PDCD1

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 cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative T cell selection (GO:0043383)8.61736956
2negative thymic T cell selection (GO:0045060)8.56634618
3positive regulation of gamma-delta T cell activation (GO:0046645)7.87120770
4regulation of isotype switching to IgG isotypes (GO:0048302)7.61280539
5tolerance induction (GO:0002507)7.36353014
6positive thymic T cell selection (GO:0045059)7.27933084
7thymic T cell selection (GO:0045061)6.94431076
8regulation of T cell tolerance induction (GO:0002664)6.73484168
9positive regulation of interleukin-2 biosynthetic process (GO:0045086)6.59448371
10regulation of gamma-delta T cell differentiation (GO:0045586)6.47404732
11positive T cell selection (GO:0043368)6.42204641
12T cell selection (GO:0045058)6.29078831
13cellular response to interleukin-15 (GO:0071350)6.21060458
14response to interleukin-15 (GO:0070672)6.14468264
15regulation of gamma-delta T cell activation (GO:0046643)6.04746128
16positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.87284209
17leukocyte aggregation (GO:0070486)5.83605614
18antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.73691164
19antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.73691164
20* T cell costimulation (GO:0031295)5.57028939
21* lymphocyte costimulation (GO:0031294)5.56633991
22positive regulation of tolerance induction (GO:0002645)5.46168938
23T cell receptor signaling pathway (GO:0050852)5.43251343
24negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.39586385
25negative regulation of cell killing (GO:0031342)5.39586385
26regulation of interleukin-2 biosynthetic process (GO:0045076)5.34482290
27positive regulation of natural killer cell mediated immunity (GO:0002717)5.05795425
28positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)5.05795425
29antigen processing and presentation of endogenous antigen (GO:0019883)5.02791537
30T cell migration (GO:0072678)4.93417184
31interferon-gamma production (GO:0032609)4.92180668
32positive regulation of alpha-beta T cell proliferation (GO:0046641)4.85832640
33regulation of tolerance induction (GO:0002643)4.84509980
34regulation of alpha-beta T cell proliferation (GO:0046640)4.82318204
35regulation of natural killer cell mediated cytotoxicity (GO:0042269)4.73128998
36regulation of natural killer cell mediated immunity (GO:0002715)4.73128998
37regulation of B cell receptor signaling pathway (GO:0050855)4.70927408
38regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)4.65326866
39activated T cell proliferation (GO:0050798)4.60128366
40positive regulation of isotype switching (GO:0045830)4.57455870
41antigen receptor-mediated signaling pathway (GO:0050851)4.53405276
42regulation of isotype switching (GO:0045191)4.47289119
43positive regulation of immunoglobulin mediated immune response (GO:0002891)4.34643875
44positive regulation of B cell mediated immunity (GO:0002714)4.34643875
45regulation of immunoglobulin mediated immune response (GO:0002889)4.21935723
46regulation of regulatory T cell differentiation (GO:0045589)4.20289959
47regulation of T cell receptor signaling pathway (GO:0050856)4.20064053
48cellular response to type I interferon (GO:0071357)4.18431183
49type I interferon signaling pathway (GO:0060337)4.18431183
50immunoglobulin mediated immune response (GO:0016064)4.15060853
51response to type I interferon (GO:0034340)4.14994519
52regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.12951558
53positive regulation of leukocyte mediated cytotoxicity (GO:0001912)4.09903363
54regulation of B cell mediated immunity (GO:0002712)4.07421263
55positive regulation of interleukin-2 production (GO:0032743)4.03608550
56regulation of interleukin-12 biosynthetic process (GO:0045075)3.99607600
57regulation of immunoglobulin production (GO:0002637)3.97302289
58positive regulation of humoral immune response (GO:0002922)3.94860092
59positive regulation of DNA recombination (GO:0045911)3.93231163
60positive regulation of immunoglobulin production (GO:0002639)3.90996838
61regulation of leukocyte mediated cytotoxicity (GO:0001910)3.90619354
62antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.89227251
63positive regulation of cell killing (GO:0031343)3.85006348
64CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.78926067
65regulation of response to tumor cell (GO:0002834)3.76973901
66positive regulation of response to tumor cell (GO:0002836)3.76973901
67positive regulation of immune response to tumor cell (GO:0002839)3.76973901
68regulation of immune response to tumor cell (GO:0002837)3.76973901
69detection of bacterium (GO:0016045)3.76032516
70tumor necrosis factor-mediated signaling pathway (GO:0033209)3.74850341
