UGT2B17

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 uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1angiotensin maturation (GO:0002003)8.70619252
2regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)6.80843530
3intestinal absorption (GO:0050892)6.76324318
4regulation of guanylate cyclase activity (GO:0031282)6.75725127
5NADH metabolic process (GO:0006734)5.77940330
6positive regulation of respiratory burst (GO:0060267)5.65667183
7regulation of cellular extravasation (GO:0002691)5.47198833
8epoxygenase P450 pathway (GO:0019373)4.98018829
9regulation of systemic arterial blood pressure by hormone (GO:0001990)4.90446942
10regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.90446942
11endocrine process (GO:0050886)4.90446942
12antibacterial humoral response (GO:0019731)4.83297545
13positive regulation of guanylate cyclase activity (GO:0031284)4.78388243
14antimicrobial humoral response (GO:0019730)4.68146467
15fat-soluble vitamin biosynthetic process (GO:0042362)4.62459794
16positive regulation of pseudopodium assembly (GO:0031274)4.58465252
17lipoprotein transport (GO:0042953)4.56076312
18maintenance of gastrointestinal epithelium (GO:0030277)4.56006829
19renal system process involved in regulation of blood volume (GO:0001977)4.52378612
20receptor guanylyl cyclase signaling pathway (GO:0007168)4.50926765
21glomerular filtration (GO:0003094)4.45901715
22bile acid and bile salt transport (GO:0015721)4.43318399
23regulation of systemic arterial blood pressure (GO:0003073)4.38391318
24sulfate transmembrane transport (GO:1902358)4.38215452
25urea cycle (GO:0000050)4.37403706
26* cellular glucuronidation (GO:0052695)4.30613662
27regulation of vitamin metabolic process (GO:0030656)4.28308288
28regulation of bile acid biosynthetic process (GO:0070857)4.26388397
29* uronic acid metabolic process (GO:0006063)4.24197237
30* glucuronate metabolic process (GO:0019585)4.24197237
31urea metabolic process (GO:0019627)4.14804098
32regulation of cGMP biosynthetic process (GO:0030826)4.11451305
33regulation of pseudopodium assembly (GO:0031272)4.10301302
34flavonoid metabolic process (GO:0009812)4.07856807
35diacylglycerol metabolic process (GO:0046339)4.06727409
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.06638625
37renal filtration (GO:0097205)4.03118413
38transcytosis (GO:0045056)4.00051768
39hormone catabolic process (GO:0042447)3.98524346
40antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.93129352
41regulation of respiratory burst (GO:0060263)3.92403525
42ethanol oxidation (GO:0006069)3.87412981
43nitrogen cycle metabolic process (GO:0071941)3.84058648
44positive regulation of glycoprotein biosynthetic process (GO:0010560)3.83989635
45fructose metabolic process (GO:0006000)3.82807072
46antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.77770242
47oligosaccharide biosynthetic process (GO:0009312)3.77407055
48drug metabolic process (GO:0017144)3.73429571
49nucleoside diphosphate biosynthetic process (GO:0009133)3.69895908
50auditory receptor cell differentiation (GO:0042491)3.61813679
51positive regulation of glycoprotein metabolic process (GO:1903020)3.58886655
52virion attachment to host cell (GO:0019062)3.58697642
53adhesion of symbiont to host cell (GO:0044650)3.58697642
54regulation of cholesterol homeostasis (GO:2000188)3.58199789
55antigen processing and presentation of endogenous antigen (GO:0019883)3.56787078
56sulfate transport (GO:0008272)3.52044823
57bundle of His cell to Purkinje myocyte communication (GO:0086069)3.51406554
58peptide hormone processing (GO:0016486)3.48624166
59cGMP-mediated signaling (GO:0019934)3.44392386
