CSTA

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





Description: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of skin barrier (GO:0061436)8.01477384
2desmosome organization (GO:0002934)7.90280151
3regulation of water loss via skin (GO:0033561)7.05427882
4* keratinocyte differentiation (GO:0030216)6.60209276
5detection of bacterium (GO:0016045)5.80929474
6* peptide cross-linking (GO:0018149)5.79609157
7detection of other organism (GO:0098543)5.74404275
8keratinocyte proliferation (GO:0043616)5.46077689
9* epidermal cell differentiation (GO:0009913)5.15594769
10regulation of hypersensitivity (GO:0002883)4.98438740
11neutrophil activation involved in immune response (GO:0002283)4.97149178
12multicellular organismal water homeostasis (GO:0050891)4.46013178
13response to peptidoglycan (GO:0032494)4.39691054
14detection of external biotic stimulus (GO:0098581)4.37879277
15positive regulation of monocyte chemotaxis (GO:0090026)4.35463638
16hemidesmosome assembly (GO:0031581)4.34723496
17keratinocyte development (GO:0003334)4.23643126
18epidermis development (GO:0008544)4.10672084
19hair cycle (GO:0042633)3.99696664
20molting cycle (GO:0042303)3.99696664
21bundle of His cell to Purkinje myocyte communication (GO:0086069)3.94837554
22detection of biotic stimulus (GO:0009595)3.88975432
23lipoxygenase pathway (GO:0019372)3.82438420
24water homeostasis (GO:0030104)3.74054207
25negative regulation of T cell mediated immunity (GO:0002710)3.69261592
26macrophage activation involved in immune response (GO:0002281)3.67835105
27immunoglobulin mediated immune response (GO:0016064)3.65719072
28leukocyte aggregation (GO:0070486)3.62428771
29positive regulation of mast cell activation involved in immune response (GO:0033008)3.52711988
30positive regulation of mast cell degranulation (GO:0043306)3.52711988
31positive regulation by symbiont of host defense response (GO:0052509)3.52667983
32modulation by symbiont of host defense response (GO:0052031)3.52667983
33modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.52667983
34modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.52667983
35positive regulation by organism of defense response of other organism involved in symbiotic interact3.52667983
36modulation by symbiont of host immune response (GO:0052553)3.52667983
37epithelial cell differentiation involved in prostate gland development (GO:0060742)3.44885641
38regulation of acute inflammatory response to antigenic stimulus (GO:0002864)3.42846387
39regulation of monocyte chemotaxis (GO:0090025)3.38515901
40negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.37348228
41negative regulation of interferon-gamma production (GO:0032689)3.37144207
42positive regulation of mast cell activation (GO:0033005)3.31858902
43G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.28689189
44gap junction assembly (GO:0016264)3.28076103
45negative regulation of interleukin-17 production (GO:0032700)3.23420431
46positive regulation of cellular amide metabolic process (GO:0034250)3.22122058
47interferon-gamma-mediated signaling pathway (GO:0060333)3.21870413
48chronic inflammatory response (GO:0002544)3.20549032
49detection of molecule of bacterial origin (GO:0032490)3.19612902
50response to muramyl dipeptide (GO:0032495)3.17290277
51negative regulation of interleukin-12 production (GO:0032695)3.12651982
52regulation of mast cell degranulation (GO:0043304)3.12398484
53positive regulation of antigen processing and presentation (GO:0002579)3.03415273
54microglial cell activation (GO:0001774)3.02373660
55neutrophil activation (GO:0042119)3.02238103
56positive regulation of gamma-delta T cell activation (GO:0046645)3.01226118
57positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.01104318
58cellular extravasation (GO:0045123)2.99497614
59positive regulation of leukocyte degranulation (GO:0043302)2.99344960
60myeloid cell activation involved in immune response (GO:0002275)2.97769309
61granulocyte activation (GO:0036230)2.96971142
62lipopolysaccharide-mediated signaling pathway (GO:0031663)2.96832572
63defense response to fungus (GO:0050832)2.96629533
64positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.95909683
65positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.94485425
66T-helper 1 type immune response (GO:0042088)2.92232298
67regulation of mast cell activation involved in immune response (GO:0033006)2.90091946
68positive regulation of interleukin-1 beta production (GO:0032731)2.89823838
69regulation of interleukin-17 production (GO:0032660)2.88874278
70regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.88730922
71leukocyte migration involved in inflammatory response (GO:0002523)2.84506130
72regulation of interferon-beta biosynthetic process (GO:0045357)2.83438586
73intermediate filament organization (GO:0045109)2.82503745
74response to fungus (GO:0009620)2.81037348
75regulation of antigen processing and presentation (GO:0002577)2.79218735
76regulation of inflammatory response to antigenic stimulus (GO:0002861)2.78842914
77positive regulation of interleukin-1 production (GO:0032732)2.77593078
78antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.76796368
79regulation of leukocyte degranulation (GO:0043300)2.76530768
80regulation of myeloid leukocyte mediated immunity (GO:0002886)2.74198191
81macrophage activation (GO:0042116)2.74093060
82neutrophil mediated immunity (GO:0002446)2.73315227
83cellular response to interferon-gamma (GO:0071346)2.69713027
84B cell mediated immunity (GO:0019724)2.68336180
85positive regulation of type 2 immune response (GO:0002830)2.68047874
86positive regulation of chemokine secretion (GO:0090197)2.67798581
87regulation of natural killer cell differentiation (GO:0032823)2.64780806
88skeletal muscle tissue regeneration (GO:0043403)2.64154156
89positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.63715764
90antigen processing and presentation of endogenous antigen (GO:0019883)2.63172158
91positive regulation of interleukin-1 beta secretion (GO:0050718)2.62472695
92regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.61573924
93regulation of dendritic cell antigen processing and presentation (GO:0002604)2.61391021
94regulation of mast cell activation (GO:0033003)2.60382980
95negative regulation of interleukin-8 production (GO:0032717)2.59578546
96negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.59193984
97positive regulation of Cdc42 GTPase activity (GO:0043089)2.58929716
98cellular response to type I interferon (GO:0071357)2.56534107
99type I interferon signaling pathway (GO:0060337)2.56534107
100keratinization (GO:0031424)10.8702611

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.30213993
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.86252746
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.42170385
4IRF8_21731497_ChIP-ChIP_J774_Mouse3.26734918
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.20547436
6* P63_26484246_Chip-Seq_KERATINOCYTES_Human2.96698791
7SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.71418868
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.57078879
9IRF8_27001747_Chip-Seq_BMDM_Mouse2.41668746
10MYB_21317192_ChIP-Seq_ERMYB_Mouse2.27435946
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.19686620
12RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.17612193
13SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.11712174
14SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.11712174
15MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.11568798
16NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.05597386
17VDR_24763502_ChIP-Seq_THP-1_Human2.01425984
18TP63_17297297_ChIP-ChIP_HaCaT_Human11.1704104
19VDR_21846776_ChIP-Seq_THP-1_Human1.89836572
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.83448487
21NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.74494839
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.74453596
23SPI1_23547873_ChIP-Seq_NB4_Human1.70960583
24STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.69916134
25STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.68952117
26FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.65143917
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.64873885
28BRD4_27068464_Chip-Seq_AML-cells_Mouse1.63052179
29IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.62084240
30RARG_19884340_ChIP-ChIP_MEFs_Mouse1.61876693
31KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.58023482
32SCL_19346495_ChIP-Seq_HPC-7_Human1.46618333
33RUNX1_22412390_ChIP-Seq_EML_Mouse1.41814763
34EGR1_19032775_ChIP-ChIP_M12_Human1.41615432
35KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.38142409
36STAT6_21828071_ChIP-Seq_BEAS2B_Human1.38132620
37STAT4_19710469_ChIP-ChIP_TH1__Mouse1.36783437
38SOX9_24532713_ChIP-Seq_HFSC_Mouse1.34903039
39STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.34052165
40VDR_24787735_ChIP-Seq_THP-1_Human1.33920737
41* TP63_23658742_ChIP-Seq_EP156T_Human1.29829269
42CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22786974
43ESR1_21235772_ChIP-Seq_MCF-7_Human1.22448349
44MYB_26560356_Chip-Seq_TH2_Human1.21526140
45* MAF_26560356_Chip-Seq_TH1_Human1.20513438
46SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.20374559
47FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.19156200
48SOX2_20726797_ChIP-Seq_SW620_Human1.17992824
49* TP63_22573176_ChIP-Seq_HFKS_Human1.17605952
50SPI1_23127762_ChIP-Seq_K562_Human1.16672286
51ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.16519895
52SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.14851741
53ELK3_25401928_ChIP-Seq_HUVEC_Human1.14172402
54PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.13056046
55RACK7_27058665_Chip-Seq_MCF-7_Human1.09984975
56CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.09180803
57PU_27001747_Chip-Seq_BMDM_Mouse1.08899680
58RUNX_20019798_ChIP-Seq_JUKART_Human1.07747771
59BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.07584811
60VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07377836
61* ATF3_27146783_Chip-Seq_COLON_Human1.05847372
62FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.04389616
63FOXO3_23340844_ChIP-Seq_DLD1_Human1.03076838
64RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.02433878
65ESR1_20079471_ChIP-ChIP_T-47D_Human1.01426431
66TCF7_22412390_ChIP-Seq_EML_Mouse0.99727847
67CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99603484
68* MYB_26560356_Chip-Seq_TH1_Human0.99072753
69GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.97753360
70TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97583287
71RUNX1_27514584_Chip-Seq_MCF-7_Human0.97553473
72KDM2B_26808549_Chip-Seq_SUP-B15_Human0.96531943
73LXR_22292898_ChIP-Seq_THP-1_Human0.96413977
74SOX2_27498859_Chip-Seq_STOMACH_Mouse0.96019790
75KLF5_25053715_ChIP-Seq_YYC3_Human0.94300493
76E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.92148148
77PPARA_22158963_ChIP-Seq_LIVER_Mouse0.91973346
78BCOR_27268052_Chip-Seq_Bcells_Human0.91107234
79GATA1_22025678_ChIP-Seq_K562_Human0.90157147
