UGT2B7

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: The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)9.02826427
2exogenous drug catabolic process (GO:0042738)8.71708772
3omega-hydroxylase P450 pathway (GO:0097267)8.36580663
4drug catabolic process (GO:0042737)8.21618353
5complement activation, alternative pathway (GO:0006957)7.50567842
6regulation of fibrinolysis (GO:0051917)7.47636828
7glyoxylate metabolic process (GO:0046487)7.43325150
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.34179694
9L-phenylalanine catabolic process (GO:0006559)7.34179694
10regulation of protein activation cascade (GO:2000257)7.27511601
11negative regulation of fibrinolysis (GO:0051918)7.24911871
12ethanol oxidation (GO:0006069)7.12898032
13regulation of complement activation (GO:0030449)6.86949796
14erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.81432164
15L-phenylalanine metabolic process (GO:0006558)6.81432164
16urea metabolic process (GO:0019627)6.47357564
17drug metabolic process (GO:0017144)6.38852633
18* cellular glucuronidation (GO:0052695)6.10553235
19nitrogen cycle metabolic process (GO:0071941)5.89756758
20fibrinolysis (GO:0042730)5.84735422
21protein carboxylation (GO:0018214)5.82817784
22peptidyl-glutamic acid carboxylation (GO:0017187)5.82817784
23* glucuronate metabolic process (GO:0019585)5.81532308
24* uronic acid metabolic process (GO:0006063)5.81532308
25ethanol metabolic process (GO:0006067)5.74977003
26blood coagulation, intrinsic pathway (GO:0007597)5.59344320
27urea cycle (GO:0000050)5.56746814
28bile acid biosynthetic process (GO:0006699)5.53328879
29negative regulation of cholesterol transport (GO:0032375)5.48567559
30negative regulation of sterol transport (GO:0032372)5.48567559
31oxidative demethylation (GO:0070989)5.44984213
32aromatic amino acid family catabolic process (GO:0009074)5.41842606
33bile acid metabolic process (GO:0008206)5.38966471
34regulation of triglyceride catabolic process (GO:0010896)5.35285386
35serine family amino acid catabolic process (GO:0009071)5.14666738
36triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.06839263
37bile acid and bile salt transport (GO:0015721)5.04854302
38phenylpropanoid metabolic process (GO:0009698)4.92255050
39protein activation cascade (GO:0072376)4.84039900
40regulation of plasminogen activation (GO:0010755)4.73143802
41glycine metabolic process (GO:0006544)4.62627505
42negative regulation of blood coagulation (GO:0030195)4.59500056
43negative regulation of hemostasis (GO:1900047)4.59500056
44complement activation (GO:0006956)4.56886172
45complement activation, classical pathway (GO:0006958)4.55921580
46imidazole-containing compound metabolic process (GO:0052803)4.51464226
47S-adenosylmethionine metabolic process (GO:0046500)4.43589749
48negative regulation of protein activation cascade (GO:2000258)4.42869154
49flavonoid metabolic process (GO:0009812)4.35271648
50phospholipid efflux (GO:0033700)4.33787796
51hormone catabolic process (GO:0042447)4.33519948
52acylglycerol homeostasis (GO:0055090)4.32504671
53triglyceride homeostasis (GO:0070328)4.32504671
54regulation of humoral immune response (GO:0002920)4.31344699
55acute-phase response (GO:0006953)4.31190254
56tyrosine metabolic process (GO:0006570)4.30576328
57cholesterol efflux (GO:0033344)4.29455189
58amino-acid betaine metabolic process (GO:0006577)4.28600938
59protein-lipid complex remodeling (GO:0034368)4.27556440
60macromolecular complex remodeling (GO:0034367)4.27556440
61plasma lipoprotein particle remodeling (GO:0034369)4.27556440
62high-density lipoprotein particle remodeling (GO:0034375)4.24907459
