CYP2C19

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 which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)9.98846864
2regulation of protein activation cascade (GO:2000257)8.58290056
3regulation of complement activation (GO:0030449)8.21892705
4regulation of fibrinolysis (GO:0051917)7.66091849
5urea metabolic process (GO:0019627)7.21007917
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.18759412
7L-phenylalanine catabolic process (GO:0006559)7.18759412
8negative regulation of fibrinolysis (GO:0051918)7.18508479
9glyoxylate metabolic process (GO:0046487)6.95379187
10* drug metabolic process (GO:0017144)6.87080696
11oxidative demethylation (GO:0070989)6.66315207
12nitrogen cycle metabolic process (GO:0071941)6.56169052
13L-phenylalanine metabolic process (GO:0006558)6.53974397
14erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.53974397
15ethanol oxidation (GO:0006069)6.40161647
16cellular glucuronidation (GO:0052695)6.39262405
17opsonization (GO:0008228)6.23439114
18uronic acid metabolic process (GO:0006063)6.07500339
19glucuronate metabolic process (GO:0019585)6.07500339
20urea cycle (GO:0000050)6.00583398
21protein carboxylation (GO:0018214)5.99766758
22peptidyl-glutamic acid carboxylation (GO:0017187)5.99766758
23bile acid biosynthetic process (GO:0006699)5.96376528
24aromatic amino acid family catabolic process (GO:0009074)5.79934833
25blood coagulation, intrinsic pathway (GO:0007597)5.71602574
26protein activation cascade (GO:0072376)5.69658867
27complement activation (GO:0006956)5.63676409
28bile acid metabolic process (GO:0008206)5.60285583
29bile acid and bile salt transport (GO:0015721)5.57110760
30fibrinolysis (GO:0042730)5.55063719
31complement activation, classical pathway (GO:0006958)5.48940827
32regulation of triglyceride catabolic process (GO:0010896)5.46868926
33imidazole-containing compound metabolic process (GO:0052803)5.40472463
34serine family amino acid catabolic process (GO:0009071)5.32850599
35triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.26684205
36regulation of humoral immune response (GO:0002920)5.24780212
37cytolysis (GO:0019835)5.21719671
38disruption of cells of other organism involved in symbiotic interaction (GO:0051818)5.12653982
39killing of cells in other organism involved in symbiotic interaction (GO:0051883)5.12653982
40ethanol metabolic process (GO:0006067)5.06787407
41phenylpropanoid metabolic process (GO:0009698)4.90005193
42positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.80973411
43acute-phase response (GO:0006953)4.79209141
44negative regulation of protein activation cascade (GO:2000258)4.75955566
45glycine metabolic process (GO:0006544)4.64077225
46S-adenosylmethionine metabolic process (GO:0046500)4.57272390
47indole-containing compound catabolic process (GO:0042436)4.56535208
48indolalkylamine catabolic process (GO:0046218)4.56535208
49tryptophan catabolic process (GO:0006569)4.56535208
50positive regulation of triglyceride lipase activity (GO:0061365)4.52446600
51positive regulation of lipoprotein lipase activity (GO:0051006)4.52446600
52alkaloid metabolic process (GO:0009820)4.51118306
53flavonoid metabolic process (GO:0009812)4.48590329
54regulation of plasminogen activation (GO:0010755)4.47110746
55negative regulation of blood coagulation (GO:0030195)4.45321912
56negative regulation of hemostasis (GO:1900047)4.45321912
57tyrosine metabolic process (GO:0006570)4.39808189
58negative regulation of sterol transport (GO:0032372)4.39567486
59negative regulation of cholesterol transport (GO:0032375)4.39567486
60glutamate metabolic process (GO:0006536)4.33154359
