HBA1

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 human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* oxygen transport (GO:0015671)7.72956230
2* gas transport (GO:0015669)6.33519158
3modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.74997258
4positive regulation by organism of defense response of other organism involved in symbiotic interact5.74997258
5modulation by symbiont of host immune response (GO:0052553)5.74997258
6positive regulation by symbiont of host defense response (GO:0052509)5.74997258
7modulation by symbiont of host defense response (GO:0052031)5.74997258
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.74997258
9neutrophil activation involved in immune response (GO:0002283)5.72478360
10negative regulation of cell killing (GO:0031342)5.57634452
11negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.57634452
12positive regulation of gamma-delta T cell activation (GO:0046645)5.32004968
13detection of other organism (GO:0098543)5.17332427
14detection of bacterium (GO:0016045)5.16899605
15response to peptidoglycan (GO:0032494)4.85801058
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.71300508
17neutrophil activation (GO:0042119)4.61501907
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.58068206
19regulation of B cell receptor signaling pathway (GO:0050855)4.56885063
20macrophage activation involved in immune response (GO:0002281)4.49279369
21antigen processing and presentation of endogenous antigen (GO:0019883)4.40365581
22detection of external biotic stimulus (GO:0098581)4.22069242
23respiratory burst (GO:0045730)4.20150975
24granulocyte activation (GO:0036230)4.19099674
25response to interleukin-15 (GO:0070672)4.19046591
26cellular extravasation (GO:0045123)4.16089859
27negative regulation of erythrocyte differentiation (GO:0045647)4.09247259
28negative regulation of lymphocyte mediated immunity (GO:0002707)4.09022891
29response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.06818593
30response to host immune response (GO:0052572)4.06818593
31positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.05058566
32antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.01986937
33leukocyte aggregation (GO:0070486)3.91818995
34negative regulation of phagocytosis (GO:0050765)3.91621676
35neutrophil mediated immunity (GO:0002446)3.91464227
36negative regulation of interleukin-12 production (GO:0032695)3.83623583
37cellular response to interleukin-15 (GO:0071350)3.83106304
38negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.79506211
39erythrocyte maturation (GO:0043249)3.73790458
40microglial cell activation (GO:0001774)3.73768006
41response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.73359155
42response to host (GO:0075136)3.73359155
43response to host defenses (GO:0052200)3.73359155
44regulation of gamma-delta T cell activation (GO:0046643)3.72119905
45leukocyte migration involved in inflammatory response (GO:0002523)3.71764179
46regulation of mast cell degranulation (GO:0043304)3.68787073
47protoporphyrinogen IX metabolic process (GO:0046501)3.67344033
48positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.64781549
49hemoglobin metabolic process (GO:0020027)3.64540022
50detection of molecule of bacterial origin (GO:0032490)3.64435700
51regulation of interferon-beta biosynthetic process (GO:0045357)3.62467348
52detection of biotic stimulus (GO:0009595)3.61804890
53negative regulation of leukocyte mediated immunity (GO:0002704)3.57717661
54myeloid cell activation involved in immune response (GO:0002275)3.53754420
55negative regulation of T cell mediated immunity (GO:0002710)3.51447020
56immunoglobulin mediated immune response (GO:0016064)3.51086423