63negative regulation of coagulation (GO:0050819)4.22714028
64response to mercury ion (GO:0046689)4.15076888
65negative regulation of wound healing (GO:0061045)4.15065429
66alkaloid metabolic process (GO:0009820)4.14398079
67regulation of cholesterol esterification (GO:0010872)4.13303933
68positive regulation of lipoprotein lipase activity (GO:0051006)4.13129942
69positive regulation of triglyceride lipase activity (GO:0061365)4.13129942
70intestinal cholesterol absorption (GO:0030299)4.11436067
71fat-soluble vitamin biosynthetic process (GO:0042362)4.04313676
72glutamate metabolic process (GO:0006536)4.02708127
73arginine metabolic process (GO:0006525)3.96919594
74positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.87296273
75opsonization (GO:0008228)3.87125552
76cytolysis (GO:0019835)3.85030327
77very-low-density lipoprotein particle assembly (GO:0034379)3.84983349
78reverse cholesterol transport (GO:0043691)3.84736090
79negative regulation of lipase activity (GO:0060192)3.80064726
80serine family amino acid metabolic process (GO:0009069)3.76903007
81fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.75986246
82alpha-amino acid catabolic process (GO:1901606)3.74917377
83disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.73631490
84killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.73631490
85regulation of bile acid biosynthetic process (GO:0070857)3.73340902
86positive regulation of hemostasis (GO:1900048)3.71320952
87positive regulation of blood coagulation (GO:0030194)3.71320952
88tryptophan catabolic process (GO:0006569)3.70876305
89indole-containing compound catabolic process (GO:0042436)3.70876305
90indolalkylamine catabolic process (GO:0046218)3.70876305
91heme transport (GO:0015886)3.69917219
92negative regulation of complement activation (GO:0045916)3.66486489
93xenobiotic metabolic process (GO:0006805)3.64384606
94aromatic amino acid family metabolic process (GO:0009072)3.56519355
95drug transmembrane transport (GO:0006855)3.56050919
96positive regulation of lipid catabolic process (GO:0050996)3.46010027
97sodium-independent organic anion transport (GO:0043252)3.44358297
98positive regulation of coagulation (GO:0050820)3.42852549
99xenobiotic catabolic process (GO:0042178)3.40271505
100primary alcohol catabolic process (GO:0034310)3.39810353

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse6.60257027
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.55723164
3LXR_22158963_ChIP-Seq_LIVER_Mouse5.47802188
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.46201357
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.73917995
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.13258195
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.92477782
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.63225516
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.60270781
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.86539363
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.47496077
12FOXA2_19822575_ChIP-Seq_HepG2_Human2.22290050
13* HNF4A_19822575_ChIP-Seq_HepG2_Human2.21851956
14TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.03545848
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.6451498
16TRIM28_21343339_ChIP-Seq_HEK293_Human1.87220012
17CDX2_20551321_ChIP-Seq_CACO-2_Human1.59660578
18HTT_18923047_ChIP-ChIP_STHdh_Human1.56473799
19ESR1_20079471_ChIP-ChIP_T-47D_Human1.43976184
20BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.40673791
21TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36328558
22* GATA4_25053715_ChIP-Seq_YYC3_Human1.35953351
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.31267985
24AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.28242720
25ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22767633
26IRF8_22096565_ChIP-ChIP_GC-B_Human1.21455515
27IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.20893099
28FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20679291
29STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16007153
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.14073221
31ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06465795
32GATA6_25053715_ChIP-Seq_YYC3_Human1.05326392
33RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.02768312
34SOX2_27498859_Chip-Seq_STOMACH_Mouse1.02253662
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00677080
36SOX2_20726797_ChIP-Seq_SW620_Human0.98434230
37FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.98313153
38PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.97841344
39HNFA_21074721_ChIP-Seq_CACO-2_Human0.92027280
40CDX2_19796622_ChIP-Seq_MESCs_Mouse0.91849547
41CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.91824921
42SALL4_18804426_ChIP-ChIP_XEN_Mouse0.91137144
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.90867763
44BCAT_22108803_ChIP-Seq_LS180_Human0.90454933
45* FOXA1_25552417_ChIP-Seq_VCAP_Human0.89833025
46GATA1_22025678_ChIP-Seq_K562_Human0.88138864
47ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86194201
48TCF4_18268006_ChIP-ChIP_LS174T_Human0.86140420
49CBP_21632823_ChIP-Seq_H3396_Human0.85867061
50ESR2_21235772_ChIP-Seq_MCF-7_Human0.85653384
51RXRA_24833708_ChIP-Seq_LIVER_Mouse0.84993111
52FOXO3_23340844_ChIP-Seq_DLD1_Human0.84630704
53PHF8_20622853_ChIP-Seq_HELA_Human0.84155768
54CLOCK_20551151_ChIP-Seq_293T_Human0.82848912
55CEBPB_22108803_ChIP-Seq_LS180_Human0.81145383
56* TP53_18474530_ChIP-ChIP_U2OS_Human0.80034092
57PIAS1_25552417_ChIP-Seq_VCAP_Human0.79448821
58KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78703767
59AR_20517297_ChIP-Seq_VCAP_Human0.78562030
60* CDX2_22108803_ChIP-Seq_LS180_Human0.78375515
61PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77747122
62GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.76740203
63NFE2_27457419_Chip-Seq_LIVER_Mouse0.74375833
64NFYA_21822215_ChIP-Seq_K562_Human0.72844027
65NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.71846205
66CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.71801993
67GATA6_21074721_ChIP-Seq_CACO-2_Human0.70560632
68SOX2_21211035_ChIP-Seq_LN229_Human0.67571180
69CBX2_22325352_ChIP-Seq_293T-Rex_Human0.66096062
70Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.65415684
71ETV1_20927104_ChIP-Seq_GIST48_Human0.65367293
72EZH2_27294783_Chip-Seq_NPCs_Mouse0.63866022
73ETV2_25802403_ChIP-Seq_MESCs_Mouse0.63719977
74SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.61597710
75IRF1_19129219_ChIP-ChIP_H3396_Human0.60615044
76ESR1_21235772_ChIP-Seq_MCF-7_Human0.59987659
77PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.59368785
78CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.59143694
79PPAR_26484153_Chip-Seq_NCI-H1993_Human0.57878184
80CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.57827893
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.57612787
82NRF2_20460467_ChIP-Seq_MEFs_Mouse0.57612787
83BP1_19119308_ChIP-ChIP_Hs578T_Human0.57186826
84RAD21_21589869_ChIP-Seq_MESCs_Mouse0.55971766
85STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.55866825
86ESRRB_18555785_Chip-Seq_ESCs_Mouse0.55274939
87SUZ12_27294783_Chip-Seq_NPCs_Mouse0.54676397
88ER_23166858_ChIP-Seq_MCF-7_Human0.54661354
89CRX_20693478_ChIP-Seq_RETINA_Mouse0.54658941
90NFYB_21822215_ChIP-Seq_K562_Human0.54179287
91SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.54137802
92POU3F2_20337985_ChIP-ChIP_501MEL_Human0.53812600
93GATA3_24758297_ChIP-Seq_MCF-7_Human0.53731506
94MYC_19829295_ChIP-Seq_ESCs_Human0.52650651
95RBPJ_21746931_ChIP-Seq_IB4_Human0.52522746
96BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.52423261
97EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.51781411
98P53_21459846_ChIP-Seq_SAOS-2_Human0.51130687
99FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.51060560
100SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.50467645

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system9.22337007
2MP0005360_urolithiasis7.07603303
3MP0005085_abnormal_gallbladder_physiolo6.30218961
4MP0005365_abnormal_bile_salt5.64740843
5MP0008875_abnormal_xenobiotic_pharmacok5.39343815
6MP0003195_calcinosis4.96097558
7MP0003252_abnormal_bile_duct4.15782334
8MP0002138_abnormal_hepatobiliary_system4.04465285
9MP0001666_abnormal_nutrient_absorption3.79087944
10MP0003868_abnormal_feces_composition3.25891982
11MP0010329_abnormal_lipoprotein_level2.91441076
12MP0005332_abnormal_amino_acid2.58597499
13MP0009697_abnormal_copulation2.55029093
14MP0003806_abnormal_nucleotide_metabolis2.42772315
15MP0009840_abnormal_foam_cell2.31856874
16MP0003191_abnormal_cellular_cholesterol2.06996668
17MP0004019_abnormal_vitamin_homeostasis2.03658073
18MP0002876_abnormal_thyroid_physiology2.00318276
19MP0000609_abnormal_liver_physiology1.78405106
20MP0002118_abnormal_lipid_homeostasis1.70890095
21MP0001764_abnormal_homeostasis1.65354523
22MP0010368_abnormal_lymphatic_system1.47361018
23MP0009643_abnormal_urine_homeostasis1.38728758
24MP0005670_abnormal_white_adipose1.34952993
25MP0005408_hypopigmentation1.25897716
26MP0002132_abnormal_respiratory_system1.20966026
27MP0005319_abnormal_enzyme/_coenzyme1.11826958
28MP0005584_abnormal_enzyme/coenzyme_acti1.07470891
29MP0005636_abnormal_mineral_homeostasis1.06193442
30MP0000598_abnormal_liver_morphology1.00339404
31MP0003656_abnormal_erythrocyte_physiolo0.97856599
32MP0003879_abnormal_hair_cell0.96942604
33MP0003183_abnormal_peptide_metabolism0.92680691
34MP0001661_extended_life_span0.92634476
35MP0005451_abnormal_body_composition0.92471580
36MP0009642_abnormal_blood_homeostasis0.89349606
37MP0008872_abnormal_physiological_respon0.86101830
38MP0008469_abnormal_protein_level0.79686090
39MP0005376_homeostasis/metabolism_phenot0.78310519
40MP0009763_increased_sensitivity_to0.77759091
41MP0002971_abnormal_brown_adipose0.76635931
42MP0000604_amyloidosis0.75859234
43MP0009053_abnormal_anal_canal0.73888638
44MP0003186_abnormal_redox_activity0.73760884
45MP0004043_abnormal_pH_regulation0.73682386
46MP0009764_decreased_sensitivity_to0.73541766
47MP0005395_other_phenotype0.72414591
48MP0001756_abnormal_urination0.72034071
49MP0005535_abnormal_body_temperature0.69608463
50MP0002136_abnormal_kidney_physiology0.66533626
51MP0001915_intracranial_hemorrhage0.64269324
52MP0003638_abnormal_response/metabolism_0.60829579
53MP0002078_abnormal_glucose_homeostasis0.59868185
54MP0005187_abnormal_penis_morphology0.59851248
55MP0005464_abnormal_platelet_physiology0.57359791
56MP0002168_other_aberrant_phenotype0.56398622
57MP0009785_altered_susceptibility_to0.55377599
58MP0002282_abnormal_trachea_morphology0.54746192
59MP0005058_abnormal_lysosome_morphology0.52987743
60MP0005266_abnormal_metabolism0.52338070
61MP0005334_abnormal_fat_pad0.52277460
62MP0003011_delayed_dark_adaptation0.51888894
63MP0005166_decreased_susceptibility_to0.48931652
64MP0003718_maternal_effect0.46990461
65MP0005023_abnormal_wound_healing0.46483907
