CYP2A6

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, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* drug catabolic process (GO:0042737)9.25103390
2negative regulation of fibrinolysis (GO:0051918)8.91559178
3regulation of fibrinolysis (GO:0051917)8.75816848
4epoxygenase P450 pathway (GO:0019373)8.43484073
5omega-hydroxylase P450 pathway (GO:0097267)8.28734946
6glyoxylate metabolic process (GO:0046487)8.10792923
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.65606933
8L-phenylalanine catabolic process (GO:0006559)7.65606933
9fibrinolysis (GO:0042730)7.30093885
10cellular glucuronidation (GO:0052695)7.18026788
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.05892100
12L-phenylalanine metabolic process (GO:0006558)7.05892100
13urea metabolic process (GO:0019627)6.85946415
14uronic acid metabolic process (GO:0006063)6.83002343
15glucuronate metabolic process (GO:0019585)6.83002343
16regulation of protein activation cascade (GO:2000257)6.58706816
17ethanol oxidation (GO:0006069)6.52179941
18complement activation, alternative pathway (GO:0006957)6.52148033
19oxidative demethylation (GO:0070989)6.49745733
20bile acid biosynthetic process (GO:0006699)6.33587883
21nitrogen cycle metabolic process (GO:0071941)6.24549224
22regulation of complement activation (GO:0030449)6.11152459
23negative regulation of sterol transport (GO:0032372)6.06077904
24negative regulation of cholesterol transport (GO:0032375)6.06077904
25peptidyl-glutamic acid carboxylation (GO:0017187)6.05607133
26protein carboxylation (GO:0018214)6.05607133
27* drug metabolic process (GO:0017144)5.96581765
28aromatic amino acid family catabolic process (GO:0009074)5.86197906
29blood coagulation, intrinsic pathway (GO:0007597)5.77306201
30bile acid metabolic process (GO:0008206)5.69841951
31serine family amino acid catabolic process (GO:0009071)5.55894939
32urea cycle (GO:0000050)5.52459144
33regulation of plasminogen activation (GO:0010755)5.33710271
34glycine metabolic process (GO:0006544)5.31160287
35S-adenosylmethionine metabolic process (GO:0046500)5.28904033
36bile acid and bile salt transport (GO:0015721)5.28892697
37ethanol metabolic process (GO:0006067)5.28113552
38fat-soluble vitamin biosynthetic process (GO:0042362)5.21679451
39amino-acid betaine metabolic process (GO:0006577)5.21536113
40negative regulation of hemostasis (GO:1900047)5.18677067
41negative regulation of blood coagulation (GO:0030195)5.18677067
42regulation of triglyceride catabolic process (GO:0010896)5.15347049
43alkaloid metabolic process (GO:0009820)4.93033129
44negative regulation of coagulation (GO:0050819)4.71671618
45triglyceride homeostasis (GO:0070328)4.68345904
46acylglycerol homeostasis (GO:0055090)4.68345904
47negative regulation of wound healing (GO:0061045)4.60600344
48phospholipid efflux (GO:0033700)4.55969594
49doxorubicin metabolic process (GO:0044598)4.52892553
50daunorubicin metabolic process (GO:0044597)4.52892553
51polyketide metabolic process (GO:0030638)4.52892553
52positive regulation of blood coagulation (GO:0030194)4.39350879
53positive regulation of hemostasis (GO:1900048)4.39350879
54triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.35942169
55protein activation cascade (GO:0072376)4.33863832
56tyrosine metabolic process (GO:0006570)4.33227191
57tryptophan catabolic process (GO:0006569)4.26723215
58indole-containing compound catabolic process (GO:0042436)4.26723215
59indolalkylamine catabolic process (GO:0046218)4.26723215
60intestinal cholesterol absorption (GO:0030299)4.24921865
61heme transport (GO:0015886)4.23242237
62negative regulation of lipase activity (GO:0060192)4.16811258