57erythrocyte development (GO:0048821)3.46495500
58negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.41789641
59regulation of myeloid leukocyte mediated immunity (GO:0002886)3.40952058
60positive regulation of granulocyte differentiation (GO:0030854)3.40434906
61regulation of mast cell activation involved in immune response (GO:0033006)3.38129957
62production of molecular mediator involved in inflammatory response (GO:0002532)3.36028449
63leukocyte degranulation (GO:0043299)3.32443741
64macrophage activation (GO:0042116)3.31063514
65regulation of gamma-delta T cell differentiation (GO:0045586)3.30947212
66regulation of leukocyte degranulation (GO:0043300)3.26280353
67myeloid leukocyte mediated immunity (GO:0002444)3.23295444
68regulation of B cell differentiation (GO:0045577)3.19859333
69negative regulation of interleukin-6 production (GO:0032715)3.19612866
70B cell receptor signaling pathway (GO:0050853)3.18676062
71myeloid cell development (GO:0061515)3.17893910
72positive regulation of B cell differentiation (GO:0045579)3.15553295
73regulation of platelet aggregation (GO:0090330)3.15153585
74type I interferon signaling pathway (GO:0060337)3.14889263
75cellular response to type I interferon (GO:0071357)3.14889263
76response to type I interferon (GO:0034340)3.14631425
77tolerance induction (GO:0002507)3.14098732
78germinal center formation (GO:0002467)3.11618957
79positive regulation of mast cell activation (GO:0033005)3.08994210
80positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.06622574
81regulation of mast cell activation (GO:0033003)3.04664744
82positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.00095293
833-UTR-mediated mRNA stabilization (GO:0070935)2.98828073
84response to muramyl dipeptide (GO:0032495)2.98173544
85negative regulation of cytokine production involved in immune response (GO:0002719)2.94789102
86positive thymic T cell selection (GO:0045059)2.94041667
87regulation of T-helper 2 cell differentiation (GO:0045628)2.91447615
88regulation of T cell tolerance induction (GO:0002664)2.91110472
89negative regulation of T-helper cell differentiation (GO:0045623)2.91091479
90negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.91091479
91megakaryocyte development (GO:0035855)2.90091561
92disruption of cells of other organism involved in symbiotic interaction (GO:0051818)2.88575899
93killing of cells in other organism involved in symbiotic interaction (GO:0051883)2.88575899
94regulation of regulated secretory pathway (GO:1903305)2.88006804
95protoporphyrinogen IX biosynthetic process (GO:0006782)2.87542185
96regulation of granulocyte differentiation (GO:0030852)2.86095454
97negative regulation of type 2 immune response (GO:0002829)2.84345505
98negative thymic T cell selection (GO:0045060)2.83961472
99modulation by virus of host process (GO:0019054)2.82610691
100superoxide anion generation (GO:0042554)2.82028670

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.29637752
2MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.67372873
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.37182204
4GATA1_22025678_ChIP-Seq_K562_Human3.25814113
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.23895523
6VDR_21846776_ChIP-Seq_THP-1_Human3.13092918
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.11349821
8SCL_19346495_ChIP-Seq_HPC-7_Human2.96868589
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.84167505
10GATA1_19941826_ChIP-Seq_K562_Human2.78431830
11VDR_24763502_ChIP-Seq_THP-1_Human2.76519308
12MYB_21317192_ChIP-Seq_ERMYB_Mouse2.63966127
13SPI1_23127762_ChIP-Seq_K562_Human2.61657893
14RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.60261588
15FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.58102630
16SPI1_23547873_ChIP-Seq_NB4_Human2.58073507
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.56995362
18MYC_22102868_ChIP-Seq_BL_Human2.54633934
19MAF_26560356_Chip-Seq_TH1_Human2.54416052
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.53709578
21UTX_26944678_Chip-Seq_JUKART_Human2.38642453
22RUNX1_22412390_ChIP-Seq_EML_Mouse2.37824446
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.36273749
24TCF7_22412390_ChIP-Seq_EML_Mouse2.34664590
25RUNX_20019798_ChIP-Seq_JUKART_Human2.34550627
26E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.29321110
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.22959751
28GATA1_19941827_ChIP-Seq_MEL_Mouse2.19932802
29KDM2B_26808549_Chip-Seq_SUP-B15_Human2.19017211
30TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.17160195
31MYB_26560356_Chip-Seq_TH2_Human2.16163780
32IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.16052522
33KDM2B_26808549_Chip-Seq_DND41_Human2.09395714
34FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.08627046
35STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.07109090
36BRD4_27068464_Chip-Seq_AML-cells_Mouse2.07025339
37KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.02302444
38VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.00987311
39STAT4_19710469_ChIP-ChIP_TH1__Mouse1.99318190
40MYB_26560356_Chip-Seq_TH1_Human1.99208470
41MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.98890086
42NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.97047425
43MAF_26560356_Chip-Seq_TH2_Human1.90670696
44GATA2_19941826_ChIP-Seq_K562_Human1.86927876
45EGR1_19374776_ChIP-ChIP_THP-1_Human1.86715053
46KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.79581713
47LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.74328524
48THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73783901
49GATA1_22383799_ChIP-Seq_G1ME_Mouse1.72416396
50ELK3_25401928_ChIP-Seq_HUVEC_Human1.68515713
51GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.59102197
52GATA3_27048872_Chip-Seq_THYMUS_Human1.58657191
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.58552844
54STAT6_21828071_ChIP-Seq_BEAS2B_Human1.55248995
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.52567250
56GATA2_22383799_ChIP-Seq_G1ME_Mouse1.52219928
57LXR_22292898_ChIP-Seq_THP-1_Human1.49271417
58SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.49156369
59CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.47033998
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.46666932
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.45227395
62GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.42664983
63SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.40457842
64Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.39212911
65GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.39052651
66KDM2B_26808549_Chip-Seq_JURKAT_Human1.37957313
67NCOR1_26117541_ChIP-Seq_K562_Human1.37622672
68TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37265024
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.34224373
70PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.31110932
71VDR_24787735_ChIP-Seq_THP-1_Human1.30977734
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.30743285
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.30367345
74BCL6_27268052_Chip-Seq_Bcells_Human1.28571650
75ELF1_17652178_ChIP-ChIP_JURKAT_Human1.27691409
76CTCF_27219007_Chip-Seq_ERYTHROID_Human1.27481256
77KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.23965521
78PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.23618534
79STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.23579115
80ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.22038139
81* BCOR_27268052_Chip-Seq_Bcells_Human1.21723110
82CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18222761
83SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13279818
84PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11930683
85PU_27001747_Chip-Seq_BMDM_Mouse1.11670726
86ELF1_20517297_ChIP-Seq_JURKAT_Human1.11336349
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11053861
88GATA2_21666600_ChIP-Seq_HMVEC_Human1.09654747
89GATA3_26560356_Chip-Seq_TH2_Human1.04986639
90RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04935734
91CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02488973
92* SA1_27219007_Chip-Seq_ERYTHROID_Human1.01537968
93KDM2B_26808549_Chip-Seq_K562_Human1.00264593
94P68_20966046_ChIP-Seq_HELA_Human0.99764047
95TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.99285873
96IKZF1_21737484_ChIP-ChIP_HCT116_Human0.99121835
97VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.98319631
98SPI1_20517297_ChIP-Seq_HL60_Human0.96972816
99* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.96369144
100CTCF_21964334_ChIP-Seq_BJAB-B_Human0.92957224

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.42706368
2MP0003436_decreased_susceptibility_to4.18155891
3MP0003303_peritoneal_inflammation3.89471163
4MP0003656_abnormal_erythrocyte_physiolo3.22577846
5MP0002419_abnormal_innate_immunity3.04331875
6MP0001835_abnormal_antigen_presentation2.98706892
7MP0005025_abnormal_response_to2.82461528
8MP0000685_abnormal_immune_system2.68677464
9MP0001790_abnormal_immune_system2.66366532
10MP0005387_immune_system_phenotype2.66366532
11MP0009785_altered_susceptibility_to2.66081859
12MP0003191_abnormal_cellular_cholesterol2.54718173
13MP0003300_gastrointestinal_ulcer2.54315212
14MP0001800_abnormal_humoral_immune2.53164887
15MP0005000_abnormal_immune_tolerance2.49331332
16MP0002420_abnormal_adaptive_immunity2.40765682
17MP0001819_abnormal_immune_cell2.37547577
18MP0005083_abnormal_biliary_tract2.37038661
19MP0005671_abnormal_response_to2.31460514
20MP0002723_abnormal_immune_serum2.28886254
21MP0005464_abnormal_platelet_physiology2.25414792
22MP0002132_abnormal_respiratory_system2.22706699
23MP0008260_abnormal_autophagy2.21245352
24MP0002452_abnormal_antigen_presenting2.15280254
25MP0004147_increased_porphyrin_level2.14468121
26MP0003763_abnormal_thymus_physiology2.13859026
27MP0009278_abnormal_bone_marrow2.13671731
28MP0002405_respiratory_system_inflammati2.11875799
29MP0002398_abnormal_bone_marrow2.10881001
30MP0006082_CNS_inflammation2.09182423
31MP0005397_hematopoietic_system_phenotyp1.99635355
32MP0001545_abnormal_hematopoietic_system1.99635355
33MP0001533_abnormal_skeleton_physiology1.95391922
34MP0002396_abnormal_hematopoietic_system1.93529907
35MP0002148_abnormal_hypersensitivity_rea1.84019519
36MP0000716_abnormal_immune_system1.82423274
37MP0003045_fibrosis1.78994286
38MP0002722_abnormal_immune_system1.73651588
39MP0000689_abnormal_spleen_morphology1.70308571
40MP0003828_pulmonary_edema1.69493125
41MP0003866_abnormal_defecation1.67241812
42MP0003878_abnormal_ear_physiology1.63832395
43MP0005377_hearing/vestibular/ear_phenot1.63832395
44MP0003172_abnormal_lysosome_physiology1.63650161
45MP0010155_abnormal_intestine_physiology1.63158635
46MP0003183_abnormal_peptide_metabolism1.59013928
47MP0009333_abnormal_splenocyte_physiolog1.58394164
48MP0002429_abnormal_blood_cell1.58160308
49MP0000703_abnormal_thymus_morphology1.56573580
50MP0001845_abnormal_inflammatory_respons1.53188836
51MP0000465_gastrointestinal_hemorrhage1.50981633
52MP0004947_skin_inflammation1.46569019
