010586
21MP0010155_abnormal_intestine_physiology2.21382984
22MP0003300_gastrointestinal_ulcer2.10548489
23MP0009840_abnormal_foam_cell2.00393477
24MP0003172_abnormal_lysosome_physiology1.98342137
25MP0002138_abnormal_hepatobiliary_system1.95538343
26MP0001845_abnormal_inflammatory_respons1.91919257
27MP0003191_abnormal_cellular_cholesterol1.90088239
28MP0005464_abnormal_platelet_physiology1.86020064
29MP0003183_abnormal_peptide_metabolism1.84752849
30MP0002139_abnormal_hepatobiliary_system1.83171176
31MP0001533_abnormal_skeleton_physiology1.82908313
32MP0000716_abnormal_immune_system1.80857986
33MP0002405_respiratory_system_inflammati1.74791067
34MP0003763_abnormal_thymus_physiology1.71771144
35MP0002398_abnormal_bone_marrow1.70735506
36MP0004947_skin_inflammation1.70696174
37MP0009764_decreased_sensitivity_to1.66422340
38MP0003075_altered_response_to1.66015694
39MP0009333_abnormal_splenocyte_physiolog1.62355115
40MP0008469_abnormal_protein_level1.60406268
41MP0005310_abnormal_salivary_gland1.52146226
42MP0001853_heart_inflammation1.51567380
43MP0003806_abnormal_nucleotide_metabolis1.48356928
44MP0009278_abnormal_bone_marrow1.47468302
45MP0005166_decreased_susceptibility_to1.46736941
46MP0000689_abnormal_spleen_morphology1.45652008
47MP0002429_abnormal_blood_cell1.43201270
48MP0002166_altered_tumor_susceptibility1.41925819
49MP0000343_altered_response_to1.41076808
50MP0000604_amyloidosis1.40419737
51MP0005451_abnormal_body_composition1.33123341
52MP0005397_hematopoietic_system_phenotyp1.32550450
53MP0001545_abnormal_hematopoietic_system1.32550450
54MP0002998_abnormal_bone_remodeling1.32141868
55MP0000465_gastrointestinal_hemorrhage1.31431314
56MP0002722_abnormal_immune_system1.30695699
57MP0003866_abnormal_defecation1.26275351
58MP0000858_altered_metastatic_potential1.22474518
59MP0001873_stomach_inflammation1.19562400
60MP0004510_myositis1.17920448
61MP0008004_abnormal_stomach_pH1.07850646
62MP0003448_altered_tumor_morphology1.05441890
63MP0008260_abnormal_autophagy1.05057159
64MP0003828_pulmonary_edema1.02350669
65MP0002006_tumorigenesis1.00812920
66MP0001663_abnormal_digestive_system0.97842678
67MP0003690_abnormal_glial_cell0.96055638
68MP0009763_increased_sensitivity_to0.92144849
69MP0000490_abnormal_crypts_of0.86299721
70MP0000703_abnormal_thymus_morphology0.82318608
71MP0005360_urolithiasis0.81272535
72MP0000249_abnormal_blood_vessel0.80969526
73MP0005167_abnormal_blood-brain_barrier0.80081367
74MP0001851_eye_inflammation0.78704003
75MP0005165_increased_susceptibility_to0.77800438
76MP0004883_abnormal_blood_vessel0.75781758
77MP0005365_abnormal_bile_salt0.74690023
78MP0005390_skeleton_phenotype0.72509610
79MP0002933_joint_inflammation0.72167418
80MP0002132_abnormal_respiratory_system0.72028970
81MP0002396_abnormal_hematopoietic_system0.71645408
82MP0005164_abnormal_response_to0.70688218
83MP0002136_abnormal_kidney_physiology0.65377264
84MP0009765_abnormal_xenobiotic_induced0.65054705
85MP0000015_abnormal_ear_pigmentation0.63828946
86MP0009643_abnormal_urine_homeostasis0.63795422
87MP0003453_abnormal_keratinocyte_physiol0.63738010
88MP0000920_abnormal_myelination0.63359039
89MP0003795_abnormal_bone_structure0.61651866
90MP0008874_decreased_physiological_sensi0.60305330
91MP0003045_fibrosis0.60301068
