DEFB4A

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: Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1detection of bacterium (GO:0016045)9.77862295
2long-chain fatty acid biosynthetic process (GO:0042759)9.70857744
3desmosome organization (GO:0002934)9.63840380
4detection of other organism (GO:0098543)8.98306515
5epidermis development (GO:0008544)8.92219343
6phosphatidylinositol acyl-chain remodeling (GO:0036149)8.74478709
7phosphatidylserine acyl-chain remodeling (GO:0036150)8.74321531
8multicellular organismal water homeostasis (GO:0050891)8.52777789
9lipoxygenase pathway (GO:0019372)8.46913990
10molting cycle (GO:0042303)7.89040369
11hair cycle (GO:0042633)7.89040369
12regulation of natural killer cell differentiation (GO:0032823)7.66062223
13linoleic acid metabolic process (GO:0043651)7.63441796
14positive regulation of monocyte chemotaxis (GO:0090026)7.33763919
15sequestering of metal ion (GO:0051238)7.33763914
16water homeostasis (GO:0030104)7.08689042
17phosphatidylethanolamine acyl-chain remodeling (GO:0036152)7.05457207
18phosphatidylglycerol acyl-chain remodeling (GO:0036148)6.99943337
19keratinocyte proliferation (GO:0043616)6.79477912
20negative regulation of interferon-gamma production (GO:0032689)6.64811897
21positive regulation of T cell chemotaxis (GO:0010820)6.59343103
22regulation of T cell chemotaxis (GO:0010819)6.59343103
23phosphatidylcholine acyl-chain remodeling (GO:0036151)6.25019247
24skin morphogenesis (GO:0043589)6.20904705
25bundle of His cell to Purkinje myocyte communication (GO:0086069)6.16756081
26negative regulation of interleukin-17 production (GO:0032700)5.92513507
27gap junction assembly (GO:0016264)5.89324157
28regulation of monocyte chemotaxis (GO:0090025)5.41355491
29phosphatidylserine metabolic process (GO:0006658)5.40899836
30detection of external biotic stimulus (GO:0098581)5.35365691
31intermediate filament cytoskeleton organization (GO:0045104)5.10153322
32intermediate filament-based process (GO:0045103)4.94388926
33ectoderm development (GO:0007398)4.70819293
34intermediate filament organization (GO:0045109)4.60163900
35detection of biotic stimulus (GO:0009595)4.59236769
36phospholipid catabolic process (GO:0009395)4.42140625
37alditol phosphate metabolic process (GO:0052646)4.38857339
38ceramide biosynthetic process (GO:0046513)4.29900907
39positive regulation of granulocyte chemotaxis (GO:0071624)4.21147585
40epithelium development (GO:0060429)4.09108670
41regulation of lymphocyte chemotaxis (GO:1901623)4.06316185
42surfactant homeostasis (GO:0043129)3.83235896
43phosphatidylglycerol metabolic process (GO:0046471)3.65392419
44defense response to fungus (GO:0050832)3.60973497
45positive regulation of T cell migration (GO:2000406)3.53919165
46regulation of natural killer cell activation (GO:0032814)3.49834219
47establishment of tissue polarity (GO:0007164)3.46279257
48establishment of planar polarity (GO:0001736)3.46279257
49hemidesmosome assembly (GO:0031581)3.38954403
50regulation of T cell migration (GO:2000404)3.37075567
51regulation of interleukin-17 production (GO:0032660)3.31354066
52epithelial cell differentiation (GO:0030855)3.26869254
53phosphatidic acid metabolic process (GO:0046473)3.23478005
54phosphatidic acid biosynthetic process (GO:0006654)3.23478005
55defense response to Gram-negative bacterium (GO:0050829)3.17430935
56chemical homeostasis within a tissue (GO:0048875)3.14653091
57keratinocyte development (GO:0003334)3.10746649
58positive regulation of epidermis development (GO:0045684)3.08370009
