DEFA4

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: Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* killing of cells of other organism (GO:0031640)9.75785064
2* disruption of cells of other organism (GO:0044364)9.75785064
3* defense response to fungus (GO:0050832)9.58068131
4organ or tissue specific immune response (GO:0002251)9.51382271
5* antimicrobial humoral response (GO:0019730)9.44158104
6oxygen transport (GO:0015671)8.81019686
7protoporphyrinogen IX metabolic process (GO:0046501)8.13790346
8protoporphyrinogen IX biosynthetic process (GO:0006782)7.64478858
9positive regulation of interleukin-8 biosynthetic process (GO:0045416)7.63796798
10gas transport (GO:0015669)7.46465484
11detection of bacterium (GO:0016045)7.26044377
12killing of cells in other organism involved in symbiotic interaction (GO:0051883)7.16674264
13disruption of cells of other organism involved in symbiotic interaction (GO:0051818)7.16674264
14response to peptidoglycan (GO:0032494)7.14894691
15detection of other organism (GO:0098543)7.11053898
16* response to fungus (GO:0009620)7.04151553
17intracellular estrogen receptor signaling pathway (GO:0030520)6.74051828
18hemoglobin metabolic process (GO:0020027)6.69393111
19defense response to Gram-positive bacterium (GO:0050830)5.96178163
20cellular extravasation (GO:0045123)5.77837599
21neutrophil activation (GO:0042119)5.69456081
22regulation of interleukin-8 biosynthetic process (GO:0045414)5.54370324
23porphyrin-containing compound biosynthetic process (GO:0006779)5.47252584
24superoxide anion generation (GO:0042554)5.28889117
25negative regulation of interleukin-8 production (GO:0032717)5.24683164
26neutrophil activation involved in immune response (GO:0002283)5.21240578
27granulocyte activation (GO:0036230)5.15429636
28imidazole-containing compound metabolic process (GO:0052803)5.14775670
29regulation of growth of symbiont in host (GO:0044126)5.11401834
30negative regulation of growth of symbiont in host (GO:0044130)5.11401834
31negative regulation of growth of symbiont involved in interaction with host (GO:0044146)5.11401834
32modulation of growth of symbiont involved in interaction with host (GO:0044144)5.11401834
33* cell killing (GO:0001906)5.06165804
34leukocyte migration involved in inflammatory response (GO:0002523)5.02417968
35tetrapyrrole biosynthetic process (GO:0033014)4.74816247
36heme biosynthetic process (GO:0006783)4.73683349
37erythrocyte maturation (GO:0043249)4.64837784
38detection of external biotic stimulus (GO:0098581)4.60152604
39negative regulation of erythrocyte differentiation (GO:0045647)4.50249447
40hydrogen peroxide catabolic process (GO:0042744)4.41236344
41porphyrin-containing compound metabolic process (GO:0006778)4.30605084
42regulation of natural killer cell differentiation (GO:0032823)4.29514349
43leukocyte aggregation (GO:0070486)4.18179618
44detection of biotic stimulus (GO:0009595)4.14232539
45response to methylmercury (GO:0051597)4.11955939
46erythrocyte development (GO:0048821)4.09767229
47myeloid cell development (GO:0061515)4.04327858
48citrulline biosynthetic process (GO:0019240)3.92794542
49* defense response to bacterium (GO:0042742)3.87204286
50heme metabolic process (GO:0042168)3.79947392
51negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.73582609
52neutrophil mediated immunity (GO:0002446)3.71561493
53negative regulation of interleukin-6 production (GO:0032715)3.54775901
54positive regulation of gamma-delta T cell activation (GO:0046645)3.45144069
55leukotriene biosynthetic process (GO:0019370)3.44598474
56* response to bacterium (GO:0009617)3.40582007
57respiratory burst (GO:0045730)3.39621111