92MP0002277_abnormal_respiratory_mucosa0.59969568
93MP0003091_abnormal_cell_migration0.59895856
94MP0004808_abnormal_hematopoietic_stem0.59601188
95MP0000609_abnormal_liver_physiology0.59377329
96MP0005319_abnormal_enzyme/_coenzyme0.58724371
97MP0005584_abnormal_enzyme/coenzyme_acti0.58568565
98MP0005381_digestive/alimentary_phenotyp0.57611319
99MP0003656_abnormal_erythrocyte_physiolo0.55957196
100MP0002254_reproductive_system_inflammat0.55382632

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)5.11484517
2Recurrent bacterial skin infections (HP:0005406)5.05630115
3Recurrent abscess formation (HP:0002722)4.86193624
4Abnormality of macrophages (HP:0004311)4.84755223
5Abnormality of glycolipid metabolism (HP:0010969)4.61859070
6Abnormality of liposaccharide metabolism (HP:0010968)4.61859070
7Abnormality of glycosphingolipid metabolism (HP:0004343)4.61859070
8Systemic lupus erythematosus (HP:0002725)4.58878123
9Agammaglobulinemia (HP:0004432)4.14521610
10* Meningitis (HP:0001287)3.91907220
11Myositis (HP:0100614)3.80351271
12Recurrent gram-negative bacterial infections (HP:0005420)3.79441415
13Vasculitis (HP:0002633)3.78904819
14Chronic obstructive pulmonary disease (HP:0006510)3.73496241
15Obstructive lung disease (HP:0006536)3.73496241
16Gastrointestinal stroma tumor (HP:0100723)3.66210953
17Recurrent fungal infections (HP:0002841)3.66047216
18* Mediastinal lymphadenopathy (HP:0100721)3.64424117
19Increased cerebral lipofuscin (HP:0011813)3.62405639
20Vacuolated lymphocytes (HP:0001922)3.61311475
21Orchitis (HP:0100796)3.59107578
22Recurrent skin infections (HP:0001581)3.56242116
23Elevated erythrocyte sedimentation rate (HP:0003565)3.52161573
24Chronic mucocutaneous candidiasis (HP:0002728)3.48741217
25Recurrent cutaneous fungal infections (HP:0011370)3.48741217
26Optic neuritis (HP:0100653)3.43882825
27Retrobulbar optic neuritis (HP:0100654)3.43882825
28Abnormal delayed hypersensitivity skin test (HP:0002963)3.40500213
29Recurrent viral infections (HP:0004429)3.36866775
30Cellulitis (HP:0100658)3.30890179
31Colitis (HP:0002583)3.24163424
32Recurrent sinusitis (HP:0011108)3.13456697
33Dysostosis multiplex (HP:0000943)3.09692242
34Increased neuronal autofluorescent lipopigment (HP:0002074)3.03262533
35Stomatitis (HP:0010280)3.01381584
36Panhypogammaglobulinemia (HP:0003139)3.00668658
37* Pulmonary infiltrates (HP:0002113)3.00472602
38Hemoptysis (HP:0002105)2.99600290
39Encephalitis (HP:0002383)2.99181832
40Loss of speech (HP:0002371)2.98704228
41Recurrent bronchitis (HP:0002837)2.96601144
42Increased IgE level (HP:0003212)2.91052911
43Autoimmune thrombocytopenia (HP:0001973)2.88778868
44Inflammation of the large intestine (HP:0002037)2.85164385
45Abnormality of the prostate (HP:0008775)2.84207110
46Restrictive lung disease (HP:0002091)2.82359097
47* Urticaria (HP:0001025)2.79068605
48Spontaneous hematomas (HP:0007420)2.76401358
49Chest pain (HP:0100749)2.74973726
50Gastrointestinal inflammation (HP:0004386)2.74780959
51Gastrointestinal infarctions (HP:0005244)2.72486953
52Gingivitis (HP:0000230)2.71606619
53Osteomyelitis (HP:0002754)2.67035431
54Glomerulonephritis (HP:0000099)2.66960412
55Chronic diarrhea (HP:0002028)2.65774017
56Increased IgM level (HP:0003496)2.65693552
57Recurrent pneumonia (HP:0006532)2.62547710