53MP0004381_abnormal_hair_follicle1.41739982
54MP0001851_eye_inflammation1.40750768
55MP0009764_decreased_sensitivity_to1.39691883
56MP0002277_abnormal_respiratory_mucosa1.34617336
57MP0008469_abnormal_protein_level1.33637568
58MP0005310_abnormal_salivary_gland1.21976848
59MP0005451_abnormal_body_composition1.21944295
60MP0000858_altered_metastatic_potential1.19992380
61MP0005075_abnormal_melanosome_morpholog1.10349967
62MP0004883_abnormal_blood_vessel1.09567011
63MP0004510_myositis1.02969395
64MP0004808_abnormal_hematopoietic_stem1.01808214
65MP0000490_abnormal_crypts_of0.99167617
66MP0003075_altered_response_to0.95259424
67MP0002998_abnormal_bone_remodeling0.92798753
68MP0005164_abnormal_response_to0.90943883
69MP0001663_abnormal_digestive_system0.89338737
70MP0009763_increased_sensitivity_to0.88594763
71MP0001873_stomach_inflammation0.87811742
72MP0000343_altered_response_to0.87700144
73MP0004130_abnormal_muscle_cell0.85649831
74MP0002166_altered_tumor_susceptibility0.83795981
75MP0003690_abnormal_glial_cell0.78337996
76MP0000015_abnormal_ear_pigmentation0.76336579
77MP0009765_abnormal_xenobiotic_induced0.75956090
78MP0005390_skeleton_phenotype0.74756856
79MP0003806_abnormal_nucleotide_metabolis0.71536174
80MP0005319_abnormal_enzyme/_coenzyme0.69985008
81MP0005076_abnormal_cell_differentiation0.69111589
82MP0001986_abnormal_taste_sensitivity0.68257523
83MP0003795_abnormal_bone_structure0.67721124
84MP0005166_decreased_susceptibility_to0.64549224
85MP0008004_abnormal_stomach_pH0.64409991
86MP0002653_abnormal_ependyma_morphology0.63082566
87MP0008874_decreased_physiological_sensi0.61480480
88MP0009931_abnormal_skin_appearance0.60638869
89MP0005058_abnormal_lysosome_morphology0.59821642
90MP0000249_abnormal_blood_vessel0.59696003
91MP0002168_other_aberrant_phenotype0.59132530
92MP0002928_abnormal_bile_duct0.57411997
93MP0000609_abnormal_liver_physiology0.56505006
94MP0004185_abnormal_adipocyte_glucose0.56113628
95MP0003221_abnormal_cardiomyocyte_apopto0.53965577
96MP0003566_abnormal_cell_adhesion0.53463335
97MP0002933_joint_inflammation0.53012438
98MP0002332_abnormal_exercise_endurance0.52380449
99MP0002019_abnormal_tumor_incidence0.52006693
100MP0003448_altered_tumor_morphology0.50924370

Predicted human phenotypes

RankGene SetZ-score
1* Abnormality of the heme biosynthetic pathway (HP:0010472)7.98171727
2* Hypochromic anemia (HP:0001931)6.62458471
3Eczematoid dermatitis (HP:0000976)6.34486027
4* Abnormal hemoglobin (HP:0011902)5.61801983
5* Microcytic anemia (HP:0001935)5.44537882
6Recurrent abscess formation (HP:0002722)5.44010321
7Recurrent bacterial skin infections (HP:0005406)5.30019753
8Myositis (HP:0100614)4.81695506
9Abnormality of macrophages (HP:0004311)4.75926090
10Recurrent gram-negative bacterial infections (HP:0005420)4.62394512
11Stomatitis (HP:0010280)4.61689076
12Orchitis (HP:0100796)4.30879082
13Chronic obstructive pulmonary disease (HP:0006510)4.11836609
14Obstructive lung disease (HP:0006536)4.11836609
15Prolonged bleeding time (HP:0003010)4.07335150
16Elevated erythrocyte sedimentation rate (HP:0003565)3.99659474
17Gastrointestinal infarctions (HP:0005244)3.89406773
18Abnormal delayed hypersensitivity skin test (HP:0002963)3.86472870
19Optic neuritis (HP:0100653)3.77574435
20Retrobulbar optic neuritis (HP:0100654)3.77574435
21Spontaneous hematomas (HP:0007420)3.74487595
22Increased IgE level (HP:0003212)3.61934388
23Urticaria (HP:0001025)3.61719731
24Recurrent fungal infections (HP:0002841)3.60732473
25Mediastinal lymphadenopathy (HP:0100721)3.56362335
26Poikilocytosis (HP:0004447)3.54365426
27Meningitis (HP:0001287)3.46015080
28* Polycythemia (HP:0001901)3.41004169