80EGR1_19374776_ChIP-ChIP_THP-1_Human0.88547596
81GATA2_22383799_ChIP-Seq_G1ME_Mouse0.87248867
82TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86749961
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.84889238
84KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.84616149
85VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.84582533
86PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83587589
87UBF1/2_26484160_Chip-Seq_HMECs_Human0.83187943
88CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82698848
89SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.82420959
90PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82324894
91GATA2_21666600_ChIP-Seq_HMVEC_Human0.82137344
92SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.81778816
93* UTX_26944678_Chip-Seq_JUKART_Human0.80988386
94P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.79913581
95UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.79158942
96GATA3_24758297_ChIP-Seq_MCF-7_Human0.77368649
97CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.77124983
98* GATA3_26560356_Chip-Seq_TH2_Human0.76326001
99JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.76097986
100KDM2B_26808549_Chip-Seq_DND41_Human0.75696919

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier6.38857431
2MP0010234_abnormal_vibrissa_follicle6.03660016
3MP0000579_abnormal_nail_morphology3.67665266
4MP0005275_abnormal_skin_tensile3.55188240
5MP0005501_abnormal_skin_physiology3.50101101
6MP0003453_abnormal_keratinocyte_physiol3.15721429
7MP0001216_abnormal_epidermal_layer2.69600673
8MP0003724_increased_susceptibility_to2.62907674
9MP0010678_abnormal_skin_adnexa2.56321625
10MP0004947_skin_inflammation2.35824726
11MP0004381_abnormal_hair_follicle2.34237300
12MP0003436_decreased_susceptibility_to2.32223937
13MP0001835_abnormal_antigen_presentation2.29247748
14MP0003191_abnormal_cellular_cholesterol2.16939075
15MP0003303_peritoneal_inflammation2.06766651
16MP0002148_abnormal_hypersensitivity_rea2.05144349
17MP0009785_altered_susceptibility_to2.05123717
18MP0000467_abnormal_esophagus_morphology2.04818682
19MP0000465_gastrointestinal_hemorrhage1.96043913
20MP0002060_abnormal_skin_morphology1.94949734
21MP0002419_abnormal_innate_immunity1.90161674
22MP0006082_CNS_inflammation1.88975445
23MP0010771_integument_phenotype1.88863821
24MP0005025_abnormal_response_to1.86316067
25MP0000383_abnormal_hair_follicle1.84185402
26MP0000685_abnormal_immune_system1.79642742
27MP0001851_eye_inflammation1.76818106
28MP0002098_abnormal_vibrissa_morphology1.71272707
29MP0001800_abnormal_humoral_immune1.65373375
30MP0005671_abnormal_response_to1.64757347
31MP0001853_heart_inflammation1.60363840
32MP0005387_immune_system_phenotype1.59736734
33MP0001790_abnormal_immune_system1.59736734
34MP0003806_abnormal_nucleotide_metabolis1.59672469
35MP0005000_abnormal_immune_tolerance1.58331991
36MP0000377_abnormal_hair_follicle1.55207091
37MP0004043_abnormal_pH_regulation1.54000965
38MP0002095_abnormal_skin_pigmentation1.53073470
39MP0002452_abnormal_antigen_presenting1.52415114
40MP0003941_abnormal_skin_development1.46222868
41MP0002723_abnormal_immune_serum1.43410582
42MP0003828_pulmonary_edema1.41949669
43MP0004264_abnormal_extraembryonic_tissu1.40520493
44MP0009379_abnormal_foot_pigmentation1.40005805
45MP0000858_altered_metastatic_potential1.38800742
46MP0003566_abnormal_cell_adhesion1.37645235
47MP0000762_abnormal_tongue_morphology1.35867256
48MP0009931_abnormal_skin_appearance1.35230292
49MP0001533_abnormal_skeleton_physiology1.32770993
50MP0001819_abnormal_immune_cell1.32042744
51MP0002420_abnormal_adaptive_immunity1.32019676
52MP0005409_darkened_coat_color1.23418219
