SLC11A1

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: This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by symbiont of host defense response (GO:0052031)7.40081242
2modulation by organism of immune response of other organism involved in symbiotic interaction (GO:007.40081242
3modulation by organism of defense response of other organism involved in symbiotic interaction (GO:07.40081242
4positive regulation by organism of defense response of other organism involved in symbiotic interact7.40081242
5modulation by symbiont of host immune response (GO:0052553)7.40081242
6positive regulation by symbiont of host defense response (GO:0052509)7.40081242
7regulation of interferon-beta biosynthetic process (GO:0045357)5.86740165
8neutrophil activation involved in immune response (GO:0002283)5.78029878
9macrophage activation involved in immune response (GO:0002281)5.53174426
10response to peptidoglycan (GO:0032494)5.20411691
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.19240790
12microglial cell activation (GO:0001774)5.12227623
13detection of other organism (GO:0098543)4.93350933
14response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.90067503
15response to host immune response (GO:0052572)4.90067503
16positive regulation of interferon-alpha production (GO:0032727)4.89273765
17regulation of B cell receptor signaling pathway (GO:0050855)4.86331454
18regulation of interferon-alpha production (GO:0032647)4.69077108
19positive regulation of interleukin-8 biosynthetic process (GO:0045416)4.61273998
20detection of bacterium (GO:0016045)4.61057440
21immunoglobulin mediated immune response (GO:0016064)4.51991136
22response to host defenses (GO:0052200)4.49738457
23response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.49738457
24response to host (GO:0075136)4.49738457
25detection of external biotic stimulus (GO:0098581)4.45335006
26regulation of gamma-delta T cell activation (GO:0046643)4.12577607
27regulation of mast cell degranulation (GO:0043304)4.12250018
28cellular extravasation (GO:0045123)4.10711882
29regulation of mononuclear cell migration (GO:0071675)4.09137792
30regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.06216770
31detection of biotic stimulus (GO:0009595)4.01777932
32positive regulation of mast cell activation (GO:0033005)3.99382327
33negative regulation of lymphocyte mediated immunity (GO:0002707)3.97837769
34* respiratory burst (GO:0045730)3.96369215
35positive regulation of cellular amide metabolic process (GO:0034250)3.90513791
36myeloid cell activation involved in immune response (GO:0002275)3.90507394
37granulocyte activation (GO:0036230)3.88312246
38regulation of mast cell activation involved in immune response (GO:0033006)3.87068473
39negative regulation of mast cell activation (GO:0033004)3.85150414
40* macrophage activation (GO:0042116)3.83156944
41neutrophil activation (GO:0042119)3.82435635
42positive regulation of chemokine biosynthetic process (GO:0045080)3.76262995
43regulation of mast cell activation (GO:0033003)3.72570325
44production of molecular mediator involved in inflammatory response (GO:0002532)3.72283598
45response to muramyl dipeptide (GO:0032495)3.71040759
46positive regulation of mast cell activation involved in immune response (GO:0033008)3.70303384
47positive regulation of mast cell degranulation (GO:0043306)3.70303384
48pinocytosis (GO:0006907)3.67792658
49lipopolysaccharide-mediated signaling pathway (GO:0031663)3.62311389
50positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.59906131
51hydrogen peroxide biosynthetic process (GO:0050665)3.59150271
52negative regulation of leukocyte mediated immunity (GO:0002704)3.58869896
53negative regulation of T cell mediated immunity (GO:0002710)3.56031395
54positive regulation of toll-like receptor signaling pathway (GO:0034123)3.50513022
55regulation of leukocyte degranulation (GO:0043300)3.46411855
56detection of molecule of bacterial origin (GO:0032490)3.45923932
57negative regulation of interleukin-12 production (GO:0032695)3.45289684
58positive regulation of interferon-beta production (GO:0032728)3.40604275
59neutrophil mediated immunity (GO:0002446)3.39254399
60negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.37574309
61negative regulation of cell killing (GO:0031342)3.37574309
62I-kappaB phosphorylation (GO:0007252)3.37386754
63negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.37285491
64regulation of myeloid leukocyte mediated immunity (GO:0002886)3.35959930
65regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.34670446
66positive regulation of leukocyte degranulation (GO:0043302)3.32193461
67regulation of cholesterol storage (GO:0010885)3.30999234
68superoxide anion generation (GO:0042554)3.29299952
