HLA-C

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: HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of leukocyte mediated cytotoxicity (GO:0001911)7.31273655
2negative regulation of cell killing (GO:0031342)7.31273655
3* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.90732249
4* antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.58346911
5* antigen processing and presentation of endogenous antigen (GO:0019883)6.30166550
6* antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.82938917
7positive regulation of gamma-delta T cell activation (GO:0046645)5.67811409
8positive regulation by symbiont of host defense response (GO:0052509)5.31461894
9modulation by symbiont of host defense response (GO:0052031)5.31461894
10modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.31461894
11modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.31461894
12positive regulation by organism of defense response of other organism involved in symbiotic interact5.31461894
13modulation by symbiont of host immune response (GO:0052553)5.31461894
14detection of other organism (GO:0098543)5.30024079
15detection of bacterium (GO:0016045)5.26693735
16regulation of B cell receptor signaling pathway (GO:0050855)4.83419102
17neutrophil activation involved in immune response (GO:0002283)4.80691752
18leukocyte aggregation (GO:0070486)4.59325288
19macrophage activation involved in immune response (GO:0002281)4.54769996
20negative regulation of lymphocyte mediated immunity (GO:0002707)4.53846103
21response to interleukin-15 (GO:0070672)4.40474897
22positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.36951126
23detection of external biotic stimulus (GO:0098581)4.30391701
24regulation of gamma-delta T cell activation (GO:0046643)4.17784132
25response to peptidoglycan (GO:0032494)4.10926224
26cellular response to interleukin-15 (GO:0071350)4.10318193
27negative regulation of interleukin-12 production (GO:0032695)4.07373346
28immunoglobulin mediated immune response (GO:0016064)4.05783163
29negative regulation of leukocyte mediated immunity (GO:0002704)4.05325806
30* type I interferon signaling pathway (GO:0060337)3.95276376
31* cellular response to type I interferon (GO:0071357)3.95276376
32regulation of T cell tolerance induction (GO:0002664)3.94141334
33* response to type I interferon (GO:0034340)3.92603471
34regulation of interferon-beta biosynthetic process (GO:0045357)3.91053316
35respiratory burst (GO:0045730)3.89790413
36neutrophil activation (GO:0042119)3.87997777
37cellular extravasation (GO:0045123)3.83254140
38antigen processing and presentation via MHC class Ib (GO:0002475)3.82946112
39regulation of gamma-delta T cell differentiation (GO:0045586)3.76622067
40detection of biotic stimulus (GO:0009595)3.73533556
41leukocyte migration involved in inflammatory response (GO:0002523)3.67282204
42regulation of tolerance induction (GO:0002643)3.64595468
43negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.62588238
44detection of molecule of bacterial origin (GO:0032490)3.60830403
45negative regulation of T cell mediated immunity (GO:0002710)3.60342737
46response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.59089851
47response to host immune response (GO:0052572)3.59089851
48negative thymic T cell selection (GO:0045060)3.57646626
49granulocyte activation (GO:0036230)3.55702022
50regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.52712826
51regulation of natural killer cell mediated immunity (GO:0002715)3.52712826
52negative T cell selection (GO:0043383)3.48862447
53negative regulation of phagocytosis (GO:0050765)3.43994494
54regulation of mast cell degranulation (GO:0043304)3.42875324
55positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.42411596
56B cell receptor signaling pathway (GO:0050853)3.41841475
57positive thymic T cell selection (GO:0045059)3.40951324
58myeloid cell activation involved in immune response (GO:0002275)3.39044425
59* interferon-gamma-mediated signaling pathway (GO:0060333)3.37979693
60response to host (GO:0075136)3.35604773
61response to host defenses (GO:0052200)3.35604773
62response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.35604773
63microglial cell activation (GO:0001774)3.26795053
64negative regulation of innate immune response (GO:0045824)3.26563867
65germinal center formation (GO:0002467)3.25609950
66regulation of dendritic cell antigen processing and presentation (GO:0002604)3.24054329
67regulation of B cell differentiation (GO:0045577)3.23757287
68* regulation of T cell mediated cytotoxicity (GO:0001914)3.22826200
69negative regulation of erythrocyte differentiation (GO:0045647)3.21038026
70regulation of myeloid leukocyte mediated immunity (GO:0002886)3.20149528
71B cell mediated immunity (GO:0019724)3.19036921
72defense response to protozoan (GO:0042832)3.17948861
73* positive regulation of T cell mediated cytotoxicity (GO:0001916)3.17934803
74tolerance induction (GO:0002507)3.16800288
75regulation of alpha-beta T cell proliferation (GO:0046640)3.15738850
76macrophage activation (GO:0042116)3.15393044
77T cell migration (GO:0072678)3.12922615
78regulation of mast cell activation involved in immune response (GO:0033006)3.12167449
79response to muramyl dipeptide (GO:0032495)3.10758979
80positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.10292605
81regulation of leukocyte degranulation (GO:0043300)3.09476020
82positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.08480850
83regulation of regulatory T cell differentiation (GO:0045589)3.08144876
84neutrophil mediated immunity (GO:0002446)3.08080146
85production of molecular mediator involved in inflammatory response (GO:0002532)3.07570351
86positive regulation of B cell differentiation (GO:0045579)3.04617435
87T cell selection (GO:0045058)3.02854302
88dendritic cell chemotaxis (GO:0002407)3.02222656
89thymic T cell selection (GO:0045061)2.99616536
90regulation of T-helper 2 cell differentiation (GO:0045628)2.99128147
91leukocyte degranulation (GO:0043299)2.98860204
92negative regulation of type 2 immune response (GO:0002829)2.98158717
93negative regulation of cytokine production involved in immune response (GO:0002719)2.97087566
94positive regulation of mast cell activation (GO:0033005)2.95783590
95positive regulation of tolerance induction (GO:0002645)2.95433938
96negative regulation of T-helper cell differentiation (GO:0045623)2.95362160
97negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.95362160
98negative regulation of alpha-beta T cell activation (GO:0046636)2.94942699
99regulation of antigen processing and presentation (GO:0002577)2.93637773
100positive T cell selection (GO:0043368)2.89380438

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* IRF8_22096565_ChIP-ChIP_GC-B_Human5.27601264
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.59405055
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.77628404
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.68351715
5MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.39981528
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.25180445
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.09926148
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.92657165
9VDR_21846776_ChIP-Seq_THP-1_Human2.87915019
10IRF8_27001747_Chip-Seq_BMDM_Mouse2.81704124
11IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.69893927
