CARD9

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neutrophil mediated immunity (GO:0002446)5.63648035
2modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.43165917
3positive regulation by organism of defense response of other organism involved in symbiotic interact5.43165917
4modulation by symbiont of host immune response (GO:0052553)5.43165917
5positive regulation by symbiont of host defense response (GO:0052509)5.43165917
6modulation by symbiont of host defense response (GO:0052031)5.43165917
7modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.43165917
8respiratory burst (GO:0045730)5.43023400
9neutrophil activation involved in immune response (GO:0002283)5.14649552
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.93050617
11negative regulation of cell killing (GO:0031342)4.93050617
12defense response to fungus (GO:0050832)4.90879297
13cellular extravasation (GO:0045123)4.72831490
14negative regulation of erythrocyte differentiation (GO:0045647)4.72470636
15negative regulation of phagocytosis (GO:0050765)4.68234165
16* response to fungus (GO:0009620)4.66783831
17regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.65977889
18leukocyte aggregation (GO:0070486)4.57037575
19detection of other organism (GO:0098543)4.48195641
20regulation of B cell receptor signaling pathway (GO:0050855)4.40761822
21regulation of interferon-beta biosynthetic process (GO:0045357)4.39822295
22leukocyte migration involved in inflammatory response (GO:0002523)4.36477870
23detection of bacterium (GO:0016045)4.36247520
24myeloid leukocyte mediated immunity (GO:0002444)4.32703685
25macrophage activation involved in immune response (GO:0002281)4.32545086
26* response to peptidoglycan (GO:0032494)4.29825780
27disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.28195163
28killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.28195163
29neutrophil activation (GO:0042119)4.11989701
30antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.09157375
31antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.09157375
32positive regulation of myeloid leukocyte mediated immunity (GO:0002888)4.07914383
33positive regulation of B cell differentiation (GO:0045579)4.04846702
34antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.99941720
35positive regulation of gamma-delta T cell activation (GO:0046645)3.97516842
36detection of external biotic stimulus (GO:0098581)3.91929594
37leukocyte mediated cytotoxicity (GO:0001909)3.88614898
38negative regulation of granulocyte differentiation (GO:0030853)3.88596545
39positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.88104946
40granulocyte activation (GO:0036230)3.87492671
41immunoglobulin mediated immune response (GO:0016064)3.81731868
42leukotriene metabolic process (GO:0006691)3.80825608
43pinocytosis (GO:0006907)3.78429720
44mannose metabolic process (GO:0006013)3.76475058
45response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.76348545
46response to host immune response (GO:0052572)3.76348545
47detection of molecule of bacterial origin (GO:0032490)3.75491011
48Arp2/3 complex-mediated actin nucleation (GO:0034314)3.74398529
49positive regulation of antigen processing and presentation (GO:0002579)3.71458575
50regulation of mast cell degranulation (GO:0043304)3.70058814
51regulation of gamma-delta T cell activation (GO:0046643)3.69688804
52myeloid cell activation involved in immune response (GO:0002275)3.66868267
53regulation of hypersensitivity (GO:0002883)3.65725023
54superoxide anion generation (GO:0042554)3.63400710
55antigen processing and presentation of endogenous antigen (GO:0019883)3.62475940
56macrophage differentiation (GO:0030225)3.62347362
57negative regulation of interleukin-12 production (GO:0032695)3.61047042
58reactive oxygen species biosynthetic process (GO:1903409)3.60686733
59detection of biotic stimulus (GO:0009595)3.55488929
60modulation of growth of symbiont involved in interaction with host (GO:0044144)3.53482613
61regulation of growth of symbiont in host (GO:0044126)3.53482613
62negative regulation of growth of symbiont in host (GO:0044130)3.53482613
63negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.53482613
64positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.51080655
65regulation of regulated secretory pathway (GO:1903305)3.48976303
66production of molecular mediator involved in inflammatory response (GO:0002532)3.47717083
67regulation of mast cell activation (GO:0033003)3.46627168
68positive regulation of leukocyte degranulation (GO:0043302)3.43846529
69regulation of mast cell activation involved in immune response (GO:0033006)3.43564728
70glycosphingolipid catabolic process (GO:0046479)3.42901610
71regulation of myeloid leukocyte mediated immunity (GO:0002886)3.40600983
