KIR2DL4

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: Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the 'framework' loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cytidine deamination (GO:0009972)8.65709466
2cytidine metabolic process (GO:0046087)8.65709466
3cytidine catabolic process (GO:0006216)8.65709466
4regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450918.01917061
5pyrimidine ribonucleoside catabolic process (GO:0046133)7.60155987
6cellular response to interleukin-15 (GO:0071350)6.97668818
7DNA deamination (GO:0045006)6.51641539
8response to interleukin-15 (GO:0070672)6.45514825
9regulation of interleukin-12 biosynthetic process (GO:0045075)6.21458376
10adaptation of signaling pathway (GO:0023058)6.17036295
11eosinophil chemotaxis (GO:0048245)5.80173303
12regulation of T cell chemotaxis (GO:0010819)5.72307536
13positive regulation of T cell chemotaxis (GO:0010820)5.72307536
14cell wall macromolecule catabolic process (GO:0016998)5.42045740
15regulation of activation of Janus kinase activity (GO:0010533)5.39714308
16negative regulation by host of viral transcription (GO:0043922)5.36032781
17regulation of lymphocyte chemotaxis (GO:1901623)5.29220164
18eosinophil migration (GO:0072677)5.22232621
19antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.01712243
20positive regulation of monocyte chemotaxis (GO:0090026)4.98635239
21regulation of regulatory T cell differentiation (GO:0045589)4.98198420
22regulation of gamma-delta T cell differentiation (GO:0045586)4.89997091
23regulation of chronic inflammatory response (GO:0002676)4.85096947
24monocyte chemotaxis (GO:0002548)4.70300065
25cell wall macromolecule metabolic process (GO:0044036)4.51387835
26negative regulation of viral genome replication (GO:0045071)4.48058521
27positive thymic T cell selection (GO:0045059)4.46303534
28interferon-gamma production (GO:0032609)4.43752776
29regulation of gamma-delta T cell activation (GO:0046643)4.42065911
30granulocyte activation (GO:0036230)4.32782831
31positive regulation of interleukin-8 secretion (GO:2000484)4.27178617
32positive regulation of lymphocyte migration (GO:2000403)4.26100074
33macrophage chemotaxis (GO:0048246)4.22815125
34negative T cell selection (GO:0043383)4.10231679
35regulation of mononuclear cell migration (GO:0071675)4.06238726
36positive T cell selection (GO:0043368)4.02499842
37regulation of macrophage chemotaxis (GO:0010758)4.02165930
38positive regulation of gamma-delta T cell activation (GO:0046645)3.93246554
39regulation of T cell tolerance induction (GO:0002664)3.91579001
40pyrimidine nucleoside catabolic process (GO:0046135)3.86641755
41T cell migration (GO:0072678)3.83264511
42negative regulation of T cell apoptotic process (GO:0070233)3.79529631
43chemokine-mediated signaling pathway (GO:0070098)3.77851449
44positive regulation of tolerance induction (GO:0002645)3.76358173
45lymphocyte chemotaxis (GO:0048247)3.75452011
46positive regulation of T cell migration (GO:2000406)3.73429899
47neutrophil activation (GO:0042119)3.72920323
48dendritic cell chemotaxis (GO:0002407)3.72839977
49protein neddylation (GO:0045116)3.72660314
50negative thymic T cell selection (GO:0045060)3.71057388
51lymph node development (GO:0048535)3.70618285
52natural killer cell activation (GO:0030101)3.60265931
53negative regulation of B cell proliferation (GO:0030889)3.58447754
54thymic T cell selection (GO:0045061)3.54790019
55positive regulation of defense response to virus by host (GO:0002230)3.54665397
56regulation of chemokine-mediated signaling pathway (GO:0070099)3.53567120
57positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.53487740
