CD209

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 encodes a transmembrane receptor and is often referred to as DC-SIGN because of its expression on the surface of dendritic cells and macrophages. The encoded protein is involved in the innate immune system and recognizes numerous evolutionarily divergent pathogens ranging from parasites to viruses with a large impact on public health. The protein is organized into three distinct domains: an N-terminal transmembrane domain, a tandem-repeat neck domain and C-type lectin carbohydrate recognition domain. The extracellular region consisting of the C-type lectin and neck domains has a dual function as a pathogen recognition receptor and a cell adhesion receptor by binding carbohydrate ligands on the surface of microbes and endogenous cells. The neck region is important for homo-oligomerization which allows the receptor to bind multivalent ligands with high avidity. Variations in the number of 23 amino acid repeats in the neck domain of this protein are rare but have a significant impact on ligand binding ability. This gene is closely related in terms of both sequence and function to a neighboring gene (GeneID 10332; often referred to as L-SIGN). DC-SIGN and L-SIGN differ in their ligand-binding properties and distribution. Alternative splicing results in multiple variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1eosinophil chemotaxis (GO:0048245)5.19705598
2eosinophil migration (GO:0072677)4.63805861
3glycosphingolipid catabolic process (GO:0046479)4.42721563
4positive regulation of mast cell activation (GO:0033005)4.31442217
5cellular extravasation (GO:0045123)4.23679366
6positive regulation of mast cell degranulation (GO:0043306)4.11922198
7positive regulation of mast cell activation involved in immune response (GO:0033008)4.11922198
8glycolipid catabolic process (GO:0019377)4.00417477
9positive regulation of antigen processing and presentation (GO:0002579)3.98378165
10T-helper 1 type immune response (GO:0042088)3.96344834
11oligosaccharide catabolic process (GO:0009313)3.91851462
12regulation of mononuclear cell migration (GO:0071675)3.88709088
13immunoglobulin mediated immune response (GO:0016064)3.80124144
14ceramide catabolic process (GO:0046514)3.76872061
15negative regulation of interleukin-12 production (GO:0032695)3.70975851
16positive regulation of gamma-delta T cell activation (GO:0046645)3.60739367
17amino sugar catabolic process (GO:0046348)3.59438904
18positive regulation of heat generation (GO:0031652)3.54524367
19regulation of mast cell activation (GO:0033003)3.53311768
20regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.51884640
21negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.45032814
22positive regulation of chemokine secretion (GO:0090197)3.38353093
23N-acetylneuraminate metabolic process (GO:0006054)3.33117471
24neutrophil activation involved in immune response (GO:0002283)3.30646036
25regulation of antigen processing and presentation (GO:0002577)3.28372675
26activated T cell proliferation (GO:0050798)3.24322671
27macrophage activation involved in immune response (GO:0002281)3.23099181
28membrane lipid catabolic process (GO:0046466)3.20620876
29angiotensin maturation (GO:0002003)3.20066831
30positive regulation of leukocyte degranulation (GO:0043302)3.19393482
31regulation of fever generation (GO:0031620)3.16970885
32sphingolipid catabolic process (GO:0030149)3.12499245
33positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.09323632
34regulation of mast cell degranulation (GO:0043304)3.07517049
35response to peptidoglycan (GO:0032494)3.06287663
36monocyte chemotaxis (GO:0002548)3.05627647
37positive regulation of monocyte chemotaxis (GO:0090026)3.02535713
38negative regulation of macrophage differentiation (GO:0045650)3.02402778
39regulation of hypersensitivity (GO:0002883)2.97560745