53MP0002877_abnormal_melanocyte_morpholog1.23030139
54MP0000566_synostosis1.21768856
55MP0000427_abnormal_hair_cycle1.20268124
56MP0005058_abnormal_lysosome_morphology1.17888638
57MP0010155_abnormal_intestine_physiology1.17315565
58MP0003705_abnormal_hypodermis_morpholog1.16968244
59MP0003763_abnormal_thymus_physiology1.16039002
60MP0003075_altered_response_to1.15237939
61MP0003300_gastrointestinal_ulcer1.12759878
62MP0009764_decreased_sensitivity_to1.10788760
63MP0008260_abnormal_autophagy1.09721992
64MP0000367_abnormal_coat/_hair1.09245072
65MP0001191_abnormal_skin_condition1.07628801
66MP0002166_altered_tumor_susceptibility1.07547618
67MP0004782_abnormal_surfactant_physiolog1.05698519
68MP0009333_abnormal_splenocyte_physiolog1.04827602
69MP0001845_abnormal_inflammatory_respons1.04190892
70MP0005464_abnormal_platelet_physiology1.03616662
71MP0005377_hearing/vestibular/ear_phenot1.02182396
72MP0003878_abnormal_ear_physiology1.02182396
73MP0002009_preneoplasia0.97764697
74MP0005023_abnormal_wound_healing0.96836139
75MP0004185_abnormal_adipocyte_glucose0.93355542
76MP0002405_respiratory_system_inflammati0.92525968
77MP0002006_tumorigenesis0.88878731
78MP0004883_abnormal_blood_vessel0.88704524
79MP0009053_abnormal_anal_canal0.88620510
80MP0005166_decreased_susceptibility_to0.87045128
81MP0002998_abnormal_bone_remodeling0.85944880
82MP0008469_abnormal_protein_level0.84065813
83MP0000716_abnormal_immune_system0.83769382
84MP0004510_myositis0.83266054
85MP0005164_abnormal_response_to0.79346778
86MP0000371_diluted_coat_color0.77731071
87MP0001873_stomach_inflammation0.77279577
88MP0001243_abnormal_dermal_layer0.75143209
89MP0003448_altered_tumor_morphology0.75104946
90MP0005397_hematopoietic_system_phenotyp0.75091983
91MP0001545_abnormal_hematopoietic_system0.75091983
92MP0001542_abnormal_bone_strength0.75048855
93MP0004885_abnormal_endolymph0.71256296
94MP0002398_abnormal_bone_marrow0.69853604
95MP0005075_abnormal_melanosome_morpholog0.69831448
96MP0003172_abnormal_lysosome_physiology0.68173350
97MP0002277_abnormal_respiratory_mucosa0.66992112
98MP0008004_abnormal_stomach_pH0.65880340
99MP0003638_abnormal_response/metabolism_0.62067313
100MP0000343_altered_response_to0.61645194

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of nail color (HP:0100643)7.69813325
2Oral leukoplakia (HP:0002745)6.74282743
3Increased IgE level (HP:0003212)6.46267977
4Palmoplantar hyperkeratosis (HP:0000972)6.40088500
5Palmar hyperkeratosis (HP:0010765)6.05213120
6Thick nail (HP:0001805)5.87716225
7Plantar hyperkeratosis (HP:0007556)5.78027843
8Alopecia of scalp (HP:0002293)5.48821311
9Erythroderma (HP:0001019)5.40511141
10Abnormality of secondary sexual hair (HP:0009888)5.16058596
11Abnormality of the axillary hair (HP:0100134)5.16058596
12Fragile nails (HP:0001808)4.87325201
13Congenital ichthyosiform erythroderma (HP:0007431)4.77744053
14Hypotrichosis (HP:0001006)4.55068261
15Onycholysis (HP:0001806)4.47597596
16Congenital nonbullous ichthyosiform erythroderma (HP:0007479)4.45732592
17Erythema (HP:0010783)4.16808192
18Eczematoid dermatitis (HP:0000976)4.07736038
19Lip pit (HP:0100267)4.01548411
20Recurrent bacterial skin infections (HP:0005406)3.96292571
21Nail dystrophy (HP:0008404)3.78520363
22Parakeratosis (HP:0001036)3.68534705
23Corneal erosion (HP:0200020)3.68475255
24Gangrene (HP:0100758)3.57784596
25Woolly hair (HP:0002224)3.52239751
26Milia (HP:0001056)3.49965813
27Right ventricular cardiomyopathy (HP:0011663)3.45739654
28Sparse scalp hair (HP:0002209)3.38949455
29Urticaria (HP:0001025)3.32116689
30Pustule (HP:0200039)3.24523979
31Abnormal blistering of the skin (HP:0008066)3.16755915