61triglyceride homeostasis (GO:0070328)4.13193525
62acylglycerol homeostasis (GO:0055090)4.13193525
63hormone catabolic process (GO:0042447)4.07629085
64negative regulation of coagulation (GO:0050819)4.04561427
65negative regulation of wound healing (GO:0061045)3.95326263
66alpha-amino acid catabolic process (GO:1901606)3.93474309
67amino-acid betaine metabolic process (GO:0006577)3.91987370
68sodium-independent organic anion transport (GO:0043252)3.91435365
69arginine metabolic process (GO:0006525)3.89844225
70fat-soluble vitamin biosynthetic process (GO:0042362)3.89330295
71plasma lipoprotein particle remodeling (GO:0034369)3.83003741
72protein-lipid complex remodeling (GO:0034368)3.83003741
73macromolecular complex remodeling (GO:0034367)3.83003741
74tryptophan metabolic process (GO:0006568)3.80327977
75aromatic amino acid family metabolic process (GO:0009072)3.76263613
76oxaloacetate metabolic process (GO:0006107)3.74957270
77positive regulation of hemostasis (GO:1900048)3.63118190
78positive regulation of blood coagulation (GO:0030194)3.63118190
79fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.63112332
80cellular ketone body metabolic process (GO:0046950)3.60774707
81negative regulation of complement activation (GO:0045916)3.60674920
82cholesterol efflux (GO:0033344)3.58646241
83serine family amino acid metabolic process (GO:0009069)3.57418630
84positive regulation of fatty acid biosynthetic process (GO:0045723)3.53455931
85regulation of acute inflammatory response (GO:0002673)3.51422872
86* xenobiotic metabolic process (GO:0006805)3.50062382
87intestinal cholesterol absorption (GO:0030299)3.44579486
88response to mercury ion (GO:0046689)3.42325141
89coenzyme catabolic process (GO:0009109)3.41295297
90acute inflammatory response (GO:0002526)3.38130619
91positive regulation of lipid catabolic process (GO:0050996)3.36348950
92high-density lipoprotein particle remodeling (GO:0034375)3.35071986
93positive regulation of coagulation (GO:0050820)3.34640745
94drug transmembrane transport (GO:0006855)3.34606151
95cellular amino acid catabolic process (GO:0009063)3.34313629
96heme transport (GO:0015886)3.32312225
97* exogenous drug catabolic process (GO:0042738)11.2111275
98* drug catabolic process (GO:0042737)10.2190538
99* epoxygenase P450 pathway (GO:0019373)10.0387693
100* omega-hydroxylase P450 pathway (GO:0097267)10.0035048

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse6.92511245
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.60057569
3LXR_22158963_ChIP-Seq_LIVER_Mouse5.76189779
4FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.66344952
5PPARA_22158963_ChIP-Seq_LIVER_Mouse5.50360065
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.52990526
7CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.28963631
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.95112078
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.92443786
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.18720325
11FOXA2_19822575_ChIP-Seq_HepG2_Human2.10300865
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.07093780
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06431323
14HNF4A_19822575_ChIP-Seq_HepG2_Human2.04333846
15ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.9234698
16HTT_18923047_ChIP-ChIP_STHdh_Human1.98400957
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.91578465
18BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.50960795
19AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.39905685
20TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36659126
21ESR1_20079471_ChIP-ChIP_T-47D_Human1.35458652