69regulation of interleukin-8 biosynthetic process (GO:0045414)3.27367442
70neutrophil chemotaxis (GO:0030593)3.27171122
71myeloid leukocyte mediated immunity (GO:0002444)3.22955863
72positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.22855519
73negative regulation of cytokine production involved in immune response (GO:0002719)3.21225424
74leukocyte aggregation (GO:0070486)3.21138619
75low-density lipoprotein particle clearance (GO:0034383)3.21134970
76leukocyte degranulation (GO:0043299)3.19484149
77regulation of T-helper 2 cell differentiation (GO:0045628)3.18939558
78B cell mediated immunity (GO:0019724)3.18289413
79neutrophil migration (GO:1990266)3.17665768
80negative regulation of interleukin-1 production (GO:0032692)3.17282020
81regulation of tolerance induction (GO:0002643)3.17123498
82positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.17108197
83reactive oxygen species biosynthetic process (GO:1903409)3.14508782
84antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.13780220
85antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.13780220
86regulation of T cell tolerance induction (GO:0002664)3.12691561
87response to interleukin-15 (GO:0070672)3.12216461
88* positive regulation of antigen processing and presentation (GO:0002579)3.12044754
89germinal center formation (GO:0002467)3.11797198
90negative regulation of granulocyte differentiation (GO:0030853)3.11040431
91regulation of regulated secretory pathway (GO:1903305)3.10853637
92regulation of macrophage chemotaxis (GO:0010758)3.10750749
93regulation of gamma-delta T cell differentiation (GO:0045586)3.09503949
94negative regulation of interleukin-6 production (GO:0032715)3.09186526
95regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.08499664
96positive regulation of gamma-delta T cell activation (GO:0046645)3.08210433
97positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.08096681
98negative regulation of interleukin-1 beta production (GO:0032691)3.05442249
99lymphocyte chemotaxis (GO:0048247)3.01668160
100positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.00635814
101positive regulation of B cell differentiation (GO:0045579)3.00231317
102antigen processing and presentation of endogenous antigen (GO:0019883)2.99905137
103T-helper 1 type immune response (GO:0042088)2.98164848
104positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.97519220
105negative regulation of innate immune response (GO:0045824)2.97487733
106mannose metabolic process (GO:0006013)2.94275033
107interferon-gamma-mediated signaling pathway (GO:0060333)2.94136745
108negative regulation of alpha-beta T cell activation (GO:0046636)2.93717709
109negative regulation of erythrocyte differentiation (GO:0045647)2.93670089
110granulocyte chemotaxis (GO:0071621)2.92592581
111apoptotic cell clearance (GO:0043277)2.91208771
112regulation of interleukin-6 biosynthetic process (GO:0045408)2.89236744
113leukocyte migration involved in inflammatory response (GO:0002523)2.87713793
114negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.86422434
115regulation of T cell mediated cytotoxicity (GO:0001914)2.86400804
116negative regulation of T-helper cell differentiation (GO:0045623)2.85281268
117negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.85281268
118granulocyte migration (GO:0097530)2.84104775
119activated T cell proliferation (GO:0050798)2.83544637
120positive regulation of chemokine production (GO:0032722)2.82599811
121* myeloid leukocyte activation (GO:0002274)2.81613998
122regulation of integrin activation (GO:0033623)2.80820341
123glycosphingolipid catabolic process (GO:0046479)2.79273749
124cellular response to interleukin-15 (GO:0071350)2.79192010
125antigen processing and presentation via MHC class Ib (GO:0002475)2.78676799
126cellular response to type I interferon (GO:0071357)2.78160967
127type I interferon signaling pathway (GO:0060337)2.78160967
128Arp2/3 complex-mediated actin nucleation (GO:0034314)2.76856230
129response to type I interferon (GO:0034340)2.75433439
130hyaluronan catabolic process (GO:0030214)2.74893509
131natural killer cell mediated cytotoxicity (GO:0042267)2.74598855
132natural killer cell mediated immunity (GO:0002228)2.74598855
133* regulation of antigen processing and presentation (GO:0002577)2.74181058
134regulation of chemokine biosynthetic process (GO:0045073)2.73842324
135G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.73775720
136leukocyte mediated cytotoxicity (GO:0001909)2.73275862

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse7.28481224
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.97091365
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.55528871
4* IRF8_27001747_Chip-Seq_BMDM_Mouse4.96125376
5* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.76739495
6* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse4.09416642
7* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse4.01844888
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.47185237
9MYB_21317192_ChIP-Seq_ERMYB_Mouse3.22324531
10NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.14475367
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.14256065
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.96023469
13FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.71598692
14EGR1_19374776_ChIP-ChIP_THP-1_Human2.60192467
15STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.59850847
16* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.55282640
17SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.55070236
18STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.49367659
19RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.39116101
20SPI1_23547873_ChIP-Seq_NB4_Human2.31096619
21NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.29385622
22SPI1_23127762_ChIP-Seq_K562_Human2.18550463
23PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.16226490
24* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.99665025
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.95711040
26VDR_24763502_ChIP-Seq_THP-1_Human1.93532162
27SCL_19346495_ChIP-Seq_HPC-7_Human1.93321916
28* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.87049117
29* PU_27001747_Chip-Seq_BMDM_Mouse1.86953794
30CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.86687216
31* RUNX1_22412390_ChIP-Seq_EML_Mouse1.82921467
32VDR_24787735_ChIP-Seq_THP-1_Human1.81347753
33CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.74101206
34VDR_21846776_ChIP-Seq_THP-1_Human1.71333461
35PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.71230605
36STAT6_21828071_ChIP-Seq_BEAS2B_Human1.70536275
37VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.70219161
38RUNX_20019798_ChIP-Seq_JUKART_Human1.68343833
39MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.63069015
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.61722372
41ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.60618830
42CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.57195668
43MYB_26560356_Chip-Seq_TH2_Human1.51578989
44E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.49515252
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.48985622
46STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.48282653
47CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.48040962
48CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.46865330
49MAF_26560356_Chip-Seq_TH1_Human1.46779038
50FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.43606968
51NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.41426436
52SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.38138001
53GATA2_21666600_ChIP-Seq_HMVEC_Human1.34963633
54PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28890576
55* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.27740099
56PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25884899
57SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.25011177
58MYB_26560356_Chip-Seq_TH1_Human1.24029222
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.24003589
60VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.22515042
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.16976875
62* TCF7_22412390_ChIP-Seq_EML_Mouse1.15861647
63CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.15054398
64UTX_26944678_Chip-Seq_JUKART_Human1.14367035
65TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13756579
66* BCL6_27268052_Chip-Seq_Bcells_Human1.13713384
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.12637019
68SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10639323
69LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.09424013
70GATA3_27048872_Chip-Seq_THYMUS_Human1.07719000
71TFEB_21752829_ChIP-Seq_HELA_Human1.06499812
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05660398
73GATA1_19941826_ChIP-Seq_K562_Human1.04724764
74GATA3_26560356_Chip-Seq_TH2_Human1.04454726
75* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.02896088
76* BCOR_27268052_Chip-Seq_Bcells_Human1.01012603
77GATA1_19941827_ChIP-Seq_MEL_Mouse0.97369692
78GATA1_22383799_ChIP-Seq_G1ME_Mouse0.96914332
79LXR_22158963_ChIP-Seq_LIVER_Mouse0.96735749
80GATA1_22025678_ChIP-Seq_K562_Human0.95319895
81KDM2B_26808549_Chip-Seq_JURKAT_Human0.92380368
82GATA2_19941826_ChIP-Seq_K562_Human0.91524981
83RXR_22158963_ChIP-Seq_LIVER_Mouse0.90201606
84CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89641075
85* SPI1_20517297_ChIP-Seq_HL60_Human0.89639297
86SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89606375