60regulation of cGMP metabolic process (GO:0030823)3.42706813
61glycosphingolipid catabolic process (GO:0046479)3.41989113
62peptide catabolic process (GO:0043171)3.41193076
63alkaloid metabolic process (GO:0009820)3.41051617
64digestive system process (GO:0022600)3.39188189
65very-low-density lipoprotein particle assembly (GO:0034379)3.36822062
66glycolipid catabolic process (GO:0019377)3.35110526
67O-glycan processing (GO:0016266)3.35073266
68positive regulation of fatty acid beta-oxidation (GO:0032000)3.34012988
69arginine metabolic process (GO:0006525)3.33757673
70epithelial structure maintenance (GO:0010669)3.30296885
71calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.28252856
72glucocorticoid biosynthetic process (GO:0006704)3.27329840
73complement activation, classical pathway (GO:0006958)3.24131059
74GDP-mannose metabolic process (GO:0019673)3.23867042
75actin filament depolymerization (GO:0030042)3.20858598
76digestion (GO:0007586)3.20570158
77renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.18071274
78phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.15375660
79positive regulation of Cdc42 GTPase activity (GO:0043089)3.11470721
80eosinophil chemotaxis (GO:0048245)3.08565916
81thrombin receptor signaling pathway (GO:0070493)3.07340552
82vitamin transmembrane transport (GO:0035461)3.04468989
83drug transmembrane transport (GO:0006855)3.04379870
84adhesion of symbiont to host (GO:0044406)3.04252958
85drug transport (GO:0015893)3.01802669
86bile acid metabolic process (GO:0008206)3.01728859
87sexual reproduction (GO:0019953)3.00109736
88sphingomyelin metabolic process (GO:0006684)2.98797047
89midgut development (GO:0007494)2.98635487
90ethanol metabolic process (GO:0006067)2.98232111
91sulfur compound transport (GO:0072348)2.97276006
923-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.94864384
93purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.94864384
94positive regulation of lipid catabolic process (GO:0050996)2.93222464
95labyrinthine layer development (GO:0060711)2.88072869
96glutamine family amino acid biosynthetic process (GO:0009084)2.85731981
97plasma lipoprotein particle assembly (GO:0034377)2.83838031
98glycerol metabolic process (GO:0006071)2.79650280
99sodium ion homeostasis (GO:0055078)2.79559841
100drug catabolic process (GO:0042737)2.78710314

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CDX2_20551321_ChIP-Seq_CACO-2_Human5.63512358
2IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.20320333
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.52043867
4SOX2_27498859_Chip-Seq_STOMACH_Mouse3.40559598
5IRF8_22096565_ChIP-ChIP_GC-B_Human2.99513451
6GATA4_25053715_ChIP-Seq_YYC3_Human2.84836696
7GATA6_25053715_ChIP-Seq_YYC3_Human2.75622849
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.73902862
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.63533273
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.62704125
11SOX2_20726797_ChIP-Seq_SW620_Human2.49278253
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.44685118
13PPARA_22158963_ChIP-Seq_LIVER_Mouse2.42847054
14RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.28534000
15STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.23771601
16LXR_22158963_ChIP-Seq_LIVER_Mouse2.20326740
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.20202564
18TP63_17297297_ChIP-ChIP_HaCaT_Human2.18907841
19FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.17507931
20BP1_19119308_ChIP-ChIP_Hs578T_Human1.98824405
21FOXO3_23340844_ChIP-Seq_DLD1_Human1.95604513
22EGR1_23403033_ChIP-Seq_LIVER_Mouse1.89907711
23AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.87296075
24NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.84378832
25AR_21909140_ChIP-Seq_LNCAP_Human1.75420323
26* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.67555877
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.65862291
28CLOCK_20551151_ChIP-Seq_293T_Human1.64973159
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.64187989
30FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.63438286
31LXR_22292898_ChIP-Seq_THP-1_Human1.62180678
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.61742115
33FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.59310533
34RACK7_27058665_Chip-Seq_MCF-7_Human1.58380387
35TCF4_18268006_ChIP-ChIP_LS174T_Human1.56828066
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.56787948
37KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.52905061
38ESR1_21235772_ChIP-Seq_MCF-7_Human1.52348972
39ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.51046750
40KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.49773635
41PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.48080205
42BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.42023990
43FOXA1_25552417_ChIP-Seq_VCAP_Human1.37592489
44CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.37555017
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.33705466
46GATA1_22025678_ChIP-Seq_K562_Human1.32797587
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.32195857
48ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.32183905
49KLF5_25053715_ChIP-Seq_YYC3_Human1.26930325
50VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.26796169
51ZNF263_19887448_ChIP-Seq_K562_Human1.22712574
52SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.20931933
53TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20653259
54IRF8_21731497_ChIP-ChIP_J774_Mouse1.18370773
55HNF4A_19822575_ChIP-Seq_HepG2_Human1.17990549
56RUNX1_27514584_Chip-Seq_MCF-7_Human1.16861654
57GATA2_19941826_ChIP-Seq_K562_Human1.14027222
58CDX2_22108803_ChIP-Seq_LS180_Human1.13437435
59STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.13013613
60TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.10743713
61* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09557149
62TET1_21451524_ChIP-Seq_MESCs_Mouse1.07427503
63NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.06418342
64CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05151106
65EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04141339
66JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.03327478
67DROSHA_22980978_ChIP-Seq_HELA_Human1.03196992
68GATA1_19941826_ChIP-Seq_K562_Human1.02974969
69CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.02281653
70CEBPB_22108803_ChIP-Seq_LS180_Human1.01140273
71RARG_19884340_ChIP-ChIP_MEFs_Mouse1.00955056
72GATA2_22383799_ChIP-Seq_G1ME_Mouse1.00804515
73SA1_27219007_Chip-Seq_Bcells_Human1.00365624
74SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.98831667
75FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.97843506
76GATA3_24758297_ChIP-Seq_MCF-7_Human0.96972565
77CREB1_26743006_Chip-Seq_LNCaP_Human0.95381253
78SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95188357
79GATA1_22383799_ChIP-Seq_G1ME_Mouse0.94841625
80VDR_24763502_ChIP-Seq_THP-1_Human0.93987119
81FOXA2_19822575_ChIP-Seq_HepG2_Human0.93223319
82SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.93156010
83BCOR_27268052_Chip-Seq_Bcells_Human0.92009026
84NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.91269861
85BCL6_27268052_Chip-Seq_Bcells_Human0.90574114
86CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90453017
87IRF8_27001747_Chip-Seq_BMDM_Mouse0.88393862
