DEFA1

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. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* innate immune response in mucosa (GO:0002227)9.87895726
2* defense response to fungus (GO:0050832)9.77757278
3* antimicrobial humoral response (GO:0019730)9.51331398
4* disruption of cells of other organism (GO:0044364)9.46858351
5* killing of cells of other organism (GO:0031640)9.46858351
6* mucosal immune response (GO:0002385)8.06631871
7oxygen transport (GO:0015671)7.81756891
8response to peptidoglycan (GO:0032494)7.68231764
9* organ or tissue specific immune response (GO:0002251)7.57928774
10protoporphyrinogen IX metabolic process (GO:0046501)7.26322253
11disruption of cells of other organism involved in symbiotic interaction (GO:0051818)7.25266788
12killing of cells in other organism involved in symbiotic interaction (GO:0051883)7.25266788
13* response to fungus (GO:0009620)7.21542153
14detection of other organism (GO:0098543)7.00833118
15detection of bacterium (GO:0016045)6.97924800
16protoporphyrinogen IX biosynthetic process (GO:0006782)6.85911027
17cellular extravasation (GO:0045123)6.73639110
18hemoglobin metabolic process (GO:0020027)6.68936029
19gas transport (GO:0015669)6.59285494
20positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.93949632
21negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)5.76806501
22negative regulation of interleukin-8 production (GO:0032717)5.53480456
23neutrophil activation involved in immune response (GO:0002283)5.47154303
24neutrophil activation (GO:0042119)5.25782441
25leukocyte migration involved in inflammatory response (GO:0002523)5.24374396
26negative regulation of erythrocyte differentiation (GO:0045647)5.02139700
27porphyrin-containing compound biosynthetic process (GO:0006779)4.94377446
28modulation of growth of symbiont involved in interaction with host (GO:0044144)4.93695190
29regulation of growth of symbiont in host (GO:0044126)4.93695190
30negative regulation of growth of symbiont in host (GO:0044130)4.93695190
31negative regulation of growth of symbiont involved in interaction with host (GO:0044146)4.93695190
32* cell killing (GO:0001906)4.92681192
33* defense response to Gram-positive bacterium (GO:0050830)4.84991969
34granulocyte activation (GO:0036230)4.81637073
35regulation of interleukin-8 biosynthetic process (GO:0045414)4.63763412
36detection of external biotic stimulus (GO:0098581)4.58312821
37leukocyte aggregation (GO:0070486)4.47408324
38detection of biotic stimulus (GO:0009595)4.36210612
39heme biosynthetic process (GO:0006783)4.28108741
40tetrapyrrole biosynthetic process (GO:0033014)4.27708775
41superoxide anion generation (GO:0042554)4.25644607
42erythrocyte maturation (GO:0043249)4.10944653
43regulation of natural killer cell differentiation (GO:0032823)4.10241116
44response to host immune response (GO:0052572)4.08156865
45response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.08156865
46erythrocyte development (GO:0048821)4.00622890
47response to methylmercury (GO:0051597)4.00207955
48myeloid cell development (GO:0061515)3.90896784
49neutrophil mediated immunity (GO:0002446)3.87668718
50negative regulation of interleukin-6 production (GO:0032715)3.86223655
51porphyrin-containing compound metabolic process (GO:0006778)3.84187561
52* defense response to bacterium (GO:0042742)3.81659013
53respiratory burst (GO:0045730)3.74760190
54* intracellular estrogen receptor signaling pathway (GO:0030520)3.71851513
55response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.68390200
56response to host (GO:0075136)3.68390200
57response to host defenses (GO:0052200)3.68390200
58negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.67223967
59imidazole-containing compound metabolic process (GO:0052803)3.55646101
60hydrogen peroxide catabolic process (GO:0042744)3.52704076
61positive regulation of gamma-delta T cell activation (GO:0046645)3.51714769
62regulation of mast cell degranulation (GO:0043304)3.43053709
63citrulline biosynthetic process (GO:0019240)3.42436870
64heme metabolic process (GO:0042168)3.38535392
65* response to bacterium (GO:0009617)3.38240943
66positive regulation of osteoblast proliferation (GO:0033690)3.18014122
67regulation of leukocyte degranulation (GO:0043300)3.16597500
68phagosome maturation (GO:0090382)3.15755005
69regulation of mast cell activation involved in immune response (GO:0033006)3.14730721
70leukocyte degranulation (GO:0043299)3.14420143
71activated T cell proliferation (GO:0050798)3.13625236
72regulation of myeloid leukocyte mediated immunity (GO:0002886)3.13256098
73neutrophil chemotaxis (GO:0030593)3.10969793
74megakaryocyte development (GO:0035855)3.10074131
75production of molecular mediator involved in inflammatory response (GO:0002532)3.08341623
76positive regulation of toll-like receptor signaling pathway (GO:0034123)3.06781772
773-UTR-mediated mRNA stabilization (GO:0070935)3.03954397
78neutrophil migration (GO:1990266)3.03210794
79* modification of morphology or physiology of other organism (GO:0035821)3.01327035
80regulation of mast cell activation (GO:0033003)2.99088507
81response to muramyl dipeptide (GO:0032495)2.96693379
82positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.93959565
83regulation of response to osmotic stress (GO:0047484)2.92784470
84myeloid leukocyte mediated immunity (GO:0002444)2.89517214
85regulation of regulated secretory pathway (GO:1903305)2.87356830
86negative regulation of tumor necrosis factor production (GO:0032720)2.83162318
87regulation of female gonad development (GO:2000194)2.81802392
88regulation of erythrocyte differentiation (GO:0045646)2.79230628
89cellular response to interleukin-6 (GO:0071354)2.76726280
90leukotriene biosynthetic process (GO:0019370)2.76501365
91leukotriene metabolic process (GO:0006691)2.75138621
92granulocyte migration (GO:0097530)2.73280753
93positive regulation of granulocyte differentiation (GO:0030854)2.68577004
94positive regulation of mast cell activation (GO:0033005)2.68393783
95positive regulation of B cell differentiation (GO:0045579)2.68312921
96mast cell activation (GO:0045576)2.66565369
97pentose-phosphate shunt (GO:0006098)2.65664125
98regulation of tumor necrosis factor superfamily cytokine production (GO:1903555)2.64465031
99negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.63006072
100* antibacterial humoral response (GO:0019731)10.2713814

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human4.46727448
2GATA1_22025678_ChIP-Seq_K562_Human4.28013099
3VDR_21846776_ChIP-Seq_THP-1_Human4.01576684
4SCL_19346495_ChIP-Seq_HPC-7_Human3.87167790
5MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.82934914
6GATA1_19941826_ChIP-Seq_K562_Human3.74413412
7VDR_24763502_ChIP-Seq_THP-1_Human3.65603393
8MYB_21317192_ChIP-Seq_ERMYB_Mouse3.50153415
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.17004696
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.74894105
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.72360812
12IRF8_27001747_Chip-Seq_BMDM_Mouse2.70574781
13SPI1_23547873_ChIP-Seq_NB4_Human2.69124282
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.62531972
15GATA1_19941827_ChIP-Seq_MEL_Mouse2.62513235
16TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.48826833
17GATA2_19941826_ChIP-Seq_K562_Human2.44955063
18RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.41100227
19BRD4_27068464_Chip-Seq_AML-cells_Mouse2.38872120
20IRF8_21731497_ChIP-ChIP_J774_Mouse2.37774073
21RUNX1_22412390_ChIP-Seq_EML_Mouse2.35994234
22MYC_22102868_ChIP-Seq_BL_Human2.35427583
23TCF7_22412390_ChIP-Seq_EML_Mouse2.34625181
24VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.32814031
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.30260264
26SPI1_23127762_ChIP-Seq_K562_Human2.17290150
27UTX_26944678_Chip-Seq_JUKART_Human2.16656681
28MAF_26560356_Chip-Seq_TH1_Human2.13076195
29GATA1_22383799_ChIP-Seq_G1ME_Mouse2.04737010
30STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.03354387
31MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.01853055
32GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.93185999
33KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.92298782
34E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.92185454
35STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.90707531
36FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.89615200
37MYB_26560356_Chip-Seq_TH2_Human1.88939615
38VDR_24787735_ChIP-Seq_THP-1_Human1.87934918
39KDM2B_26808549_Chip-Seq_DND41_Human1.84957092
40STAT4_19710469_ChIP-ChIP_TH1__Mouse1.83351901
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.80704704
42KDM2B_26808549_Chip-Seq_SUP-B15_Human1.77054810
43Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.75717951
44KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.75320165
45RUNX_20019798_ChIP-Seq_JUKART_Human1.73773180
46SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.72411204
47FOXM1_23109430_ChIP-Seq_U2OS_Human1.70250910
48LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.69085948
49GATA2_22383799_ChIP-Seq_G1ME_Mouse1.66436627
50SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.65290682
51MYB_26560356_Chip-Seq_TH1_Human1.64665125
52NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.61066503
53KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.59535704
54LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.58056660
55E2F7_22180533_ChIP-Seq_HELA_Human1.56375961
56CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.53889023
57PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.48693980
58LXR_22292898_ChIP-Seq_THP-1_Human1.48511847
59PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.48159507
60EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.44837346
61CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.41499504
62BCOR_27268052_Chip-Seq_Bcells_Human1.39544725
63GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.39066948
64PU_27001747_Chip-Seq_BMDM_Mouse1.38112055
65GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.37711217
66MAF_26560356_Chip-Seq_TH2_Human1.35651197
67RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.35397435
68NCOR1_26117541_ChIP-Seq_K562_Human1.35011504
69ELK3_25401928_ChIP-Seq_HUVEC_Human1.31044132
70SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.27766053
71ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.25690515
72TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23182402
73CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22601634
74TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21094145
75IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.18574214
76CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.16969304
77KDM2B_26808549_Chip-Seq_JURKAT_Human1.14129294
78CTCF_27219007_Chip-Seq_ERYTHROID_Human1.13353308
79IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.13071390
80SPI1_20517297_ChIP-Seq_HL60_Human1.10868299
81GATA3_27048872_Chip-Seq_THYMUS_Human1.10678476