40lytic vacuole organization (GO:0080171)2.97085376
41lysosome organization (GO:0007040)2.97085376
42regulation of heat generation (GO:0031650)2.96745794
43regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.93061570
44mannose metabolic process (GO:0006013)2.92324197
45regulation of mast cell activation involved in immune response (GO:0033006)2.92321873
46intracellular pH reduction (GO:0051452)2.88978997
47regulation of inflammatory response to antigenic stimulus (GO:0002861)2.88182893
48interferon-gamma-mediated signaling pathway (GO:0060333)2.85955175
49myeloid dendritic cell differentiation (GO:0043011)2.81481595
50keratan sulfate catabolic process (GO:0042340)2.81302177
51positive regulation of calcium-mediated signaling (GO:0050850)2.77544516
52positive regulation of prostaglandin secretion (GO:0032308)2.77422443
53negative regulation of granulocyte differentiation (GO:0030853)2.77261076
54regulation of chemokine secretion (GO:0090196)2.73925119
55regulation of cholesterol storage (GO:0010885)2.71881247
56positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.69327129
57negative regulation of mast cell activation (GO:0033004)2.67888855
58regulation of gamma-delta T cell activation (GO:0046643)2.67662076
59cellular response to thyroid hormone stimulus (GO:0097067)2.64388869
60negative regulation of interleukin-1 beta production (GO:0032691)2.63961595
61regulation of dendritic cell antigen processing and presentation (GO:0002604)2.63782516
62regulation of macrophage chemotaxis (GO:0010758)2.61962441
63negative regulation of nitric oxide biosynthetic process (GO:0045019)2.60347421
64cellular response to ethanol (GO:0071361)2.60189218
65regulation of interferon-beta biosynthetic process (GO:0045357)2.60142933
66B cell mediated immunity (GO:0019724)2.59460509
67myeloid dendritic cell activation (GO:0001773)2.58328428
68pH reduction (GO:0045851)2.58292302
69granulocyte activation (GO:0036230)2.56846823
70fat-soluble vitamin biosynthetic process (GO:0042362)2.55082863
71response to protozoan (GO:0001562)2.53789235
72granulocyte chemotaxis (GO:0071621)2.52406032
73indole-containing compound catabolic process (GO:0042436)2.52116193
74indolalkylamine catabolic process (GO:0046218)2.52116193
75tryptophan catabolic process (GO:0006569)2.52116193
76regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.52041975
77apoptotic cell clearance (GO:0043277)2.52013255
78positive regulation by symbiont of host defense response (GO:0052509)2.51741348
79modulation by symbiont of host defense response (GO:0052031)2.51741348
80modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.51741348
81modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.51741348
82positive regulation by organism of defense response of other organism involved in symbiotic interact2.51741348
83modulation by symbiont of host immune response (GO:0052553)2.51741348
84positive regulation of cellular amide metabolic process (GO:0034250)2.51091603
85regulation of prostaglandin secretion (GO:0032306)2.48745837
86positive regulation of chemokine biosynthetic process (GO:0045080)2.47760559
87macrophage differentiation (GO:0030225)2.43290176
88microglial cell activation (GO:0001774)2.42141410
89granulocyte migration (GO:0097530)2.41343883
90positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.41142631
91cellular response to exogenous dsRNA (GO:0071360)2.41008709
92positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.40277060
93pinocytosis (GO:0006907)2.37132297
94regulation of interferon-alpha production (GO:0032647)2.36660193
95regulation of leukocyte degranulation (GO:0043300)2.36331223
96macrophage activation (GO:0042116)2.34826925
97positive regulation of type 2 immune response (GO:0002830)2.34329235
98positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.33946009