63serine family amino acid metabolic process (GO:0009069)4.11918950
64hormone catabolic process (GO:0042447)4.10151434
65response to mercury ion (GO:0046689)4.09156055
66positive regulation of coagulation (GO:0050820)4.06416943
67aminoglycoside antibiotic metabolic process (GO:0030647)4.03325684
68primary alcohol catabolic process (GO:0034310)4.02848783
69arginine metabolic process (GO:0006525)4.00463936
70acute-phase response (GO:0006953)3.98403536
71cholesterol efflux (GO:0033344)3.97948273
72high-density lipoprotein particle remodeling (GO:0034375)3.95949866
73fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.91297074
74flavonoid metabolic process (GO:0009812)3.90286810
75complement activation (GO:0006956)3.89968285
76regulation of humoral immune response (GO:0002920)3.88296687
77L-methionine salvage (GO:0071267)3.88216771
78L-methionine biosynthetic process (GO:0071265)3.88216771
79amino acid salvage (GO:0043102)3.88216771
80complement activation, classical pathway (GO:0006958)3.85396303
81macromolecular complex remodeling (GO:0034367)3.84332412
82plasma lipoprotein particle remodeling (GO:0034369)3.84332412
83protein-lipid complex remodeling (GO:0034368)3.84332412
84very-low-density lipoprotein particle assembly (GO:0034379)3.83326652
85positive regulation of triglyceride lipase activity (GO:0061365)3.83297741
86positive regulation of lipoprotein lipase activity (GO:0051006)3.83297741
87aromatic amino acid family metabolic process (GO:0009072)3.80427298
88imidazole-containing compound metabolic process (GO:0052803)3.79246172
89negative regulation of fatty acid biosynthetic process (GO:0045717)3.78348565
90alpha-amino acid catabolic process (GO:1901606)3.75682407
91negative regulation of protein activation cascade (GO:2000258)3.72249872
92* xenobiotic metabolic process (GO:0006805)3.72089771
93steroid catabolic process (GO:0006706)3.71186204
94sodium-independent organic anion transport (GO:0043252)3.58946908
95regulation of cholesterol esterification (GO:0010872)3.58854484
96regulation of lipoprotein particle clearance (GO:0010984)3.57663644
97tryptophan metabolic process (GO:0006568)3.53714210
98killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.52399175
99disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.52399175
100* exogenous drug catabolic process (GO:0042738)10.2570741

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.09359301
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.77964585
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.97759116
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.76169772
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.19526257
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.80826525
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.77899104
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.16286021
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.14121294
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.20336821
11HNF4A_19822575_ChIP-Seq_HepG2_Human2.19084503
12FOXA2_19822575_ChIP-Seq_HepG2_Human2.11215412
13* HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.04974949
14ESR1_20079471_ChIP-ChIP_T-47D_Human2.01947650
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.2579518
16HTT_18923047_ChIP-ChIP_STHdh_Human1.65217191
17TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61482038
18NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.47544928
19AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.25862283
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.21861056
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.21321063