32Abnormality of the salivary glands (HP:0010286)3.07038913
33Palmoplantar keratoderma (HP:0000982)2.93005106
34Sparse eyelashes (HP:0000653)2.86205315
35Selective tooth agenesis (HP:0001592)2.77204869
36Recurrent abscess formation (HP:0002722)2.74634942
37Ridged nail (HP:0001807)2.74017672
38Xerostomia (HP:0000217)2.73624712
39Recurrent skin infections (HP:0001581)2.72215937
40Ectropion (HP:0000656)2.71183610
41Absent eyelashes (HP:0000561)2.68688097
42Abnormality of macrophages (HP:0004311)2.57891399
43Keratoconjunctivitis sicca (HP:0001097)2.57847408
44Abnormal hair laboratory examination (HP:0003328)2.54490979
45Hypergammaglobulinemia (HP:0010702)2.54210925
46Hypohidrosis (HP:0000966)2.53345510
47Dry hair (HP:0011359)2.50779602
48Skin ulcer (HP:0200042)2.50755802
49Abnormality of liposaccharide metabolism (HP:0010968)2.39834850
50Abnormality of glycosphingolipid metabolism (HP:0004343)2.39834850
51Abnormality of glycolipid metabolism (HP:0010969)2.39834850
52Malnutrition (HP:0004395)2.39034941
53Abnormality of placental membranes (HP:0011409)2.33111654
54Amniotic constriction ring (HP:0009775)2.33111654
55Pili torti (HP:0003777)2.33078298
56Myositis (HP:0100614)2.32923624
57Keratoconjunctivitis (HP:0001096)2.31474988
58Pruritus (HP:0000989)2.30588249
59Elevated erythrocyte sedimentation rate (HP:0003565)2.29419712
60Premature loss of primary teeth (HP:0006323)2.21701218
61Amyloidosis (HP:0011034)2.21566388
62Absent hair (HP:0002298)2.18781656
63Blepharitis (HP:0000498)2.14632263
64Hypoplastic labia majora (HP:0000059)2.13094353
65Multifactorial inheritance (HP:0001426)2.12539885
66Hyperhidrosis (HP:0000975)2.09874410
67Orchitis (HP:0100796)2.08169000
68Oligodontia (HP:0000677)2.03940949
69Stomatitis (HP:0010280)2.00732667
70Cheilitis (HP:0100825)1.97735941
71Recurrent gram-negative bacterial infections (HP:0005420)1.95666404
72Optic neuritis (HP:0100653)1.94239812
73Retrobulbar optic neuritis (HP:0100654)1.94239812
74Mediastinal lymphadenopathy (HP:0100721)1.93491877
75Hypoplasia of dental enamel (HP:0006297)1.92203447
76Abnormality of the labia majora (HP:0012881)1.91137558
77Skin rash (HP:0000988)1.89322386
78Distal lower limb muscle weakness (HP:0009053)1.86904711
79Increased cerebral lipofuscin (HP:0011813)1.86498566
80Conjunctival hamartoma (HP:0100780)1.85848475
81Nasolacrimal duct obstruction (HP:0000579)1.85782910
82Chronic obstructive pulmonary disease (HP:0006510)1.85553372
83Obstructive lung disease (HP:0006536)1.85553372
84Popliteal pterygium (HP:0009756)1.84785465
85Abnormality of permanent molar morphology (HP:0011071)1.81796546
86Abnormality of the dental root (HP:0006486)1.81796546
87Taurodontia (HP:0000679)1.81796546
88Sepsis (HP:0100806)1.81488170
89Acanthosis nigricans (HP:0000956)1.79037658
90Gingivitis (HP:0000230)1.75013822
91Polygenic inheritance (HP:0010982)1.74126172
92Basal ganglia calcification (HP:0002135)1.71776004
93Short middle phalanx of the 5th finger (HP:0004220)1.71735432
94Dehydration (HP:0001944)1.71433258
95Recurrent fungal infections (HP:0002841)1.69709471
96Abnormality of molar (HP:0011077)1.68006807
97Abnormality of molar morphology (HP:0011070)1.68006807
98Corneal dystrophy (HP:0001131)1.66991744
99Abnormality of hair growth rate (HP:0011363)1.65542628
100Slow-growing hair (HP:0002217)1.65542628

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK244.29804196
2BLK3.00926164
3MAP3K32.95899120
4RIPK42.77648792
5MAP3K62.46271197
6TGFBR12.46023999
7MAPKAPK32.45810189
8MAP3K22.42765234
9TYK22.17457822
10GRK62.14767124
11BMPR22.14060644
12EPHA22.11708828
13MAP3K142.03252289
14IKBKB1.98715272
15IRAK41.96088690
16GRK71.94254332
17TBK11.87566062
18CSK1.85525380
19ERN11.81525095