72microglial cell activation (GO:0001774)3.35561764
73regulation of leukocyte degranulation (GO:0043300)3.35394397
74* response to muramyl dipeptide (GO:0032495)3.33977154
75response to host (GO:0075136)3.32704799
76response to host defenses (GO:0052200)3.32704799
77response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.32704799
78disruption of cells of other organism (GO:0044364)3.31546241
79killing of cells of other organism (GO:0031640)3.31546241
80response to protozoan (GO:0001562)3.27867646
81regulation of B cell differentiation (GO:0045577)3.21963116
82ribosomal small subunit assembly (GO:0000028)3.21048075
83sequestering of metal ion (GO:0051238)3.19993666
84positive regulation of mast cell activation (GO:0033005)3.19715624
85positive regulation of interferon-alpha production (GO:0032727)3.18147290
86neutrophil chemotaxis (GO:0030593)3.18018359
87pentose-phosphate shunt (GO:0006098)3.15342299
88regulation of antigen processing and presentation (GO:0002577)3.12937285
89negative regulation of interleukin-6 production (GO:0032715)3.09910410
90G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.09412603
91adenosine receptor signaling pathway (GO:0001973)3.09346689
92positive thymic T cell selection (GO:0045059)3.08406237
93neutrophil migration (GO:1990266)3.08129638
94* regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.07097828
95glycolipid catabolic process (GO:0019377)3.06578806
96regulation of gamma-delta T cell differentiation (GO:0045586)3.06163756
97positive regulation of cellular amide metabolic process (GO:0034250)3.05752946
98negative regulation of T cell mediated immunity (GO:0002710)3.05528971
99positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.05451749
100cellular response to thyroid hormone stimulus (GO:0097067)3.05186381
101regulation of dendritic cell antigen processing and presentation (GO:0002604)3.03827627
102B cell receptor signaling pathway (GO:0050853)3.02790127
103myeloid dendritic cell activation (GO:0001773)3.02277516
104positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.01245887
105hydrogen peroxide biosynthetic process (GO:0050665)3.00327150
106leukotriene biosynthetic process (GO:0019370)2.99380133
107germinal center formation (GO:0002467)2.98807351
108regulation of interferon-alpha production (GO:0032647)2.98325298
109positive regulation of regulated secretory pathway (GO:1903307)2.98232910
110negative regulation of lymphocyte mediated immunity (GO:0002707)2.98135721
111actin nucleation (GO:0045010)2.96879739
112G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.96525375
113interferon-gamma-mediated signaling pathway (GO:0060333)2.96377382
114negative regulation of leukocyte mediated immunity (GO:0002704)2.94316524
115lipoxygenase pathway (GO:0019372)2.92823752
116mature B cell differentiation (GO:0002335)2.91741733
117viral transcription (GO:0019083)2.90909417
118regulation of superoxide anion generation (GO:0032928)2.89394128
119leukocyte degranulation (GO:0043299)2.89217507
120B cell mediated immunity (GO:0019724)2.88802966
121antigen processing and presentation via MHC class Ib (GO:0002475)2.88641069
122natural killer cell mediated immunity (GO:0002228)2.87542163
123natural killer cell mediated cytotoxicity (GO:0042267)2.87542163
124positive regulation of mast cell degranulation (GO:0043306)2.87212077
125positive regulation of mast cell activation involved in immune response (GO:0033008)2.87212077
126macrophage activation (GO:0042116)2.87123322
127leukocyte cell-cell adhesion (GO:0007159)2.85127422
128cell killing (GO:0001906)2.84723825
129* positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.84284909
130oligosaccharide catabolic process (GO:0009313)2.83322680
131adaptation of signaling pathway (GO:0023058)2.81435663
132cellular response to zinc ion (GO:0071294)2.81215089
133defense response to protozoan (GO:0042832)2.80348486
134regulation of phagocytosis (GO:0050764)2.79640290
135lipopolysaccharide-mediated signaling pathway (GO:0031663)2.79056301
136amino sugar catabolic process (GO:0046348)2.74917296
137myeloid leukocyte activation (GO:0002274)2.74798059
138NIK/NF-kappaB signaling (GO:0038061)2.73988151
139mature B cell differentiation involved in immune response (GO:0002313)2.70588642
140negative regulation of cytokine production involved in immune response (GO:0002719)2.66878466
141negative thymic T cell selection (GO:0045060)2.66168866

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.95365282
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.47703530
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.20829533
4* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.98511042
5MYB_21317192_ChIP-Seq_ERMYB_Mouse3.86375298
