DEFA6

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 are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)7.93444093
2regulation of guanylate cyclase activity (GO:0031282)7.71146812
3NADH metabolic process (GO:0006734)7.03707303
4regulation of cellular extravasation (GO:0002691)6.85432220
5intestinal absorption (GO:0050892)6.19484075
6lipoprotein transport (GO:0042953)6.18352295
7positive regulation of guanylate cyclase activity (GO:0031284)5.99049634
8regulation of bile acid biosynthetic process (GO:0070857)5.82629097
9epoxygenase P450 pathway (GO:0019373)5.63887265
10fat-soluble vitamin biosynthetic process (GO:0042362)5.63119309
11fructose metabolic process (GO:0006000)5.57095775
12positive regulation of pseudopodium assembly (GO:0031274)5.29086095
13regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.99977419
14endocrine process (GO:0050886)4.99977419
15regulation of systemic arterial blood pressure by hormone (GO:0001990)4.99977419
16hormone catabolic process (GO:0042447)4.93964704
17regulation of pseudopodium assembly (GO:0031272)4.75741298
18adhesion of symbiont to host cell (GO:0044650)4.73260619
19virion attachment to host cell (GO:0019062)4.73260619
20regulation of cGMP biosynthetic process (GO:0030826)4.70278561
21diacylglycerol metabolic process (GO:0046339)4.63504047
22regulation of systemic arterial blood pressure (GO:0003073)4.60714351
23positive regulation of glycoprotein biosynthetic process (GO:0010560)4.57076757
24urea cycle (GO:0000050)4.46628915
25receptor guanylyl cyclase signaling pathway (GO:0007168)4.44647338
26* antibacterial humoral response (GO:0019731)4.33539270
27peptide catabolic process (GO:0043171)4.31881443
28very-low-density lipoprotein particle assembly (GO:0034379)4.30426111
29antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.30403522
30peptide hormone processing (GO:0016486)4.27328331
31* antimicrobial humoral response (GO:0019730)4.24395438
32urea metabolic process (GO:0019627)4.22803690
33drug metabolic process (GO:0017144)4.17744444
34antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.14538288
35positive regulation of glycoprotein metabolic process (GO:1903020)4.12572468
36regulation of vitamin metabolic process (GO:0030656)4.09228489
37antigen processing and presentation of endogenous antigen (GO:0019883)4.05589244
38vitamin A metabolic process (GO:0006776)4.05380449
39positive regulation of respiratory burst (GO:0060267)4.02877939
40regulation of dendritic cell antigen processing and presentation (GO:0002604)4.01808452
41adhesion of symbiont to host (GO:0044406)3.99456644
42glycolipid catabolic process (GO:0019377)3.97909998
43nitrogen cycle metabolic process (GO:0071941)3.95364175
44glycosphingolipid catabolic process (GO:0046479)3.93669554
45digestion (GO:0007586)3.91724405
46regulation of cGMP metabolic process (GO:0030823)3.90649043
47maintenance of gastrointestinal epithelium (GO:0030277)3.88571385
48regulation of triglyceride catabolic process (GO:0010896)3.85515287
49bile acid and bile salt transport (GO:0015721)3.85434489
50renal system process involved in regulation of blood volume (GO:0001977)3.79077762
51plasma lipoprotein particle assembly (GO:0034377)3.75832830
52response to nitric oxide (GO:0071731)3.74307691
53arginine metabolic process (GO:0006525)3.67771543
54glucuronate metabolic process (GO:0019585)3.62754918
55uronic acid metabolic process (GO:0006063)3.62754918
56cellular glucuronidation (GO:0052695)3.60626949
57cellular response to nitric oxide (GO:0071732)3.57879161
58alkaloid metabolic process (GO:0009820)3.48926331
59positive regulation of cGMP biosynthetic process (GO:0030828)3.48393160