71B cell receptor signaling pathway (GO:0050853)3.74396895
72regulation of cell killing (GO:0031341)3.72893430
73myeloid dendritic cell differentiation (GO:0043011)3.70351583
74interferon-gamma-mediated signaling pathway (GO:0060333)3.69329113
75negative regulation of T cell mediated immunity (GO:0002710)3.68121584
76regulation of immunoglobulin secretion (GO:0051023)3.65022806
77T cell differentiation (GO:0030217)3.63539782
78positive regulation of B cell differentiation (GO:0045579)3.63352351
79detection of other organism (GO:0098543)3.60035320
80regulation of chronic inflammatory response (GO:0002676)3.58476461
81positive regulation by organism of defense response of other organism involved in symbiotic interact3.56741166
82modulation by symbiont of host immune response (GO:0052553)3.56741166
83positive regulation by symbiont of host defense response (GO:0052509)3.56741166
84modulation by symbiont of host defense response (GO:0052031)3.56741166
85modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.56741166
86modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.56741166
87regulation of response to interferon-gamma (GO:0060330)3.56303250
88regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.54801350
89mast cell activation (GO:0045576)3.51074992
90regulation of B cell differentiation (GO:0045577)3.50058771
91T cell activation (GO:0042110)3.49723502
92positive regulation of calcium-mediated signaling (GO:0050850)3.49621115
93myeloid dendritic cell activation (GO:0001773)3.47101423
94positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.47020365
95B cell mediated immunity (GO:0019724)3.46580135
96NIK/NF-kappaB signaling (GO:0038061)3.46159687
97positive regulation of lymphocyte mediated immunity (GO:0002708)3.46096563
98regulation of defense response to virus by virus (GO:0050690)3.45361054
99germinal center formation (GO:0002467)3.44948915
100regulation of dendritic cell antigen processing and presentation (GO:0002604)3.44862945
101alpha-beta T cell differentiation (GO:0046632)3.44055259
102negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.41204031
103negative regulation of T cell receptor signaling pathway (GO:0050860)3.37396123
104sequestering of actin monomers (GO:0042989)3.35802783
105negative regulation of interleukin-12 production (GO:0032695)3.35622487
106alpha-beta T cell activation (GO:0046631)3.34703368
107regulation of lymphocyte mediated immunity (GO:0002706)3.33176135
108regulation of interleukin-2 production (GO:0032663)3.31646391
109negative regulation of lymphocyte mediated immunity (GO:0002707)3.28232805
110alpha-beta T cell differentiation involved in immune response (GO:0002293)3.27515277
111alpha-beta T cell activation involved in immune response (GO:0002287)3.27515277
112T cell differentiation involved in immune response (GO:0002292)3.27515277
113response to muramyl dipeptide (GO:0032495)3.26788524
114CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.25718821
115T-helper cell differentiation (GO:0042093)3.25718821
116* positive regulation of T cell activation (GO:0050870)3.23713684
117positive regulation of interleukin-4 production (GO:0032753)3.22870671
118T cell homeostasis (GO:0043029)3.21692588
119immune response-activating cell surface receptor signaling pathway (GO:0002429)3.17556800
120defense response to protozoan (GO:0042832)3.10421219
121regulation of interleukin-4 production (GO:0032673)3.09888075
122T cell proliferation (GO:0042098)3.09867020
123positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.09133007
124leukocyte cell-cell adhesion (GO:0007159)3.08332201
125regulation of antigen processing and presentation (GO:0002577)3.06310576
126regulation of type I interferon-mediated signaling pathway (GO:0060338)3.05816793
127lymphocyte migration (GO:0072676)3.04253143
128response to protozoan (GO:0001562)3.03823325
129B cell homeostasis (GO:0001782)3.01065169
130response to peptidoglycan (GO:0032494)2.99430098
131macrophage activation involved in immune response (GO:0002281)2.97787732
132cytidine metabolic process (GO:0046087)2.96983344
133cytidine catabolic process (GO:0006216)2.96983344
134cytidine deamination (GO:0009972)2.96983344
135negative regulation of leukocyte mediated immunity (GO:0002704)2.94420290
136regulation of T cell mediated cytotoxicity (GO:0001914)2.91646620
137positive regulation of antigen processing and presentation (GO:0002579)2.91393162
138negative regulation of cytokine production involved in immune response (GO:0002719)2.90798551
139cellular response to interferon-gamma (GO:0071346)2.88838614
140negative regulation of innate immune response (GO:0045824)2.86638411
141regulation of alpha-beta T cell activation (GO:0046634)2.85643412
