DEFB4B

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
1long-chain fatty acid biosynthetic process (GO:0042759)9.38172674
2desmosome organization (GO:0002934)9.18091419
3phosphatidylinositol acyl-chain remodeling (GO:0036149)8.92322486
4epidermis development (GO:0008544)8.81319979
5phosphatidylserine acyl-chain remodeling (GO:0036150)8.67624467
6multicellular organismal water homeostasis (GO:0050891)8.59020251
7lipoxygenase pathway (GO:0019372)8.14688436
8detection of bacterium (GO:0016045)7.85631876
9positive regulation of monocyte chemotaxis (GO:0090026)7.77807688
10linoleic acid metabolic process (GO:0043651)7.31871068
11sequestering of metal ion (GO:0051238)7.27268277
12detection of other organism (GO:0098543)7.26185662
13keratinocyte proliferation (GO:0043616)7.24729184
14molting cycle (GO:0042303)7.18410794
15hair cycle (GO:0042633)7.18410794
16water homeostasis (GO:0030104)7.16427410
17positive regulation of T cell chemotaxis (GO:0010820)6.83297710
18regulation of T cell chemotaxis (GO:0010819)6.83297710
19phosphatidylethanolamine acyl-chain remodeling (GO:0036152)6.81826327
20phosphatidylglycerol acyl-chain remodeling (GO:0036148)6.45301080
21bundle of His cell to Purkinje myocyte communication (GO:0086069)6.40753791
22regulation of natural killer cell differentiation (GO:0032823)6.28232657
23phosphatidylcholine acyl-chain remodeling (GO:0036151)6.12915213
24negative regulation of interferon-gamma production (GO:0032689)5.96645153
25skin morphogenesis (GO:0043589)5.93998403
26regulation of monocyte chemotaxis (GO:0090025)5.76656153
27negative regulation of interleukin-17 production (GO:0032700)5.73535941
28gap junction assembly (GO:0016264)5.65143899
29phosphatidylserine metabolic process (GO:0006658)5.37257612
30intermediate filament cytoskeleton organization (GO:0045104)5.22364292
31intermediate filament-based process (GO:0045103)5.05798914
32positive regulation of granulocyte chemotaxis (GO:0071624)4.84866768
33phospholipid catabolic process (GO:0009395)4.55969888
34detection of external biotic stimulus (GO:0098581)4.46230620
35ectoderm development (GO:0007398)4.45455685
36alditol phosphate metabolic process (GO:0052646)4.41328421
37intermediate filament organization (GO:0045109)4.30706045
38complement activation, classical pathway (GO:0006958)4.24615186
39ceramide biosynthetic process (GO:0046513)4.24487893
40regulation of lymphocyte chemotaxis (GO:1901623)4.18457421
41hemidesmosome assembly (GO:0031581)4.03944513
42epithelium development (GO:0060429)4.02403065
43surfactant homeostasis (GO:0043129)4.02020987
44positive regulation of T cell migration (GO:2000406)3.90846113
45detection of biotic stimulus (GO:0009595)3.82158233
46complement activation (GO:0006956)3.79635671
47regulation of T cell migration (GO:2000404)3.78411605
48phosphatidylglycerol metabolic process (GO:0046471)3.38416077
49epithelial cell differentiation (GO:0030855)3.36906962
50defense response to Gram-negative bacterium (GO:0050829)3.34914064
51defense response to fungus (GO:0050832)3.33763562
52chemical homeostasis within a tissue (GO:0048875)3.33412340
53regulation of granulocyte chemotaxis (GO:0071622)3.31819866
54regulation of neuron projection regeneration (GO:0070570)3.25972425
55regulation of axon regeneration (GO:0048679)3.25972425
56regulation of interleukin-17 production (GO:0032660)3.25933599
57establishment of tissue polarity (GO:0007164)3.25688457
58establishment of planar polarity (GO:0001736)3.25688457
59keratinocyte development (GO:0003334)3.23985826