87* PPARA_22158963_ChIP-Seq_LIVER_Mouse0.89017012
88ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.88646056
89LXR_22292898_ChIP-Seq_THP-1_Human0.87828035
90TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.86350680
91* EGR1_19032775_ChIP-ChIP_M12_Human0.86232101
92MYC_22102868_ChIP-Seq_BL_Human0.85186637
93RARG_19884340_ChIP-ChIP_MEFs_Mouse0.84249575
94MAF_26560356_Chip-Seq_TH2_Human0.83634207
95KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.83541750
96SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.82931868
97KDM2B_26808549_Chip-Seq_DND41_Human0.81332536
98SMRT_27268052_Chip-Seq_Bcells_Human0.80488259
99FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.80451254
100* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79139848
101* STAT1_20625510_ChIP-Seq_HELA_Human0.76214650
102* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75268058
103GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74364224
104CTCF_27219007_Chip-Seq_ERYTHROID_Human0.71905487
105RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.71754581
106KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.71705311
107DROSHA_22980978_ChIP-Seq_HELA_Human0.71334176
108GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70948027
109ESR1_21235772_ChIP-Seq_MCF-7_Human0.66563971
110IKZF1_21737484_ChIP-ChIP_HCT116_Human0.65472644
111NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.64445643
112NRF2_20460467_ChIP-Seq_MEFs_Mouse0.64445643
113JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.64389750
114PU.1_20513432_ChIP-Seq_Bcells_Mouse0.63114707
115TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.62926971

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology4.49859936
2MP0001835_abnormal_antigen_presentation4.09285838
3MP0003436_decreased_susceptibility_to3.92826536
4MP0003303_peritoneal_inflammation3.92116210
5MP0006082_CNS_inflammation3.46060312
6MP0002419_abnormal_innate_immunity3.27198828
7MP0009840_abnormal_foam_cell3.11704298
8MP0003172_abnormal_lysosome_physiology3.03021951
9MP0002148_abnormal_hypersensitivity_rea2.88836926
10MP0009785_altered_susceptibility_to2.87929033
11MP0005000_abnormal_immune_tolerance2.84058090
12MP0003191_abnormal_cellular_cholesterol2.69462178
13* MP0005025_abnormal_response_to2.61214455
14MP0001790_abnormal_immune_system2.53708938
15MP0005387_immune_system_phenotype2.53708938
16MP0002452_abnormal_antigen_presenting2.48042858
17MP0004510_myositis2.40750468
18MP0005464_abnormal_platelet_physiology2.37065627
19MP0003724_increased_susceptibility_to2.34463401
20MP0001533_abnormal_skeleton_physiology2.32103809
21MP0001800_abnormal_humoral_immune2.25107798
22MP0002723_abnormal_immune_serum2.18410543
23MP0000343_altered_response_to2.14314818
24MP0005671_abnormal_response_to2.09666805
25MP0000685_abnormal_immune_system2.02746999
26MP0003075_altered_response_to2.02690619
27MP0001819_abnormal_immune_cell2.00829161
28MP0002420_abnormal_adaptive_immunity1.98394512
29MP0002405_respiratory_system_inflammati1.92229959
30MP0003690_abnormal_glial_cell1.84878986
31MP0000604_amyloidosis1.84019024
32MP0001845_abnormal_inflammatory_respons1.79386584
33MP0004947_skin_inflammation1.77012292
34MP0009278_abnormal_bone_marrow1.71553359
35MP0003300_gastrointestinal_ulcer1.68849406
36MP0000569_abnormal_digit_pigmentation1.67287375
37MP0008469_abnormal_protein_level1.63790472
38MP0003448_altered_tumor_morphology1.60114708
39MP0001853_heart_inflammation1.59783848
40MP0009764_decreased_sensitivity_to1.55413778
41MP0002132_abnormal_respiratory_system1.51902863
42MP0003183_abnormal_peptide_metabolism1.47330613
43MP0009333_abnormal_splenocyte_physiolog1.42774475
44MP0005451_abnormal_body_composition1.41037720
45MP0002998_abnormal_bone_remodeling1.40865503
46MP0000716_abnormal_immune_system1.40577119
47MP0005166_decreased_susceptibility_to1.38043904
48MP0005167_abnormal_blood-brain_barrier1.35677033
49MP0005310_abnormal_salivary_gland1.31934809
50MP0003763_abnormal_thymus_physiology1.30858757
51MP0000689_abnormal_spleen_morphology1.29726915
52MP0001851_eye_inflammation1.29295699
53MP0003806_abnormal_nucleotide_metabolis1.27901285
54MP0010155_abnormal_intestine_physiology1.25151359
55MP0002933_joint_inflammation1.24586779
56MP0002398_abnormal_bone_marrow1.20698694
57MP0000465_gastrointestinal_hemorrhage1.14899014
58MP0000858_altered_metastatic_potential1.14146047
59MP0010307_abnormal_tumor_latency1.14101584
60MP0003866_abnormal_defecation1.13768561
61MP0002429_abnormal_blood_cell1.13755210
62MP0005257_abnormal_intraocular_pressure1.12670472
63MP0008004_abnormal_stomach_pH1.11870449
64MP0003566_abnormal_cell_adhesion1.11731767
65MP0005390_skeleton_phenotype1.09040785
66MP0001545_abnormal_hematopoietic_system1.07190210