59antimicrobial humoral response (GO:0019730)3.05935265
60keratinization (GO:0031424)26.3695152
61regulation of axon regeneration (GO:0048679)2.89996903
62regulation of neuron projection regeneration (GO:0070570)2.89996903
63regulation of granulocyte chemotaxis (GO:0071622)2.89769344
64positive regulation of lymphocyte migration (GO:2000403)2.88244045
65eyelid development in camera-type eye (GO:0061029)2.83620037
66negative regulation of interleukin-6 production (GO:0032715)2.74753602
67negative regulation of lymphocyte differentiation (GO:0045620)2.74738582
68sphingolipid biosynthetic process (GO:0030148)2.62728895
69response to UV-B (GO:0010224)2.55551126
70planar cell polarity pathway involved in neural tube closure (GO:0090179)2.54839731
71negative regulation of keratinocyte proliferation (GO:0010839)2.53572458
72phosphatidylcholine metabolic process (GO:0046470)2.52135672
73phospholipid efflux (GO:0033700)2.51607493
74positive regulation of epidermal cell differentiation (GO:0045606)2.47316123
75regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.42844706
76response to fungus (GO:0009620)2.41975257
77regulation of lymphocyte migration (GO:2000401)2.41333910
78complement activation (GO:0006956)2.39851676
79unsaturated fatty acid biosynthetic process (GO:0006636)2.39223627
80complement activation, classical pathway (GO:0006958)2.37137417
81ventricular cardiac muscle cell action potential (GO:0086005)2.32247240
82response to phenylpropanoid (GO:0080184)2.30980706
83leukocyte aggregation (GO:0070486)2.28334529
84response to zinc ion (GO:0010043)2.25398758
85hair follicle morphogenesis (GO:0031069)2.24121755
86regulation of epidermis development (GO:0045682)2.22595068
87regulation of interferon-gamma production (GO:0032649)2.22369947
88positive regulation of cholesterol efflux (GO:0010875)2.21869653
89defense response to Gram-positive bacterium (GO:0050830)2.18475202
90regulation of interleukin-6 production (GO:0032675)2.16594611
91regulation of keratinocyte differentiation (GO:0045616)2.13468184
92hair cell differentiation (GO:0035315)2.08290456
93negative regulation of cytokine secretion (GO:0050710)2.07245020
94regulation of heart rate by cardiac conduction (GO:0086091)2.07186806
95ceramide metabolic process (GO:0006672)2.05657965
96keratinocyte differentiation (GO:0030216)15.8219055
97establishment of skin barrier (GO:0061436)15.4164590
98regulation of water loss via skin (GO:0033561)13.2528282
99epidermal cell differentiation (GO:0009913)12.0105614
100peptide cross-linking (GO:0018149)11.3587815

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.74655465
2P63_26484246_Chip-Seq_KERATINOCYTES_Human4.42695761
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.49692471
4SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.24993416
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.24005931
6HIF1A_21447827_ChIP-Seq_MCF-7_Human2.36628533
7GATA6_21074721_ChIP-Seq_CACO-2_Mouse2.26447378
8SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.22518364
9SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.22518364
10ERG_20517297_ChIP-Seq_VCAP_Human2.09041704
11VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.00422080
12TP63_17297297_ChIP-ChIP_HaCaT_Human12.4309630
13DNAJC2_21179169_ChIP-ChIP_NT2_Human1.99824892
14ESR2_21235772_ChIP-Seq_MCF-7_Human1.92392642
15RARG_19884340_ChIP-ChIP_MEFs_Mouse1.90626197
16GATA6_21074721_ChIP-Seq_CACO-2_Human1.90212104
17ZNF263_19887448_ChIP-Seq_K562_Human1.86905270
18ESR1_21235772_ChIP-Seq_MCF-7_Human1.82215756
19EGR1_19032775_ChIP-ChIP_M12_Human1.80760095