142positive regulation of T cell mediated cytotoxicity (GO:0001916)2.85557639
143cellular extravasation (GO:0045123)2.83685766
144pyrimidine ribonucleoside catabolic process (GO:0046133)2.83016992
145regulation of T-helper 1 cell differentiation (GO:0045625)2.82373767
146regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.81400400
147lymphocyte chemotaxis (GO:0048247)2.81271237

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse8.68570360
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human6.41563988
3STAT4_19710469_ChIP-ChIP_TH1__Mouse4.07994508
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.00590559
5* STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.98966867
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.94059080
7RUNX_20019798_ChIP-Seq_JUKART_Human3.65837008
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.62387297
9MYB_26560356_Chip-Seq_TH2_Human3.42666180
10MYC_22102868_ChIP-Seq_BL_Human3.32883284
11FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.21922664
12E2F7_22180533_ChIP-Seq_HELA_Human3.20784620
13BP1_19119308_ChIP-ChIP_Hs578T_Human2.99082468
14MAF_26560356_Chip-Seq_TH1_Human2.96980213
15MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.76139092
16MYB_26560356_Chip-Seq_TH1_Human2.75514623
17SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.72269513
18NOTCH1_21737748_ChIP-Seq_TLL_Human2.69651396
19* UTX_26944678_Chip-Seq_JUKART_Human2.58849497
20IRF8_21731497_ChIP-ChIP_J774_Mouse2.48189295
21NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.34164206
22* MAF_26560356_Chip-Seq_TH2_Human2.18989011
23SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.08624588
24* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.05088673
25VDR_21846776_ChIP-Seq_THP-1_Human2.01528765
26GATA3_27048872_Chip-Seq_THYMUS_Human2.00687912
27* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.92423628
28EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.89459205
29EGR1_19374776_ChIP-ChIP_THP-1_Human1.85667903
30RUNX1_22412390_ChIP-Seq_EML_Mouse1.81940636
31SPI1_23547873_ChIP-Seq_NB4_Human1.78451507
32RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.75241347
33E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.73816638
34NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66467393
35SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.64087742
36IRF8_27001747_Chip-Seq_BMDM_Mouse1.62775206
37FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.62224478
38KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.53339289
39MYB_21317192_ChIP-Seq_ERMYB_Mouse1.52378328
40VDR_24763502_ChIP-Seq_THP-1_Human1.52369717
41* TCF7_22412390_ChIP-Seq_EML_Mouse1.51733297
42VDR_23849224_ChIP-Seq_CD4+_Human1.46538489
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.45084450
44ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.44622170
45RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.43702122
46SCL_19346495_ChIP-Seq_HPC-7_Human1.42816651
47SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.41332149
48ELF1_17652178_ChIP-ChIP_JURKAT_Human1.40858082
49* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.40222384
50NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.39764576
51VDR_24787735_ChIP-Seq_THP-1_Human1.38439115
52KDM2B_26808549_Chip-Seq_DND41_Human1.36502945
53MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.36339873
54* LXR_22292898_ChIP-Seq_THP-1_Human1.29537906
55SPI1_23127762_ChIP-Seq_K562_Human1.28264544
56FOXP3_21729870_ChIP-Seq_TREG_Human1.26086019
57VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.25725433
58GATA3_26560356_Chip-Seq_TH2_Human1.25541158
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.22449119
60BRD4_27068464_Chip-Seq_AML-cells_Mouse1.19386365
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.19056031
62CIITA_25753668_ChIP-Seq_RAJI_Human1.17906958
63SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.15253668
64Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.11971597
65CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10704493
66KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07942232
67* PU_27001747_Chip-Seq_BMDM_Mouse1.07801620
68CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07271809
69* GATA1_19941827_ChIP-Seq_MEL_Mouse1.05330090
70PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04335177
71PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04079676
72FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.02676793
73E2F4_17652178_ChIP-ChIP_JURKAT_Human1.01735472
74BCL6_27268052_Chip-Seq_Bcells_Human1.00432750
75CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00268887
76GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99813235
77GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.98372560