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.25902966
23GATA1_22025678_ChIP-Seq_K562_Human1.18458131
24GATA4_25053715_ChIP-Seq_YYC3_Human1.14120818
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.13835915
26BCAT_22108803_ChIP-Seq_LS180_Human1.13220666
27CDX2_20551321_ChIP-Seq_CACO-2_Human1.07820810
28FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.05530645
29POU3F2_20337985_ChIP-ChIP_501MEL_Human1.03655617
30PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02515370
31* CBP_21632823_ChIP-Seq_H3396_Human0.97990531
32TRIM28_21343339_ChIP-Seq_HEK293_Human0.97242866
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.97203141
34IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.94823877
35PIAS1_25552417_ChIP-Seq_VCAP_Human0.94367465
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.92825025
37IRF1_19129219_ChIP-ChIP_H3396_Human0.92439340
38HNFA_21074721_ChIP-Seq_CACO-2_Human0.90657802
39CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.88916143
40ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86088534
41* PHF8_20622853_ChIP-Seq_HELA_Human0.83772925
42SOX2_27498859_Chip-Seq_STOMACH_Mouse0.83573229
43FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.82999705
44STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.82889557
45NFE2_27457419_Chip-Seq_LIVER_Mouse0.82513356
46* NFYA_21822215_ChIP-Seq_K562_Human0.82270362
47RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.82218992
48TP53_18474530_ChIP-ChIP_U2OS_Human0.81494848
49ESR1_15608294_ChIP-ChIP_MCF-7_Human0.81453813
50FOXA1_25552417_ChIP-Seq_VCAP_Human0.81381959
51ER_23166858_ChIP-Seq_MCF-7_Human0.78897926
52EZH2_27294783_Chip-Seq_NPCs_Mouse0.77762333
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.77710624
54CDX2_22108803_ChIP-Seq_LS180_Human0.76601765
55TCF4_18268006_ChIP-ChIP_LS174T_Human0.74583335
56IRF8_22096565_ChIP-ChIP_GC-B_Human0.74539430
57CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.74312386
58KAP1_22055183_ChIP-Seq_ESCs_Mouse0.73957645
59GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.71583891
60* GATA6_25053715_ChIP-Seq_YYC3_Human0.70747934
61AR_20517297_ChIP-Seq_VCAP_Human0.69891242
62NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69610730
63NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69610730
64CEBPB_22108803_ChIP-Seq_LS180_Human0.68653957
65Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.68484956
66ETV2_25802403_ChIP-Seq_MESCs_Mouse0.66848350
67GATA6_21074721_ChIP-Seq_CACO-2_Human0.66669742
68PCGF2_27294783_Chip-Seq_NPCs_Mouse0.66035308
69RXRA_24833708_ChIP-Seq_LIVER_Mouse0.65776145
70AUTS2_25519132_ChIP-Seq_293T-REX_Human0.65701183
71SUZ12_27294783_Chip-Seq_NPCs_Mouse0.64852957
72SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.63663361
73IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.63455735
74CBP_20019798_ChIP-Seq_JUKART_Human0.63455735
75CRX_20693478_ChIP-Seq_RETINA_Mouse0.63283451
76SALL4_18804426_ChIP-ChIP_XEN_Mouse0.62655646
77CBX2_22325352_ChIP-Seq_293T-Rex_Human0.62220139
78ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61545126
79OCT4_18555785_Chip-Seq_ESCs_Mouse0.61246549
80ETV1_20927104_ChIP-Seq_GIST48_Human0.60821964
81PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.60204135
82NFYB_21822215_ChIP-Seq_K562_Human0.60164598
83IGF1R_20145208_ChIP-Seq_DFB_Human0.60094483
84SOX2_20726797_ChIP-Seq_SW620_Human0.59432753
85OCT4_21477851_ChIP-Seq_ESCs_Mouse0.58400957
86TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.56904858
87ERG_20517297_ChIP-Seq_VCAP_Human0.55631361
88SOX2_21211035_ChIP-Seq_LN229_Human0.55097403
89CDX2_19796622_ChIP-Seq_MESCs_Mouse0.53462904
