CYP2D6

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 as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1glyoxylate metabolic process (GO:0046487)8.47548854
2complement activation, alternative pathway (GO:0006957)8.27759436
3regulation of fibrinolysis (GO:0051917)8.23104902
4epoxygenase P450 pathway (GO:0019373)8.18361624
5exogenous drug catabolic process (GO:0042738)8.05973506
6negative regulation of fibrinolysis (GO:0051918)7.73040221
7regulation of protein activation cascade (GO:2000257)7.72282508
8omega-hydroxylase P450 pathway (GO:0097267)7.66718579
9* drug catabolic process (GO:0042737)7.61015985
10urea metabolic process (GO:0019627)7.42694249
11protein carboxylation (GO:0018214)7.37499737
12peptidyl-glutamic acid carboxylation (GO:0017187)7.37499737
13erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.31965500
14L-phenylalanine catabolic process (GO:0006559)7.31965500
15regulation of complement activation (GO:0030449)7.25495052
16nitrogen cycle metabolic process (GO:0071941)6.74830634
17urea cycle (GO:0000050)6.69045342
18L-phenylalanine metabolic process (GO:0006558)6.64355005
19erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.64355005
20fibrinolysis (GO:0042730)6.52490859
21regulation of triglyceride catabolic process (GO:0010896)6.20481559
22ethanol oxidation (GO:0006069)6.12211581
23blood coagulation, intrinsic pathway (GO:0007597)6.04959672
24serine family amino acid catabolic process (GO:0009071)6.02912066
25negative regulation of sterol transport (GO:0032372)5.92295954
26negative regulation of cholesterol transport (GO:0032375)5.92295954
27triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.73656263
28bile acid biosynthetic process (GO:0006699)5.66835955
29* drug metabolic process (GO:0017144)5.60771094
30regulation of plasminogen activation (GO:0010755)5.52922259
31cellular glucuronidation (GO:0052695)5.34918745
32phospholipid efflux (GO:0033700)5.23097361
33protein activation cascade (GO:0072376)5.20795387
34bile acid metabolic process (GO:0008206)5.15361380
35aromatic amino acid family catabolic process (GO:0009074)5.13164649
36glucuronate metabolic process (GO:0019585)5.08104351
37uronic acid metabolic process (GO:0006063)5.08104351
38ethanol metabolic process (GO:0006067)4.98118585
39negative regulation of blood coagulation (GO:0030195)4.94339376
40negative regulation of hemostasis (GO:1900047)4.94339376
41complement activation (GO:0006956)4.91083442
42positive regulation of triglyceride lipase activity (GO:0061365)4.90793281
43positive regulation of lipoprotein lipase activity (GO:0051006)4.90793281
44glycine metabolic process (GO:0006544)4.84241158
45complement activation, classical pathway (GO:0006958)4.82507457
46imidazole-containing compound metabolic process (GO:0052803)4.80438981
47acute-phase response (GO:0006953)4.74672112
48bile acid and bile salt transport (GO:0015721)4.74149291
49triglyceride homeostasis (GO:0070328)4.72716504
50acylglycerol homeostasis (GO:0055090)4.72716504
51regulation of cholesterol esterification (GO:0010872)4.69757616
52regulation of humoral immune response (GO:0002920)4.67453620
53plasma lipoprotein particle remodeling (GO:0034369)4.65994036
54protein-lipid complex remodeling (GO:0034368)4.65994036
55macromolecular complex remodeling (GO:0034367)4.65994036
56* oxidative demethylation (GO:0070989)4.64890364
57high-density lipoprotein particle remodeling (GO:0034375)4.50032144
58negative regulation of wound healing (GO:0061045)4.46913196
59negative regulation of coagulation (GO:0050819)4.46475699
60hormone catabolic process (GO:0042447)4.34532239
61arginine metabolic process (GO:0006525)4.31614141