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.71585171
7VDR_21846776_ChIP-Seq_THP-1_Human3.66452509
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.63256225
9IRF8_27001747_Chip-Seq_BMDM_Mouse3.42791995
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.08059506
11EGR1_19374776_ChIP-ChIP_THP-1_Human3.03159871
12SCL_19346495_ChIP-Seq_HPC-7_Human3.01771967
13* SPI1_23547873_ChIP-Seq_NB4_Human2.85380372
14VDR_24763502_ChIP-Seq_THP-1_Human2.77579320
15BRD4_27068464_Chip-Seq_AML-cells_Mouse2.77072861
16SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.72464172
17SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.69555524
18SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.68413594
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.67233010
20STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.61256476
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.61186848
22RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.49714818
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.44969247
24MYC_22102868_ChIP-Seq_BL_Human2.39303380
25RUNX1_22412390_ChIP-Seq_EML_Mouse2.31228056
26ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.18164558
27FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.15496345
28* SPI1_23127762_ChIP-Seq_K562_Human2.12687556
29Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.05406747
30MAF_26560356_Chip-Seq_TH1_Human2.04199293
31MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.01722729
32STAT4_19710469_ChIP-ChIP_TH1__Mouse1.98788596
33MYB_26560356_Chip-Seq_TH2_Human1.94864667
34STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.91290422
35UTX_26944678_Chip-Seq_JUKART_Human1.89408684
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.88058316
37SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.86752669
38IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.81549392
39EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.80935772
40TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.80198577
41TCF7_22412390_ChIP-Seq_EML_Mouse1.77203652
42E2F4_17652178_ChIP-ChIP_JURKAT_Human1.76782633
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.74018539
44PU_27001747_Chip-Seq_BMDM_Mouse1.73824562
45MYB_26560356_Chip-Seq_TH1_Human1.72698557
46E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.65086927
47FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.60459399
48FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.60305432
49CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.54840028
50GATA1_22383799_ChIP-Seq_G1ME_Mouse1.52724095
51PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.51631015
52LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.50404207
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.49808795
54GATA2_22383799_ChIP-Seq_G1ME_Mouse1.48127665
55* BCL6_27268052_Chip-Seq_Bcells_Human1.47821220
56ELF1_20517297_ChIP-Seq_JURKAT_Human1.43679032
57VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43363202
58CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.42332050
59NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42161372
60NCOR1_26117541_ChIP-Seq_K562_Human1.40752508
61MAF_26560356_Chip-Seq_TH2_Human1.40120175
62GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.39805205
63* BCOR_27268052_Chip-Seq_Bcells_Human1.38664027
64RUNX_20019798_ChIP-Seq_JUKART_Human1.38218427
65P68_20966046_ChIP-Seq_HELA_Human1.37086224
66ERG_20887958_ChIP-Seq_HPC-7_Mouse1.35363548
67NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.34227132
68HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33677503
69STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.32373479
70PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31992090
71LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.27845992
72FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.26504275
73PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.26183322
74IKZF1_21737484_ChIP-ChIP_HCT116_Human1.26147352
75RACK7_27058665_Chip-Seq_MCF-7_Human1.25198627
76GATA1_19941826_ChIP-Seq_K562_Human1.24741773
77* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.21252244
78CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21188217
79RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.18870706
80SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.18423026
81ELK3_25401928_ChIP-Seq_HUVEC_Human1.18233955
82SA1_27219007_Chip-Seq_ERYTHROID_Human1.17923859
83VDR_24787735_ChIP-Seq_THP-1_Human1.17824656
84CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.14782698
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.13702980
86GATA1_22025678_ChIP-Seq_K562_Human1.13557381
87TFEB_21752829_ChIP-Seq_HELA_Human1.13124106
88GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12555906
89GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10555224
90TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10486102
91* KDM2B_26808549_Chip-Seq_JURKAT_Human1.08833054
92RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08598525
93CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08345798
94TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.08325094
95CIITA_25753668_ChIP-Seq_RAJI_Human1.08131885
96GATA3_27048872_Chip-Seq_THYMUS_Human1.07946812
97SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07916539
98PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.06798798
99KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06359824
100DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.03559788
101E2F1_21310950_ChIP-Seq_MCF-7_Human1.03225314
102CTCF_21964334_ChIP-Seq_BJAB-B_Human1.01918613
103CTCF_26484167_Chip-Seq_Bcells_Mouse1.01101366
104KDM2B_26808549_Chip-Seq_DND41_Human1.00977204
105CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.00795664
106PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00641402
107STAT6_21828071_ChIP-Seq_BEAS2B_Human1.00588996
108* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.00078336
109SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.99622378
110NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.97741035
111* LXR_22292898_ChIP-Seq_THP-1_Human0.96689139
112VDR_23849224_ChIP-Seq_CD4+_Human0.91918961
113PU.1_20513432_ChIP-Seq_Bcells_Mouse0.91171359
114SPI1_20517297_ChIP-Seq_HL60_Human0.90412756
115GATA3_26560356_Chip-Seq_TH2_Human0.85151890
116FOXP3_21729870_ChIP-Seq_TREG_Human0.81360670
117MYC_18555785_ChIP-Seq_MESCs_Mouse0.79193805
118FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78655509
119XRN2_22483619_ChIP-Seq_HELA_Human0.75521112
120CTCF_27219007_Chip-Seq_ERYTHROID_Human0.75376360
121FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.74748933
122EST1_17652178_ChIP-ChIP_JURKAT_Human0.73679803

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.44066908
2MP0003436_decreased_susceptibility_to3.68678669
3MP0005058_abnormal_lysosome_morphology3.64854364
4MP0001835_abnormal_antigen_presentation3.57696056
5* MP0002419_abnormal_innate_immunity3.22286598
6MP0005174_abnormal_tail_pigmentation2.98319029
7MP0003172_abnormal_lysosome_physiology2.94722409
8MP0005464_abnormal_platelet_physiology2.80119072
9MP0009785_altered_susceptibility_to2.71845632
10MP0000569_abnormal_digit_pigmentation2.65738476
11* MP0005025_abnormal_response_to2.64705909
12MP0005000_abnormal_immune_tolerance2.63229552
13MP0003183_abnormal_peptide_metabolism2.59816493
14* MP0002452_abnormal_antigen_presenting2.45886662
15MP0002148_abnormal_hypersensitivity_rea2.41954645
16MP0001800_abnormal_humoral_immune2.39512186
17* MP0001819_abnormal_immune_cell2.32463102
18* MP0002420_abnormal_adaptive_immunity2.32453725
19* MP0002723_abnormal_immune_serum2.27049842
20MP0002396_abnormal_hematopoietic_system2.23876285
21MP0000685_abnormal_immune_system2.21259047
22MP0005671_abnormal_response_to2.19755215
23MP0001790_abnormal_immune_system2.16645816
24MP0005387_immune_system_phenotype2.16645816
25MP0000465_gastrointestinal_hemorrhage2.15155430
26MP0003724_increased_susceptibility_to2.11579523
27MP0006082_CNS_inflammation2.06399902
28MP0002166_altered_tumor_susceptibility2.03963756
29MP0000015_abnormal_ear_pigmentation2.03947401
30MP0003806_abnormal_nucleotide_metabolis1.99649415
31MP0002405_respiratory_system_inflammati1.94967988
32MP0001533_abnormal_skeleton_physiology1.92604295
33MP0003300_gastrointestinal_ulcer1.92118778
34MP0002398_abnormal_bone_marrow1.91607449
35MP0009278_abnormal_bone_marrow1.91344632
36MP0000716_abnormal_immune_system1.87139344
37MP0009333_abnormal_splenocyte_physiolog1.79351486
38MP0001851_eye_inflammation1.75478376
39MP0001845_abnormal_inflammatory_respons1.74014859
40MP0004808_abnormal_hematopoietic_stem1.73918980
41MP0000689_abnormal_spleen_morphology1.71403598
42MP0001873_stomach_inflammation1.70980461
43MP0009840_abnormal_foam_cell1.70642500
44MP0003191_abnormal_cellular_cholesterol1.70434328
45MP0004510_myositis1.68715466
46MP0002722_abnormal_immune_system1.67278452
47MP0001545_abnormal_hematopoietic_system1.65388881
48MP0005397_hematopoietic_system_phenotyp1.65388881
49MP0010307_abnormal_tumor_latency1.64637590
50MP0002429_abnormal_blood_cell1.60384589
51MP0002006_tumorigenesis1.59814559
52MP0000490_abnormal_crypts_of1.58551380
53MP0000343_altered_response_to1.57411255
54MP0003693_abnormal_embryo_hatching1.51041279
55MP0005451_abnormal_body_composition1.50727297
56MP0010155_abnormal_intestine_physiology1.50471204
57MP0001853_heart_inflammation1.44711626
58* MP0008469_abnormal_protein_level1.41365764
59MP0004947_skin_inflammation1.39378888
60MP0000858_altered_metastatic_potential1.28980997