60positive regulation of lymphocyte migration (GO:2000403)3.19178743
61hair cell differentiation (GO:0035315)3.14965290
62response to phenylpropanoid (GO:0080184)3.13885228
63antimicrobial humoral response (GO:0019730)3.04627212
64keratinization (GO:0031424)26.1358049
65phosphatidic acid metabolic process (GO:0046473)2.99058327
66phosphatidic acid biosynthetic process (GO:0006654)2.99058327
67regulation of natural killer cell activation (GO:0032814)2.92670116
68negative regulation of keratinocyte proliferation (GO:0010839)2.88972621
69negative regulation of interleukin-6 production (GO:0032715)2.72068650
70protein activation cascade (GO:0072376)2.68525319
71regulation of lymphocyte migration (GO:2000401)2.68051448
72sphingolipid biosynthetic process (GO:0030148)2.61868652
73positive regulation of epidermis development (GO:0045684)2.59921077
74phosphatidylcholine metabolic process (GO:0046470)2.50567704
75phospholipid efflux (GO:0033700)2.48868139
76unsaturated fatty acid biosynthetic process (GO:0006636)2.47998506
77positive regulation of antigen processing and presentation (GO:0002579)2.43236350
78regulation of dendritic cell antigen processing and presentation (GO:0002604)2.38963143
79ventricular cardiac muscle cell action potential (GO:0086005)2.38724310
80hair follicle morphogenesis (GO:0031069)2.31032166
81response to zinc ion (GO:0010043)2.29175724
82eyelid development in camera-type eye (GO:0061029)2.25546134
83one-carbon compound transport (GO:0019755)2.24701262
84polarized epithelial cell differentiation (GO:0030859)2.24576615
85defense response to bacterium (GO:0042742)2.22316922
86positive regulation of epidermal cell differentiation (GO:0045606)2.21507988
87negative regulation of lymphocyte differentiation (GO:0045620)2.19834791
88humoral immune response (GO:0006959)2.19267233
89negative regulation of endopeptidase activity (GO:0010951)2.19042386
90regulation of keratinocyte proliferation (GO:0010837)2.18749560
91leukocyte aggregation (GO:0070486)2.18341824
92response to fungus (GO:0009620)2.17675046
93response to UV-B (GO:0010224)2.17419477
94negative regulation of peptidase activity (GO:0010466)2.16494699
95regulation of keratinocyte differentiation (GO:0045616)2.15836862
96keratinocyte differentiation (GO:0030216)16.1334551
97establishment of skin barrier (GO:0061436)15.5654245
98regulation of water loss via skin (GO:0033561)13.3826465
99epidermal cell differentiation (GO:0009913)12.3720675
100peptide cross-linking (GO:0018149)12.1338885

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.81666359
2P63_26484246_Chip-Seq_KERATINOCYTES_Human4.52379359
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.27415249
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.32283040
5SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.06609251
6GATA6_21074721_ChIP-Seq_CACO-2_Mouse2.26718726
7EGR1_19032775_ChIP-ChIP_M12_Human2.23980927
8VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.20435949
9ERG_20517297_ChIP-Seq_VCAP_Human2.17979109
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.12993816
11SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.03801627
12SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.03801627
13ESR1_20079471_ChIP-ChIP_T-47D_Human2.02497157
14TP63_17297297_ChIP-ChIP_HaCaT_Human12.8307417
15DNAJC2_21179169_ChIP-ChIP_NT2_Human1.96192779
16GATA6_21074721_ChIP-Seq_CACO-2_Human1.84899983
17TP63_22573176_ChIP-Seq_HFKS_Human1.84341644
18TP63_23658742_ChIP-Seq_EP156T_Human1.72020053
19ZNF263_19887448_ChIP-Seq_K562_Human1.69823173
20RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.68305454
