CYP3A4

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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that 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 glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* exogenous drug catabolic process (GO:0042738)9.87030983
2* drug catabolic process (GO:0042737)8.85913601
3epoxygenase P450 pathway (GO:0019373)8.61283835
4negative regulation of fibrinolysis (GO:0051918)7.95021421
5cellular glucuronidation (GO:0052695)7.87931589
6glucuronate metabolic process (GO:0019585)7.54608507
7uronic acid metabolic process (GO:0006063)7.54608507
8regulation of fibrinolysis (GO:0051917)7.53313087
9omega-hydroxylase P450 pathway (GO:0097267)7.47399446
10glyoxylate metabolic process (GO:0046487)7.25770013
11urea metabolic process (GO:0019627)7.01968951
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.46398977
13L-phenylalanine catabolic process (GO:0006559)6.46398977
14nitrogen cycle metabolic process (GO:0071941)6.40983390
15fibrinolysis (GO:0042730)6.39400247
16* drug metabolic process (GO:0017144)6.27084062
17bile acid biosynthetic process (GO:0006699)6.13015976
18bile acid metabolic process (GO:0008206)6.10190023
19bile acid and bile salt transport (GO:0015721)6.08060791
20L-phenylalanine metabolic process (GO:0006558)6.02499983
21erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.02499983
22negative regulation of sterol transport (GO:0032372)5.85062955
23negative regulation of cholesterol transport (GO:0032375)5.85062955
24phenylpropanoid metabolic process (GO:0009698)5.84780809
25urea cycle (GO:0000050)5.69643514
26ethanol oxidation (GO:0006069)5.60406389
27regulation of triglyceride catabolic process (GO:0010896)5.52450002
28amino-acid betaine metabolic process (GO:0006577)5.40705008
29hormone catabolic process (GO:0042447)5.17479668
30regulation of protein activation cascade (GO:2000257)5.08801595
31daunorubicin metabolic process (GO:0044597)5.00385722
32polyketide metabolic process (GO:0030638)5.00385722
33doxorubicin metabolic process (GO:0044598)5.00385722
34very-low-density lipoprotein particle assembly (GO:0034379)4.92504742
35peptidyl-glutamic acid carboxylation (GO:0017187)4.91115284
36protein carboxylation (GO:0018214)4.91115284
37aromatic amino acid family catabolic process (GO:0009074)4.90619169
38negative regulation of blood coagulation (GO:0030195)4.88807567
39negative regulation of hemostasis (GO:1900047)4.88807567
40phospholipid efflux (GO:0033700)4.85875590
41blood coagulation, intrinsic pathway (GO:0007597)4.84037316
42S-adenosylmethionine metabolic process (GO:0046500)4.76981969
43complement activation, alternative pathway (GO:0006957)4.74677924
44serine family amino acid catabolic process (GO:0009071)4.68029093
45* fat-soluble vitamin biosynthetic process (GO:0042362)4.67438312
46glycine metabolic process (GO:0006544)4.64559928
47regulation of complement activation (GO:0030449)4.64003109
48heme transport (GO:0015886)4.59719497
49fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.56755843
50flavonoid metabolic process (GO:0009812)4.53001075
51intestinal cholesterol absorption (GO:0030299)4.51906081
52ethanol metabolic process (GO:0006067)4.48611924
53negative regulation of coagulation (GO:0050819)4.46098189
54acylglycerol homeostasis (GO:0055090)4.45841257
55triglyceride homeostasis (GO:0070328)4.45841257
56aminoglycoside antibiotic metabolic process (GO:0030647)4.44052268
57regulation of plasminogen activation (GO:0010755)4.34850063
58negative regulation of wound healing (GO:0061045)4.30684289
59primary alcohol catabolic process (GO:0034310)4.30487972
60* oxidative demethylation (GO:0070989)4.27571870
