HLA-G

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-G 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. HLA-G is expressed on fetal derived placental 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 exon 6 encodes the cytoplasmic tail. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.29871992
2cytidine metabolic process (GO:0046087)5.24236366
3cytidine catabolic process (GO:0006216)5.24236366
4cytidine deamination (GO:0009972)5.24236366
5negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)5.15147113
6DNA deamination (GO:0045006)4.82868188
7negative regulation of cell killing (GO:0031342)4.66832151
8negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.66832151
9regulation of memory T cell differentiation (GO:0043380)4.56910648
10regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.47548786
11pyrimidine ribonucleoside catabolic process (GO:0046133)4.47165286
12antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.42136543
13* positive regulation of T cell mediated cytotoxicity (GO:0001916)4.40532390
14antigen processing and presentation of endogenous antigen (GO:0019883)4.24535796
15* regulation of T cell mediated cytotoxicity (GO:0001914)4.22466580
16* positive regulation of leukocyte mediated cytotoxicity (GO:0001912)4.20240525
17regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.11757554
18positive thymic T cell selection (GO:0045059)4.06824438
19antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.03778545
20regulation of gamma-delta T cell differentiation (GO:0045586)4.00825299
21* regulation of leukocyte mediated cytotoxicity (GO:0001910)4.00623927
22antigen processing and presentation via MHC class Ib (GO:0002475)3.99368254
23cellular response to interleukin-15 (GO:0071350)3.93156405
24positive regulation of natural killer cell mediated immunity (GO:0002717)3.79392648
25regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.77860551
26regulation of natural killer cell mediated immunity (GO:0002715)3.77860551
27* positive regulation of cell killing (GO:0031343)3.75528325
28parturition (GO:0007567)3.69447331
29mast cell activation (GO:0045576)3.68824219
30regulation of T cell chemotaxis (GO:0010819)3.64395707
31positive regulation of T cell chemotaxis (GO:0010820)3.64395707
32positive regulation of gamma-delta T cell activation (GO:0046645)3.63433748
33* regulation of cell killing (GO:0031341)3.61873630
34regulation of chronic inflammatory response (GO:0002676)3.58533508
35positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)3.55394655
36regulation of gamma-delta T cell activation (GO:0046643)3.53749233
37positive regulation of defense response to virus by host (GO:0002230)3.49030867
38* regulation of regulatory T cell differentiation (GO:0045589)3.47531546
39interferon-gamma production (GO:0032609)3.44837573
40positive T cell selection (GO:0043368)3.44668377
41thymic T cell selection (GO:0045061)3.35212211
42positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.34854325
43positive regulation of lymphocyte migration (GO:2000403)3.34391875
44negative T cell selection (GO:0043383)3.31185373
45regulation of lymphocyte chemotaxis (GO:1901623)3.26375755
46positive regulation of T cell migration (GO:2000406)3.25377077
47response to interleukin-15 (GO:0070672)3.25225605
48regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.23560879
49interferon-gamma secretion (GO:0072643)3.15152738
50negative regulation of T cell apoptotic process (GO:0070233)3.10397382
51positive regulation of calcium-mediated signaling (GO:0050850)3.08728650
52positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.07059083
53response to interferon-beta (GO:0035456)3.04625820
54regulation of T cell migration (GO:2000404)3.04337039