58* cellular defense response (GO:0006968)3.51365104
59regulation of T cell migration (GO:2000404)3.50805054
60positive regulation of natural killer cell mediated immunity (GO:0002717)3.50417149
61regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.49708908
62regulation of natural killer cell mediated immunity (GO:0002715)3.49708908
63positive regulation of macrophage differentiation (GO:0045651)3.48494882
64positive regulation of T cell mediated cytotoxicity (GO:0001916)3.46442037
65regulation of leukocyte mediated cytotoxicity (GO:0001910)3.45364260
66positive regulation of translational initiation (GO:0045948)3.39734076
67regulation of lymphocyte migration (GO:2000401)3.39076362
68T cell costimulation (GO:0031295)3.36280041
69regulation of monocyte chemotaxis (GO:0090025)3.35820795
70positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.32653878
71regulation of B cell receptor signaling pathway (GO:0050855)3.32620887
72lymphocyte costimulation (GO:0031294)3.31684575
73regulation of T cell mediated cytotoxicity (GO:0001914)3.31454219
74positive regulation of T cell apoptotic process (GO:0070234)3.29352708
75positive regulation of calcium-mediated signaling (GO:0050850)3.26814116
76positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.25304050
77regulation of tolerance induction (GO:0002643)3.23312523
78negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.18391649
79negative regulation of T-helper cell differentiation (GO:0045623)3.18391649
80positive regulation of alpha-beta T cell proliferation (GO:0046641)3.17710570
81regulation of cell killing (GO:0031341)3.16507034
82negative regulation of B cell activation (GO:0050869)3.13725436
83T cell selection (GO:0045058)3.11403246
84positive regulation of cell killing (GO:0031343)3.09966451
85regulation of alpha-beta T cell proliferation (GO:0046640)3.07667289
86negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.06842658
87negative regulation of cell killing (GO:0031342)3.06842658
88regulation of homotypic cell-cell adhesion (GO:0034110)3.01449712
89leukocyte degranulation (GO:0043299)3.00576878
90dendritic cell migration (GO:0036336)2.97820314
91positive regulation of interleukin-12 production (GO:0032735)2.96063274
92production of molecular mediator involved in inflammatory response (GO:0002532)2.95978079
93antigen processing and presentation via MHC class Ib (GO:0002475)2.95244272
94positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.95062029
95regulation of viral genome replication (GO:0045069)2.92824273
96positive regulation of cell adhesion mediated by integrin (GO:0033630)2.91923872
97diterpenoid biosynthetic process (GO:0016102)2.91565218
98lymphocyte migration (GO:0072676)2.91296595
99regulation of interleukin-8 secretion (GO:2000482)2.88648188
100Arp2/3 complex-mediated actin nucleation (GO:0034314)2.86865080

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human7.77780830
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.04857676
3IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.17259577
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.83579053
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.36092952
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.20988645
7RUNX_20019798_ChIP-Seq_JUKART_Human3.09559882
8IRF8_21731497_ChIP-ChIP_J774_Mouse3.03821545
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.88570512
10GATA1_22025678_ChIP-Seq_K562_Human2.79555413
11TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.76402890
12MYB_26560356_Chip-Seq_TH2_Human2.60160758
13STAT4_19710469_ChIP-ChIP_TH1__Mouse2.36021680
14STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.18005608
15RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.16628189
16LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.11686965
17GATA3_27048872_Chip-Seq_THYMUS_Human2.03988993
18BP1_19119308_ChIP-ChIP_Hs578T_Human10.3803289
19BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.93455944
20CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.89279438
21SMAD_19615063_ChIP-ChIP_OVARY_Human1.88803028
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.82941492
23MYB_26560356_Chip-Seq_TH1_Human1.73711340
24FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.67545680
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.64322929
26MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.63594265
27IRF8_27001747_Chip-Seq_BMDM_Mouse1.56620431
28VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.54664714
29NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.54143004
30PCGF2_27294783_Chip-Seq_ESCs_Mouse1.50478140
31LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.44018802
32GATA3_26560356_Chip-Seq_TH2_Human1.42798304
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.41133837
34UTX_26944678_Chip-Seq_JUKART_Human1.40397250
35NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.39970387
36CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.39149194
37RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.35875002
38SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.33587834
39TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.27350851
40SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.22271517
41PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.18882304
42PCGF2_27294783_Chip-Seq_NPCs_Mouse1.17269955
43MAF_26560356_Chip-Seq_TH1_Human1.17054381
44GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.16553743
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.16218023
46RUNX1_22412390_ChIP-Seq_EML_Mouse1.15128781
47NFE2_27457419_Chip-Seq_LIVER_Mouse1.13730730
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.11083055
49SPI1_23547873_ChIP-Seq_NB4_Human1.10447917
50MAF_26560356_Chip-Seq_TH2_Human1.10225324
51PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08769998
52SPI1_23127762_ChIP-Seq_K562_Human1.07044793
53ZNF274_21170338_ChIP-Seq_K562_Hela1.05872746
54RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.04733450
55SMRT_27268052_Chip-Seq_Bcells_Human1.04137212
56GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.03704674
57BCL6_27268052_Chip-Seq_Bcells_Human1.02778442
58P300_27268052_Chip-Seq_Bcells_Human1.02324962
59FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02017790
60PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.01381407
61IKZF1_21737484_ChIP-ChIP_HCT116_Human1.00420205
62BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.96881563
63PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92823933
64FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92121320
65EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.91127424
66CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90584891
67PRDM14_20953172_ChIP-Seq_ESCs_Human0.88984868
68TAF2_19829295_ChIP-Seq_ESCs_Human0.88150248
69FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.85846255
70BCOR_27268052_Chip-Seq_Bcells_Human0.85625557
71AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85573819
72VDR_23849224_ChIP-Seq_CD4+_Human0.84839511
73EZH2_27294783_Chip-Seq_NPCs_Mouse0.84582515
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.83778014
75E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.83083587
76CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82875654
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.81806327
78RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.81298910
