CES2

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: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)7.33756251
2angiotensin maturation (GO:0002003)7.24619347
3regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)6.40220375
4exogenous drug catabolic process (GO:0042738)5.87408414
5cellular glucuronidation (GO:0052695)5.82217535
6fat-soluble vitamin biosynthetic process (GO:0042362)5.80636594
7intestinal absorption (GO:0050892)5.75531769
8drug catabolic process (GO:0042737)5.75081386
9uronic acid metabolic process (GO:0006063)5.61609345
10glucuronate metabolic process (GO:0019585)5.61609345
11urea metabolic process (GO:0019627)5.57745535
12drug metabolic process (GO:0017144)5.56375742
13NADH metabolic process (GO:0006734)5.55289594
14urea cycle (GO:0000050)5.30665065
15nitrogen cycle metabolic process (GO:0071941)5.13518612
16hormone catabolic process (GO:0042447)4.99112214
17regulation of triglyceride catabolic process (GO:0010896)4.93012395
18bile acid and bile salt transport (GO:0015721)4.85425758
19regulation of bile acid biosynthetic process (GO:0070857)4.82464722
20ethanol oxidation (GO:0006069)4.76630448
21very-low-density lipoprotein particle assembly (GO:0034379)4.72138744
22lipoprotein transport (GO:0042953)4.71510190
23regulation of guanylate cyclase activity (GO:0031282)4.66347255
24fructose metabolic process (GO:0006000)4.46810840
25flavonoid metabolic process (GO:0009812)4.44304774
26omega-hydroxylase P450 pathway (GO:0097267)4.32796127
27bile acid metabolic process (GO:0008206)4.24382496
28phospholipid efflux (GO:0033700)4.16496289
29alkaloid metabolic process (GO:0009820)4.12764500
30plasma lipoprotein particle assembly (GO:0034377)4.03462991
31diacylglycerol metabolic process (GO:0046339)4.01080529
32regulation of systemic arterial blood pressure by hormone (GO:0001990)3.98078267
33regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)3.98078267
34endocrine process (GO:0050886)3.98078267
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.96573864
36positive regulation of lipoprotein lipase activity (GO:0051006)3.96155753
37positive regulation of triglyceride lipase activity (GO:0061365)3.96155753
38regulation of cholesterol esterification (GO:0010872)3.89451493
39ethanol metabolic process (GO:0006067)3.87596639
40renal system process involved in regulation of blood volume (GO:0001977)3.81084860
41arginine metabolic process (GO:0006525)3.76597515
42triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.72847934
43positive regulation of lipid catabolic process (GO:0050996)3.72352034
44protein-lipid complex assembly (GO:0065005)3.70243845
45regulation of systemic arterial blood pressure (GO:0003073)3.69548488
46protein-lipid complex remodeling (GO:0034368)3.62808106
47macromolecular complex remodeling (GO:0034367)3.62808106
48plasma lipoprotein particle remodeling (GO:0034369)3.62808106
49phenylpropanoid metabolic process (GO:0009698)3.60902399
50negative regulation of fibrinolysis (GO:0051918)3.59460531
51lipoprotein metabolic process (GO:0042157)3.58038672
52regulation of protein activation cascade (GO:2000257)3.57220540
53high-density lipoprotein particle remodeling (GO:0034375)3.53629162
54negative regulation of sterol transport (GO:0032372)3.53231495
55negative regulation of cholesterol transport (GO:0032375)3.53231495
56drug transmembrane transport (GO:0006855)3.48312702
57regulation of fibrinolysis (GO:0051917)3.48089798
58regulation of cholesterol homeostasis (GO:2000188)3.46993887
59drug transport (GO:0015893)3.45649539
60complement activation, alternative pathway (GO:0006957)3.44776092
61regulation of complement activation (GO:0030449)3.42317152