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.61513082
13VDR_24763502_ChIP-Seq_THP-1_Human2.56633564
14RUNX_20019798_ChIP-Seq_JUKART_Human2.54372566
15MAF_26560356_Chip-Seq_TH1_Human2.51513480
16SPI1_23547873_ChIP-Seq_NB4_Human2.46960473
17RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.46544299
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.43545341
19MYC_22102868_ChIP-Seq_BL_Human2.43100582
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.39466087
21STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.39245000
22SPI1_23127762_ChIP-Seq_K562_Human2.34163703
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.30955139
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.29734288
25MYB_26560356_Chip-Seq_TH2_Human2.26950213
26STAT4_19710469_ChIP-ChIP_TH1__Mouse2.24975916
27UTX_26944678_Chip-Seq_JUKART_Human2.24593954
28RUNX1_22412390_ChIP-Seq_EML_Mouse2.22169742
29KDM2B_26808549_Chip-Seq_SUP-B15_Human2.14259550
30FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.08723615
31TCF7_22412390_ChIP-Seq_EML_Mouse2.06325433
32VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.05334665
33BRD4_27068464_Chip-Seq_AML-cells_Mouse2.04443993
34MYB_26560356_Chip-Seq_TH1_Human2.01633276
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.93369497
36RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.91936222
37* MAF_26560356_Chip-Seq_TH2_Human1.89782734
38SCL_19346495_ChIP-Seq_HPC-7_Human1.86364396
39KDM2B_26808549_Chip-Seq_DND41_Human1.85689797
40EGR1_19374776_ChIP-ChIP_THP-1_Human1.85415788
41* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.81776113
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.80149068
43MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.80140390
44ELK3_25401928_ChIP-Seq_HUVEC_Human1.69170372
45LXR_22292898_ChIP-Seq_THP-1_Human1.68093088
46KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.61930535
47* GATA3_27048872_Chip-Seq_THYMUS_Human1.57002669
48CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54368528
49LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.53129106
50Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.49161241
51FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.45845003
52TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.44696728
53GATA1_19941827_ChIP-Seq_MEL_Mouse1.43658648
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.42979247
55VDR_24787735_ChIP-Seq_THP-1_Human1.42159853
56CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.40642591
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.40479158
58LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.33820094
59GATA2_22383799_ChIP-Seq_G1ME_Mouse1.33786825
60TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33407366
61PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.31446837
62PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.30508486
63GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.28255794
64KDM2B_26808549_Chip-Seq_JURKAT_Human1.26547611
65GATA1_22383799_ChIP-Seq_G1ME_Mouse1.26526112
66BCL6_27268052_Chip-Seq_Bcells_Human1.22940730
67STAT6_21828071_ChIP-Seq_BEAS2B_Human1.21773783
68CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.21563493
69GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.19106156
70SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.18743792
71PU.1_20513432_ChIP-Seq_Bcells_Mouse1.18634300
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.17840044
73ELF1_17652178_ChIP-ChIP_JURKAT_Human1.17163596
74BCOR_27268052_Chip-Seq_Bcells_Human1.16952919
75GATA3_26560356_Chip-Seq_TH2_Human1.13944856
76CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13600423
77PU_27001747_Chip-Seq_BMDM_Mouse1.13343306
78PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.12764753
79IKZF1_21737484_ChIP-ChIP_HCT116_Human1.12679956
80GATA1_19941826_ChIP-Seq_K562_Human1.09583320
81ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.08148685
82SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.07605988
83RACK7_27058665_Chip-Seq_MCF-7_Human1.07584218
84CTCF_27219007_Chip-Seq_ERYTHROID_Human1.06883996
85VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.06288989
86SA1_27219007_Chip-Seq_ERYTHROID_Human1.01757164
87SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.01748375
88TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99093209
89GATA2_21666600_ChIP-Seq_HMVEC_Human0.98369583
90STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.96066240
91NCOR1_26117541_ChIP-Seq_K562_Human0.96008751
92SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94125614
93GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93842254
94ELF1_20517297_ChIP-Seq_JURKAT_Human0.91700590
95P68_20966046_ChIP-Seq_HELA_Human0.87380262
96RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87356919
97STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.86027446
98GATA1_22025678_ChIP-Seq_K562_Human0.86003145
99PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83208576
100NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.81925436

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.72160558
2MP0003436_decreased_susceptibility_to4.40276452
3MP0001835_abnormal_antigen_presentation3.80324017
4MP0003303_peritoneal_inflammation3.67479364
5MP0005671_abnormal_response_to3.22796421
6MP0002419_abnormal_innate_immunity3.04895160
7MP0005387_immune_system_phenotype3.02327522
8MP0001790_abnormal_immune_system3.02327522
9MP0001800_abnormal_humoral_immune2.99618672
10MP0000685_abnormal_immune_system2.97697504
11MP0005025_abnormal_response_to2.96145712
12MP0005000_abnormal_immune_tolerance2.91729401
13MP0009785_altered_susceptibility_to2.88839326
14MP0006082_CNS_inflammation2.76581584
15MP0002723_abnormal_immune_serum2.64035758
16MP0003300_gastrointestinal_ulcer2.61580142
17MP0003763_abnormal_thymus_physiology2.58624808
18MP0002420_abnormal_adaptive_immunity2.57786827
19MP0001819_abnormal_immune_cell2.55275050
20MP0002452_abnormal_antigen_presenting2.53891375
21MP0003191_abnormal_cellular_cholesterol2.30434857
22MP0002148_abnormal_hypersensitivity_rea2.29835140
23MP0001533_abnormal_skeleton_physiology2.22865847
24MP0010155_abnormal_intestine_physiology2.09943373
25MP0002405_respiratory_system_inflammati2.07919965
26MP0002398_abnormal_bone_marrow1.95147262
27MP0000716_abnormal_immune_system1.93023019
28MP0005464_abnormal_platelet_physiology1.90758371
29MP0009333_abnormal_splenocyte_physiolog1.90181771
30MP0004947_skin_inflammation1.82150437
31MP0001845_abnormal_inflammatory_respons1.81093208
32MP0003866_abnormal_defecation1.80286173
33MP0008260_abnormal_autophagy1.78612955
34MP0002132_abnormal_respiratory_system1.76845385
35MP0000465_gastrointestinal_hemorrhage1.65450797
36MP0002722_abnormal_immune_system1.59117285
37MP0000689_abnormal_spleen_morphology1.58905091
38MP0002396_abnormal_hematopoietic_system1.58576851
39MP0003172_abnormal_lysosome_physiology1.57213790
40MP0005451_abnormal_body_composition1.53847954
41MP0003183_abnormal_peptide_metabolism1.53389280
42MP0002429_abnormal_blood_cell1.52130062
43MP0008469_abnormal_protein_level1.50575360
44MP0009278_abnormal_bone_marrow1.50141817
45MP0000703_abnormal_thymus_morphology1.49234371
46MP0003828_pulmonary_edema1.45619610
47MP0000858_altered_metastatic_potential1.44858745
48MP0002277_abnormal_respiratory_mucosa1.40841508
49MP0004510_myositis1.37539736
50MP0005310_abnormal_salivary_gland1.36202987