78BCOR_27268052_Chip-Seq_Bcells_Human0.96988077
79GABP_17652178_ChIP-ChIP_JURKAT_Human0.95935266
80EGR1_19032775_ChIP-ChIP_M12_Human0.95680975
81NCOR1_26117541_ChIP-Seq_K562_Human0.95368470
82GATA1_19941826_ChIP-Seq_K562_Human0.94551363
83ERG_20887958_ChIP-Seq_HPC-7_Mouse0.93364129
84KDM2B_26808549_Chip-Seq_JURKAT_Human0.92851719
85FOXM1_23109430_ChIP-Seq_U2OS_Human0.92411230
86HOXB4_20404135_ChIP-ChIP_EML_Mouse0.90434798
87PU.1_20513432_ChIP-Seq_Bcells_Mouse0.89041652
88ELK3_25401928_ChIP-Seq_HUVEC_Human0.88652978
89CTCF_27219007_Chip-Seq_ERYTHROID_Human0.87700168
90CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87637474
91THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.87352458
92GATA1_22025678_ChIP-Seq_K562_Human0.85713305
93* SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.84658181
94VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.84224499
95TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.83146196
96EST1_17652178_ChIP-ChIP_JURKAT_Human0.82636527
97* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81956844
98* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81671800
99BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.80482064
100SA1_27219007_Chip-Seq_ERYTHROID_Human0.79649497
101STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.79340293
102GATA1_22383799_ChIP-Seq_G1ME_Mouse0.79081458
103TFEB_21752829_ChIP-Seq_HELA_Human0.79010190
104* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.78858384
105ELK1_19687146_ChIP-ChIP_HELA_Human0.78663779
106PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.77084791
107SRY_22984422_ChIP-ChIP_TESTIS_Rat0.76673734
108XRN2_22483619_ChIP-Seq_HELA_Human0.76659638
109* LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.75216823
110CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.74930728
111NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.74393540
112MYC_18555785_ChIP-Seq_MESCs_Mouse0.72158292
113LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.71615040
114PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.71429519
115SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.71232165
116RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.69789513
117DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.65795630
118TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.65589189
119ELF1_20517297_ChIP-Seq_JURKAT_Human0.64677785
120MYC_19079543_ChIP-ChIP_MESCs_Mouse0.63934679

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology5.76131882
2* MP0005671_abnormal_response_to5.07186218
3MP0001835_abnormal_antigen_presentation3.68970000
4MP0000685_abnormal_immune_system3.61671107
5MP0009333_abnormal_splenocyte_physiolog3.30136696
6* MP0001800_abnormal_humoral_immune3.27593968
7* MP0005000_abnormal_immune_tolerance3.27224470
8MP0001790_abnormal_immune_system3.14824720
9MP0005387_immune_system_phenotype3.14824720
10MP0002166_altered_tumor_susceptibility3.01822440
11MP0006082_CNS_inflammation3.00790877
12MP0002723_abnormal_immune_serum2.97468614
13MP0003724_increased_susceptibility_to2.93993287
14MP0009785_altered_susceptibility_to2.93967966
15MP0001819_abnormal_immune_cell2.92441352
16* MP0002420_abnormal_adaptive_immunity2.92258907
17MP0001873_stomach_inflammation2.84527344
18* MP0002398_abnormal_bone_marrow2.81528015
19MP0002405_respiratory_system_inflammati2.78540225
20MP0000703_abnormal_thymus_morphology2.69200410
21MP0005025_abnormal_response_to2.66378820
22MP0002452_abnormal_antigen_presenting2.66376621
23MP0003436_decreased_susceptibility_to2.61710835
24MP0003300_gastrointestinal_ulcer2.49230715
25* MP0000716_abnormal_immune_system2.48705684
26MP0002722_abnormal_immune_system2.37631784
27MP0002006_tumorigenesis2.37269052
28MP0003866_abnormal_defecation2.29564818
29MP0010155_abnormal_intestine_physiology2.24776142
30* MP0000689_abnormal_spleen_morphology2.20438651
31MP0004947_skin_inflammation2.13768333
32MP0002148_abnormal_hypersensitivity_rea2.04259544
33* MP0002429_abnormal_blood_cell2.00387871
34MP0004510_myositis1.92772937
35* MP0002933_joint_inflammation1.88329038
36MP0002396_abnormal_hematopoietic_system1.86866709
37MP0001853_heart_inflammation1.86098460
38MP0002419_abnormal_innate_immunity1.84240147
39MP0009840_abnormal_foam_cell1.71170547
40* MP0001845_abnormal_inflammatory_respons1.70519727
41MP0000858_altered_metastatic_potential1.60867281
42MP0003172_abnormal_lysosome_physiology1.56422187
43MP0009278_abnormal_bone_marrow1.56051231
44MP0003303_peritoneal_inflammation1.54872478
45MP0003448_altered_tumor_morphology1.40050831
46MP0005310_abnormal_salivary_gland1.34014528
47MP0001533_abnormal_skeleton_physiology1.29754755
48MP0008469_abnormal_protein_level1.28593117
49MP0000465_gastrointestinal_hemorrhage1.27515070