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20711637
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17005495
24BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12863689
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.07912502
26RXRA_24833708_ChIP-Seq_LIVER_Mouse1.05697088
27TRIM28_21343339_ChIP-Seq_HEK293_Human1.03520530
28CDX2_20551321_ChIP-Seq_CACO-2_Human1.01021877
29IRF8_22096565_ChIP-ChIP_GC-B_Human0.99207353
30RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.98544360
31CBP_21632823_ChIP-Seq_H3396_Human0.97870733
32ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97427616
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95017254
34GATA4_25053715_ChIP-Seq_YYC3_Human0.92516591
35SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91440291
36FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.90970335
37FOXA1_25552417_ChIP-Seq_VCAP_Human0.89773794
38PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.88605489
39CEBPB_22108803_ChIP-Seq_LS180_Human0.88559461
40IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.87503389
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.87281577
42HNFA_21074721_ChIP-Seq_CACO-2_Human0.85847551
43ESR2_21235772_ChIP-Seq_MCF-7_Human0.82011766
44SOX2_21211035_ChIP-Seq_LN229_Human0.81266893
45ESR1_15608294_ChIP-ChIP_MCF-7_Human0.80629339
46CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.78097224
47IRF1_19129219_ChIP-ChIP_H3396_Human0.77001126
48TP53_18474530_ChIP-ChIP_U2OS_Human0.76806937
49KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76276979
50PHF8_20622853_ChIP-Seq_HELA_Human0.76053729
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.75717202
52FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.71312574
53BCAT_22108803_ChIP-Seq_LS180_Human0.70943478
54PIAS1_25552417_ChIP-Seq_VCAP_Human0.69738154
55* GATA6_25053715_ChIP-Seq_YYC3_Human0.68981663
56* AR_20517297_ChIP-Seq_VCAP_Human0.66907599
57NFYA_21822215_ChIP-Seq_K562_Human0.65970708
58PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.64966140
59NFE2_27457419_Chip-Seq_LIVER_Mouse0.63028860
60GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.62064451
61ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61741661
62SOX2_20726797_ChIP-Seq_SW620_Human0.61327652
63NRF2_20460467_ChIP-Seq_MEFs_Mouse0.60835119
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.60835119
65P53_21459846_ChIP-Seq_SAOS-2_Human0.59554332
66RAC3_21632823_ChIP-Seq_H3396_Human0.57586104
67LXR_22292898_ChIP-Seq_THP-1_Human0.57561319
68CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.57313896
69KLF5_20875108_ChIP-Seq_MESCs_Mouse0.56645579
70ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.56130217
71EZH2_27294783_Chip-Seq_NPCs_Mouse0.56061765
72SPI1_20517297_ChIP-Seq_HL60_Human0.55933460
73RARG_19884340_ChIP-ChIP_MEFs_Mouse0.55693807
74SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.55672343
75GATA6_21074721_ChIP-Seq_CACO-2_Human0.55183117
76ERG_20517297_ChIP-Seq_VCAP_Human0.53865085
77FOXH1_21741376_ChIP-Seq_EPCs_Human0.53847498
78CLOCK_20551151_ChIP-Seq_293T_Human0.53827487
79CBX2_22325352_ChIP-Seq_293T-Rex_Human0.53754718
80CDX2_19796622_ChIP-Seq_MESCs_Mouse0.52937987
81AUTS2_25519132_ChIP-Seq_293T-REX_Human0.50317027
82ELF1_20517297_ChIP-Seq_JURKAT_Human0.50170943
83ETV2_25802403_ChIP-Seq_MESCs_Mouse0.49396666
84ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.49236912
85SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.48497733
86GATA3_24758297_ChIP-Seq_MCF-7_Human0.48494543
87FOXO3_23340844_ChIP-Seq_DLD1_Human0.48160842
88EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.47959281