62negative regulation of protein activation cascade (GO:2000258)4.31564633
63positive regulation of hemostasis (GO:1900048)4.31209018
64positive regulation of blood coagulation (GO:0030194)4.31209018
65cholesterol efflux (GO:0033344)4.31107079
66tyrosine metabolic process (GO:0006570)4.20933311
67negative regulation of lipase activity (GO:0060192)4.13163767
68opsonization (GO:0008228)4.07860194
69S-adenosylmethionine metabolic process (GO:0046500)4.04625938
70serine family amino acid metabolic process (GO:0009069)3.99810989
71reverse cholesterol transport (GO:0043691)3.97091933
72positive regulation of coagulation (GO:0050820)3.96377157
73glutamate metabolic process (GO:0006536)3.95392144
74regulation of lipoprotein particle clearance (GO:0010984)3.94004008
75cytolysis (GO:0019835)3.91216830
76alpha-amino acid catabolic process (GO:1901606)3.83921710
77amino-acid betaine metabolic process (GO:0006577)3.82878443
78very-low-density lipoprotein particle assembly (GO:0034379)3.78041413
79acute inflammatory response (GO:0002526)3.74368494
80positive regulation of lipid catabolic process (GO:0050996)3.74358893
81positive regulation of fatty acid biosynthetic process (GO:0045723)3.74063654
82negative regulation of complement activation (GO:0045916)3.73982958
83* phenylpropanoid metabolic process (GO:0009698)3.67248251
84heme transport (GO:0015886)3.65501232
85steroid catabolic process (GO:0006706)3.65169535
86flavonoid metabolic process (GO:0009812)3.62570760
87sulfur amino acid catabolic process (GO:0000098)3.59554377
88plasma lipoprotein particle clearance (GO:0034381)3.57048783
89regulation of bile acid biosynthetic process (GO:0070857)3.56504108
90serine family amino acid biosynthetic process (GO:0009070)3.54974202
91cysteine metabolic process (GO:0006534)3.52888565
92proline metabolic process (GO:0006560)3.50000342
93plasma lipoprotein particle organization (GO:0071827)3.49372854
94disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.44851459
95killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.44851459
96arginine catabolic process (GO:0006527)3.42964836
97regulation of apoptotic cell clearance (GO:2000425)3.41951043
98cellular ketone body metabolic process (GO:0046950)3.41519965
99fat-soluble vitamin biosynthetic process (GO:0042362)3.38176299
100fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.35283654

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse6.79374939
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.54258023
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.75605963
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.22546293
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.99349345
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.40778062
7CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.24358447
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.15610684
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.68715680
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.17759018
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.3820482
12FOXA2_19822575_ChIP-Seq_HepG2_Human1.95402871
13HNF4A_19822575_ChIP-Seq_HepG2_Human1.94828074
14TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.87892065
15IRF8_22096565_ChIP-ChIP_GC-B_Human1.84443387
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.78099071
17MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.69105479
18LXR_22292898_ChIP-Seq_THP-1_Human1.53981677
19ESR1_15608294_ChIP-ChIP_MCF-7_Human1.40995294
20HTT_18923047_ChIP-ChIP_STHdh_Human1.32792878
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.31884165