58regulation of mast cell degranulation (GO:0043304)3.36463680
59megakaryocyte development (GO:0035855)3.34161238
60response to host immune response (GO:0052572)3.28082099
61response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.28082099
62leukotriene metabolic process (GO:0006691)3.11627738
63regulation of myeloid leukocyte mediated immunity (GO:0002886)3.11314966
64negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.10647855
65activated T cell proliferation (GO:0050798)3.10124251
66regulation of leukocyte degranulation (GO:0043300)3.10031727
67regulation of response to osmotic stress (GO:0047484)3.09493746
68regulation of mast cell activation involved in immune response (GO:0033006)3.09463331
69* modification of morphology or physiology of other organism (GO:0035821)3.07687905
70hydrogen peroxide metabolic process (GO:0042743)3.03397958
71response to host (GO:0075136)2.92756189
72response to host defenses (GO:0052200)2.92756189
73response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.92756189
74phagosome maturation (GO:0090382)2.87596712
75production of molecular mediator involved in inflammatory response (GO:0002532)2.84222944
76neutrophil chemotaxis (GO:0030593)2.83444775
77positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.83245156
78leukocyte degranulation (GO:0043299)2.82782035
79positive regulation of granulocyte differentiation (GO:0030854)2.79498864
80myeloid leukocyte mediated immunity (GO:0002444)2.78409755
81regulation of regulated secretory pathway (GO:1903305)2.77812398
82neutrophil migration (GO:1990266)2.76360289
83regulation of female gonad development (GO:2000194)2.74903352
84positive regulation of B cell differentiation (GO:0045579)2.74891483
853-UTR-mediated mRNA stabilization (GO:0070935)2.74248324
86mast cell activation (GO:0045576)2.73699235
87regulation of mast cell activation (GO:0033003)2.72667397
88pentose-phosphate shunt (GO:0006098)2.71413000
89regulation of interleukin-8 production (GO:0032677)2.71128173
90superoxide metabolic process (GO:0006801)2.70455204
91bicarbonate transport (GO:0015701)2.69355198
92negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.68590296
93cellular response to interleukin-6 (GO:0071354)2.67721516
94definitive hemopoiesis (GO:0060216)2.65877489
95granulocyte migration (GO:0097530)2.64794897
96regulation of erythrocyte differentiation (GO:0045646)2.63474522
97tetrapyrrole metabolic process (GO:0033013)2.60038953
98innate immune response in mucosa (GO:0002227)12.2793559
99* antibacterial humoral response (GO:0019731)10.2339206
100mucosal immune response (GO:0002385)10.1600570

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human5.09696623
2SCL_19346495_ChIP-Seq_HPC-7_Human4.30021201
3GATA1_19941826_ChIP-Seq_K562_Human4.20409909
4MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.87889950
5VDR_21846776_ChIP-Seq_THP-1_Human3.84936180
6MYB_21317192_ChIP-Seq_ERMYB_Mouse3.54930307
7VDR_24763502_ChIP-Seq_THP-1_Human3.52218028
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.23491803
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.03407577
10GATA1_19941827_ChIP-Seq_MEL_Mouse2.91440280
11IRF8_22096565_ChIP-ChIP_GC-B_Human2.73055637
12SPI1_23547873_ChIP-Seq_NB4_Human2.72239086
13GATA2_19941826_ChIP-Seq_K562_Human2.67825688
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.64047109
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.62516493
16TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.59041033
17RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.53502237
18IRF8_21731497_ChIP-ChIP_J774_Mouse2.53401715
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.39049967