55negative thymic T cell selection (GO:0045060)3.03958793
56response to protozoan (GO:0001562)3.01738516
57Arp2/3 complex-mediated actin nucleation (GO:0034314)3.00094819
58T-helper cell differentiation (GO:0042093)2.99917828
59CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.99917828
60neutrophil activation (GO:0042119)2.97828690
61positive regulation of interferon-gamma production (GO:0032729)2.97451505
62neutrophil activation involved in immune response (GO:0002283)2.96220977
63regulation of alpha-beta T cell proliferation (GO:0046640)2.92335888
64mitochondrial calcium ion transport (GO:0006851)2.92112648
65negative regulation of viral genome replication (GO:0045071)2.91178796
66regulation of lymphocyte migration (GO:2000401)2.90859918
67* positive regulation of T cell mediated immunity (GO:0002711)2.89399481
68regulation of B cell receptor signaling pathway (GO:0050855)2.89300183
69T cell selection (GO:0045058)2.87551773
70T cell differentiation involved in immune response (GO:0002292)2.87016343
71alpha-beta T cell differentiation involved in immune response (GO:0002293)2.87016343
72alpha-beta T cell activation involved in immune response (GO:0002287)2.87016343
73positive regulation of antigen processing and presentation (GO:0002579)2.87014837
74granulocyte activation (GO:0036230)2.86115563
75actin nucleation (GO:0045010)2.84339493
76defense response to protozoan (GO:0042832)2.83738645
77positive regulation of alpha-beta T cell proliferation (GO:0046641)2.82598583
78lymph node development (GO:0048535)2.79195496
79* type I interferon signaling pathway (GO:0060337)2.77475153
80* cellular response to type I interferon (GO:0071357)2.77475153
81* response to type I interferon (GO:0034340)2.76489604
82* positive regulation of lymphocyte mediated immunity (GO:0002708)2.75402064
83positive regulation of T-helper 1 type immune response (GO:0002827)2.74923415
84regulation of antigen processing and presentation (GO:0002577)2.74526855
85negative regulation of T cell differentiation (GO:0045581)2.73288604
86positive regulation of interleukin-8 secretion (GO:2000484)2.73142416
87T cell receptor signaling pathway (GO:0050852)2.72325953
88negative regulation of type 2 immune response (GO:0002829)2.69578297
89regulation of T cell receptor signaling pathway (GO:0050856)2.69567317
90regulation of isotype switching to IgG isotypes (GO:0048302)2.67131303
91positive regulation of interleukin-17 production (GO:0032740)2.64099678
92negative regulation of viral entry into host cell (GO:0046597)2.63956597
93regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)2.63461856
94immunoglobulin mediated immune response (GO:0016064)2.61826508
95T cell migration (GO:0072678)2.61626823
96regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.61430517
97* regulation of T cell mediated immunity (GO:0002709)2.61323398
98* cellular defense response (GO:0006968)2.61196462
99regulation of interleukin-2 biosynthetic process (GO:0045076)2.60879990
100antigen receptor-mediated signaling pathway (GO:0050851)2.59706963

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.77402957
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.82434578
3IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.79944322
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.58034332
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.09032517
6RUNX_20019798_ChIP-Seq_JUKART_Human2.92312732
7IRF8_21731497_ChIP-ChIP_J774_Mouse2.80133650
8STAT4_19710469_ChIP-ChIP_TH1__Mouse2.49335921
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.47879475
10RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.39759351
11MYB_26560356_Chip-Seq_TH2_Human2.29616125