99negative regulation of interleukin-1 production (GO:0032692)2.33275870
100lipoxygenase pathway (GO:0019372)2.33183174

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.22350356
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.24191521
3BP1_19119308_ChIP-ChIP_Hs578T_Human3.72706775
4IRF8_27001747_Chip-Seq_BMDM_Mouse3.37109882
5SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.46434371
6Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.43801855
7GATA1_22025678_ChIP-Seq_K562_Human2.40520259
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.38881065
9* IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.38141640
10VDR_24787735_ChIP-Seq_THP-1_Human2.28177982
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.02947142
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.02076051
13VDR_22108803_ChIP-Seq_LS180_Human1.85084435
14PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.80873814
15CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.79453565
16LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.74856780
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.73511713
18MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.71604057
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.69560367
20* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.69495301
21VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.68766213
22STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.67727069
23PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.64356904
24ZNF274_21170338_ChIP-Seq_K562_Hela1.62324441
25SCL_19346495_ChIP-Seq_HPC-7_Human1.52788344
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.50657021
27SPI1_23127762_ChIP-Seq_K562_Human1.46398726
28EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.46229784
29EZH2_22144423_ChIP-Seq_EOC_Human1.42504610
30IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.41094107
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.38594918
32RUNX_20019798_ChIP-Seq_JUKART_Human1.31294003
33LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.31091800
34GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.25098031
35STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.20466188
36CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17534874
37GATA3_21878914_ChIP-Seq_MCF-7_Human1.13938736
38SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10234968
39SPI1_23547873_ChIP-Seq_NB4_Human1.09876970
40VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.09293951
41MYB_21317192_ChIP-Seq_ERMYB_Mouse1.08899378
42CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08164409
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.06971183
44ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06896943
45GATA3_26560356_Chip-Seq_TH2_Human1.06387448
46PRDM14_20953172_ChIP-Seq_ESCs_Human1.06328244
47BCAT_22108803_ChIP-Seq_LS180_Human1.06207059
48RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.05924778
49GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.05137098
50SMRT_27268052_Chip-Seq_Bcells_Human0.99792910
51GATA1_19941826_ChIP-Seq_K562_Human0.99588510
52STAT4_19710469_ChIP-ChIP_TH1__Mouse0.98310646
53VDR_24763502_ChIP-Seq_THP-1_Human0.97615168
54PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.96445051
55STAT1_20625510_ChIP-Seq_HELA_Human0.94680393
56MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.94075187
57PU_27001747_Chip-Seq_BMDM_Mouse0.92242119
58FOXA1_21572438_ChIP-Seq_LNCaP_Human0.90473155
59LXR_22158963_ChIP-Seq_LIVER_Mouse0.88949486
60DROSHA_22980978_ChIP-Seq_HELA_Human0.88087866
61CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.87867459
62FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.87533096
63GBX2_23144817_ChIP-Seq_PC3_Human0.86331189
64SOX2_19829295_ChIP-Seq_ESCs_Human0.85697795
65NANOG_19829295_ChIP-Seq_ESCs_Human0.85697795
66CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.85555700
67EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.85412034
68MYC_19829295_ChIP-Seq_ESCs_Human0.82381828
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.81871229
70E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.81346282
71PCGF2_27294783_Chip-Seq_ESCs_Mouse0.81041388
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.80997234
73TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80997234
74SUZ12_27294783_Chip-Seq_NPCs_Mouse0.80904653
75FOXH1_21741376_ChIP-Seq_ESCs_Human0.80492373
76NRF2_20460467_ChIP-Seq_MEFs_Mouse0.80351146
77NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.80351146
78GATA3_27048872_Chip-Seq_THYMUS_Human0.80170093
79CDX2_19796622_ChIP-Seq_MESCs_Mouse0.79491804
80BCL6_27268052_Chip-Seq_Bcells_Human0.79056853
81GATA1_19941827_ChIP-Seq_MEL_Mouse0.78966607
82AR_25329375_ChIP-Seq_VCAP_Human0.77261441
83TAF2_19829295_ChIP-Seq_ESCs_Human0.76095003
84AHR_22903824_ChIP-Seq_MCF-7_Human0.76001691
85CTBP1_25329375_ChIP-Seq_LNCAP_Human0.74134290
86FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.72604336
87GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.72399016
88SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.72359841
89EGR1_23403033_ChIP-Seq_LIVER_Mouse0.72354351
90P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.72086578
91NR3C1_21868756_ChIP-Seq_MCF10A_Human0.71457089
92CEBPB_22108803_ChIP-Seq_LS180_Human0.71389835
93EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.71347788
94GATA2_21666600_ChIP-Seq_HMVEC_Human0.71270768
95NANOG_20526341_ChIP-Seq_ESCs_Human0.71075265
96RAC3_21632823_ChIP-Seq_H3396_Human0.71037821
97CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.71007728
98FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.70621725
99PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.70493570
100PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.69815968

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to4.30602539
2MP0005058_abnormal_lysosome_morphology3.90071288
3MP0002148_abnormal_hypersensitivity_rea3.25985315
4MP0006082_CNS_inflammation3.09332290
5MP0003724_increased_susceptibility_to2.98352826
6MP0003303_peritoneal_inflammation2.98032932
7MP0003172_abnormal_lysosome_physiology2.78447950
8MP0001790_abnormal_immune_system2.76981322
9MP0005387_immune_system_phenotype2.76981322
10MP0000343_altered_response_to2.64310734
11MP0001835_abnormal_antigen_presentation2.58935343
12MP0002419_abnormal_innate_immunity2.52082964
13MP0009840_abnormal_foam_cell2.44289066
14MP0009785_altered_susceptibility_to2.35189239
15MP0003436_decreased_susceptibility_to2.22497474
16MP0005025_abnormal_response_to2.22300752
17MP0000569_abnormal_digit_pigmentation2.08324035
18MP0002452_abnormal_antigen_presenting2.04821263
19MP0005000_abnormal_immune_tolerance2.04463130
20MP0002139_abnormal_hepatobiliary_system2.02439410
21MP0003195_calcinosis2.01738909
22MP0000604_amyloidosis1.98026173
23MP0008004_abnormal_stomach_pH1.93855474
24MP0009764_decreased_sensitivity_to1.90824059
25MP0001986_abnormal_taste_sensitivity1.88903265
26MP0002723_abnormal_immune_serum1.87945773
27MP0005167_abnormal_blood-brain_barrier1.85155161
28MP0003075_altered_response_to1.85003209
29MP0001533_abnormal_skeleton_physiology1.84569694
30MP0001800_abnormal_humoral_immune1.79414629
31MP0000685_abnormal_immune_system1.79158776
32MP0003011_delayed_dark_adaptation1.76436431
33MP0005365_abnormal_bile_salt1.65956952
34MP0003300_gastrointestinal_ulcer1.62827199
35MP0001845_abnormal_inflammatory_respons1.62801034
36MP0001819_abnormal_immune_cell1.55498190
37MP0002405_respiratory_system_inflammati1.54514453
38MP0005647_abnormal_sex_gland1.53015177
39MP0002420_abnormal_adaptive_immunity1.52758540
40MP0005310_abnormal_salivary_gland1.50796688
41MP0008469_abnormal_protein_level1.44934379
42MP0002998_abnormal_bone_remodeling1.43016421