60protein-lipid complex assembly (GO:0065005)3.42460431
61lipoprotein metabolic process (GO:0042157)3.41864077
62vitamin transmembrane transport (GO:0035461)3.41804581
63nucleoside diphosphate biosynthetic process (GO:0009133)3.34638122
64glomerular filtration (GO:0003094)3.33038485
65phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.30994882
66eosinophil chemotaxis (GO:0048245)3.30078545
67glutamine family amino acid biosynthetic process (GO:0009084)3.28993774
68positive regulation of Cdc42 GTPase activity (GO:0043089)3.28648088
69midgut development (GO:0007494)3.26596497
70homocysteine metabolic process (GO:0050667)3.26464078
71vitamin transport (GO:0051180)3.25252920
72drinking behavior (GO:0042756)3.23423539
73complement activation, classical pathway (GO:0006958)3.22334723
74cGMP-mediated signaling (GO:0019934)3.20518395
75low-density lipoprotein particle remodeling (GO:0034374)3.17870946
76ceramide catabolic process (GO:0046514)3.16057621
77cellular response to reactive nitrogen species (GO:1902170)3.14978517
78positive regulation of antigen processing and presentation (GO:0002579)3.13335067
79negative regulation of epidermal cell differentiation (GO:0045605)3.13110758
80sexual reproduction (GO:0019953)3.11917888
81transcytosis (GO:0045056)3.10763022
82fat-soluble vitamin metabolic process (GO:0006775)3.08970250
83digestive system process (GO:0022600)3.08129937
84positive regulation of lipoprotein lipase activity (GO:0051006)3.07960314
85positive regulation of triglyceride lipase activity (GO:0061365)3.07960314
86drug catabolic process (GO:0042737)3.07646808
87phosphatidylserine acyl-chain remodeling (GO:0036150)3.07604346
88positive regulation of cGMP metabolic process (GO:0030825)3.02799328
89renal filtration (GO:0097205)3.02266009
90regulation of cholesterol homeostasis (GO:2000188)3.02187818
91phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.01256652
92mRNA modification (GO:0016556)3.00873083
93actin filament depolymerization (GO:0030042)2.98056604
94flavonoid metabolic process (GO:0009812)2.97576053
95fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.97218282
96phospholipid efflux (GO:0033700)2.96908087
97sphingolipid catabolic process (GO:0030149)2.96085343
98cyclooxygenase pathway (GO:0019371)2.95770071
99glycosylceramide metabolic process (GO:0006677)2.95678064
100angiotensin maturation (GO:0002003)10.6402468

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CDX2_20551321_ChIP-Seq_CACO-2_Human4.84561666
2IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.71382909
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.73330450
4BP1_19119308_ChIP-ChIP_Hs578T_Human3.62074005
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.53908019
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.99724720
7SOX2_27498859_Chip-Seq_STOMACH_Mouse2.88673391
8HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.85047003
9GATA4_25053715_ChIP-Seq_YYC3_Human2.79892053
10CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.51329414
11GATA6_25053715_ChIP-Seq_YYC3_Human2.39938743
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.39180827
13RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.33194506
14PPARA_22158963_ChIP-Seq_LIVER_Mouse2.28371304
15TP63_17297297_ChIP-ChIP_HaCaT_Human2.14022317
16SOX2_20726797_ChIP-Seq_SW620_Human2.12374506
17LXR_22158963_ChIP-Seq_LIVER_Mouse2.12293360
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10067812
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.96037740
20NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.94692562
21EGR1_23403033_ChIP-Seq_LIVER_Mouse1.93916286