90CLOCK_20551151_ChIP-Seq_293T_Human0.52971426
91PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.52938910
92KLF5_20875108_ChIP-Seq_MESCs_Mouse0.52733256
93SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.52260908
94* STAT3_23295773_ChIP-Seq_U87_Human0.50889014
95MYC_19829295_ChIP-Seq_ESCs_Human0.50755234
96TP63_23658742_ChIP-Seq_EP156T_Human0.50056280
97ESRRB_18555785_Chip-Seq_ESCs_Mouse0.49886176
98TCF4_22108803_ChIP-Seq_LS180_Human0.49531527
99SMAD1_18555785_Chip-Seq_ESCs_Mouse0.49222478
100PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.49013272

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system9.85480335
2MP0005085_abnormal_gallbladder_physiolo6.74567528
3MP0005360_urolithiasis6.07867326
4MP0005365_abnormal_bile_salt5.87065094
5MP0008875_abnormal_xenobiotic_pharmacok5.83767055
6MP0003252_abnormal_bile_duct4.89387709
7MP0002138_abnormal_hepatobiliary_system4.62255787
8MP0003195_calcinosis4.45744776
9MP0001666_abnormal_nutrient_absorption3.33640161
10MP0010329_abnormal_lipoprotein_level2.79785426
11MP0003868_abnormal_feces_composition2.71140542
12MP0003191_abnormal_cellular_cholesterol2.67123757
13MP0010368_abnormal_lymphatic_system2.40155033
14MP0005332_abnormal_amino_acid2.38971777
15MP0009697_abnormal_copulation1.99375021
16MP0005670_abnormal_white_adipose1.94624699
17MP0000609_abnormal_liver_physiology1.87051322
18MP0003806_abnormal_nucleotide_metabolis1.83910359
19MP0002118_abnormal_lipid_homeostasis1.67955251
20MP0009840_abnormal_foam_cell1.65375442
21MP0001764_abnormal_homeostasis1.44560370
22MP0001661_extended_life_span1.31830529
23MP0004019_abnormal_vitamin_homeostasis1.31696748
24MP0002132_abnormal_respiratory_system1.30389617
25MP0002876_abnormal_thyroid_physiology1.30168285
26MP0009053_abnormal_anal_canal1.14569726
27MP0005319_abnormal_enzyme/_coenzyme1.11844572
28MP0009764_decreased_sensitivity_to1.09588989
29MP0000598_abnormal_liver_morphology1.07019223
30MP0003656_abnormal_erythrocyte_physiolo1.05188014
31MP0009643_abnormal_urine_homeostasis1.02280805
32MP0005584_abnormal_enzyme/coenzyme_acti1.00551379
33MP0005408_hypopigmentation0.99110780
34MP0009763_increased_sensitivity_to0.94518596
35MP0002282_abnormal_trachea_morphology0.91051255
36MP0002971_abnormal_brown_adipose0.89669233
37MP0008872_abnormal_physiological_respon0.82816210
38MP0005451_abnormal_body_composition0.82657995
39MP0009642_abnormal_blood_homeostasis0.82260564
40MP0005636_abnormal_mineral_homeostasis0.81311553
41MP0008469_abnormal_protein_level0.79398383
42MP0005376_homeostasis/metabolism_phenot0.75393425
43MP0003690_abnormal_glial_cell0.74423942
44MP0001915_intracranial_hemorrhage0.71387674
45MP0005187_abnormal_penis_morphology0.71001145
46MP0005535_abnormal_body_temperature0.70936420
47MP0002249_abnormal_larynx_morphology0.68712855
48MP0005166_decreased_susceptibility_to0.66245135
49MP0005266_abnormal_metabolism0.64533878
50MP0005023_abnormal_wound_healing0.62975327
51MP0003879_abnormal_hair_cell0.62210141
52MP0005395_other_phenotype0.61464223
53MP0002078_abnormal_glucose_homeostasis0.61285165
54MP0000604_amyloidosis0.58969858
55MP0005334_abnormal_fat_pad0.56693608
56MP0002168_other_aberrant_phenotype0.55831800
57MP0005464_abnormal_platelet_physiology0.53722835
58MP0003011_delayed_dark_adaptation0.53188084
59MP0009765_abnormal_xenobiotic_induced0.50540496
60MP0004130_abnormal_muscle_cell0.50304201
61MP0004782_abnormal_surfactant_physiolog0.48616679
62MP0002332_abnormal_exercise_endurance0.48154035
63MP0008874_decreased_physiological_sensi0.46766301
64MP0003638_abnormal_response/metabolism_0.44160219
65MP0005448_abnormal_energy_balance0.43637958