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.18848714
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.09922083
14LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.03958159
15RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.99828226
16* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.99731568
17MYB_26560356_Chip-Seq_TH1_Human1.93036366
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.86536689
19GATA3_26560356_Chip-Seq_TH2_Human1.80740981
20STAT6_21828071_ChIP-Seq_BEAS2B_Human1.80475159
21GATA3_27048872_Chip-Seq_THYMUS_Human1.68567562
22E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.63212241
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.61152289
24IRF8_27001747_Chip-Seq_BMDM_Mouse1.56410661
25MAF_26560356_Chip-Seq_TH2_Human1.51281814
26EGR1_23403033_ChIP-Seq_LIVER_Mouse1.51117156
27BCL6_27268052_Chip-Seq_Bcells_Human1.46873247
28MAF_26560356_Chip-Seq_TH1_Human1.46493976
29STAT1_20625510_ChIP-Seq_HELA_Human1.43586597
30FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.40881227
31MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.34277755
32TP63_17297297_ChIP-ChIP_HaCaT_Human1.32421256
33LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.31389122
34GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.30046466
35GATA2_21666600_ChIP-Seq_HMVEC_Human1.28877526
36EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.28403459
37P300_27268052_Chip-Seq_Bcells_Human1.27079274
38UTX_26944678_Chip-Seq_JUKART_Human1.26217910
39SPI1_23547873_ChIP-Seq_NB4_Human1.25686212
40EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.24462214
41FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.23281740
42STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.21265718
43FLI1_27457419_Chip-Seq_LIVER_Mouse1.20704754
44CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.20610585
45ZNF274_21170338_ChIP-Seq_K562_Hela1.17741098
46SA1_27219007_Chip-Seq_Bcells_Human1.16946420
47BCOR_27268052_Chip-Seq_Bcells_Human1.16704918
48MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.14507021
49* RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.14012800
50ELF1_17652178_ChIP-ChIP_JURKAT_Human1.13017016
51* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.12985573
52VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.12966822
53MYC_19829295_ChIP-Seq_ESCs_Human1.08467201
54SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.07764180
55ELF1_20517297_ChIP-Seq_JURKAT_Human1.07718868
56SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03936281
57EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02782877
58BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02334685
59EGR1_19032775_ChIP-ChIP_M12_Human1.01684904
60YY1_22570637_ChIP-Seq_MALME-3M_Human1.01615316
61* CTCF_20526341_ChIP-Seq_ESCs_Human1.01326051
62GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.99708330
63RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.99590436
64SPI1_20517297_ChIP-Seq_HL60_Human0.99214904
65SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.98814640
66NANOG_20526341_ChIP-Seq_ESCs_Human0.97677831
67TAF2_19829295_ChIP-Seq_ESCs_Human0.96835647
68* FOXH1_21741376_ChIP-Seq_ESCs_Human0.96217734
69SCL_19346495_ChIP-Seq_HPC-7_Human0.95911135
70CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94358459
71CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.93845945
72CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93660370
73CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92597726
74GATA3_21878914_ChIP-Seq_MCF-7_Human0.92451619
75PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91666870
76* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.90701488
77JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89180592