62complement activation, classical pathway (GO:0006958)3.41930585
63positive regulation of guanylate cyclase activity (GO:0031284)3.36164147
64glutamine family amino acid biosynthetic process (GO:0009084)3.35203278
65glyoxylate metabolic process (GO:0046487)3.35099568
66virion attachment to host cell (GO:0019062)3.34708797
67adhesion of symbiont to host cell (GO:0044650)3.34708797
68cholesterol efflux (GO:0033344)3.33414435
69maintenance of gastrointestinal epithelium (GO:0030277)3.30654788
70renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.29579864
71plasma lipoprotein particle organization (GO:0071827)3.24143853
72regulation of cellular extravasation (GO:0002691)3.20634726
73L-phenylalanine metabolic process (GO:0006558)3.14597042
74erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.14597042
75L-phenylalanine catabolic process (GO:0006559)3.13499002
76erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.13499002
77receptor guanylyl cyclase signaling pathway (GO:0007168)3.12423087
78adhesion of symbiont to host (GO:0044406)3.11775107
79protein-lipid complex subunit organization (GO:0071825)3.10831540
80reverse cholesterol transport (GO:0043691)3.09116074
81proline metabolic process (GO:0006560)3.09072248
82cholesterol homeostasis (GO:0042632)3.06430630
83glycosphingolipid catabolic process (GO:0046479)3.06089297
84peptide hormone processing (GO:0016486)3.05260282
85vitamin biosynthetic process (GO:0009110)3.04907715
86complement activation (GO:0006956)3.04502663
87negative regulation of blood coagulation (GO:0030195)3.03379446
88negative regulation of hemostasis (GO:1900047)3.03379446
89primary alcohol catabolic process (GO:0034310)3.02610846
90regulation of cholesterol metabolic process (GO:0090181)3.02097913
91glycolipid catabolic process (GO:0019377)3.02056366
92sterol homeostasis (GO:0055092)3.00780122
93peptide catabolic process (GO:0043171)2.98754289
94positive regulation of fatty acid biosynthetic process (GO:0045723)2.94403874
95triglyceride homeostasis (GO:0070328)2.93373526
96acylglycerol homeostasis (GO:0055090)2.93373526
97protein carboxylation (GO:0018214)2.92876862
98peptidyl-glutamic acid carboxylation (GO:0017187)2.92876862
99protein activation cascade (GO:0072376)2.92770680
100heme transport (GO:0015886)2.90511679

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.05661319
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.00911445
3CDX2_20551321_ChIP-Seq_CACO-2_Human3.86959594
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.77600880
5PPARA_22158963_ChIP-Seq_LIVER_Mouse3.59496026
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.25284448
7TP63_17297297_ChIP-ChIP_HaCaT_Human3.14681398
8EGR1_23403033_ChIP-Seq_LIVER_Mouse3.10935513
9FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.81319002
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.56871730
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.37087939
12SOX2_27498859_Chip-Seq_STOMACH_Mouse2.32487144
13THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.18162654
14TRIM28_21343339_ChIP-Seq_HEK293_Human2.12405135
15GATA4_25053715_ChIP-Seq_YYC3_Human2.10911520
16NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.06346157
17LXR_22292898_ChIP-Seq_THP-1_Human2.06240570
18* GATA6_25053715_ChIP-Seq_YYC3_Human1.88040515
19SOX2_20726797_ChIP-Seq_SW620_Human1.79805047
20RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.74536093
21CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.74441435
22RARG_19884340_ChIP-ChIP_MEFs_Mouse1.69799975
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.66498997
24CLOCK_20551151_ChIP-Seq_293T_Human1.63310098