29Recurrent skin infections (HP:0001581)3.40516498
30Gingivitis (HP:0000230)3.38975182
31Cellulitis (HP:0100658)3.19643969
32* Toxemia of pregnancy (HP:0100603)3.16676772
33Encephalitis (HP:0002383)3.14187591
34Keratoconjunctivitis sicca (HP:0001097)3.04658736
35Osteomyelitis (HP:0002754)3.00581506
36Petechiae (HP:0000967)3.00262808
37Episodic fever (HP:0001954)2.97843145
38Abnormality of iron homeostasis (HP:0011031)2.96170038
39Epistaxis (HP:0000421)2.92298679
40Vasculitis (HP:0002633)2.90984594
41Gingival bleeding (HP:0000225)2.90451757
42Chronic mucocutaneous candidiasis (HP:0002728)2.87854638
43Recurrent cutaneous fungal infections (HP:0011370)2.87854638
44Keratoconjunctivitis (HP:0001096)2.81182412
45Chest pain (HP:0100749)2.79273659
46Pustule (HP:0200039)2.72921138
47Cholelithiasis (HP:0001081)2.70431956
48Anorexia (HP:0002039)2.65253783
49Inflammation of the large intestine (HP:0002037)2.65245581
50Peritonitis (HP:0002586)2.62063005
51Gastrointestinal inflammation (HP:0004386)2.58857184
52Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.55327349
53Reticulocytosis (HP:0001923)2.52461269
54Abnormal platelet volume (HP:0011876)2.50291137
55Abnormality of transition element cation homeostasis (HP:0011030)2.45440054
56Leukocytosis (HP:0001974)2.43917079
57Abnormal gallbladder morphology (HP:0012437)2.38726534
58Increased IgM level (HP:0003496)2.32978834
59Slow saccadic eye movements (HP:0000514)2.31452317
60Pulmonary infiltrates (HP:0002113)2.28345180
61Panhypogammaglobulinemia (HP:0003139)2.26113812
62Granulocytopenia (HP:0001913)2.25678381
63Hemoptysis (HP:0002105)2.23141701
64Abnormality of T cells (HP:0002843)2.21871854
65Recurrent viral infections (HP:0004429)2.21683194
66T lymphocytopenia (HP:0005403)2.19436609
67Abnormality of T cell physiology (HP:0011840)2.15827867
68Abnormality of T cell number (HP:0011839)2.14367549
69Purpura (HP:0000979)2.13941786
70Pulmonary embolism (HP:0002204)2.11807686
71Abnormality of the fingertips (HP:0001211)2.10951012
72Sepsis (HP:0100806)2.07278342
73Arterial thrombosis (HP:0004420)2.06952897
74Difficulty running (HP:0009046)2.02008338
75Hypergammaglobulinemia (HP:0010702)2.01959695
76Metaphyseal cupping (HP:0003021)2.00427313
77* Hypochromic microcytic anemia (HP:0004840)10.7237803
78Lymphopenia (HP:0001888)1.99766169
79Amyloidosis (HP:0011034)1.99731857
80Skin ulcer (HP:0200042)1.98283309
81Increased serum ferritin (HP:0003281)1.98007966
82Acanthocytosis (HP:0001927)1.96217978
83Thrombophlebitis (HP:0004418)1.95595101
84Abnormality of the peritoneum (HP:0002585)1.91752044
85* Abnormality of the pericardium (HP:0001697)1.91520234
86Hepatosplenomegaly (HP:0001433)1.91269361
87Abnormality of the pleura (HP:0002103)1.86926315
88Abnormality of cells of the lymphoid lineage (HP:0012140)1.85684265
89* Pallor (HP:0000980)1.79514954
90Glomerulopathy (HP:0100820)1.78888097
91IgM deficiency (HP:0002850)1.78860381
92* Splenomegaly (HP:0001744)1.76267306
93Paralysis (HP:0003470)1.74567525
94Acne (HP:0001061)1.73609883
95Hypertensive crisis (HP:0100735)1.72371965
96Colitis (HP:0002583)1.72126726
97Paresthesia (HP:0003401)1.71619157
98Autoimmune hemolytic anemia (HP:0001890)1.70349340
99Eosinophilia (HP:0001880)1.69711169
100Vertigo (HP:0002321)1.68911437

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.60912502
2MAP2K33.72282520
3MAP4K13.51649852
4ERN13.11448549
5IRAK43.04935201
6TNK23.02565065
7GRK62.98711797
8TAOK12.78372785
9PRPF4B2.72680670
10BLK2.55928722
11FES2.38346905
12MAP3K32.37932879
13MAP3K112.36843749
14TYK22.24410835
15CSK2.17532467
16EPHB12.11044707
17ZAP701.94063689
18BTK1.82982055
19HCK1.74630435
20TAOK21.72897551
21SYK1.70419777
22FGR1.60754811