67MP0005397_hematopoietic_system_phenotyp1.07190210
68MP0002722_abnormal_immune_system1.05011956
69MP0008438_abnormal_cutaneous_collagen1.04463631
70MP0002277_abnormal_respiratory_mucosa1.04000270
71MP0004381_abnormal_hair_follicle1.03065704
72MP0005164_abnormal_response_to1.01791169
73MP0001986_abnormal_taste_sensitivity1.01767671
74MP0002166_altered_tumor_susceptibility1.01309749
75MP0003828_pulmonary_edema1.00092668
76MP0004782_abnormal_surfactant_physiolog0.98095063
77MP0008260_abnormal_autophagy0.97475456
78MP0005076_abnormal_cell_differentiation0.96338357
79MP0000703_abnormal_thymus_morphology0.95200248
80MP0003656_abnormal_erythrocyte_physiolo0.94958369
81MP0009763_increased_sensitivity_to0.94359091
82MP0002006_tumorigenesis0.93611075
83MP0005174_abnormal_tail_pigmentation0.93298882
84MP0000249_abnormal_blood_vessel0.89392679
85MP0005023_abnormal_wound_healing0.84383440
86MP0002254_reproductive_system_inflammat0.83828666
87MP0003705_abnormal_hypodermis_morpholog0.81527592
88MP0003186_abnormal_redox_activity0.80166478
89MP0000767_abnormal_smooth_muscle0.80121494
90MP0004883_abnormal_blood_vessel0.78308347
91MP0002138_abnormal_hepatobiliary_system0.77065238
92MP0000371_diluted_coat_color0.76675208
93MP0009765_abnormal_xenobiotic_induced0.73925237
94MP0004858_abnormal_nervous_system0.71988947
95MP0000609_abnormal_liver_physiology0.71951758
96MP0003795_abnormal_bone_structure0.69325615
97MP0002090_abnormal_vision0.69025965
98MP0003453_abnormal_keratinocyte_physiol0.68575146
99MP0000015_abnormal_ear_pigmentation0.66182624
100MP0002332_abnormal_exercise_endurance0.66057243
101MP0000920_abnormal_myelination0.65222856
102MP0003045_fibrosis0.65013835
103MP0001873_stomach_inflammation0.65008092
104MP0002136_abnormal_kidney_physiology0.63381426
105MP0008874_decreased_physiological_sensi0.62458753
106MP0001958_emphysema0.61409443
107MP0003279_aneurysm0.61013783
108MP0004130_abnormal_muscle_cell0.60991400
109MP0001663_abnormal_digestive_system0.60694102
110MP0003329_amyloid_beta_deposits0.59654234
111MP0006054_spinal_hemorrhage0.59602375
112MP0001915_intracranial_hemorrhage0.59525520
113MP0003195_calcinosis0.59278135
114MP0005377_hearing/vestibular/ear_phenot0.57415257
115MP0003878_abnormal_ear_physiology0.57415257
116MP0003091_abnormal_cell_migration0.57366211
117MP0002396_abnormal_hematopoietic_system0.56836955
118MP0005319_abnormal_enzyme/_coenzyme0.55818026
119MP0002693_abnormal_pancreas_physiology0.55739648
120MP0004808_abnormal_hematopoietic_stem0.51369605
121MP0005075_abnormal_melanosome_morpholog0.49363954
122MP0002653_abnormal_ependyma_morphology0.48860937
123MP0002133_abnormal_respiratory_system0.47984951

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.12358626
2Systemic lupus erythematosus (HP:0002725)7.08241558
3Increased cerebral lipofuscin (HP:0011813)6.32750081
4Recurrent bacterial skin infections (HP:0005406)6.13101883
5Eczematoid dermatitis (HP:0000976)6.02345694
6Recurrent gram-negative bacterial infections (HP:0005420)5.90900399
7Increased neuronal autofluorescent lipopigment (HP:0002074)5.65580077
8Vacuolated lymphocytes (HP:0001922)5.49687669
9Glomerulonephritis (HP:0000099)5.27125245
10Abnormality of macrophages (HP:0004311)5.10163488
11Abnormality of glycosphingolipid metabolism (HP:0004343)4.72524260
12Abnormality of glycolipid metabolism (HP:0010969)4.72524260
13Abnormality of liposaccharide metabolism (HP:0010968)4.72524260
14Dysostosis multiplex (HP:0000943)4.57371586
15Complement deficiency (HP:0004431)3.98628259
16Axonal loss (HP:0003447)3.97277469
17Mediastinal lymphadenopathy (HP:0100721)3.80744381
18Abnormality of complement system (HP:0005339)3.80680770
19Keratoconjunctivitis sicca (HP:0001097)3.78640662
20Gastrointestinal infarctions (HP:0005244)3.76589945
21Chronic obstructive pulmonary disease (HP:0006510)3.72930745
22Obstructive lung disease (HP:0006536)3.72930745
23Disinhibition (HP:0000734)3.71825816
24Gingivitis (HP:0000230)3.70826711
25Urinary glycosaminoglycan excretion (HP:0003541)3.67385215
26Mucopolysacchariduria (HP:0008155)3.67385215
27Loss of speech (HP:0002371)3.58971316
28Keratoconjunctivitis (HP:0001096)3.56751891
29Encephalitis (HP:0002383)3.51640907
30Abnormality of polysaccharide metabolism (HP:0011012)3.51018872
31Abnormality of glycosaminoglycan metabolism (HP:0004371)3.51018872
32Abnormality of mucopolysaccharide metabolism (HP:0011020)3.51018872
33Recurrent skin infections (HP:0001581)3.51005866
34Myositis (HP:0100614)3.50182241
35Abnormal delayed hypersensitivity skin test (HP:0002963)3.38047681
36Orchitis (HP:0100796)3.35269433
37Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.28812770
38Hemoptysis (HP:0002105)3.24536821
39Stomatitis (HP:0010280)3.20681809
40Nephritis (HP:0000123)3.18508035