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.30785205
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.24325403
24RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22170199
25ESR1_20079471_ChIP-ChIP_T-47D_Human1.21478998
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13424652
27RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.12747816
28ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12084455
29IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.08447713
30STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.02046834
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.02007120
32ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.98426446
33SRY_22984422_ChIP-ChIP_TESTIS_Rat0.97521858
34PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96288976
35SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94884076
36SMC4_20622854_ChIP-Seq_HELA_Human0.94637540
37AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.93960447
38CTCF_27219007_Chip-Seq_Bcells_Human0.93743238
39TRIM28_21343339_ChIP-Seq_HEK293_Human0.93404303
40SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92653289
41DNAJC2_21179169_ChIP-ChIP_NT2_Human0.91471863
42ELF1_20517297_ChIP-Seq_JURKAT_Human0.91041794
43GATA1_22025678_ChIP-Seq_K562_Human0.90529832
44PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.89578720
45SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.88946704
46DROSHA_22980978_ChIP-Seq_HELA_Human0.88800435
47ERG_21242973_ChIP-ChIP_JURKAT_Human0.87412333
48E2F1_20622854_ChIP-Seq_HELA_Human0.86173249
49BCOR_27268052_Chip-Seq_Bcells_Human0.85186352
50BCL6_27268052_Chip-Seq_Bcells_Human0.83298329
51CDX2_20551321_ChIP-Seq_CACO-2_Human0.82121893
52GATA1_19941827_ChIP-Seq_MEL_Mouse0.81911295
53RARG_19884340_ChIP-ChIP_MEFs_Mouse0.80777819
54SA1_27219007_Chip-Seq_Bcells_Human0.80307986
55SOX2_27498859_Chip-Seq_STOMACH_Mouse0.78365979
56NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.78086112
57RAC3_21632823_ChIP-Seq_H3396_Human0.77704019
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.77678843
59SOX2_21211035_ChIP-Seq_LN229_Human0.76181727
60E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.76122998
61CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.74936868
62GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.73268062
63BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.70973479
64CTCF_20526341_ChIP-Seq_ESCs_Human0.70601451
65GATA6_25053715_ChIP-Seq_YYC3_Human0.70013590
66P68_20966046_ChIP-Seq_HELA_Human0.69872277
67JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.69639193
68TET1_21451524_ChIP-Seq_MESCs_Mouse0.69205690
69* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.68730817
70* GATA4_25053715_ChIP-Seq_YYC3_Human0.68115462
71PHF8_20622854_ChIP-Seq_HELA_Human0.68012849
72P300_27268052_Chip-Seq_Bcells_Human0.67987254
73P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.66988755
74CEBPB_22108803_ChIP-Seq_LS180_Human0.66505043
75P53_21459846_ChIP-Seq_SAOS-2_Human0.65056360
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.64361322
77CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.63891873
78SPI1_20517297_ChIP-Seq_HL60_Human0.63434418
79RARA_24833708_ChIP-Seq_LIVER_Mouse0.63052892
80FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.62512654
81SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.62451427
82KAP1_22055183_ChIP-Seq_ESCs_Mouse0.62306523
83SA1_27219007_Chip-Seq_ERYTHROID_Human0.61895502
84ERA_21632823_ChIP-Seq_H3396_Human0.61860900
85GATA3_21867929_ChIP-Seq_CD8_Mouse0.61599533
86ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61536231
87MYC_19915707_ChIP-ChIP_AK7_Human0.59425655