20RIPK11.72973928
21MAP3K131.66560223
22IRAK31.66243824
23MAPK71.63928178
24IKBKE1.59770553
25KIT1.55302005
26TRPM71.55170868
27JAK31.54980580
28TGFBR21.53811073
29ZAP701.48167750
30MOS1.47879767
31FGR1.45930960
32MST1R1.44617078
33PIK3CG1.39732036
34MAP2K31.39063438
35PRPF4B1.35962574
36TAOK11.35474507
37MAP4K11.29343083
38NME21.22685992
39MAP3K121.22244600
40FES1.18093423
41CSF1R1.08749434
42MATK1.08593311
43MAP3K11.06685640
44JAK11.05992226
45FER1.05710305
46SYK1.04998997
47MAPK121.04716102
48BTK1.03775526
49HCK1.02357194
50RPS6KB21.02105864
51ERBB30.97848761
52LYN0.96611079
53CDK190.93694189
54STK100.91595871
55IRAK20.91402291
56ARAF0.90009456
57IRAK10.89517190
58PIM20.88150745
59JAK20.87608552
60FGFR30.87095441
61LRRK20.85605919
62SIK30.84409960
63ABL20.80589944
64MAP2K60.77159572
65TAOK30.75859381
66TNK20.67291772
67TXK0.65415495
68TEC0.65290050
69MAPKAPK20.64856898
70ITK0.63438577
71MARK30.62957325
72MST40.62257444
73MAP3K90.61871605
74LCK0.60775370
75ILK0.59195422
76MAP3K110.59163319
77TAOK20.58052446
78ABL10.57321939
79DMPK0.56999010
80CDK60.56540356
81SIK10.50559511
82CHUK0.50549215
83PRKCD0.47624417
84TRIB30.46379647
85CDC42BPA0.45926259
86RPS6KA40.43061528
87HIPK20.42278806
88PTK60.40233112
89PDPK10.40085388
90EPHB10.39476787
91STK30.37941820
92MARK20.35502884
93IGF1R0.34529819
94RPS6KL10.33991013
95RPS6KC10.33991013
96FLT30.32943987
97MAP3K50.32499203
98MAPK40.30781413
99PRKD20.30616701
100TESK10.30558041

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053103.56009688
2Staphylococcus aureus infection_Homo sapiens_hsa051503.37120724
3Leishmaniasis_Homo sapiens_hsa051402.83579751
4Allograft rejection_Homo sapiens_hsa053302.77912645
5Graft-versus-host disease_Homo sapiens_hsa053322.66879695
6Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.56490819
7Autoimmune thyroid disease_Homo sapiens_hsa053202.50163306
8Tuberculosis_Homo sapiens_hsa051522.27696636
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.24842423
10Osteoclast differentiation_Homo sapiens_hsa043802.12787658
11NOD-like receptor signaling pathway_Homo sapiens_hsa046212.09064880
12Toll-like receptor signaling pathway_Homo sapiens_hsa046202.00118143
13Type I diabetes mellitus_Homo sapiens_hsa049401.98014465
14Rheumatoid arthritis_Homo sapiens_hsa053231.95209571
15Toxoplasmosis_Homo sapiens_hsa051451.81562161
16Influenza A_Homo sapiens_hsa051641.81223794
17Pertussis_Homo sapiens_hsa051331.79765164
18Malaria_Homo sapiens_hsa051441.71478527
19Antigen processing and presentation_Homo sapiens_hsa046121.67289123
20Other glycan degradation_Homo sapiens_hsa005111.55895059
21Legionellosis_Homo sapiens_hsa051341.55870846
22Hematopoietic cell lineage_Homo sapiens_hsa046401.54847220
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.51777646
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.49597550
25NF-kappa B signaling pathway_Homo sapiens_hsa040641.48870868
26Viral myocarditis_Homo sapiens_hsa054161.47967540
27Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.47835400
28Phagosome_Homo sapiens_hsa041451.46695746
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.44005256
30Salmonella infection_Homo sapiens_hsa051321.42474983
31Amoebiasis_Homo sapiens_hsa051461.40087105
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.39027156
33Lysosome_Homo sapiens_hsa041421.32430027
34Herpes simplex infection_Homo sapiens_hsa051681.27735678
35B cell receptor signaling pathway_Homo sapiens_hsa046621.27170573
36alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.24369656
37TNF signaling pathway_Homo sapiens_hsa046681.21407872
38Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.17985357
39Acute myeloid leukemia_Homo sapiens_hsa052211.12664634