61MP0003075_altered_response_to1.27207986
62MP0003763_abnormal_thymus_physiology1.26836884
63MP0003448_altered_tumor_morphology1.23319487
64MP0002132_abnormal_respiratory_system1.21891218
65MP0005075_abnormal_melanosome_morpholog1.21691596
66MP0002095_abnormal_skin_pigmentation1.17887388
67MP0000703_abnormal_thymus_morphology1.15628202
68MP0001663_abnormal_digestive_system1.05635029
69MP0003690_abnormal_glial_cell1.04811887
70MP0005310_abnormal_salivary_gland1.03544166
71MP0000371_diluted_coat_color0.99112674
72MP0005076_abnormal_cell_differentiation0.98339203
73MP0002998_abnormal_bone_remodeling0.97850798
74MP0004883_abnormal_blood_vessel0.97297419
75MP0002933_joint_inflammation0.96885298
76MP0003705_abnormal_hypodermis_morpholog0.95236274
77MP0003566_abnormal_cell_adhesion0.93883649
78MP0003453_abnormal_keratinocyte_physiol0.91477513
79MP0003656_abnormal_erythrocyte_physiolo0.91246524
80MP0008260_abnormal_autophagy0.88334522
81MP0003866_abnormal_defecation0.87937770
82MP0002928_abnormal_bile_duct0.85697587
83MP0000604_amyloidosis0.84025809
84MP0004185_abnormal_adipocyte_glucose0.83630913
85MP0003828_pulmonary_edema0.82614388
86MP0001986_abnormal_taste_sensitivity0.81513996
87MP0010094_abnormal_chromosome_stability0.80767870
88MP0002019_abnormal_tumor_incidence0.78088456
89MP0005390_skeleton_phenotype0.76505463
90MP0003279_aneurysm0.75684983
91MP0005166_decreased_susceptibility_to0.75393838
92MP0009763_increased_sensitivity_to0.74431829
93MP0009764_decreased_sensitivity_to0.73800297
94MP0008873_increased_physiological_sensi0.71633299
95MP0003111_abnormal_nucleus_morphology0.70850167
96MP0002277_abnormal_respiratory_mucosa0.70230007
97MP0005164_abnormal_response_to0.69692963
98MP0003077_abnormal_cell_cycle0.67690094
99MP0000249_abnormal_blood_vessel0.66718912
100MP0005584_abnormal_enzyme/coenzyme_acti0.65318819
101MP0000313_abnormal_cell_death0.64952885
102MP0004381_abnormal_hair_follicle0.64244700
103MP0005409_darkened_coat_color0.63699657
104MP0005257_abnormal_intraocular_pressure0.63526551
105MP0009765_abnormal_xenobiotic_induced0.62777927
106MP0005319_abnormal_enzyme/_coenzyme0.60519455
107MP0008004_abnormal_stomach_pH0.59444018
108MP0003795_abnormal_bone_structure0.59417542
109MP0003091_abnormal_cell_migration0.57836190
110MP0005083_abnormal_biliary_tract0.56912414
111MP0001958_emphysema0.56421408
112MP0005666_abnormal_adipose_tissue0.55143664
113MP0005381_digestive/alimentary_phenotyp0.54869940
114MP0001915_intracranial_hemorrhage0.54712377
115MP0002971_abnormal_brown_adipose0.54695391
116MP0005647_abnormal_sex_gland0.54502205
117MP0008874_decreased_physiological_sensi0.54107197
118MP0009379_abnormal_foot_pigmentation0.50360885
119MP0008007_abnormal_cellular_replicative0.48590513
120MP0002075_abnormal_coat/hair_pigmentati0.46581678

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)7.70242691
2Eczematoid dermatitis (HP:0000976)7.26048407
3Recurrent bacterial skin infections (HP:0005406)6.94826734
4Recurrent gram-negative bacterial infections (HP:0005420)5.63008204
5Chronic obstructive pulmonary disease (HP:0006510)4.95501916
6Obstructive lung disease (HP:0006536)4.95501916
7Vacuolated lymphocytes (HP:0001922)4.81654622
8Abnormality of macrophages (HP:0004311)4.49963200
9Mediastinal lymphadenopathy (HP:0100721)4.30733583
10Systemic lupus erythematosus (HP:0002725)4.12978905
11Elevated erythrocyte sedimentation rate (HP:0003565)4.01162780
12Myositis (HP:0100614)3.99981496
13Gingivitis (HP:0000230)3.93465635
14* Recurrent skin infections (HP:0001581)3.80162845
15Dysostosis multiplex (HP:0000943)3.67236828
16* Recurrent fungal infections (HP:0002841)3.63363577
17Increased cerebral lipofuscin (HP:0011813)3.59513324
18Thrombocytosis (HP:0001894)3.50537371
19Periodontitis (HP:0000704)3.44212305
20Abnormality of glycolipid metabolism (HP:0010969)3.40973721
21Abnormality of liposaccharide metabolism (HP:0010968)3.40973721
22Abnormality of glycosphingolipid metabolism (HP:0004343)3.40973721
23Cellulitis (HP:0100658)3.30042781
24Increased neuronal autofluorescent lipopigment (HP:0002074)3.23128648
25Glomerulonephritis (HP:0000099)3.22323317
26Thoracic kyphosis (HP:0002942)3.15195792
27Loss of speech (HP:0002371)3.12369704
28Recurrent viral infections (HP:0004429)3.11450880
29* Meningitis (HP:0001287)3.10689553
30Stomatitis (HP:0010280)3.10214569
31Amyloidosis (HP:0011034)3.08307980
32IgM deficiency (HP:0002850)3.06920236
33Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.95084206
34* Chronic mucocutaneous candidiasis (HP:0002728)2.94567876
35* Recurrent cutaneous fungal infections (HP:0011370)2.94567876
36Petechiae (HP:0000967)2.94521450
37Orchitis (HP:0100796)2.90282003
38J-shaped sella turcica (HP:0002680)2.89099739