25IRF8_22096565_ChIP-ChIP_GC-B_Human1.59064059
26PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.55113897
27STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.54229814
28HNF4A_19822575_ChIP-Seq_HepG2_Human1.54080587
29NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.53265467
30* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.52967846
31FOXA2_19822575_ChIP-Seq_HepG2_Human1.52203589
32RACK7_27058665_Chip-Seq_MCF-7_Human1.50040862
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.48662419
34BP1_19119308_ChIP-ChIP_Hs578T_Human1.45504160
35CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.39770621
36FOXO3_23340844_ChIP-Seq_DLD1_Human1.36506289
37CDX2_19796622_ChIP-Seq_MESCs_Mouse1.36165635
38SRY_22984422_ChIP-ChIP_TESTIS_Rat1.29661362
39FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.29231585
40* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.26839268
41BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.24189153
42SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.23998610
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.23647192
44* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.23295916
45ESR1_21235772_ChIP-Seq_MCF-7_Human1.22628080
46GATA1_22025678_ChIP-Seq_K562_Human1.22205916
47DNAJC2_21179169_ChIP-ChIP_NT2_Human1.20799778
48TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.20617301
49PPAR_26484153_Chip-Seq_NCI-H1993_Human1.20544618
50ZNF263_19887448_ChIP-Seq_K562_Human1.20447981
51SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20361908
52* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.18857810
53TET1_21451524_ChIP-Seq_MESCs_Mouse1.17793864
54CTCF_27219007_Chip-Seq_Bcells_Human1.16642739
55TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13423787
56SA1_27219007_Chip-Seq_Bcells_Human1.11313294
57KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10946978
58BCOR_27268052_Chip-Seq_Bcells_Human1.10014664
59BCL6_27268052_Chip-Seq_Bcells_Human1.08484670
60PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.08448178
61ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.08367787
62NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.08243886
63ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.07121106
64TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.05534772
65ERG_21242973_ChIP-ChIP_JURKAT_Human1.03269225
66TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02617362
67JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.02028282
68ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02005354
69ELK3_25401928_ChIP-Seq_HUVEC_Human0.99739404
70EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97239627
71TCF4_18268006_ChIP-ChIP_LS174T_Human0.96938834
72DROSHA_22980978_ChIP-Seq_HELA_Human0.96937249
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94214690
74RUNX1_27514584_Chip-Seq_MCF-7_Human0.93676507
75KLF5_25053715_ChIP-Seq_YYC3_Human0.93071822
76CREB1_26743006_Chip-Seq_LNCaP_Human0.92649796
77CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92485519
78FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.92224212
79TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.90838077
80TP63_22573176_ChIP-Seq_HFKS_Human0.89934412
81CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89656837
82* FOXA1_25552417_ChIP-Seq_VCAP_Human0.89217609
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88765254
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.88559183
85RAD21_21589869_ChIP-Seq_MESCs_Mouse0.88480009
86SMC4_20622854_ChIP-Seq_HELA_Human0.87118094
87UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.86920405
88GATA1_19941826_ChIP-Seq_K562_Human0.86734928
89SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.85041833
90GATA2_19941826_ChIP-Seq_K562_Human0.84378006
91P68_20966046_ChIP-Seq_HELA_Human0.83129451
92PHF8_20622854_ChIP-Seq_HELA_Human0.80090908
93GATA1_19941827_ChIP-Seq_MEL_Mouse0.78207904
94E2F1_20622854_ChIP-Seq_HELA_Human0.77910199
95RARA_24833708_ChIP-Seq_LIVER_Mouse0.77861191
96GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.77587413
97SA1_27219007_Chip-Seq_ERYTHROID_Human0.77306075
98SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76624928
99CEBPB_22108803_ChIP-Seq_LS180_Human0.76008318
100CTCF_27219007_Chip-Seq_ERYTHROID_Human0.73681965

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis8.25701611
2MP0002139_abnormal_hepatobiliary_system6.98224160
3MP0005085_abnormal_gallbladder_physiolo5.31964032
4MP0005365_abnormal_bile_salt4.80770376
5MP0001666_abnormal_nutrient_absorption4.46060019
6MP0009840_abnormal_foam_cell3.68792323
7MP0003183_abnormal_peptide_metabolism2.90707524
8MP0004019_abnormal_vitamin_homeostasis2.86899735
9MP0003868_abnormal_feces_composition2.68984144
10MP0010329_abnormal_lipoprotein_level2.55544940
11MP0010234_abnormal_vibrissa_follicle2.48892303
12MP0003252_abnormal_bile_duct2.46729095
13MP0008875_abnormal_xenobiotic_pharmacok2.43077166
14MP0004264_abnormal_extraembryonic_tissu2.31963130
15MP0009379_abnormal_foot_pigmentation2.26605905
16MP0005332_abnormal_amino_acid2.14958066
17MP0010155_abnormal_intestine_physiology1.97988869
18MP0005409_darkened_coat_color1.94477661
19MP0002138_abnormal_hepatobiliary_system1.88731525
20MP0004147_increased_porphyrin_level1.81984467
21MP0009643_abnormal_urine_homeostasis1.73156188
22MP0002876_abnormal_thyroid_physiology1.67384539
23MP0003191_abnormal_cellular_cholesterol1.59145655
24MP0005451_abnormal_body_composition1.58916367
25MP0005670_abnormal_white_adipose1.56802062
26MP0003806_abnormal_nucleotide_metabolis1.53884819
27MP0002118_abnormal_lipid_homeostasis1.52931429
28MP0003866_abnormal_defecation1.48487874
29MP0001764_abnormal_homeostasis1.46177854
30MP0000609_abnormal_liver_physiology1.44527928
31MP0001664_abnormal_digestion1.43202048
32MP0003195_calcinosis1.40652760
33MP0004043_abnormal_pH_regulation1.34371655
34MP0003879_abnormal_hair_cell1.28345040
35MP0005636_abnormal_mineral_homeostasis1.25450764
36MP0001765_abnormal_ion_homeostasis1.21351674
37MP0005166_decreased_susceptibility_to1.19592232
38MP0000678_abnormal_parathyroid_gland1.18340786
39MP0000477_abnormal_intestine_morphology1.11960597
40MP0000490_abnormal_crypts_of1.08202719
41MP0004858_abnormal_nervous_system1.07845947
42MP0004782_abnormal_surfactant_physiolog1.06883113
43MP0002971_abnormal_brown_adipose1.06535658
44MP0002136_abnormal_kidney_physiology1.04623499
45MP0005584_abnormal_enzyme/coenzyme_acti1.03747537
46MP0001663_abnormal_digestive_system1.02025768
47MP0005319_abnormal_enzyme/_coenzyme1.01419737
48MP0010352_gastrointestinal_tract_polyps0.98614676
49MP0000538_abnormal_urinary_bladder0.97204105
50MP0005058_abnormal_lysosome_morphology0.97094407
51MP0000462_abnormal_digestive_system0.93605023
52MP0000604_amyloidosis0.92660367
53MP0002796_impaired_skin_barrier0.89655673
54MP0005381_digestive/alimentary_phenotyp0.89539414
55MP0001756_abnormal_urination0.88571224
56MP0003329_amyloid_beta_deposits0.88293926
57MP0001873_stomach_inflammation0.87218306
58MP0002822_catalepsy0.86115132
59MP0005535_abnormal_body_temperature0.83200725
60MP0005448_abnormal_energy_balance0.81526607
61MP0009642_abnormal_blood_homeostasis0.79933332
62MP0008469_abnormal_protein_level0.77678898
63MP0002098_abnormal_vibrissa_morphology0.77400149
64MP0003300_gastrointestinal_ulcer0.73631358