40VEGF signaling pathway_Homo sapiens_hsa043701.11298646
41Measles_Homo sapiens_hsa051621.07519226
42Shigellosis_Homo sapiens_hsa051311.07223522
43Sphingolipid metabolism_Homo sapiens_hsa006001.06445444
44Hepatitis C_Homo sapiens_hsa051601.04990919
45Bladder cancer_Homo sapiens_hsa052191.03437915
46African trypanosomiasis_Homo sapiens_hsa051431.02822336
47Arachidonic acid metabolism_Homo sapiens_hsa005901.02021564
48Chemokine signaling pathway_Homo sapiens_hsa040620.98890225
49Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.98663290
50Histidine metabolism_Homo sapiens_hsa003400.95648396
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.93809948
52Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.93094831
53Jak-STAT signaling pathway_Homo sapiens_hsa046300.91093804
54GnRH signaling pathway_Homo sapiens_hsa049120.85600322
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.85596442
56Sphingolipid signaling pathway_Homo sapiens_hsa040710.80685633
57Platelet activation_Homo sapiens_hsa046110.76581793
58Dorso-ventral axis formation_Homo sapiens_hsa043200.75823485
59Ether lipid metabolism_Homo sapiens_hsa005650.74476609
60Linoleic acid metabolism_Homo sapiens_hsa005910.74118557
61Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.73997728
62T cell receptor signaling pathway_Homo sapiens_hsa046600.73096799
63Pancreatic cancer_Homo sapiens_hsa052120.72597930
64Glycosaminoglycan degradation_Homo sapiens_hsa005310.71089883
65Endocytosis_Homo sapiens_hsa041440.68150222
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64219629
67p53 signaling pathway_Homo sapiens_hsa041150.63364221
68Hepatitis B_Homo sapiens_hsa051610.62703728
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61187125
70Primary immunodeficiency_Homo sapiens_hsa053400.60857131
71Apoptosis_Homo sapiens_hsa042100.59943375
72Collecting duct acid secretion_Homo sapiens_hsa049660.58144920
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.58008462
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.57382319
75Notch signaling pathway_Homo sapiens_hsa043300.53463993
76Renal cell carcinoma_Homo sapiens_hsa052110.53025034
77Epstein-Barr virus infection_Homo sapiens_hsa051690.48939665
78AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.46919013
79Choline metabolism in cancer_Homo sapiens_hsa052310.44152522
80Transcriptional misregulation in cancer_Homo sapiens_hsa052020.43222950
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.42502251
82Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.42427956
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42416417
84Systemic lupus erythematosus_Homo sapiens_hsa053220.40821261
85Adipocytokine signaling pathway_Homo sapiens_hsa049200.40439046
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.39906927
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.39673699
88Ribosome_Homo sapiens_hsa030100.38660448
89Phosphatidylinositol signaling system_Homo sapiens_hsa040700.37929379
90Chronic myeloid leukemia_Homo sapiens_hsa052200.37235658
91HTLV-I infection_Homo sapiens_hsa051660.33979498
92Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32823068
93Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.32334060
94Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.31709065
95Prolactin signaling pathway_Homo sapiens_hsa049170.31631215
96Non-small cell lung cancer_Homo sapiens_hsa052230.31144054
97Renin secretion_Homo sapiens_hsa049240.25237857
98HIF-1 signaling pathway_Homo sapiens_hsa040660.23589941
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.20997493
100Circadian rhythm_Homo sapiens_hsa047100.20851239

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