21BP1_19119308_ChIP-ChIP_Hs578T_Human1.65139380
22SOX2_20726797_ChIP-Seq_SW620_Human1.64786291
23SOX9_24532713_ChIP-Seq_HFSC_Mouse1.63112289
24TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.58502658
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.58209000
26E2F1_20622854_ChIP-Seq_HELA_Human1.56437675
27SMC4_20622854_ChIP-Seq_HELA_Human1.54797606
28ATF3_27146783_Chip-Seq_COLON_Human1.52632753
29STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.47565205
30CTCF_20526341_ChIP-Seq_ESCs_Human1.45163424
31BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.39298604
32CTCF_27219007_Chip-Seq_Bcells_Human1.37438814
33KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.35931507
34BCOR_27268052_Chip-Seq_Bcells_Human1.35774882
35ESR1_21235772_ChIP-Seq_MCF-7_Human1.35130680
36STAT6_21828071_ChIP-Seq_BEAS2B_Human1.32112829
37TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.30446959
38BCL6_27268052_Chip-Seq_Bcells_Human1.28087630
39RXR_22108803_ChIP-Seq_LS180_Human1.26621845
40SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.23595706
41NANOG_20526341_ChIP-Seq_ESCs_Human1.23219816
42P53_21459846_ChIP-Seq_SAOS-2_Human1.19277633
43P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.18650719
44LXR_22292898_ChIP-Seq_THP-1_Human1.18387779
45NCOR_22424771_ChIP-Seq_293T_Human1.11590568
46GATA3_24758297_ChIP-Seq_MCF-7_Human1.10868898
47RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.09398249
48BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.08069606
49TAF2_19829295_ChIP-Seq_ESCs_Human1.07163258
50CJUN_26792858_Chip-Seq_BT549_Human1.06266735
51RUNX1_27514584_Chip-Seq_MCF-7_Human1.05730347
52HIF1A_21447827_ChIP-Seq_MCF-7_Human1.03247493
53HTT_18923047_ChIP-ChIP_STHdh_Human1.02440350
54SA1_27219007_Chip-Seq_ERYTHROID_Human1.01656260
55KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.01592726
56ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01295592
57VDR_22108803_ChIP-Seq_LS180_Human1.01139269
58JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00872407
59ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99607518
60P300_27268052_Chip-Seq_Bcells_Human0.98987297
61CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.98782451
62KLF5_25053715_ChIP-Seq_YYC3_Human0.98554919
63RACK7_27058665_Chip-Seq_MCF-7_Human0.97453523
64RBPJ_21746931_ChIP-Seq_IB4_Human0.96032401
65ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94945630
66FOXO3_23340844_ChIP-Seq_DLD1_Human0.94223941
67EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.94144643
68CEBPB_22108803_ChIP-Seq_LS180_Human0.93854888
69GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.93474845
70MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.90206366
71P68_20966046_ChIP-Seq_HELA_Human0.88785227
72UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.87679299
73GATA4_25053715_ChIP-Seq_YYC3_Human0.87475964
74PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87233960
75RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85723647
76UBF1/2_26484160_Chip-Seq_HMECs_Human0.84760484
77CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.84703610
78FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.84071391
79GATA6_25053715_ChIP-Seq_YYC3_Human0.82441234
80SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81641702
81AR_20517297_ChIP-Seq_VCAP_Human0.81024082
82PPAR_26484153_Chip-Seq_NCI-H1993_Human0.80183606
83SRY_22984422_ChIP-ChIP_TESTIS_Rat0.78951972
84ELK3_25401928_ChIP-Seq_HUVEC_Human0.77622952
85JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77323655