66MP0003186_abnormal_redox_activity0.43416059
67MP0002136_abnormal_kidney_physiology0.41859021
68MP0005220_abnormal_exocrine_pancreas0.41158240
69MP0000467_abnormal_esophagus_morphology0.40474311
70MP0009785_altered_susceptibility_to0.38590911
71MP0005666_abnormal_adipose_tissue0.38084514
72MP0003183_abnormal_peptide_metabolism0.36515037
73MP0000249_abnormal_blood_vessel0.35509522
74MP0009115_abnormal_fat_cell0.33360959
75MP0010155_abnormal_intestine_physiology0.32557057
76MP0000639_abnormal_adrenal_gland0.31922775
77MP0003075_altered_response_to0.31912300
78MP0003705_abnormal_hypodermis_morpholog0.31874320
79MP0005164_abnormal_response_to0.30386139
80MP0003718_maternal_effect0.29516205
81MP0003953_abnormal_hormone_level0.28935862
82MP0006036_abnormal_mitochondrial_physio0.27942879
83MP0005397_hematopoietic_system_phenotyp0.27340682
84MP0001545_abnormal_hematopoietic_system0.27340682
85MP0001756_abnormal_urination0.26706643
86MP0001881_abnormal_mammary_gland0.26493110
87MP0004883_abnormal_blood_vessel0.25103844
88MP0000566_synostosis0.24978729
89MP0001851_eye_inflammation0.24842350
90MP0001845_abnormal_inflammatory_respons0.24801377
91MP0005409_darkened_coat_color0.24429997
92MP0005083_abnormal_biliary_tract0.23708475
93MP0002128_abnormal_blood_circulation0.23424497
94MP0008775_abnormal_heart_ventricle0.22465877
95MP0005595_abnormal_vascular_smooth0.19804117
96MP0005647_abnormal_sex_gland0.19673261
97MP0003632_abnormal_nervous_system0.19572911
98MP0002928_abnormal_bile_duct0.18534205
99MP0002135_abnormal_kidney_morphology0.18308413
100MP0004272_abnormal_basement_membrane0.17261058

Predicted human phenotypes

RankGene SetZ-score
1Conjugated hyperbilirubinemia (HP:0002908)9.77802744
2Abnormality of complement system (HP:0005339)9.23958225
3Abnormality of monocarboxylic acid metabolism (HP:0010996)9.14227108
4Prolonged partial thromboplastin time (HP:0003645)8.58221248
5Deep venous thrombosis (HP:0002625)8.49828878
6Hypobetalipoproteinemia (HP:0003563)7.70692282
7Abnormality of aromatic amino acid family metabolism (HP:0004338)6.99372933
8Intrahepatic cholestasis (HP:0001406)6.50441475
9Systemic lupus erythematosus (HP:0002725)6.21364808
10Joint hemorrhage (HP:0005261)5.95138625
11Recurrent gram-negative bacterial infections (HP:0005420)5.58709190
12Glomerulonephritis (HP:0000099)5.52259231
13Hyperlipoproteinemia (HP:0010980)5.38339806
14Abnormality of pyrimidine metabolism (HP:0004353)4.95413437
15Spontaneous abortion (HP:0005268)4.66553944
16Abnormality of the common coagulation pathway (HP:0010990)4.53011869
17Abnormality of the intrinsic pathway (HP:0010989)4.41241642
18Hypolipoproteinemia (HP:0010981)4.40923205
19Xanthomatosis (HP:0000991)4.30620848
20Nephritis (HP:0000123)4.09022000
21Fat malabsorption (HP:0002630)3.95778140
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.79580409
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.69164157
24Hypoalphalipoproteinemia (HP:0003233)3.58884865
25Abnormality of methionine metabolism (HP:0010901)3.36357393
26Hyperammonemia (HP:0001987)3.20293992
27Hyperbilirubinemia (HP:0002904)3.03524430
28Hepatocellular carcinoma (HP:0001402)3.01458966
29Gingival bleeding (HP:0000225)2.99261993
30Hyperglycinemia (HP:0002154)2.94297610
31Generalized aminoaciduria (HP:0002909)2.84242143
32Abnormality of glycine metabolism (HP:0010895)2.83798650
33Abnormality of serine family amino acid metabolism (HP:0010894)2.83798650
34Abnormality of aspartate family amino acid metabolism (HP:0010899)2.83026565
35Osteomalacia (HP:0002749)2.77828188
36Hypercholesterolemia (HP:0003124)2.75735735