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.91304464
23* LXR_22292898_ChIP-Seq_THP-1_Human1.88936217
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.88693699
25CDX2_19796622_ChIP-Seq_MESCs_Mouse1.87462344
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.85242850
27IRF8_21731497_ChIP-ChIP_J774_Mouse1.78581492
28GATA1_22025678_ChIP-Seq_K562_Human1.77360655
29PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.71122381
30FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.61845437
31CLOCK_20551151_ChIP-Seq_293T_Human1.53318639
32BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.51430343
33RACK7_27058665_Chip-Seq_MCF-7_Human1.38542335
34KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.37527725
35* FOXO3_23340844_ChIP-Seq_DLD1_Human1.36786153
36SRY_22984422_ChIP-ChIP_TESTIS_Rat1.33825889
37PPAR_26484153_Chip-Seq_NCI-H1993_Human1.33677808
38AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.30932802
39SA1_27219007_Chip-Seq_Bcells_Human1.30555823
40TCF4_18268006_ChIP-ChIP_LS174T_Human1.29662057
41TET1_21451524_ChIP-Seq_MESCs_Mouse1.28841557
42ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.27306795
43EGR1_19032775_ChIP-ChIP_M12_Human1.26815973
44FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.25477402
45STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.24958047
46BCOR_27268052_Chip-Seq_Bcells_Human1.24051074
47KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.23937793
48BCL6_27268052_Chip-Seq_Bcells_Human1.23693107
49CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20597980
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17538802
51NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.16579628
52SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.15908617
53GATA2_19941826_ChIP-Seq_K562_Human1.14926937
54HNF4A_19822575_ChIP-Seq_HepG2_Human1.13830708
55VDR_24763502_ChIP-Seq_THP-1_Human1.13136311
56RARG_19884340_ChIP-ChIP_MEFs_Mouse1.11521097
57ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.11079494
58CTCF_27219007_Chip-Seq_Bcells_Human1.09247521
59SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.09056516
60TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08784832
61FOXA1_25552417_ChIP-Seq_VCAP_Human1.06958665
62GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06052359
63SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05906260
64JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.04931814
65KLF5_25053715_ChIP-Seq_YYC3_Human1.04455036
66VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.03295678
67P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02267187
68STAT1_20625510_ChIP-Seq_HELA_Human1.00999991
69GATA1_19941826_ChIP-Seq_K562_Human0.98227383
70IRF8_27001747_Chip-Seq_BMDM_Mouse0.98116878
71CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.97339901
72NANOG_20526341_ChIP-Seq_ESCs_Human0.95959527
73PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.95866763
74SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.93605550
75GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.92818736
76NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.92078981
77RUNX1_27514584_Chip-Seq_MCF-7_Human0.91936052
78CDX2_22108803_ChIP-Seq_LS180_Human0.91643401
79GATA1_22383799_ChIP-Seq_G1ME_Mouse0.91639965
80PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.91596147
81VDR_21846776_ChIP-Seq_THP-1_Human0.91132147
82CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.90579540
83RXR_22108803_ChIP-Seq_LS180_Human0.90032455
84RAD21_21589869_ChIP-Seq_MESCs_Mouse0.89254615
85PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87684686
86* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.86949741