78P63_26484246_Chip-Seq_KERATINOCYTES_Human0.89137668
79CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88238073
80CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.88056809
81* P53_21459846_ChIP-Seq_SAOS-2_Human0.87341016
82VDR_24787735_ChIP-Seq_THP-1_Human0.87333885
83JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86852541
84AR_20517297_ChIP-Seq_VCAP_Human0.85577030
85PCGF2_27294783_Chip-Seq_ESCs_Mouse0.85304322
86RUNX1_22412390_ChIP-Seq_EML_Mouse0.85289981
87ESR1_15608294_ChIP-ChIP_MCF-7_Human0.85164683
88VDR_22108803_ChIP-Seq_LS180_Human0.84431128
89E2F1_20622854_ChIP-Seq_HELA_Human0.84310944
90BRD4_27068464_Chip-Seq_AML-cells_Mouse0.83704816
91MYB_21317192_ChIP-Seq_ERMYB_Mouse0.83022034
92CTCF_26484167_Chip-Seq_Bcells_Mouse0.82783911
93GATA6_21074721_ChIP-Seq_CACO-2_Human0.82536104
94ERA_21632823_ChIP-Seq_H3396_Human0.82090174
95SRY_22984422_ChIP-ChIP_TESTIS_Rat0.82077359
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.80111595
97P68_20966046_ChIP-Seq_HELA_Human0.78957631
98FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.78794372
99RBPJ_21746931_ChIP-Seq_IB4_Human0.78484337
100RAD21_21589869_ChIP-Seq_MESCs_Mouse0.78130493

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to4.35840930
2MP0001835_abnormal_antigen_presentation3.42722048
3MP0009785_altered_susceptibility_to3.33878281
4MP0003436_decreased_susceptibility_to2.88397739
5MP0003724_increased_susceptibility_to2.84606318
6MP0005000_abnormal_immune_tolerance2.68192919
7MP0002148_abnormal_hypersensitivity_rea2.64515117
8MP0009333_abnormal_splenocyte_physiolog2.60162139
9MP0005075_abnormal_melanosome_morpholog2.54706619
10MP0000372_irregular_coat_pigmentation2.44639512
11MP0001800_abnormal_humoral_immune2.44436333
12MP0004381_abnormal_hair_follicle2.43525441
13MP0001790_abnormal_immune_system2.41619025
14MP0005387_immune_system_phenotype2.41619025
15MP0000685_abnormal_immune_system2.32778054
16MP0005025_abnormal_response_to2.31767552
17MP0005645_abnormal_hypothalamus_physiol2.30423941
18MP0002723_abnormal_immune_serum2.27777810
19MP0002138_abnormal_hepatobiliary_system2.16421220
20MP0003866_abnormal_defecation2.15306755
21MP0003763_abnormal_thymus_physiology2.14928364
22MP0001873_stomach_inflammation2.11518416
23MP0003646_muscle_fatigue2.09636699
24MP0002420_abnormal_adaptive_immunity2.07156461
25MP0001819_abnormal_immune_cell2.03286352
26MP0002452_abnormal_antigen_presenting2.01805178
27MP0005171_absent_coat_pigmentation1.97158171
28MP0001919_abnormal_reproductive_system1.87061019
29MP0002166_altered_tumor_susceptibility1.85501958
30MP0002419_abnormal_innate_immunity1.85210854
31MP0004947_skin_inflammation1.83951120
32MP0005646_abnormal_pituitary_gland1.83065988
33MP0010155_abnormal_intestine_physiology1.77839117
34MP0003136_yellow_coat_color1.72512147
35MP0003878_abnormal_ear_physiology1.67326696
36MP0005377_hearing/vestibular/ear_phenot1.67326696
37MP0001845_abnormal_inflammatory_respons1.62379657
38MP0001533_abnormal_skeleton_physiology1.59326818
39MP0006082_CNS_inflammation1.58425849
40MP0002405_respiratory_system_inflammati1.57658936
41MP0005464_abnormal_platelet_physiology1.52477990
42MP0009764_decreased_sensitivity_to1.48833806
43MP0000716_abnormal_immune_system1.45531202
44MP0002006_tumorigenesis1.42297091
45MP0002398_abnormal_bone_marrow1.38434939
46MP0002933_joint_inflammation1.32149336
47MP0002876_abnormal_thyroid_physiology1.30679120
48MP0004019_abnormal_vitamin_homeostasis1.27384254
49MP0003183_abnormal_peptide_metabolism1.26306990
50MP0000689_abnormal_spleen_morphology1.20544745
51MP0000013_abnormal_adipose_tissue1.19955415
52MP0001501_abnormal_sleep_pattern1.18799676
53MP0002722_abnormal_immune_system1.18575691
54MP0001851_eye_inflammation1.17055388