51MP0009764_decreased_sensitivity_to1.35793139
52MP0004381_abnormal_hair_follicle1.31912366
53MP0001851_eye_inflammation1.31462485
54MP0002998_abnormal_bone_remodeling1.25967565
55MP0001873_stomach_inflammation1.25525269
56MP0005058_abnormal_lysosome_morphology1.24532581
57MP0004883_abnormal_blood_vessel1.20448684
58MP0003075_altered_response_to1.20258968
59MP0002166_altered_tumor_susceptibility1.11699775
60MP0005166_decreased_susceptibility_to1.09824985
61MP0003690_abnormal_glial_cell1.04173749
62MP0001545_abnormal_hematopoietic_system1.02494600
63MP0005397_hematopoietic_system_phenotyp1.02494600
64MP0000490_abnormal_crypts_of1.01310644
65MP0005164_abnormal_response_to1.00876193
66MP0002933_joint_inflammation0.96815859
67MP0003448_altered_tumor_morphology0.96225805
68MP0005390_skeleton_phenotype0.95625533
69MP0001663_abnormal_digestive_system0.93299709
70MP0000343_altered_response_to0.89414633
71MP0009763_increased_sensitivity_to0.87009921
72MP0002138_abnormal_hepatobiliary_system0.85657159
73MP0001853_heart_inflammation0.85047199
74MP0009840_abnormal_foam_cell0.84560224
75MP0000604_amyloidosis0.82875648
76MP0004858_abnormal_nervous_system0.78497745
77MP0003806_abnormal_nucleotide_metabolis0.77473585
78MP0008004_abnormal_stomach_pH0.76649780
79MP0003045_fibrosis0.74627678
80MP0003795_abnormal_bone_structure0.69399224
81MP0005075_abnormal_melanosome_morpholog0.68431804
82MP0004808_abnormal_hematopoietic_stem0.67276123
83MP0002006_tumorigenesis0.66503271
84MP0008874_decreased_physiological_sensi0.66373714
85MP0000249_abnormal_blood_vessel0.65652153
86MP0003091_abnormal_cell_migration0.65649126
87MP0009765_abnormal_xenobiotic_induced0.62286410
88MP0001958_emphysema0.56573221
89MP0001986_abnormal_taste_sensitivity0.55884516
90MP0005381_digestive/alimentary_phenotyp0.54329606
91MP0005319_abnormal_enzyme/_coenzyme0.52379923
92MP0003453_abnormal_keratinocyte_physiol0.51473240
93MP0003705_abnormal_hypodermis_morpholog0.49405560
94MP0000609_abnormal_liver_physiology0.48317385
95MP0002133_abnormal_respiratory_system0.47234978
96MP0005388_respiratory_system_phenotype0.47234978
97MP0002693_abnormal_pancreas_physiology0.47147232
98MP0004130_abnormal_muscle_cell0.46985436
99MP0002019_abnormal_tumor_incidence0.46982523
100MP0003566_abnormal_cell_adhesion0.46308847

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)6.99105626
2Myositis (HP:0100614)5.93072930
3Recurrent abscess formation (HP:0002722)5.73950182
4Orchitis (HP:0100796)5.56482911
5Recurrent bacterial skin infections (HP:0005406)5.56348973
6Abnormality of macrophages (HP:0004311)5.38651787
7Retrobulbar optic neuritis (HP:0100654)5.13226232
8Optic neuritis (HP:0100653)5.13226232
9Recurrent gram-negative bacterial infections (HP:0005420)4.80198331
10Elevated erythrocyte sedimentation rate (HP:0003565)4.79676183
11Stomatitis (HP:0010280)4.56109837
12Gastrointestinal infarctions (HP:0005244)4.42813194
13Mediastinal lymphadenopathy (HP:0100721)4.18402877
14Meningitis (HP:0001287)4.15613545
15Recurrent fungal infections (HP:0002841)4.06820407
16Obstructive lung disease (HP:0006536)4.05996219
17Chronic obstructive pulmonary disease (HP:0006510)4.05996219
18Abnormal delayed hypersensitivity skin test (HP:0002963)4.02942439
19Increased IgE level (HP:0003212)3.87468970
20Encephalitis (HP:0002383)3.76921109
21Recurrent skin infections (HP:0001581)3.71313991
22Keratoconjunctivitis sicca (HP:0001097)3.70915811
23Vasculitis (HP:0002633)3.64270028
24Spontaneous hematomas (HP:0007420)3.61750199
25Gingivitis (HP:0000230)3.48122583
26Keratoconjunctivitis (HP:0001096)3.41536178
27Cellulitis (HP:0100658)3.37471782
28Urticaria (HP:0001025)3.36986305
29Recurrent cutaneous fungal infections (HP:0011370)3.34894142