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.47862777
90FOXA1_21572438_ChIP-Seq_LNCaP_Human0.46995093
91GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.46864652
92SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.46638665
93RAD21_21589869_ChIP-Seq_MESCs_Mouse0.46623221
94PCGF2_27294783_Chip-Seq_NPCs_Mouse0.46438749
95BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.46413497
96ETV1_20927104_ChIP-Seq_GIST48_Human0.46004476
97CTCF_20526341_ChIP-Seq_ESCs_Human0.44576922
98ER_23166858_ChIP-Seq_MCF-7_Human0.44467509
99SMC4_20622854_ChIP-Seq_HELA_Human0.44449096
100CRX_20693478_ChIP-Seq_RETINA_Mouse0.44243821

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005085_abnormal_gallbladder_physiolo6.31108116
2MP0005365_abnormal_bile_salt6.06450942
3MP0008875_abnormal_xenobiotic_pharmacok5.73754480
4MP0005360_urolithiasis5.61821513
5MP0003195_calcinosis4.93530797
6MP0003252_abnormal_bile_duct4.25954626
7MP0002138_abnormal_hepatobiliary_system4.14616664
8MP0003868_abnormal_feces_composition3.44875874
9MP0001666_abnormal_nutrient_absorption3.43592976
10MP0009697_abnormal_copulation2.73859495
11MP0010329_abnormal_lipoprotein_level2.69809273
12MP0009840_abnormal_foam_cell2.54376801
13MP0003806_abnormal_nucleotide_metabolis2.34676889
14MP0005332_abnormal_amino_acid2.28003689
15MP0002876_abnormal_thyroid_physiology2.04489787
16MP0002139_abnormal_hepatobiliary_system10.5426858
17MP0003191_abnormal_cellular_cholesterol1.93930005
18MP0000609_abnormal_liver_physiology1.87353156
19MP0002118_abnormal_lipid_homeostasis1.67312635
20MP0001764_abnormal_homeostasis1.52920356
21MP0010368_abnormal_lymphatic_system1.30582754
22MP0009053_abnormal_anal_canal1.30462058
23MP0005408_hypopigmentation1.24206320
24MP0005319_abnormal_enzyme/_coenzyme1.20889078
25MP0003656_abnormal_erythrocyte_physiolo1.15870104
26MP0004019_abnormal_vitamin_homeostasis1.11792765
27MP0005584_abnormal_enzyme/coenzyme_acti1.07422918
28MP0001661_extended_life_span1.07157259
29MP0005451_abnormal_body_composition1.03746992
30MP0000598_abnormal_liver_morphology0.99885457
31MP0009643_abnormal_urine_homeostasis0.97581892
32MP0002132_abnormal_respiratory_system0.93000541
33MP0003186_abnormal_redox_activity0.87124694
34MP0005670_abnormal_white_adipose0.85785538
35MP0009763_increased_sensitivity_to0.83929151
36MP0009642_abnormal_blood_homeostasis0.81573025
37MP0008469_abnormal_protein_level0.80200405
38MP0005376_homeostasis/metabolism_phenot0.78949136
39MP0001915_intracranial_hemorrhage0.78756672
40MP0003011_delayed_dark_adaptation0.78361414
41MP0009764_decreased_sensitivity_to0.77417517
42MP0002971_abnormal_brown_adipose0.71402916
43MP0005636_abnormal_mineral_homeostasis0.70980655
44MP0000604_amyloidosis0.70422953
45MP0005187_abnormal_penis_morphology0.69534793
46MP0003879_abnormal_hair_cell0.68102229
47MP0005395_other_phenotype0.67825528
48MP0005464_abnormal_platelet_physiology0.66864202
49MP0003690_abnormal_glial_cell0.66446225
50MP0003638_abnormal_response/metabolism_0.63604004
51MP0002282_abnormal_trachea_morphology0.63561415
52MP0005535_abnormal_body_temperature0.62514239
53MP0005023_abnormal_wound_healing0.60933353
54MP0002168_other_aberrant_phenotype0.60362289
55MP0008874_decreased_physiological_sensi0.56113763
56MP0005266_abnormal_metabolism0.54837387
57MP0002249_abnormal_larynx_morphology0.54250432
58MP0006036_abnormal_mitochondrial_physio0.53045183
59MP0002078_abnormal_glucose_homeostasis0.52785776
60MP0008872_abnormal_physiological_respon0.52549948
61MP0005334_abnormal_fat_pad0.47468798
62MP0005164_abnormal_response_to0.41242216
63MP0004883_abnormal_blood_vessel0.40884699
64MP0000249_abnormal_blood_vessel0.40335616