87OCT4_18692474_ChIP-Seq_MEFs_Mouse0.86170812
88TCF3_18692474_ChIP-Seq_MEFs_Mouse0.85779175
89FOXA2_19822575_ChIP-Seq_HepG2_Human0.84922919
90FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.84798747
91VDR_24787735_ChIP-Seq_THP-1_Human0.84631539
92ELK3_25401928_ChIP-Seq_HUVEC_Human0.82259736
93E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.81656053
94CTCF_27219007_Chip-Seq_ERYTHROID_Human0.81482436
95KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.80627263
96CEBPB_22108803_ChIP-Seq_LS180_Human0.79614206
97ESR1_21235772_ChIP-Seq_MCF-7_Human0.79114611
98ETS1_21867929_ChIP-Seq_TH2_Mouse0.78835483
99CREB1_26743006_Chip-Seq_LNCaP_Human0.78066732
100TP63_22573176_ChIP-Seq_HFKS_Human0.77868308

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis8.44384370
2MP0001666_abnormal_nutrient_absorption4.58909553
3MP0005085_abnormal_gallbladder_physiolo4.17134784
4MP0009379_abnormal_foot_pigmentation3.96281003
5MP0003183_abnormal_peptide_metabolism3.96165844
6MP0002139_abnormal_hepatobiliary_system3.72116237
7MP0004019_abnormal_vitamin_homeostasis3.40320797
8MP0010155_abnormal_intestine_physiology3.29469385
9MP0005365_abnormal_bile_salt3.17543388
10MP0009840_abnormal_foam_cell3.12879801
11MP0004264_abnormal_extraembryonic_tissu2.93618940
12MP0004147_increased_porphyrin_level2.89499925
13MP0010234_abnormal_vibrissa_follicle2.80833799
14MP0003866_abnormal_defecation2.17515370
15MP0005409_darkened_coat_color2.13053155
16MP0001664_abnormal_digestion2.01950900
17MP0000490_abnormal_crypts_of1.99483267
18MP0010352_gastrointestinal_tract_polyps1.92952323
19MP0004858_abnormal_nervous_system1.91625422
20MP0010329_abnormal_lipoprotein_level1.88780268
21MP0005166_decreased_susceptibility_to1.81897903
22MP0001873_stomach_inflammation1.78690767
23MP0009643_abnormal_urine_homeostasis1.71529975
24MP0005332_abnormal_amino_acid1.71404703
25MP0000477_abnormal_intestine_morphology1.56005885
26MP0000678_abnormal_parathyroid_gland1.52799530
27MP0003868_abnormal_feces_composition1.52459626
28MP0004782_abnormal_surfactant_physiolog1.47427308
29MP0000538_abnormal_urinary_bladder1.45303181
30MP0001764_abnormal_homeostasis1.45239860
31MP0003806_abnormal_nucleotide_metabolis1.45042231
32MP0002876_abnormal_thyroid_physiology1.43071586
33MP0003252_abnormal_bile_duct1.41260636
34MP0001663_abnormal_digestive_system1.40086495
35MP0001188_hyperpigmentation1.34718200
36MP0001765_abnormal_ion_homeostasis1.28487491
37MP0001835_abnormal_antigen_presentation1.19069736
38MP0000462_abnormal_digestive_system1.18083201
39MP0003724_increased_susceptibility_to1.17550831
40MP0002822_catalepsy1.17449732
41MP0002136_abnormal_kidney_physiology1.17424544
42MP0005381_digestive/alimentary_phenotyp1.15156670
43MP0001845_abnormal_inflammatory_respons1.12029048
44MP0001501_abnormal_sleep_pattern1.11871599
45MP0003879_abnormal_hair_cell1.10895865
46MP0005636_abnormal_mineral_homeostasis1.10424440
47MP0002118_abnormal_lipid_homeostasis1.07221420
48MP0005451_abnormal_body_composition1.06268634
49MP0003718_maternal_effect1.05606516
50MP0009785_altered_susceptibility_to1.04651076
51MP0001790_abnormal_immune_system1.04611293
52MP0005387_immune_system_phenotype1.04611293
53MP0003436_decreased_susceptibility_to1.04275522
54MP0002166_altered_tumor_susceptibility1.02430666
55MP0004270_analgesia1.01807495
56MP0000465_gastrointestinal_hemorrhage1.00474036
57MP0005670_abnormal_white_adipose0.98366729
58MP0005025_abnormal_response_to0.97861017
59MP0003300_gastrointestinal_ulcer0.97809285
60MP0005448_abnormal_energy_balance0.97691526
61MP0005584_abnormal_enzyme/coenzyme_acti0.96370406