86YY1_22570637_ChIP-Seq_MALME-3M_Human0.76989836
87GATA2_19941826_ChIP-Seq_K562_Human0.76471193
88FOXM1_26456572_ChIP-Seq_MCF-7_Human0.76441097
89SA1_27219007_Chip-Seq_Bcells_Human0.74586859
90SOX2_27498859_Chip-Seq_STOMACH_Mouse0.74248499
91OCT4_20526341_ChIP-Seq_ESCs_Human0.73987502
92ELF1_20517297_ChIP-Seq_JURKAT_Human0.73895350
93GATA3_21878914_ChIP-Seq_MCF-7_Human0.73385349
94PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.72719357
95HNFA_21074721_ChIP-Seq_CACO-2_Human0.72623552
96AR_21572438_ChIP-Seq_LNCaP_Human0.72395482
97SPI1_20517297_ChIP-Seq_HL60_Human0.71873416
98CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70970073
99TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.70842266
100AHR_22903824_ChIP-Seq_MCF-7_Human0.70513006

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier9.20292949
2MP0005275_abnormal_skin_tensile7.58270252
3MP0010234_abnormal_vibrissa_follicle7.43932530
4MP0000579_abnormal_nail_morphology5.88308734
5MP0005501_abnormal_skin_physiology5.11978655
6MP0004885_abnormal_endolymph3.29634657
7MP0003878_abnormal_ear_physiology3.25344196
8MP0005377_hearing/vestibular/ear_phenot3.25344196
9MP0001216_abnormal_epidermal_layer3.00374705
10MP0003453_abnormal_keratinocyte_physiol2.96730671
11MP0010678_abnormal_skin_adnexa2.95861337
12MP0002060_abnormal_skin_morphology2.65937257
13MP0010771_integument_phenotype2.65843755
14MP0003941_abnormal_skin_development2.51296569
15MP0005409_darkened_coat_color2.46096880
16MP0000467_abnormal_esophagus_morphology2.37151552
17MP0003191_abnormal_cellular_cholesterol2.18511033
18MP0000383_abnormal_hair_follicle2.13990581
19MP0004264_abnormal_extraembryonic_tissu2.02518557
20MP0000377_abnormal_hair_follicle1.94732056
21MP0004947_skin_inflammation1.92462193
22MP0002098_abnormal_vibrissa_morphology1.89254809
23MP0010352_gastrointestinal_tract_polyps1.84318798
24MP0003705_abnormal_hypodermis_morpholog1.82607171
25MP0004381_abnormal_hair_follicle1.81777475
26MP0001188_hyperpigmentation1.75347548
27MP0004782_abnormal_surfactant_physiolog1.64704356
28MP0009931_abnormal_skin_appearance1.58573833
29MP0000465_gastrointestinal_hemorrhage1.37414803
30MP0000762_abnormal_tongue_morphology1.35476144
31MP0008004_abnormal_stomach_pH1.32098103
32MP0003011_delayed_dark_adaptation1.30349626
33MP0001851_eye_inflammation1.19213895
34MP0003566_abnormal_cell_adhesion1.17139466
35MP0001191_abnormal_skin_condition1.15853822
36MP0000367_abnormal_coat/_hair1.10701443
37MP0002095_abnormal_skin_pigmentation1.07411233
38MP0000427_abnormal_hair_cycle1.06213633
39MP0000647_abnormal_sebaceous_gland1.04235653
40MP0004043_abnormal_pH_regulation0.94483007
41MP0002138_abnormal_hepatobiliary_system0.90332446
42MP0009053_abnormal_anal_canal0.88302519
43MP0005023_abnormal_wound_healing0.75999261
44MP0000685_abnormal_immune_system0.75989220
45MP0003724_increased_susceptibility_to0.75766951
46MP0001243_abnormal_dermal_layer0.74998995
47MP0001784_abnormal_fluid_regulation0.74666402
48MP0003315_abnormal_perineum_morphology0.68900414
49MP0001485_abnormal_pinna_reflex0.66024161
50MP0002234_abnormal_pharynx_morphology0.65163627
51MP0003436_decreased_susceptibility_to0.53662130
52MP0000566_synostosis0.51063697
53MP0003638_abnormal_response/metabolism_0.45476272
54MP0002177_abnormal_outer_ear0.43438887
55MP0004185_abnormal_adipocyte_glucose0.41816240
56MP0005503_abnormal_tendon_morphology0.40391875
57MP0003763_abnormal_thymus_physiology0.39532530
58MP0002282_abnormal_trachea_morphology0.38418890
59MP0009379_abnormal_foot_pigmentation0.37039378