61alpha-linolenic acid metabolic process (GO:0036109)4.23406560
62arginine metabolic process (GO:0006525)4.18582948
63high-density lipoprotein particle remodeling (GO:0034375)4.11456740
64drug transmembrane transport (GO:0006855)4.07770903
65negative regulation of lipase activity (GO:0060192)4.04211114
66cholesterol efflux (GO:0033344)4.03780481
67negative regulation of fatty acid biosynthetic process (GO:0045717)3.96824448
68response to mercury ion (GO:0046689)3.90292915
69regulation of cholesterol esterification (GO:0010872)3.87730783
70L-methionine salvage (GO:0071267)3.81216656
71L-methionine biosynthetic process (GO:0071265)3.81216656
72amino acid salvage (GO:0043102)3.81216656
73intestinal absorption (GO:0050892)3.81145875
74triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.80188255
75* xenobiotic metabolic process (GO:0006805)3.77923989
76macromolecular complex remodeling (GO:0034367)3.77433586
77plasma lipoprotein particle remodeling (GO:0034369)3.77433586
78protein-lipid complex remodeling (GO:0034368)3.77433586
79positive regulation of blood coagulation (GO:0030194)3.74844822
80positive regulation of hemostasis (GO:1900048)3.74844822
81drug transport (GO:0015893)3.73188061
82positive regulation of triglyceride lipase activity (GO:0061365)3.71465612
83positive regulation of lipoprotein lipase activity (GO:0051006)3.71465612
84coenzyme catabolic process (GO:0009109)3.71300552
85serine family amino acid metabolic process (GO:0009069)3.61968550
86tyrosine metabolic process (GO:0006570)3.52606250
87indole-containing compound catabolic process (GO:0042436)3.52148229
88indolalkylamine catabolic process (GO:0046218)3.52148229
89tryptophan catabolic process (GO:0006569)3.52148229
90plasma lipoprotein particle assembly (GO:0034377)3.51661394
91positive regulation of coagulation (GO:0050820)3.50878226
92reverse cholesterol transport (GO:0043691)3.46777072
93monocarboxylic acid catabolic process (GO:0072329)3.44769157
94lipoprotein transport (GO:0042953)3.43969161
95protein activation cascade (GO:0072376)3.43566340
96regulation of bile acid biosynthetic process (GO:0070857)3.42011688
97fatty acid catabolic process (GO:0009062)3.38793969
98regulation of lipoprotein particle clearance (GO:0010984)3.36511153
99negative regulation of lipid transport (GO:0032369)3.34069889
100carnitine metabolic process (GO:0009437)3.33641802

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse6.42550956
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.03912448
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.50182300
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.37968547
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.76665977
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.52501820
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.80317961
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.73773983
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.03341291
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.88318511
11CDX2_20551321_ChIP-Seq_CACO-2_Human2.38869820
12* HNF4A_19822575_ChIP-Seq_HepG2_Human2.19473369
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06500967
14FOXA2_19822575_ChIP-Seq_HepG2_Human2.00878202
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.1327377
16IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.82727820
17ESR1_20079471_ChIP-ChIP_T-47D_Human1.69023117
18GATA4_25053715_ChIP-Seq_YYC3_Human1.62135159
19SOX2_27498859_Chip-Seq_STOMACH_Mouse1.57169518
20AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.55878490
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.54582741
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51372105
23BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.41362814
24GATA6_25053715_ChIP-Seq_YYC3_Human1.36930032
25TRIM28_21343339_ChIP-Seq_HEK293_Human1.35180712
26CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26362075
27HTT_18923047_ChIP-ChIP_STHdh_Human1.25100948
28RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.19656036
29Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.13882512
30FOXA1_25552417_ChIP-Seq_VCAP_Human1.12737733
31MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.11782530
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.11432986
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.10359486
34SOX2_20726797_ChIP-Seq_SW620_Human1.08772019
35FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.05081426
36CBP_21632823_ChIP-Seq_H3396_Human1.02198215
37FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.00997025
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.99433546
39* CEBPB_22108803_ChIP-Seq_LS180_Human0.93686741
40GATA1_22025678_ChIP-Seq_K562_Human0.93384717
41PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.92460898
42PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91730715
43STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.90876209
44RXRA_24833708_ChIP-Seq_LIVER_Mouse0.90099083
45HNFA_21074721_ChIP-Seq_CACO-2_Human0.89855375
46FOXO3_23340844_ChIP-Seq_DLD1_Human0.89302295
47ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86917143
48ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86743055
49KAP1_22055183_ChIP-Seq_ESCs_Mouse0.84808667
50NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.84727915
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.84199483
52CDX2_22108803_ChIP-Seq_LS180_Human0.82320386
53CLOCK_20551151_ChIP-Seq_293T_Human0.82042507
54ESR2_21235772_ChIP-Seq_MCF-7_Human0.81624519
55SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.77939074
56PPAR_26484153_Chip-Seq_NCI-H1993_Human0.77691282
57AR_20517297_ChIP-Seq_VCAP_Human0.75539996
58CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.74521973
59NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.73839960
60* SOX2_21211035_ChIP-Seq_LN229_Human0.73714504
61CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.73639699
62PHF8_20622853_ChIP-Seq_HELA_Human0.73636814
63BCAT_22108803_ChIP-Seq_LS180_Human0.71320817
64NFYA_21822215_ChIP-Seq_K562_Human0.67257491
65LXR_22292898_ChIP-Seq_THP-1_Human0.66021222
66TCF4_18268006_ChIP-ChIP_LS174T_Human0.65960263
67IRF1_19129219_ChIP-ChIP_H3396_Human0.65746629
68NRF2_20460467_ChIP-Seq_MEFs_Mouse0.65735782
69NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.65735782
70KLF5_20875108_ChIP-Seq_MESCs_Mouse0.65463602
71FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.64850430
72SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.64849821
73AUTS2_25519132_ChIP-Seq_293T-REX_Human0.63761988
74P53_21459846_ChIP-Seq_SAOS-2_Human0.63553600
75GATA3_24758297_ChIP-Seq_MCF-7_Human0.63124340
76PCGF2_27294783_Chip-Seq_NPCs_Mouse0.62346951
77BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.61952489
78GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.61300613
79PIAS1_25552417_ChIP-Seq_VCAP_Human0.60883084
80* FOXA1_21572438_ChIP-Seq_LNCaP_Human0.60418868
81NFE2_27457419_Chip-Seq_LIVER_Mouse0.59585390
82* TP53_18474530_ChIP-ChIP_U2OS_Human0.57988256
83BP1_19119308_ChIP-ChIP_Hs578T_Human0.57899949
84CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.57498406
85RARG_19884340_ChIP-ChIP_MEFs_Mouse0.57261982
86E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.56348714
87ERG_20517297_ChIP-Seq_VCAP_Human0.56123437
88ETV2_25802403_ChIP-Seq_MESCs_Mouse0.55360876
89CBX2_22325352_ChIP-Seq_293T-Rex_Human0.54948220
90EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.54808883
91GATA2_21666600_ChIP-Seq_HMVEC_Human0.54706746
92PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.54070694
93CJUN_26792858_Chip-Seq_BT549_Human0.54027373
94GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.53648236
95* TP63_23658742_ChIP-Seq_EP156T_Human0.53077909
96EZH2_27294783_Chip-Seq_NPCs_Mouse0.52813769
97NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.52764500
98SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.52694805
99NCOR_22424771_ChIP-Seq_293T_Human0.52067237
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.51533791

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis6.82581868
2MP0005085_abnormal_gallbladder_physiolo6.50816858
3MP0005365_abnormal_bile_salt6.23555959
4MP0008875_abnormal_xenobiotic_pharmacok4.69492328
5MP0001666_abnormal_nutrient_absorption4.27533981
6MP0003252_abnormal_bile_duct4.12031199
7MP0003195_calcinosis3.77168058
8MP0003868_abnormal_feces_composition3.53818770
9MP0002138_abnormal_hepatobiliary_system3.43799474
10MP0009840_abnormal_foam_cell3.28133781
11MP0010329_abnormal_lipoprotein_level2.71133134
12MP0009697_abnormal_copulation2.36783868
13MP0005332_abnormal_amino_acid2.31416600
14MP0003806_abnormal_nucleotide_metabolis2.26784228
15MP0002139_abnormal_hepatobiliary_system10.4338486
16MP0002876_abnormal_thyroid_physiology1.94523554
17MP0004019_abnormal_vitamin_homeostasis1.90162451
18MP0000609_abnormal_liver_physiology1.78503953
19MP0002118_abnormal_lipid_homeostasis1.69630720
20MP0001764_abnormal_homeostasis1.61368927
21MP0003191_abnormal_cellular_cholesterol1.56603817
22MP0009643_abnormal_urine_homeostasis1.28145720
23MP0003183_abnormal_peptide_metabolism1.22602863
24MP0005319_abnormal_enzyme/_coenzyme1.17865871
25MP0005584_abnormal_enzyme/coenzyme_acti1.12790777
26MP0005408_hypopigmentation1.03840575
27MP0005451_abnormal_body_composition1.01756063
28MP0005670_abnormal_white_adipose0.97876395
29MP0005636_abnormal_mineral_homeostasis0.90027927
30MP0009053_abnormal_anal_canal0.86772982
31MP0000598_abnormal_liver_morphology0.86160895
32MP0003879_abnormal_hair_cell0.84364695
33MP0009642_abnormal_blood_homeostasis0.83405159
34MP0008469_abnormal_protein_level0.80691467
35MP0003718_maternal_effect0.77983849
36MP0003656_abnormal_erythrocyte_physiolo0.77633575
37MP0002971_abnormal_brown_adipose0.75596471
38MP0005535_abnormal_body_temperature0.73920963
39MP0005376_homeostasis/metabolism_phenot0.70758021
40MP0004147_increased_porphyrin_level0.70194385
41MP0009763_increased_sensitivity_to0.66656071
42MP0009764_decreased_sensitivity_to0.66069633
43MP0003638_abnormal_response/metabolism_0.65997369
44MP0010368_abnormal_lymphatic_system0.63857925
45MP0005395_other_phenotype0.62259607
46MP0000604_amyloidosis0.61131643
47MP0010155_abnormal_intestine_physiology0.60557747
48MP0005409_darkened_coat_color0.58984829
49MP0003011_delayed_dark_adaptation0.57723705
50MP0002078_abnormal_glucose_homeostasis0.55964223
51MP0001661_extended_life_span0.55446336
52MP0005448_abnormal_energy_balance0.54551155
53MP0004264_abnormal_extraembryonic_tissu0.54396034
54MP0002136_abnormal_kidney_physiology0.51724079
55MP0003186_abnormal_redox_activity0.51529191
56MP0005334_abnormal_fat_pad0.49151988
57MP0005464_abnormal_platelet_physiology0.47201544
58MP0005023_abnormal_wound_healing0.46529755
59MP0005266_abnormal_metabolism0.45842628
60MP0006036_abnormal_mitochondrial_physio0.45347709
61MP0008872_abnormal_physiological_respon0.44668500
62MP0005166_decreased_susceptibility_to0.44546465
63MP0002132_abnormal_respiratory_system0.43387691
64MP0003300_gastrointestinal_ulcer0.43282302