43MP0002277_abnormal_respiratory_mucosa1.41418448
44MP0005174_abnormal_tail_pigmentation1.37792051
45MP0010155_abnormal_intestine_physiology1.31226163
46MP0004947_skin_inflammation1.27654760
47MP0005166_decreased_susceptibility_to1.25614941
48MP0008875_abnormal_xenobiotic_pharmacok1.20498007
49MP0003878_abnormal_ear_physiology1.16107168
50MP0005377_hearing/vestibular/ear_phenot1.16107168
51MP0000015_abnormal_ear_pigmentation1.13653830
52MP0004019_abnormal_vitamin_homeostasis1.12306899
53MP0004742_abnormal_vestibular_system1.10417713
54MP0004510_myositis1.09396929
55MP0001501_abnormal_sleep_pattern1.06293991
56MP0003448_altered_tumor_morphology1.06025544
57MP0000920_abnormal_myelination1.04849871
58MP0010329_abnormal_lipoprotein_level1.04584365
59MP0001764_abnormal_homeostasis1.02517358
60MP0009115_abnormal_fat_cell1.02509257
61MP0005464_abnormal_platelet_physiology1.00627938
62MP0000716_abnormal_immune_system0.98571377
63MP0001663_abnormal_digestive_system0.97265364
64MP0001853_heart_inflammation0.97002407
65MP0001542_abnormal_bone_strength0.96631044
66MP0003183_abnormal_peptide_metabolism0.95222975
67MP0001727_abnormal_embryo_implantation0.94709429
68MP0003806_abnormal_nucleotide_metabolis0.94322865
69MP0003690_abnormal_glial_cell0.94161830
70MP0005397_hematopoietic_system_phenotyp0.94089530
71MP0001545_abnormal_hematopoietic_system0.94089530
72MP0002971_abnormal_brown_adipose0.92702604
73MP0001485_abnormal_pinna_reflex0.92481292
74MP0003279_aneurysm0.90521416
75MP0001958_emphysema0.89472302
76MP0003646_muscle_fatigue0.89285926
77MP0002254_reproductive_system_inflammat0.87751718
78MP0002138_abnormal_hepatobiliary_system0.85169988
79MP0002638_abnormal_pupillary_reflex0.84349147
80MP0000371_diluted_coat_color0.84211970
81MP0004147_increased_porphyrin_level0.84051909
82MP0002837_dystrophic_cardiac_calcinosis0.82569436
83MP0009333_abnormal_splenocyte_physiolog0.80948500
84MP0005360_urolithiasis0.80550629
85MP0003828_pulmonary_edema0.79030571
86MP0004130_abnormal_muscle_cell0.74381235
87MP0005334_abnormal_fat_pad0.74117670
88MP0002295_abnormal_pulmonary_circulatio0.73159926
89MP0002693_abnormal_pancreas_physiology0.72589667
90MP0005390_skeleton_phenotype0.72157061
91MP0000230_abnormal_systemic_arterial0.71525788
92MP0009278_abnormal_bone_marrow0.71369261
93MP0009643_abnormal_urine_homeostasis0.71261150
94MP0005670_abnormal_white_adipose0.70087517
95MP0002118_abnormal_lipid_homeostasis0.69983662
96MP0000465_gastrointestinal_hemorrhage0.69907191
97MP0000689_abnormal_spleen_morphology0.68148080
98MP0003879_abnormal_hair_cell0.67708061
99MP0002136_abnormal_kidney_physiology0.67677786
100MP0003191_abnormal_cellular_cholesterol0.66561155

Predicted human phenotypes

RankGene SetZ-score
1Vacuolated lymphocytes (HP:0001922)8.96611836
2Systemic lupus erythematosus (HP:0002725)6.85839320
3Abnormality of liposaccharide metabolism (HP:0010968)6.81540870
4Abnormality of glycosphingolipid metabolism (HP:0004343)6.81540870
5Abnormality of glycolipid metabolism (HP:0010969)6.81540870
6Increased cerebral lipofuscin (HP:0011813)5.48591709
7Increased neuronal autofluorescent lipopigment (HP:0002074)5.12412174
8Mutism (HP:0002300)5.11718867
9Spontaneous hematomas (HP:0007420)4.82455427
10Abnormality of macrophages (HP:0004311)4.45798545
11Dysostosis multiplex (HP:0000943)4.36653941
12Recurrent bacterial skin infections (HP:0005406)3.90878138
13Disinhibition (HP:0000734)3.76619012
14Recurrent abscess formation (HP:0002722)3.62094761
15Loss of speech (HP:0002371)3.60864187
16Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.47927236
17Glomerulonephritis (HP:0000099)3.37966688
18Abnormality of polysaccharide metabolism (HP:0011012)3.36582771
19Abnormality of glycosaminoglycan metabolism (HP:0004371)3.36582771
20Abnormality of mucopolysaccharide metabolism (HP:0011020)3.36582771