65MP0005058_abnormal_lysosome_morphology0.39864867
66MP0009785_altered_susceptibility_to0.37669587
67MP0003718_maternal_effect0.36381104
68MP0000467_abnormal_esophagus_morphology0.35021398
69MP0009765_abnormal_xenobiotic_induced0.34727667
70MP0005647_abnormal_sex_gland0.34525212
71MP0003959_abnormal_lean_body0.34010524
72MP0003075_altered_response_to0.32679228
73MP0003329_amyloid_beta_deposits0.32393375
74MP0004130_abnormal_muscle_cell0.32378569
75MP0001851_eye_inflammation0.32101789
76MP0008873_increased_physiological_sensi0.31815652
77MP0005166_decreased_susceptibility_to0.30622670
78MP0005448_abnormal_energy_balance0.30575281
79MP0002136_abnormal_kidney_physiology0.28196165
80MP0005197_abnormal_uvea_morphology0.26589446
81MP0004142_abnormal_muscle_tone0.23731935
82MP0006035_abnormal_mitochondrial_morpho0.22331644
83MP0003953_abnormal_hormone_level0.22121335
84MP0001881_abnormal_mammary_gland0.21584876
85MP0005220_abnormal_exocrine_pancreas0.21120498
86MP0001756_abnormal_urination0.20602025
87MP0001845_abnormal_inflammatory_respons0.20273077
88MP0004782_abnormal_surfactant_physiolog0.19966952
89MP0000566_synostosis0.19753820
90MP0005084_abnormal_gallbladder_morpholo0.18872130
91MP0002970_abnormal_white_adipose0.18805479
92MP0009115_abnormal_fat_cell0.18487239
93MP0003632_abnormal_nervous_system0.18392950
94MP0003300_gastrointestinal_ulcer0.16804651
95MP0002332_abnormal_exercise_endurance0.16411179
96MP0003436_decreased_susceptibility_to0.16315959
97MP0002928_abnormal_bile_duct0.16297221
98MP0000920_abnormal_myelination0.16268812
99MP0000858_altered_metastatic_potential0.15890136
100MP0003705_abnormal_hypodermis_morpholog0.14822484

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)8.79496413
2Abnormality of aromatic amino acid family metabolism (HP:0004338)8.31340607
3Complement deficiency (HP:0004431)8.18507660
4Hypobetalipoproteinemia (HP:0003563)8.13826764
5Conjugated hyperbilirubinemia (HP:0002908)7.22759889
6Abnormality of complement system (HP:0005339)6.77118916
7Joint hemorrhage (HP:0005261)5.93236483
8Systemic lupus erythematosus (HP:0002725)5.87249172
9Hyperlipoproteinemia (HP:0010980)5.73756153
10Intrahepatic cholestasis (HP:0001406)5.41351866
11Xanthomatosis (HP:0000991)4.80219860
12Abnormality of the common coagulation pathway (HP:0010990)4.71450310
13Hypolipoproteinemia (HP:0010981)4.66942813
14Abnormality of pyrimidine metabolism (HP:0004353)4.60782380
15Glomerulonephritis (HP:0000099)4.44844556
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.02325400
17Spontaneous abortion (HP:0005268)4.00470803
18Fat malabsorption (HP:0002630)3.97906770
19Abnormality of the intrinsic pathway (HP:0010989)3.90112076
20Recurrent gram-negative bacterial infections (HP:0005420)3.77968995
21Abnormality of glutamine family amino acid metabolism (HP:0010902)3.74109478
22Hyperglycinemia (HP:0002154)3.68402540
23Rickets (HP:0002748)3.63331181
24Nephritis (HP:0000123)3.63112393
25Steatorrhea (HP:0002570)3.46606981
26Generalized aminoaciduria (HP:0002909)3.39059130
27Hyperammonemia (HP:0001987)3.33504712
28Abnormality of methionine metabolism (HP:0010901)3.25268787
29Vascular calcification (HP:0004934)3.21211004
30Mitral stenosis (HP:0001718)3.16755015
31Abnormality of glycine metabolism (HP:0010895)3.05829463
32Abnormality of serine family amino acid metabolism (HP:0010894)3.05829463
33Hemorrhage of the eye (HP:0011885)3.04251871
34Hypercholesterolemia (HP:0003124)3.02743309
35Delayed CNS myelination (HP:0002188)3.00976848
36Hyperglycinuria (HP:0003108)2.92581586
37Gingival bleeding (HP:0000225)2.90332446
38Cardiovascular calcification (HP:0011915)2.85039236