65MP0000249_abnormal_blood_vessel0.42654695
66MP0003690_abnormal_glial_cell0.42159345
67MP0001915_intracranial_hemorrhage0.41007123
68MP0005187_abnormal_penis_morphology0.39422078
69MP0001756_abnormal_urination0.39384429
70MP0008874_decreased_physiological_sensi0.39154830
71MP0003959_abnormal_lean_body0.38540954
72MP0009115_abnormal_fat_cell0.37253077
73MP0010234_abnormal_vibrissa_follicle0.36036563
74MP0005058_abnormal_lysosome_morphology0.35659436
75MP0009785_altered_susceptibility_to0.34334262
76MP0001845_abnormal_inflammatory_respons0.34162916
77MP0003329_amyloid_beta_deposits0.33158757
78MP0002249_abnormal_larynx_morphology0.32277921
79MP0002168_other_aberrant_phenotype0.31901849
80MP0003953_abnormal_hormone_level0.30800980
81MP0009379_abnormal_foot_pigmentation0.29643372
82MP0001881_abnormal_mammary_gland0.29509592
83MP0000538_abnormal_urinary_bladder0.27637520
84MP0001664_abnormal_digestion0.26680594
85MP0009765_abnormal_xenobiotic_induced0.25648720
86MP0001663_abnormal_digestive_system0.25261525
87MP0000467_abnormal_esophagus_morphology0.25018475
88MP0005164_abnormal_response_to0.23647890
89MP0004883_abnormal_blood_vessel0.22335560
90MP0008873_increased_physiological_sensi0.21820796
91MP0000477_abnormal_intestine_morphology0.21611197
92MP0001765_abnormal_ion_homeostasis0.20971908
93MP0004782_abnormal_surfactant_physiolog0.20404077
94MP0005647_abnormal_sex_gland0.20017304
95MP0001851_eye_inflammation0.19692114
96MP0004043_abnormal_pH_regulation0.19405484
97MP0002970_abnormal_white_adipose0.18612156
98MP0002822_catalepsy0.18178541
99MP0005381_digestive/alimentary_phenotyp0.17398244
100MP0005666_abnormal_adipose_tissue0.17322321

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of monocarboxylic acid metabolism (HP:0010996)9.78322273
2Hypobetalipoproteinemia (HP:0003563)8.98195733
3Deep venous thrombosis (HP:0002625)8.39803114
4Prolonged partial thromboplastin time (HP:0003645)6.99376811
5Abnormality of aromatic amino acid family metabolism (HP:0004338)6.78415884
6Conjugated hyperbilirubinemia (HP:0002908)6.54561131
7Abnormality of glutamine family amino acid metabolism (HP:0010902)6.21549931
8Complement deficiency (HP:0004431)6.08742141
9Systemic lupus erythematosus (HP:0002725)5.17782898
10Abnormality of complement system (HP:0005339)5.17403992
11Intrahepatic cholestasis (HP:0001406)5.11504476
12Fat malabsorption (HP:0002630)5.06115459
13Hyperlipoproteinemia (HP:0010980)5.01683366
14Hypolipoproteinemia (HP:0010981)4.90656754
15Xanthomatosis (HP:0000991)4.84508130
16Joint hemorrhage (HP:0005261)4.52462505
17Steatorrhea (HP:0002570)4.18067709
18Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.12423811
19Hyperglycinuria (HP:0003108)4.07568452
20Abnormality of the common coagulation pathway (HP:0010990)4.06561412
21Abnormality of pyrimidine metabolism (HP:0004353)3.99321968
22Rickets (HP:0002748)3.98470496
23Abnormality of glycine metabolism (HP:0010895)3.78378825
24Abnormality of serine family amino acid metabolism (HP:0010894)3.78378825
25Hydroxyprolinuria (HP:0003080)3.68653268
26Abnormality of proline metabolism (HP:0010907)3.68653268
27Generalized aminoaciduria (HP:0002909)3.68435028
28Hyperammonemia (HP:0001987)3.65736640
29Glomerulonephritis (HP:0000099)3.64443844
30Abnormality of vitamin metabolism (HP:0100508)3.60042608
31Hyperglycinemia (HP:0002154)3.51732144
32Abnormality of urine glucose concentration (HP:0011016)3.33980106
33Glycosuria (HP:0003076)3.33980106
34Nephritis (HP:0000123)3.17934203
35Hemorrhage of the eye (HP:0011885)3.11078366
36Abnormality of the intrinsic pathway (HP:0010989)3.09833731
37Vascular calcification (HP:0004934)3.09816630
38Hyperphosphaturia (HP:0003109)3.09555429