20STAT6_21828071_ChIP-Seq_BEAS2B_Human1.78397145
21TP63_22573176_ChIP-Seq_HFKS_Human1.73970628
22TP63_23658742_ChIP-Seq_EP156T_Human1.73444533
23ATF3_27146783_Chip-Seq_COLON_Human1.71881197
24SOX9_24532713_ChIP-Seq_HFSC_Mouse1.68629399
25TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.66000302
26SMC4_20622854_ChIP-Seq_HELA_Human1.62818790
27SOX2_20726797_ChIP-Seq_SW620_Human1.57424388
28KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.55321553
29E2F1_20622854_ChIP-Seq_HELA_Human1.48311246
30CTCF_27219007_Chip-Seq_Bcells_Human1.43616692
31FOXO3_23340844_ChIP-Seq_DLD1_Human1.37827838
32BCOR_27268052_Chip-Seq_Bcells_Human1.35778494
33* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.34618088
34CTCF_20526341_ChIP-Seq_ESCs_Human1.34193390
35RXR_22108803_ChIP-Seq_LS180_Human1.33743718
36STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.30946501
37SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.26683627
38BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.25105453
39LXR_22292898_ChIP-Seq_THP-1_Human1.23574194
40RACK7_27058665_Chip-Seq_MCF-7_Human1.23506413
41KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.21420083
42ESR1_20079471_ChIP-ChIP_T-47D_Human1.19050967
43BCL6_27268052_Chip-Seq_Bcells_Human1.18424609
44SA1_27219007_Chip-Seq_ERYTHROID_Human1.17918794
45ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15791132
46RUNX1_27514584_Chip-Seq_MCF-7_Human1.13501733
47UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.12626776
48ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12170352
49P53_21459846_ChIP-Seq_SAOS-2_Human1.11493367
50P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.08478825
51JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06222460
52KLF5_25053715_ChIP-Seq_YYC3_Human1.04100014
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.03780672
54GATA3_24758297_ChIP-Seq_MCF-7_Human1.03651039
55RBPJ_21746931_ChIP-Seq_IB4_Human1.02232093
56NANOG_20526341_ChIP-Seq_ESCs_Human1.02161518
57UBF1/2_26484160_Chip-Seq_HMECs_Human1.01998673
58ELK3_25401928_ChIP-Seq_HUVEC_Human1.01108717
59FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.99293719
60P300_27268052_Chip-Seq_Bcells_Human0.96898932
61RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.96853957
62PPAR_26484153_Chip-Seq_NCI-H1993_Human0.95512712
63CJUN_26792858_Chip-Seq_BT549_Human0.94341004
64CLOCK_20551151_ChIP-Seq_293T_Human0.93583157
65CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.90866752
66BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.90790897
67P68_20966046_ChIP-Seq_HELA_Human0.90572456
68TAF2_19829295_ChIP-Seq_ESCs_Human0.90275556
69SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.89998142
70ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89551399
71GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.89351400
72TCF4_18268006_ChIP-ChIP_LS174T_Human0.88602163
73RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.87156399
74ERG_21242973_ChIP-ChIP_JURKAT_Human0.86878184
75SOX2_27498859_Chip-Seq_STOMACH_Mouse0.86560910
76GATA2_19941826_ChIP-Seq_K562_Human0.86460258
77JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85190656
78CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.84853855
79GATA6_25053715_ChIP-Seq_YYC3_Human0.84194960
80CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.81740744
81* NCOR_22424771_ChIP-Seq_293T_Human0.80725407
82CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.80025891
83HNFA_21074721_ChIP-Seq_CACO-2_Human0.79699578
84SA1_27219007_Chip-Seq_Bcells_Human0.79534049
85GATA4_25053715_ChIP-Seq_YYC3_Human0.78302897