39Prolonged bleeding time (HP:0003010)2.88067385
40Purpura (HP:0000979)2.84666983
41Increased serum ferritin (HP:0003281)2.83345483
42Osteomyelitis (HP:0002754)2.81377487
43Abnormality of the prostate (HP:0008775)2.79550644
44Agnosia (HP:0010524)2.79417604
45Epistaxis (HP:0000421)2.76407210
46Reticulocytopenia (HP:0001896)2.76385903
47Abnormality of the thoracic spine (HP:0100711)2.72573179
48Chronic otitis media (HP:0000389)2.71130046
49Pustule (HP:0200039)2.71097712
50Mucopolysacchariduria (HP:0008155)2.68378086
51Urinary glycosaminoglycan excretion (HP:0003541)2.68378086
52Leukocytosis (HP:0001974)2.67810110
53Urticaria (HP:0001025)2.66412485
54Gastrointestinal infarctions (HP:0005244)2.65055777
55Disinhibition (HP:0000734)2.63783083
56Abnormality of polysaccharide metabolism (HP:0011012)2.61300313
57Abnormality of glycosaminoglycan metabolism (HP:0004371)2.61300313
58Abnormality of mucopolysaccharide metabolism (HP:0011020)2.61300313
59Vasculitis (HP:0002633)2.59996160
60Upper motor neuron abnormality (HP:0002127)2.56539332
61Abnormal platelet function (HP:0011869)2.55846927
62Impaired platelet aggregation (HP:0003540)2.55846927
63Abnormal delayed hypersensitivity skin test (HP:0002963)2.54162375
64Eosinophilia (HP:0001880)2.53375955
65Inflammation of the large intestine (HP:0002037)2.52983915
66Optic neuritis (HP:0100653)2.52174421
67Retrobulbar optic neuritis (HP:0100654)2.52174421
68Hypertensive crisis (HP:0100735)2.50184716
69Mutism (HP:0002300)2.49479951
70Gastrointestinal inflammation (HP:0004386)2.41299431
71Panhypogammaglobulinemia (HP:0003139)2.41286975
72Neuronal loss in central nervous system (HP:0002529)2.39595779
73Abnormality of iron homeostasis (HP:0011031)2.39246901
74Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.38979760
75Encephalitis (HP:0002383)2.37814373
76Spontaneous hematomas (HP:0007420)2.37235317
77Granulocytopenia (HP:0001913)2.36428231
78Chest pain (HP:0100749)2.33856296
79Prostate neoplasm (HP:0100787)2.32352724
80Menorrhagia (HP:0000132)2.32184132
81Axonal loss (HP:0003447)2.24623269
82Interstitial pulmonary disease (HP:0006530)2.24006616
83Colitis (HP:0002583)2.23965357
84Joint hemorrhage (HP:0005261)2.23253393
85Pulmonary infiltrates (HP:0002113)2.20781677
86Abnormality of the lumbar spine (HP:0100712)2.19819142
87Basal ganglia calcification (HP:0002135)2.19384436
88Arterial thrombosis (HP:0004420)2.19373723
89Recurrent pneumonia (HP:0006532)2.18009734
90Nasal polyposis (HP:0100582)2.14632976
91Gingival bleeding (HP:0000225)2.13331409
92Autoimmune thrombocytopenia (HP:0001973)2.12002890
93Increased IgE level (HP:0003212)2.08736411
94Agammaglobulinemia (HP:0004432)2.06771530
95Abnormality of cells of the erythroid lineage (HP:0012130)2.06623895
96Hepatosplenomegaly (HP:0001433)2.05591805
97* Hemoptysis (HP:0002105)2.01533738
98Reduced antithrombin III activity (HP:0001976)2.01524879
99Myocardial infarction (HP:0001658)2.01234776
100Hematochezia (HP:0002573)2.00611897
101Deformed sella turcica (HP:0002681)1.98392976
102Thickened calvaria (HP:0002684)1.97451395
103Personality changes (HP:0000751)1.95080179
104Abnormality of T cell physiology (HP:0011840)1.95025433
105Thin bony cortex (HP:0002753)1.94676668
106Clubbing of toes (HP:0100760)1.94523243
107Pathologic fracture (HP:0002756)1.94338692
108Episodic fever (HP:0001954)1.93688311
109Abnormal number of erythroid precursors (HP:0012131)1.91630839
110Pallor (HP:0000980)1.90726029
111Sepsis (HP:0100806)1.90393878
112Global brain atrophy (HP:0002283)1.90048851
113Nephritis (HP:0000123)1.89282259
114Albinism (HP:0001022)1.87878638
115Hemorrhage of the eye (HP:0011885)1.87650318
116Abnormality of the nasal mucosa (HP:0000433)1.87033086
117Fatigue (HP:0012378)1.86434494
118Abnormality of eosinophils (HP:0001879)1.86180655
119Progressive neurologic deterioration (HP:0002344)1.86088896
120Abnormality of transition element cation homeostasis (HP:0011030)1.85956384
121* Skin ulcer (HP:0200042)1.85823326
122Premature loss of primary teeth (HP:0006323)1.84651059
123Abnormality of complement system (HP:0005339)1.83667320
124Recurrent lower respiratory tract infections (HP:0002783)1.82557790
125Osteolytic defects of the phalanges of the hand (HP:0009771)1.82240229
126Osteolytic defects of the hand bones (HP:0009699)1.82240229
127Ocular albinism (HP:0001107)1.80350091
128Restrictive lung disease (HP:0002091)1.78379314
129Polyneuropathy (HP:0001271)1.78256303
130Polygenic inheritance (HP:0010982)1.76989626
131Polycythemia (HP:0001901)1.76781285
132Abnormality of the vasculature of the conjunctiva (HP:0008054)1.76224443
133Splenomegaly (HP:0001744)1.75700831
134Spondylolisthesis (HP:0003302)1.75086767

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK44.19822765
2MAP4K13.44659130
3BLK3.21778469