88STAT1_20625510_ChIP-Seq_HELA_Human0.87351927
89EGR1_19032775_ChIP-ChIP_M12_Human0.86439092
90KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.85061257
91SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84552815
92TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.84275559
93VDR_21846776_ChIP-Seq_THP-1_Human0.83753444
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81660102
95OCT4_18692474_ChIP-Seq_MEFs_Mouse0.80223012
96FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79995578
97RAD21_21589869_ChIP-Seq_MESCs_Mouse0.79059597
98Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.78585881
99PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.78057346
100ETS1_21867929_ChIP-Seq_TH2_Mouse0.77925703

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis6.20889219
2MP0002139_abnormal_hepatobiliary_system5.12860355
3MP0010234_abnormal_vibrissa_follicle4.12283963
4MP0005085_abnormal_gallbladder_physiolo4.11885492
5MP0003183_abnormal_peptide_metabolism3.72667016
6MP0001666_abnormal_nutrient_absorption3.63494749
7MP0009379_abnormal_foot_pigmentation3.34307812
8MP0004264_abnormal_extraembryonic_tissu3.13901277
9MP0010155_abnormal_intestine_physiology3.08241165
10MP0005365_abnormal_bile_salt3.00652048
11MP0003866_abnormal_defecation2.91388956
12MP0004147_increased_porphyrin_level2.84630696
13MP0010352_gastrointestinal_tract_polyps2.54191277
14MP0004043_abnormal_pH_regulation2.53560496
15MP0004858_abnormal_nervous_system2.44351420
16MP0004019_abnormal_vitamin_homeostasis2.37645171
17MP0009840_abnormal_foam_cell2.37345254
18MP0001873_stomach_inflammation2.30321042
19MP0001664_abnormal_digestion2.29765296
20MP0000490_abnormal_crypts_of2.09617590
21MP0001663_abnormal_digestive_system1.99916773
22MP0003868_abnormal_feces_composition1.99245623
23MP0005409_darkened_coat_color1.98106155
24MP0000477_abnormal_intestine_morphology1.96855187
25MP0005166_decreased_susceptibility_to1.86759441
26MP0001765_abnormal_ion_homeostasis1.72027117
27MP0005381_digestive/alimentary_phenotyp1.68795827
28MP0004782_abnormal_surfactant_physiolog1.64607706
29MP0003252_abnormal_bile_duct1.55716761
30MP0002876_abnormal_thyroid_physiology1.55134065
31MP0009643_abnormal_urine_homeostasis1.52782186
32MP0002166_altered_tumor_susceptibility1.46277725
33MP0005332_abnormal_amino_acid1.45962148
34MP0002138_abnormal_hepatobiliary_system1.45581817
35MP0005636_abnormal_mineral_homeostasis1.44379672
36MP0010329_abnormal_lipoprotein_level1.42502980
37MP0005451_abnormal_body_composition1.40512381
38MP0000678_abnormal_parathyroid_gland1.38448245
39MP0000537_abnormal_urethra_morphology1.28676116
40MP0002009_preneoplasia1.24663053
41MP0005670_abnormal_white_adipose1.24529915
42MP0001764_abnormal_homeostasis1.22340526
43MP0000538_abnormal_urinary_bladder1.22176954
44MP0001188_hyperpigmentation1.19426181
45MP0000462_abnormal_digestive_system1.19185050
46MP0002796_impaired_skin_barrier1.18594130
47MP0002136_abnormal_kidney_physiology1.18075494
48MP0003300_gastrointestinal_ulcer1.16758661
49MP0003724_increased_susceptibility_to1.16291247
50MP0003806_abnormal_nucleotide_metabolis1.14901995
51MP0005310_abnormal_salivary_gland1.13617232
52MP0000465_gastrointestinal_hemorrhage1.10511700
53MP0003303_peritoneal_inflammation1.08160368
54MP0002822_catalepsy1.06484641
55MP0009785_altered_susceptibility_to1.05717064
56MP0002006_tumorigenesis1.05022116
57MP0001756_abnormal_urination1.00830676
58MP0004947_skin_inflammation1.00413392
59MP0002118_abnormal_lipid_homeostasis0.99847154
60MP0002098_abnormal_vibrissa_morphology0.98781862
61MP0000230_abnormal_systemic_arterial0.98112364