88RARB_24833708_ChIP-Seq_LIVER_Mouse0.58273185
89GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.58209312
90ETV2_25802403_ChIP-Seq_MESCs_Mouse0.58108000
91BP1_19119308_ChIP-ChIP_Hs578T_Human0.57645719
92ELK3_25401928_ChIP-Seq_HUVEC_Human0.56945737
93HNFA_21074721_ChIP-Seq_CACO-2_Human0.56037575
94TAF2_19829295_ChIP-Seq_ESCs_Human0.55993916
95SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.55664200
96EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.55634134
97NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.55524102
98RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.55042043
99AR_20517297_ChIP-Seq_VCAP_Human0.53965466
100MYC_19829295_ChIP-Seq_ESCs_Human0.52663409

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system9.24959331
2MP0005360_urolithiasis7.40041604
3MP0005085_abnormal_gallbladder_physiolo6.16065550
4MP0005365_abnormal_bile_salt5.72042255
5MP0003195_calcinosis5.10466185
6MP0002138_abnormal_hepatobiliary_system5.01481972
7MP0008875_abnormal_xenobiotic_pharmacok4.93902378
8MP0003252_abnormal_bile_duct3.63168955
9MP0003868_abnormal_feces_composition3.55675565
10MP0001666_abnormal_nutrient_absorption3.31992312
11MP0009697_abnormal_copulation2.96138550
12MP0010329_abnormal_lipoprotein_level2.77488993
13MP0009840_abnormal_foam_cell2.62192271
14MP0003806_abnormal_nucleotide_metabolis2.32236052
15MP0005332_abnormal_amino_acid2.26015865
16MP0003191_abnormal_cellular_cholesterol2.03752857
17MP0002876_abnormal_thyroid_physiology2.01175227
18MP0001764_abnormal_homeostasis1.86647542
19MP0000609_abnormal_liver_physiology1.82286022
20MP0004019_abnormal_vitamin_homeostasis1.68714143
21MP0002118_abnormal_lipid_homeostasis1.67486746
22MP0010368_abnormal_lymphatic_system1.18228749
23MP0005319_abnormal_enzyme/_coenzyme1.07920460
24MP0000598_abnormal_liver_morphology1.02859929
25MP0005451_abnormal_body_composition1.00991036
26MP0009643_abnormal_urine_homeostasis0.99586687
27MP0000604_amyloidosis0.98325243
28MP0002132_abnormal_respiratory_system0.98030245
29MP0005584_abnormal_enzyme/coenzyme_acti0.93917733
30MP0002971_abnormal_brown_adipose0.93789279
31MP0009053_abnormal_anal_canal0.86793686
32MP0005670_abnormal_white_adipose0.86459133
33MP0008469_abnormal_protein_level0.85233468
34MP0005376_homeostasis/metabolism_phenot0.84727947
35MP0005408_hypopigmentation0.84363553
36MP0009642_abnormal_blood_homeostasis0.84118649
37MP0003879_abnormal_hair_cell0.83788507
38MP0009764_decreased_sensitivity_to0.83592938
39MP0001661_extended_life_span0.81668697
40MP0001915_intracranial_hemorrhage0.79782087
41MP0009763_increased_sensitivity_to0.79766101
42MP0002249_abnormal_larynx_morphology0.74895644
43MP0003690_abnormal_glial_cell0.71238805
44MP0003656_abnormal_erythrocyte_physiolo0.70868709
45MP0005535_abnormal_body_temperature0.69419602
46MP0005058_abnormal_lysosome_morphology0.68697467
47MP0005636_abnormal_mineral_homeostasis0.67391449
48MP0002168_other_aberrant_phenotype0.66104238
49MP0005395_other_phenotype0.65843012
50MP0009785_altered_susceptibility_to0.64312992
51MP0005464_abnormal_platelet_physiology0.61532423
52MP0005187_abnormal_penis_morphology0.61216627
53MP0008874_decreased_physiological_sensi0.60700635
54MP0003186_abnormal_redox_activity0.58155411
55MP0005334_abnormal_fat_pad0.57875274
56MP0003436_decreased_susceptibility_to0.57143815
57MP0002078_abnormal_glucose_homeostasis0.56459482
58MP0003638_abnormal_response/metabolism_0.55373306
59MP0000249_abnormal_blood_vessel0.53023183
60MP0002282_abnormal_trachea_morphology0.51791566
61MP0005166_decreased_susceptibility_to0.51330394
62MP0001986_abnormal_taste_sensitivity0.50046223