60MP0008789_abnormal_olfactory_epithelium0.33865787
61MP0005387_immune_system_phenotype0.33113826
62MP0001790_abnormal_immune_system0.33113826
63MP0010030_abnormal_orbit_morphology0.31743005
64MP0002111_abnormal_tail_morphology0.29928087
65MP0005388_respiratory_system_phenotype0.29731995
66MP0002133_abnormal_respiratory_system0.29731995
67MP0001533_abnormal_skeleton_physiology0.25734279
68MP0000470_abnormal_stomach_morphology0.24985318
69MP0005671_abnormal_response_to0.24464101
70MP0001340_abnormal_eyelid_morphology0.24335460
71MP0002254_reproductive_system_inflammat0.24235432
72MP0005025_abnormal_response_to0.23948355
73MP0008438_abnormal_cutaneous_collagen0.23820798
74MP0001186_pigmentation_phenotype0.22098283
75MP0002006_tumorigenesis0.20482976
76MP0001905_abnormal_dopamine_level0.19319837
77MP0000858_altered_metastatic_potential0.18570558
78MP0002148_abnormal_hypersensitivity_rea0.18546204
79MP0003303_peritoneal_inflammation0.17557270
80MP0005499_abnormal_olfactory_system0.17053918
81MP0005394_taste/olfaction_phenotype0.17053918
82MP0003806_abnormal_nucleotide_metabolis0.16766527
83MP0000627_abnormal_mammary_gland0.16543840
84MP0010155_abnormal_intestine_physiology0.16189795
85MP0008569_lethality_at_weaning0.15981004
86MP0004197_abnormal_fetal_growth/weight/0.15816835
87MP0003448_altered_tumor_morphology0.15174513
88MP0009765_abnormal_xenobiotic_induced0.14517771
89MP0003950_abnormal_plasma_membrane0.13414439
90MP0003045_fibrosis0.13241827
91MP0003633_abnormal_nervous_system0.13051806
92MP0001958_emphysema0.12822186
93MP0003300_gastrointestinal_ulcer0.12273052
94MP0003755_abnormal_palate_morphology0.11922443
95MP0001800_abnormal_humoral_immune0.10924274
96MP0009333_abnormal_splenocyte_physiolog0.10316039
97MP0003828_pulmonary_edema0.10258504
98MP0001879_abnormal_lymphatic_vessel0.10132701
99MP0008260_abnormal_autophagy0.09845782
100MP0004019_abnormal_vitamin_homeostasis0.09469126

Predicted human phenotypes

RankGene SetZ-score
1Palmoplantar hyperkeratosis (HP:0000972)9.60694168
2Congenital nonbullous ichthyosiform erythroderma (HP:0007479)9.56221951
3Increased IgE level (HP:0003212)9.19756045
4Palmar hyperkeratosis (HP:0010765)9.15286348
5Erythroderma (HP:0001019)9.14229146
6Congenital ichthyosiform erythroderma (HP:0007431)8.50229372
7Plantar hyperkeratosis (HP:0007556)7.67313116
8Oral leukoplakia (HP:0002745)7.62329659
9Alopecia of scalp (HP:0002293)7.08979007
10Erythema (HP:0010783)6.52378033
11Onycholysis (HP:0001806)6.21352929
12Parakeratosis (HP:0001036)6.20728099
13Corneal erosion (HP:0200020)5.86191446
14Thick nail (HP:0001805)5.73747894
15Hypotrichosis (HP:0001006)4.96903023
16Gangrene (HP:0100758)4.75178635
17Abnormality of secondary sexual hair (HP:0009888)4.70778327
18Abnormality of the axillary hair (HP:0100134)4.70778327
19Conjunctival hamartoma (HP:0100780)4.68901485
20Ectropion (HP:0000656)4.58543537
21Hypohidrosis (HP:0000966)4.50545242
22Fragile nails (HP:0001808)4.27302874
23Palmoplantar keratoderma (HP:0000982)4.27241069
24Pustule (HP:0200039)4.21366398
25Abnormality of placental membranes (HP:0011409)3.84663697
26Amniotic constriction ring (HP:0009775)3.84663697
27Nail dystrophy (HP:0008404)3.83691731
28Right ventricular cardiomyopathy (HP:0011663)3.68772395
29Absent eyelashes (HP:0000561)3.44258042
30Sparse eyelashes (HP:0000653)3.35977417
31Absent hair (HP:0002298)3.31296245
32Furrowed tongue (HP:0000221)3.29808052
33Hamartoma of the eye (HP:0010568)3.15060500
34Woolly hair (HP:0002224)2.95559409
35Abnormal blistering of the skin (HP:0008066)2.93604708