86HTT_18923047_ChIP-ChIP_STHdh_Human0.77428200
87EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.75708023
88GATA1_19941826_ChIP-Seq_K562_Human0.75429079
89THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.74220775
90CEBPB_22108803_ChIP-Seq_LS180_Human0.73461027
91PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.73350500
92BP1_19119308_ChIP-ChIP_Hs578T_Human0.73060953
93SPI1_20517297_ChIP-Seq_HL60_Human0.72468156
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.72227106
95SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.71976424
96MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.71726817
97FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.68874420
98JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.68535012
99ETV2_25802403_ChIP-Seq_MESCs_Mouse0.67974612
100TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.67152551

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier9.62194189
2MP0005275_abnormal_skin_tensile7.25398043
3MP0010234_abnormal_vibrissa_follicle6.29320029
4MP0000579_abnormal_nail_morphology6.28473046
5MP0005501_abnormal_skin_physiology5.40302206
6MP0004885_abnormal_endolymph3.49066854
7MP0005377_hearing/vestibular/ear_phenot3.35955327
8MP0003878_abnormal_ear_physiology3.35955327
9MP0003453_abnormal_keratinocyte_physiol3.22808919
10MP0001216_abnormal_epidermal_layer3.10910753
11MP0003941_abnormal_skin_development2.92828371
12MP0010771_integument_phenotype2.74184396
13MP0002060_abnormal_skin_morphology2.70132168
14MP0010678_abnormal_skin_adnexa2.63120240
15MP0000467_abnormal_esophagus_morphology2.36622098
16MP0001188_hyperpigmentation2.14940995
17MP0003191_abnormal_cellular_cholesterol2.13871025
18MP0000383_abnormal_hair_follicle2.08951588
19MP0004264_abnormal_extraembryonic_tissu2.05032126
20MP0003705_abnormal_hypodermis_morpholog2.04628443
21MP0004947_skin_inflammation2.04004956
22MP0004381_abnormal_hair_follicle1.94945022
23MP0005409_darkened_coat_color1.93672127
24MP0002098_abnormal_vibrissa_morphology1.92845900
25MP0000377_abnormal_hair_follicle1.92533775
26MP0004782_abnormal_surfactant_physiolog1.80113940
27MP0009931_abnormal_skin_appearance1.66984537
28MP0010352_gastrointestinal_tract_polyps1.66697602
29MP0000762_abnormal_tongue_morphology1.44546444
30MP0000465_gastrointestinal_hemorrhage1.36592524
31MP0003566_abnormal_cell_adhesion1.28380633
32MP0003011_delayed_dark_adaptation1.21582587
33MP0001191_abnormal_skin_condition1.17834692
34MP0000427_abnormal_hair_cycle1.16111873
35MP0008004_abnormal_stomach_pH1.13802019
36MP0000367_abnormal_coat/_hair1.12170774
37MP0000647_abnormal_sebaceous_gland1.09314496
38MP0001851_eye_inflammation1.04459419
39MP0002095_abnormal_skin_pigmentation1.01646363
40MP0004043_abnormal_pH_regulation0.98018187
41MP0000566_synostosis0.96951098
42MP0005023_abnormal_wound_healing0.96782294
43MP0001784_abnormal_fluid_regulation0.80472687
44MP0009053_abnormal_anal_canal0.77642563
45MP0001243_abnormal_dermal_layer0.74741100
46MP0001485_abnormal_pinna_reflex0.68018951
47MP0002138_abnormal_hepatobiliary_system0.67305082
48MP0004185_abnormal_adipocyte_glucose0.59186981
49MP0002234_abnormal_pharynx_morphology0.57931535
50MP0003315_abnormal_perineum_morphology0.54158944
51MP0000685_abnormal_immune_system0.50628714
52MP0009379_abnormal_foot_pigmentation0.45638869
53MP0002177_abnormal_outer_ear0.44870632
54MP0003436_decreased_susceptibility_to0.39302602
55MP0002111_abnormal_tail_morphology0.36324654
56MP0003724_increased_susceptibility_to0.35363863
57MP0003763_abnormal_thymus_physiology0.34036216