66MP0004272_abnormal_basement_membrane0.46130164
67MP0008874_decreased_physiological_sensi0.45828003
68MP0002249_abnormal_larynx_morphology0.45793242
69MP0003690_abnormal_glial_cell0.45315437
70MP0004264_abnormal_extraembryonic_tissu0.45084938
71MP0005448_abnormal_energy_balance0.44783599
72MP0000249_abnormal_blood_vessel0.43082831
73MP0004782_abnormal_surfactant_physiolog0.39561604
74MP0006036_abnormal_mitochondrial_physio0.39532125
75MP0005084_abnormal_gallbladder_morpholo0.39175374
76MP0003953_abnormal_hormone_level0.37978512
77MP0010386_abnormal_urinary_bladder0.35732595
78MP0009765_abnormal_xenobiotic_induced0.35224141
79MP0009115_abnormal_fat_cell0.34592878
80MP0000566_synostosis0.33707004
81MP0005164_abnormal_response_to0.32823650
82MP0004883_abnormal_blood_vessel0.31495186
83MP0005220_abnormal_exocrine_pancreas0.30718066
84MP0010155_abnormal_intestine_physiology0.30368798
85MP0002089_abnormal_postnatal_growth/wei0.27945386
86MP0002135_abnormal_kidney_morphology0.27907356
87MP0001845_abnormal_inflammatory_respons0.27489726
88MP0005409_darkened_coat_color0.25790430
89MP0004130_abnormal_muscle_cell0.23966867
90MP0001765_abnormal_ion_homeostasis0.22266657
91MP0003959_abnormal_lean_body0.21903049
92MP0002928_abnormal_bile_duct0.21865911
93MP0001881_abnormal_mammary_gland0.21690494
94MP0000467_abnormal_esophagus_morphology0.20484139
95MP0004147_increased_porphyrin_level0.20077663
96MP0003075_altered_response_to0.19966242
97MP0005647_abnormal_sex_gland0.18968578
98MP0000538_abnormal_urinary_bladder0.18377822
99MP0005666_abnormal_adipose_tissue0.17734052
100MP0000639_abnormal_adrenal_gland0.17152675

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of monocarboxylic acid metabolism (HP:0010996)9.37256180
2Deep venous thrombosis (HP:0002625)9.11333810
3Complement deficiency (HP:0004431)8.96357113
4Prolonged partial thromboplastin time (HP:0003645)8.17877603
5Hypobetalipoproteinemia (HP:0003563)8.01668032
6Abnormality of aromatic amino acid family metabolism (HP:0004338)7.66272423
7Abnormality of complement system (HP:0005339)7.20109899
8Conjugated hyperbilirubinemia (HP:0002908)6.44107272
9Systemic lupus erythematosus (HP:0002725)5.97710915
10Joint hemorrhage (HP:0005261)5.58255173
11Glomerulonephritis (HP:0000099)5.18982289
12Intrahepatic cholestasis (HP:0001406)5.07548837
13Hyperlipoproteinemia (HP:0010980)5.04478028
14Abnormality of glutamine family amino acid metabolism (HP:0010902)4.82530113
15Xanthomatosis (HP:0000991)4.81412111
16Abnormality of the common coagulation pathway (HP:0010990)4.67832167
17Hypolipoproteinemia (HP:0010981)4.60346787
18Abnormality of pyrimidine metabolism (HP:0004353)4.28741538
19Recurrent gram-negative bacterial infections (HP:0005420)4.16473965
20Spontaneous abortion (HP:0005268)4.10441125
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.94330664
22Fat malabsorption (HP:0002630)3.92027968
23Nephritis (HP:0000123)3.76758459
24Abnormality of the intrinsic pathway (HP:0010989)3.69886174
25Generalized aminoaciduria (HP:0002909)3.36696670
26Hyperammonemia (HP:0001987)3.27514305
27Hyperglycinemia (HP:0002154)3.24509818
28Abnormality of methionine metabolism (HP:0010901)3.13746432
29Abnormality of glycine metabolism (HP:0010895)3.13506682
30Abnormality of serine family amino acid metabolism (HP:0010894)3.13506682
31Abnormality of aspartate family amino acid metabolism (HP:0010899)2.99359729
32Hypercholesterolemia (HP:0003124)2.97292008
33Abnormality of nucleobase metabolism (HP:0010932)2.94629057
34Steatorrhea (HP:0002570)2.93991264
35Rickets (HP:0002748)2.91046774
36Osteomalacia (HP:0002749)2.90291471
37Hypoalphalipoproteinemia (HP:0003233)2.89132579