63MP0003705_abnormal_hypodermis_morpholog0.49053900
64MP0008872_abnormal_physiological_respon0.48964590
65MP0005266_abnormal_metabolism0.48374032
66MP0005448_abnormal_energy_balance0.42942246
67MP0004883_abnormal_blood_vessel0.40959113
68MP0002136_abnormal_kidney_physiology0.40451176
69MP0003075_altered_response_to0.40421317
70MP0009115_abnormal_fat_cell0.40227062
71MP0001845_abnormal_inflammatory_respons0.39429540
72MP0000566_synostosis0.39257180
73MP0005164_abnormal_response_to0.38991590
74MP0010155_abnormal_intestine_physiology0.38488637
75MP0003011_delayed_dark_adaptation0.37320276
76MP0010386_abnormal_urinary_bladder0.36468157
77MP0005023_abnormal_wound_healing0.36248995
78MP0004130_abnormal_muscle_cell0.34608393
79MP0003183_abnormal_peptide_metabolism0.34250998
80MP0005025_abnormal_response_to0.33936948
81MP0002822_catalepsy0.32173306
82MP0009765_abnormal_xenobiotic_induced0.31473634
83MP0002970_abnormal_white_adipose0.30800352
84MP0005083_abnormal_biliary_tract0.30204817
85MP0002928_abnormal_bile_duct0.29445517
86MP0002419_abnormal_innate_immunity0.29071371
87MP0005409_darkened_coat_color0.28133036
88MP0003953_abnormal_hormone_level0.27783469
89MP0003959_abnormal_lean_body0.27363108
90MP0000467_abnormal_esophagus_morphology0.26133296
91MP0000685_abnormal_immune_system0.25368543
92MP0004782_abnormal_surfactant_physiolog0.25245895
93MP0006036_abnormal_mitochondrial_physio0.24360585
94MP0002089_abnormal_postnatal_growth/wei0.21630147
95MP0001545_abnormal_hematopoietic_system0.21350784
96MP0005397_hematopoietic_system_phenotyp0.21350784
97MP0003329_amyloid_beta_deposits0.21211589
98MP0000003_abnormal_adipose_tissue0.21154300
99MP0005220_abnormal_exocrine_pancreas0.20973106
100MP0001851_eye_inflammation0.19145026

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)9.16164832
2Complement deficiency (HP:0004431)8.89478194
3Hypobetalipoproteinemia (HP:0003563)7.62064811
4Abnormality of aromatic amino acid family metabolism (HP:0004338)7.48282705
5Abnormality of complement system (HP:0005339)7.18811580
6Joint hemorrhage (HP:0005261)6.85798620
7Systemic lupus erythematosus (HP:0002725)6.65425891
8Hyperlipoproteinemia (HP:0010980)5.75397130
9Abnormality of pyrimidine metabolism (HP:0004353)5.58197507
10Conjugated hyperbilirubinemia (HP:0002908)5.40538349
11Glomerulonephritis (HP:0000099)5.15505565
12Xanthomatosis (HP:0000991)5.14311116
13Intrahepatic cholestasis (HP:0001406)4.89724271
14Abnormality of glutamine family amino acid metabolism (HP:0010902)4.43235085
15Hypolipoproteinemia (HP:0010981)4.37265738
16Recurrent gram-negative bacterial infections (HP:0005420)4.28517701
17Abnormality of the common coagulation pathway (HP:0010990)4.14811620
18Abnormality of the intrinsic pathway (HP:0010989)3.75645615
19Nephritis (HP:0000123)3.71571745
20Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.69527977
21Spontaneous abortion (HP:0005268)3.67349091
22Hemorrhage of the eye (HP:0011885)3.38997770
23Hypoalphalipoproteinemia (HP:0003233)3.33370839
24Hyperammonemia (HP:0001987)3.20676562
25Delayed CNS myelination (HP:0002188)3.07279067
26Fat malabsorption (HP:0002630)3.02709818
27Gingival bleeding (HP:0000225)2.98790996
28Abnormality of nucleobase metabolism (HP:0010932)2.95300803
29Menorrhagia (HP:0000132)2.94785965
30Hyperglycinemia (HP:0002154)2.94615404
31Abnormality of serine family amino acid metabolism (HP:0010894)2.79751860
32Abnormality of glycine metabolism (HP:0010895)2.79751860
33Generalized aminoaciduria (HP:0002909)2.78977200
34Purpura (HP:0000979)2.72870248
35Pulmonary embolism (HP:0002204)2.71001616
36Abnormality of methionine metabolism (HP:0010901)2.68969329