50MP0005451_abnormal_body_composition1.27194749
51MP0005464_abnormal_platelet_physiology1.25786538
52MP0001851_eye_inflammation1.18557434
53MP0005058_abnormal_lysosome_morphology1.16676822
54MP0004381_abnormal_hair_follicle1.15752685
55MP0002254_reproductive_system_inflammat1.09071881
56MP0000490_abnormal_crypts_of1.04056512
57MP0002019_abnormal_tumor_incidence1.03808823
58MP0000604_amyloidosis0.99696925
59MP0004808_abnormal_hematopoietic_stem0.98367390
60MP0002277_abnormal_respiratory_mucosa0.91938089
61MP0001348_abnormal_lacrimal_gland0.88816118
62MP0008260_abnormal_autophagy0.88742467
63MP0003045_fibrosis0.88664311
64MP0008057_abnormal_DNA_replication0.85610579
65MP0009763_increased_sensitivity_to0.85459086
66MP0002998_abnormal_bone_remodeling0.83655775
67MP0003075_altered_response_to0.82479487
68MP0002132_abnormal_respiratory_system0.82111785
69MP0003191_abnormal_cellular_cholesterol0.80652528
70MP0005023_abnormal_wound_healing0.79552682
71MP0003183_abnormal_peptide_metabolism0.79017866
72MP0009765_abnormal_xenobiotic_induced0.78824065
73MP0005075_abnormal_melanosome_morpholog0.78497846
74MP0010352_gastrointestinal_tract_polyps0.75107635
75MP0002139_abnormal_hepatobiliary_system0.72984077
76MP0009764_decreased_sensitivity_to0.69220839
77MP0002138_abnormal_hepatobiliary_system0.69073419
78MP0000477_abnormal_intestine_morphology0.67511471
79MP0008961_abnormal_basal_metabolism0.65501836
80MP0003795_abnormal_bone_structure0.64157680
81MP0003091_abnormal_cell_migration0.62913002
82MP0001545_abnormal_hematopoietic_system0.61753061
83MP0005397_hematopoietic_system_phenotyp0.61753061
84MP0001881_abnormal_mammary_gland0.60302980
85MP0005076_abnormal_cell_differentiation0.59411192
86MP0003077_abnormal_cell_cycle0.59258552
87MP0001663_abnormal_digestive_system0.59013556
88MP0005166_decreased_susceptibility_to0.57439394
89MP0000609_abnormal_liver_physiology0.57349917
90MP0002009_preneoplasia0.57141562
91MP0003828_pulmonary_edema0.56862371
92MP0008007_abnormal_cellular_replicative0.56725087
93MP0010234_abnormal_vibrissa_follicle0.56319354
94MP0001243_abnormal_dermal_layer0.53857405
95MP0004957_abnormal_blastocyst_morpholog0.52407431
96MP0001727_abnormal_embryo_implantation0.51168982
97MP0002163_abnormal_gland_morphology0.49908476
98MP0000371_diluted_coat_color0.48600992
99MP0008873_increased_physiological_sensi0.47573262
100* MP0002693_abnormal_pancreas_physiology0.47427689
101MP0008874_decreased_physiological_sensi0.47400730
102MP0002877_abnormal_melanocyte_morpholog0.47267854
103MP0001191_abnormal_skin_condition0.46435258
104MP0005381_digestive/alimentary_phenotyp0.46132866
105MP0000343_altered_response_to0.45611017
106MP0009115_abnormal_fat_cell0.44242990
107MP0000313_abnormal_cell_death0.43326093
108MP0001216_abnormal_epidermal_layer0.42435059
109MP0005390_skeleton_phenotype0.42220354
110* MP0002136_abnormal_kidney_physiology0.41269812
111MP0003221_abnormal_cardiomyocyte_apopto0.40835424
112MP0003453_abnormal_keratinocyte_physiol0.39499104
113MP0003656_abnormal_erythrocyte_physiolo0.38820010
114MP0010307_abnormal_tumor_latency0.38684303
115MP0003693_abnormal_embryo_hatching0.38634000
116MP0002822_catalepsy0.38503957
117MP0010094_abnormal_chromosome_stability0.38066995
118* MP0000249_abnormal_blood_vessel0.35193046
119MP0003329_amyloid_beta_deposits0.34876631
120MP0005165_increased_susceptibility_to0.34548696
121* MP0002083_premature_death0.34415003
122MP0008569_lethality_at_weaning0.33064230
123MP0008872_abnormal_physiological_respon0.32717661

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)6.92385100
2Abnormality of T cell number (HP:0011839)6.68031670
3Elevated erythrocyte sedimentation rate (HP:0003565)6.36011501
4IgM deficiency (HP:0002850)6.26232363
5Recurrent bronchitis (HP:0002837)6.22003607
6Severe combined immunodeficiency (HP:0004430)6.09403006
7Abnormality of B cell number (HP:0010975)5.94104630
8B lymphocytopenia (HP:0010976)5.94104630
9Combined immunodeficiency (HP:0005387)5.54566365
10Abnormality of T cells (HP:0002843)5.52937682
11IgG deficiency (HP:0004315)5.31660952
12Stomatitis (HP:0010280)5.24286122
13Myositis (HP:0100614)5.02715437
14Eczematoid dermatitis (HP:0000976)4.91459917
15Abnormality of macrophages (HP:0004311)4.53427468
16Autoimmune hemolytic anemia (HP:0001890)4.35641462
17Recurrent bacterial skin infections (HP:0005406)4.33860814
18IgA deficiency (HP:0002720)4.31582727
19Recurrent fungal infections (HP:0002841)4.20784952
20Lymphopenia (HP:0001888)4.18906585
21Panhypogammaglobulinemia (HP:0003139)4.18679992
22Increased IgM level (HP:0003496)4.17981674
23Abnormality of T cell physiology (HP:0011840)4.17779620
24Optic neuritis (HP:0100653)4.15839109
25Retrobulbar optic neuritis (HP:0100654)4.15839109