39Osteomalacia (HP:0002749)2.84864695
40Hypoalphalipoproteinemia (HP:0003233)2.81998475
41Abnormality of serum amino acid levels (HP:0003112)2.76115961
42Hyperbilirubinemia (HP:0002904)2.65438975
43Abnormality of aspartate family amino acid metabolism (HP:0010899)2.61716237
44Epidermoid cyst (HP:0200040)2.57280425
45Abnormality of nucleobase metabolism (HP:0010932)2.57133007
46Purpura (HP:0000979)2.55018876
47Abnormality of vitamin metabolism (HP:0100508)2.50709588
48Bifid scrotum (HP:0000048)2.46799042
49Reduced antithrombin III activity (HP:0001976)2.46321721
50Thrombophlebitis (HP:0004418)2.46300432
51Hyperphosphaturia (HP:0003109)2.42606148
52Hypochromic microcytic anemia (HP:0004840)2.40805051
53Pulmonary embolism (HP:0002204)2.35730114
54Abnormality of urine glucose concentration (HP:0011016)2.25851981
55Glycosuria (HP:0003076)2.25851981
56Fair hair (HP:0002286)2.25395608
57Abnormality of sulfur amino acid metabolism (HP:0004339)2.20803162
58Metabolic acidosis (HP:0001942)2.20789924
59Menorrhagia (HP:0000132)2.16874192
60Neonatal hypoglycemia (HP:0001998)2.15268557
61Abnormality of the Achilles tendon (HP:0005109)2.13857980
62Hepatocellular carcinoma (HP:0001402)2.13367298
63Irritability (HP:0000737)2.12507614
64Increased mean platelet volume (HP:0011877)2.06719082
65Arthropathy (HP:0003040)2.06538810
66Cholelithiasis (HP:0001081)2.04410191
67Myocardial infarction (HP:0001658)2.00619412
68Abnormality of monocarboxylic acid metabolism (HP:0010996)10.7338142
69Deep venous thrombosis (HP:0002625)10.1919158
70Hypophosphatemic rickets (HP:0004912)1.99470982
71Cholecystitis (HP:0001082)1.99169074
72Abnormal gallbladder physiology (HP:0012438)1.99169074
73Abnormal gallbladder morphology (HP:0012437)1.96619795
74Abnormal urine phosphate concentration (HP:0012599)1.93680422
75Elevated alkaline phosphatase (HP:0003155)1.93525433
76Poikilocytosis (HP:0004447)1.89488787
77Ketosis (HP:0001946)1.89259940
78Abnormal platelet volume (HP:0011876)1.87523642
79Joint swelling (HP:0001386)1.84808603
80Hypochromic anemia (HP:0001931)1.83233462
81Abnormal enzyme/coenzyme activity (HP:0012379)1.82700464
82Abnormality of alkaline phosphatase activity (HP:0004379)1.73540357
83Abnormality of iron homeostasis (HP:0011031)1.72571386
84Impaired platelet aggregation (HP:0003540)1.72443865
85Abnormal platelet function (HP:0011869)1.72443865
86Gangrene (HP:0100758)1.71829024
87Hydroxyprolinuria (HP:0003080)1.68758714
88Abnormality of proline metabolism (HP:0010907)1.68758714
89Abnormality of purine metabolism (HP:0004352)1.63793711
90Atrioventricular block (HP:0001678)1.62908043
91Increased serum ferritin (HP:0003281)1.62413888
92Abnormality of fatty-acid metabolism (HP:0004359)1.60525031
93Abnormal biliary tract physiology (HP:0012439)1.60364476
94Bile duct proliferation (HP:0001408)1.60364476
95Reticulocytosis (HP:0001923)1.60092958
96Lethargy (HP:0001254)1.59923506
97Abnormality of transition element cation homeostasis (HP:0011030)1.57613595
98Skin nodule (HP:0200036)1.56145246
99Alkalosis (HP:0001948)1.56122231
100Neonatal onset (HP:0003623)1.55836298

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.94507390
2RIPK14.02629353
3PIK3CG3.39355465
4FGFR43.30369176
5TYK22.77128283
6MAP3K32.70809029
7PRPF4B2.61845065
8TRIB32.38355710
9MAP3K122.38030927
10IRAK32.33759937
11SIK12.27345090
12PRKACG2.14509821
13PIK3CA2.06104117
14NTRK32.05830590
15TBK11.90000898
16MST1R1.87039136
17BCKDK1.86769505
18NEK91.84761084
19ABL21.82579952
20EPHA31.71349993
21MAPK111.63281011
22MAP2K41.62167430
23PRKAA21.60683742
24MAP3K21.57308440
25FGFR31.57051910
26MYLK1.52023110
27IGF1R1.43513677
28PRKCG1.40012321