62MP0001756_abnormal_urination0.95486621
63MP0005535_abnormal_body_temperature0.93736487
64MP0003329_amyloid_beta_deposits0.92799894
65MP0000609_abnormal_liver_physiology0.90247675
66MP0003191_abnormal_cellular_cholesterol0.89069061
67MP0002138_abnormal_hepatobiliary_system0.88918646
68MP0003303_peritoneal_inflammation0.88377452
69MP0002796_impaired_skin_barrier0.87576646
70MP0002971_abnormal_brown_adipose0.87439723
71MP0000604_amyloidosis0.87113627
72MP0005671_abnormal_response_to0.84355796
73MP0008469_abnormal_protein_level0.81182010
74MP0000537_abnormal_urethra_morphology0.80524920
75MP0006082_CNS_inflammation0.78815065
76MP0002098_abnormal_vibrissa_morphology0.77643047
77MP0009115_abnormal_fat_cell0.73983620
78MP0009764_decreased_sensitivity_to0.73824106
79MP0000230_abnormal_systemic_arterial0.72435078
80MP0005319_abnormal_enzyme/_coenzyme0.72036839
81MP0000685_abnormal_immune_system0.71230620
82MP0004947_skin_inflammation0.70092663
83MP0009333_abnormal_splenocyte_physiolog0.69576926
84MP0001485_abnormal_pinna_reflex0.68882279
85MP0004043_abnormal_pH_regulation0.67998079
86MP0002148_abnormal_hypersensitivity_rea0.66846076
87MP0000249_abnormal_blood_vessel0.66605518
88MP0001533_abnormal_skeleton_physiology0.66591053
89MP0001800_abnormal_humoral_immune0.65502549
90MP0009642_abnormal_blood_homeostasis0.64147584
91MP0002396_abnormal_hematopoietic_system0.64021726
92MP0002006_tumorigenesis0.63166530
93MP0008004_abnormal_stomach_pH0.62829226
94MP0002896_abnormal_bone_mineralization0.62760839
95MP0001881_abnormal_mammary_gland0.59794773
96MP0005058_abnormal_lysosome_morphology0.59390046
97MP0005000_abnormal_immune_tolerance0.57460827
98MP0005310_abnormal_salivary_gland0.57202410
99MP0005666_abnormal_adipose_tissue0.54530141
100MP0005165_increased_susceptibility_to0.54462101

Predicted human phenotypes

RankGene SetZ-score
1Malnutrition (HP:0004395)7.51434188
2Abnormality of proline metabolism (HP:0010907)6.63218441
3Hydroxyprolinuria (HP:0003080)6.63218441
4Chronic diarrhea (HP:0002028)5.50237261
5Systemic lupus erythematosus (HP:0002725)5.41637281
6Hypobetalipoproteinemia (HP:0003563)4.93568103
7Abnormality of the vitamin B12 metabolism (HP:0004341)4.88915753
8Ileus (HP:0002595)4.72554434
9Abnormality of vitamin B metabolism (HP:0004340)4.56131814
10Fat malabsorption (HP:0002630)4.34389511
11Widely patent fontanelles and sutures (HP:0004492)4.24414821
12Acanthocytosis (HP:0001927)4.12820416
13Confusion (HP:0001289)3.98472873
14Nausea (HP:0002018)3.80396864
15Abnormality of vitamin metabolism (HP:0100508)3.58944359
16Pigmentary retinal degeneration (HP:0001146)3.55711305
17Glycosuria (HP:0003076)3.45598798
18Abnormality of urine glucose concentration (HP:0011016)3.45598798
19Proximal tubulopathy (HP:0000114)3.39151120
20Thin bony cortex (HP:0002753)3.33497446
21Hyperglycinuria (HP:0003108)3.32585541
22Congenital sensorineural hearing impairment (HP:0008527)3.24130138
23Eczematoid dermatitis (HP:0000976)3.22623119
24Wide cranial sutures (HP:0010537)3.21403599
25Decreased circulating renin level (HP:0003351)3.17126753
26Nephrolithiasis (HP:0000787)3.05309544
27Alkalosis (HP:0001948)3.01042162
28Abnormality of monocarboxylic acid metabolism (HP:0010996)2.97687293
29Glomerulonephritis (HP:0000099)2.96249161
30Xanthomatosis (HP:0000991)2.93979892
31Abnormality of serine family amino acid metabolism (HP:0010894)2.92841829
32Abnormality of glycine metabolism (HP:0010895)2.92841829
33Hypophosphatemia (HP:0002148)2.91673747
34Metabolic alkalosis (HP:0200114)2.91065388
35Increased purine levels (HP:0004368)2.89945029
36Hyperuricemia (HP:0002149)2.89945029
37Abdominal distention (HP:0003270)2.88494223