82BCL6_27268052_Chip-Seq_Bcells_Human1.09628316
83CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06699447
84SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06489804
85STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06347714
86SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.04687819
87RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04610344
88ELF1_20517297_ChIP-Seq_JURKAT_Human1.02462783
89SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.00417088
90FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.00080630
91PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97018997
92GATA3_26560356_Chip-Seq_TH2_Human0.96331931
93ELF1_17652178_ChIP-ChIP_JURKAT_Human0.96151443
94P68_20966046_ChIP-Seq_HELA_Human0.95177677
95PU.1_20513432_ChIP-Seq_Bcells_Mouse0.93406916
96PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.91466039
97NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.90602096
98PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90295336
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.88839447
100CTCF_21964334_ChIP-Seq_BJAB-B_Human0.87896270

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo5.48208320
2MP0004147_increased_porphyrin_level5.14696574
3MP0003303_peritoneal_inflammation4.71674486
4MP0003436_decreased_susceptibility_to3.66029884
5MP0009785_altered_susceptibility_to3.43844960
6MP0009278_abnormal_bone_marrow3.41955492
7MP0002419_abnormal_innate_immunity3.16391527
8MP0005025_abnormal_response_to3.09064647
9MP0001545_abnormal_hematopoietic_system2.74333909
10MP0005397_hematopoietic_system_phenotyp2.74333909
11MP0005083_abnormal_biliary_tract2.63355958
12MP0005464_abnormal_platelet_physiology2.54754835
13MP0003724_increased_susceptibility_to2.41187847
14MP0001835_abnormal_antigen_presentation2.32841719
15MP0003172_abnormal_lysosome_physiology2.24954907
16MP0003828_pulmonary_edema2.19429741
17MP0000685_abnormal_immune_system2.14687011
18MP0002420_abnormal_adaptive_immunity2.02970876
19MP0001819_abnormal_immune_cell1.99414343
20MP0005000_abnormal_immune_tolerance1.98489248
21MP0008260_abnormal_autophagy1.89921111
22MP0002398_abnormal_bone_marrow1.89744377
23MP0002452_abnormal_antigen_presenting1.78669043
24MP0005387_immune_system_phenotype1.75803346
25MP0001790_abnormal_immune_system1.75803346
26MP0001800_abnormal_humoral_immune1.73552309
27MP0001533_abnormal_skeleton_physiology1.73177753
28MP0002138_abnormal_hepatobiliary_system1.70221353
29MP0002405_respiratory_system_inflammati1.68365146
30MP0002723_abnormal_immune_serum1.67796830
31MP0003191_abnormal_cellular_cholesterol1.67548132
32MP0002722_abnormal_immune_system1.65815808
33MP0000465_gastrointestinal_hemorrhage1.64882311
34MP0002009_preneoplasia1.62728706
35MP0002148_abnormal_hypersensitivity_rea1.62427113
36MP0001851_eye_inflammation1.61128071
37MP0003045_fibrosis1.60730144
38MP0005076_abnormal_cell_differentiation1.60081190
39MP0000689_abnormal_spleen_morphology1.59747405
40MP0003075_altered_response_to1.55437372
41MP0005058_abnormal_lysosome_morphology1.54660172
42MP0000716_abnormal_immune_system1.54246050
43MP0009764_decreased_sensitivity_to1.54208538
44MP0002166_altered_tumor_susceptibility1.52137176
45MP0001845_abnormal_inflammatory_respons1.51977796
46MP0004808_abnormal_hematopoietic_stem1.51039730
47MP0002429_abnormal_blood_cell1.48877257
48MP0003300_gastrointestinal_ulcer1.48530009
49MP0002132_abnormal_respiratory_system1.46852352
50MP0004947_skin_inflammation1.45767940
51MP0009333_abnormal_splenocyte_physiolog1.40093696
52MP0002396_abnormal_hematopoietic_system1.37152259
53MP0006082_CNS_inflammation1.36164604
54MP0005671_abnormal_response_to1.23775748
