HBB

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: The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* oxygen transport (GO:0015671)6.37948658
2negative regulation of cell killing (GO:0031342)5.82235134
3negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.82235134
4positive regulation of gamma-delta T cell activation (GO:0046645)5.62441384
5neutrophil activation involved in immune response (GO:0002283)5.53961736
6positive regulation by symbiont of host defense response (GO:0052509)5.47723117
7modulation by symbiont of host defense response (GO:0052031)5.47723117
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.47723117
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.47723117
10positive regulation by organism of defense response of other organism involved in symbiotic interact5.47723117
11modulation by symbiont of host immune response (GO:0052553)5.47723117
12detection of other organism (GO:0098543)5.44271005
13detection of bacterium (GO:0016045)5.39448499
14* gas transport (GO:0015669)5.25188155
15response to peptidoglycan (GO:0032494)5.20813931
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.10531718
17antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.83010029
18antigen processing and presentation of endogenous antigen (GO:0019883)4.69230969
19neutrophil activation (GO:0042119)4.68585445
20regulation of B cell receptor signaling pathway (GO:0050855)4.64798465
21macrophage activation involved in immune response (GO:0002281)4.49464248
22cellular extravasation (GO:0045123)4.46603586
23detection of external biotic stimulus (GO:0098581)4.42831824
24antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.27511445
25negative regulation of erythrocyte differentiation (GO:0045647)4.23998198
26granulocyte activation (GO:0036230)4.23217752
27negative regulation of lymphocyte mediated immunity (GO:0002707)4.18800023
28protoporphyrinogen IX metabolic process (GO:0046501)4.15137352
29respiratory burst (GO:0045730)4.13900857
30leukocyte aggregation (GO:0070486)4.13567274
31leukocyte migration involved in inflammatory response (GO:0002523)4.06967434
32response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.05511609
33response to host immune response (GO:0052572)4.05511609
34response to interleukin-15 (GO:0070672)4.02028878
35microglial cell activation (GO:0001774)4.00669018
36hemoglobin metabolic process (GO:0020027)3.98593545
37negative regulation of interleukin-12 production (GO:0032695)3.98545708
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.94437556
39regulation of gamma-delta T cell activation (GO:0046643)3.92981259
40neutrophil mediated immunity (GO:0002446)3.91564405
41detection of biotic stimulus (GO:0009595)3.81842246
42detection of molecule of bacterial origin (GO:0032490)3.80390174
43regulation of mast cell degranulation (GO:0043304)3.73885237
44response to host (GO:0075136)3.72978223
45response to host defenses (GO:0052200)3.72978223
46response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.72978223
47negative regulation of leukocyte mediated immunity (GO:0002704)3.69077780
48negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.68912515
49positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.64870983
50cellular response to interleukin-15 (GO:0071350)3.63335241
51negative regulation of T cell mediated immunity (GO:0002710)3.60268859
52positive regulation of granulocyte differentiation (GO:0030854)3.54391341
53myeloid cell activation involved in immune response (GO:0002275)3.54131142
54regulation of gamma-delta T cell differentiation (GO:0045586)3.53428515
55regulation of myeloid leukocyte mediated immunity (GO:0002886)3.50984986