30Chronic mucocutaneous candidiasis (HP:0002728)3.34894142
31Chest pain (HP:0100749)3.26587366
32T lymphocytopenia (HP:0005403)3.14306286
33Pulmonary infiltrates (HP:0002113)3.13237182
34Prolonged bleeding time (HP:0003010)3.06633118
35Abnormality of T cell number (HP:0011839)3.02185543
36Hemoptysis (HP:0002105)3.00580033
37Pustule (HP:0200039)2.93915835
38Inflammation of the large intestine (HP:0002037)2.92108028
39Gastrointestinal inflammation (HP:0004386)2.87075924
40Recurrent viral infections (HP:0004429)2.86490905
41Episodic fever (HP:0001954)2.81545288
42Panhypogammaglobulinemia (HP:0003139)2.79809582
43Increased IgM level (HP:0003496)2.78070829
44Abnormality of T cells (HP:0002843)2.72697252
45Leukocytosis (HP:0001974)2.71513387
46Pulmonary embolism (HP:0002204)2.69372858
47Arterial thrombosis (HP:0004420)2.68031734
48Lymphopenia (HP:0001888)2.63919059
49Peritonitis (HP:0002586)2.63918490
50Hypochromic anemia (HP:0001931)2.63173287
51Anorexia (HP:0002039)2.62095943
52Gingival bleeding (HP:0000225)2.60535400
53Petechiae (HP:0000967)2.59386783
54Epistaxis (HP:0000421)2.58056671
55Granulocytopenia (HP:0001913)2.54348752
56Amyloidosis (HP:0011034)2.52287036
57Osteomyelitis (HP:0002754)2.52278114
58Abnormality of cells of the lymphoid lineage (HP:0012140)2.49082673
59Colitis (HP:0002583)2.47534120
60Hypergammaglobulinemia (HP:0010702)2.46514614
61Sepsis (HP:0100806)2.42104434
62Abnormality of the pleura (HP:0002103)2.40726964
63Recurrent bronchitis (HP:0002837)2.38762792
64Nasal polyposis (HP:0100582)2.37445253
65Chronic otitis media (HP:0000389)2.37231061
66Abnormality of T cell physiology (HP:0011840)2.35914787
67Agammaglobulinemia (HP:0004432)2.32906081
68Purpura (HP:0000979)2.32332230
69Gastrointestinal stroma tumor (HP:0100723)2.31527771
70Gangrene (HP:0100758)2.30848739
71Hypochromic microcytic anemia (HP:0004840)2.24481947
72Abnormality of the peritoneum (HP:0002585)2.21267769
73IgM deficiency (HP:0002850)2.20942421
74Loss of speech (HP:0002371)2.16999860
75Glomerulopathy (HP:0100820)2.16479556
76Skin ulcer (HP:0200042)2.15123024
77Hepatosplenomegaly (HP:0001433)2.13950258
78Abnormality of the nasal mucosa (HP:0000433)2.12912316
79Premature loss of primary teeth (HP:0006323)2.12406966
80Eosinophilia (HP:0001880)2.07944710
81Acute hepatic failure (HP:0006554)2.07609815
82Acne (HP:0001061)2.07425121
83Increased serum ferritin (HP:0003281)2.05766015
84Recurrent sinusitis (HP:0011108)2.02190299
85Abnormality of the endocardium (HP:0004306)2.00452451
86Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.00082549
87Recurrent pneumonia (HP:0006532)1.99137361
88Restrictive lung disease (HP:0002091)1.98761497
89Malnutrition (HP:0004395)1.98624678
90Increased cerebral lipofuscin (HP:0011813)1.98112411
91Microcytic anemia (HP:0001935)1.97419167
92Abnormality of glycosphingolipid metabolism (HP:0004343)1.93991568
93Abnormality of glycolipid metabolism (HP:0010969)1.93991568
94Abnormality of liposaccharide metabolism (HP:0010968)1.93991568
95Segmental peripheral demyelination/remyelination (HP:0003481)1.93595019
96Abnormality of the pericardium (HP:0001697)1.93456584
97Systemic lupus erythematosus (HP:0002725)1.91994021
98Papilloma (HP:0012740)1.90541117
99Verrucae (HP:0200043)1.90541117
100Skin rash (HP:0000988)1.90373992

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK44.46341081
2MAP4K14.12582198
3ERN13.48492696
4TYK22.98038858
5IRAK42.88698026
6BLK2.74847496
7CSK2.64951378
8MAP2K32.59067850
9PRPF4B2.57089663
10FES2.42706314
11EPHB12.33222204
12TNK22.31364509
13ZAP702.18639356
14GRK62.17163461
15JAK31.87944985
16TXK1.84987943
17MAP3K31.82680998
18BTK1.82432702
19TAOK11.78566723
20HCK1.70223930