39Spontaneous abortion (HP:0005268)3.00677212
40Osteomalacia (HP:0002749)2.97402615
41Hypercholesterolemia (HP:0003124)2.96743443
42Abnormality of aspartate family amino acid metabolism (HP:0010899)2.94301138
43Malnutrition (HP:0004395)2.87045682
44Epidermoid cyst (HP:0200040)2.85339610
45Delayed CNS myelination (HP:0002188)2.80446488
46Abnormality of nucleobase metabolism (HP:0010932)2.77679303
47Acanthocytosis (HP:0001927)2.74632969
48Cardiovascular calcification (HP:0011915)2.73635617
49Abnormal urine phosphate concentration (HP:0012599)2.69954384
50Abnormality of serum amino acid levels (HP:0003112)2.69089610
51Mitral stenosis (HP:0001718)2.62863373
52Metabolic acidosis (HP:0001942)2.57592678
53Hyperbilirubinemia (HP:0002904)2.57452691
54Recurrent gram-negative bacterial infections (HP:0005420)2.52962308
55Proximal tubulopathy (HP:0000114)2.45553564
56Poikilocytosis (HP:0004447)2.44840423
57Irritability (HP:0000737)2.42351085
58Abnormality of methionine metabolism (HP:0010901)2.37587726
59Gingival bleeding (HP:0000225)2.36692476
60Bifid scrotum (HP:0000048)2.32744071
61Hypophosphatemic rickets (HP:0004912)2.32346482
62Abnormality of sulfur amino acid metabolism (HP:0004339)2.27830621
63Abnormality of purine metabolism (HP:0004352)2.21926414
64Reduced antithrombin III activity (HP:0001976)2.17263484
65Hypophosphatemia (HP:0002148)2.13690492
66Elevated alkaline phosphatase (HP:0003155)2.09760088
67Increased mean platelet volume (HP:0011877)2.09642877
68Abnormal enzyme/coenzyme activity (HP:0012379)2.07856411
69Hypochromic microcytic anemia (HP:0004840)2.05201000
70Hypoalphalipoproteinemia (HP:0003233)2.04000817
71Purpura (HP:0000979)2.03687723
72Alkalosis (HP:0001948)2.01698883
73Hepatocellular carcinoma (HP:0001402)1.99599921
74Abnormality of alkaline phosphatase activity (HP:0004379)1.97883319
75Nausea (HP:0002018)1.91059434
76Abnormal platelet volume (HP:0011876)1.90386887
77Abnormality of fatty-acid metabolism (HP:0004359)1.88820277
78Lethargy (HP:0001254)1.87723653
79Nephrolithiasis (HP:0000787)1.87686848
80Abnormality of the Achilles tendon (HP:0005109)1.86985013
81Hypoglycemic coma (HP:0001325)1.85455392
82Thrombophlebitis (HP:0004418)1.84260092
83Pulmonary embolism (HP:0002204)1.84017538
84Abnormal gallbladder physiology (HP:0012438)1.83135358
85Cholecystitis (HP:0001082)1.83135358
86Pigmentary retinal degeneration (HP:0001146)1.81616619
87Widely patent fontanelles and sutures (HP:0004492)1.80049023
88Ketosis (HP:0001946)1.77550730
89Cholelithiasis (HP:0001081)1.75835207
90Abnormality of the vitamin B12 metabolism (HP:0004341)1.75693654
91Abnormal tarsal ossification (HP:0008369)1.72586988
92Abnormality of dicarboxylic acid metabolism (HP:0010995)1.72097966
93Dicarboxylic aciduria (HP:0003215)1.72097966
94Abnormality of vitamin B metabolism (HP:0004340)1.72084926
95Abnormal gallbladder morphology (HP:0012437)1.71264711
96Skin nodule (HP:0200036)1.70655569
97Hypochromic anemia (HP:0001931)1.68570569
98Joint swelling (HP:0001386)1.68494270
99Abnormal platelet function (HP:0011869)1.68295795
100Impaired platelet aggregation (HP:0003540)1.68295795

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B5.58235398
2ERN14.96388910
3RIPK14.31563105
4MST1R3.39364751
5PIK3CG2.96036903
6MAP3K122.88086910
7FGFR42.54249808
8TYK22.46467669
9PRPF4B2.39978600
10MAP3K22.20835728
11PRKG21.97969204
12MAP3K31.95801332
13EPHA31.84691829
14PRKACG1.79662374
15IRAK31.72154914
16ABL21.68881570
17PIK3CA1.64074714
18MYLK1.63779796
19FGFR31.50857451
20TBK11.48815660
21PRKAA21.41268866
22EPHA41.39658067
23MAPK111.36266404
24NEK91.34443945
25PTK61.29457646
26PDPK11.22635878
27PINK11.21358506