26Abnormality of cells of the lymphoid lineage (HP:0012140)4.01682323
27Chronic diarrhea (HP:0002028)3.93847532
28Nasal polyposis (HP:0100582)3.77509455
29Joint swelling (HP:0001386)3.75726131
30Chronic otitis media (HP:0000389)3.75185942
31Orchitis (HP:0100796)3.73719634
32Chronic mucocutaneous candidiasis (HP:0002728)3.65234870
33Recurrent cutaneous fungal infections (HP:0011370)3.65234870
34Gastrointestinal infarctions (HP:0005244)3.62919240
35Recurrent sinusitis (HP:0011108)3.61499763
36Increased density of long bones (HP:0006392)3.59572348
37Abnormality of eosinophils (HP:0001879)3.55974818
38Pulmonary infiltrates (HP:0002113)3.55655808
39Vasculitis (HP:0002633)3.53283438
40Bronchitis (HP:0012387)3.50197473
41Pustule (HP:0200039)3.44237750
42Recurrent viral infections (HP:0004429)3.41616385
43Autoimmune thrombocytopenia (HP:0001973)3.41202790
44Gastrointestinal stroma tumor (HP:0100723)3.33902119
45Colitis (HP:0002583)3.16758433
46Hemoptysis (HP:0002105)3.15166774
47Abnormality of the nasal mucosa (HP:0000433)3.14767436
48Leukocytosis (HP:0001974)3.13130513
49Thyroiditis (HP:0100646)3.09208234
50Recurrent otitis media (HP:0000403)2.99101274
51Keratoconjunctivitis sicca (HP:0001097)2.94403557
52Eosinophilia (HP:0001880)2.93246669
53Lymphoma (HP:0002665)2.90997162
54Hypergammaglobulinemia (HP:0010702)2.89318181
55Meningitis (HP:0001287)2.87044786
56Arterial thrombosis (HP:0004420)2.86188726
57Mediastinal lymphadenopathy (HP:0100721)2.82706539
58Recurrent gram-negative bacterial infections (HP:0005420)2.79787015
59Cellulitis (HP:0100658)2.74989268
60Thrombocytosis (HP:0001894)2.74669490
61Urticaria (HP:0001025)2.71620222
62Abnormality of the fingertips (HP:0001211)2.71476163
63Chronic obstructive pulmonary disease (HP:0006510)2.67653478
64Obstructive lung disease (HP:0006536)2.67653478
65Abnormal delayed hypersensitivity skin test (HP:0002963)2.64613089
66Keratoconjunctivitis (HP:0001096)2.64298602
67Hypoplasia of the thymus (HP:0000778)2.60365660
68Persistence of primary teeth (HP:0006335)2.59094269
69Granulocytopenia (HP:0001913)2.58760102
70Gangrene (HP:0100758)2.55741322
71Encephalitis (HP:0002383)2.49603945
72Basal cell carcinoma (HP:0002671)2.47085174
73Recurrent abscess formation (HP:0002722)2.46814823
74Emphysema (HP:0002097)2.42179636
75Abnormality of the prostate (HP:0008775)2.39534304
76Pulmonary embolism (HP:0002204)2.37754053
77Gingivitis (HP:0000230)2.34407599
78Abnormality of glycolipid metabolism (HP:0010969)2.33510986
79Abnormality of liposaccharide metabolism (HP:0010968)2.33510986
80Abnormality of glycosphingolipid metabolism (HP:0004343)2.33510986
81Anorexia (HP:0002039)2.27629767
82Chest pain (HP:0100749)2.27081964
83Inflammation of the large intestine (HP:0002037)2.24414813
84Recurrent skin infections (HP:0001581)2.22342777
85Systemic lupus erythematosus (HP:0002725)2.21878202
86Arthralgia (HP:0002829)2.21022372
87Gastrointestinal inflammation (HP:0004386)2.19800590
88Ureteral stenosis (HP:0000071)2.19138484
89Osteomyelitis (HP:0002754)2.16331074
90Premature loss of primary teeth (HP:0006323)2.15227484
91Epistaxis (HP:0000421)2.14893540
92Amaurosis fugax (HP:0100576)2.10712882
93Restrictive lung disease (HP:0002091)2.08584271
94Agammaglobulinemia (HP:0004432)2.06878740
95Petechiae (HP:0000967)2.06428934
96Hypochromic anemia (HP:0001931)2.06315785
97Hypertensive crisis (HP:0100735)2.02813038
98Sepsis (HP:0100806)2.01722474
99Abnormality of the pleura (HP:0002103)2.01626486
100Prolonged bleeding time (HP:0003010)2.00681463
101Bronchiectasis (HP:0002110)2.00399452
102Pulmonary fibrosis (HP:0002206)1.99088941
103Amyotrophic lateral sclerosis (HP:0007354)1.98159661
104Increased cerebral lipofuscin (HP:0011813)1.97459916
105Papilloma (HP:0012740)1.97429972
106Verrucae (HP:0200043)1.97429972
107Reduced subcutaneous adipose tissue (HP:0003758)1.97079554
108Ureteral obstruction (HP:0006000)1.96342000
109Acute hepatic failure (HP:0006554)1.95863896
110Increased serum ferritin (HP:0003281)1.94200222
111Slow saccadic eye movements (HP:0000514)1.92932782
112Polyneuropathy (HP:0001271)1.92311177
113Increased IgE level (HP:0003212)1.89821214
114Interstitial pulmonary disease (HP:0006530)1.86587545
115Chronic sinusitis (HP:0011109)1.86562257
116Diplopia (HP:0000651)1.84872923
117Abnormality of binocular vision (HP:0011514)1.84872923
118Abnormality of the endocardium (HP:0004306)1.81947206
119Acrocyanosis (HP:0001063)1.79916077
120Spontaneous hematomas (HP:0007420)1.79313200
121Skin ulcer (HP:0200042)1.78209944
122Glomerulopathy (HP:0100820)1.77689903
123Skin rash (HP:0000988)1.71171178
124Trigonocephaly (HP:0000243)1.70928114

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK7.09680570
2MAP4K15.88293569
3ZAP704.12330952
4PRPF4B3.63365984