62MP0001845_abnormal_inflammatory_respons0.97960608
63MP0003879_abnormal_hair_cell0.97591842
64MP0000609_abnormal_liver_physiology0.95366798
65MP0001835_abnormal_antigen_presentation0.93416294
66MP0005025_abnormal_response_to0.92759535
67MP0001501_abnormal_sleep_pattern0.92630498
68MP0005319_abnormal_enzyme/_coenzyme0.92076589
69MP0001790_abnormal_immune_system0.91328163
70MP0005387_immune_system_phenotype0.91328163
71MP0005584_abnormal_enzyme/coenzyme_acti0.86090271
72MP0003436_decreased_susceptibility_to0.86059854
73MP0002971_abnormal_brown_adipose0.84944637
74MP0000604_amyloidosis0.79345747
75MP0005666_abnormal_adipose_tissue0.76523297
76MP0005448_abnormal_energy_balance0.74404765
77MP0003329_amyloid_beta_deposits0.73802214
78MP0003191_abnormal_cellular_cholesterol0.72887632
79MP0008469_abnormal_protein_level0.71413500
80MP0009115_abnormal_fat_cell0.70197429
81MP0005501_abnormal_skin_physiology0.69790762
82MP0005058_abnormal_lysosome_morphology0.67157409
83MP0002896_abnormal_bone_mineralization0.66815773
84MP0001881_abnormal_mammary_gland0.66584100
85MP0006082_CNS_inflammation0.65703389
86MP0001800_abnormal_humoral_immune0.64948074
87MP0002148_abnormal_hypersensitivity_rea0.63047828
88MP0005535_abnormal_body_temperature0.62072593
89MP0009642_abnormal_blood_homeostasis0.60841146
90MP0005165_increased_susceptibility_to0.60082624
91MP0004270_analgesia0.59531799
92MP0009333_abnormal_splenocyte_physiolog0.58485063
93MP0003315_abnormal_perineum_morphology0.57943812
94MP0005671_abnormal_response_to0.57541836
95MP0001485_abnormal_pinna_reflex0.56175562
96MP0003075_altered_response_to0.55620746
97MP0001533_abnormal_skeleton_physiology0.55213494
98MP0000467_abnormal_esophagus_morphology0.53713637
99MP0000249_abnormal_blood_vessel0.51191730
100MP0003718_maternal_effect0.51078907

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glutamine family amino acid metabolism (HP:0010902)7.74533361
2Hyperactive renin-angiotensin system (HP:0000841)6.63954120
3Malnutrition (HP:0004395)5.82720390
4Metabolic alkalosis (HP:0200114)5.65153326
5Decreased circulating renin level (HP:0003351)5.53784566
6Abnormality of proline metabolism (HP:0010907)5.09304989
7Hydroxyprolinuria (HP:0003080)5.09304989
8Abnormality of renin-angiotensin system (HP:0000847)4.92723378
9Ileus (HP:0002595)4.63638728
10Chronic diarrhea (HP:0002028)4.51389540
11Fat malabsorption (HP:0002630)4.32723224
12Alkalosis (HP:0001948)4.29179661
13Flat acetabular roof (HP:0003180)4.23435725
14Abnormality of monocarboxylic acid metabolism (HP:0010996)4.16215628
15Abnormality of the vitamin B12 metabolism (HP:0004341)4.03886091
16Systemic lupus erythematosus (HP:0002725)4.00677260
17Abnormality of vitamin B metabolism (HP:0004340)3.74954543
18Abdominal distention (HP:0003270)3.63675357
19Intrahepatic cholestasis (HP:0001406)3.48418308
20Abnormality of chloride homeostasis (HP:0011422)3.38918829
21Right ventricular cardiomyopathy (HP:0011663)3.37342328
22Hypobetalipoproteinemia (HP:0003563)3.32895847
23Abnormality of vitamin metabolism (HP:0100508)3.23694060
24Hyperaldosteronism (HP:0000859)3.19143586
25Widely patent fontanelles and sutures (HP:0004492)3.16128263
26Acanthocytosis (HP:0001927)3.11110616
27Villous atrophy (HP:0011473)3.07048929
28Abnormality of small intestinal villus morphology (HP:0011472)3.07048929
29Hemorrhage of the eye (HP:0011885)3.05224436
30Eczematoid dermatitis (HP:0000976)3.02355386
31Confusion (HP:0001289)2.95025377
32Conjugated hyperbilirubinemia (HP:0002908)2.86175838
33Congenital sensorineural hearing impairment (HP:0008527)2.80238274
34Hyperammonemia (HP:0001987)2.79411867
35Hyperglycinuria (HP:0003108)2.75320972