36Follicular hyperkeratosis (HP:0007502)2.92300585
37Pruritus (HP:0000989)2.89474547
38Lack of skin elasticity (HP:0100679)2.81352571
39Autoamputation (HP:0001218)2.74133219
40Urticaria (HP:0001025)2.73972524
41Sparse scalp hair (HP:0002209)2.68578583
42Hypergammaglobulinemia (HP:0010702)2.58715534
43Ridged nail (HP:0001807)2.55722117
44Brittle hair (HP:0002299)2.45918692
45Dehydration (HP:0001944)2.45306275
46Paralysis (HP:0003470)2.43904591
47Lip pit (HP:0100267)2.37278394
48Keratoconjunctivitis sicca (HP:0001097)2.29305113
49Blepharitis (HP:0000498)2.22204741
50Recurrent corneal erosions (HP:0000495)2.19787481
51Keratoconjunctivitis (HP:0001096)2.10669734
52Multifactorial inheritance (HP:0001426)2.09447617
53Abnormality of the salivary glands (HP:0010286)2.09281248
54Recurrent bacterial skin infections (HP:0005406)2.05377898
55Villous atrophy (HP:0011473)2.01454835
56Abnormality of small intestinal villus morphology (HP:0011472)2.01454835
57Abnormality of nail color (HP:0100643)12.8436439
58Hyperhidrosis (HP:0000975)1.98278448
59Laryngomalacia (HP:0001601)1.96867576
60Sepsis (HP:0100806)1.96788037
61Pili torti (HP:0003777)1.91324757
62Milia (HP:0001056)1.88789201
63Skin ulcer (HP:0200042)1.83443952
64Abnormal hair laboratory examination (HP:0003328)1.81294489
65Melanocytic nevus (HP:0000995)1.73994907
66Corneal dystrophy (HP:0001131)1.73690298
67Eczematoid dermatitis (HP:0000976)1.63790868
68Carious teeth (HP:0000670)1.61513121
69Acanthosis nigricans (HP:0000956)1.61088759
70Dry skin (HP:0000958)1.60265105
71Fine hair (HP:0002213)1.56766682
72Fatigable weakness (HP:0003473)1.51989868
73Abnormality of the neuromuscular junction (HP:0003398)1.51989868
74Hypoplastic toenails (HP:0001800)1.51599165
75Anonychia (HP:0001798)1.50532377
76Preauricular skin tag (HP:0000384)1.49526507
77Slow-growing hair (HP:0002217)1.47665251
78Abnormality of hair growth rate (HP:0011363)1.47665251
79Abnormality of the fingernails (HP:0001231)1.45783944
80Xerostomia (HP:0000217)1.42800853
81Verrucae (HP:0200043)1.42421707
82Papilloma (HP:0012740)1.42421707
83Hamartoma (HP:0010566)1.38756700
84Squamous cell carcinoma (HP:0002860)1.31514558
85Recurrent skin infections (HP:0001581)1.28103238
86Skin tags (HP:0010609)1.26369647
87Abnormalities of placenta or umbilical cord (HP:0001194)1.24100916
88Selective tooth agenesis (HP:0001592)1.22142009
89Generalized hyperpigmentation (HP:0007440)1.19996773
90Everted lower lip vermilion (HP:0000232)1.19318710
91Natal tooth (HP:0000695)1.18431519
92Ventricular tachycardia (HP:0004756)1.16582868
93Advanced eruption of teeth (HP:0006288)1.16382291
94Seborrheic dermatitis (HP:0001051)1.15280708
95Hypoplastic labia majora (HP:0000059)1.13568157
96Knee flexion contracture (HP:0006380)1.05069580
97Abnormality of the labia majora (HP:0012881)1.03044761
98Elbow flexion contracture (HP:0002987)1.02371392
99Distal lower limb muscle weakness (HP:0009053)0.98935807
100Hypermelanotic macule (HP:0001034)0.98596842

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR14.70878670
2MAP3K64.29203467
3EPHA34.16272328
4FER3.93214439
5ERN13.79545420
6MST1R3.18783663
7MAPKAPK32.76099959
8EPHB12.60256103
9GRK62.56629045
10MAP3K92.52423558
11EPHA22.22371091
12MET2.14811895
13FGFR32.11527131
14MAP3K32.06047161
15MAP3K21.99688154
16FGFR41.90763858
17EPHB21.90012091
18TGFBR21.78383648
19MAP2K61.75797486
20STK241.75248599
21BLK1.72601537
22PDK21.64241403
23TAOK11.55456820
24RIPK11.55361029
25MAPK71.53041867
26IRAK11.51962325
27MAP3K11.51270630
28IKBKB1.49065849
29TXK1.48433973
30ERBB31.47424756