58Lymphopenia (HP:0001888)2.58486397
59Pustule (HP:0200039)2.57834277
60Purpura (HP:0000979)2.51351581
61Disinhibition (HP:0000734)2.49938748
62Keratoconjunctivitis sicca (HP:0001097)2.47893192
63Abnormality of cells of the lymphoid lineage (HP:0012140)2.46484000
64Chronic otitis media (HP:0000389)2.46451945
65Recurrent lower respiratory tract infections (HP:0002783)2.44029580
66Petechiae (HP:0000967)2.42571958
67Malnutrition (HP:0004395)2.41833067
68Hypergammaglobulinemia (HP:0010702)2.41633652
69IgM deficiency (HP:0002850)2.41556522
70Skin rash (HP:0000988)2.38730134
71Emphysema (HP:0002097)2.35201344
72Gangrene (HP:0100758)2.33345305
73Amyloidosis (HP:0011034)2.30875498
74Abnormality of T cells (HP:0002843)2.30121015
75Abnormality of mucopolysaccharide metabolism (HP:0011020)2.28531024
76Abnormality of polysaccharide metabolism (HP:0011012)2.28531024
77Abnormality of glycosaminoglycan metabolism (HP:0004371)2.28531024
78Keratoconjunctivitis (HP:0001096)2.26985908
79Abnormality of T cell number (HP:0011839)2.26472022
80Pulmonary embolism (HP:0002204)2.25540012
81Abnormality of T cell physiology (HP:0011840)2.25441709
82Premature loss of primary teeth (HP:0006323)2.24702435
83Hepatosplenomegaly (HP:0001433)2.22512318
84T lymphocytopenia (HP:0005403)2.22466664
85Mucopolysacchariduria (HP:0008155)2.19801970
86Urinary glycosaminoglycan excretion (HP:0003541)2.19801970
87IgA deficiency (HP:0002720)2.18067771
88Increased serum ferritin (HP:0003281)2.16677975
89Epistaxis (HP:0000421)2.16165227
90Polyneuropathy (HP:0001271)2.14710968
91Sepsis (HP:0100806)2.13141927
92Abnormality of B cell number (HP:0010975)2.12472326
93Mutism (HP:0002300)2.12324862
94Abnormality of the nasal mucosa (HP:0000433)2.10751939
95* Abnormality of the pleura (HP:0002103)2.10502549
96Arterial thrombosis (HP:0004420)2.08927830
97Complement deficiency (HP:0004431)2.06935420
98Verrucae (HP:0200043)2.06701062
99Papilloma (HP:0012740)2.06701062
100Autoimmune hemolytic anemia (HP:0001890)2.06594373

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.30980946
2MAP4K14.18664381
3BLK3.70415386
4ERN13.41667471
5TYK23.08439396
6MAP3K142.83293458
7TBK12.57612682
8IRAK42.40300489
9PRPF4B2.36150868
10KIT2.34334509
11CSF1R2.23512377
12SYK2.20168266
13IKBKE2.14182677
14JAK32.06554384
15CSK2.01956366
16BMPR22.00462290
17MAP3K131.88916096
18FES1.85211795
19IKBKB1.83416025
20BTK1.81104556
21TXK1.66186768
22MATK1.64464381
23LYN1.63979567
24ZAP701.62222529
25NME21.59700846
26JAK11.57310685
27IRAK31.50289413
28MAP2K31.46870620
29FGR1.41944086
30MAP3K111.39127571
31TAOK31.31844913
32GRK71.30427902
33HCK1.25754807
34TESK21.23495913
35TNK21.20472829
36SIK31.20268049
37LCK1.19683121
38MAP3K31.19312429
39CDC42BPA1.15448169
40ITK1.11121132
41JAK21.10325324
42TEC1.09995493
43GRK61.04936387
44TAOK21.02820624
45TGFBR20.98996861
46MAP3K10.94505624
47PRKCQ0.82452008
48ACVR1B0.80426684
49TAOK10.79781709
50KDR0.77535700
51SMG10.76843082
52CHUK0.76380170
53DDR20.74831516
54PDK10.74327936
55STK100.73863821
56SIK20.72083431
57FGFR40.71855084
58MARK30.70313302
59RIPK10.69783773
60NEK90.64633305
61PIM20.62766528
62CDK190.62395034
63PDPK10.62251916
64MAPK70.61976060
65MAPK120.60281880
66IRAK10.59425833
67PIM10.58577757
68MAPK110.58271408
69TLK10.53489630
70FGFR30.53405353
71FYN0.52217129