38Steatorrhea (HP:0002570)2.83462002
39Abnormality of complement system (HP:0005339)2.82031362
40Posterior subcapsular cataract (HP:0007787)2.79470863
41Hyperparathyroidism (HP:0000843)2.78042309
42Facial shape deformation (HP:0011334)2.77510752
43Potter facies (HP:0002009)2.77510752
44Villous atrophy (HP:0011473)2.76226687
45Abnormality of small intestinal villus morphology (HP:0011472)2.76226687
46Complement deficiency (HP:0004431)2.68784015
47Hyperammonemia (HP:0001987)2.61337110
48Hyperactive renin-angiotensin system (HP:0000841)2.58724199
49Megaloblastic anemia (HP:0001889)2.53695582
50Nephritis (HP:0000123)2.50761159
51Abnormality of purine metabolism (HP:0004352)2.48505098
52Hemorrhage of the eye (HP:0011885)2.48192725
53Abnormality of renin-angiotensin system (HP:0000847)2.37713649
54Hypotension (HP:0002615)2.36256658
55Abnormal urine phosphate concentration (HP:0012599)2.34404270
56Abnormality of aspartate family amino acid metabolism (HP:0010899)2.34103406
57Hypolipoproteinemia (HP:0010981)2.32590236
58Abnormality of nucleobase metabolism (HP:0010932)2.30824140
59Enlarged epiphyses (HP:0010580)2.30203894
60Cerebral palsy (HP:0100021)2.26268386
61Hyperphosphaturia (HP:0003109)2.26212810
62Pancreatitis (HP:0001733)2.23928620
63Hyperphosphatemia (HP:0002905)2.23559938
64Focal segmental glomerulosclerosis (HP:0000097)2.22848855
65Gingivitis (HP:0000230)2.20934391
66Abnormal glucose tolerance (HP:0001952)2.18415286
67Delayed epiphyseal ossification (HP:0002663)2.17015252
68Abnormality of dicarboxylic acid metabolism (HP:0010995)2.13217212
69Dicarboxylic aciduria (HP:0003215)2.13217212
70Gastrointestinal dysmotility (HP:0002579)2.07830888
71Growth hormone excess (HP:0000845)2.06146317
72Abnormality of the costochondral junction (HP:0000919)2.04639917
73Metabolic acidosis (HP:0001942)2.02414309
74Abnormality of glutamine family amino acid metabolism (HP:0010902)10.0382897
75Protuberant abdomen (HP:0001538)1.99832116
76Subcapsular cataract (HP:0000523)1.99119476
77Right ventricular cardiomyopathy (HP:0011663)1.97697351
78Epidermoid cyst (HP:0200040)1.96002982
79Gastrointestinal stroma tumor (HP:0100723)1.95398054
80Renal tubular acidosis (HP:0001947)1.94013087
81Gout (HP:0001997)1.93674310
82Abnormality of pyrimidine metabolism (HP:0004353)1.92247504
83Abnormality of magnesium homeostasis (HP:0004921)1.87148455
84Irritability (HP:0000737)1.85334693
85Emphysema (HP:0002097)1.84852342
86Multiple lipomas (HP:0001012)1.84465378
87Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.77081925
88Paresthesia (HP:0003401)1.75543074
89Hypoalbuminemia (HP:0003073)1.75472767
90Abnormal albumin level (HP:0012116)1.75472767
91Skin rash (HP:0000988)1.75249666
92Poikilocytosis (HP:0004447)1.74138357
93Symptomatic seizures (HP:0011145)1.73829559
94Hypocalcemia (HP:0002901)1.72636999
95Petechiae (HP:0000967)1.71279926
96Segmental peripheral demyelination/remyelination (HP:0003481)1.70932145
97Pili torti (HP:0003777)1.70543515
98Bone pain (HP:0002653)1.69285522
99Abnormal enzyme/coenzyme activity (HP:0012379)1.68985020
100Abnormality of sulfur amino acid metabolism (HP:0004339)1.68782457

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B7.16419528
2ERN15.15219441
3MST1R4.24946722
4PRKG23.44763679
5RIPK13.40991838
6MAP3K102.97346341
7FGFR42.57582949
8EPHA22.46463022
9TYK22.24627293
10STK392.14337572
11EPHA32.04691444
12EPHB21.97668533
13TESK21.92520448
14MAP4K11.87612610
15OXSR11.85011405
16PTK61.76009358
17EPHB11.63241355
18MAP3K121.47234756
19MET1.46575920
20GRK61.46525008
21DDR21.46270567
22PRPF4B1.39027085
23RIPK41.35805782
24MAP3K21.35519444
25PDK21.31278783
26MAP3K11.28930468