36Thin bony cortex (HP:0002753)2.74631278
37Hyperparathyroidism (HP:0000843)2.67805255
38Hypokalemia (HP:0002900)2.59932457
39Pigmentary retinal degeneration (HP:0001146)2.50685227
40Hyponatremia (HP:0002902)2.50327385
41Glycosuria (HP:0003076)2.49087885
42Abnormality of urine glucose concentration (HP:0011016)2.49087885
43Nausea (HP:0002018)2.48321725
44Hypotension (HP:0002615)2.48119657
45Proximal tubulopathy (HP:0000114)2.45693966
46Abnormal tarsal ossification (HP:0008369)2.44474512
47Abnormality of glycine metabolism (HP:0010895)2.43995786
48Abnormality of serine family amino acid metabolism (HP:0010894)2.43995786
49Abnormality of potassium homeostasis (HP:0011042)2.38658302
50Abnormality of dicarboxylic acid metabolism (HP:0010995)2.38404516
51Dicarboxylic aciduria (HP:0003215)2.38404516
52Wide cranial sutures (HP:0010537)2.36149611
53Abnormal biliary tract morphology (HP:0012440)2.34279023
54Glomerulonephritis (HP:0000099)2.32964528
55Abnormality of the distal phalanx of the thumb (HP:0009617)2.27690629
56Focal segmental glomerulosclerosis (HP:0000097)2.25948204
57Nephrolithiasis (HP:0000787)2.25336250
58Dehydration (HP:0001944)2.19995558
59Hyperphosphatemia (HP:0002905)2.19970019
60Xanthomatosis (HP:0000991)2.19054299
61Abnormality of complement system (HP:0005339)2.18813325
62Pili torti (HP:0003777)2.18086867
63Steatorrhea (HP:0002570)2.14201635
64Flattened epiphyses (HP:0003071)2.12693183
65Renal tubular acidosis (HP:0001947)2.09883652
66Hypophosphatemia (HP:0002148)2.08628939
67Pancreatitis (HP:0001733)2.08092400
68Nephritis (HP:0000123)2.08007609
69Cerebral palsy (HP:0100021)2.07832794
70Complement deficiency (HP:0004431)2.07087374
71Protuberant abdomen (HP:0001538)2.05172922
72Metabolic acidosis (HP:0001942)2.04770832
73Increased purine levels (HP:0004368)2.01269098
74Hyperuricemia (HP:0002149)2.01269098
75Posterior subcapsular cataract (HP:0007787)1.97097883
76Visceral angiomatosis (HP:0100761)1.96754645
77Petechiae (HP:0000967)1.92053103
78Biliary tract neoplasm (HP:0100574)1.91927206
79Growth hormone excess (HP:0000845)1.91531656
80Enlarged epiphyses (HP:0010580)1.90995525
81Megaloblastic anemia (HP:0001889)1.90494761
82Gastrointestinal dysmotility (HP:0002579)1.89354359
83Hyperkalemia (HP:0002153)1.85340395
84Adrenal overactivity (HP:0002717)1.84811326
85Gastrointestinal stroma tumor (HP:0100723)1.82256775
86Abnormality of sodium homeostasis (HP:0010931)1.82205726
87Neonatal short-limb short stature (HP:0008921)1.81851746
88Symptomatic seizures (HP:0011145)1.80488956
89Abnormal hair laboratory examination (HP:0003328)1.80256757
90Syncope (HP:0001279)1.79542772
91Facial shape deformation (HP:0011334)1.79375508
92Potter facies (HP:0002009)1.79375508
93Bone pain (HP:0002653)1.78589824
94Abnormality of purine metabolism (HP:0004352)1.76248935
95Gingivitis (HP:0000230)1.75072255
96Glomerulosclerosis (HP:0000096)1.73121078
97Neoplasm of the rectum (HP:0100743)1.71784602
98Abnormality of carpal bone ossification (HP:0006257)1.71437498
99Abnormality of nucleobase metabolism (HP:0010932)1.71328477
100Hemangiomatosis (HP:0007461)1.70337441

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B6.47468428
2MST1R5.34365497
3ERN14.35156728
4PIK3CA4.32113206
5RIPK13.86434668
6EPHA23.26697494
7PRKG22.73626345
8MAP3K102.69147336
9LMTK22.49470334
10STK392.18814785
11FGFR42.05338864
12MET1.89779534
13TESK21.85848044
14EPHB21.81297141
15PTK61.72962845
16EPHA31.64728089
17OXSR11.59933455
18ICK1.57839424
19TYK21.52838931
20MAP3K121.51329094
21STK241.46182733
22RIPK41.42458102
23PRPF4B1.41358291
24MAP3K21.32201594
25EPHB11.31191601
26PRKD31.25148438
27MAP4K11.21235123
28MYLK1.16262200