31FGFR11.40595242
32TRPM71.31886761
33TTN1.23150996
34MAP4K11.16518255
35ADRBK11.13706296
36NLK1.09272435
37JAK30.99106250
38PTK20.98357968
39MAPKAPK20.95072282
40TAOK30.94135815
41FRK0.91890862
42DMPK0.89517288
43PIK3CG0.88352631
44MST40.86660023
45SGK2230.86058267
46SGK4940.86058267
47PRKD20.82222274
48MARK20.81429269
49CDC42BPA0.80680469
50STK100.78777950
51PBK0.77618858
52FLT30.77376701
53GRK70.76585541
54IKBKE0.69839025
55PDGFRA0.68233661
56RET0.67748106
57MAP3K120.67556517
58RPS6KB20.67290439
59ZAP700.66053700
60LRRK20.65648266
61HCK0.60455959
62PIM20.59213372
63HIPK20.57317958
64ABL20.57068971
65FGR0.56666250
66GRK50.54150266
67KIT0.51028645
68JAK10.48653189
69PRKCI0.47972164
70PRKCE0.47646808
71TBK10.41950262
72MOS0.38910455
73EPHA40.36635994
74IRAK30.36317280
75BMPR20.34242778
76MYLK0.32953961
77NME10.31925154
78JAK20.31276798
79PRKCD0.30413983
80PRKD10.30391372
81BMX0.29728334
82MAP3K110.29494362
83SYK0.28918289
84BCR0.28197311
85MAPK120.26820532
86IGF1R0.26365698
87CDK120.26233383
88LATS10.23828445
89PKN10.22651095
90STK38L0.21489347
91WNK10.20550409
92NTRK10.19880998
93SGK10.18412854
94ABL10.18255131
95CSK0.17896243
96MTOR0.17827784
97OBSCN0.16734620
98TIE10.16426821
99DYRK20.15764714
100PDGFRB0.15453307

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005927.87096200
2Linoleic acid metabolism_Homo sapiens_hsa005916.58903504
3Arachidonic acid metabolism_Homo sapiens_hsa005904.60602388
4Ether lipid metabolism_Homo sapiens_hsa005654.54156642
5Ovarian steroidogenesis_Homo sapiens_hsa049132.67543226
6Staphylococcus aureus infection_Homo sapiens_hsa051502.56607068
7VEGF signaling pathway_Homo sapiens_hsa043702.29256473
8GnRH signaling pathway_Homo sapiens_hsa049122.21452182
9Long-term depression_Homo sapiens_hsa047302.04288046
10Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.96115970
11Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.94460700
12Vascular smooth muscle contraction_Homo sapiens_hsa042701.87665319
13Sphingolipid metabolism_Homo sapiens_hsa006001.80700115
14Phototransduction_Homo sapiens_hsa047441.77284378
15Histidine metabolism_Homo sapiens_hsa003401.74665086
16Glycerophospholipid metabolism_Homo sapiens_hsa005641.72588482
17Serotonergic synapse_Homo sapiens_hsa047261.56864234
18Amoebiasis_Homo sapiens_hsa051461.50895465
19Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.41142058
20Choline metabolism in cancer_Homo sapiens_hsa052311.23451274
21Pertussis_Homo sapiens_hsa051331.18428493
22Renin-angiotensin system_Homo sapiens_hsa046141.10321815
23Fat digestion and absorption_Homo sapiens_hsa049751.10129051
24Asthma_Homo sapiens_hsa053101.04714346
25Ras signaling pathway_Homo sapiens_hsa040141.01465442
26Renin secretion_Homo sapiens_hsa049240.99411459
27Platelet activation_Homo sapiens_hsa046110.99132835
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.88220787
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81753120
30Glutamatergic synapse_Homo sapiens_hsa047240.80456713
31Phenylalanine metabolism_Homo sapiens_hsa003600.80375061
32Oxytocin signaling pathway_Homo sapiens_hsa049210.80308380
33Phospholipase D signaling pathway_Homo sapiens_hsa040720.73917888
34Graft-versus-host disease_Homo sapiens_hsa053320.70354951
35Tuberculosis_Homo sapiens_hsa051520.66831990
36Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60816660
37Allograft rejection_Homo sapiens_hsa053300.59180200
38Cyanoamino acid metabolism_Homo sapiens_hsa004600.58289913
39Pancreatic secretion_Homo sapiens_hsa049720.57525477
40Autoimmune thyroid disease_Homo sapiens_hsa053200.56976325