58MP0010030_abnormal_orbit_morphology0.29020866
59MP0003950_abnormal_plasma_membrane0.28709238
60MP0001340_abnormal_eyelid_morphology0.26131486
61MP0002133_abnormal_respiratory_system0.25769128
62MP0005388_respiratory_system_phenotype0.25769128
63MP0004197_abnormal_fetal_growth/weight/0.24270701
64MP0000470_abnormal_stomach_morphology0.24127742
65MP0008438_abnormal_cutaneous_collagen0.24080871
66MP0005503_abnormal_tendon_morphology0.23881066
67MP0003638_abnormal_response/metabolism_0.23006485
68MP0003755_abnormal_palate_morphology0.22607598
69MP0002282_abnormal_trachea_morphology0.22296444
70MP0008260_abnormal_autophagy0.21340613
71MP0005375_adipose_tissue_phenotype0.21329117
72MP0003300_gastrointestinal_ulcer0.20460943
73MP0005666_abnormal_adipose_tissue0.20376575
74MP0005387_immune_system_phenotype0.20143150
75MP0001790_abnormal_immune_system0.20143150
76MP0000627_abnormal_mammary_gland0.16949341
77MP0001533_abnormal_skeleton_physiology0.16945731
78MP0009333_abnormal_splenocyte_physiolog0.16925778
79MP0001186_pigmentation_phenotype0.16609021
80MP0001177_atelectasis0.15977975
81MP0002006_tumorigenesis0.15913951
82MP0003448_altered_tumor_morphology0.15508641
83MP0001905_abnormal_dopamine_level0.15149069
84MP0008569_lethality_at_weaning0.15112002
85MP0005025_abnormal_response_to0.14837271
86MP0002877_abnormal_melanocyte_morpholog0.14367528
87MP0000858_altered_metastatic_potential0.13190493
88MP0009840_abnormal_foam_cell0.12892930
89MP0002254_reproductive_system_inflammat0.11670738
90MP0000003_abnormal_adipose_tissue0.10978556
91MP0001765_abnormal_ion_homeostasis0.10706599
92MP0008789_abnormal_olfactory_epithelium0.10681841
93MP0010155_abnormal_intestine_physiology0.10347167
94MP0003045_fibrosis0.09042032
95MP0003633_abnormal_nervous_system0.08667662
96MP0005499_abnormal_olfactory_system0.07772661
97MP0005394_taste/olfaction_phenotype0.07772661
98MP0005075_abnormal_melanosome_morpholog0.07627004
99MP0001879_abnormal_lymphatic_vessel0.06781098
100MP0009765_abnormal_xenobiotic_induced0.06140235

Predicted human phenotypes

RankGene SetZ-score
1Palmoplantar hyperkeratosis (HP:0000972)9.46661492
2Palmar hyperkeratosis (HP:0010765)9.00251397
3Congenital nonbullous ichthyosiform erythroderma (HP:0007479)8.99305162
4Erythroderma (HP:0001019)8.87315787
5Increased IgE level (HP:0003212)8.60830830
6Oral leukoplakia (HP:0002745)8.42387216
7Congenital ichthyosiform erythroderma (HP:0007431)8.29565598
8Plantar hyperkeratosis (HP:0007556)7.53845533
9Parakeratosis (HP:0001036)6.70066208
10Alopecia of scalp (HP:0002293)6.40505308
11Erythema (HP:0010783)6.39465629
12Onycholysis (HP:0001806)6.36893422
13Corneal erosion (HP:0200020)5.83220330
14Thick nail (HP:0001805)5.80242132
15Gangrene (HP:0100758)5.00528180
16Hypotrichosis (HP:0001006)4.94463779
17Ectropion (HP:0000656)4.75142668
18Conjunctival hamartoma (HP:0100780)4.72816374
19Abnormality of secondary sexual hair (HP:0009888)4.68843788
20Abnormality of the axillary hair (HP:0100134)4.68843788
21Hypohidrosis (HP:0000966)4.48565430
22Pustule (HP:0200039)4.21021918
23Palmoplantar keratoderma (HP:0000982)4.20693571
24Nail dystrophy (HP:0008404)3.99461797
25Follicular hyperkeratosis (HP:0007502)3.91674700
26Amniotic constriction ring (HP:0009775)3.62019371
27Abnormality of placental membranes (HP:0011409)3.62019371
28Right ventricular cardiomyopathy (HP:0011663)3.49395475
29Furrowed tongue (HP:0000221)3.37931082
30Absent eyelashes (HP:0000561)3.37043620
31Absent hair (HP:0002298)3.32483726
32Sparse eyelashes (HP:0000653)3.28478304
33Fragile nails (HP:0001808)3.22743538