29DDR21.12899563
30MAP3K11.12448192
31FGFR31.05055781
32AKT31.04279932
33TESK11.03828137
34FER1.00243651
35PDK20.98988124
36MAP2K20.96065102
37CDC42BPA0.93143935
38MATK0.92909590
39PDPK10.92030301
40TAOK10.91956071
41TRIB30.84501783
42GRK60.82593002
43BMPR20.78928775
44SMG10.78860963
45ADRBK20.78819928
46PRKAA20.75961750
47TNIK0.74732150
48ERBB20.74396559
49NLK0.69288064
50MST40.66200526
51PDK10.64990428
52MAPK110.64083295
53KSR20.62571822
54CAMK2D0.61827771
55TBK10.59387718
56MAP3K110.57174448
57MAP2K60.56124537
58JAK10.56049665
59RET0.56036847
60IKBKE0.56000397
61PAK40.48777880
62IRAK10.48756508
63PRKACG0.47591984
64SRC0.47105050
65JAK20.46365691
66PRKD20.43736654
67LYN0.43724656
68ABL20.43033990
69FYN0.41165192
70MAP3K140.40851250
71YES10.40738549
72PRKCA0.38804763
73DYRK1B0.36914035
74PRKCZ0.36888218
75DMPK0.35168704
76PTK20.34026808
77EPHA40.33194187
78MAPKAPK20.32389747
79CDK60.32198338
80PDGFRA0.31951921
81ZAP700.30100985
82CSK0.29875434
83GRK10.28700593
84EEF2K0.27011768
85PRKCD0.26209399
86CDK190.26154091
87IRAK40.25647688
88RPS6KA20.24818458
89CASK0.23814509
90PRKCI0.23297994
91PIM10.23147578
92SYK0.20871975
93BMX0.20588318
94ITK0.20487301
95BTK0.20064323
96JAK30.18882352
97MAPKAPK30.18412837
98WNK40.17861447
99CSNK1A10.17639357
100CSF1R0.17530955

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004604.75151627
2Fat digestion and absorption_Homo sapiens_hsa049753.72060989
3Sulfur metabolism_Homo sapiens_hsa009203.35824937
4Renin-angiotensin system_Homo sapiens_hsa046143.29192023
5Vitamin digestion and absorption_Homo sapiens_hsa049773.08793628
6Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.01967680
7Mineral absorption_Homo sapiens_hsa049782.97952123
8Caffeine metabolism_Homo sapiens_hsa002322.60924168
9Arginine biosynthesis_Homo sapiens_hsa002202.47909834
10Histidine metabolism_Homo sapiens_hsa003402.37223719
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.23507173
12Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.07943785
13Fructose and mannose metabolism_Homo sapiens_hsa000511.97202844
14* Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.96465841
15Protein digestion and absorption_Homo sapiens_hsa049741.89567262
16* Pentose and glucuronate interconversions_Homo sapiens_hsa000401.86861165
17* Starch and sucrose metabolism_Homo sapiens_hsa005001.74291070
18Bile secretion_Homo sapiens_hsa049761.71031954
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.68196756
20PPAR signaling pathway_Homo sapiens_hsa033201.67678600
21Fatty acid degradation_Homo sapiens_hsa000711.63573794
22* Retinol metabolism_Homo sapiens_hsa008301.58270679
23* Chemical carcinogenesis_Homo sapiens_hsa052041.49387082
24* Drug metabolism - other enzymes_Homo sapiens_hsa009831.48293889
25Galactose metabolism_Homo sapiens_hsa000521.48025544
26Asthma_Homo sapiens_hsa053101.47873016
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.47642957
28Intestinal immune network for IgA production_Homo sapiens_hsa046721.47480600
29Arginine and proline metabolism_Homo sapiens_hsa003301.46448010
30* Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.45418337
31Carbohydrate digestion and absorption_Homo sapiens_hsa049731.42311225
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.40436176
33Nitrogen metabolism_Homo sapiens_hsa009101.39764542
34Linoleic acid metabolism_Homo sapiens_hsa005911.37030664
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.30984994
36* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.29607948
37* Steroid hormone biosynthesis_Homo sapiens_hsa001401.19645842
38Tryptophan metabolism_Homo sapiens_hsa003801.19284566
39Allograft rejection_Homo sapiens_hsa053301.16135812