41Episodic fever (HP:0001954)3.15699854
42Elevated erythrocyte sedimentation rate (HP:0003565)3.12617245
43Autoimmune thrombocytopenia (HP:0001973)3.11221777
44Increased IgE level (HP:0003212)3.08270507
45Agnosia (HP:0010524)3.03804487
46Spontaneous hematomas (HP:0007420)3.00267768
47Prolonged bleeding time (HP:0003010)2.97649240
48Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.90519990
49Recurrent fungal infections (HP:0002841)2.89884873
50Myocardial infarction (HP:0001658)2.88397088
51Hepatosplenomegaly (HP:0001433)2.87674789
52Pustule (HP:0200039)2.84899536
53Retrobulbar optic neuritis (HP:0100654)2.82401004
54Optic neuritis (HP:0100653)2.82401004
55Chest pain (HP:0100749)2.80680285
56Urticaria (HP:0001025)2.75647554
57Anorexia (HP:0002039)2.71788620
58Upper motor neuron abnormality (HP:0002127)2.71651955
59Hematochezia (HP:0002573)2.71017016
60Prostate neoplasm (HP:0100787)2.65888850
61T lymphocytopenia (HP:0005403)2.62252989
62Pulmonary embolism (HP:0002204)2.58837337
63Cellulitis (HP:0100658)2.58788173
64Hypochromic microcytic anemia (HP:0004840)2.54353406
65Pathologic fracture (HP:0002756)2.52230308
66Abnormality of T cell number (HP:0011839)2.51628206
67Hypochromic anemia (HP:0001931)2.50980467
68Epistaxis (HP:0000421)2.48821083
69Periodontitis (HP:0000704)2.48601074
70Peritonitis (HP:0002586)2.44848912
71Basal ganglia calcification (HP:0002135)2.44451529
72Thick nail (HP:0001805)2.43880919
73J-shaped sella turcica (HP:0002680)2.42183804
74Recurrent viral infections (HP:0004429)2.41135366
75Gangrene (HP:0100758)2.38731070
76Purpura (HP:0000979)2.37972650
77Vasculitis (HP:0002633)2.35449296
78Amyloidosis (HP:0011034)2.33659782
79Osteomyelitis (HP:0002754)2.31898808
80Chronic otitis media (HP:0000389)2.28919354
81Abnormality of the pleura (HP:0002103)2.28609346
82Increased IgM level (HP:0003496)2.28283583
83Interstitial pulmonary disease (HP:0006530)2.26229050
84Thoracic kyphosis (HP:0002942)2.23103296
85Abnormality of the vasculature of the conjunctiva (HP:0008054)2.22667041
86Joint hemorrhage (HP:0005261)2.19736045
87Asymmetric septal hypertrophy (HP:0001670)2.19000536
88Abnormality of the endocardium (HP:0004306)2.16198982
89Pulmonary infiltrates (HP:0002113)2.15518077
90Abnormality of T cells (HP:0002843)2.15303469
91Meningitis (HP:0001287)2.15107325
92Vertigo (HP:0002321)2.14900246
93Leukocytosis (HP:0001974)2.14177693
94Polyneuropathy (HP:0001271)2.13294518
95Progressive visual loss (HP:0000529)2.12679286
96Bone pain (HP:0002653)2.11336470
97Panhypogammaglobulinemia (HP:0003139)2.09794498
98Recurrent pneumonia (HP:0006532)2.09349974
99Premature loss of primary teeth (HP:0006323)2.08619624
100Peripheral demyelination (HP:0011096)2.06408072
101Sepsis (HP:0100806)2.05846051
102Acne (HP:0001061)2.05675156
103Conjunctival telangiectasia (HP:0000524)2.05571711
104Colitis (HP:0002583)2.03764510
105Granulocytopenia (HP:0001913)2.01438575
106Gingival bleeding (HP:0000225)2.00643574
107Abnormality of transition element cation homeostasis (HP:0011030)1.98530467
108Inflammation of the large intestine (HP:0002037)1.98436826
109Hypergammaglobulinemia (HP:0010702)1.97508168
110Tetraparesis (HP:0002273)1.97396748
111Spondylolisthesis (HP:0003302)1.97018092
112Glomerulopathy (HP:0100820)1.96792760
113Arterial thrombosis (HP:0004420)1.96239772
114Cheilitis (HP:0100825)1.95635781
115Keratitis (HP:0000491)1.94733828
116Petechiae (HP:0000967)1.94653061
117Abnormality of the lumbar spine (HP:0100712)1.94429917
118Microcytic anemia (HP:0001935)1.92840250
119Abnormality of the pericardium (HP:0001697)1.90796237
120Increased serum ferritin (HP:0003281)1.89924319
121Abnormality of the peritoneum (HP:0002585)1.89475900
122Osteolytic defects of the phalanges of the hand (HP:0009771)1.89309755
123Osteolytic defects of the hand bones (HP:0009699)1.89309755
124Lymphopenia (HP:0001888)1.89140489
125Malnutrition (HP:0004395)1.88279598
126Progressive neurologic deterioration (HP:0002344)1.87933029
127Global brain atrophy (HP:0002283)1.87320413
128Diminished motivation (HP:0000745)1.87204720
129Neuronal loss in central nervous system (HP:0002529)1.85191158
130Apathy (HP:0000741)1.84933005
131Mutism (HP:0002300)1.84321082
132Retinal atrophy (HP:0001105)1.84252444
133Recurrent cutaneous fungal infections (HP:0011370)1.83119335
134Chronic mucocutaneous candidiasis (HP:0002728)1.83119335
135Deformed sella turcica (HP:0002681)1.82458120
136Nasal polyposis (HP:0100582)1.82285970
137Vertebral compression fractures (HP:0002953)1.82194567
138Inappropriate behavior (HP:0000719)1.81701470
139Abnormality of iron homeostasis (HP:0011031)1.81423173
140Abnormality of the nasal mucosa (HP:0000433)1.79828220
141Gastrointestinal inflammation (HP:0004386)1.79540965