55MP0000371_diluted_coat_color1.15591049
56MP0008469_abnormal_protein_level1.13405710
57MP0000604_amyloidosis1.13127779
58MP0001502_abnormal_circadian_rhythm1.12411638
59MP0003045_fibrosis1.12017439
60MP0002429_abnormal_blood_cell1.08659589
61MP0003638_abnormal_response/metabolism_1.07535116
62MP0002277_abnormal_respiratory_mucosa1.04587243
63MP0005174_abnormal_tail_pigmentation1.03677119
64MP0002095_abnormal_skin_pigmentation1.01000196
65MP0002254_reproductive_system_inflammat0.99163427
66MP0003786_premature_aging0.98670011
67MP0005408_hypopigmentation0.98647584
68MP0005085_abnormal_gallbladder_physiolo0.95379523
69MP0001765_abnormal_ion_homeostasis0.94343691
70MP0002998_abnormal_bone_remodeling0.93522027
71MP0000703_abnormal_thymus_morphology0.92506120
72MP0005167_abnormal_blood-brain_barrier0.91845367
73MP0002877_abnormal_melanocyte_morpholog0.89650551
74MP0005166_decreased_susceptibility_to0.88173295
75MP0000465_gastrointestinal_hemorrhage0.87474198
76MP0002136_abnormal_kidney_physiology0.86890076
77MP0003075_altered_response_to0.86008855
78MP0008872_abnormal_physiological_respon0.85613384
79MP0005389_reproductive_system_phenotype0.84437935
80MP0005310_abnormal_salivary_gland0.80653768
81MP0009763_increased_sensitivity_to0.80303242
82MP0009643_abnormal_urine_homeostasis0.80158712
83MP0008875_abnormal_xenobiotic_pharmacok0.79591237
84MP0003303_peritoneal_inflammation0.78860766
85MP0005410_abnormal_fertilization0.78267969
86MP0005058_abnormal_lysosome_morphology0.77295953
87MP0002075_abnormal_coat/hair_pigmentati0.76376815
88MP0002139_abnormal_hepatobiliary_system0.75562087
89MP0001905_abnormal_dopamine_level0.75428607
90MP0003448_altered_tumor_morphology0.75090610
91MP0000230_abnormal_systemic_arterial0.74618847
92MP0001727_abnormal_embryo_implantation0.73891740
93MP0002102_abnormal_ear_morphology0.71023634
94MP0004742_abnormal_vestibular_system0.69239101
95MP0005390_skeleton_phenotype0.68596369
96MP0001348_abnormal_lacrimal_gland0.68267531
97MP0005253_abnormal_eye_physiology0.68213425
98MP0005636_abnormal_mineral_homeostasis0.68174319
99MP0004147_increased_porphyrin_level0.68118211
100MP0001663_abnormal_digestive_system0.68032315

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)4.83947423
2Abnormality of T cell number (HP:0011839)4.61520319
3IgG deficiency (HP:0004315)4.41303079
4Abnormality of B cell number (HP:0010975)3.88106310
5Elevated erythrocyte sedimentation rate (HP:0003565)3.72187706
6Abnormality of T cells (HP:0002843)3.65444946
7Severe combined immunodeficiency (HP:0004430)3.48449236
8B lymphocytopenia (HP:0010976)3.45144239
9Retrobulbar optic neuritis (HP:0100654)3.38268356
10Optic neuritis (HP:0100653)3.38268356
11Axonal loss (HP:0003447)3.36178492
12Myositis (HP:0100614)3.22328397
13Congenital stationary night blindness (HP:0007642)3.16363698
14Pustule (HP:0200039)3.14552661
15Stomatitis (HP:0010280)3.09286191
16Pulmonary infiltrates (HP:0002113)3.08846004
17Chronic diarrhea (HP:0002028)3.07458548
18Orchitis (HP:0100796)3.02656271
19Abnormality of glycolipid metabolism (HP:0010969)2.99920142
20Abnormality of liposaccharide metabolism (HP:0010968)2.99920142
21Abnormality of glycosphingolipid metabolism (HP:0004343)2.99920142
22Meningitis (HP:0001287)2.83519124
23Abnormality of T cell physiology (HP:0011840)2.82530309
24Autoimmune hemolytic anemia (HP:0001890)2.82394044
25Increased IgM level (HP:0003496)2.82360769
26Hypoproteinemia (HP:0003075)2.81357396
27Gastrointestinal infarctions (HP:0005244)2.78781920
28Combined immunodeficiency (HP:0005387)2.74495070
29Abnormal delayed hypersensitivity skin test (HP:0002963)2.73933656
30Abnormality of the prostate (HP:0008775)2.72477995
31Gangrene (HP:0100758)2.70524916