41Arginine biosynthesis_Homo sapiens_hsa002200.56877186
42Acute myeloid leukemia_Homo sapiens_hsa052210.56053767
43Steroid hormone biosynthesis_Homo sapiens_hsa001400.53055678
44Sphingolipid signaling pathway_Homo sapiens_hsa040710.52820943
45Malaria_Homo sapiens_hsa051440.52675872
46Arginine and proline metabolism_Homo sapiens_hsa003300.50755306
47ABC transporters_Homo sapiens_hsa020100.49416503
48Leishmaniasis_Homo sapiens_hsa051400.48825351
49Glioma_Homo sapiens_hsa052140.48580706
50Influenza A_Homo sapiens_hsa051640.48527726
51Intestinal immune network for IgA production_Homo sapiens_hsa046720.47947825
52Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.47550698
53Mineral absorption_Homo sapiens_hsa049780.46142588
54Gastric acid secretion_Homo sapiens_hsa049710.44443432
55Olfactory transduction_Homo sapiens_hsa047400.42889756
56beta-Alanine metabolism_Homo sapiens_hsa004100.41376697
57Rheumatoid arthritis_Homo sapiens_hsa053230.40276084
58Toxoplasmosis_Homo sapiens_hsa051450.39970534
59Type I diabetes mellitus_Homo sapiens_hsa049400.38341133
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.36861219
61MAPK signaling pathway_Homo sapiens_hsa040100.35599456
62Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.35002610
63Long-term potentiation_Homo sapiens_hsa047200.33226856
64Phagosome_Homo sapiens_hsa041450.32793610
65Phosphatidylinositol signaling system_Homo sapiens_hsa040700.32211227
66Salivary secretion_Homo sapiens_hsa049700.29741609
67Retinol metabolism_Homo sapiens_hsa008300.27135178
68Fatty acid elongation_Homo sapiens_hsa000620.27120402
69Salmonella infection_Homo sapiens_hsa051320.26147773
70NF-kappa B signaling pathway_Homo sapiens_hsa040640.24778775
71ECM-receptor interaction_Homo sapiens_hsa045120.24711590
72Viral myocarditis_Homo sapiens_hsa054160.24710269
73Antigen processing and presentation_Homo sapiens_hsa046120.23808719
74Estrogen signaling pathway_Homo sapiens_hsa049150.23515001
75TNF signaling pathway_Homo sapiens_hsa046680.21397820
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.21170679
77NOD-like receptor signaling pathway_Homo sapiens_hsa046210.20787247
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20222312
79PPAR signaling pathway_Homo sapiens_hsa033200.17877599
80Chemokine signaling pathway_Homo sapiens_hsa040620.17389933
81Melanogenesis_Homo sapiens_hsa049160.17367300
82Calcium signaling pathway_Homo sapiens_hsa040200.16357152
83Complement and coagulation cascades_Homo sapiens_hsa046100.14857227
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.13717974
85Tyrosine metabolism_Homo sapiens_hsa003500.13602177
86Amphetamine addiction_Homo sapiens_hsa050310.13039400
87Dorso-ventral axis formation_Homo sapiens_hsa043200.12872749
88cAMP signaling pathway_Homo sapiens_hsa040240.10009178
89Endocytosis_Homo sapiens_hsa041440.09663249
90Rap1 signaling pathway_Homo sapiens_hsa040150.09275443
91Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.08556227
92p53 signaling pathway_Homo sapiens_hsa041150.08324605
93Insulin signaling pathway_Homo sapiens_hsa049100.08139498
94Hepatitis C_Homo sapiens_hsa051600.08118727
95Circadian entrainment_Homo sapiens_hsa047130.08040441
96Axon guidance_Homo sapiens_hsa043600.06947238
97Collecting duct acid secretion_Homo sapiens_hsa049660.06389975
98Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.05965859
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.05477292
100Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.05189254

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