72EPHB10.51642446
73BCKDK0.50621410
74ABL10.48557886
75LRRK20.47158329
76HIPK20.46629042
77ARAF0.46565252
78MAP3K50.46452242
79MOS0.45803978
80CDK60.44650432
81PIK3CG0.42835093
82MAPKAPK20.42398970
83CDK40.41665506
84PRKCD0.41076642
85IRAK20.39105809
86RPS6KL10.39052202
87RPS6KC10.39052202
88MAPK40.37646845
89MAP2K60.37163052
90ADRBK20.34755530
91STK240.33435237
92EPHA30.32082447
93DAPK30.31358137
94RPS6KA60.30446778
95ABL20.29178465
96PRKG20.29006916
97MAP2K20.28292437
98MAP3K80.27520031
99EGFR0.27192782
100TRIB30.25452888

Predicted pathways (KEGG)

RankGene SetZ-score
1* Asthma_Homo sapiens_hsa053104.54274258
2* Allograft rejection_Homo sapiens_hsa053304.53033309
3* Autoimmune thyroid disease_Homo sapiens_hsa053204.18011371
4* Graft-versus-host disease_Homo sapiens_hsa053324.17151737
5* Intestinal immune network for IgA production_Homo sapiens_hsa046723.86294055
6* Staphylococcus aureus infection_Homo sapiens_hsa051503.65383688
7* Type I diabetes mellitus_Homo sapiens_hsa049403.47063808
8* Leishmaniasis_Homo sapiens_hsa051403.10453894
9* Antigen processing and presentation_Homo sapiens_hsa046122.81087382
10* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.77087346
11* Viral myocarditis_Homo sapiens_hsa054162.53354232
12* Rheumatoid arthritis_Homo sapiens_hsa053232.25687477
13Primary immunodeficiency_Homo sapiens_hsa053402.19463593
14* Tuberculosis_Homo sapiens_hsa051522.00800602
15Other glycan degradation_Homo sapiens_hsa005111.96261116
16Osteoclast differentiation_Homo sapiens_hsa043801.89995127
17B cell receptor signaling pathway_Homo sapiens_hsa046621.77930266
18* Hematopoietic cell lineage_Homo sapiens_hsa046401.71568289
19* Toxoplasmosis_Homo sapiens_hsa051451.70248025
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.65464596
21NF-kappa B signaling pathway_Homo sapiens_hsa040641.60629159
22* Influenza A_Homo sapiens_hsa051641.60556909
23* Herpes simplex infection_Homo sapiens_hsa051681.50490021
24* Phagosome_Homo sapiens_hsa041451.45815486
25* Systemic lupus erythematosus_Homo sapiens_hsa053221.43531234
26Lysosome_Homo sapiens_hsa041421.42326992
27Pertussis_Homo sapiens_hsa051331.22761791
28NOD-like receptor signaling pathway_Homo sapiens_hsa046211.12100954
29* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.08589008
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.06712645
31Measles_Homo sapiens_hsa051621.05724077
32Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.04590188
33Malaria_Homo sapiens_hsa051441.01863338
34Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.01673352
35TNF signaling pathway_Homo sapiens_hsa046680.95927240
36Legionellosis_Homo sapiens_hsa051340.95855861
37Chemokine signaling pathway_Homo sapiens_hsa040620.91763933
38Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.90349622
39Glycosaminoglycan degradation_Homo sapiens_hsa005310.88207749
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.80281425
41Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.79911612
42Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79602560
43Jak-STAT signaling pathway_Homo sapiens_hsa046300.78067189
44Salmonella infection_Homo sapiens_hsa051320.77222675
45African trypanosomiasis_Homo sapiens_hsa051430.75999073
46* Epstein-Barr virus infection_Homo sapiens_hsa051690.75089893