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK3.87152029
2TBK13.44346919
3MAP3K143.38845257
4IRAK43.31681161
5TYK23.31040424
6RIPK43.22638420
7IRAK33.16044118
8TGFBR23.13197798
9ERN13.08995084
10KIT2.96092216
11MAP4K12.61922539
12TNK22.37099612
13IKBKE2.20712402
14CSF1R2.19237198
15TAOK11.93577496
16FGR1.92004137
17IKBKB1.91813823
18CSK1.91336626
19ZAP701.72341719
20EPHB11.70863606
21TXK1.70023899
22FES1.70013308
23JAK11.68053871
24CAMK1D1.66396394
25HCK1.65565928
26PRPF4B1.57708866
27PBK1.57368566
28SYK1.47065755
29GRK71.41672922
30JAK31.37918321
31TAOK31.36188343
32BTK1.34866337
33STK101.34809448
34LYN1.34480698
35CLK11.29767803
36IRAK11.26519348
37MATK1.26432205
38NEK91.24346137
39LCK1.18005437
40MAP2K31.15138838
41KSR21.11443888
42PKN21.11222744
43MAP3K131.10320792
44IRAK21.09683718
45SIK31.09133069
46BMX1.07299768
47JAK21.04702734
48TEC1.04576388
49MST1R1.03601317
50CHUK0.99857540
51CAMK1G0.98417538
52PAK40.97227285
53TRIB30.96424486
54ITK0.96313754
55MARK20.96298291
56TAOK20.89606507
57CDC42BPA0.89102589
58PTK60.88625243
59EGFR0.87856064
60PRKD20.87694949
61ACVR1B0.87050485
62RPS6KA40.86301554
63TTN0.85568603
64RIPK10.84855792
65CAMKK20.84489261
66MOS0.78687897
67PRKCD0.70245084
68ABL20.70111728
69MARK30.67246945
70PIM10.67024442
71NME20.66224869
72MAP3K30.65982405
73MAP3K60.65332162
74MAPK70.65108912
75MAP2K40.63824893
76PIM20.63718679
77ABL10.62789574
78GRK60.62688370
79MAP2K60.62184529
80CAMKK10.62079672
81FGFR40.60115849
82STK110.59539060
83SCYL20.57887642
84ADRBK20.57191800
85MAP3K70.56265511
86MAP3K110.55499797
87BMPR20.54582408
88MAP3K20.53505414
89PTK2B0.53341115
90LRRK20.52488081
91RPS6KA60.51805019
92TRPM70.50600577
93STK40.50154017
94SIK20.49691179
95MAP3K50.49689634
96FYN0.49277751
97FGFR30.48230170
98PRKCQ0.48102372
99TESK20.47784799
100SGK30.47054595
101KSR10.46939390
102CDK120.45968028
103FLT30.44786744
104CDK190.44198903
105RPS6KC10.43761190
106RPS6KL10.43761190
107MAPKAPK20.43261289
108PDPK10.42717434
109PRKG20.42256006
110IGF1R0.41945010
111PRKCH0.41890452
112PDK10.41439591
113CDK60.41151743
114YES10.41126640
115EIF2AK20.40352262
116ARAF0.37215986
117DAPK20.36927946
118SGK20.35850852
119DYRK1B0.34796124
120RPS6KA20.33334365
121HIPK20.32765445
122MAP3K10.32583716
123PRKCZ0.32166778
124RAF10.31056408
125EPHA30.29790161
126MAPK40.29188948
127ALK0.29016522
128ERBB30.28937999
129CAMK40.28493917
130KDR0.27342046
131MAPK120.26960203
132PIK3CG0.26196001
133INSR0.25897634

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051505.11976943
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.48603063
3Leishmaniasis_Homo sapiens_hsa051403.34518864
4* Lysosome_Homo sapiens_hsa041423.16473342
5Other glycan degradation_Homo sapiens_hsa005113.10811531
6Osteoclast differentiation_Homo sapiens_hsa043802.60377063
7Pertussis_Homo sapiens_hsa051332.58467217
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.53032484
9Legionellosis_Homo sapiens_hsa051342.32840376
10Malaria_Homo sapiens_hsa051442.25109548
11Tuberculosis_Homo sapiens_hsa051522.24923829
12Phagosome_Homo sapiens_hsa041452.00881065
13NF-kappa B signaling pathway_Homo sapiens_hsa040641.92676867
14Complement and coagulation cascades_Homo sapiens_hsa046101.86891907
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.80570347
16Rheumatoid arthritis_Homo sapiens_hsa053231.80327807
17B cell receptor signaling pathway_Homo sapiens_hsa046621.77755721
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.67437845
19Salmonella infection_Homo sapiens_hsa051321.65330924
20NOD-like receptor signaling pathway_Homo sapiens_hsa046211.65272426
21Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.64681601
22Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.64653974
23Antigen processing and presentation_Homo sapiens_hsa046121.52725790
24Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.48895447
25Measles_Homo sapiens_hsa051621.47903584
26Asthma_Homo sapiens_hsa053101.47008286
27Graft-versus-host disease_Homo sapiens_hsa053321.42811502
28Toxoplasmosis_Homo sapiens_hsa051451.39765077
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.39625683
30Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.36439278
31Influenza A_Homo sapiens_hsa051641.34464260
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.34097755
33TNF signaling pathway_Homo sapiens_hsa046681.32518415
34Hematopoietic cell lineage_Homo sapiens_hsa046401.30924511
35Chemokine signaling pathway_Homo sapiens_hsa040621.30287277
36Shigellosis_Homo sapiens_hsa051311.28207739
37Caffeine metabolism_Homo sapiens_hsa002321.25862542
38Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.21625235
39Intestinal immune network for IgA production_Homo sapiens_hsa046721.19352435
40Apoptosis_Homo sapiens_hsa042101.18850124