56regulation of interferon-beta biosynthetic process (GO:0045357)3.50501970
57immunoglobulin mediated immune response (GO:0016064)3.48582490
58regulation of mast cell activation involved in immune response (GO:0033006)3.43759720
59protoporphyrinogen IX biosynthetic process (GO:0006782)3.43149270
60negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.42834629
61positive regulation of B cell differentiation (GO:0045579)3.41043340
62macrophage activation (GO:0042116)3.40531170
63erythrocyte development (GO:0048821)3.40171034
64positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.39321486
65B cell receptor signaling pathway (GO:0050853)3.37792424
66regulation of B cell differentiation (GO:0045577)3.35587116
67negative regulation of phagocytosis (GO:0050765)3.35328110
68regulation of leukocyte degranulation (GO:0043300)3.35210737
69defense response to fungus (GO:0050832)3.34996943
70erythrocyte maturation (GO:0043249)3.34471551
71production of molecular mediator involved in inflammatory response (GO:0002532)3.32307223
72leukocyte degranulation (GO:0043299)3.30793184
73myeloid leukocyte mediated immunity (GO:0002444)3.27978345
74positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.26029659
75disruption of cells of other organism (GO:0044364)3.24111635
76killing of cells of other organism (GO:0031640)3.24111635
77myeloid cell development (GO:0061515)3.23767326
78type I interferon signaling pathway (GO:0060337)3.23617355
79cellular response to type I interferon (GO:0071357)3.23617355
80response to type I interferon (GO:0034340)3.22770408
81positive regulation of mast cell activation (GO:0033005)3.16908847
82response to muramyl dipeptide (GO:0032495)3.16074035
83regulation of mast cell activation (GO:0033003)3.13215393
84killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.10459860
85disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.10459860
86negative regulation of interleukin-6 production (GO:0032715)3.09042963
87positive thymic T cell selection (GO:0045059)3.08276107
88positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.05502421
89activated T cell proliferation (GO:0050798)3.04187465
90negative thymic T cell selection (GO:0045060)3.03293769
91negative regulation of T-helper cell differentiation (GO:0045623)2.99106058
92negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.99106058
93negative regulation of type 2 immune response (GO:0002829)2.96435080
94superoxide anion generation (GO:0042554)2.96320507
95regulation of regulated secretory pathway (GO:1903305)2.96221410
96regulation of tolerance induction (GO:0002643)2.95654931
97megakaryocyte development (GO:0035855)2.94763716
98organ or tissue specific immune response (GO:0002251)2.94163888
99negative T cell selection (GO:0043383)2.94037359
100response to fungus (GO:0009620)2.92268150

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.78193826
2MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.82977335
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.73341498
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.36660085
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.32288228
6GATA1_22025678_ChIP-Seq_K562_Human3.27702519
7VDR_21846776_ChIP-Seq_THP-1_Human3.16140194
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.05303689
9SCL_19346495_ChIP-Seq_HPC-7_Human3.03981886
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.03620814
11VDR_24763502_ChIP-Seq_THP-1_Human2.90715998
12MYB_21317192_ChIP-Seq_ERMYB_Mouse2.87336862
13IRF8_27001747_Chip-Seq_BMDM_Mouse2.79995725
14SPI1_23547873_ChIP-Seq_NB4_Human2.71777824
15GATA1_19941826_ChIP-Seq_K562_Human2.69165278
16NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.67692924
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.63537204
18MAF_26560356_Chip-Seq_TH1_Human2.55745990
19SPI1_23127762_ChIP-Seq_K562_Human2.53895184
20RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.52538782
21MYC_22102868_ChIP-Seq_BL_Human2.49681967
22RUNX_20019798_ChIP-Seq_JUKART_Human2.47031794
23IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.38779709
24RUNX1_22412390_ChIP-Seq_EML_Mouse2.37890118
25UTX_26944678_Chip-Seq_JUKART_Human2.35049506
26MYB_26560356_Chip-Seq_TH2_Human2.34694497
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.31590958
28STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.31169324
29TCF7_22412390_ChIP-Seq_EML_Mouse2.27937032
30FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.22154182
31E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.22138592
32GATA1_19941827_ChIP-Seq_MEL_Mouse2.20943686
33TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.20369023
34BRD4_27068464_Chip-Seq_AML-cells_Mouse2.18997196
35EGR1_19374776_ChIP-ChIP_THP-1_Human2.10989477
36MYB_26560356_Chip-Seq_TH1_Human2.09957209
37VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.09162684
38STAT4_19710469_ChIP-ChIP_TH1__Mouse2.07606413
39KDM2B_26808549_Chip-Seq_SUP-B15_Human2.01616160
40KDM2B_26808549_Chip-Seq_DND41_Human1.95234995
41KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.93996690
42NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.92975925
43MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.91464436
44MAF_26560356_Chip-Seq_TH2_Human1.85389530
45GATA2_19941826_ChIP-Seq_K562_Human1.83420824
46KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.74723344
47GATA1_22383799_ChIP-Seq_G1ME_Mouse1.72680924
48LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.71875941
49GATA3_27048872_Chip-Seq_THYMUS_Human1.67566139
50NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.65149818
51* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.58029878
52SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.57506668
53GATA2_22383799_ChIP-Seq_G1ME_Mouse1.57257114
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.55798609
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.53864782
56Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.51786747
57VDR_24787735_ChIP-Seq_THP-1_Human1.50148225
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.49823779
59SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.46846962
60CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.45784768
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.43001896
62ELK3_25401928_ChIP-Seq_HUVEC_Human1.42375520
63ELF1_17652178_ChIP-ChIP_JURKAT_Human1.42293260
64THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.41973326
65ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.38592133
66GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.36828274
67GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35155114
68KDM2B_26808549_Chip-Seq_JURKAT_Human1.31876180
69RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.30667736
70PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.30338020
71STAT6_21828071_ChIP-Seq_BEAS2B_Human1.29421502
72KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.28975821
73PU_27001747_Chip-Seq_BMDM_Mouse1.24907299
74CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24821470
75LXR_22292898_ChIP-Seq_THP-1_Human1.24542540
76NCOR1_26117541_ChIP-Seq_K562_Human1.21615999
77GATA3_26560356_Chip-Seq_TH2_Human1.21309775
78TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20791400
79PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.20717221
80CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18011090