37Hypercholesterolemia (HP:0003124)2.62358632
38Cholecystitis (HP:0001082)2.57762166
39Abnormal gallbladder physiology (HP:0012438)2.57762166
40Mitral stenosis (HP:0001718)2.53462194
41Osteomalacia (HP:0002749)2.52416840
42Thrombophlebitis (HP:0004418)2.52313341
43Neonatal hypoglycemia (HP:0001998)2.51449884
44Reduced antithrombin III activity (HP:0001976)2.49452181
45Rickets (HP:0002748)2.45924863
46Vascular calcification (HP:0004934)2.45488149
47Abnormality of serum amino acid levels (HP:0003112)2.45083623
48Epidermoid cyst (HP:0200040)2.45047553
49Hyperglycinuria (HP:0003108)2.41823545
50Fair hair (HP:0002286)2.41698740
51Hepatocellular carcinoma (HP:0001402)2.39254633
52Steatorrhea (HP:0002570)2.32488440
53Abnormality of aspartate family amino acid metabolism (HP:0010899)2.28937295
54Hyperbilirubinemia (HP:0002904)2.28093636
55Abnormality of sulfur amino acid metabolism (HP:0004339)2.19434495
56Elevated alkaline phosphatase (HP:0003155)2.18919498
57Metabolic acidosis (HP:0001942)2.17044278
58Increased serum ferritin (HP:0003281)2.16118943
59Cardiovascular calcification (HP:0011915)2.13937038
60Abnormality of the Achilles tendon (HP:0005109)2.13214980
61Gangrene (HP:0100758)2.09322275
62Cholelithiasis (HP:0001081)2.09237303
63Abnormal enzyme/coenzyme activity (HP:0012379)2.05386073
64Abnormality of alkaline phosphatase activity (HP:0004379)2.02561743
65Abnormality of iron homeostasis (HP:0011031)2.01135335
66Hydroxyprolinuria (HP:0003080)2.00934385
67Abnormality of proline metabolism (HP:0010907)2.00934385
68Myocardial infarction (HP:0001658)2.00041730
69Deep venous thrombosis (HP:0002625)10.6391028
70Abnormality of monocarboxylic acid metabolism (HP:0010996)10.2927982
71Arthropathy (HP:0003040)1.96073110
72Atrioventricular block (HP:0001678)1.94626814
73Irritability (HP:0000737)1.93217798
74Abnormal gallbladder morphology (HP:0012437)1.92390205
75Epistaxis (HP:0000421)1.88601454
76Hyperphosphaturia (HP:0003109)1.87369583
77Hypophosphatemic rickets (HP:0004912)1.80218038
78Alkalosis (HP:0001948)1.78520387
79Ketosis (HP:0001946)1.77186610
80Abnormality of urine glucose concentration (HP:0011016)1.76568658
81Glycosuria (HP:0003076)1.76568658
82Hypochromic microcytic anemia (HP:0004840)1.76412969
83Hypophosphatemia (HP:0002148)1.75208111
84Abnormality of vitamin metabolism (HP:0100508)1.75108521
85Abnormality of purine metabolism (HP:0004352)1.74806480
86Abnormality of transition element cation homeostasis (HP:0011030)1.73762117
87Generalized hypopigmentation of hair (HP:0011358)1.69711724
88Pancreatitis (HP:0001733)1.68088646
89Joint swelling (HP:0001386)1.67146717
90Abnormal urine phosphate concentration (HP:0012599)1.66215926
91Bile duct proliferation (HP:0001408)1.59996963
92Abnormal biliary tract physiology (HP:0012439)1.59996963
93Cerebral palsy (HP:0100021)1.59403725
94Enlarged kidneys (HP:0000105)1.55886899
95Gout (HP:0001997)1.54277141
96Poikilocytosis (HP:0004447)1.53205791
97Blue irides (HP:0000635)1.53176612
98Bifid scrotum (HP:0000048)1.52563256
99Skin nodule (HP:0200036)1.50459834
100Malnutrition (HP:0004395)1.49167393

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN15.91412943
2FGFR44.30651421
3TRIB34.11033967
4RIPK13.12980546
5PRPF4B2.96787586
6SIK12.92434792
7PIK3CG2.61667936
8TYK22.36080226
9MST1R1.98952358
10MAP4K11.81274507
11TNK21.80685409
12FGFR31.77634824
13TBK11.77065849
14PRKACG1.54472866
15MAP3K31.48695146
16MAPK111.47694030
17BCKDK1.37610414
18BLK1.34013942
19EPHB11.31552424
20PIK3CA1.30331275
21PKN21.27991822
22MAP2K41.27148952
23TAOK31.26484074
24EPHA31.25343367
25PDPK11.23239999
26PRKAA21.21154268
27JAK11.19712727
28NTRK31.18960977