28MAP3K11.14986411
29NLK1.13972322
30EPHA21.13263618
31ERBB21.11945293
32PRKCZ1.08401127
33NTRK31.05864021
34MET1.05590116
35KSR21.05589517
36IGF1R1.04294801
37TESK21.00180310
38JAK10.95651997
39EPHB10.95479598
40MAP3K50.93377727
41MAP2K40.92240451
42JAK20.92011871
43DYRK1B0.89495967
44MAP3K110.88865854
45SIK10.85409182
46FER0.82227010
47PDK10.81664805
48TRIB30.80558766
49MAP3K100.79495659
50PDK20.78032213
51CDK60.77637043
52RET0.76806697
53BCR0.72268892
54GRK60.65517250
55AKT30.62336713
56MAP2K20.61618608
57MAP3K140.61478529
58BCKDK0.60868601
59PRKG10.60841174
60PRKCG0.59992872
61ZAP700.59689588
62* PRKCA0.58656196
63CASK0.58090980
64PIM20.56625821
65OXSR10.55603746
66CAMK2G0.52194797
67PRKCB0.51651118
68MAPKAPK30.51405074
69PRKAA10.49884868
70STK390.49726819
71CSF1R0.49594434
72LMTK20.48115982
73* PRKACA0.48037021
74TAOK20.47888138
75DAPK20.47661340
76SRC0.47372352
77FRK0.46701183
78BMPR20.46541668
79CAMKK20.45292946
80MAP3K60.44235527
81SCYL20.42891419
82MATK0.42482765
83ICK0.40759093
84TAOK10.39017738
85PDGFRA0.38666922
86STK240.38661372
87ERBB40.37271259
88INSRR0.34320869
89PIM10.33484664
90TAOK30.33483583
91GRK10.33183508
92PRKCD0.31946159
93MAPK40.31275191
94GSK3A0.28536985
95RPS6KA30.27051173
96MAP2K60.26835060
97FYN0.25996230
98YES10.24857913
99SGK10.24521475
100TNIK0.24352741

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002325.53397574
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.97943417
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.80371343
4* Retinol metabolism_Homo sapiens_hsa008303.23660757
5* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.18758782
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.03584512
7Pentose and glucuronate interconversions_Homo sapiens_hsa000403.00112951
8* Chemical carcinogenesis_Homo sapiens_hsa052042.90205907
9* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.88304355
10* Drug metabolism - other enzymes_Homo sapiens_hsa009832.81594931
11Complement and coagulation cascades_Homo sapiens_hsa046102.58319689
12* Steroid hormone biosynthesis_Homo sapiens_hsa001402.52024398
13Cyanoamino acid metabolism_Homo sapiens_hsa004602.44731675
14Butanoate metabolism_Homo sapiens_hsa006502.44679559
15Fatty acid degradation_Homo sapiens_hsa000712.23292546
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.20064884
17Arginine biosynthesis_Homo sapiens_hsa002202.16146853
18Phenylalanine metabolism_Homo sapiens_hsa003602.09470478
19Tryptophan metabolism_Homo sapiens_hsa003802.03120001
20Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.93802293
21Starch and sucrose metabolism_Homo sapiens_hsa005001.92266429
22* Bile secretion_Homo sapiens_hsa049761.88887650
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.81918743
24Histidine metabolism_Homo sapiens_hsa003401.76523484
25Fat digestion and absorption_Homo sapiens_hsa049751.72818306
26Tyrosine metabolism_Homo sapiens_hsa003501.71923077
27Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.71499701
28PPAR signaling pathway_Homo sapiens_hsa033201.61303080
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57108190
30* Linoleic acid metabolism_Homo sapiens_hsa005911.51164768
31Peroxisome_Homo sapiens_hsa041461.32987014
32Vitamin B6 metabolism_Homo sapiens_hsa007501.24707482
33beta-Alanine metabolism_Homo sapiens_hsa004101.23723683
34Arachidonic acid metabolism_Homo sapiens_hsa005901.14569095
35Vitamin digestion and absorption_Homo sapiens_hsa049771.09783240
36Fatty acid metabolism_Homo sapiens_hsa012121.08233007
37Arginine and proline metabolism_Homo sapiens_hsa003301.05782038
38Pyruvate metabolism_Homo sapiens_hsa006201.04817835
39Propanoate metabolism_Homo sapiens_hsa006401.04075844