79CIITA_25753668_ChIP-Seq_RAJI_Human0.80993086
80NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.79092189
81AR_20517297_ChIP-Seq_VCAP_Human0.76233626
82RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.75537573
83FLI1_21867929_ChIP-Seq_CD8_Mouse0.75403847
84BRD4_27068464_Chip-Seq_AML-cells_Mouse0.74660347
85EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.74227403
86HTT_18923047_ChIP-ChIP_STHdh_Human0.73965522
87GATA3_26560356_Chip-Seq_TH1_Human0.73068007
88BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.73042725
89TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.72379048
90ELF1_20517297_ChIP-Seq_JURKAT_Human0.71851428
91P53_21459846_ChIP-Seq_SAOS-2_Human0.71125600
92EGR1_23403033_ChIP-Seq_LIVER_Mouse0.70421807
93OCT4_20526341_ChIP-Seq_ESCs_Human0.70271391
94RAC3_21632823_ChIP-Seq_H3396_Human0.69876149
95SPI1_20517297_ChIP-Seq_HL60_Human0.69761647
96CTCF_20526341_ChIP-Seq_ESCs_Human0.69138543
97FOXA1_27270436_Chip-Seq_PROSTATE_Human0.68614173
98FOXA1_25329375_ChIP-Seq_VCAP_Human0.68614173
99SMAD1_18555785_Chip-Seq_ESCs_Mouse0.68333366
100VDR_24763502_ChIP-Seq_THP-1_Human0.67963618

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to5.78725042
2MP0000569_abnormal_digit_pigmentation5.23818988
3MP0006082_CNS_inflammation3.96091915
4MP0001835_abnormal_antigen_presentation3.63655924
5MP0009785_altered_susceptibility_to3.61968154
6MP0003763_abnormal_thymus_physiology3.10427738
7MP0003866_abnormal_defecation3.00100017
8MP0005000_abnormal_immune_tolerance2.91867974
9MP0002148_abnormal_hypersensitivity_rea2.89507639
10MP0001800_abnormal_humoral_immune2.83355588
11MP0005025_abnormal_response_to2.66753532
12MP0001853_heart_inflammation2.64122008
13MP0005387_immune_system_phenotype2.59757138
14MP0001790_abnormal_immune_system2.59757138
15MP0002723_abnormal_immune_serum2.57618205
16MP0002420_abnormal_adaptive_immunity2.56917438
17MP0001819_abnormal_immune_cell2.53426622
18MP0000685_abnormal_immune_system2.32185390
19MP0003436_decreased_susceptibility_to2.31485558
20MP0001873_stomach_inflammation2.24166588
21MP0002452_abnormal_antigen_presenting2.24129519
22MP0005174_abnormal_tail_pigmentation2.14818336
23MP0010155_abnormal_intestine_physiology2.11479250
24MP0002398_abnormal_bone_marrow2.10658883
25MP0002405_respiratory_system_inflammati2.06047270
26MP0004510_myositis2.01063579
27MP0000716_abnormal_immune_system2.00121230
28MP0005310_abnormal_salivary_gland1.94644126
29MP0002419_abnormal_innate_immunity1.86746552
30MP0000015_abnormal_ear_pigmentation1.75393873
31MP0001845_abnormal_inflammatory_respons1.72572130
32MP0009333_abnormal_splenocyte_physiolog1.68062205
33MP0002877_abnormal_melanocyte_morpholog1.67551361
34MP0003045_fibrosis1.62636471
35MP0002429_abnormal_blood_cell1.58967300
36MP0004947_skin_inflammation1.54244420
37MP0000703_abnormal_thymus_morphology1.49775035
38MP0002722_abnormal_immune_system1.49025976
39MP0002234_abnormal_pharynx_morphology1.48984160
40MP0000689_abnormal_spleen_morphology1.48860104
41MP0003448_altered_tumor_morphology1.40202649
42MP0009765_abnormal_xenobiotic_induced1.37414507
43MP0002933_joint_inflammation1.33849006
44MP0003724_increased_susceptibility_to1.31414497
45MP0005075_abnormal_melanosome_morpholog1.30075131
46MP0002095_abnormal_skin_pigmentation1.28501088
47MP0002166_altered_tumor_susceptibility1.28289879
48MP0005464_abnormal_platelet_physiology1.25667211
49MP0003786_premature_aging1.16212809
50MP0000858_altered_metastatic_potential1.16147542
51MP0010307_abnormal_tumor_latency1.13892280
52MP0002006_tumorigenesis1.10108494
53MP0009763_increased_sensitivity_to1.08750814
54MP0006054_spinal_hemorrhage1.07750200