4RIPK43.14389338
5FES2.90362547
6TAOK32.87892084
7IRAK32.59796567
8PRPF4B2.45380988
9TYK22.40820149
10KIT2.35317015
11CLK12.29575209
12BTK2.02313825
13CSF1R2.00220559
14PKN21.98139556
15TEC1.91491574
16TGFBR21.86188377
17TBK11.83030323
18ERN11.70637856
19MAP3K141.61902313
20ZAP701.59237277
21GRK61.59077675
22EEF2K1.57921899
23HCK1.53663494
24SYK1.53239392
25SIK21.43504541
26NME21.42594154
27TXK1.40481899
28MAP2K31.40234014
29CSK1.38357700
30EPHB11.38239353
31IKBKE1.35900495
32MAP3K31.34748129
33STK101.28785847
34TESK21.27604493
35SMG11.23264935
36TAOK11.21996397
37PIM21.20105048
38TRPM71.18511996
39SIK11.15461860
40LYN1.15048330
41TAOK21.14860812
42IRAK21.12819949
43LCK1.12780863
44MAP3K11.11585841
45PAK41.10766418
46IKBKB1.07493033
47EIF2AK31.06465472
48TRIB31.06264885
49JAK11.04414155
50PIM11.04320781
51CAMKK21.02544096
52JAK31.02246606
53NEK20.97367451
54PDPK10.96809551
55JAK20.96175855
56TLK10.95498564
57RPS6KC10.94981193
58RPS6KL10.94981193
59BMPR20.94212903
60RPS6KA60.93270829
61TTN0.92587578
62MAP3K110.91739732
63MAPK120.91235585
64MARK20.89906301
65FGR0.89129498
66CDC42BPA0.86233975
67LRRK20.84830891
68MAP3K130.84487520
69CAMK1D0.83365782
70MAPK40.83189206
71YES10.82929362
72PRKD20.82815950
73MST1R0.76371280
74RPS6KA20.75849357
75KSR20.74962226
76PTK60.73074051
77TNK20.72204301
78MAP3K60.71054403
79ITK0.70107224
80SCYL20.69300389
81CAMK1G0.69237617
82FLT30.66844819
83STK160.66097623
84MAPK70.63876508
85EIF2AK20.62850974
86ICK0.61087829
87IRAK10.60611570
88VRK10.59536166
89SIK30.59283053
90MAP3K80.59242632
91TESK10.59141674
92CDK60.57903829
93CDK40.56886009
94RPS6KA40.56635260
95MOS0.55514631
96STK40.55257797
97MATK0.54740294
98MKNK20.54199259
99ABL20.51938243
100MAPKAPK20.51708869
101MAPKAPK30.48585205
102GRK70.47841695
103KDR0.47809188
104MAP3K100.47237538
105MAPK110.46514931
106MKNK10.43166294
107CDC70.42731189
108HIPK20.42517510
109MAP3K70.42498740
110MAP2K60.41796693
111PRKCD0.41561267
112DAPK10.40306860
113MAP3K120.39917975
114PRKG20.39131208
115ABL10.39125054
116MARK30.37786356
117NEK90.37052923
118ATR0.37017281
119FYN0.36955282
120PRKCQ0.36879276
121BCKDK0.36688761
122CAMKK10.35914230
123MAPK150.35712426
124CHUK0.35217127
125WEE10.35100721
126ALK0.33762584
127PDK10.33196067
128CDK120.32923800

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005113.77361375
2Leishmaniasis_Homo sapiens_hsa051403.30291313
3Glycosaminoglycan degradation_Homo sapiens_hsa005312.76075815
4Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.74018508
5Staphylococcus aureus infection_Homo sapiens_hsa051502.71349695
6Osteoclast differentiation_Homo sapiens_hsa043802.58066930
7Autoimmune thyroid disease_Homo sapiens_hsa053202.14828803
8Lysosome_Homo sapiens_hsa041422.11775086
9Pertussis_Homo sapiens_hsa051332.07770310
10B cell receptor signaling pathway_Homo sapiens_hsa046622.01446651
11Ribosome_Homo sapiens_hsa030101.98830967
12Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.98343545
13Toll-like receptor signaling pathway_Homo sapiens_hsa046201.89074110
14DNA replication_Homo sapiens_hsa030301.87664948
15* Tuberculosis_Homo sapiens_hsa051521.82365613
16NF-kappa B signaling pathway_Homo sapiens_hsa040641.73027525
17Measles_Homo sapiens_hsa051621.70650092
18Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.69324161
19Legionellosis_Homo sapiens_hsa051341.67666599
20Antigen processing and presentation_Homo sapiens_hsa046121.64591084
21Type I diabetes mellitus_Homo sapiens_hsa049401.61356685
22Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.59210792
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.57761465
24Hematopoietic cell lineage_Homo sapiens_hsa046401.54925917
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.54884077
26Phagosome_Homo sapiens_hsa041451.49839724
27Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.49081059
28RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.43738646
29Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.43617033
30Apoptosis_Homo sapiens_hsa042101.40361780
31Toxoplasmosis_Homo sapiens_hsa051451.36965960
32Influenza A_Homo sapiens_hsa051641.36003512
33* NOD-like receptor signaling pathway_Homo sapiens_hsa046211.33842258
34Malaria_Homo sapiens_hsa051441.32045894
35Herpes simplex infection_Homo sapiens_hsa051681.31922231
36Chemokine signaling pathway_Homo sapiens_hsa040621.29955552
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.27143205
38Acute myeloid leukemia_Homo sapiens_hsa052211.25253945
39Shigellosis_Homo sapiens_hsa051311.21361689
40Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.20578625
41Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.19565164
42Salmonella infection_Homo sapiens_hsa051321.17115102
43Homologous recombination_Homo sapiens_hsa034401.15700745