21MAP3K111.67713968
22TBK11.59901240
23MAP3K141.58531420
24IKBKE1.57851234
25SYK1.56379479
26SIK31.54758022
27MAP3K131.52821191
28FGR1.50039784
29TRIB31.49666701
30JAK11.48641061
31JAK21.33875413
32LYN1.32340100
33SMG11.26343416
34LCK1.25552896
35MAP3K11.23922381
36CSF1R1.16135742
37KSR21.15392682
38TESK21.14811228
39ITK1.12877503
40KIT1.12222323
41FGFR41.11301055
42PTK61.11262456
43PRKD21.05337840
44TAOK31.02355464
45MARK31.01879319
46YES11.01178086
47SIK21.00331346
48MARK20.98082496
49STK100.96611727
50TAOK20.96171270
51PDK10.89087320
52SIK10.87765685
53IKBKB0.84551637
54CDC42BPA0.82009275
55MATK0.81009763
56PDPK10.78293997
57IRAK10.75704092
58LRRK20.75227105
59TGFBR20.72976748
60TEC0.70801988
61FGFR30.69817057
62CDK190.69507517
63FYN0.69243405
64MAP3K70.67354096
65EPHA30.66208197
66HIPK20.65749085
67MAPK120.65356162
68BMPR20.61913285
69PRKCQ0.61603048
70DYRK1B0.59707642
71IRAK20.58891843
72MAPK70.57652458
73MAP3K60.55063807
74NLK0.52119168
75RIPK10.50172648
76STK380.49066526
77PTK2B0.46947092
78CAMKK10.46647221
79STK110.45578581
80PRKG20.45446279
81RET0.45252204
82MAP3K20.44362244
83RPS6KC10.42684217
84RPS6KL10.42684217
85PIM10.42517502
86MAP3K50.40318024
87MAP2K60.39948592
88MAPKAPK20.39436052
89GRK70.36790084
90PRKCH0.36331771
91PKN20.35634231
92RPS6KA60.33413301
93SGK30.33123626
94KDR0.32645810
95MAP3K100.32590965
96MAPK110.32228007
97MAP3K80.31765810
98RAF10.28965657
99IRAK30.28677369
100PRKCD0.28658817

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051402.92243692
2Osteoclast differentiation_Homo sapiens_hsa043802.89868855
3Staphylococcus aureus infection_Homo sapiens_hsa051502.87746420
4* Graft-versus-host disease_Homo sapiens_hsa053322.73524178
5* Allograft rejection_Homo sapiens_hsa053302.73198194
6Primary immunodeficiency_Homo sapiens_hsa053402.56324133
7* Autoimmune thyroid disease_Homo sapiens_hsa053202.55756807
8* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.37629572
9B cell receptor signaling pathway_Homo sapiens_hsa046622.26230769
10Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.03755237
11Tuberculosis_Homo sapiens_hsa051522.03226889
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.98831615
13* Type I diabetes mellitus_Homo sapiens_hsa049401.98549196
14* Antigen processing and presentation_Homo sapiens_hsa046121.95597219
15Toll-like receptor signaling pathway_Homo sapiens_hsa046201.92822656
16Measles_Homo sapiens_hsa051621.84336215
17* Viral myocarditis_Homo sapiens_hsa054161.80777477
18T cell receptor signaling pathway_Homo sapiens_hsa046601.73530055
19Acute myeloid leukemia_Homo sapiens_hsa052211.73110384
20NF-kappa B signaling pathway_Homo sapiens_hsa040641.67648159
21Hematopoietic cell lineage_Homo sapiens_hsa046401.67264836
22Chemokine signaling pathway_Homo sapiens_hsa040621.64892945
23Malaria_Homo sapiens_hsa051441.62248877
24Intestinal immune network for IgA production_Homo sapiens_hsa046721.60231588
25NOD-like receptor signaling pathway_Homo sapiens_hsa046211.59036980
26Toxoplasmosis_Homo sapiens_hsa051451.58301312
27Influenza A_Homo sapiens_hsa051641.55302389
28Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.55239303
29* Herpes simplex infection_Homo sapiens_hsa051681.45696057
30Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.45668812
31Asthma_Homo sapiens_hsa053101.43984248
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.41991017
33Other glycan degradation_Homo sapiens_hsa005111.41300316
34* Phagosome_Homo sapiens_hsa041451.34992579
35Jak-STAT signaling pathway_Homo sapiens_hsa046301.34355083
36Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.33558203
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.30266514