27FGFR31.27788071
28MATK1.22978137
29MYLK1.22584923
30MAP2K21.19675853
31CDC42BPA1.13845962
32STK241.09356121
33TESK11.07904289
34TNIK1.06079399
35MAP3K111.00123782
36NLK0.99421177
37MST40.85257441
38ERBB20.85224701
39JAK10.84802133
40EPHA40.83322836
41PDPK10.83095178
42PIK3CA0.82421010
43TBK10.81870779
44TAOK10.80169792
45IKBKE0.79216507
46CDK190.74628328
47AKT30.72970660
48IRAK10.71782077
49FER0.70689590
50JAK30.69104148
51MAPK110.67004316
52PRKACG0.65055845
53ZAP700.64341492
54CSK0.61805211
55MAP2K60.61606732
56DYRK1B0.61167967
57JAK20.60676180
58LMTK20.60518866
59BMPR20.59099267
60KIT0.58133116
61PDK10.57568127
62PRKCZ0.57113239
63PRKCA0.54949174
64TRIB30.54775049
65PRKAA20.53693599
66PDGFRA0.53081030
67BMX0.52278535
68CSF1R0.50678301
69KSR20.49983322
70MAP3K140.49733529
71RET0.49440297
72SRC0.48722555
73SMG10.46995351
74PIM10.46888324
75BTK0.46880024
76SYK0.45790916
77FYN0.45668182
78PAK40.43152445
79ITK0.41416596
80CAMK2D0.39361762
81ABL20.39286055
82YES10.38901676
83CASK0.38047017
84TGFBR20.37825019
85CDK60.37712653
86IRAK40.37507918
87PRKCD0.36818730
88PTK20.36014680
89LYN0.35192680
90MAP3K30.34815810
91KDR0.33882453
92LCK0.33331905
93CAMK2G0.33320893
94DMPK0.31031191
95CAMK2B0.27597178
96TEC0.27127536
97MAPKAPK20.25381279
98MAP3K80.25039770
99BLK0.23175732
100LRRK20.22404209

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004605.32767720
2Fat digestion and absorption_Homo sapiens_hsa049754.57218847
3Vitamin digestion and absorption_Homo sapiens_hsa049774.18906642
4Renin-angiotensin system_Homo sapiens_hsa046143.95116943
5Arginine biosynthesis_Homo sapiens_hsa002202.48521274
6Mineral absorption_Homo sapiens_hsa049782.47239390
7Protein digestion and absorption_Homo sapiens_hsa049742.42990245
8Fructose and mannose metabolism_Homo sapiens_hsa000512.25362174
9Histidine metabolism_Homo sapiens_hsa003402.17661625
10Caffeine metabolism_Homo sapiens_hsa002322.12972218
11Asthma_Homo sapiens_hsa053102.01336545
12Linoleic acid metabolism_Homo sapiens_hsa005912.00712759
13alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.98615249
14Starch and sucrose metabolism_Homo sapiens_hsa005001.97065532
15Carbohydrate digestion and absorption_Homo sapiens_hsa049731.83488556
16Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.75815948
17Sulfur metabolism_Homo sapiens_hsa009201.74216316
18Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.74032215
19Galactose metabolism_Homo sapiens_hsa000521.73410768
20Pentose and glucuronate interconversions_Homo sapiens_hsa000401.71891496
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.68159642
22Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.66221816
23Chemical carcinogenesis_Homo sapiens_hsa052041.65547160
24PPAR signaling pathway_Homo sapiens_hsa033201.58024420
25Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.54337798
26Retinol metabolism_Homo sapiens_hsa008301.53531876
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.51566822
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.50109902
29Arachidonic acid metabolism_Homo sapiens_hsa005901.48852470
30Allograft rejection_Homo sapiens_hsa053301.47324002
31Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.43663191
32Autoimmune thyroid disease_Homo sapiens_hsa053201.38837759
33Bile secretion_Homo sapiens_hsa049761.37008338
34Graft-versus-host disease_Homo sapiens_hsa053321.32490419
35Arginine and proline metabolism_Homo sapiens_hsa003301.31784983
36Glycerolipid metabolism_Homo sapiens_hsa005611.30232050
37Staphylococcus aureus infection_Homo sapiens_hsa051501.28760990
38Maturity onset diabetes of the young_Homo sapiens_hsa049501.19892906