55MP0008469_abnormal_protein_level1.07710386
56MP0002132_abnormal_respiratory_system1.05392150
57MP0004381_abnormal_hair_follicle1.05024523
58MP0005083_abnormal_biliary_tract1.00573067
59MP0003183_abnormal_peptide_metabolism1.00331879
60MP0002693_abnormal_pancreas_physiology0.98910383
61MP0008789_abnormal_olfactory_epithelium0.95831995
62MP0004147_increased_porphyrin_level0.95260946
63MP0002332_abnormal_exercise_endurance0.92918767
64MP0004130_abnormal_muscle_cell0.91810694
65MP0002277_abnormal_respiratory_mucosa0.87535101
66MP0001533_abnormal_skeleton_physiology0.85577513
67MP0009764_decreased_sensitivity_to0.84621885
68MP0005253_abnormal_eye_physiology0.78985245
69MP0002168_other_aberrant_phenotype0.78613730
70MP0005167_abnormal_blood-brain_barrier0.78281478
71MP0002998_abnormal_bone_remodeling0.78002850
72MP0002876_abnormal_thyroid_physiology0.77064917
73MP0000920_abnormal_myelination0.76981864
74MP0001324_abnormal_eye_pigmentation0.75750546
75MP0002102_abnormal_ear_morphology0.74718861
76MP0005551_abnormal_eye_electrophysiolog0.73931286
77MP0000371_diluted_coat_color0.71797966
78MP0002136_abnormal_kidney_physiology0.69986187
79MP0002019_abnormal_tumor_incidence0.69107447
80MP0003950_abnormal_plasma_membrane0.66552912
81MP0008260_abnormal_autophagy0.59175097
82MP0003806_abnormal_nucleotide_metabolis0.56937414
83MP0001919_abnormal_reproductive_system0.56924914
84MP0004043_abnormal_pH_regulation0.55888212
85MP0000604_amyloidosis0.54900995
86MP0001542_abnormal_bone_strength0.54848894
87MP0003690_abnormal_glial_cell0.54282563
88MP0005499_abnormal_olfactory_system0.52365458
89MP0005394_taste/olfaction_phenotype0.52365458
90MP0000465_gastrointestinal_hemorrhage0.49755541
91MP0001191_abnormal_skin_condition0.49681145
92MP0005390_skeleton_phenotype0.48819887
93MP0004185_abnormal_adipocyte_glucose0.47996974
94MP0003011_delayed_dark_adaptation0.45161651
95MP0005360_urolithiasis0.43787692
96MP0005058_abnormal_lysosome_morphology0.43723313
97MP0001984_abnormal_olfaction0.43567194
98MP0005636_abnormal_mineral_homeostasis0.42628387
99MP0000343_altered_response_to0.42589249
100MP0001661_extended_life_span0.42449940

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)7.41687152
2Abnormality of T cell number (HP:0011839)6.75199814
3Abnormality of T cells (HP:0002843)5.23423689
4Stomatitis (HP:0010280)5.16348336
5Chronic bronchitis (HP:0004469)4.96854044
6Chronic diarrhea (HP:0002028)4.90537327
7Absent rod-and cone-mediated responses on ERG (HP:0007688)4.74681968
8Joint swelling (HP:0001386)4.63410613
9Abnormal delayed hypersensitivity skin test (HP:0002963)4.49409901
10IgG deficiency (HP:0004315)4.35057993
11Dynein arm defect of respiratory motile cilia (HP:0012255)4.06749323
12Absent/shortened dynein arms (HP:0200106)4.06749323
13Abnormal rod and cone electroretinograms (HP:0008323)3.89713498
14Bronchitis (HP:0012387)3.88706786
15Pustule (HP:0200039)3.84924955
16Hypoproteinemia (HP:0003075)3.67083094
17Recurrent viral infections (HP:0004429)3.64944896
18Progressive inability to walk (HP:0002505)3.58430872
19Nasal polyposis (HP:0100582)3.52205430
20Recurrent fungal infections (HP:0002841)3.52205264
21Lymphopenia (HP:0001888)3.47176819
22Abnormality of T cell physiology (HP:0011840)3.42609254
23Chronic hepatic failure (HP:0100626)3.33283165
24Cutaneous melanoma (HP:0012056)3.31350520
25Meningitis (HP:0001287)3.26374289
26Pulmonary infiltrates (HP:0002113)3.21703255
27Congenital stationary night blindness (HP:0007642)3.20195598
28Hypoalbuminemia (HP:0003073)3.18913899
29Abnormal albumin level (HP:0012116)3.18913899
30Abnormality of cells of the lymphoid lineage (HP:0012140)3.18509853
31Albinism (HP:0001022)3.18304481
32Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.17441519
33Recurrent bronchitis (HP:0002837)3.14355546
34Autoimmune hemolytic anemia (HP:0001890)3.05425172
35Abnormality of the nasal mucosa (HP:0000433)2.99639790
36Ureteral stenosis (HP:0000071)2.99129236
37Severe visual impairment (HP:0001141)2.97640016
38Optic neuritis (HP:0100653)2.92119462
39Retrobulbar optic neuritis (HP:0100654)2.92119462
40Myositis (HP:0100614)2.90975324
41Methylmalonic aciduria (HP:0012120)2.90197892
42Encephalitis (HP:0002383)2.85858522
43Recurrent sinusitis (HP:0011108)2.85134557
44Severe combined immunodeficiency (HP:0004430)2.82313196
45Pulmonary fibrosis (HP:0002206)2.79637813
46IgA deficiency (HP:0002720)2.77507515
47Hemoptysis (HP:0002105)2.77073785
48Ureteral obstruction (HP:0006000)2.75966213
49Chronic mucocutaneous candidiasis (HP:0002728)2.74934373
50Recurrent cutaneous fungal infections (HP:0011370)2.74934373
51Recurrent abscess formation (HP:0002722)2.71654771
52Abnormality of the prostate (HP:0008775)2.68542170
53Orchitis (HP:0100796)2.66370239
54Obstructive lung disease (HP:0006536)2.64916925
55Chronic obstructive pulmonary disease (HP:0006510)2.64916925
56Abnormal ciliary motility (HP:0012262)2.64165488
57Abnormal respiratory motile cilium physiology (HP:0012261)2.58327240
58Hyperventilation (HP:0002883)2.55073583
59Vasculitis (HP:0002633)2.52671808
60Gangrene (HP:0100758)2.52250879
61Abnormality of the pleura (HP:0002103)2.50820844
62Abnormality of macrophages (HP:0004311)2.47710437
63Panhypogammaglobulinemia (HP:0003139)2.46380577
64Recurrent otitis media (HP:0000403)2.46125550
65Recurrent bacterial skin infections (HP:0005406)2.44689026
66Bronchiectasis (HP:0002110)2.43536057
67Chest pain (HP:0100749)2.37747253
68Abnormality of eosinophils (HP:0001879)2.33168104
69Autoimmune thrombocytopenia (HP:0001973)2.32180096
70Hemiplegia (HP:0002301)2.27233084
71Abnormal respiratory epithelium morphology (HP:0012253)2.26798578
72Abnormal respiratory motile cilium morphology (HP:0005938)2.26798578
73Elevated erythrocyte sedimentation rate (HP:0003565)2.26190919
74Combined immunodeficiency (HP:0005387)2.25972393
75Gingivitis (HP:0000230)2.24427955
76Pancreatic cysts (HP:0001737)2.22833731
77Constricted visual fields (HP:0001133)2.20685978
78Hepatosplenomegaly (HP:0001433)2.16436862
79Increased IgM level (HP:0003496)2.14268539
80Abnormality of the renal collecting system (HP:0004742)2.13550140
81Leukocytosis (HP:0001974)2.11802600
82Recurrent skin infections (HP:0001581)2.11256011
83Cheilitis (HP:0100825)2.09852127
84Increased serum ferritin (HP:0003281)2.04972711
85IgM deficiency (HP:0002850)2.03630901
86Abnormality of midbrain morphology (HP:0002418)2.01241381
87Molar tooth sign on MRI (HP:0002419)2.01241381
88Pulmonary embolism (HP:0002204)2.00964701
89Keratoconjunctivitis sicca (HP:0001097)2.00340509
90Abnormality of transition element cation homeostasis (HP:0011030)1.98944141
91Eosinophilia (HP:0001880)1.98365186
92Inability to walk (HP:0002540)1.97172968
93Agammaglobulinemia (HP:0004432)1.92935776
94Ocular albinism (HP:0001107)1.92605471
95Keratoconjunctivitis (HP:0001096)1.88694483
96Granulocytopenia (HP:0001913)1.86630556
97Decreased activity of mitochondrial respiratory chain (HP:0008972)1.85585711
98Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.85585711
99Hematochezia (HP:0002573)1.84858576
100Polyneuropathy (HP:0001271)1.84567273

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK73.21155640
2ITK2.67751805
3MOS2.47731344
4TGFBR22.39915525
5ACVR1B2.24007672
6DAPK22.17733606
7MST42.10664083
8KDR2.09264757
9TXK11.7474816
10STK101.83970880
11MAPKAPK31.83819687
12MAP4K11.78895921
13FES1.70546581
14TAOK31.58263885