20E2F7_22180533_ChIP-Seq_HELA_Human2.34205675
21RUNX1_22412390_ChIP-Seq_EML_Mouse2.31035677
22SPI1_23127762_ChIP-Seq_K562_Human2.30306791
23GATA1_22383799_ChIP-Seq_G1ME_Mouse2.29299600
24NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.27025814
25BRD4_27068464_Chip-Seq_AML-cells_Mouse2.25445249
26MYC_22102868_ChIP-Seq_BL_Human2.18973742
27VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.18534746
28GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.15331901
29TCF7_22412390_ChIP-Seq_EML_Mouse2.15163861
30UTX_26944678_Chip-Seq_JUKART_Human2.06509640
31MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.01658435
32MAF_26560356_Chip-Seq_TH1_Human2.01025360
33FOXM1_23109430_ChIP-Seq_U2OS_Human1.97203965
34EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.96970144
35SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.95568388
36KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.87920401
37LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.84422842
38E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.83432140
39LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.83057918
40MYB_26560356_Chip-Seq_TH2_Human1.81502581
41FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.81175585
42VDR_24787735_ChIP-Seq_THP-1_Human1.80021999
43STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.76756613
44SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.73139532
45KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.72213100
46STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.69992700
47GATA2_22383799_ChIP-Seq_G1ME_Mouse1.68364463
48Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.66974138
49RUNX_20019798_ChIP-Seq_JUKART_Human1.64730771
50STAT4_19710469_ChIP-ChIP_TH1__Mouse1.63988086
51KDM2B_26808549_Chip-Seq_SUP-B15_Human1.56511780
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.55821038
53* KDM2B_26808549_Chip-Seq_DND41_Human1.53176621
54MYB_26560356_Chip-Seq_TH1_Human1.52779822
55PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.52392480
56GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.52030865
57CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.48777620
58PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.41885059
59BCOR_27268052_Chip-Seq_Bcells_Human1.41598172
60STAT6_21828071_ChIP-Seq_BEAS2B_Human1.41535791
61FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.41483186
62NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.38671803
63NCOR1_26117541_ChIP-Seq_K562_Human1.38000186
64GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.36771000
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.36526477
66KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.36506625
67* LXR_22292898_ChIP-Seq_THP-1_Human1.35296106
68PU_27001747_Chip-Seq_BMDM_Mouse1.32396264
69IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.30645589
70SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.28545381
71IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.25528717
72ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23569853
73MAF_26560356_Chip-Seq_TH2_Human1.23415490
74CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21776740
75RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.21180055
76ELK3_25401928_ChIP-Seq_HUVEC_Human1.19954260
77TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.19080757
78SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16079120
79BCL6_27268052_Chip-Seq_Bcells_Human1.15531937
80ELF1_17652178_ChIP-ChIP_JURKAT_Human1.15446789
81SPI1_20517297_ChIP-Seq_HL60_Human1.14943842
82ELF1_20517297_ChIP-Seq_JURKAT_Human1.14923969
83CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.12411592
84CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09353504
85GATA3_27048872_Chip-Seq_THYMUS_Human1.04912263
86FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.02105685
87TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01995919
88P68_20966046_ChIP-Seq_HELA_Human1.01859661
89CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00917406
90RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99754635
91PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.98156142
92GATA3_26560356_Chip-Seq_TH2_Human0.96858592
93KDM2B_26808549_Chip-Seq_JURKAT_Human0.96333100
94PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.92046946
95CTCF_21964334_ChIP-Seq_BJAB-B_Human0.91957138
96SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.91918123
97GATA1_19941827_ChIP-Seq_MEL86_Mouse0.90391773
98PU.1_20513432_ChIP-Seq_Bcells_Mouse0.90266955
99PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86964489
100GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.80181429

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level6.39848305
2MP0003656_abnormal_erythrocyte_physiolo5.83429262
3MP0003303_peritoneal_inflammation4.85681445
4MP0009785_altered_susceptibility_to3.57067962
5MP0003436_decreased_susceptibility_to3.30751855
6MP0009278_abnormal_bone_marrow3.22955556
7MP0002419_abnormal_innate_immunity3.01412858
8MP0005025_abnormal_response_to3.00426878
9MP0001545_abnormal_hematopoietic_system2.83647542
10MP0005397_hematopoietic_system_phenotyp2.83647542
11MP0005464_abnormal_platelet_physiology2.80133472
12MP0005083_abnormal_biliary_tract2.79804732
13MP0003724_increased_susceptibility_to2.39337399
14MP0003172_abnormal_lysosome_physiology2.34771662
15MP0001835_abnormal_antigen_presentation2.14676274
16MP0000685_abnormal_immune_system2.04978099
17MP0008260_abnormal_autophagy1.94593279
18MP0002398_abnormal_bone_marrow1.92235783
19MP0002420_abnormal_adaptive_immunity1.90108294
20MP0005000_abnormal_immune_tolerance1.86751586
21MP0001819_abnormal_immune_cell1.86706653
22MP0000465_gastrointestinal_hemorrhage1.84219636
23MP0003828_pulmonary_edema1.79882544
24MP0003191_abnormal_cellular_cholesterol1.74866002
25MP0003045_fibrosis1.74443221
26MP0005387_immune_system_phenotype1.71017962
27MP0001790_abnormal_immune_system1.71017962
28MP0004808_abnormal_hematopoietic_stem1.70282025
29MP0002722_abnormal_immune_system1.65833886
30MP0002405_respiratory_system_inflammati1.65755538
31MP0001533_abnormal_skeleton_physiology1.65598171
32MP0005058_abnormal_lysosome_morphology1.65145641
33MP0002452_abnormal_antigen_presenting1.63216330
34MP0000689_abnormal_spleen_morphology1.61218551
35MP0001800_abnormal_humoral_immune1.60672449
36MP0002723_abnormal_immune_serum1.54859694
37MP0001851_eye_inflammation1.54067178
38MP0002429_abnormal_blood_cell1.49356309
39MP0000716_abnormal_immune_system1.49153828
40MP0002396_abnormal_hematopoietic_system1.48972569
41MP0001845_abnormal_inflammatory_respons1.43058270
42MP0002148_abnormal_hypersensitivity_rea1.42802524
43MP0009764_decreased_sensitivity_to1.41840970
44MP0002009_preneoplasia1.37871444
45MP0002166_altered_tumor_susceptibility1.37542798
46MP0003300_gastrointestinal_ulcer1.35956129
47MP0009333_abnormal_splenocyte_physiolog1.35538563
48MP0002132_abnormal_respiratory_system1.33281083
49MP0005076_abnormal_cell_differentiation1.25306740
50MP0004947_skin_inflammation1.24414976
51MP0003075_altered_response_to1.23004744
52MP0006082_CNS_inflammation1.13096659
53MP0000703_abnormal_thymus_morphology1.10803332
54MP0003763_abnormal_thymus_physiology1.10630153
55MP0003566_abnormal_cell_adhesion1.10431561
56MP0005636_abnormal_mineral_homeostasis1.09896241