29MAP3K61.14124868
30ZAP701.13152878
31GRK61.10526949
32MAPK71.08072999
33MAPK151.07689817
34MAP2K31.06490640
35SIK21.04592292
36CDK121.04282876
37CAMKK11.01778558
38IKBKE0.99954197
39ERBB20.98017583
40ICK0.97902203
41MAPK120.96742110
42PRKCG0.92031207
43CDC42BPA0.91721003
44CSF1R0.90885699
45MAP3K110.90559073
46NLK0.90541218
47PDK10.89009702
48MAP3K10.85777500
49PTK60.84704457
50MAP3K70.82666977
51MARK20.79264283
52PRKCZ0.78887243
53RET0.78880303
54DYRK1B0.78545854
55MAP3K140.72044814
56CDK40.69008581
57JAK20.68601927
58TAOK20.68487012
59MAP2K20.67228916
60IGF1R0.63570905
61PRKAA10.61802451
62ACVR1B0.61716098
63CDK60.61501531
64ABL20.61386781
65CHUK0.58954383
66TAOK10.58896556
67MTOR0.58866478
68MET0.57428720
69FES0.57185086
70PRKACA0.56838179
71IRAK30.55682712
72PRKG10.55585025
73MAPK40.54601895
74SMG10.54377578
75MAP3K130.54369949
76SGK10.53843748
77FGFR20.51958840
78MAP2K60.51881252
79MUSK0.49592931
80STK380.49229482
81CAMK1D0.48356358
82MAP3K20.48211618
83MAPK30.46555628
84SGK4940.46279905
85SGK2230.46279905
86KIT0.46194821
87IRAK10.44464912
88JAK30.44064334
89NEK90.43893987
90CSNK1D0.43126670
91RPS6KA30.42835360
92KDR0.41965256
93PRKCA0.41799827
94IKBKB0.40971827
95PRKD20.40159275
96LCK0.39918406
97AKT30.38701963
98PRKCB0.37422874
99INSRR0.36974958
100SRC0.36869743

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.25579495
2Primary bile acid biosynthesis_Homo sapiens_hsa001204.10887009
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.01553478
4Caffeine metabolism_Homo sapiens_hsa002323.48841907
5Retinol metabolism_Homo sapiens_hsa008303.30216009
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.20631033
7* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.20304400
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002603.05151504
9Arginine biosynthesis_Homo sapiens_hsa002203.01024126
10Chemical carcinogenesis_Homo sapiens_hsa052042.82134511
11* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.68272218
12Steroid hormone biosynthesis_Homo sapiens_hsa001402.61083032
13Phenylalanine metabolism_Homo sapiens_hsa003602.55525468
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.54349516
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.39512164
16Fatty acid degradation_Homo sapiens_hsa000712.37144266
17Tyrosine metabolism_Homo sapiens_hsa003502.20048827
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.19581636
19Histidine metabolism_Homo sapiens_hsa003402.13867360
20Bile secretion_Homo sapiens_hsa049762.04498437
21Linoleic acid metabolism_Homo sapiens_hsa005911.86960832
22Butanoate metabolism_Homo sapiens_hsa006501.70344534
23Cyanoamino acid metabolism_Homo sapiens_hsa004601.67837133
24Tryptophan metabolism_Homo sapiens_hsa003801.62274366
25Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.54926853
26PPAR signaling pathway_Homo sapiens_hsa033201.53687883
27Starch and sucrose metabolism_Homo sapiens_hsa005001.49791554
28Staphylococcus aureus infection_Homo sapiens_hsa051501.49673957
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.47779999
30Peroxisome_Homo sapiens_hsa041461.35076868
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.28049114
32Prion diseases_Homo sapiens_hsa050201.27081911
33Biosynthesis of amino acids_Homo sapiens_hsa012301.26329023
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.26294813
35Cysteine and methionine metabolism_Homo sapiens_hsa002701.25748015
36Arachidonic acid metabolism_Homo sapiens_hsa005901.23036339
37beta-Alanine metabolism_Homo sapiens_hsa004101.15584935
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.13729855
392-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.09176252