41Allograft rejection_Homo sapiens_hsa053301.12643760
42Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.12447584
43Prion diseases_Homo sapiens_hsa050201.07523695
44Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.03287103
45Leukocyte transendothelial migration_Homo sapiens_hsa046701.02850643
46Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.00282289
47Herpes simplex infection_Homo sapiens_hsa051680.98731222
48African trypanosomiasis_Homo sapiens_hsa051430.93375567
49Jak-STAT signaling pathway_Homo sapiens_hsa046300.92466916
50Amoebiasis_Homo sapiens_hsa051460.92015361
51Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.90415669
52Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89542432
53Hepatitis B_Homo sapiens_hsa051610.89505088
54Hepatitis C_Homo sapiens_hsa051600.83943273
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.82105075
56Viral myocarditis_Homo sapiens_hsa054160.72926753
57Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.71704279
58AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.69745116
59Non-small cell lung cancer_Homo sapiens_hsa052230.68896028
60Platelet activation_Homo sapiens_hsa046110.67795148
61Pancreatic cancer_Homo sapiens_hsa052120.67473407
62Collecting duct acid secretion_Homo sapiens_hsa049660.66289637
63Pentose and glucuronate interconversions_Homo sapiens_hsa000400.66289514
64Chronic myeloid leukemia_Homo sapiens_hsa052200.65619575
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.63303384
66Sphingolipid metabolism_Homo sapiens_hsa006000.62877208
67Endocytosis_Homo sapiens_hsa041440.61855784
68Acute myeloid leukemia_Homo sapiens_hsa052210.60466964
69GnRH signaling pathway_Homo sapiens_hsa049120.59631427
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.56111485
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.51523428
72T cell receptor signaling pathway_Homo sapiens_hsa046600.50149167
73Regulation of autophagy_Homo sapiens_hsa041400.49327349
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49001149
75FoxO signaling pathway_Homo sapiens_hsa040680.48934424
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.47946333
77Type I diabetes mellitus_Homo sapiens_hsa049400.47350407
78MAPK signaling pathway_Homo sapiens_hsa040100.46978894
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45649397
80HIF-1 signaling pathway_Homo sapiens_hsa040660.45645268
81ABC transporters_Homo sapiens_hsa020100.43494748
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42961042
83Bladder cancer_Homo sapiens_hsa052190.42894233
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41847478
85Notch signaling pathway_Homo sapiens_hsa043300.39898326
86Choline metabolism in cancer_Homo sapiens_hsa052310.39878529
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38355123
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.37603963
89Rap1 signaling pathway_Homo sapiens_hsa040150.37398475
90Primary immunodeficiency_Homo sapiens_hsa053400.36708770
91VEGF signaling pathway_Homo sapiens_hsa043700.36156212
92Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35953156
93Epstein-Barr virus infection_Homo sapiens_hsa051690.35929020
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35065603
95HTLV-I infection_Homo sapiens_hsa051660.31996115
96Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.30972672
97Estrogen signaling pathway_Homo sapiens_hsa049150.30867340
98Phosphatidylinositol signaling system_Homo sapiens_hsa040700.30377525
99Endometrial cancer_Homo sapiens_hsa052130.30066050
100Proteoglycans in cancer_Homo sapiens_hsa052050.29569260
101Type II diabetes mellitus_Homo sapiens_hsa049300.29274078
102Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29106637
103mTOR signaling pathway_Homo sapiens_hsa041500.28666289
104Prolactin signaling pathway_Homo sapiens_hsa049170.28642177
105Renin-angiotensin system_Homo sapiens_hsa046140.28296218
106* Mineral absorption_Homo sapiens_hsa049780.26390276
107Autoimmune thyroid disease_Homo sapiens_hsa053200.26363666
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.25104632
109Arachidonic acid metabolism_Homo sapiens_hsa005900.24062850
110Insulin resistance_Homo sapiens_hsa049310.23409572
111Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21911180
112Viral carcinogenesis_Homo sapiens_hsa052030.21458448
113Histidine metabolism_Homo sapiens_hsa003400.20270663
114Renal cell carcinoma_Homo sapiens_hsa052110.20157022
115Small cell lung cancer_Homo sapiens_hsa052220.19509983
116Starch and sucrose metabolism_Homo sapiens_hsa005000.17495019
117Galactose metabolism_Homo sapiens_hsa000520.17038363
118Dorso-ventral axis formation_Homo sapiens_hsa043200.16717778
119Arginine biosynthesis_Homo sapiens_hsa002200.15302485

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