38Epidermoid cyst (HP:0200040)2.88836491
39Delayed CNS myelination (HP:0002188)2.88538539
40Vascular calcification (HP:0004934)2.88128674
41Gingival bleeding (HP:0000225)2.84896792
42Hyperglycinuria (HP:0003108)2.83989197
43Hyperbilirubinemia (HP:0002904)2.65928604
44Glycosuria (HP:0003076)2.63266607
45Abnormality of urine glucose concentration (HP:0011016)2.63266607
46Hyperphosphaturia (HP:0003109)2.60888495
47Abnormality of sulfur amino acid metabolism (HP:0004339)2.59673063
48Hemorrhage of the eye (HP:0011885)2.58737074
49Abnormality of proline metabolism (HP:0010907)2.55504851
50Hydroxyprolinuria (HP:0003080)2.55504851
51Mitral stenosis (HP:0001718)2.53714378
52Cardiovascular calcification (HP:0011915)2.52968652
53Abnormality of serum amino acid levels (HP:0003112)2.52798763
54Abnormality of vitamin metabolism (HP:0100508)2.47377120
55Thrombophlebitis (HP:0004418)2.44324788
56Hepatocellular carcinoma (HP:0001402)2.42127927
57Alkalosis (HP:0001948)2.38442600
58Gout (HP:0001997)2.34546135
59Purpura (HP:0000979)2.34198198
60Fair hair (HP:0002286)2.34195275
61Abnormality of purine metabolism (HP:0004352)2.33160837
62Reduced antithrombin III activity (HP:0001976)2.25733946
63Metabolic acidosis (HP:0001942)2.23165863
64Abnormal urine phosphate concentration (HP:0012599)2.22952108
65Neonatal hypoglycemia (HP:0001998)2.19144906
66Menorrhagia (HP:0000132)2.18830445
67Proximal tubulopathy (HP:0000114)2.14443348
68Pulmonary embolism (HP:0002204)2.11999443
69Hypophosphatemic rickets (HP:0004912)2.11586669
70Acanthocytosis (HP:0001927)2.09877120
71Facial shape deformation (HP:0011334)2.06920389
72Potter facies (HP:0002009)2.06920389
73Elevated alkaline phosphatase (HP:0003155)2.04990617
74Poikilocytosis (HP:0004447)2.03133725
75Abnormal enzyme/coenzyme activity (HP:0012379)2.02641559
76Ketosis (HP:0001946)1.98745336
77Abnormality of alkaline phosphatase activity (HP:0004379)1.97558035
78Irritability (HP:0000737)1.93129304
79Joint swelling (HP:0001386)1.92385033
80Enlarged kidneys (HP:0000105)1.82422401
81Hypophosphatemia (HP:0002148)1.81467774
82Abnormality of iron homeostasis (HP:0011031)1.78630775
83Cholelithiasis (HP:0001081)1.77842880
84Arthropathy (HP:0003040)1.77488911
85Abnormal platelet function (HP:0011869)1.76485787
86Impaired platelet aggregation (HP:0003540)1.76485787
87Nephrolithiasis (HP:0000787)1.75865630
88Myocardial infarction (HP:0001658)1.75159241
89Abnormal gallbladder physiology (HP:0012438)1.74986212
90Cholecystitis (HP:0001082)1.74986212
91Cerebral palsy (HP:0100021)1.74530884
92Increased serum ferritin (HP:0003281)1.71241135
93Abnormality of fatty-acid metabolism (HP:0004359)1.70996002
94Abnormal gallbladder morphology (HP:0012437)1.68347646
95Abnormality of transition element cation homeostasis (HP:0011030)1.67696023
96Abnormality of the Achilles tendon (HP:0005109)1.67566286
97Increased purine levels (HP:0004368)1.66415655
98Hyperuricemia (HP:0002149)1.66415655
99Skin nodule (HP:0200036)1.66261515
100Increased mean platelet volume (HP:0011877)1.65934213

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.31079333
2FGFR43.88699471
3WNK33.77237327
4ACVR1B3.37871435
5RIPK12.92771802
6OXSR12.89781640
7PIK3CA2.76450531
8MST1R2.63752151
9PIK3CG2.32128492
10PDK22.30735494
11FGFR32.20066049
12TYK21.93549656
13MYLK1.91532447
14PRKACG1.83259347
15PINK11.81693294
16MAP3K121.65079141
17STK391.63675065
18MAP3K31.63235819
19PRKAA21.62841896
20EPHA31.62781374
21MAP3K21.56510986
22MAPK111.55698226
23EPHA21.43760122
24WNK41.42095329
25SGK2231.35104255
26SGK4941.35104255
27BCKDK1.34537267
28SIK11.31688503
29NLK1.29737278
30PDPK11.29012372
31LATS11.25583651
32SGK21.25322552