5RIPK43.32004932
6ITK3.29899002
7FGFR43.20640364
8JAK33.19029815
9KDR2.65454107
10IKBKE2.53325011
11BLK2.50605468
12TYK22.35188385
13MAP3K142.34839753
14JAK12.25215560
15LCK2.17178436
16TBK12.00217541
17TESK21.96111292
18CSK1.87599462
19FGFR31.78804007
20STK101.76151513
21SYK1.72167465
22GRK61.68622267
23TEC1.67634796
24NLK1.52492792
25HCK1.42455302
26SMG11.37271234
27TAOK21.36422535
28BTK1.20854666
29NME21.18495320
30EEF2K1.14620246
31PRKCH1.14310455
32IKBKB1.13588602
33MAP3K121.10696166
34PRKCQ1.08834151
35EPHA31.07899071
36KIT1.06904865
37MST41.03348161
38BMPR21.01906646
39TAOK31.00169524
40IRAK40.96334512
41LYN0.95716790
42LRRK20.94025944
43FGFR10.89998298
44GRK70.87201928
45CHUK0.85761207
46EPHB10.84445268
47FES0.83807323
48MAP3K10.81289946
49FGR0.79918327
50MAP3K30.77639057
51TYRO30.74707055
52MATK0.72498321
53TRIB30.71634181
54MAP2K60.68936144
55IRAK10.68572560
56JAK20.67945055
57MAP3K100.67300784
58CLK10.66592909
59CDC42BPA0.66110790
60MAPK120.65640024
61TSSK60.64711024
62FYN0.62418797
63IRAK30.62044309
64MAPK70.61741228
65BRD40.60465027
66RPS6KA40.58915728
67ALK0.58563542
68SIK20.58394901
69PIM10.57836738
70INSR0.57285382
71PDGFRB0.57280830
72MAP3K70.56297514
73TNK20.55029342
74CAMKK10.54867527
75SIK30.53533598
76MAP3K130.52432543
77CSF1R0.52080087
78EIF2AK10.51880237
79IGF1R0.51133464
80SIK10.50097736
81TGFBR20.47809858
82TESK10.45630528
83TAOK10.44767567
84MAP3K110.43491517
85CDC70.42225846
86MARK30.40938330
87ILK0.40698377
88MAP3K50.40496831
89CAMKK20.40433131
90PDK10.40357093
91CDK40.40173395
92TGFBR10.36866617
93RPS6KC10.35298019
94RPS6KL10.35298019
95CDK90.34785193
96PRKD20.33791633
97CDK120.32833365
98NTRK20.31354606
99MAPK40.31291694
100KSR20.30612325
101FGFR20.30402467
102PDPK10.30401139
103PASK0.28593977
104BUB10.28406337
105RPS6KA60.27131336
106TLK10.24953017
107MAPK110.24370694
108HIPK20.23984075
109CSNK1A1L0.23753238
110MAPK30.22270747
111RPS6KA50.20760920
112MELK0.19406694
113ERN10.19180585
114PIM20.18743200
115EGFR0.17543176
116MAP3K80.17478327
117MAPKAPK20.17097803
118IRAK20.16898575
119MAP2K30.16707643
120ACVR1B0.16575884
121SRC0.16283482
122CDK60.16116947
123ABL10.15934085
124MARK20.14557026
125STK240.14369974
126PRKCD0.13815212

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053406.49856788
2* T cell receptor signaling pathway_Homo sapiens_hsa046604.13268865
3Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.81576304
4Graft-versus-host disease_Homo sapiens_hsa053323.72299324
5Allograft rejection_Homo sapiens_hsa053303.67592731
6Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046503.18241654
7Intestinal immune network for IgA production_Homo sapiens_hsa046723.17261500
8Measles_Homo sapiens_hsa051622.91467185
9NF-kappa B signaling pathway_Homo sapiens_hsa040642.70061327
10Antigen processing and presentation_Homo sapiens_hsa046122.65050161
11Autoimmune thyroid disease_Homo sapiens_hsa053202.64177637
12Hematopoietic cell lineage_Homo sapiens_hsa046402.48565292
13Viral myocarditis_Homo sapiens_hsa054162.01982747
14Leishmaniasis_Homo sapiens_hsa051401.78971982
15Asthma_Homo sapiens_hsa053101.77942081
16Type I diabetes mellitus_Homo sapiens_hsa049401.76026492
17Osteoclast differentiation_Homo sapiens_hsa043801.74777229
18Jak-STAT signaling pathway_Homo sapiens_hsa046301.74263572
19Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.64419827
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.54730971
21RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.43095855
22Herpes simplex infection_Homo sapiens_hsa051681.40887705
23Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.35091110
24Systemic lupus erythematosus_Homo sapiens_hsa053221.30795353
25* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.27497405
26Chemokine signaling pathway_Homo sapiens_hsa040621.26755274
27B cell receptor signaling pathway_Homo sapiens_hsa046621.21754521
28Proteasome_Homo sapiens_hsa030501.19348975
29Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.16973439
30Shigellosis_Homo sapiens_hsa051311.13704861
31HTLV-I infection_Homo sapiens_hsa051661.13045659
32Toxoplasmosis_Homo sapiens_hsa051451.10233033
33Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.06398641
34Hepatitis B_Homo sapiens_hsa051611.01735472
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.01125835
36TNF signaling pathway_Homo sapiens_hsa046680.98721254
37Epstein-Barr virus infection_Homo sapiens_hsa051690.96884794
38Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.94906278
39Apoptosis_Homo sapiens_hsa042100.92122786
40Malaria_Homo sapiens_hsa051440.91950431
41Influenza A_Homo sapiens_hsa051640.88065229
42Viral carcinogenesis_Homo sapiens_hsa052030.84005439
43NOD-like receptor signaling pathway_Homo sapiens_hsa046210.82165390