55MP0003763_abnormal_thymus_physiology1.22804198
56MP0000703_abnormal_thymus_morphology1.14475805
57MP0010155_abnormal_intestine_physiology1.12885359
58MP0005636_abnormal_mineral_homeostasis1.05800012
59MP0001853_heart_inflammation1.04722642
60MP0005164_abnormal_response_to1.04282771
61MP0008469_abnormal_protein_level1.04044465
62MP0004883_abnormal_blood_vessel1.01539815
63MP0003566_abnormal_cell_adhesion0.97497883
64MP0009765_abnormal_xenobiotic_induced0.96454204
65MP0004185_abnormal_adipocyte_glucose0.96317790
66MP0009931_abnormal_skin_appearance0.95175558
67MP0009763_increased_sensitivity_to0.92644861
68MP0003221_abnormal_cardiomyocyte_apopto0.90073399
69MP0002006_tumorigenesis0.87973255
70MP0000858_altered_metastatic_potential0.87865749
71MP0001663_abnormal_digestive_system0.87459910
72MP0000343_altered_response_to0.85979655
73MP0005166_decreased_susceptibility_to0.81656697
74MP0002998_abnormal_bone_remodeling0.80056080
75MP0000609_abnormal_liver_physiology0.72860910
76MP0003795_abnormal_bone_structure0.72845633
77MP0004130_abnormal_muscle_cell0.69346393
78MP0004510_myositis0.68096840
79MP0005390_skeleton_phenotype0.66074050
80MP0000249_abnormal_blood_vessel0.64848483
81MP0003866_abnormal_defecation0.62124412
82MP0000015_abnormal_ear_pigmentation0.59995235
83MP0002019_abnormal_tumor_incidence0.59956625
84MP0008004_abnormal_stomach_pH0.58693560
85MP0003448_altered_tumor_morphology0.58143381
86MP0000604_amyloidosis0.57086900
87MP0004381_abnormal_hair_follicle0.56819789
88MP0005075_abnormal_melanosome_morpholog0.56431065
89MP0000598_abnormal_liver_morphology0.55511623
90MP0005621_abnormal_cell_physiology0.55489947
91MP0002332_abnormal_exercise_endurance0.55402738
92MP0002095_abnormal_skin_pigmentation0.54605192
93MP0005319_abnormal_enzyme/_coenzyme0.54558947
94MP0003690_abnormal_glial_cell0.54218456
95MP0000490_abnormal_crypts_of0.53981947
96MP0005376_homeostasis/metabolism_phenot0.53902193
97MP0001986_abnormal_taste_sensitivity0.53135512
98MP0009115_abnormal_fat_cell0.53001953
99MP0004264_abnormal_extraembryonic_tissu0.52687824
100MP0005535_abnormal_body_temperature0.52344265

Predicted human phenotypes

RankGene SetZ-score
1Hypochromic anemia (HP:0001931)6.68086609
2Poikilocytosis (HP:0004447)6.20484988
3Microcytic anemia (HP:0001935)5.63715643
4Eczematoid dermatitis (HP:0000976)5.07236234
5Recurrent abscess formation (HP:0002722)5.06959339
6Recurrent bacterial skin infections (HP:0005406)5.04690557
7Polycythemia (HP:0001901)4.82567088
8Abnormal hemoglobin (HP:0011902)4.81295123
9Stomatitis (HP:0010280)4.25063787
10Abnormality of macrophages (HP:0004311)4.17386845
11Recurrent gram-negative bacterial infections (HP:0005420)4.12305702
12Cholelithiasis (HP:0001081)4.06475240
13Prolonged bleeding time (HP:0003010)3.97673043
14Toxemia of pregnancy (HP:0100603)3.94753196
15Paralysis (HP:0003470)3.86676894
16Abnormal gallbladder morphology (HP:0012437)3.64063467
17Chronic obstructive pulmonary disease (HP:0006510)3.62080515
18Obstructive lung disease (HP:0006536)3.62080515
19Abnormality of iron homeostasis (HP:0011031)3.59123903
20Reticulocytosis (HP:0001923)3.40906137
21Urticaria (HP:0001025)3.36393711
22Diaphragmatic weakness (HP:0009113)3.30375733
23Myositis (HP:0100614)3.23409897
24Abnormal delayed hypersensitivity skin test (HP:0002963)3.17306304
25Recurrent skin infections (HP:0001581)3.10515303
26Epistaxis (HP:0000421)3.09717369
27Petechiae (HP:0000967)3.09232995
28Mediastinal lymphadenopathy (HP:0100721)3.07094887
29Elevated erythrocyte sedimentation rate (HP:0003565)3.06083954
30Abnormality of transition element cation homeostasis (HP:0011030)3.01174891
31Abnormal platelet volume (HP:0011876)2.99375144