34Hamartoma of the eye (HP:0010568)3.11528524
35Abnormal blistering of the skin (HP:0008066)3.07234379
36Lack of skin elasticity (HP:0100679)3.05354993
37Lip pit (HP:0100267)3.02589902
38Pruritus (HP:0000989)2.95495213
39Woolly hair (HP:0002224)2.90094030
40Autoamputation (HP:0001218)2.72969732
41Paralysis (HP:0003470)2.68694952
42Laryngomalacia (HP:0001601)2.46584919
43Dehydration (HP:0001944)2.44388403
44Urticaria (HP:0001025)2.43401470
45Sparse scalp hair (HP:0002209)2.42439063
46Abnormality of the salivary glands (HP:0010286)2.41445016
47Hypergammaglobulinemia (HP:0010702)2.34337714
48Multifactorial inheritance (HP:0001426)2.30392581
49Blepharitis (HP:0000498)2.23336556
50Keratoconjunctivitis sicca (HP:0001097)2.22773310
51Recurrent corneal erosions (HP:0000495)2.17145246
52Brittle hair (HP:0002299)2.16444160
53Ridged nail (HP:0001807)2.07544496
54Sepsis (HP:0100806)2.07253481
55Keratoconjunctivitis (HP:0001096)2.03416875
56Abnormality of nail color (HP:0100643)14.0485568
57Hyperhidrosis (HP:0000975)1.97723851
58Recurrent bacterial skin infections (HP:0005406)1.96014361
59Pili torti (HP:0003777)1.91674501
60Corneal dystrophy (HP:0001131)1.83505646
61Anonychia (HP:0001798)1.77883294
62Skin ulcer (HP:0200042)1.74218237
63Melanocytic nevus (HP:0000995)1.72768338
64Verrucae (HP:0200043)1.72386774
65Papilloma (HP:0012740)1.72386774
66Abnormal hair laboratory examination (HP:0003328)1.70484237
67Natal tooth (HP:0000695)1.67752309
68Carious teeth (HP:0000670)1.67473788
69Hypoplastic toenails (HP:0001800)1.60781656
70Dry skin (HP:0000958)1.58518122
71Abnormality of hair growth rate (HP:0011363)1.57974244
72Slow-growing hair (HP:0002217)1.57974244
73Milia (HP:0001056)1.55319018
74Abnormality of the fingernails (HP:0001231)1.53871370
75Advanced eruption of teeth (HP:0006288)1.52983319
76Preauricular skin tag (HP:0000384)1.52676988
77Eczematoid dermatitis (HP:0000976)1.49952773
78Fine hair (HP:0002213)1.48863386
79Abnormality of small intestinal villus morphology (HP:0011472)1.38265583
80Villous atrophy (HP:0011473)1.38265583
81Hamartoma (HP:0010566)1.37052405
82Squamous cell carcinoma (HP:0002860)1.31835644
83Skin tags (HP:0010609)1.29295397
84Axonal loss (HP:0003447)1.29247573
85Acanthosis nigricans (HP:0000956)1.28719455
86Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.28126854
87Everted lower lip vermilion (HP:0000232)1.25807106
88Abnormalities of placenta or umbilical cord (HP:0001194)1.25794222
89Acanthocytosis (HP:0001927)1.24607461
90Dry hair (HP:0011359)1.22476810
91Xerostomia (HP:0000217)1.21756235
92Hypoplastic labia majora (HP:0000059)1.21309853
93Generalized hyperpigmentation (HP:0007440)1.19104567
94Fatigable weakness (HP:0003473)1.18398706
95Abnormality of the neuromuscular junction (HP:0003398)1.18398706
96Recurrent skin infections (HP:0001581)1.14275914
97Selective tooth agenesis (HP:0001592)1.13396561
98Ventricular tachycardia (HP:0004756)1.12016542
99Abnormality of the labia majora (HP:0012881)1.09499300
100Knee flexion contracture (HP:0006380)1.06022786

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K64.35314600
2EPHA34.17817209
3FER4.17711508
4TGFBR14.10173797
5MAP3K93.63120911
6EPHA23.38865365
7ERN13.26468067
8EPHB12.90070698
9STK242.84807205
10MAP3K32.44326186
11SGK4942.44315228
12SGK2232.44315228
13FGFR42.36192424
14MAP3K22.32350464
15GRK62.25397897
16FGFR32.25349924
17IRAK11.92762902
18RIPK11.83589687
19TAOK11.68463194
20MST1R1.65304951
21MAPKAPK31.64651204
22MAP2K61.63377622
23EPHB21.55010499
24MAP3K11.54206194
25FGFR11.49637703
26JAK31.31624014