44Ribosome_Homo sapiens_hsa030100.80951647
45Legionellosis_Homo sapiens_hsa051340.79461445
46Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77690038
47Acute myeloid leukemia_Homo sapiens_hsa052210.77233065
48Spliceosome_Homo sapiens_hsa030400.76992790
49Salmonella infection_Homo sapiens_hsa051320.72539439
50Phagosome_Homo sapiens_hsa041450.72111466
51Pancreatic cancer_Homo sapiens_hsa052120.70760361
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68844459
53Staphylococcus aureus infection_Homo sapiens_hsa051500.68383558
54Rheumatoid arthritis_Homo sapiens_hsa053230.67015973
55Prolactin signaling pathway_Homo sapiens_hsa049170.66610577
56Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65646596
57VEGF signaling pathway_Homo sapiens_hsa043700.65407889
58Tuberculosis_Homo sapiens_hsa051520.65295990
59Lysosome_Homo sapiens_hsa041420.64998705
60Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.64069154
61Toll-like receptor signaling pathway_Homo sapiens_hsa046200.62824408
62Hepatitis C_Homo sapiens_hsa051600.61435598
63DNA replication_Homo sapiens_hsa030300.61054037
64Colorectal cancer_Homo sapiens_hsa052100.54309399
65Mismatch repair_Homo sapiens_hsa034300.52561546
66AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52446990
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51120929
68p53 signaling pathway_Homo sapiens_hsa041150.50958748
69Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.46349357
70Non-homologous end-joining_Homo sapiens_hsa034500.45027331
71Prion diseases_Homo sapiens_hsa050200.44071592
72Renal cell carcinoma_Homo sapiens_hsa052110.43948972
73Chronic myeloid leukemia_Homo sapiens_hsa052200.43184687
74Caffeine metabolism_Homo sapiens_hsa002320.42011903
75Platelet activation_Homo sapiens_hsa046110.40113881
76Pertussis_Homo sapiens_hsa051330.40062471
77Base excision repair_Homo sapiens_hsa034100.39854801
78RNA degradation_Homo sapiens_hsa030180.38194150
79Type II diabetes mellitus_Homo sapiens_hsa049300.36209056
80Endocytosis_Homo sapiens_hsa041440.35337254
81Adipocytokine signaling pathway_Homo sapiens_hsa049200.33624003
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33069497
83Transcriptional misregulation in cancer_Homo sapiens_hsa052020.32390523
84Prostate cancer_Homo sapiens_hsa052150.31812371
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.30615896
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.29886185
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29106338
88Endometrial cancer_Homo sapiens_hsa052130.27366350
89Protein export_Homo sapiens_hsa030600.26985503
90Homologous recombination_Homo sapiens_hsa034400.26844910
91Other glycan degradation_Homo sapiens_hsa005110.26687017
92Notch signaling pathway_Homo sapiens_hsa043300.26274884
93Nucleotide excision repair_Homo sapiens_hsa034200.25833301
94mTOR signaling pathway_Homo sapiens_hsa041500.24408522
95Bladder cancer_Homo sapiens_hsa052190.24354407
96Alcoholism_Homo sapiens_hsa050340.22136453
97Pentose phosphate pathway_Homo sapiens_hsa000300.21494770
98Small cell lung cancer_Homo sapiens_hsa052220.21486005
99Phospholipase D signaling pathway_Homo sapiens_hsa040720.20750120
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.20481480
101MAPK signaling pathway_Homo sapiens_hsa040100.18954468
102RNA transport_Homo sapiens_hsa030130.18264776
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.17910075
104RNA polymerase_Homo sapiens_hsa030200.16220648
105Choline metabolism in cancer_Homo sapiens_hsa052310.16011367
106HIF-1 signaling pathway_Homo sapiens_hsa040660.15707001
107Rap1 signaling pathway_Homo sapiens_hsa040150.15402580
108African trypanosomiasis_Homo sapiens_hsa051430.13915833
109ErbB signaling pathway_Homo sapiens_hsa040120.13582874
110One carbon pool by folate_Homo sapiens_hsa006700.13440622
111Glycosaminoglycan degradation_Homo sapiens_hsa005310.13137480
112mRNA surveillance pathway_Homo sapiens_hsa030150.12206299
113Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.11659270
114GnRH signaling pathway_Homo sapiens_hsa049120.11342719
115Phosphatidylinositol signaling system_Homo sapiens_hsa040700.09719813
116Glioma_Homo sapiens_hsa052140.07613971
117Inositol phosphate metabolism_Homo sapiens_hsa005620.07300490
118Non-small cell lung cancer_Homo sapiens_hsa052230.06496689
119Dorso-ventral axis formation_Homo sapiens_hsa043200.05738309
120Thyroid cancer_Homo sapiens_hsa052160.05360063
121Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.04564279
122Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.04347280
123Insulin resistance_Homo sapiens_hsa049310.04336061
124FoxO signaling pathway_Homo sapiens_hsa040680.03632358
125Adherens junction_Homo sapiens_hsa045200.02909673

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