37Abnormality of nucleobase metabolism (HP:0010932)2.73741654
38Neonatal hypoglycemia (HP:0001998)2.73686877
39Delayed CNS myelination (HP:0002188)2.65609951
40Thrombophlebitis (HP:0004418)2.64542080
41Cholelithiasis (HP:0001081)2.59903565
42Epidermoid cyst (HP:0200040)2.57788249
43Abnormality of sulfur amino acid metabolism (HP:0004339)2.56959418
44Hyperglycinuria (HP:0003108)2.49884722
45Vascular calcification (HP:0004934)2.49322537
46Mitral stenosis (HP:0001718)2.46480462
47Abnormal gallbladder morphology (HP:0012437)2.41703190
48Elevated alkaline phosphatase (HP:0003155)2.39848952
49Rickets (HP:0002748)2.35623485
50Steatorrhea (HP:0002570)2.32927832
51Abnormality of serum amino acid levels (HP:0003112)2.31869482
52Hemorrhage of the eye (HP:0011885)2.30010075
53Fair hair (HP:0002286)2.28925213
54Abnormal enzyme/coenzyme activity (HP:0012379)2.23069634
55Cardiovascular calcification (HP:0011915)2.21582151
56Abnormality of alkaline phosphatase activity (HP:0004379)2.19378361
57Pulmonary embolism (HP:0002204)2.10905804
58Metabolic acidosis (HP:0001942)2.05868901
59Purpura (HP:0000979)2.03256487
60Joint swelling (HP:0001386)2.01593947
61Complement deficiency (HP:0004431)11.5657939
62Hyperphosphaturia (HP:0003109)1.99906491
63Glycosuria (HP:0003076)1.92485367
64Abnormality of urine glucose concentration (HP:0011016)1.92485367
65Ketosis (HP:0001946)1.90565473
66Abnormality of vitamin metabolism (HP:0100508)1.87357151
67Myocardial infarction (HP:0001658)1.87055396
68Poikilocytosis (HP:0004447)1.86620000
69Menorrhagia (HP:0000132)1.84072641
70Hydroxyprolinuria (HP:0003080)1.80823947
71Abnormality of proline metabolism (HP:0010907)1.80823947
72Hypophosphatemic rickets (HP:0004912)1.80659306
73Increased serum ferritin (HP:0003281)1.74557169
74Abnormal gallbladder physiology (HP:0012438)1.72907506
75Cholecystitis (HP:0001082)1.72907506
76Increased serum pyruvate (HP:0003542)1.72663156
77Abnormality of purine metabolism (HP:0004352)1.72142088
78Acanthocytosis (HP:0001927)1.71709639
79Epistaxis (HP:0000421)1.71374424
80Abnormality of the gallbladder (HP:0005264)1.68392133
81Irritability (HP:0000737)1.68343394
82Abnormal urine phosphate concentration (HP:0012599)1.67871687
83Abnormal biliary tract physiology (HP:0012439)1.67482020
84Bile duct proliferation (HP:0001408)1.67482020
85Increased mean platelet volume (HP:0011877)1.66150270
86Abnormality of iron homeostasis (HP:0011031)1.63042616
87Skin nodule (HP:0200036)1.59037271
88Generalized hypopigmentation of hair (HP:0011358)1.58627260
89Abnormality of transition element cation homeostasis (HP:0011030)1.54202406
90Amyloidosis (HP:0011034)1.54113508
91Gout (HP:0001997)1.54012590
92Death in childhood (HP:0003819)1.51975417
93Lethargy (HP:0001254)1.50747594
94Enlarged kidneys (HP:0000105)1.50610561
95Gangrene (HP:0100758)1.49637287
96Abnormal platelet volume (HP:0011876)1.49593599
97Pancreatitis (HP:0001733)1.49510548
98Nephrolithiasis (HP:0000787)1.48836181
99Abnormality of glycolysis (HP:0004366)1.48603151
100Reduced antithrombin III activity (HP:0001976)1.48416946

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG6.08456645
2ERN14.23240875
3FGFR43.68303597
4EPHA33.40420571
5RIPK12.96896218
6SIK12.44350037
7TYK22.42276207
8AKT32.31095029
9NLK2.26293383
10ACVR1B2.21815304
11PRKAA22.21611832
12PRKACG2.20806913
13TRIB32.19400585
14MST1R2.13100315
15PIK3CA1.97471786
16MAPK111.93350226
17FGFR31.81410978
18EPHB11.77844623
19PRPF4B1.74871440
20FER1.74773747
21BCKDK1.62741274
22NEK91.56378169
23JAK11.51153659
24MAP3K21.49700724
25MAP2K41.49552751
26FRK1.44402712
27TAOK31.42436773
28TNK21.40211025
29IGF1R1.36979731
30PDPK11.29849347
31MAP3K31.28385287