21Hematochezia (HP:0002573)2.97594341
22Mucopolysacchariduria (HP:0008155)2.96807783
23Urinary glycosaminoglycan excretion (HP:0003541)2.96807783
24Protuberant abdomen (HP:0001538)2.95071296
25Complement deficiency (HP:0004431)2.83745628
26Axonal loss (HP:0003447)2.82041221
27Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.66397637
28Orchitis (HP:0100796)2.66045040
29Stomatitis (HP:0010280)2.61566411
30Inappropriate behavior (HP:0000719)2.60584833
31Recurrent skin infections (HP:0001581)2.58348789
32Autoimmune thrombocytopenia (HP:0001973)2.58045441
33Retrobulbar optic neuritis (HP:0100654)2.55520313
34Optic neuritis (HP:0100653)2.55520313
35Myositis (HP:0100614)2.53245872
36Pustule (HP:0200039)2.51899025
37Recurrent gram-negative bacterial infections (HP:0005420)2.48185252
38Joint hemorrhage (HP:0005261)2.46988672
39Agnosia (HP:0010524)2.44659617
40Chronic mucocutaneous candidiasis (HP:0002728)2.42841228
41Recurrent cutaneous fungal infections (HP:0011370)2.42841228
42Hemoptysis (HP:0002105)2.36015921
43Congenital sensorineural hearing impairment (HP:0008527)2.32259937
44Agitation (HP:0000713)2.31002469
45Abolished electroretinogram (ERG) (HP:0000550)2.29221286
46Bone cyst (HP:0012062)2.28325917
47Decreased electroretinogram (ERG) amplitude (HP:0000654)2.24025344
48Decreased circulating renin level (HP:0003351)2.23985963
49Esophageal varix (HP:0002040)2.23975341
50Eczematoid dermatitis (HP:0000976)2.23949543
51Congenital stationary night blindness (HP:0007642)2.23455762
52Mediastinal lymphadenopathy (HP:0100721)2.20265321
53Steatorrhea (HP:0002570)2.20123846
54Progressive visual loss (HP:0000529)2.20050293
55Abnormality of proline metabolism (HP:0010907)2.15677989
56Hydroxyprolinuria (HP:0003080)2.15677989
57Nuclear cataract (HP:0100018)2.15335166
58Metaphyseal irregularity (HP:0003025)2.13747254
59Pulmonary infiltrates (HP:0002113)2.09070210
60Global brain atrophy (HP:0002283)2.06471234
61Recurrent fungal infections (HP:0002841)2.04786071
62Enlarged epiphyses (HP:0010580)2.00586446
63Cardiomegaly (HP:0001640)2.00571088
64Albinism (HP:0001022)1.97562098
65Purpura (HP:0000979)1.96757227
66Amyloidosis (HP:0011034)1.96691715
67Ventricular fibrillation (HP:0001663)1.94420663
68Abnormality of complement system (HP:0005339)1.91732210
69Hepatosplenomegaly (HP:0001433)1.89761864
70Nephritis (HP:0000123)1.88943327
71Thoracic kyphosis (HP:0002942)1.87078812
72Diminished motivation (HP:0000745)1.85524647
73Hyperventilation (HP:0002883)1.85517236
74Polyneuropathy (HP:0001271)1.83700651
75Upper motor neuron abnormality (HP:0002127)1.81305888
76Flat occiput (HP:0005469)1.81268298
77Apathy (HP:0000741)1.80304504
78Premature loss of primary teeth (HP:0006323)1.77330627
79Ulnar claw (HP:0001178)1.76963493
80Dementia (HP:0000726)1.75536746
81Peripheral demyelination (HP:0011096)1.74718016
82Keratoconjunctivitis (HP:0001096)1.74105374
83Vasculitis (HP:0002633)1.73480042
84Encephalitis (HP:0002383)1.72771765
85Adactyly (HP:0009776)1.72494415
86Abnormality of glutamine family amino acid metabolism (HP:0010902)1.71781825
87Asymmetric septal hypertrophy (HP:0001670)1.71724602
88Gingivitis (HP:0000230)1.70952201
89Abnormality of the vasculature of the conjunctiva (HP:0008054)1.69163959
90Memory impairment (HP:0002354)1.68534115
91Abnormality of transition element cation homeostasis (HP:0011030)1.67448319
92Congenital hepatic fibrosis (HP:0002612)1.66888072
93Fat malabsorption (HP:0002630)1.66609190
94Segmental peripheral demyelination/remyelination (HP:0003481)1.66383135
95Cheilitis (HP:0100825)1.66099860
96Increased CSF protein (HP:0002922)1.65098273
97Basal ganglia calcification (HP:0002135)1.64804846
98Polydipsia (HP:0001959)1.63617104
99Abnormal drinking behavior (HP:0030082)1.63617104
100Petechiae (HP:0000967)1.63558968

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK4.83565483
2ADRBK23.99604463