32Recurrent fungal infections (HP:0002841)2.99337506
33Gingivitis (HP:0000230)2.97766266
34Gastrointestinal infarctions (HP:0005244)2.95271680
35Acanthocytosis (HP:0001927)2.87747705
36Meningitis (HP:0001287)2.86873381
37Amyloidosis (HP:0011034)2.84778227
38Osteomyelitis (HP:0002754)2.84147857
39Cellulitis (HP:0100658)2.71355514
40Systemic lupus erythematosus (HP:0002725)2.66675325
41Abnormality of the gallbladder (HP:0005264)2.63099409
42Abnormality of the fingertips (HP:0001211)2.59124388
43Increased mean platelet volume (HP:0011877)2.58965016
44Recurrent cutaneous fungal infections (HP:0011370)2.55351958
45Chronic mucocutaneous candidiasis (HP:0002728)2.55351958
46Increased cerebral lipofuscin (HP:0011813)2.48077990
47Increased serum ferritin (HP:0003281)2.47919622
48Episodic fever (HP:0001954)2.47444173
49Gingival bleeding (HP:0000225)2.47257694
50Increased IgE level (HP:0003212)2.47160834
51Orchitis (HP:0100796)2.42658283
52Autoimmune thrombocytopenia (HP:0001973)2.39068970
53Keratoconjunctivitis sicca (HP:0001097)2.37888228
54Optic neuritis (HP:0100653)2.34094610
55Retrobulbar optic neuritis (HP:0100654)2.34094610
56Recurrent viral infections (HP:0004429)2.33630392
57Anorexia (HP:0002039)2.32040211
58Granulocytopenia (HP:0001913)2.30368464
59Ileus (HP:0002595)2.27890310
60Hepatosplenomegaly (HP:0001433)2.26910658
61Increased neuronal autofluorescent lipopigment (HP:0002074)2.22183569
62Pustule (HP:0200039)2.21453776
63Vasculitis (HP:0002633)2.20757039
64Abnormality of reticulocytes (HP:0004312)2.19877542
65Thrombophlebitis (HP:0004418)2.19563448
66Leukocytosis (HP:0001974)2.18851688
67Keratoconjunctivitis (HP:0001096)2.15558267
68Abnormal platelet function (HP:0011869)2.12012548
69Impaired platelet aggregation (HP:0003540)2.12012548
70Cutaneous photosensitivity (HP:0000992)2.11118570
71Menorrhagia (HP:0000132)2.10297337
72Abnormal gallbladder physiology (HP:0012438)2.08107772
73Cholecystitis (HP:0001082)2.08107772
74Encephalitis (HP:0002383)2.03317814
75Pallor (HP:0000980)2.03308608
76Hypochromic microcytic anemia (HP:0004840)11.5041261
77Abnormality of the heme biosynthetic pathway (HP:0010472)10.4905018
78Spontaneous hematomas (HP:0007420)1.98644919
79Hyperbilirubinemia (HP:0002904)1.96993757
80Hypertensive crisis (HP:0100735)1.96956405
81Hemoptysis (HP:0002105)1.96750536
82Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.95252353
83Pulmonary infiltrates (HP:0002113)1.95195909
84Paresthesia (HP:0003401)1.94586420
85Purpura (HP:0000979)1.93506393
86Chest pain (HP:0100749)1.93361282
87Abnormality of liposaccharide metabolism (HP:0010968)1.88505652
88Abnormality of glycosphingolipid metabolism (HP:0004343)1.88505652
89Abnormality of glycolipid metabolism (HP:0010969)1.88505652
90Abnormality of T cell physiology (HP:0011840)1.84127553
91Skin rash (HP:0000988)1.83450376
92Inflammation of the large intestine (HP:0002037)1.81825803
93Colitis (HP:0002583)1.80430010
94Difficulty running (HP:0009046)1.78635313
95Abnormality of B cell number (HP:0010975)1.78057743
96Hypertriglyceridemia (HP:0002155)1.76479495
97Abnormality of the pericardium (HP:0001697)1.76230487
98Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.75164303
99Slow saccadic eye movements (HP:0000514)1.75064950
100Nausea (HP:0002018)1.74872947

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRPF4B5.02731629
2MAP2K34.97110445
3RIPK44.01806314
4GRK63.48436928
5TAOK12.95512371
6MAP3K32.66830061
7TAOK22.64746447
8BLK2.27477138
9FES2.26180164
10MAP3K112.25714033
11IRAK42.15157090
12MAP3K62.08014010
13TNK22.03239175
14ZAP701.98045147
15SYK1.91567612
16TEC1.87763106
17BTK1.86625128
18MAP4K11.85232177
19PIK3CG1.80121015