32Abnormality of eosinophils (HP:0001879)2.68110498
33Recurrent bronchitis (HP:0002837)2.65563117
34Hypoplasia of the fovea (HP:0007750)2.63386743
35Aplasia/Hypoplasia of the fovea (HP:0008060)2.63386743
36Conical tooth (HP:0000698)2.58787267
37Keratoconjunctivitis (HP:0001096)2.58087230
38Vasculitis (HP:0002633)2.56168366
39Thyroiditis (HP:0100646)2.51110877
40Congenital sensorineural hearing impairment (HP:0008527)2.50813514
41Tetany (HP:0001281)2.50794290
42Joint swelling (HP:0001386)2.49431851
43Keratoconjunctivitis sicca (HP:0001097)2.49358130
44Encephalitis (HP:0002383)2.44496061
45Eosinophilia (HP:0001880)2.43131685
46Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.41631275
47Stomach cancer (HP:0012126)2.38585244
48Vacuolated lymphocytes (HP:0001922)2.37979348
49Hemoptysis (HP:0002105)2.37450237
50Spastic paraparesis (HP:0002313)2.36049260
51Abnormality of macular pigmentation (HP:0008002)2.35376731
52Recurrent fungal infections (HP:0002841)2.32577365
53Mediastinal lymphadenopathy (HP:0100721)2.32142895
54Adactyly (HP:0009776)2.31449045
55Hypomagnesemia (HP:0002917)2.28038551
56IgM deficiency (HP:0002850)2.27481291
57Renal cortical cysts (HP:0000803)2.26684765
58Fibular aplasia (HP:0002990)2.25077661
59Abnormality of macrophages (HP:0004311)2.24868534
60Recurrent abscess formation (HP:0002722)2.24836811
61Recurrent bacterial skin infections (HP:0005406)2.24009555
62Panhypogammaglobulinemia (HP:0003139)2.23763346
63Congenital, generalized hypertrichosis (HP:0004540)2.21638079
64Prostate neoplasm (HP:0100787)2.21458974
65Leukocytosis (HP:0001974)2.19279488
66Aplasia/Hypoplasia of the macula (HP:0008059)2.17456374
67Granulocytopenia (HP:0001913)2.13624884
68Abnormality of the fovea (HP:0000493)2.13057393
69Abnormality of magnesium homeostasis (HP:0004921)2.11582735
70Recurrent skin infections (HP:0001581)2.07240123
71Sparse eyelashes (HP:0000653)2.04686732
72Aplasia/Hypoplasia affecting the retina (HP:0008061)2.04581306
73Recurrent cutaneous fungal infections (HP:0011370)2.02715493
74Chronic mucocutaneous candidiasis (HP:0002728)2.02715493
75Recurrent viral infections (HP:0004429)2.00342039
76Abnormality of the renal cortex (HP:0011035)1.99376852
77Abolished electroretinogram (ERG) (HP:0000550)1.99241558
78Eczematoid dermatitis (HP:0000976)1.98202833
79Decreased electroretinogram (ERG) amplitude (HP:0000654)1.97647899
80Abnormal drinking behavior (HP:0030082)1.95503815
81Polydipsia (HP:0001959)1.95503815
82Albinism (HP:0001022)1.94868513
83Chronic obstructive pulmonary disease (HP:0006510)1.94352913
84Obstructive lung disease (HP:0006536)1.94352913
85Inflammation of the large intestine (HP:0002037)1.93802624
863-Methylglutaconic aciduria (HP:0003535)1.92480133
87Alkalosis (HP:0001948)1.91022202
88Anorexia (HP:0002039)1.89760963
89Pulmonary fibrosis (HP:0002206)1.89104600
90Abnormality of the alveolar ridges (HP:0006477)1.88697702
91Abnormality of the pleura (HP:0002103)1.85639299
92Arterial thrombosis (HP:0004420)1.85184264
93Visual hallucinations (HP:0002367)1.84526388
94Hypoplasia of the thymus (HP:0000778)1.82767249
95Attenuation of retinal blood vessels (HP:0007843)1.81818498
96Lymphopenia (HP:0001888)1.81395964
97Autoimmune thrombocytopenia (HP:0001973)1.81227902
98Abnormality of transition element cation homeostasis (HP:0011030)1.80642294
99Increased serum ferritin (HP:0003281)1.80379728
100Polyneuropathy (HP:0001271)1.80183670

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK6.20987521
2MAP4K14.14690202
3WNK43.98420950
4TAOK33.21010960
5TLK13.20850031
6STK393.06476822
7KDR2.56056469
8IKBKE2.13251856
9GRK62.10527234
10BCKDK2.05571414
11MAPKAPK32.04162659
12TESK21.94643461
13MAP3K141.92836131
14MAP2K21.88629887
15TIE11.85307611
16ADRBK21.78877299