3ACVR1B3.39185838
4GRK73.17131316
5CAMKK22.65666913
6MAP3K142.52721919
7CSF1R2.40618222
8TGFBR22.35136532
9DAPK22.28589430
10TYK22.27146992
11CAMK1D2.24190019
12TXK2.11182730
13RIPK41.74925483
14TAOK31.72838022
15IKBKB1.70331745
16FRK1.64913807
17CAMK1G1.62394636
18MAP4K11.57891753
19GRK11.55911379
20MATK1.55844233
21DDR21.44292031
22MAP3K131.43604321
23CSK1.42980459
24SYK1.41326403
25ERN11.38916849
26NEK91.34548647
27CDC42BPA1.31668790
28TBK11.31057399
29INSRR1.29804309
30TGFBR11.27809784
31MAP3K111.23732194
32JAK31.21967390
33IRAK31.21313953
34FGR1.16676394
35LYN1.15762889
36PINK11.09307271
37IRAK41.07768286
38FES1.07205376
39CAMKK11.04659325
40KIT1.00607454
41IRAK10.99615151
42IKBKE0.95776959
43ADRBK10.92633031
44ZAP700.92229856
45BMPR1B0.89358747
46ITK0.88057012
47MAP3K90.87099306
48PIK3CG0.86115033
49ABL20.85214903
50LCK0.83439398
51PRKCQ0.82433272
52JAK10.80769892
53PNCK0.80274763
54PIM20.79535203
55MAPKAPK30.78555486
56CHUK0.78148474
57JAK20.78063583
58LIMK10.76399079
59MAP2K60.72859048
60RPS6KA60.70943064
61MAPK150.70235000
62TEC0.69247286
63BTK0.67963901
64RPS6KA20.66786001
65HCK0.66676066
66CASK0.65629449
67EPHB20.64779999
68OXSR10.63302958
69WNK40.62020286
70WNK30.61925171
71MAP4K20.59612777
72ABL10.58114408
73MOS0.57356784
74PTK2B0.55218305
75ZAK0.54799007
76TAOK10.54702945
77EPHA30.53800493
78PRKAA20.52556158
79TLK10.51990733
80CDK60.51704415
81PRKG20.51536857
82PDK10.47434517
83IGF1R0.47189919
84SIK20.47053967
85NME20.46528598
86NUAK10.45093984
87PDPK10.44533583
88SGK20.43949086
89RPS6KL10.43744146
90RPS6KC10.43744146
91TYRO30.43123715
92TNK20.41738570
93MARK30.38418839
94PRKACG0.37777149
95MAPK70.35822122
96PRKCG0.35163829
97MAP3K30.33974015
98PRKG10.33232149
99MAPK120.32422336
100TRPM70.32292413

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051503.90712096
2Asthma_Homo sapiens_hsa053103.56781811
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.24080168
4Lysosome_Homo sapiens_hsa041423.22367716
5Intestinal immune network for IgA production_Homo sapiens_hsa046723.13912787
6Allograft rejection_Homo sapiens_hsa053302.96282330
7Other glycan degradation_Homo sapiens_hsa005112.84442312
8Rheumatoid arthritis_Homo sapiens_hsa053232.58797706
9Autoimmune thyroid disease_Homo sapiens_hsa053202.55546445
10Graft-versus-host disease_Homo sapiens_hsa053322.48838900
11Leishmaniasis_Homo sapiens_hsa051402.27694406
12Hematopoietic cell lineage_Homo sapiens_hsa046402.26478120
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.23373753
14Type I diabetes mellitus_Homo sapiens_hsa049402.20718251
15* Tuberculosis_Homo sapiens_hsa051521.99187861
16Glycosaminoglycan degradation_Homo sapiens_hsa005311.95520016
17Osteoclast differentiation_Homo sapiens_hsa043801.90467956
18Linoleic acid metabolism_Homo sapiens_hsa005911.82809706
19Antigen processing and presentation_Homo sapiens_hsa046121.71511272
20Pertussis_Homo sapiens_hsa051331.68984923
21* Phagosome_Homo sapiens_hsa041451.57566535
22Toll-like receptor signaling pathway_Homo sapiens_hsa046201.49314755
23Complement and coagulation cascades_Homo sapiens_hsa046101.48441643
24NF-kappa B signaling pathway_Homo sapiens_hsa040641.43183599
25Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.39510286
26NOD-like receptor signaling pathway_Homo sapiens_hsa046211.27887902
27Collecting duct acid secretion_Homo sapiens_hsa049661.26532234
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.21206170
29Malaria_Homo sapiens_hsa051441.18077681
30Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.16252101
31Tryptophan metabolism_Homo sapiens_hsa003801.15263315
32Ether lipid metabolism_Homo sapiens_hsa005651.14999385
33Toxoplasmosis_Homo sapiens_hsa051451.14281847
34Mineral absorption_Homo sapiens_hsa049781.10252889
35Viral myocarditis_Homo sapiens_hsa054161.09240748
36Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.06117210