57MP0005671_abnormal_response_to1.08823180
58MP0002138_abnormal_hepatobiliary_system1.08482677
59MP0004185_abnormal_adipocyte_glucose1.04463681
60MP0010155_abnormal_intestine_physiology1.04109767
61MP0008469_abnormal_protein_level0.97021765
62MP0009931_abnormal_skin_appearance0.96812630
63MP0000343_altered_response_to0.94707102
64MP0005164_abnormal_response_to0.94668585
65MP0009765_abnormal_xenobiotic_induced0.90842205
66MP0009763_increased_sensitivity_to0.90555669
67MP0004883_abnormal_blood_vessel0.88027582
68MP0000858_altered_metastatic_potential0.88023139
69MP0001663_abnormal_digestive_system0.84627952
70MP0004510_myositis0.80703720
71MP0003795_abnormal_bone_structure0.75764750
72MP0004130_abnormal_muscle_cell0.75148194
73MP0002006_tumorigenesis0.73350332
74MP0000609_abnormal_liver_physiology0.72658883
75MP0000249_abnormal_blood_vessel0.72344787
76MP0001853_heart_inflammation0.71615491
77MP0000015_abnormal_ear_pigmentation0.70600610
78MP0002998_abnormal_bone_remodeling0.70386046
79MP0001986_abnormal_taste_sensitivity0.67889464
80MP0004381_abnormal_hair_follicle0.67538132
81MP0005075_abnormal_melanosome_morpholog0.66971144
82MP0003221_abnormal_cardiomyocyte_apopto0.66372269
83MP0002095_abnormal_skin_pigmentation0.64378910
84MP0003111_abnormal_nucleus_morphology0.64027135
85MP0002019_abnormal_tumor_incidence0.63931777
86MP0008775_abnormal_heart_ventricle0.63525814
87MP0004264_abnormal_extraembryonic_tissu0.60454750
88MP0000598_abnormal_liver_morphology0.60261458
89MP0005390_skeleton_phenotype0.60136630
90MP0002877_abnormal_melanocyte_morpholog0.58993082
91MP0005319_abnormal_enzyme/_coenzyme0.56077174
92MP0005166_decreased_susceptibility_to0.54715306
93MP0001849_ear_inflammation0.54570393
94MP0008004_abnormal_stomach_pH0.53886567
95MP0003183_abnormal_peptide_metabolism0.52275558
96MP0003806_abnormal_nucleotide_metabolis0.51959588
97MP0005621_abnormal_cell_physiology0.50571237
98MP0000490_abnormal_crypts_of0.50098193
99MP0000749_muscle_degeneration0.48738967
100MP0005165_increased_susceptibility_to0.47734439

Predicted human phenotypes

RankGene SetZ-score
1Hypochromic anemia (HP:0001931)6.90916139
2Poikilocytosis (HP:0004447)6.51011579
3Microcytic anemia (HP:0001935)6.10505442
4Abnormal hemoglobin (HP:0011902)5.47833974
5Polycythemia (HP:0001901)5.43917885
6Recurrent abscess formation (HP:0002722)4.70583999
7Eczematoid dermatitis (HP:0000976)4.61030139
8Recurrent bacterial skin infections (HP:0005406)4.58619957
9Paralysis (HP:0003470)4.49261692
10Toxemia of pregnancy (HP:0100603)4.41144182
11Prolonged bleeding time (HP:0003010)4.40643854
12Cholelithiasis (HP:0001081)4.31588177
13Abnormal gallbladder morphology (HP:0012437)3.87252921
14Abnormality of macrophages (HP:0004311)3.76028929
15Recurrent gram-negative bacterial infections (HP:0005420)3.75845873
16Diaphragmatic weakness (HP:0009113)3.68287385
17Abnormality of iron homeostasis (HP:0011031)3.63303639
18Chronic obstructive pulmonary disease (HP:0006510)3.58646380
19Obstructive lung disease (HP:0006536)3.58646380
20Petechiae (HP:0000967)3.57206762
21Reticulocytosis (HP:0001923)3.57142537
22Epistaxis (HP:0000421)3.38911129
23Abnormal platelet volume (HP:0011876)3.34248960
24Stomatitis (HP:0010280)3.34001825
25Acanthocytosis (HP:0001927)3.13265080
26Abnormality of transition element cation homeostasis (HP:0011030)3.05255312
27Increased mean platelet volume (HP:0011877)3.00388677
28Urticaria (HP:0001025)2.98568456
29Myositis (HP:0100614)2.90972153
30Osteomyelitis (HP:0002754)2.83746994
31Systemic lupus erythematosus (HP:0002725)2.83698708
32Abnormal delayed hypersensitivity skin test (HP:0002963)2.82664226