17ZAP701.78814801
18IKBKB1.73122335
19FES1.72384808
20ITK1.68653585
21SCYL21.66955735
22SYK1.63555205
23MAP2K61.60652954
24TBK11.58865830
25ZAK1.43879163
26JAK31.36633174
27PRKCQ1.32591945
28PINK11.31573303
29TEC1.30817831
30BTK1.26570098
31MAP4K21.23982712
32MAPK111.18370128
33CSK1.17028118
34GRK11.13735780
35LCK1.11813400
36RIPK41.10980555
37MARK31.10564828
38KIT1.10046470
39BRSK11.09882642
40TRPM71.04641382
41LYN1.04510542
42CSF1R1.04508468
43MST41.04474372
44WNK11.03447528
45GRK70.87104362
46NME10.85343984
47IRAK40.78554150
48PIM10.75390435
49CHUK0.75070574
50ACVR1B0.74531992
51MAP3K110.69910093
52RPS6KA50.66446692
53HCK0.65631915
54DAPK20.65570466
55JAK10.64140453
56BLK0.60674389
57CSNK1G30.59837230
58TGFBR20.55828311
59MUSK0.54753034
60INSRR0.54499727
61STK38L0.53011771
62MAP3K120.52323758
63CSNK1G20.51062620
64TNK20.50824454
65STK100.50441921
66NUAK10.49708366
67ADRBK10.48880779
68MAPK70.47901207
69MYLK0.46265718
70GRK50.45640484
71DAPK10.45293154
72* IGF1R0.45208437
73CSNK1A1L0.44167210
74PHKG20.43750080
75PHKG10.43750080
76MAPKAPK20.41077753
77TESK10.40998056
78BMPR20.39052115
79TYK20.39038810
80PRKAA20.37912589
81CSNK1G10.37448935
82EPHA20.35679380
83PTK2B0.35371880
84OBSCN0.34922009
85MAP3K10.34418955
86ABL10.34122081
87FRK0.33832429
88JAK20.32875185
89MATK0.32115628
90RPS6KA10.32040190
91RPS6KA40.31143950
92INSR0.30848247
93PIK3CG0.30617967
94FYN0.30569590
95MAPK30.28918960
96CDC42BPA0.28804308
97ABL20.28445985
98PKN10.26201889
99PRKCA0.25559851
100PIK3CA0.25534959

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.08958693
2* Graft-versus-host disease_Homo sapiens_hsa053323.73347552
3* Allograft rejection_Homo sapiens_hsa053303.70247885
4* Autoimmune thyroid disease_Homo sapiens_hsa053203.61744139
5Intestinal immune network for IgA production_Homo sapiens_hsa046723.05358730
6Asthma_Homo sapiens_hsa053102.82568982
7* Antigen processing and presentation_Homo sapiens_hsa046122.81009692
8* Type I diabetes mellitus_Homo sapiens_hsa049402.80560443
9Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.64073381
10Hematopoietic cell lineage_Homo sapiens_hsa046402.50461907
11Rheumatoid arthritis_Homo sapiens_hsa053232.37739810
12* Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.17825282
13NF-kappa B signaling pathway_Homo sapiens_hsa040642.13924522
14Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.12083019
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.04456170
16T cell receptor signaling pathway_Homo sapiens_hsa046602.01968715
17Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.94894903
18Linoleic acid metabolism_Homo sapiens_hsa005911.91746218
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.83225743
20Staphylococcus aureus infection_Homo sapiens_hsa051501.74068123
21* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.71390803
22Leishmaniasis_Homo sapiens_hsa051401.58915398
23Nitrogen metabolism_Homo sapiens_hsa009101.57293939
24* Viral myocarditis_Homo sapiens_hsa054161.56739740
25Arachidonic acid metabolism_Homo sapiens_hsa005901.40462917
26Measles_Homo sapiens_hsa051621.39391568
27RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.34488349
28Jak-STAT signaling pathway_Homo sapiens_hsa046301.30191936
29NOD-like receptor signaling pathway_Homo sapiens_hsa046211.29826135
30Osteoclast differentiation_Homo sapiens_hsa043801.26454509
31Malaria_Homo sapiens_hsa051441.25585034
32Toll-like receptor signaling pathway_Homo sapiens_hsa046201.18539095
33TNF signaling pathway_Homo sapiens_hsa046681.13590411
34Proteasome_Homo sapiens_hsa030501.10597828
35Phototransduction_Homo sapiens_hsa047440.96899976
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95403156
37* Herpes simplex infection_Homo sapiens_hsa051680.94656697