81BCOR_27268052_Chip-Seq_Bcells_Human1.16968593
82BCL6_27268052_Chip-Seq_Bcells_Human1.16353074
83CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.14840361
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.13801294
85CTCF_27219007_Chip-Seq_ERYTHROID_Human1.11586895
86SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10554809
87PU.1_20513432_ChIP-Seq_Bcells_Mouse1.09071668
88RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05411127
89CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04521372
90TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.03665306
91RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.03148566
92GATA2_21666600_ChIP-Seq_HMVEC_Human1.02689200
93VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.99842262
94ELF1_20517297_ChIP-Seq_JURKAT_Human0.98801293
95STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.98604309
96SPI1_20517297_ChIP-Seq_HL60_Human0.92058704
97* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.90660604
98IKZF1_21737484_ChIP-ChIP_HCT116_Human0.89405668
99PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.88696409
100SA1_27219007_Chip-Seq_ERYTHROID_Human0.87867449

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.56834006
2MP0003436_decreased_susceptibility_to4.12826717
3MP0003303_peritoneal_inflammation3.93171757
4MP0003656_abnormal_erythrocyte_physiolo3.58887485
5MP0001835_abnormal_antigen_presentation3.26297020
6MP0002419_abnormal_innate_immunity3.08349561
7MP0005025_abnormal_response_to2.93226994
8MP0009785_altered_susceptibility_to2.86041617
9MP0000685_abnormal_immune_system2.74283747
10MP0001800_abnormal_humoral_immune2.64530671
11MP0005387_immune_system_phenotype2.58249303
12MP0001790_abnormal_immune_system2.58249303
13MP0005000_abnormal_immune_tolerance2.57058822
14MP0003191_abnormal_cellular_cholesterol2.52689919
15MP0002420_abnormal_adaptive_immunity2.46471978
16MP0004147_increased_porphyrin_level2.44295296
17MP0001819_abnormal_immune_cell2.43190675
18MP0005671_abnormal_response_to2.38860883
19MP0002723_abnormal_immune_serum2.34966856
20MP0005464_abnormal_platelet_physiology2.33517052
21MP0003763_abnormal_thymus_physiology2.30113954
22MP0002452_abnormal_antigen_presenting2.24508693
23MP0003300_gastrointestinal_ulcer2.21190562
24MP0009278_abnormal_bone_marrow2.20979189
25MP0002398_abnormal_bone_marrow2.19907049
26MP0002396_abnormal_hematopoietic_system2.18835314
27MP0005397_hematopoietic_system_phenotyp2.15604596
28MP0001545_abnormal_hematopoietic_system2.15604596
29MP0008260_abnormal_autophagy2.14688187
30MP0002132_abnormal_respiratory_system2.12641651
31MP0002405_respiratory_system_inflammati2.10199848
32MP0006082_CNS_inflammation2.04330201
33MP0005083_abnormal_biliary_tract1.99226147
34MP0001533_abnormal_skeleton_physiology1.98446700
35MP0000716_abnormal_immune_system1.89873107
36MP0002722_abnormal_immune_system1.83807686
37MP0002148_abnormal_hypersensitivity_rea1.83275098
38MP0000689_abnormal_spleen_morphology1.80767336
39MP0003172_abnormal_lysosome_physiology1.75625161
40MP0003828_pulmonary_edema1.71271644
41MP0009333_abnormal_splenocyte_physiolog1.66037322
42MP0002429_abnormal_blood_cell1.65889565
43MP0000703_abnormal_thymus_morphology1.64746380
44MP0000465_gastrointestinal_hemorrhage1.62296338
45MP0010155_abnormal_intestine_physiology1.61093263
46MP0001845_abnormal_inflammatory_respons1.58803929
47MP0003866_abnormal_defecation1.57390577
48MP0009764_decreased_sensitivity_to1.50556140
49MP0004947_skin_inflammation1.48540817
50MP0003183_abnormal_peptide_metabolism1.41397664
51MP0004381_abnormal_hair_follicle1.39135044
52MP0001851_eye_inflammation1.33367144