33Recurrent skin infections (HP:0001581)2.78977798
34Abnormality of the gallbladder (HP:0005264)2.78090565
35Gingivitis (HP:0000230)2.77883190
36Gastrointestinal infarctions (HP:0005244)2.77239710
37Mediastinal lymphadenopathy (HP:0100721)2.76994221
38Ileus (HP:0002595)2.73088273
39Gingival bleeding (HP:0000225)2.71828035
40Meningitis (HP:0001287)2.70773906
41Recurrent fungal infections (HP:0002841)2.69726540
42Increased cerebral lipofuscin (HP:0011813)2.53517524
43Cellulitis (HP:0100658)2.51180258
44Abnormality of the fingertips (HP:0001211)2.48969717
45Increased neuronal autofluorescent lipopigment (HP:0002074)2.43936283
46Menorrhagia (HP:0000132)2.43415180
47Purpura (HP:0000979)2.35823873
48Thrombophlebitis (HP:0004418)2.34387148
49Hepatosplenomegaly (HP:0001433)2.34203274
50Granulocytopenia (HP:0001913)2.33234458
51Abnormal gallbladder physiology (HP:0012438)2.32916630
52Cholecystitis (HP:0001082)2.32916630
53Abnormal platelet function (HP:0011869)2.32639731
54Impaired platelet aggregation (HP:0003540)2.32639731
55Abnormality of reticulocytes (HP:0004312)2.31187021
56Spontaneous hematomas (HP:0007420)2.28968596
57Recurrent cutaneous fungal infections (HP:0011370)2.26753609
58Chronic mucocutaneous candidiasis (HP:0002728)2.26753609
59Pallor (HP:0000980)2.24521334
60Increased serum ferritin (HP:0003281)2.24000844
61Increased IgE level (HP:0003212)2.22441782
62Elevated erythrocyte sedimentation rate (HP:0003565)2.21124974
63Autoimmune thrombocytopenia (HP:0001973)2.19689584
64Keratoconjunctivitis sicca (HP:0001097)2.19565842
65Amyloidosis (HP:0011034)2.17923542
66Cutaneous photosensitivity (HP:0000992)2.17625188
67Anorexia (HP:0002039)2.16394356
68Hyperbilirubinemia (HP:0002904)2.15610841
69Recurrent viral infections (HP:0004429)2.11554908
70Hypertensive crisis (HP:0100735)2.09108771
71Orchitis (HP:0100796)2.08085943
72Paresthesia (HP:0003401)2.08025217
73Nausea (HP:0002018)2.04861385
74Pustule (HP:0200039)2.01251165
75Hypochromic microcytic anemia (HP:0004840)12.1087942
76Abnormality of the heme biosynthetic pathway (HP:0010472)11.5810527
77Optic neuritis (HP:0100653)1.98389554
78Retrobulbar optic neuritis (HP:0100654)1.98389554
79Keratoconjunctivitis (HP:0001096)1.98056566
80Vasculitis (HP:0002633)1.96904947
81Leukocytosis (HP:0001974)1.95308518
82Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.93656953
83Encephalitis (HP:0002383)1.91444416
84Episodic fever (HP:0001954)1.89939992
85Abnormality of liposaccharide metabolism (HP:0010968)1.89026104
86Abnormality of glycosphingolipid metabolism (HP:0004343)1.89026104
87Abnormality of glycolipid metabolism (HP:0010969)1.89026104
88Increased density of long bones (HP:0006392)1.87378920
89Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.87216253
90Chest pain (HP:0100749)1.87174845
91Hemoptysis (HP:0002105)1.86753714
92Skin rash (HP:0000988)1.86038564
93Abnormality of the pericardium (HP:0001697)1.85993253
94Thrombocytosis (HP:0001894)1.80962774
95Pulmonary infiltrates (HP:0002113)1.80115271
96Hepatocellular carcinoma (HP:0001402)1.79408664
97Cerebral palsy (HP:0100021)1.78831734
98Hypoparathyroidism (HP:0000829)1.76983902
99Skin ulcer (HP:0200042)1.75970745
100Bruising susceptibility (HP:0000978)1.74369299

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K34.92837306
2RIPK44.44872730
3PRPF4B4.24780678
4GRK63.60649723
5TAOK13.00021421
6BLK2.94996288
7TAOK22.63119943
8FES2.56166530
9MAP3K32.54946395
10MAP3K112.43811936
11TNK22.16948075
12SYK2.13650348
13TEC2.12427324
14MAP3K62.02825000
15IRAK42.01363493
16ZAP701.92473425
17MAP4K11.90534705
18ERN11.87318813
19BTK1.85067519
20EIF2AK11.81536264
21FGR1.79926564