40Glycerolipid metabolism_Homo sapiens_hsa005611.12842738
41Pancreatic secretion_Homo sapiens_hsa049721.11926513
42Maturity onset diabetes of the young_Homo sapiens_hsa049501.11142015
43Autoimmune thyroid disease_Homo sapiens_hsa053201.08104941
44Graft-versus-host disease_Homo sapiens_hsa053321.01934758
45Phenylalanine metabolism_Homo sapiens_hsa003601.00464440
46Arachidonic acid metabolism_Homo sapiens_hsa005900.99916138
47* Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97422470
48Staphylococcus aureus infection_Homo sapiens_hsa051500.87522406
49Ether lipid metabolism_Homo sapiens_hsa005650.86896878
50Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.84919457
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.83303861
52Type I diabetes mellitus_Homo sapiens_hsa049400.82479144
53Fatty acid metabolism_Homo sapiens_hsa012120.75643864
54Other glycan degradation_Homo sapiens_hsa005110.70731802
55Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70547593
56Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.70125416
57Glutathione metabolism_Homo sapiens_hsa004800.68636596
58Antigen processing and presentation_Homo sapiens_hsa046120.62356890
59Tyrosine metabolism_Homo sapiens_hsa003500.57593763
60Peroxisome_Homo sapiens_hsa041460.55945703
61Sulfur relay system_Homo sapiens_hsa041220.55222348
62Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.54792387
63Glycerophospholipid metabolism_Homo sapiens_hsa005640.53857355
64Sphingolipid metabolism_Homo sapiens_hsa006000.52098817
65Primary bile acid biosynthesis_Homo sapiens_hsa001200.51121534
66Leishmaniasis_Homo sapiens_hsa051400.47770111
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.47733685
68Renin secretion_Homo sapiens_hsa049240.43798139
69Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42311228
70Hepatitis C_Homo sapiens_hsa051600.42173425
71Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.40903434
72Fatty acid biosynthesis_Homo sapiens_hsa000610.38517461
73Viral myocarditis_Homo sapiens_hsa054160.37529708
74Thyroid hormone synthesis_Homo sapiens_hsa049180.35999185
75Carbon metabolism_Homo sapiens_hsa012000.34326052
76Leukocyte transendothelial migration_Homo sapiens_hsa046700.33479895
77Insulin resistance_Homo sapiens_hsa049310.31011309
78Butanoate metabolism_Homo sapiens_hsa006500.30529173
79Propanoate metabolism_Homo sapiens_hsa006400.30124928
80Tight junction_Homo sapiens_hsa045300.29218029
81Pertussis_Homo sapiens_hsa051330.28520228
82Pyruvate metabolism_Homo sapiens_hsa006200.26823385
83Toxoplasmosis_Homo sapiens_hsa051450.24364628
84Influenza A_Homo sapiens_hsa051640.22959941
85Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.21428833
86Adipocytokine signaling pathway_Homo sapiens_hsa049200.21344900
87Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.19312614
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.19028354
89Folate biosynthesis_Homo sapiens_hsa007900.18940621
90Biosynthesis of amino acids_Homo sapiens_hsa012300.18094208
91* Metabolic pathways_Homo sapiens_hsa011000.14460073
92Tuberculosis_Homo sapiens_hsa051520.10437953
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.10417652
94Hematopoietic cell lineage_Homo sapiens_hsa046400.10407909
95Cocaine addiction_Homo sapiens_hsa050300.09591530
96Pentose phosphate pathway_Homo sapiens_hsa000300.07351605
97Chemokine signaling pathway_Homo sapiens_hsa040620.05414609
98Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.04676713
99African trypanosomiasis_Homo sapiens_hsa051430.04584733
100ABC transporters_Homo sapiens_hsa020100.04200128

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