23SIK31.50856842
24MAP3K11.47180190
25TXK1.44949917
26JAK31.32184473
27KSR21.31616467
28MARK31.29976063
29TRIB31.29934461
30LYN1.27550892
31JAK21.26608866
32MARK21.23091706
33IKBKE1.21824865
34PTK2B1.10970598
35PRKD21.10807801
36SIK21.06625817
37YES11.04864176
38LCK1.02844801
39PTK61.00472827
40TBK11.00088903
41SMG10.96588089
42TAOK30.89854717
43EIF2AK10.87318279
44JAK10.85483848
45HIPK20.85341060
46TEC0.84454590
47CDK190.82948500
48ITK0.82591768
49MAP3K60.82042376
50STK110.79705754
51KIT0.79051723
52MAP3K130.77685474
53BMX0.76821039
54PDK10.76675960
55MAP3K70.76316420
56CSF1R0.75672184
57SIK10.73670679
58SGK30.73499226
59PIM10.73329047
60MAP2K40.71254136
61MAPK120.70790831
62PDPK10.70483303
63STK100.68911756
64MAP3K140.68340444
65STK380.68182915
66TESK20.66689185
67MAP3K50.63489240
68DYRK1B0.63076303
69FYN0.61957225
70IKBKB0.60929237
71MAP3K20.59653839
72LRRK20.57280116
73RPS6KL10.54942414
74RPS6KC10.54942414
75IRAK10.54088246
76MATK0.51723941
77CDK120.51141592
78SGK20.50173148
79PRKCQ0.48249338
80RPS6KA60.46750009
81WNK10.46648928
82RET0.46128839
83DYRK30.44680305
84KSR10.44357324
85MAPKAPK20.42945093
86CLK10.42653677
87MAP3K80.41740367
88IRAK20.40818750
89MAPK70.40639340
90BMPR20.39023475
91PRKG20.37874458
92MAP3K100.37444888
93RAF10.36679378
94EPHA30.36589878
95CDC42BPA0.35093332
96PIK3CG0.34762830
97PRKCZ0.34296105
98DAPK20.32991036
99NLK0.32777135
100TGFBR20.31706041

Predicted pathways (KEGG)

RankGene SetZ-score
1* Malaria_Homo sapiens_hsa051443.23339504
2Osteoclast differentiation_Homo sapiens_hsa043803.06172283
3Leishmaniasis_Homo sapiens_hsa051402.71738714
4* African trypanosomiasis_Homo sapiens_hsa051432.42041716
5Staphylococcus aureus infection_Homo sapiens_hsa051502.37645094
6Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.26581686
7Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.24930209
8B cell receptor signaling pathway_Homo sapiens_hsa046622.24153641
9Acute myeloid leukemia_Homo sapiens_hsa052212.17070403
10Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.09545072
11Tuberculosis_Homo sapiens_hsa051521.98839115
12Primary immunodeficiency_Homo sapiens_hsa053401.91585596
13Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.88626964
14Measles_Homo sapiens_hsa051621.81981689
15Toll-like receptor signaling pathway_Homo sapiens_hsa046201.78523731
16Chemokine signaling pathway_Homo sapiens_hsa040621.75898557
17Hematopoietic cell lineage_Homo sapiens_hsa046401.73279789
18Graft-versus-host disease_Homo sapiens_hsa053321.62841764
19T cell receptor signaling pathway_Homo sapiens_hsa046601.61484778
20Non-small cell lung cancer_Homo sapiens_hsa052231.60957757
21NOD-like receptor signaling pathway_Homo sapiens_hsa046211.58833342
22Allograft rejection_Homo sapiens_hsa053301.52802115
23Autoimmune thyroid disease_Homo sapiens_hsa053201.43315398
24Pancreatic cancer_Homo sapiens_hsa052121.42928848
25Toxoplasmosis_Homo sapiens_hsa051451.42768454
26Influenza A_Homo sapiens_hsa051641.42360843
27Jak-STAT signaling pathway_Homo sapiens_hsa046301.41615081
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.40723261
29Chronic myeloid leukemia_Homo sapiens_hsa052201.38608303
30Herpes simplex infection_Homo sapiens_hsa051681.36309861
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.35757472
32NF-kappa B signaling pathway_Homo sapiens_hsa040641.34581345
33Platelet activation_Homo sapiens_hsa046111.28159093
34Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.25047064
35Phagosome_Homo sapiens_hsa041451.20743958
36Hepatitis C_Homo sapiens_hsa051601.20057396
37RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.18719183
38Hepatitis B_Homo sapiens_hsa051611.16117902