22TYK21.62755662
23LYN1.38112373
24PIK3CG1.28452654
25PTK2B1.28366062
26HCK1.27476877
27YES11.22351616
28JAK21.17864592
29CSK1.17422680
30MAP3K51.16872240
31MAP3K141.13868151
32MAP3K11.11990623
33CLK11.00143030
34KIT0.99039860
35TRPM70.97438199
36MARK30.96156743
37MAP3K130.95426379
38ITK0.95187026
39MAP2K40.94532656
40MAPK120.93901738
41KDR0.89716186
42PIK3CA0.88836155
43TRIB30.85354719
44BMX0.81818366
45DAPK20.80589728
46EPHB10.79639980
47TXK0.76019455
48PDPK10.74407145
49RPS6KL10.72822911
50RPS6KC10.72822911
51CDK60.72087781
52LCK0.70616371
53TESK20.70178613
54HIPK20.68669413
55PDK10.68051909
56KSR20.67616150
57CDK120.66763706
58CSF1R0.65691930
59IRAK10.64713349
60JAK30.63577888
61TGFBR20.62290072
62TBK10.61555910
63MAPK40.61345483
64SMG10.61011321
65IKBKE0.60283858
66RPS6KA60.59964802
67MARK20.59675577
68MAP2K10.59375620
69PIM10.58874746
70RET0.57300490
71CDK190.54632052
72MAPK70.51757889
73STK100.50219541
74FYN0.49802584
75TTN0.49522533
76MAP2K60.48827894
77JAK10.47990079
78CAMK1D0.47985249
79STK110.44948172
80CDK40.43731757
81MAP3K80.43375835
82LRRK20.42932286
83RPS6KA20.42647979
84MAP2K20.40912577
85WNK10.40397663
86TIE10.40341227
87STK40.39799383
88MAP3K100.39335890
89SGK30.38642814
90EPHA30.38084618
91IKBKB0.36375576
92PRKCQ0.36204008
93PTK60.35848189
94BMPR20.35684163
95MAPKAPK20.33972023
96MAP3K70.33302145
97PDK20.31511487
98PRKAA20.31381012
99KSR10.30804634
100IRAK20.29879367

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005245.10836790
2Malaria_Homo sapiens_hsa051444.07896985
3Asthma_Homo sapiens_hsa053103.85340441
4African trypanosomiasis_Homo sapiens_hsa051433.23470330
5Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.73421450
6Osteoclast differentiation_Homo sapiens_hsa043802.32112119
7Leishmaniasis_Homo sapiens_hsa051402.20691539
8Staphylococcus aureus infection_Homo sapiens_hsa051502.14140787
9Nitrogen metabolism_Homo sapiens_hsa009102.10219830
10Hematopoietic cell lineage_Homo sapiens_hsa046401.93740355
11Other glycan degradation_Homo sapiens_hsa005111.80463065
12Tuberculosis_Homo sapiens_hsa051521.79848131
13B cell receptor signaling pathway_Homo sapiens_hsa046621.63889840
14Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.54280773
15Platelet activation_Homo sapiens_hsa046111.53595556
16Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.52912199
17NOD-like receptor signaling pathway_Homo sapiens_hsa046211.47422326
18Non-small cell lung cancer_Homo sapiens_hsa052231.42905505
19Acute myeloid leukemia_Homo sapiens_hsa052211.41729680
20Leukocyte transendothelial migration_Homo sapiens_hsa046701.39735478
21Transcriptional misregulation in cancer_Homo sapiens_hsa052021.34691688
22Legionellosis_Homo sapiens_hsa051341.31698727
23Pentose phosphate pathway_Homo sapiens_hsa000301.27644595
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.25543497
25Pancreatic cancer_Homo sapiens_hsa052121.24876649
26Carbohydrate digestion and absorption_Homo sapiens_hsa049731.24375701
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.23792910
28Chronic myeloid leukemia_Homo sapiens_hsa052201.22466172
29Chemokine signaling pathway_Homo sapiens_hsa040621.20869920
30Toll-like receptor signaling pathway_Homo sapiens_hsa046201.19035556
31Phagosome_Homo sapiens_hsa041451.06783984
32Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.04378795
33Amoebiasis_Homo sapiens_hsa051461.03516365
34Lysosome_Homo sapiens_hsa041421.02395321
35Hepatitis B_Homo sapiens_hsa051611.01833192
36Collecting duct acid secretion_Homo sapiens_hsa049661.01762547
37Pertussis_Homo sapiens_hsa051331.01759551
38Influenza A_Homo sapiens_hsa051641.01579060
39Regulation of autophagy_Homo sapiens_hsa041401.01076092