65MP0009115_abnormal_fat_cell0.72811999
66MP0009785_altered_susceptibility_to0.68450194
67MP0001845_abnormal_inflammatory_respons0.67578599
68MP0000566_synostosis0.67290819
69MP0005666_abnormal_adipose_tissue0.66077006
70MP0003436_decreased_susceptibility_to0.65021538
71MP0000249_abnormal_blood_vessel0.62679102
72MP0003705_abnormal_hypodermis_morpholog0.61102550
73MP0004270_analgesia0.60492609
74MP0005501_abnormal_skin_physiology0.58799038
75MP0001188_hyperpigmentation0.57944149
76MP0009764_decreased_sensitivity_to0.57300636
77MP0005334_abnormal_fat_pad0.56535238
78MP0000230_abnormal_systemic_arterial0.56282285
79MP0000598_abnormal_liver_morphology0.56202277
80MP0002078_abnormal_glucose_homeostasis0.56051580
81MP0003638_abnormal_response/metabolism_0.55245057
82MP0000467_abnormal_esophagus_morphology0.54332064
83MP0001501_abnormal_sleep_pattern0.53618198
84MP0003303_peritoneal_inflammation0.50896972
85MP0005023_abnormal_wound_healing0.50794276
86MP0005025_abnormal_response_to0.49668674
87MP0003718_maternal_effect0.47648382
88MP0004947_skin_inflammation0.47122571
89MP0002896_abnormal_bone_mineralization0.46732692
90MP0003953_abnormal_hormone_level0.45885378
91MP0005376_homeostasis/metabolism_phenot0.45407652
92MP0008260_abnormal_autophagy0.45090457
93MP0000465_gastrointestinal_hemorrhage0.44639855
94MP0008872_abnormal_physiological_respon0.44471040
95MP0002089_abnormal_postnatal_growth/wei0.43868859
96MP0001849_ear_inflammation0.42377153
97MP0009763_increased_sensitivity_to0.41475408
98MP0006138_congestive_heart_failure0.40675796
99MP0002166_altered_tumor_susceptibility0.40030754
100MP0002249_abnormal_larynx_morphology0.39677291

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glutamine family amino acid metabolism (HP:0010902)8.42613367
2Abnormality of monocarboxylic acid metabolism (HP:0010996)6.40962847
3Hypobetalipoproteinemia (HP:0003563)6.28754698
4Hydroxyprolinuria (HP:0003080)5.68197533
5Abnormality of proline metabolism (HP:0010907)5.68197533
6Systemic lupus erythematosus (HP:0002725)5.44200513
7Malnutrition (HP:0004395)5.33593099
8Complement deficiency (HP:0004431)4.95324752
9Xanthomatosis (HP:0000991)4.43419655
10Abnormality of complement system (HP:0005339)4.41498832
11Fat malabsorption (HP:0002630)4.40781321
12Deep venous thrombosis (HP:0002625)4.35732463
13Conjugated hyperbilirubinemia (HP:0002908)3.74188763
14Ileus (HP:0002595)3.64082218
15Widely patent fontanelles and sutures (HP:0004492)3.57401954
16Hypolipoproteinemia (HP:0010981)3.56278021
17Glomerulonephritis (HP:0000099)3.55365055
18Hemorrhage of the eye (HP:0011885)3.52691595
19Hyperglycinuria (HP:0003108)3.40004650
20Abnormality of vitamin metabolism (HP:0100508)3.36804718
21Abnormality of the vitamin B12 metabolism (HP:0004341)3.29745149
22Chronic diarrhea (HP:0002028)3.26543392
23Acanthocytosis (HP:0001927)3.24686876
24Abnormality of aromatic amino acid family metabolism (HP:0004338)3.21213144
25Prolonged partial thromboplastin time (HP:0003645)3.17409022
26Abnormality of glycine metabolism (HP:0010895)3.14575592
27Abnormality of serine family amino acid metabolism (HP:0010894)3.14575592
28Intrahepatic cholestasis (HP:0001406)3.11300489
29Hyperammonemia (HP:0001987)3.10150195
30Confusion (HP:0001289)3.08350597
31Hyperactive renin-angiotensin system (HP:0000841)3.07586218
32Abnormality of vitamin B metabolism (HP:0004340)3.06606546
33Alkalosis (HP:0001948)3.06597995
34Hyperlipoproteinemia (HP:0010980)2.96730010
35Steatorrhea (HP:0002570)2.96013716
36Glycosuria (HP:0003076)2.95255487
37Abnormality of urine glucose concentration (HP:0011016)2.95255487
38Abdominal distention (HP:0003270)2.94256932
39Thin bony cortex (HP:0002753)2.88813776