27PTK21.30328521
28IKBKB1.29209550
29MET1.20223571
30LATS11.19709694
31IRAK31.17325026
32MAPK71.08986550
33NLK1.07318371
34PDGFRA1.00347534
35FGR0.95343416
36BLK0.92143603
37MARK20.90929487
38ERBB30.89417494
39PRKD20.85158854
40RET0.84113240
41TGFBR20.83003209
42BMX0.81999559
43MST40.81876761
44IKBKE0.81825590
45TRPM70.81005811
46KIT0.76482238
47PRPF4B0.71170498
48CDC42BPA0.70198739
49MAPKAPK20.68329245
50DMPK0.65620187
51HIPK20.60554698
52LATS20.58932532
53CDK120.58061493
54MAP3K120.57969596
55PIM20.57891339
56STK380.56261010
57GSK3A0.55331852
58SGK10.54014270
59TTN0.51401614
60HCK0.50775095
61LRRK20.49693117
62STK30.48095368
63FLT30.47471058
64ADRBK10.47424417
65TYRO30.47158890
66TAOK30.45499835
67SIK30.45082394
68DYRK20.43823974
69KSR20.43130404
70ABL20.42403875
71TXK0.42111836
72BCR0.39641180
73JAK10.39582507
74ZAP700.38197264
75BMPR20.38119403
76MAP3K110.36870524
77PBK0.36638797
78STK38L0.36380015
79IRAK40.35178530
80TBK10.31672547
81MAP3K70.31614122
82MAP4K10.30930742
83PRKCE0.30362629
84SIK10.29690535
85PTK60.29602730
86PRKCI0.29354438
87PDGFRB0.27126954
88SGK30.24629116
89MTOR0.23827472
90PRKCD0.23107361
91MAP3K140.23016079
92TAOK20.21456276
93PRKAA20.21347951
94RPS6KA10.21199364
95EPHA40.20703542
96MAP3K130.19509760
97JAK20.19491672
98PDK20.19040037
99TESK10.17377132
100PRKD10.17357464

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005927.90387998
2Linoleic acid metabolism_Homo sapiens_hsa005916.58042511
3Ether lipid metabolism_Homo sapiens_hsa005654.59074188
4Arachidonic acid metabolism_Homo sapiens_hsa005904.48119547
5Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.75204591
6Ovarian steroidogenesis_Homo sapiens_hsa049132.47649487
7VEGF signaling pathway_Homo sapiens_hsa043702.33388988
8GnRH signaling pathway_Homo sapiens_hsa049122.21650283
9Long-term depression_Homo sapiens_hsa047301.97339776
10Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.95477797
11Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.91999398
12Vascular smooth muscle contraction_Homo sapiens_hsa042701.81103952
13Staphylococcus aureus infection_Homo sapiens_hsa051501.79690915
14Glycerophospholipid metabolism_Homo sapiens_hsa005641.76274083
15Sphingolipid metabolism_Homo sapiens_hsa006001.56637944
16Serotonergic synapse_Homo sapiens_hsa047261.55060932
17Amoebiasis_Homo sapiens_hsa051461.51122127
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.45655543
19Fat digestion and absorption_Homo sapiens_hsa049751.43273568
20Histidine metabolism_Homo sapiens_hsa003401.36909902
21Choline metabolism in cancer_Homo sapiens_hsa052311.29753048
22Phototransduction_Homo sapiens_hsa047441.19305160
23Ras signaling pathway_Homo sapiens_hsa040141.10102112
24Platelet activation_Homo sapiens_hsa046110.97873776
25Pertussis_Homo sapiens_hsa051330.93753519
26Phospholipase D signaling pathway_Homo sapiens_hsa040720.80399709
27Pancreatic secretion_Homo sapiens_hsa049720.78507625
28Renin secretion_Homo sapiens_hsa049240.77356641
29Glutamatergic synapse_Homo sapiens_hsa047240.77231341
30Acute myeloid leukemia_Homo sapiens_hsa052210.75051439
31Oxytocin signaling pathway_Homo sapiens_hsa049210.75041319
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71111055
33Phenylalanine metabolism_Homo sapiens_hsa003600.63601257
34Sphingolipid signaling pathway_Homo sapiens_hsa040710.60035591
35Circadian rhythm_Homo sapiens_hsa047100.59303273
36Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.58218739
37Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.57165497
38Glioma_Homo sapiens_hsa052140.48656166