33AKT31.24248392
34ABL21.24120640
35CASK1.23425210
36ERBB21.14320421
37IGF1R1.07395914
38MAP3K11.05335735
39TRIB31.04050994
40PRKG21.01809235
41SGK31.01655017
42GRK10.98343374
43MET0.96889595
44NEK90.95718035
45TGFBR20.95326089
46EPHA40.93177291
47BCR0.92959804
48TAOK30.92286645
49FER0.91907740
50JAK10.90966913
51PRKCZ0.89236143
52RET0.88651377
53PDK10.86586353
54MAP2K40.83193275
55FRK0.80303211
56ICK0.79533419
57PRKG10.79095151
58PRKAA10.78270205
59TBK10.76243724
60STK380.75520151
61STK38L0.75176013
62PRKCG0.72241256
63FGFR20.72141027
64PRKACA0.71390026
65MAPKAPK30.67227540
66JAK20.65798056
67CSF1R0.64229253
68NTRK30.63537213
69LMTK20.61121688
70PRKCA0.60434364
71EPHB10.59788056
72SGK10.59463730
73TIE10.54076069
74EIF2AK10.52311626
75INSRR0.52251647
76MELK0.50584125
77PDGFRA0.49743490
78PTK60.48469850
79MAP3K50.48329976
80TESK20.47332487
81PKN20.46074070
82PRKCB0.45245630
83CSNK1A10.44526425
84PRPF4B0.41787214
85PRKCQ0.39225722
86CSNK1E0.37099837
87GSK3A0.37091848
88MAP2K60.37044267
89MAP3K70.36444330
90PRKACB0.33116484
91RPS6KA30.32631796
92DYRK1B0.32115670
93IRAK30.31843448
94MAP3K110.30627411
95PRKCE0.29950905
96CSNK2A10.29316734
97MST40.29238377
98* SRC0.29228737
99BRSK20.28106777
100RPS6KB10.27800124

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002324.43173565
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.75105848
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.66624288
4Complement and coagulation cascades_Homo sapiens_hsa046103.62398554
5* Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.48772513
6* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.45411633
7* Retinol metabolism_Homo sapiens_hsa008303.36263478
8* Chemical carcinogenesis_Homo sapiens_hsa052042.91997695
9* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.88282694
10* Pentose and glucuronate interconversions_Homo sapiens_hsa000402.73495086
11Arginine biosynthesis_Homo sapiens_hsa002202.58480511
12* Steroid hormone biosynthesis_Homo sapiens_hsa001402.57802807
13Fatty acid degradation_Homo sapiens_hsa000712.55660751
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54686358
15* Drug metabolism - other enzymes_Homo sapiens_hsa009832.48600727
16Phenylalanine metabolism_Homo sapiens_hsa003602.44764315
17Tyrosine metabolism_Homo sapiens_hsa003502.31364739
18Histidine metabolism_Homo sapiens_hsa003402.15340022
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.01119851
20Cyanoamino acid metabolism_Homo sapiens_hsa004601.94472909
21Butanoate metabolism_Homo sapiens_hsa006501.88549723
22Tryptophan metabolism_Homo sapiens_hsa003801.87928350
23Linoleic acid metabolism_Homo sapiens_hsa005911.83360137
24Bile secretion_Homo sapiens_hsa049761.80842678
25* Starch and sucrose metabolism_Homo sapiens_hsa005001.75403673
26* Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.74218443
27PPAR signaling pathway_Homo sapiens_hsa033201.49057145
28Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.46004324
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.32253638
30Fat digestion and absorption_Homo sapiens_hsa049751.31089212
31Peroxisome_Homo sapiens_hsa041461.26646955
32Staphylococcus aureus infection_Homo sapiens_hsa051501.20908537
33beta-Alanine metabolism_Homo sapiens_hsa004101.19557998
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19083870
35Arachidonic acid metabolism_Homo sapiens_hsa005901.14763152
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.13821369
37Vitamin B6 metabolism_Homo sapiens_hsa007501.12855397
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.11464816
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.06481249