40Nephritis (HP:0000123)2.86814065
41Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.82532842
42Decreased circulating renin level (HP:0003351)2.81059058
43Abnormality of pyrimidine metabolism (HP:0004353)2.72231941
44Metabolic alkalosis (HP:0200114)2.72067038
45Epidermoid cyst (HP:0200040)2.68596775
46Nephrolithiasis (HP:0000787)2.68525737
47Proximal tubulopathy (HP:0000114)2.65708257
48Wide cranial sutures (HP:0010537)2.65175152
49Hypophosphatemia (HP:0002148)2.59548615
50Pigmentary retinal degeneration (HP:0001146)2.55354502
51Right ventricular cardiomyopathy (HP:0011663)2.50688892
52Abnormality of nucleobase metabolism (HP:0010932)2.49152804
53Nausea (HP:0002018)2.46486269
54Flat acetabular roof (HP:0003180)2.45682069
55Facial shape deformation (HP:0011334)2.39768212
56Potter facies (HP:0002009)2.39768212
57Abnormality of purine metabolism (HP:0004352)2.38574866
58Focal segmental glomerulosclerosis (HP:0000097)2.37369768
59Joint hemorrhage (HP:0005261)2.36679410
60Increased purine levels (HP:0004368)2.34243102
61Hyperuricemia (HP:0002149)2.34243102
62Abnormality of renin-angiotensin system (HP:0000847)2.32749606
63Rickets (HP:0002748)2.30565307
64Abnormal urine phosphate concentration (HP:0012599)2.28396536
65Hyperphosphaturia (HP:0003109)2.24983865
66Metabolic acidosis (HP:0001942)2.23141064
67Vascular calcification (HP:0004934)2.19609182
68Abnormality of aspartate family amino acid metabolism (HP:0010899)2.15877636
69Protuberant abdomen (HP:0001538)2.10345060
70Congenital sensorineural hearing impairment (HP:0008527)2.09078233
71Hypotension (HP:0002615)2.06229340
72Renal tubular acidosis (HP:0001947)2.06154598
73Hyperparathyroidism (HP:0000843)2.05656305
74Hypercholesterolemia (HP:0003124)2.01603722
75Gout (HP:0001997)2.01141343
76Delayed CNS myelination (HP:0002188)2.01138352
77Irritability (HP:0000737)2.00485178
78Abnormal enzyme/coenzyme activity (HP:0012379)2.00014915
79Abnormality of alkaline phosphatase activity (HP:0004379)1.98106035
80Cerebral palsy (HP:0100021)1.96571595
81Abnormality of small intestinal villus morphology (HP:0011472)1.94018671
82Villous atrophy (HP:0011473)1.94018671
83Pancreatitis (HP:0001733)1.94003452
84Cardiovascular calcification (HP:0011915)1.93915090
85Megaloblastic anemia (HP:0001889)1.91818255
86Glomerulosclerosis (HP:0000096)1.90677631
87Skin nodule (HP:0200036)1.90239675
88Elevated alkaline phosphatase (HP:0003155)1.87741657
89Abnormal tarsal ossification (HP:0008369)1.87177271
90Dicarboxylic aciduria (HP:0003215)1.85617795
91Abnormality of dicarboxylic acid metabolism (HP:0010995)1.85617795
92Poikilocytosis (HP:0004447)1.85329545
93Abnormality of sulfur amino acid metabolism (HP:0004339)1.84089122
94Eczematoid dermatitis (HP:0000976)1.82222383
95Recurrent gram-negative bacterial infections (HP:0005420)1.79613110
96Generalized aminoaciduria (HP:0002909)1.79292631
97Abnormality of the common coagulation pathway (HP:0010990)1.78528585
98Amyloidosis (HP:0011034)1.76189095
99Delayed epiphyseal ossification (HP:0002663)1.75865849
100Neonatal onset (HP:0003623)1.73281577

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B5.12634770
2RIPK15.05720525
3ERN14.90203875
4MST1R4.34107331
5EPHA23.36750691
6PRPF4B2.99937624
7FGFR42.55374166
8PRKG22.52539486
9LMTK22.29832359
10EPHA31.99280470
11TRIB31.93270150
12EPHB21.80253229
13PIK3CA1.70484552
14EPHB11.69969760
15MET1.64372804
16MAP3K101.55673766
17PTK61.54116918
18MAP3K21.46817442
19TYK21.46544330
20DDR21.32173794
21STK391.31520380
22ICK1.24785430
23TESK21.24406972
24SIK11.23538425
25MYLK1.17796238
26MAP3K11.17514846
27PDPK11.16039999
28FGFR31.15083543
29MAPK111.10751045