44Asthma_Homo sapiens_hsa053101.14324355
45Hepatitis B_Homo sapiens_hsa051611.12152632
46Primary immunodeficiency_Homo sapiens_hsa053401.09932011
47Transcriptional misregulation in cancer_Homo sapiens_hsa052021.09343610
48Jak-STAT signaling pathway_Homo sapiens_hsa046301.06138646
49Platelet activation_Homo sapiens_hsa046110.99352968
50Chronic myeloid leukemia_Homo sapiens_hsa052200.96541023
51TNF signaling pathway_Homo sapiens_hsa046680.94962842
52Pentose phosphate pathway_Homo sapiens_hsa000300.92921951
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.89535806
54N-Glycan biosynthesis_Homo sapiens_hsa005100.88305344
55Fanconi anemia pathway_Homo sapiens_hsa034600.82868758
56Rheumatoid arthritis_Homo sapiens_hsa053230.81830723
57Base excision repair_Homo sapiens_hsa034100.80611639
58Epstein-Barr virus infection_Homo sapiens_hsa051690.79885732
59Pancreatic cancer_Homo sapiens_hsa052120.77810605
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.76625979
61Hepatitis C_Homo sapiens_hsa051600.74066737
62Mismatch repair_Homo sapiens_hsa034300.73777222
63T cell receptor signaling pathway_Homo sapiens_hsa046600.73482785
64Fructose and mannose metabolism_Homo sapiens_hsa000510.72045136
65Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70283322
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.70124768
67Graft-versus-host disease_Homo sapiens_hsa053320.68391644
68Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.67728338
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.66933966
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65884293
71Caffeine metabolism_Homo sapiens_hsa002320.65387165
72Spliceosome_Homo sapiens_hsa030400.65344823
73VEGF signaling pathway_Homo sapiens_hsa043700.65045841
74One carbon pool by folate_Homo sapiens_hsa006700.64265596
75Bladder cancer_Homo sapiens_hsa052190.62937339
76Systemic lupus erythematosus_Homo sapiens_hsa053220.62838547
77Non-small cell lung cancer_Homo sapiens_hsa052230.58296192
78Viral myocarditis_Homo sapiens_hsa054160.57800050
79Renin-angiotensin system_Homo sapiens_hsa046140.57307384
80Collecting duct acid secretion_Homo sapiens_hsa049660.54984642
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.54878928
82Viral carcinogenesis_Homo sapiens_hsa052030.53851084
83Allograft rejection_Homo sapiens_hsa053300.53428287
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53191016
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.53107903
86HIF-1 signaling pathway_Homo sapiens_hsa040660.52682511
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.52040648
88Sulfur relay system_Homo sapiens_hsa041220.51626586
89ABC transporters_Homo sapiens_hsa020100.51315371
90Prolactin signaling pathway_Homo sapiens_hsa049170.50828003
91mTOR signaling pathway_Homo sapiens_hsa041500.49174458
92Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47224532
93GnRH signaling pathway_Homo sapiens_hsa049120.46507191
94HTLV-I infection_Homo sapiens_hsa051660.46486744
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45643813
96Renal cell carcinoma_Homo sapiens_hsa052110.45465684
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.45239620
98Amoebiasis_Homo sapiens_hsa051460.44871796
99Galactose metabolism_Homo sapiens_hsa000520.44589081
100Sphingolipid metabolism_Homo sapiens_hsa006000.44210378
101Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44030435
102p53 signaling pathway_Homo sapiens_hsa041150.43392113
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.42858217
104Prion diseases_Homo sapiens_hsa050200.42730290
105Notch signaling pathway_Homo sapiens_hsa043300.42418318
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40974821
107Colorectal cancer_Homo sapiens_hsa052100.40187843
108Small cell lung cancer_Homo sapiens_hsa052220.39850743
109African trypanosomiasis_Homo sapiens_hsa051430.39726481
110Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38291008
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.38193917
112Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37486494
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37433670
114Phosphatidylinositol signaling system_Homo sapiens_hsa040700.36749517
115Inositol phosphate metabolism_Homo sapiens_hsa005620.34108723
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33598124
117Endocytosis_Homo sapiens_hsa041440.32851344
118Cell cycle_Homo sapiens_hsa041100.32663455
119Arachidonic acid metabolism_Homo sapiens_hsa005900.31791346
120Insulin resistance_Homo sapiens_hsa049310.30414240
121Complement and coagulation cascades_Homo sapiens_hsa046100.29286168
122Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.27086799
123Choline metabolism in cancer_Homo sapiens_hsa052310.25330611

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