39Renin-angiotensin system_Homo sapiens_hsa046140.48537876
40Arginine biosynthesis_Homo sapiens_hsa002200.47574381
41Tuberculosis_Homo sapiens_hsa051520.47453636
42Fructose and mannose metabolism_Homo sapiens_hsa000510.45983084
43Steroid hormone biosynthesis_Homo sapiens_hsa001400.43757828
44MAPK signaling pathway_Homo sapiens_hsa040100.43512921
45HIF-1 signaling pathway_Homo sapiens_hsa040660.41171123
46Gastric acid secretion_Homo sapiens_hsa049710.40606940
47ABC transporters_Homo sapiens_hsa020100.40567675
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.40078759
49Long-term potentiation_Homo sapiens_hsa047200.38494924
50Influenza A_Homo sapiens_hsa051640.37665303
51NOD-like receptor signaling pathway_Homo sapiens_hsa046210.36831436
52Galactose metabolism_Homo sapiens_hsa000520.34396157
53Fatty acid elongation_Homo sapiens_hsa000620.34327786
54Dorso-ventral axis formation_Homo sapiens_hsa043200.33378312
55Malaria_Homo sapiens_hsa051440.32878460
56Asthma_Homo sapiens_hsa053100.32523076
57Leishmaniasis_Homo sapiens_hsa051400.29324039
58Toxoplasmosis_Homo sapiens_hsa051450.27872975
59Cyanoamino acid metabolism_Homo sapiens_hsa004600.27375985
60MicroRNAs in cancer_Homo sapiens_hsa052060.27324739
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.26750398
62Renal cell carcinoma_Homo sapiens_hsa052110.26098228
63Insulin signaling pathway_Homo sapiens_hsa049100.26070938
64Mineral absorption_Homo sapiens_hsa049780.25577465
65Salmonella infection_Homo sapiens_hsa051320.25471027
66Melanogenesis_Homo sapiens_hsa049160.24463261
67Bladder cancer_Homo sapiens_hsa052190.24065660
68Estrogen signaling pathway_Homo sapiens_hsa049150.23377149
69Central carbon metabolism in cancer_Homo sapiens_hsa052300.22729338
70Salivary secretion_Homo sapiens_hsa049700.22014587
71Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.21163027
72ECM-receptor interaction_Homo sapiens_hsa045120.20776678
73RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.20508820
74PPAR signaling pathway_Homo sapiens_hsa033200.19881935
75Arginine and proline metabolism_Homo sapiens_hsa003300.19055103
76Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.18917969
77TNF signaling pathway_Homo sapiens_hsa046680.18584545
78Rap1 signaling pathway_Homo sapiens_hsa040150.18575852
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.18255801
80Graft-versus-host disease_Homo sapiens_hsa053320.18113588
81Pancreatic cancer_Homo sapiens_hsa052120.17800163
82Shigellosis_Homo sapiens_hsa051310.17487925
83AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.17419620
84Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.17392604
85Retinol metabolism_Homo sapiens_hsa008300.17052646
86beta-Alanine metabolism_Homo sapiens_hsa004100.16871046
87Adherens junction_Homo sapiens_hsa045200.16346961
88Endocytosis_Homo sapiens_hsa041440.16066788
89Hepatitis C_Homo sapiens_hsa051600.15565486
90Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.14609535
91Rheumatoid arthritis_Homo sapiens_hsa053230.13995714
92Allograft rejection_Homo sapiens_hsa053300.13297202
93NF-kappa B signaling pathway_Homo sapiens_hsa040640.12868143
94Protein digestion and absorption_Homo sapiens_hsa049740.12860142
95Autoimmune thyroid disease_Homo sapiens_hsa053200.12821060
96Aldosterone synthesis and secretion_Homo sapiens_hsa049250.12224560
97Axon guidance_Homo sapiens_hsa043600.11940650
98Proteoglycans in cancer_Homo sapiens_hsa052050.11613476
99Calcium signaling pathway_Homo sapiens_hsa040200.11530546
100Phagosome_Homo sapiens_hsa041450.11355585

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