30MAP2K21.07615676
31GRK61.03903256
32DYRK1B1.02064197
33MAP3K121.01682259
34OXSR11.00801045
35TESK11.00751752
36EPHA40.99646001
37TAOK20.98481176
38CDC42BPA0.97819001
39MAP3K110.93317262
40IRAK30.92550246
41PRKAA20.90409154
42PDK20.90027615
43TAOK10.85725703
44MAP3K30.83749816
45EEF2K0.82012374
46ERBB20.81886595
47MAP4K10.80873009
48PDGFRA0.80106606
49STK240.79853943
50TBK10.79143810
51PRKACG0.78520046
52ABL20.78073181
53MATK0.77262375
54MAP2K60.76286053
55PDK10.72185285
56AKT30.71926114
57MAPKAPK30.71399975
58PTK20.70980086
59RET0.68796247
60KSR20.65357017
61SMG10.64635759
62RIPK40.62630486
63PRKCZ0.59859708
64ZAP700.59107991
65FER0.58997965
66PIM20.56736081
67JAK10.52617645
68RPS6KA20.51197575
69SRC0.50044146
70PKN20.44969391
71PRKCA0.44067570
72PAK40.43923338
73PRKD20.40517160
74CAMK2D0.38062391
75JAK20.37967759
76CDK60.36666246
77MAP3K60.36511350
78CSF1R0.35444932
79PRKAA10.35423742
80MAPK70.35339973
81FYN0.35268012
82PRKCD0.33829629
83CASK0.32884068
84NLK0.32714787
85CAMK2G0.31946579
86CSK0.29775978
87DMPK0.29346007
88IGF1R0.27957839
89TGFBR20.27055410
90MAPK120.26022008
91IRAK10.24436427
92MAP2K40.20878964
93NTRK10.20710525
94MAPKAPK20.20695935
95TNIK0.19845414
96MAP3K70.18482651
97MAP2K10.18407311
98BMX0.18220129
99RPS6KC10.17981608
100RPS6KL10.17981608

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004604.21337347
2Caffeine metabolism_Homo sapiens_hsa002323.39516700
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.19470412
4Fat digestion and absorption_Homo sapiens_hsa049753.19161353
5Vitamin digestion and absorption_Homo sapiens_hsa049772.71467742
6Pentose and glucuronate interconversions_Homo sapiens_hsa000402.70315954
7Retinol metabolism_Homo sapiens_hsa008302.68473031
8Arginine biosynthesis_Homo sapiens_hsa002202.68197198
9Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.68182795
10Renin-angiotensin system_Homo sapiens_hsa046142.53396467
11Chemical carcinogenesis_Homo sapiens_hsa052042.48027523
12Histidine metabolism_Homo sapiens_hsa003402.42778895
13Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.41266801
14Starch and sucrose metabolism_Homo sapiens_hsa005002.24201216
15Steroid hormone biosynthesis_Homo sapiens_hsa001402.18203838
16Bile secretion_Homo sapiens_hsa049762.09299193
17* Drug metabolism - other enzymes_Homo sapiens_hsa009832.08886689
18Fatty acid degradation_Homo sapiens_hsa000711.96486425
19PPAR signaling pathway_Homo sapiens_hsa033201.93324861
20Primary bile acid biosynthesis_Homo sapiens_hsa001201.90766894
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.89026634
22Phenylalanine metabolism_Homo sapiens_hsa003601.87872774
23Complement and coagulation cascades_Homo sapiens_hsa046101.77801644
24Linoleic acid metabolism_Homo sapiens_hsa005911.75120524
25Mineral absorption_Homo sapiens_hsa049781.71089936
26Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.66105368
27Sulfur metabolism_Homo sapiens_hsa009201.66036375
28Fructose and mannose metabolism_Homo sapiens_hsa000511.62014539
29Tryptophan metabolism_Homo sapiens_hsa003801.60204821
30Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.50986468
31Protein digestion and absorption_Homo sapiens_hsa049741.44533947
32Arginine and proline metabolism_Homo sapiens_hsa003301.41750339
33Tyrosine metabolism_Homo sapiens_hsa003501.36580955
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.33794135
35Galactose metabolism_Homo sapiens_hsa000521.29820938
36Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.27447766
37Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.26303929
38Arachidonic acid metabolism_Homo sapiens_hsa005901.23894869
39Carbohydrate digestion and absorption_Homo sapiens_hsa049731.16387015