53* MP0008469_abnormal_protein_level1.27134660
54MP0000858_altered_metastatic_potential1.25033161
55MP0002277_abnormal_respiratory_mucosa1.22729779
56MP0004808_abnormal_hematopoietic_stem1.19356821
57MP0002166_altered_tumor_susceptibility1.18052263
58MP0004883_abnormal_blood_vessel1.15059557
59MP0005451_abnormal_body_composition1.11913942
60MP0005075_abnormal_melanosome_morpholog1.08025178
61MP0005310_abnormal_salivary_gland1.05793068
62MP0002998_abnormal_bone_remodeling0.97819383
63MP0003075_altered_response_to0.97611428
64MP0005164_abnormal_response_to0.96319942
65MP0009763_increased_sensitivity_to0.90992132
66MP0004510_myositis0.89560529
67MP0003878_abnormal_ear_physiology0.87418538
68MP0005377_hearing/vestibular/ear_phenot0.87418538
69MP0000490_abnormal_crypts_of0.86991390
70MP0003690_abnormal_glial_cell0.84591814
71MP0001663_abnormal_digestive_system0.84038646
72MP0000343_altered_response_to0.83538904
73MP0001986_abnormal_taste_sensitivity0.83526146
74MP0009765_abnormal_xenobiotic_induced0.79735431
75MP0004130_abnormal_muscle_cell0.78500997
76MP0005390_skeleton_phenotype0.76879275
77MP0000015_abnormal_ear_pigmentation0.75528055
78MP0001873_stomach_inflammation0.74168697
79MP0002009_preneoplasia0.72547778
80MP0005166_decreased_susceptibility_to0.70473045
81MP0005058_abnormal_lysosome_morphology0.70376333
82MP0003806_abnormal_nucleotide_metabolis0.67328087
83MP0003221_abnormal_cardiomyocyte_apopto0.66833506
84MP0001853_heart_inflammation0.63991624
85MP0005076_abnormal_cell_differentiation0.63700887
86MP0002019_abnormal_tumor_incidence0.61055609
87MP0008874_decreased_physiological_sensi0.61027185
88MP0003448_altered_tumor_morphology0.60944880
89* MP0003795_abnormal_bone_structure0.60156560
90MP0002006_tumorigenesis0.59735507
91MP0002138_abnormal_hepatobiliary_system0.55812382
92MP0002928_abnormal_bile_duct0.55510531
93MP0004185_abnormal_adipocyte_glucose0.55268705
94MP0008004_abnormal_stomach_pH0.54837364
95MP0002933_joint_inflammation0.53110561
96MP0002332_abnormal_exercise_endurance0.52716954
97* MP0009931_abnormal_skin_appearance0.51270797
98* MP0000609_abnormal_liver_physiology0.49160923
99MP0000604_amyloidosis0.48888047
100MP0003566_abnormal_cell_adhesion0.48771727

Predicted human phenotypes

RankGene SetZ-score
1* Abnormality of the heme biosynthetic pathway (HP:0010472)7.78915020
2Eczematoid dermatitis (HP:0000976)6.30843121
3* Hypochromic anemia (HP:0001931)6.24088643
4Recurrent abscess formation (HP:0002722)5.57412476
5Recurrent bacterial skin infections (HP:0005406)5.48122343
6Toxemia of pregnancy (HP:0100603)5.36769131
7* Microcytic anemia (HP:0001935)5.21013215
8Myositis (HP:0100614)4.87723373
9Abnormality of macrophages (HP:0004311)4.64826492
10Recurrent gram-negative bacterial infections (HP:0005420)4.61852797
11Orchitis (HP:0100796)4.35976863
12Stomatitis (HP:0010280)4.32362371
13* Abnormal hemoglobin (HP:0011902)4.30892811
14Prolonged bleeding time (HP:0003010)4.03566272
15Abnormal delayed hypersensitivity skin test (HP:0002963)4.03030499
16Chronic obstructive pulmonary disease (HP:0006510)3.99911683
17Obstructive lung disease (HP:0006536)3.99911683
18Gastrointestinal infarctions (HP:0005244)3.99292741
19Optic neuritis (HP:0100653)3.97643743
20Retrobulbar optic neuritis (HP:0100654)3.97643743
21Elevated erythrocyte sedimentation rate (HP:0003565)3.94946733
22Recurrent fungal infections (HP:0002841)3.81599594
23Poikilocytosis (HP:0004447)3.77727766
24Mediastinal lymphadenopathy (HP:0100721)3.72838757
25Meningitis (HP:0001287)3.64902025
26Recurrent skin infections (HP:0001581)3.59333720
27Spontaneous hematomas (HP:0007420)3.55951158
28Urticaria (HP:0001025)3.51951390