29PINK11.36947850
30JAK11.23928018
31PDPK11.18041804
32JAK21.08495198
33PRKCZ1.05396801
34ERBB21.04892262
35NLK1.03815643
36MAP3K11.01118602
37TAOK20.98636949
38MAP3K50.97728555
39TNK20.97632636
40MAPKAPK30.95361966
41MAP3K110.94095061
42KSR20.92132430
43EPHA40.92120529
44FER0.87170819
45ERBB40.82947933
46PRKACA0.80873660
47RET0.80652534
48EIF2AK10.80544161
49EPHB10.79335261
50PRKG10.79257939
51CDK60.78610089
52ZAP700.78049241
53BCR0.76145514
54SCYL20.76124576
55PRKAA10.75411881
56MAP2K30.73376472
57TAOK30.73275840
58PDK10.72967992
59PTK60.72785313
60MAP3K60.70880187
61CAMKK20.69486832
62DYRK1B0.65912275
63CSNK1D0.64106589
64MAP3K140.63804084
65STK160.62865998
66PRKCB0.61673903
67ICK0.61610642
68PRKCA0.60250150
69CSF1R0.59935576
70CAMK2G0.51973033
71SGK30.51601911
72RPS6KA30.51496912
73MAP3K130.50443198
74PIM20.49035801
75MAPK150.47051908
76MAPK40.46513639
77ARAF0.45218458
78SGK10.45151795
79INSRR0.43388428
80TGFBR20.43252000
81PKN20.43162634
82SRC0.42414728
83GSK3A0.41693076
84STK380.41326903
85DAPK20.40811000
86CSNK1E0.39614650
87MET0.39086740
88MAPK70.37134365
89EPHA20.34301171
90PRKACB0.32735119
91MTOR0.31684097
92CHUK0.30847678
93IKBKE0.30753561
94KDR0.30493559
95SGK2230.30115779
96SGK4940.30115779
97CAMK1D0.29442608
98CSNK1A10.29254764
99CSNK2A10.28010921
100SGK20.27789081

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.34163621
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.01683228
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.79171623
4* Retinol metabolism_Homo sapiens_hsa008303.49620468
5Complement and coagulation cascades_Homo sapiens_hsa046103.49605764
6* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.45411655
7* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.04291362
8* Chemical carcinogenesis_Homo sapiens_hsa052043.02613356
9* Caffeine metabolism_Homo sapiens_hsa002322.95157629
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.91180655
11Steroid hormone biosynthesis_Homo sapiens_hsa001402.85540376
12* Drug metabolism - other enzymes_Homo sapiens_hsa009832.74233783
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.70187447
14Fatty acid degradation_Homo sapiens_hsa000712.49108409
15Butanoate metabolism_Homo sapiens_hsa006502.48904328
16Phenylalanine metabolism_Homo sapiens_hsa003602.37887981
17Arginine biosynthesis_Homo sapiens_hsa002202.31076202
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.20838870
19Tyrosine metabolism_Homo sapiens_hsa003502.20687092
20Tryptophan metabolism_Homo sapiens_hsa003802.04524573
21Linoleic acid metabolism_Homo sapiens_hsa005911.95660963
22Bile secretion_Homo sapiens_hsa049761.93664106
23Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.91577894
24Histidine metabolism_Homo sapiens_hsa003401.77517016
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.69391818
26Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.62915984
27Starch and sucrose metabolism_Homo sapiens_hsa005001.62568639
28Cyanoamino acid metabolism_Homo sapiens_hsa004601.48669516
29Vitamin B6 metabolism_Homo sapiens_hsa007501.41251737
30PPAR signaling pathway_Homo sapiens_hsa033201.40381763
31beta-Alanine metabolism_Homo sapiens_hsa004101.40360186
32Peroxisome_Homo sapiens_hsa041461.37971084
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.26944195
34Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.25405630
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25053015
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18281525
37Pyruvate metabolism_Homo sapiens_hsa006201.10643311
38Arachidonic acid metabolism_Homo sapiens_hsa005901.10605147
39Staphylococcus aureus infection_Homo sapiens_hsa051501.06177619