37Legionellosis_Homo sapiens_hsa051341.05635010
38Chemokine signaling pathway_Homo sapiens_hsa040621.04474074
39Arachidonic acid metabolism_Homo sapiens_hsa005901.02250726
40Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.00929860
41Primary bile acid biosynthesis_Homo sapiens_hsa001200.91832234
42TNF signaling pathway_Homo sapiens_hsa046680.91451244
43Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.83827935
44Steroid biosynthesis_Homo sapiens_hsa001000.83292554
45Phototransduction_Homo sapiens_hsa047440.81650711
46Sulfur metabolism_Homo sapiens_hsa009200.79053768
47Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78089972
48Renin-angiotensin system_Homo sapiens_hsa046140.77126831
49Influenza A_Homo sapiens_hsa051640.75435510
50PPAR signaling pathway_Homo sapiens_hsa033200.74291744
51African trypanosomiasis_Homo sapiens_hsa051430.71938356
52Primary immunodeficiency_Homo sapiens_hsa053400.71177371
53Histidine metabolism_Homo sapiens_hsa003400.69825603
54Caffeine metabolism_Homo sapiens_hsa002320.68849558
55Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.68147364
56Sphingolipid metabolism_Homo sapiens_hsa006000.62913783
57ABC transporters_Homo sapiens_hsa020100.61387001
58Ovarian steroidogenesis_Homo sapiens_hsa049130.61316549
59Fat digestion and absorption_Homo sapiens_hsa049750.60752754
60RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.54711945
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54528306
62Salmonella infection_Homo sapiens_hsa051320.54021867
63Jak-STAT signaling pathway_Homo sapiens_hsa046300.52552846
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52066143
65Nitrogen metabolism_Homo sapiens_hsa009100.50190474
66Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48613544
67Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.46914097
68Vitamin digestion and absorption_Homo sapiens_hsa049770.46598174
69B cell receptor signaling pathway_Homo sapiens_hsa046620.46419670
70Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41508945
71Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.41269456
72Renin secretion_Homo sapiens_hsa049240.40942828
73Chemical carcinogenesis_Homo sapiens_hsa052040.38805390
74Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38370359
75Maturity onset diabetes of the young_Homo sapiens_hsa049500.38360429
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.38046511
77Selenocompound metabolism_Homo sapiens_hsa004500.37439329
78Dorso-ventral axis formation_Homo sapiens_hsa043200.37360500
79Amoebiasis_Homo sapiens_hsa051460.33898900
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33030518
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32826037
82Prion diseases_Homo sapiens_hsa050200.32595181
83Galactose metabolism_Homo sapiens_hsa000520.29150289
84Herpes simplex infection_Homo sapiens_hsa051680.28315250
85Platelet activation_Homo sapiens_hsa046110.27489011
86Serotonergic synapse_Homo sapiens_hsa047260.27353350
87Cyanoamino acid metabolism_Homo sapiens_hsa004600.27297253
88Glycerolipid metabolism_Homo sapiens_hsa005610.27085081
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.25059356
90Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.23333152
91Steroid hormone biosynthesis_Homo sapiens_hsa001400.23094811
92Morphine addiction_Homo sapiens_hsa050320.21001945
93T cell receptor signaling pathway_Homo sapiens_hsa046600.20791611
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.20545849
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.20227766
96Oxidative phosphorylation_Homo sapiens_hsa001900.20074586
97Butanoate metabolism_Homo sapiens_hsa006500.19359777
98Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.18748725
99Peroxisome_Homo sapiens_hsa041460.18584557
100Retinol metabolism_Homo sapiens_hsa008300.17711538

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