15CSK1.51252254
16SYK1.48858105
17GRK51.48476116
18JAK31.34376807
19IRAK31.33649715
20PDK11.25666668
21CDK191.24531059
22TESK21.22224041
23NME11.17698199
24LCK1.17297704
25EIF2AK11.16257295
26BCKDK1.15944245
27JAK21.11325494
28TLK11.11163688
29DAPK11.11014740
30TYK21.09988450
31CSF1R1.07939818
32ZAP701.07826156
33MAP2K61.03992342
34IKBKE1.01225454
35IKBKB0.93959713
36GRK60.90185576
37IRAK40.89517005
38JAK10.89198690
39TBK10.85735948
40OXSR10.85004436
41FRK0.84906588
42MELK0.81852918
43KIT0.79415261
44PRKCQ0.79288380
45IGF1R0.79012178
46LYN0.76034989
47WNK40.75477685
48NUAK10.74963169
49NEK20.71871593
50FYN0.71689525
51ADRBK20.70359374
52IRAK10.69835523
53BLK0.69334917
54MAP4K20.69139715
55STK160.63085604
56CLK10.62963388
57MAP3K130.60110239
58RIPK40.59701182
59STK110.58475785
60EIF2AK20.58057686
61PDK20.55394956
62GRK10.54313136
63PRKD30.50086244
64TEC0.49723859
65PRKCH0.47708580
66MAP2K20.45328717
67FGR0.42401983
68MAPKAPK20.41286092
69AURKA0.40289790
70BTK0.39952245
71MAP3K60.39589170
72PDPK10.38365876
73SIK20.37897962
74PIK3CG0.34595916
75RPS6KA60.33849609
76MAP3K110.33655100
77CAMKK20.33318705
78CHUK0.32869139
79TNK20.32486873
80ADRBK10.31856691
81INSR0.31131470
82PIK3CA0.30105527
83MAP3K140.29420983
84MAPK130.26307606
85PRKCZ0.25312960
86HCK0.23944599
87MUSK0.23750312
88ARAF0.23099831
89PRKCI0.22554580
90LIMK10.20495943
91MAPK150.20452401
92RPS6KA50.20333906
93FGFR10.19801494
94PIM10.19563817
95RPS6KA20.18985562
96RPS6KL10.17462830
97RPS6KC10.17462830
98MAP3K90.17308005
99INSRR0.16514629
100CAMKK10.16459401

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.57416923
2Graft-versus-host disease_Homo sapiens_hsa053324.49225849
3* Antigen processing and presentation_Homo sapiens_hsa046123.95249806
4* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046503.62553974
5Autoimmune thyroid disease_Homo sapiens_hsa053203.48241631
6Allograft rejection_Homo sapiens_hsa053303.00192526
7Hematopoietic cell lineage_Homo sapiens_hsa046402.86170807
8Rheumatoid arthritis_Homo sapiens_hsa053232.79349693
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.64867457
10T cell receptor signaling pathway_Homo sapiens_hsa046602.55977984
11NF-kappa B signaling pathway_Homo sapiens_hsa040642.36924588
12Type I diabetes mellitus_Homo sapiens_hsa049402.13868215
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.12739730
14Cytokine-cytokine receptor interaction_Homo sapiens_hsa040602.07558175
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.95344784
16Measles_Homo sapiens_hsa051621.81444654
17Proteasome_Homo sapiens_hsa030501.57390219
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.55065479
19Asthma_Homo sapiens_hsa053101.52322901
20Chemokine signaling pathway_Homo sapiens_hsa040621.49987618
21Jak-STAT signaling pathway_Homo sapiens_hsa046301.49806556
22RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.45305409
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.39450630
24Toll-like receptor signaling pathway_Homo sapiens_hsa046201.38127690
25Staphylococcus aureus infection_Homo sapiens_hsa051501.36892615
26Viral myocarditis_Homo sapiens_hsa054161.35092011
27Prion diseases_Homo sapiens_hsa050201.34858019
28Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.34649166
29Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.28588162
30Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.18252167
31Osteoclast differentiation_Homo sapiens_hsa043801.17337737
32Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.11339130
33Leishmaniasis_Homo sapiens_hsa051401.09377882
34Malaria_Homo sapiens_hsa051441.01969316
35TNF signaling pathway_Homo sapiens_hsa046681.01135343
36Linoleic acid metabolism_Homo sapiens_hsa005911.00848622
37Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.98815768
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.97050612
39alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.95621680
40Salmonella infection_Homo sapiens_hsa051320.92942943
41Influenza A_Homo sapiens_hsa051640.91464410
42Pertussis_Homo sapiens_hsa051330.89521316
43African trypanosomiasis_Homo sapiens_hsa051430.88698814
44Legionellosis_Homo sapiens_hsa051340.87821375
45Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.86466920
46Phototransduction_Homo sapiens_hsa047440.86014675
47Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81898029
48Herpes simplex infection_Homo sapiens_hsa051680.79618607
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78505845
50Shigellosis_Homo sapiens_hsa051310.78487367
51Nitrogen metabolism_Homo sapiens_hsa009100.70174190
52Tuberculosis_Homo sapiens_hsa051520.63515195
53Peroxisome_Homo sapiens_hsa041460.61690343
54Apoptosis_Homo sapiens_hsa042100.61384135
55HTLV-I infection_Homo sapiens_hsa051660.59933415
56Oxidative phosphorylation_Homo sapiens_hsa001900.57754670
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.53330427
58VEGF signaling pathway_Homo sapiens_hsa043700.52784524
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51340485
60Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48008117
61Parkinsons disease_Homo sapiens_hsa050120.46283487
62Epstein-Barr virus infection_Homo sapiens_hsa051690.43547713
63Endocytosis_Homo sapiens_hsa041440.41417313
64Chemical carcinogenesis_Homo sapiens_hsa052040.40578883
65B cell receptor signaling pathway_Homo sapiens_hsa046620.40273065
66Salivary secretion_Homo sapiens_hsa049700.38454559
67Renin secretion_Homo sapiens_hsa049240.37649999
68Tryptophan metabolism_Homo sapiens_hsa003800.36470643
69Alzheimers disease_Homo sapiens_hsa050100.35419220
70Fanconi anemia pathway_Homo sapiens_hsa034600.32949581
71Retinol metabolism_Homo sapiens_hsa008300.32352126
72Ovarian steroidogenesis_Homo sapiens_hsa049130.31113709
73Regulation of autophagy_Homo sapiens_hsa041400.29949425
74RNA polymerase_Homo sapiens_hsa030200.29724193
75Phagosome_Homo sapiens_hsa041450.28157358
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.28152989
77Platelet activation_Homo sapiens_hsa046110.27257557
78Lysosome_Homo sapiens_hsa041420.27177056
79Toxoplasmosis_Homo sapiens_hsa051450.26759886
80Collecting duct acid secretion_Homo sapiens_hsa049660.25297867
81GABAergic synapse_Homo sapiens_hsa047270.25012152
82Morphine addiction_Homo sapiens_hsa050320.24734235
83ABC transporters_Homo sapiens_hsa020100.24718606
84Bladder cancer_Homo sapiens_hsa052190.24337883
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.24042711
86Vascular smooth muscle contraction_Homo sapiens_hsa042700.23932925
87Cardiac muscle contraction_Homo sapiens_hsa042600.22872702
88Non-small cell lung cancer_Homo sapiens_hsa052230.22122144
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.21587423
90Viral carcinogenesis_Homo sapiens_hsa052030.21060355
91Huntingtons disease_Homo sapiens_hsa050160.20946689
92Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19260457
93Hepatitis C_Homo sapiens_hsa051600.18459966
94MAPK signaling pathway_Homo sapiens_hsa040100.18102562
95Ether lipid metabolism_Homo sapiens_hsa005650.16500624
96Calcium signaling pathway_Homo sapiens_hsa040200.16160971
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.16061944
98Renin-angiotensin system_Homo sapiens_hsa046140.15769634
99Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.14608517
100Olfactory transduction_Homo sapiens_hsa047400.14279374

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