38Oxidative phosphorylation_Homo sapiens_hsa001900.94251716
39Steroid hormone biosynthesis_Homo sapiens_hsa001400.89757069
40Ribosome_Homo sapiens_hsa030100.89100791
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.88673638
42SNARE interactions in vesicular transport_Homo sapiens_hsa041300.85729356
43Cyanoamino acid metabolism_Homo sapiens_hsa004600.85457469
44Ether lipid metabolism_Homo sapiens_hsa005650.82532264
45Legionellosis_Homo sapiens_hsa051340.81545295
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.81293977
47Influenza A_Homo sapiens_hsa051640.81115766
48Toxoplasmosis_Homo sapiens_hsa051450.77425110
49B cell receptor signaling pathway_Homo sapiens_hsa046620.75498323
50Apoptosis_Homo sapiens_hsa042100.73859116
51Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73554490
52Systemic lupus erythematosus_Homo sapiens_hsa053220.72574006
53Sulfur metabolism_Homo sapiens_hsa009200.71119234
54Caffeine metabolism_Homo sapiens_hsa002320.70954626
55Tuberculosis_Homo sapiens_hsa051520.68168449
56Salmonella infection_Homo sapiens_hsa051320.67029958
57Sulfur relay system_Homo sapiens_hsa041220.66172574
58Lysosome_Homo sapiens_hsa041420.65592841
59Chemokine signaling pathway_Homo sapiens_hsa040620.63107481
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.62533499
61Vitamin digestion and absorption_Homo sapiens_hsa049770.61448308
62Mineral absorption_Homo sapiens_hsa049780.59930779
63Leukocyte transendothelial migration_Homo sapiens_hsa046700.59877744
64Pertussis_Homo sapiens_hsa051330.58889682
65African trypanosomiasis_Homo sapiens_hsa051430.56933707
66Chemical carcinogenesis_Homo sapiens_hsa052040.56110328
67Ovarian steroidogenesis_Homo sapiens_hsa049130.55662859
68Tyrosine metabolism_Homo sapiens_hsa003500.55533907
69Collecting duct acid secretion_Homo sapiens_hsa049660.54669951
70Parkinsons disease_Homo sapiens_hsa050120.52720703
71Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52148300
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.51155263
73Retinol metabolism_Homo sapiens_hsa008300.47203384
74Shigellosis_Homo sapiens_hsa051310.46910172
75Primary bile acid biosynthesis_Homo sapiens_hsa001200.46216905
76* Phagosome_Homo sapiens_hsa041450.46160632
77Fat digestion and absorption_Homo sapiens_hsa049750.44131823
78Alzheimers disease_Homo sapiens_hsa050100.42472490
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.41387433
80Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40789777
81Adipocytokine signaling pathway_Homo sapiens_hsa049200.38200808
82Prolactin signaling pathway_Homo sapiens_hsa049170.37681518
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.37404600
84Tryptophan metabolism_Homo sapiens_hsa003800.36713129
85Hepatitis C_Homo sapiens_hsa051600.36680118
86Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35276914
87Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.34466984
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32738777
89Glycerolipid metabolism_Homo sapiens_hsa005610.32303109
90Circadian rhythm_Homo sapiens_hsa047100.28695746
91RNA polymerase_Homo sapiens_hsa030200.27355060
92Other glycan degradation_Homo sapiens_hsa005110.26052491
93ABC transporters_Homo sapiens_hsa020100.24904328
94Drug metabolism - other enzymes_Homo sapiens_hsa009830.24764288
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.24128101
96Transcriptional misregulation in cancer_Homo sapiens_hsa052020.23086747
97Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.21827612
98* HTLV-I infection_Homo sapiens_hsa051660.21430227
99* Epstein-Barr virus infection_Homo sapiens_hsa051690.17363130
100Starch and sucrose metabolism_Homo sapiens_hsa005000.16795823

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