39TNF signaling pathway_Homo sapiens_hsa046681.13915508
40VEGF signaling pathway_Homo sapiens_hsa043701.09644950
41Renal cell carcinoma_Homo sapiens_hsa052111.08176283
42Antigen processing and presentation_Homo sapiens_hsa046121.07350058
43Legionellosis_Homo sapiens_hsa051341.05183883
44Type I diabetes mellitus_Homo sapiens_hsa049400.99006912
45Viral myocarditis_Homo sapiens_hsa054160.97222119
46Adipocytokine signaling pathway_Homo sapiens_hsa049200.95423242
47Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.95356696
48Apoptosis_Homo sapiens_hsa042100.93263482
49FoxO signaling pathway_Homo sapiens_hsa040680.92771504
50Shigellosis_Homo sapiens_hsa051310.91974716
51Endometrial cancer_Homo sapiens_hsa052130.89713975
52Asthma_Homo sapiens_hsa053100.89560523
53Endocytosis_Homo sapiens_hsa041440.88891572
54Regulation of autophagy_Homo sapiens_hsa041400.88866380
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.88843697
56Prolactin signaling pathway_Homo sapiens_hsa049170.84912414
57Neurotrophin signaling pathway_Homo sapiens_hsa047220.83575540
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82543633
59Notch signaling pathway_Homo sapiens_hsa043300.80823831
60Salmonella infection_Homo sapiens_hsa051320.80438577
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.80192795
62Choline metabolism in cancer_Homo sapiens_hsa052310.80122397
63Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78291900
64Glycerophospholipid metabolism_Homo sapiens_hsa005640.77998093
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.77487088
66Other glycan degradation_Homo sapiens_hsa005110.76085061
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.75585742
68Colorectal cancer_Homo sapiens_hsa052100.74242594
69Phosphatidylinositol signaling system_Homo sapiens_hsa040700.73792022
70Intestinal immune network for IgA production_Homo sapiens_hsa046720.73698698
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.73482719
72SNARE interactions in vesicular transport_Homo sapiens_hsa041300.72221214
73Pertussis_Homo sapiens_hsa051330.69713967
74mTOR signaling pathway_Homo sapiens_hsa041500.69248146
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.68358256
76Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.67313321
77Viral carcinogenesis_Homo sapiens_hsa052030.67243737
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65454093
79Collecting duct acid secretion_Homo sapiens_hsa049660.65190210
80Inositol phosphate metabolism_Homo sapiens_hsa005620.63897776
81Transcriptional misregulation in cancer_Homo sapiens_hsa052020.63235475
82Epstein-Barr virus infection_Homo sapiens_hsa051690.62732848
83GnRH signaling pathway_Homo sapiens_hsa049120.61705534
84HIF-1 signaling pathway_Homo sapiens_hsa040660.61351315
85HTLV-I infection_Homo sapiens_hsa051660.59741976
86Insulin resistance_Homo sapiens_hsa049310.58185465
87Type II diabetes mellitus_Homo sapiens_hsa049300.56489006
88Amoebiasis_Homo sapiens_hsa051460.55559809
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.54945286
90Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.54528553
91MAPK signaling pathway_Homo sapiens_hsa040100.54360410
92Thyroid cancer_Homo sapiens_hsa052160.53307593
93Rap1 signaling pathway_Homo sapiens_hsa040150.52956028
94Rheumatoid arthritis_Homo sapiens_hsa053230.50564593
95Glioma_Homo sapiens_hsa052140.50329067
96Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.50152191
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49763436
98Prostate cancer_Homo sapiens_hsa052150.49088479
99Insulin signaling pathway_Homo sapiens_hsa049100.47402690
100ErbB signaling pathway_Homo sapiens_hsa040120.46632321

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