38TNF signaling pathway_Homo sapiens_hsa046681.27944064
39Legionellosis_Homo sapiens_hsa051341.22180357
40Hepatitis C_Homo sapiens_hsa051601.17543617
41Non-small cell lung cancer_Homo sapiens_hsa052231.12206996
42Hepatitis B_Homo sapiens_hsa051611.10466353
43African trypanosomiasis_Homo sapiens_hsa051431.09067674
44Pertussis_Homo sapiens_hsa051331.06292912
45Platelet activation_Homo sapiens_hsa046111.02289013
46Rheumatoid arthritis_Homo sapiens_hsa053231.01591607
47Shigellosis_Homo sapiens_hsa051311.00614747
48Pancreatic cancer_Homo sapiens_hsa052120.99158379
49Apoptosis_Homo sapiens_hsa042100.96972763
50VEGF signaling pathway_Homo sapiens_hsa043700.94617045
51Salmonella infection_Homo sapiens_hsa051320.93990531
52Chronic myeloid leukemia_Homo sapiens_hsa052200.93148340
53Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.90821516
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.89622795
55* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88343030
56Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.87114348
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.87101215
58* Endocytosis_Homo sapiens_hsa041440.80500274
59Lysosome_Homo sapiens_hsa041420.77459746
60Prolactin signaling pathway_Homo sapiens_hsa049170.77381947
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73876676
62Renal cell carcinoma_Homo sapiens_hsa052110.72529227
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.72365064
64* Epstein-Barr virus infection_Homo sapiens_hsa051690.70540490
65Notch signaling pathway_Homo sapiens_hsa043300.70215141
66Sphingolipid signaling pathway_Homo sapiens_hsa040710.68944753
67Carbohydrate digestion and absorption_Homo sapiens_hsa049730.67147680
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.66879773
69Adipocytokine signaling pathway_Homo sapiens_hsa049200.66452489
70* Viral carcinogenesis_Homo sapiens_hsa052030.66176029
71* HTLV-I infection_Homo sapiens_hsa051660.59554154
72Endometrial cancer_Homo sapiens_hsa052130.58152181
73Choline metabolism in cancer_Homo sapiens_hsa052310.57453264
74Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56110778
75FoxO signaling pathway_Homo sapiens_hsa040680.56026583
76Amoebiasis_Homo sapiens_hsa051460.55957355
77Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55594993
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54015122
79Glycosaminoglycan degradation_Homo sapiens_hsa005310.53385291
80GnRH signaling pathway_Homo sapiens_hsa049120.50755570
81Insulin resistance_Homo sapiens_hsa049310.49717824
82Colorectal cancer_Homo sapiens_hsa052100.49517995
83Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.49217307
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44477551
85Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.44429016
86HIF-1 signaling pathway_Homo sapiens_hsa040660.43851622
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.43139299
88Inositol phosphate metabolism_Homo sapiens_hsa005620.42211511
89Rap1 signaling pathway_Homo sapiens_hsa040150.41843446
90mTOR signaling pathway_Homo sapiens_hsa041500.40761068
91MAPK signaling pathway_Homo sapiens_hsa040100.39258184
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37673971
93Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37438064
94Regulation of autophagy_Homo sapiens_hsa041400.33810987
95Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33801059
96Dorso-ventral axis formation_Homo sapiens_hsa043200.32259362
97Type II diabetes mellitus_Homo sapiens_hsa049300.31327794
98ErbB signaling pathway_Homo sapiens_hsa040120.30686596
99Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30127815
100Prostate cancer_Homo sapiens_hsa052150.29077863

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