20ERN11.73559358
21TYK21.69434779
22FGR1.59236291
23MAP3K11.30867157
24HCK1.21170272
25CSK1.18466551
26MAP3K141.16260041
27MAPK121.16060361
28LYN1.15814439
29MAP3K51.13552869
30JAK21.12710631
31EIF2AK11.12513748
32MAP3K131.07685516
33EPHB11.07574604
34IRAK11.03872504
35KSR21.02419603
36CAMK1D1.00848375
37CLK11.00554539
38TRPM71.00105932
39PDK20.98660015
40PTK2B0.98656424
41MARK30.96586185
42TRIB30.94266687
43MAP2K40.92395605
44ITK0.90455648
45CDK120.88927327
46IKBKE0.88784255
47MAPK70.87860690
48TXK0.85253003
49TESK20.85174216
50IRAK20.80031677
51DAPK20.77897087
52YES10.75642238
53PDPK10.73609756
54MARK20.72992328
55TBK10.72329736
56PIK3CA0.72258616
57BMPR20.69739562
58KIT0.67287439
59PDK10.66072394
60LCK0.65323535
61HIPK20.64562066
62PIM10.64020836
63RET0.63982641
64RPS6KL10.63627835
65RPS6KC10.63627835
66JAK10.59498411
67JAK30.58963193
68EPHA30.56597585
69BMX0.56333990
70IKBKB0.53939580
71CDK60.52817505
72TTN0.52047630
73RPS6KA60.51738593
74CAMK1G0.51595205
75KSR10.51512339
76MAPK40.50808037
77SGK30.49572658
78SMG10.49538854
79MAP2K20.48356379
80MAP2K10.46842009
81MAP2K60.46530495
82STK110.45404075
83PTK60.43789438
84STK100.43027637
85FYN0.41956108
86SIK30.41358797
87MAP3K70.40840699
88PRKAA20.40235618
89WNK10.39280719
90RAF10.39173592
91TGFBR20.37970139
92MAP3K80.37858980
93CDK190.37721297
94STK40.36990837
95RPS6KA20.36405912
96PRKCQ0.34701005
97SIK20.34055326
98SGK20.33928711
99IRAK30.32324281
100PRKD20.31971433

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.58197544
2Malaria_Homo sapiens_hsa051443.64233299
3Asthma_Homo sapiens_hsa053102.74230142
4African trypanosomiasis_Homo sapiens_hsa051432.71720558
5Osteoclast differentiation_Homo sapiens_hsa043802.44460565
6Leishmaniasis_Homo sapiens_hsa051402.28348619
7Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.17956042
8Staphylococcus aureus infection_Homo sapiens_hsa051502.10540127
9Other glycan degradation_Homo sapiens_hsa005111.87404709
10Tuberculosis_Homo sapiens_hsa051521.84031131
11NOD-like receptor signaling pathway_Homo sapiens_hsa046211.74444253
12B cell receptor signaling pathway_Homo sapiens_hsa046621.74305017
13Non-small cell lung cancer_Homo sapiens_hsa052231.73076919
14Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.69942997
15Hematopoietic cell lineage_Homo sapiens_hsa046401.62563788
16Acute myeloid leukemia_Homo sapiens_hsa052211.61381290
17Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.60220369
18Nitrogen metabolism_Homo sapiens_hsa009101.50894953
19Legionellosis_Homo sapiens_hsa051341.48751773
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.44299300
21Leukocyte transendothelial migration_Homo sapiens_hsa046701.36665437
22Pancreatic cancer_Homo sapiens_hsa052121.35630261
23Chronic myeloid leukemia_Homo sapiens_hsa052201.32335913
24Platelet activation_Homo sapiens_hsa046111.31742334
25Chemokine signaling pathway_Homo sapiens_hsa040621.28881495
26Carbohydrate digestion and absorption_Homo sapiens_hsa049731.26874208
27Transcriptional misregulation in cancer_Homo sapiens_hsa052021.26017481
28Influenza A_Homo sapiens_hsa051641.21068128
29Pentose phosphate pathway_Homo sapiens_hsa000301.19936697
30Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.18909385
31Pertussis_Homo sapiens_hsa051331.18000140
32Hepatitis B_Homo sapiens_hsa051611.17455232
33Amoebiasis_Homo sapiens_hsa051461.13920434
34Toxoplasmosis_Homo sapiens_hsa051451.10656989
35Renal cell carcinoma_Homo sapiens_hsa052111.10074183
36TNF signaling pathway_Homo sapiens_hsa046681.08142296
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.07331112
38NF-kappa B signaling pathway_Homo sapiens_hsa040641.06050598