29* Polycythemia (HP:0001901)3.46641083
30Gingivitis (HP:0000230)3.38513494
31Increased IgE level (HP:0003212)3.35722347
32Encephalitis (HP:0002383)3.31261045
33Cellulitis (HP:0100658)3.26271310
34Keratoconjunctivitis sicca (HP:0001097)3.22167964
35Recurrent cutaneous fungal infections (HP:0011370)3.21948710
36Chronic mucocutaneous candidiasis (HP:0002728)3.21948710
37Epistaxis (HP:0000421)3.02560964
38Keratoconjunctivitis (HP:0001096)2.97116375
39Vasculitis (HP:0002633)2.95874366
40Gingival bleeding (HP:0000225)2.86333326
41Chest pain (HP:0100749)2.86203793
42Petechiae (HP:0000967)2.80651104
43Pustule (HP:0200039)2.76983429
44Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.72433717
45Episodic fever (HP:0001954)2.70990853
46Panhypogammaglobulinemia (HP:0003139)2.65382999
47Inflammation of the large intestine (HP:0002037)2.64340313
48Abnormality of the pericardium (HP:0001697)2.60830737
49Anorexia (HP:0002039)2.57697194
50Recurrent viral infections (HP:0004429)2.57423466
51Gastrointestinal inflammation (HP:0004386)2.55715434
52Leukocytosis (HP:0001974)2.54477358
53Peritonitis (HP:0002586)2.46412791
54T lymphocytopenia (HP:0005403)2.45837649
55Pulmonary infiltrates (HP:0002113)2.43292605
56Abnormality of T cells (HP:0002843)2.42661222
57Granulocytopenia (HP:0001913)2.42179625
58Abnormality of T cell number (HP:0011839)2.41060930
59Reticulocytosis (HP:0001923)2.39927208
60Hemoptysis (HP:0002105)2.39665285
61* Osteomyelitis (HP:0002754)2.35566449
62Abnormal platelet volume (HP:0011876)2.35480189
63Abnormality of T cell physiology (HP:0011840)2.34512799
64Increased IgM level (HP:0003496)2.31047706
65Arterial thrombosis (HP:0004420)2.27891012
66Slow saccadic eye movements (HP:0000514)2.27081844
67Abnormality of the fingertips (HP:0001211)2.22212569
68Pulmonary embolism (HP:0002204)2.18238806
69Acanthocytosis (HP:0001927)2.14581169
70Increased serum ferritin (HP:0003281)2.14480207
71Sepsis (HP:0100806)2.14341318
72Paralysis (HP:0003470)2.14258875
73Hypergammaglobulinemia (HP:0010702)2.01774634
74Amyloidosis (HP:0011034)2.01189197
75Abnormality of the pleura (HP:0002103)2.00307890
76* Hypochromic microcytic anemia (HP:0004840)10.2046202
77Colitis (HP:0002583)1.99947927
78Hepatosplenomegaly (HP:0001433)1.97416408
79Abnormality of the peritoneum (HP:0002585)1.96521745
80Agammaglobulinemia (HP:0004432)1.94682067
81Bruising susceptibility (HP:0000978)1.90440090
82Lymphopenia (HP:0001888)1.89434803
83Viral hepatitis (HP:0006562)1.89385183
84Eosinophilia (HP:0001880)1.88051057
85Purpura (HP:0000979)1.87624734
86Skin rash (HP:0000988)1.87421334
87* Skin ulcer (HP:0200042)1.86178254
88* Abnormality of iron homeostasis (HP:0011031)1.86164440
89Glomerulopathy (HP:0100820)1.86131222
90Metaphyseal cupping (HP:0003021)1.85527140
91Autoimmune hemolytic anemia (HP:0001890)1.83708932
92Autoimmune thrombocytopenia (HP:0001973)1.80698788
93Abnormality of cells of the lymphoid lineage (HP:0012140)1.79652688
94Cutaneous photosensitivity (HP:0000992)1.78766513
95Vertigo (HP:0002321)1.77932578
96* Splenomegaly (HP:0001744)1.77795078
97Papilledema (HP:0001085)1.77276077
98Aplasia/Hypoplasia of the earlobes (HP:0009906)1.75450451
99Difficulty running (HP:0009046)1.74738629
100IgM deficiency (HP:0002850)1.72229276

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.61485443
2MAP2K33.79320820
3MAP4K13.37697860
4PRPF4B3.19087267
5IRAK42.88461558
6GRK62.85568874
7BLK2.84162159
8TNK22.69206371
9ERN12.64032165
10FES2.59330994
11TAOK12.54071821
12TYK22.44322086
13MAP3K32.22385193
14CSK2.20845632
15MAP3K112.14815714
16ZAP702.12544030
17BTK1.93859321
18SYK1.84569476
19EPHB11.81223385
20FGR1.71035065
21HCK1.70238135
22TAOK21.57052689