47T cell receptor signaling pathway_Homo sapiens_hsa046600.73303790
48Hepatitis C_Homo sapiens_hsa051600.71985923
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.71002174
50Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68566981
51Acute myeloid leukemia_Homo sapiens_hsa052210.62975444
52Apoptosis_Homo sapiens_hsa042100.61934207
53Hepatitis B_Homo sapiens_hsa051610.61011269
54Shigellosis_Homo sapiens_hsa051310.60436608
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.52130375
56* HTLV-I infection_Homo sapiens_hsa051660.51522257
57Renin-angiotensin system_Homo sapiens_hsa046140.46974816
58Platelet activation_Homo sapiens_hsa046110.44205737
59SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41704915
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.40646089
61Viral carcinogenesis_Homo sapiens_hsa052030.39825389
62Transcriptional misregulation in cancer_Homo sapiens_hsa052020.38784038
63Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35769853
64Complement and coagulation cascades_Homo sapiens_hsa046100.33575507
65Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.29247980
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.27098635
67Galactose metabolism_Homo sapiens_hsa000520.26442692
68Prolactin signaling pathway_Homo sapiens_hsa049170.26388572
69Fructose and mannose metabolism_Homo sapiens_hsa000510.26047575
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.25331806
71Arachidonic acid metabolism_Homo sapiens_hsa005900.25303384
72Cyanoamino acid metabolism_Homo sapiens_hsa004600.24504303
73Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23263195
74Amoebiasis_Homo sapiens_hsa051460.22824467
75Sphingolipid metabolism_Homo sapiens_hsa006000.22562425
76AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.22069410
77Vitamin digestion and absorption_Homo sapiens_hsa049770.21946826
78VEGF signaling pathway_Homo sapiens_hsa043700.19146647
79Collecting duct acid secretion_Homo sapiens_hsa049660.18746647
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.18194284
81Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.17963572
82Prion diseases_Homo sapiens_hsa050200.17409811
83Pancreatic cancer_Homo sapiens_hsa052120.17274162
84Mineral absorption_Homo sapiens_hsa049780.16932671
85Endocytosis_Homo sapiens_hsa041440.16876249
86PPAR signaling pathway_Homo sapiens_hsa033200.16017779
87Pentose phosphate pathway_Homo sapiens_hsa000300.14039723
88alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.13032454
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.12723941
90Non-small cell lung cancer_Homo sapiens_hsa052230.12486099
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.10045464
92HIF-1 signaling pathway_Homo sapiens_hsa040660.08457613
93Fat digestion and absorption_Homo sapiens_hsa049750.08070374
94Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.07714029
95Ether lipid metabolism_Homo sapiens_hsa005650.07482281
96Chronic myeloid leukemia_Homo sapiens_hsa052200.07257234
97Insulin resistance_Homo sapiens_hsa049310.06732288
98Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.06234478
99Bladder cancer_Homo sapiens_hsa052190.05814553
100Phospholipase D signaling pathway_Homo sapiens_hsa040720.04704068

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