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03733227
41Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97382511
42Cysteine and methionine metabolism_Homo sapiens_hsa002700.91391759
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.89229221
44alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.87531043
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.87164915
46Carbon metabolism_Homo sapiens_hsa012000.81737456
47Renin-angiotensin system_Homo sapiens_hsa046140.79308940
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79024661
49Maturity onset diabetes of the young_Homo sapiens_hsa049500.78358900
50Biosynthesis of amino acids_Homo sapiens_hsa012300.78299307
51Staphylococcus aureus infection_Homo sapiens_hsa051500.78111344
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74978963
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.73577414
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.72888836
55Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.72489289
56ABC transporters_Homo sapiens_hsa020100.70403941
57Sulfur metabolism_Homo sapiens_hsa009200.56085327
58Lysine degradation_Homo sapiens_hsa003100.50849681
59Fructose and mannose metabolism_Homo sapiens_hsa000510.50398713
60Glycerolipid metabolism_Homo sapiens_hsa005610.49659788
61Mineral absorption_Homo sapiens_hsa049780.43280253
62* Metabolic pathways_Homo sapiens_hsa011000.40837044
63Fatty acid elongation_Homo sapiens_hsa000620.38744783
64Galactose metabolism_Homo sapiens_hsa000520.38566055
65One carbon pool by folate_Homo sapiens_hsa006700.35319939
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33849421
67Prion diseases_Homo sapiens_hsa050200.29719538
68Sulfur relay system_Homo sapiens_hsa041220.29523051
69Protein digestion and absorption_Homo sapiens_hsa049740.28726336
70Glutathione metabolism_Homo sapiens_hsa004800.24760120
71Pentose phosphate pathway_Homo sapiens_hsa000300.24503301
72Steroid biosynthesis_Homo sapiens_hsa001000.23744586
73Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.17157532
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16498891
75Insulin resistance_Homo sapiens_hsa049310.15352205
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.12121833
77Fatty acid biosynthesis_Homo sapiens_hsa000610.11475798
78Folate biosynthesis_Homo sapiens_hsa007900.09745793
79Ether lipid metabolism_Homo sapiens_hsa005650.08626623
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.08555699
81Pertussis_Homo sapiens_hsa051330.07623251
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.07615416
83Selenocompound metabolism_Homo sapiens_hsa004500.05003148
84Sphingolipid metabolism_Homo sapiens_hsa006000.03725919
85Serotonergic synapse_Homo sapiens_hsa047260.01000736
86Glucagon signaling pathway_Homo sapiens_hsa049220.00912462
87Glycosaminoglycan degradation_Homo sapiens_hsa005310.00362895
88Nitrogen metabolism_Homo sapiens_hsa00910-0.2571671
89Amoebiasis_Homo sapiens_hsa05146-0.2227440
90Type II diabetes mellitus_Homo sapiens_hsa04930-0.2118190
91Hepatitis C_Homo sapiens_hsa05160-0.2109917
92Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.2060541
93Insulin signaling pathway_Homo sapiens_hsa04910-0.2058121
94Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2027239
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.1769658
96Pancreatic secretion_Homo sapiens_hsa04972-0.1571399
97Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1555742
98African trypanosomiasis_Homo sapiens_hsa05143-0.1081707
99AMPK signaling pathway_Homo sapiens_hsa04152-0.0756017
100Other glycan degradation_Homo sapiens_hsa00511-0.0198939

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