32CAMKK21.24343012
33KDR1.11843191
34MYLK1.11612803
35ERBB21.10472390
36RET1.07811598
37PDK11.02502346
38TIE10.98288974
39JAK20.94722295
40MET0.94356178
41PRKAA10.90425323
42ABL20.89425766
43BRSK20.88968528
44ICK0.88958991
45PRKCZ0.88099791
46NTRK30.86474479
47IRAK10.84219717
48EPHA40.83660765
49CAMK1D0.83352853
50SGK20.82035175
51PRKACA0.77854927
52MAP3K10.76252142
53SGK30.74320060
54STK390.74286841
55SCYL20.73531398
56CSF1R0.72726683
57PRKG10.70031909
58PRKCG0.68273439
59SGK2230.68009766
60SGK4940.68009766
61INSRR0.67663136
62PKN20.67430259
63MAP3K60.66539462
64CDK60.62819898
65PRKG20.58929656
66BLK0.58407648
67PDK20.57385434
68PRKCA0.54453487
69DAPK20.50570412
70WNK30.49031358
71DYRK1B0.48954109
72EPHA20.47541623
73PRKACB0.47484641
74MAPK40.47037181
75CSNK1E0.46683795
76PRKCB0.42563118
77SRC0.42080763
78RPS6KA30.41517441
79ERBB40.37660405
80PTK60.36644242
81MAPK70.36437968
82CAMK1G0.35866333
83GRK10.35853037
84CAMKK10.35117365
85TBK10.33078075
86TNIK0.32174493
87ZAP700.31465206
88CSNK1D0.30823327
89GSK3A0.27694247
90MAPK120.27176916
91RPS6KB10.26239186
92MTOR0.25016039
93CAMK2G0.24719556
94CSNK2A10.24510133
95KSR20.23900995
96MAPK30.22588786
97MAP3K50.22533686
98LATS10.21381729
99PRKCE0.21329927
100PINK10.20951197

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002324.43547353
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.09366097
3Complement and coagulation cascades_Homo sapiens_hsa046103.97089046
4* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.53224241
5Retinol metabolism_Homo sapiens_hsa008303.52320158
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.42389211
7Primary bile acid biosynthesis_Homo sapiens_hsa001203.26219125
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.87504618
9* Chemical carcinogenesis_Homo sapiens_hsa052042.81030641
10Drug metabolism - other enzymes_Homo sapiens_hsa009832.64022764
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.62374565
12Arginine biosynthesis_Homo sapiens_hsa002202.54088875
13Steroid hormone biosynthesis_Homo sapiens_hsa001402.47587164
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.44649664
15Fatty acid degradation_Homo sapiens_hsa000712.43598407
16Phenylalanine metabolism_Homo sapiens_hsa003602.32964315
17Tyrosine metabolism_Homo sapiens_hsa003502.31605423
18Histidine metabolism_Homo sapiens_hsa003402.09759698
19Tryptophan metabolism_Homo sapiens_hsa003802.06028588
20Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.00201627
21Vitamin B6 metabolism_Homo sapiens_hsa007501.98130031
22Bile secretion_Homo sapiens_hsa049761.90674638
23* Linoleic acid metabolism_Homo sapiens_hsa005911.85948069
24Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.85810651
25Butanoate metabolism_Homo sapiens_hsa006501.85404420
26Starch and sucrose metabolism_Homo sapiens_hsa005001.68418379
27Prion diseases_Homo sapiens_hsa050201.64058712
28Cyanoamino acid metabolism_Homo sapiens_hsa004601.59617807
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57120008
30Staphylococcus aureus infection_Homo sapiens_hsa051501.44967592
31PPAR signaling pathway_Homo sapiens_hsa033201.42565504
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.35612430
33beta-Alanine metabolism_Homo sapiens_hsa004101.26702823
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18974247
35* Arachidonic acid metabolism_Homo sapiens_hsa005901.17688126
36ABC transporters_Homo sapiens_hsa020101.16166129
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.12808599
38Peroxisome_Homo sapiens_hsa041461.11896970
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.10523234
40Biosynthesis of amino acids_Homo sapiens_hsa012301.09834741
41Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.08829252
42Pyruvate metabolism_Homo sapiens_hsa006201.03588558
43Fat digestion and absorption_Homo sapiens_hsa049750.96151138
44Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.94847529
45Propanoate metabolism_Homo sapiens_hsa006400.93150995
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.92978075
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.92593849
48Arginine and proline metabolism_Homo sapiens_hsa003300.92439696
49Carbon metabolism_Homo sapiens_hsa012000.79421600
50Fatty acid metabolism_Homo sapiens_hsa012120.78139263
51Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.77054368
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.75486042
53One carbon pool by folate_Homo sapiens_hsa006700.71844719
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.64495556
55Vitamin digestion and absorption_Homo sapiens_hsa049770.48984603
56* Metabolic pathways_Homo sapiens_hsa011000.39443166
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38923168
58Lysine degradation_Homo sapiens_hsa003100.38278429
59Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35518988
60Pertussis_Homo sapiens_hsa051330.33388246
61Glycerolipid metabolism_Homo sapiens_hsa005610.32139411
62Insulin resistance_Homo sapiens_hsa049310.31968285
63Systemic lupus erythematosus_Homo sapiens_hsa053220.28219994
64Sulfur metabolism_Homo sapiens_hsa009200.27874883
65Renin-angiotensin system_Homo sapiens_hsa046140.27094950
66Fatty acid biosynthesis_Homo sapiens_hsa000610.25022307
67Glucagon signaling pathway_Homo sapiens_hsa049220.24979319
68Adipocytokine signaling pathway_Homo sapiens_hsa049200.21988668
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.21545484
70Fructose and mannose metabolism_Homo sapiens_hsa000510.20464307
71Mineral absorption_Homo sapiens_hsa049780.18967850
72Pentose phosphate pathway_Homo sapiens_hsa000300.15952113
73Sulfur relay system_Homo sapiens_hsa041220.13207091
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.12297718
75Amoebiasis_Homo sapiens_hsa051460.09457590
76Galactose metabolism_Homo sapiens_hsa000520.09233683
77AMPK signaling pathway_Homo sapiens_hsa041520.09210978
78Fatty acid elongation_Homo sapiens_hsa000620.07078211
79FoxO signaling pathway_Homo sapiens_hsa04068-0.2695107
80Type II diabetes mellitus_Homo sapiens_hsa04930-0.2575413
81Sphingolipid metabolism_Homo sapiens_hsa00600-0.2555463
82Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.2522227
83Ether lipid metabolism_Homo sapiens_hsa00565-0.2455458
84Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2357871
85Ovarian steroidogenesis_Homo sapiens_hsa04913-0.2345567
86Circadian rhythm_Homo sapiens_hsa04710-0.2194368
87Other glycan degradation_Homo sapiens_hsa00511-0.2031161
88African trypanosomiasis_Homo sapiens_hsa05143-0.2008756
89Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1978080
90Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1583151
91Steroid biosynthesis_Homo sapiens_hsa00100-0.1358965
92Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.1338323
93Insulin signaling pathway_Homo sapiens_hsa04910-0.1317584
94Protein digestion and absorption_Homo sapiens_hsa04974-0.0758085
95Folate biosynthesis_Homo sapiens_hsa00790-0.0653371
96Nitrogen metabolism_Homo sapiens_hsa00910-0.0564883
97Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0494209
98Glutathione metabolism_Homo sapiens_hsa00480-0.0445080
99* Serotonergic synapse_Homo sapiens_hsa04726-0.0435035
100Selenocompound metabolism_Homo sapiens_hsa00450-0.0394623

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