39Jak-STAT signaling pathway_Homo sapiens_hsa046301.05029724
40Phagosome_Homo sapiens_hsa041451.04236704
41Regulation of autophagy_Homo sapiens_hsa041401.01982007
42Type II diabetes mellitus_Homo sapiens_hsa049301.00112184
43FoxO signaling pathway_Homo sapiens_hsa040680.99731988
44T cell receptor signaling pathway_Homo sapiens_hsa046600.99700012
45Measles_Homo sapiens_hsa051620.99073709
46Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.97483862
47Glycosaminoglycan degradation_Homo sapiens_hsa005310.96735583
48HIF-1 signaling pathway_Homo sapiens_hsa040660.96314008
49Adipocytokine signaling pathway_Homo sapiens_hsa049200.95912140
50Hepatitis C_Homo sapiens_hsa051600.95582975
51VEGF signaling pathway_Homo sapiens_hsa043700.91509842
52Lysosome_Homo sapiens_hsa041420.88673422
53Herpes simplex infection_Homo sapiens_hsa051680.87755254
54RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.87179365
55Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.86696760
56Neurotrophin signaling pathway_Homo sapiens_hsa047220.86560862
57Bladder cancer_Homo sapiens_hsa052190.85166841
58Salmonella infection_Homo sapiens_hsa051320.81557214
59Choline metabolism in cancer_Homo sapiens_hsa052310.80398154
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.79875072
61Endometrial cancer_Homo sapiens_hsa052130.78824603
62GnRH signaling pathway_Homo sapiens_hsa049120.76880104
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76493447
64Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.76402108
65Shigellosis_Homo sapiens_hsa051310.75497809
66Prolactin signaling pathway_Homo sapiens_hsa049170.74455779
67Apoptosis_Homo sapiens_hsa042100.73765860
68mTOR signaling pathway_Homo sapiens_hsa041500.73172474
69Phosphatidylinositol signaling system_Homo sapiens_hsa040700.71777359
70Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70217466
71Collecting duct acid secretion_Homo sapiens_hsa049660.69096387
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.67316983
73Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64859527
74Glioma_Homo sapiens_hsa052140.63369023
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.62856500
76Prostate cancer_Homo sapiens_hsa052150.62525223
77Phospholipase D signaling pathway_Homo sapiens_hsa040720.60328078
78Inositol phosphate metabolism_Homo sapiens_hsa005620.60193525
79Viral carcinogenesis_Homo sapiens_hsa052030.59957795
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58094701
81Dorso-ventral axis formation_Homo sapiens_hsa043200.57021676
82Primary immunodeficiency_Homo sapiens_hsa053400.55088105
83Graft-versus-host disease_Homo sapiens_hsa053320.54750634
84Systemic lupus erythematosus_Homo sapiens_hsa053220.52465494
85Insulin resistance_Homo sapiens_hsa049310.51773640
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.51150646
87Insulin signaling pathway_Homo sapiens_hsa049100.49909535
88Allograft rejection_Homo sapiens_hsa053300.49699771
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.49494457
90Central carbon metabolism in cancer_Homo sapiens_hsa052300.48045254
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.47209303
92Colorectal cancer_Homo sapiens_hsa052100.46373376
93Autoimmune thyroid disease_Homo sapiens_hsa053200.44850770
94Rheumatoid arthritis_Homo sapiens_hsa053230.44836593
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44311443
96Notch signaling pathway_Homo sapiens_hsa043300.43885681
97HTLV-I infection_Homo sapiens_hsa051660.43596310
98Endocytosis_Homo sapiens_hsa041440.42588631
99Epstein-Barr virus infection_Homo sapiens_hsa051690.41693071
100ABC transporters_Homo sapiens_hsa020100.40299758

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