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.17751352
40Ether lipid metabolism_Homo sapiens_hsa005651.13826265
41Fatty acid degradation_Homo sapiens_hsa000711.11818037
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.09186887
43Type I diabetes mellitus_Homo sapiens_hsa049401.07941439
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99997219
45Tryptophan metabolism_Homo sapiens_hsa003800.99572716
46Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.91091178
47Glutathione metabolism_Homo sapiens_hsa004800.87021879
48Antigen processing and presentation_Homo sapiens_hsa046120.83122963
49Pancreatic secretion_Homo sapiens_hsa049720.81762761
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.79071326
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77743504
52Phenylalanine metabolism_Homo sapiens_hsa003600.76960803
53Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.75964125
54Leishmaniasis_Homo sapiens_hsa051400.71986244
55Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69508721
56Glycerophospholipid metabolism_Homo sapiens_hsa005640.67472456
57Other glycan degradation_Homo sapiens_hsa005110.57542940
58Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56586746
59Sphingolipid metabolism_Homo sapiens_hsa006000.56492103
60Viral myocarditis_Homo sapiens_hsa054160.56155884
61Pertussis_Homo sapiens_hsa051330.46753104
62Fatty acid metabolism_Homo sapiens_hsa012120.43460546
63Pentose phosphate pathway_Homo sapiens_hsa000300.41645477
64Peroxisome_Homo sapiens_hsa041460.40308743
65Renin secretion_Homo sapiens_hsa049240.39692074
66Folate biosynthesis_Homo sapiens_hsa007900.39260086
67Toxoplasmosis_Homo sapiens_hsa051450.36561954
68Thyroid hormone synthesis_Homo sapiens_hsa049180.35230967
69Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.35171566
70Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.34250994
71Fatty acid biosynthesis_Homo sapiens_hsa000610.30782079
72Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.29676741
73Hepatitis C_Homo sapiens_hsa051600.28780776
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.28090993
75Tyrosine metabolism_Homo sapiens_hsa003500.27921099
76Hematopoietic cell lineage_Homo sapiens_hsa046400.27740267
77Sulfur relay system_Homo sapiens_hsa041220.27226742
78Insulin resistance_Homo sapiens_hsa049310.26542343
79Chemokine signaling pathway_Homo sapiens_hsa040620.24019249
80Tuberculosis_Homo sapiens_hsa051520.22583125
81Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.20384279
82Influenza A_Homo sapiens_hsa051640.19502286
83Biosynthesis of amino acids_Homo sapiens_hsa012300.18100136
84Leukocyte transendothelial migration_Homo sapiens_hsa046700.17978614
85Cocaine addiction_Homo sapiens_hsa050300.15711582
86Rheumatoid arthritis_Homo sapiens_hsa053230.15090613
87Carbon metabolism_Homo sapiens_hsa012000.14432258
88Metabolic pathways_Homo sapiens_hsa011000.12780904
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.12748344
90ABC transporters_Homo sapiens_hsa020100.11944373
91African trypanosomiasis_Homo sapiens_hsa051430.10682377
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.09986547
93Primary immunodeficiency_Homo sapiens_hsa053400.09843760
94NF-kappa B signaling pathway_Homo sapiens_hsa040640.09411767
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.08219887
96Tight junction_Homo sapiens_hsa045300.05531261
97Insulin secretion_Homo sapiens_hsa049110.05257560
98Glucagon signaling pathway_Homo sapiens_hsa049220.05180379
99Herpes simplex infection_Homo sapiens_hsa051680.04541100
100GnRH signaling pathway_Homo sapiens_hsa049120.03875885

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