40Propanoate metabolism_Homo sapiens_hsa006401.01815933
41Biosynthesis of amino acids_Homo sapiens_hsa012300.97561106
42Arginine and proline metabolism_Homo sapiens_hsa003300.94430050
43Fatty acid metabolism_Homo sapiens_hsa012120.94119451
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.90644666
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90021609
46Carbon metabolism_Homo sapiens_hsa012000.88253206
47Fat digestion and absorption_Homo sapiens_hsa049750.84577760
48Prion diseases_Homo sapiens_hsa050200.78884409
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76033716
502-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76011087
51ABC transporters_Homo sapiens_hsa020100.73476912
52One carbon pool by folate_Homo sapiens_hsa006700.72763067
53Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69021274
54Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.63864750
55Lysine degradation_Homo sapiens_hsa003100.63162987
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.52943566
57* Metabolic pathways_Homo sapiens_hsa011000.42979561
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42156897
59Sulfur metabolism_Homo sapiens_hsa009200.40542494
60Sulfur relay system_Homo sapiens_hsa041220.33810904
61Fatty acid elongation_Homo sapiens_hsa000620.31180827
62Glycerolipid metabolism_Homo sapiens_hsa005610.27826567
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24686621
64Steroid biosynthesis_Homo sapiens_hsa001000.23727927
65Pertussis_Homo sapiens_hsa051330.22676209
66Pentose phosphate pathway_Homo sapiens_hsa000300.20267906
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19650078
68Fructose and mannose metabolism_Homo sapiens_hsa000510.16841484
69Insulin resistance_Homo sapiens_hsa049310.14586419
70Glycosaminoglycan degradation_Homo sapiens_hsa005310.14239005
71Glutathione metabolism_Homo sapiens_hsa004800.11626064
72Selenocompound metabolism_Homo sapiens_hsa004500.10532880
73Glucagon signaling pathway_Homo sapiens_hsa049220.03136735
74Vitamin digestion and absorption_Homo sapiens_hsa049770.02388437
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.01180531
76N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2688831
77Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2642222
78Hepatitis C_Homo sapiens_hsa05160-0.2573688
79Circadian rhythm_Homo sapiens_hsa04710-0.2554587
80Nitrogen metabolism_Homo sapiens_hsa00910-0.2524045
81Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.2373102
82Ether lipid metabolism_Homo sapiens_hsa00565-0.2233748
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2103687
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.2062036
85Insulin signaling pathway_Homo sapiens_hsa04910-0.1857526
86Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1852362
87Sphingolipid metabolism_Homo sapiens_hsa00600-0.1729978
88Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1435893
89Renin-angiotensin system_Homo sapiens_hsa04614-0.1194972
90Amoebiasis_Homo sapiens_hsa05146-0.1183754
91African trypanosomiasis_Homo sapiens_hsa05143-0.1030398
92Mineral absorption_Homo sapiens_hsa04978-0.0890223
93Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0746629
94Galactose metabolism_Homo sapiens_hsa00052-0.0677986
95AMPK signaling pathway_Homo sapiens_hsa04152-0.0647907
96Fatty acid biosynthesis_Homo sapiens_hsa00061-0.0447551
97Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0385172
98Other glycan degradation_Homo sapiens_hsa00511-0.0214014
99Folate biosynthesis_Homo sapiens_hsa00790-0.0133135
100Serotonergic synapse_Homo sapiens_hsa04726-0.0097396

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