40Maturity onset diabetes of the young_Homo sapiens_hsa049501.14385286
41alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.10169437
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.06412783
43Glycerolipid metabolism_Homo sapiens_hsa005611.05607418
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.01269529
45Butanoate metabolism_Homo sapiens_hsa006500.98310011
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97500947
47Staphylococcus aureus infection_Homo sapiens_hsa051500.94374826
48Peroxisome_Homo sapiens_hsa041460.89591862
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.89146799
50Fatty acid metabolism_Homo sapiens_hsa012120.80755312
51Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.80218331
52Other glycan degradation_Homo sapiens_hsa005110.78576630
53Sulfur relay system_Homo sapiens_hsa041220.75430820
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.70936335
55Biosynthesis of amino acids_Homo sapiens_hsa012300.69071659
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63714959
57Pyruvate metabolism_Homo sapiens_hsa006200.61171034
58Carbon metabolism_Homo sapiens_hsa012000.60035075
59ABC transporters_Homo sapiens_hsa020100.58156058
60beta-Alanine metabolism_Homo sapiens_hsa004100.55170756
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53689381
62Sphingolipid metabolism_Homo sapiens_hsa006000.50696716
63Glutathione metabolism_Homo sapiens_hsa004800.49019599
64Insulin resistance_Homo sapiens_hsa049310.46547882
65Prion diseases_Homo sapiens_hsa050200.46397645
66Ether lipid metabolism_Homo sapiens_hsa005650.42568585
67Pancreatic secretion_Homo sapiens_hsa049720.40710894
68Pentose phosphate pathway_Homo sapiens_hsa000300.39977992
69Adipocytokine signaling pathway_Homo sapiens_hsa049200.39331777
70Glycerophospholipid metabolism_Homo sapiens_hsa005640.36929786
71Fatty acid biosynthesis_Homo sapiens_hsa000610.36592520
72Propanoate metabolism_Homo sapiens_hsa006400.32404590
73Pertussis_Homo sapiens_hsa051330.30082492
74Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.29869528
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29594705
76Metabolic pathways_Homo sapiens_hsa011000.28077396
77Vitamin B6 metabolism_Homo sapiens_hsa007500.26481747
78Intestinal immune network for IgA production_Homo sapiens_hsa046720.26424243
79Folate biosynthesis_Homo sapiens_hsa007900.22108550
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.20422053
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.19993902
82Asthma_Homo sapiens_hsa053100.19745857
83Glucagon signaling pathway_Homo sapiens_hsa049220.19353555
84Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.16590949
85Thyroid hormone synthesis_Homo sapiens_hsa049180.15692226
86Renin secretion_Homo sapiens_hsa049240.15350099
87Nitrogen metabolism_Homo sapiens_hsa009100.13995239
88Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.13856984
89Cysteine and methionine metabolism_Homo sapiens_hsa002700.12786730
90Hepatitis C_Homo sapiens_hsa051600.11556121
91Fatty acid elongation_Homo sapiens_hsa000620.11488342
92AMPK signaling pathway_Homo sapiens_hsa041520.11482750
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.07449900
94Allograft rejection_Homo sapiens_hsa053300.07298885
95Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.06469151
96Autoimmune thyroid disease_Homo sapiens_hsa053200.05936595
97Lysine degradation_Homo sapiens_hsa003100.02714566
98Amoebiasis_Homo sapiens_hsa051460.01267999
99Graft-versus-host disease_Homo sapiens_hsa05332-0.0050463
100Cocaine addiction_Homo sapiens_hsa05030-0.0009292

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