40Toxoplasmosis_Homo sapiens_hsa051450.95809599
41Jak-STAT signaling pathway_Homo sapiens_hsa046300.94882419
42Measles_Homo sapiens_hsa051620.93802575
43Adipocytokine signaling pathway_Homo sapiens_hsa049200.91672784
44Renal cell carcinoma_Homo sapiens_hsa052110.90289425
45TNF signaling pathway_Homo sapiens_hsa046680.90154277
46HIF-1 signaling pathway_Homo sapiens_hsa040660.89580301
47NF-kappa B signaling pathway_Homo sapiens_hsa040640.89023251
48Type II diabetes mellitus_Homo sapiens_hsa049300.85477619
49Herpes simplex infection_Homo sapiens_hsa051680.85015276
50Hepatitis C_Homo sapiens_hsa051600.80476913
51T cell receptor signaling pathway_Homo sapiens_hsa046600.80162106
52FoxO signaling pathway_Homo sapiens_hsa040680.79878272
53Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.79402552
54Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.77159301
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.70484188
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69260657
57VEGF signaling pathway_Homo sapiens_hsa043700.68025979
58Shigellosis_Homo sapiens_hsa051310.67956331
59RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.67912192
60Choline metabolism in cancer_Homo sapiens_hsa052310.66810505
61Salmonella infection_Homo sapiens_hsa051320.65781215
62Renin-angiotensin system_Homo sapiens_hsa046140.65317431
63Glycerophospholipid metabolism_Homo sapiens_hsa005640.65284806
64Apoptosis_Homo sapiens_hsa042100.62985571
65Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.61766062
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.59761543
67GnRH signaling pathway_Homo sapiens_hsa049120.59189444
68Bladder cancer_Homo sapiens_hsa052190.58568868
69Primary immunodeficiency_Homo sapiens_hsa053400.58048712
70Prolactin signaling pathway_Homo sapiens_hsa049170.53091550
71mTOR signaling pathway_Homo sapiens_hsa041500.52906099
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.52426606
73Endometrial cancer_Homo sapiens_hsa052130.51903017
74Intestinal immune network for IgA production_Homo sapiens_hsa046720.51748995
75Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51464831
76SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50675194
77Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.49956669
78ABC transporters_Homo sapiens_hsa020100.49568935
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48693672
80Viral carcinogenesis_Homo sapiens_hsa052030.47772458
81Rheumatoid arthritis_Homo sapiens_hsa053230.47067742
82Glioma_Homo sapiens_hsa052140.46562568
83Prostate cancer_Homo sapiens_hsa052150.46178141
84Salivary secretion_Homo sapiens_hsa049700.45863145
85Galactose metabolism_Homo sapiens_hsa000520.44755231
86Endocytosis_Homo sapiens_hsa041440.44626046
87Notch signaling pathway_Homo sapiens_hsa043300.44573482
88Systemic lupus erythematosus_Homo sapiens_hsa053220.44563764
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44317335
90Graft-versus-host disease_Homo sapiens_hsa053320.43660196
91Allograft rejection_Homo sapiens_hsa053300.43179699
92Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42218472
93Fructose and mannose metabolism_Homo sapiens_hsa000510.41372662
94Insulin signaling pathway_Homo sapiens_hsa049100.40448142
95Insulin resistance_Homo sapiens_hsa049310.40431765
96HTLV-I infection_Homo sapiens_hsa051660.40073411
97Inositol phosphate metabolism_Homo sapiens_hsa005620.39162325
98Central carbon metabolism in cancer_Homo sapiens_hsa052300.38922891
99Autoimmune thyroid disease_Homo sapiens_hsa053200.38825173
100Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.38779201

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