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07477351
41Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07180078
42Arginine and proline metabolism_Homo sapiens_hsa003301.05114501
43Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.03349806
44Pyruvate metabolism_Homo sapiens_hsa006201.01061732
45Fat digestion and absorption_Homo sapiens_hsa049750.95146812
46Sulfur relay system_Homo sapiens_hsa041220.85817333
47Vitamin B6 metabolism_Homo sapiens_hsa007500.85539873
48Sulfur metabolism_Homo sapiens_hsa009200.83735901
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.83566012
50Carbon metabolism_Homo sapiens_hsa012000.82533460
51ABC transporters_Homo sapiens_hsa020100.78737287
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.72487041
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64619743
54One carbon pool by folate_Homo sapiens_hsa006700.64146803
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.59783892
56Propanoate metabolism_Homo sapiens_hsa006400.59551448
57Fatty acid metabolism_Homo sapiens_hsa012120.57312371
58Lysine degradation_Homo sapiens_hsa003100.55136470
59Fructose and mannose metabolism_Homo sapiens_hsa000510.50698858
60Pertussis_Homo sapiens_hsa051330.44095421
61Metabolic pathways_Homo sapiens_hsa011000.38561924
62Vitamin digestion and absorption_Homo sapiens_hsa049770.38242841
63Glycerolipid metabolism_Homo sapiens_hsa005610.37679689
64Insulin resistance_Homo sapiens_hsa049310.36306701
65Glycosaminoglycan degradation_Homo sapiens_hsa005310.33703141
66Other glycan degradation_Homo sapiens_hsa005110.29897616
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27557145
68Renin-angiotensin system_Homo sapiens_hsa046140.24324535
69Glucagon signaling pathway_Homo sapiens_hsa049220.23653238
70Pentose phosphate pathway_Homo sapiens_hsa000300.21345447
71Galactose metabolism_Homo sapiens_hsa000520.18030078
72Adipocytokine signaling pathway_Homo sapiens_hsa049200.17872111
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.17116399
74Systemic lupus erythematosus_Homo sapiens_hsa053220.16100948
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.15944224
76Fatty acid elongation_Homo sapiens_hsa000620.11287939
77AMPK signaling pathway_Homo sapiens_hsa041520.05426055
78Amoebiasis_Homo sapiens_hsa051460.05308603
79Mineral absorption_Homo sapiens_hsa049780.03230573
80Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.2339220
81Protein digestion and absorption_Homo sapiens_hsa04974-0.2135640
82Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2098945
83Circadian rhythm_Homo sapiens_hsa04710-0.2046447
84Ether lipid metabolism_Homo sapiens_hsa00565-0.2031535
85Selenocompound metabolism_Homo sapiens_hsa00450-0.1986749
86Hepatitis C_Homo sapiens_hsa05160-0.1972500
87Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1582200
88Type II diabetes mellitus_Homo sapiens_hsa04930-0.1315577
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.1248582
90Sphingolipid metabolism_Homo sapiens_hsa00600-0.1173910
91* Serotonergic synapse_Homo sapiens_hsa04726-0.1149854
92Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1146576
93Folate biosynthesis_Homo sapiens_hsa00790-0.1071849
94Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.1054308
95Steroid biosynthesis_Homo sapiens_hsa00100-0.1028778
96Fatty acid biosynthesis_Homo sapiens_hsa00061-0.1028697
97Insulin signaling pathway_Homo sapiens_hsa04910-0.0957344
98African trypanosomiasis_Homo sapiens_hsa05143-0.0429492
99Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0163503
100Glutathione metabolism_Homo sapiens_hsa00480-0.0026027

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