40Arginine and proline metabolism_Homo sapiens_hsa003301.04707074
41Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.01381371
42Biosynthesis of amino acids_Homo sapiens_hsa012301.01274632
43Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99061836
44Pyruvate metabolism_Homo sapiens_hsa006200.98827221
45Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.96893546
46Propanoate metabolism_Homo sapiens_hsa006400.95974722
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.95834709
48Prion diseases_Homo sapiens_hsa050200.95114977
49Carbon metabolism_Homo sapiens_hsa012000.82806786
50Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.79604739
51Vitamin digestion and absorption_Homo sapiens_hsa049770.79470375
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.78611559
53Fatty acid metabolism_Homo sapiens_hsa012120.78083601
54ABC transporters_Homo sapiens_hsa020100.75400787
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64402940
56One carbon pool by folate_Homo sapiens_hsa006700.62148070
57Sulfur metabolism_Homo sapiens_hsa009200.56308474
58Renin-angiotensin system_Homo sapiens_hsa046140.50461238
59Fructose and mannose metabolism_Homo sapiens_hsa000510.44465895
60* Metabolic pathways_Homo sapiens_hsa011000.43994383
61Sulfur relay system_Homo sapiens_hsa041220.41615900
62Glycerolipid metabolism_Homo sapiens_hsa005610.40761603
63Lysine degradation_Homo sapiens_hsa003100.39552218
64Galactose metabolism_Homo sapiens_hsa000520.36007723
65Mineral absorption_Homo sapiens_hsa049780.29639435
66alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29559796
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26980619
68Pertussis_Homo sapiens_hsa051330.26819604
69Insulin resistance_Homo sapiens_hsa049310.23410404
70Pentose phosphate pathway_Homo sapiens_hsa000300.22646985
71Fatty acid elongation_Homo sapiens_hsa000620.22511658
72Glutathione metabolism_Homo sapiens_hsa004800.19041848
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.15693202
74Glucagon signaling pathway_Homo sapiens_hsa049220.15281890
75Fatty acid biosynthesis_Homo sapiens_hsa000610.12354992
76Glycosaminoglycan degradation_Homo sapiens_hsa005310.11516355
77Other glycan degradation_Homo sapiens_hsa005110.10559237
78Nitrogen metabolism_Homo sapiens_hsa009100.08764131
79Adipocytokine signaling pathway_Homo sapiens_hsa049200.07816751
80Protein digestion and absorption_Homo sapiens_hsa049740.06227917
81Systemic lupus erythematosus_Homo sapiens_hsa053220.05525059
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.05133039
83Folate biosynthesis_Homo sapiens_hsa007900.05128737
84Steroid biosynthesis_Homo sapiens_hsa001000.00409596
85Sphingolipid metabolism_Homo sapiens_hsa006000.00231386
86Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2540033
87N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2123106
88Insulin signaling pathway_Homo sapiens_hsa04910-0.1809250
89Circadian rhythm_Homo sapiens_hsa04710-0.1699591
90Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1643812
91Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1642647
92Ether lipid metabolism_Homo sapiens_hsa00565-0.1491911
93Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1094327
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.0905403
95Amoebiasis_Homo sapiens_hsa05146-0.0780851
96Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0640047
97Serotonergic synapse_Homo sapiens_hsa04726-0.0535493
98African trypanosomiasis_Homo sapiens_hsa05143-0.0475714
99Selenocompound metabolism_Homo sapiens_hsa00450-0.0277262
100AMPK signaling pathway_Homo sapiens_hsa04152-0.0082428

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