23TXK1.55754177
24JAK31.40344527
25JAK21.38939376
26LYN1.38830281
27MAP3K11.36293348
28IKBKE1.34838655
29SIK31.34155511
30MARK31.31595391
31KSR21.19013171
32YES11.18459978
33TEC1.15233130
34MAP3K131.11922440
35TBK11.07762576
36MAP3K61.06726804
37LCK1.06005777
38KIT1.04946867
39JAK11.04338188
40MARK21.04099056
41TRIB31.03730832
42TAOK31.01068795
43PTK2B1.00716982
44MAP3K141.00383015
45ITK0.99981557
46CSF1R0.92719909
47EIF2AK10.92289677
48SIK20.91355950
49PTK60.87439680
50PRKD20.86090665
51HIPK20.84106418
52PIM10.79035024
53MAP3K50.78343827
54SMG10.76488621
55MAP2K40.75878274
56STK110.75338182
57PDK10.75234114
58STK100.74766269
59CDK190.73902002
60DYRK1B0.69618372
61BMX0.68186762
62MAP3K70.67579982
63MAPK120.67164459
64PDPK10.65499025
65IKBKB0.65152008
66SGK30.63806311
67TESK20.63400111
68MATK0.62273154
69FYN0.61703439
70IRAK10.61144532
71LRRK20.57872346
72WNK10.56642080
73RPS6KL10.54340081
74RPS6KC10.54340081
75PRKCQ0.54144758
76MAP3K100.52919052
77CDK120.52563800
78BMPR20.51693863
79DYRK30.50569908
80MAP3K20.49976991
81KSR10.49568491
82RET0.48720144
83PIK3CG0.47822456
84IRAK20.46966587
85RAF10.46564686
86SIK10.46177917
87SGK20.45732408
88RPS6KA60.45477745
89FGFR30.42092568
90MAPK70.41114311
91STK380.40719966
92CDC42BPA0.40001744
93CLK10.38923609
94TGFBR20.38792709
95MAPKAPK20.37651375
96MAP2K60.37464710
97CDK40.36037190
98EPHA30.34667168
99MAP3K80.33882623
100CDK60.33843708

Predicted pathways (KEGG)

RankGene SetZ-score
1* Malaria_Homo sapiens_hsa051442.99050014
2Osteoclast differentiation_Homo sapiens_hsa043802.96978604
3Leishmaniasis_Homo sapiens_hsa051402.81123715
4Staphylococcus aureus infection_Homo sapiens_hsa051502.44957491
5* African trypanosomiasis_Homo sapiens_hsa051432.29528236
6B cell receptor signaling pathway_Homo sapiens_hsa046622.25632243
7Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.25032855
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.24896693
9Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.14809668
10Tuberculosis_Homo sapiens_hsa051522.01150663
11Acute myeloid leukemia_Homo sapiens_hsa052212.00060968
12Primary immunodeficiency_Homo sapiens_hsa053401.96126208
13Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.87011578
14Measles_Homo sapiens_hsa051621.85339952
15Toll-like receptor signaling pathway_Homo sapiens_hsa046201.80788770
16Hematopoietic cell lineage_Homo sapiens_hsa046401.75899611
17Graft-versus-host disease_Homo sapiens_hsa053321.75148377
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.70549440
19Allograft rejection_Homo sapiens_hsa053301.70539774
20Chemokine signaling pathway_Homo sapiens_hsa040621.67059063
21T cell receptor signaling pathway_Homo sapiens_hsa046601.62210257
22Autoimmune thyroid disease_Homo sapiens_hsa053201.60324382
23Non-small cell lung cancer_Homo sapiens_hsa052231.56849788
24Influenza A_Homo sapiens_hsa051641.48348952
25Herpes simplex infection_Homo sapiens_hsa051681.46135309
26Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.44620504
27Jak-STAT signaling pathway_Homo sapiens_hsa046301.41873082
28Toxoplasmosis_Homo sapiens_hsa051451.41717939
29NF-kappa B signaling pathway_Homo sapiens_hsa040641.36369608
30Pancreatic cancer_Homo sapiens_hsa052121.33143570
31RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.31346412
32Platelet activation_Homo sapiens_hsa046111.30973910
33Leukocyte transendothelial migration_Homo sapiens_hsa046701.30929688
34Chronic myeloid leukemia_Homo sapiens_hsa052201.29247766
35Asthma_Homo sapiens_hsa053101.27944068
36Hepatitis B_Homo sapiens_hsa051611.25272997
37Phagosome_Homo sapiens_hsa041451.24040633
38Antigen processing and presentation_Homo sapiens_hsa046121.22240899
39Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.22204177
40Hepatitis C_Homo sapiens_hsa051601.20249957
41Legionellosis_Homo sapiens_hsa051341.19357899
42TNF signaling pathway_Homo sapiens_hsa046681.16487470
43Type I diabetes mellitus_Homo sapiens_hsa049401.15640327
44Viral myocarditis_Homo sapiens_hsa054161.03827845
45Renal cell carcinoma_Homo sapiens_hsa052111.00362084
46Apoptosis_Homo sapiens_hsa042100.98293695
47VEGF signaling pathway_Homo sapiens_hsa043700.98081633
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91948514
49Other glycan degradation_Homo sapiens_hsa005110.91357977
50FoxO signaling pathway_Homo sapiens_hsa040680.90750264
51Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89957059
52Regulation of autophagy_Homo sapiens_hsa041400.86887958
53Shigellosis_Homo sapiens_hsa051310.86608241
54Prolactin signaling pathway_Homo sapiens_hsa049170.84274295
55Neurotrophin signaling pathway_Homo sapiens_hsa047220.83480258
56Adipocytokine signaling pathway_Homo sapiens_hsa049200.82854492
57Endocytosis_Homo sapiens_hsa041440.82750598
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82623670
59Endometrial cancer_Homo sapiens_hsa052130.81648753
60Intestinal immune network for IgA production_Homo sapiens_hsa046720.80300764
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79554628
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.77028443
63Viral carcinogenesis_Homo sapiens_hsa052030.76111208
64Choline metabolism in cancer_Homo sapiens_hsa052310.75768764
65Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75574131
66Pertussis_Homo sapiens_hsa051330.75293325
67Salmonella infection_Homo sapiens_hsa051320.74874209
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.74521252
69Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.74221895
70AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73415977
71Notch signaling pathway_Homo sapiens_hsa043300.72885846
72Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71929654
73Transcriptional misregulation in cancer_Homo sapiens_hsa052020.71587635
74Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.70705957
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.68378533
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.67573461
77Epstein-Barr virus infection_Homo sapiens_hsa051690.67342761
78Colorectal cancer_Homo sapiens_hsa052100.64692954
79Inositol phosphate metabolism_Homo sapiens_hsa005620.63654234
80mTOR signaling pathway_Homo sapiens_hsa041500.63473179
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63455585
82HIF-1 signaling pathway_Homo sapiens_hsa040660.62978753
83GnRH signaling pathway_Homo sapiens_hsa049120.62966674
84Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62129377
85HTLV-I infection_Homo sapiens_hsa051660.59197564
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58130068
87Type II diabetes mellitus_Homo sapiens_hsa049300.55474656
88Amoebiasis_Homo sapiens_hsa051460.54899126
89Insulin resistance_Homo sapiens_hsa049310.54129044
90Collecting duct acid secretion_Homo sapiens_hsa049660.53347443
91Dorso-ventral axis formation_Homo sapiens_hsa043200.52567567
92Rheumatoid arthritis_Homo sapiens_hsa053230.50353313
93Prostate cancer_Homo sapiens_hsa052150.49462029
94MAPK signaling pathway_Homo sapiens_hsa040100.48295962
95Glioma_Homo sapiens_hsa052140.47570345
96Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45668489
97Rap1 signaling pathway_Homo sapiens_hsa040150.44924332
98Thyroid cancer_Homo sapiens_hsa052160.43012129
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42923747
100ErbB signaling pathway_Homo sapiens_hsa040120.41579080

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