CYP4V2

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 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)5.99836432
2drug catabolic process (GO:0042737)5.77522722
3epoxygenase P450 pathway (GO:0019373)5.07758454
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.73830129
5L-phenylalanine catabolic process (GO:0006559)4.73830129
6cellular ketone body metabolic process (GO:0046950)4.73748109
7omega-hydroxylase P450 pathway (GO:0097267)4.56896813
8ketone body metabolic process (GO:1902224)4.33199076
9regulation of fibrinolysis (GO:0051917)4.23946599
10S-adenosylmethionine metabolic process (GO:0046500)4.17786193
11aromatic amino acid family catabolic process (GO:0009074)4.15134390
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.12705389
13L-phenylalanine metabolic process (GO:0006558)4.12705389
14ethanol oxidation (GO:0006069)3.96472833
15drug metabolic process (GO:0017144)3.81474762
16cellular glucuronidation (GO:0052695)3.75783771
17oxidative demethylation (GO:0070989)3.73243845
18regulation of protein activation cascade (GO:2000257)3.73222911
19phenylpropanoid metabolic process (GO:0009698)3.69819757
20regulation of complement activation (GO:0030449)3.63878323
21glucuronate metabolic process (GO:0019585)3.63399430
22uronic acid metabolic process (GO:0006063)3.63399430
23positive regulation of glycolytic process (GO:0045821)3.62983069
24tryptophan catabolic process (GO:0006569)3.62960400
25indole-containing compound catabolic process (GO:0042436)3.62960400
26indolalkylamine catabolic process (GO:0046218)3.62960400
27bile acid biosynthetic process (GO:0006699)3.60675799
28regulation of glucokinase activity (GO:0033131)3.59049001
29regulation of hexokinase activity (GO:1903299)3.59049001
30water-soluble vitamin biosynthetic process (GO:0042364)3.44774130
31complement activation, alternative pathway (GO:0006957)3.41447913
32negative regulation of protein activation cascade (GO:2000258)3.40876714
33bile acid metabolic process (GO:0008206)3.37819981
34glyoxylate metabolic process (GO:0046487)3.32972508
35negative regulation of complement activation (GO:0045916)3.30909046
36heme transport (GO:0015886)3.30453975
37flavonoid metabolic process (GO:0009812)3.28062420
38ethanol metabolic process (GO:0006067)3.23202898
39organic cation transport (GO:0015695)3.22904457
40negative regulation of fibrinolysis (GO:0051918)3.20405660
41xenobiotic catabolic process (GO:0042178)3.11678592
42triglyceride homeostasis (GO:0070328)3.10801255
43acylglycerol homeostasis (GO:0055090)3.10801255
44coenzyme catabolic process (GO:0009109)3.10606856
45regulation of triglyceride catabolic process (GO:0010896)3.09658887
46intestinal cholesterol absorption (GO:0030299)3.06898108
47bile acid and bile salt transport (GO:0015721)3.06508426
48regulation of type B pancreatic cell apoptotic process (GO:2000674)2.99822858
49endocrine pancreas development (GO:0031018)2.96910717
50tryptophan metabolic process (GO:0006568)2.94702972
51reverse cholesterol transport (GO:0043691)2.92311297
52amino-acid betaine metabolic process (GO:0006577)2.90632468
53protein carboxylation (GO:0018214)2.90607013
54peptidyl-glutamic acid carboxylation (GO:0017187)2.90607013
55high-density lipoprotein particle remodeling (GO:0034375)2.90336685
56drug transmembrane transport (GO:0006855)2.88746171
57indolalkylamine metabolic process (GO:0006586)2.83834884
58alanine transport (GO:0032328)2.83403660
59blood coagulation, intrinsic pathway (GO:0007597)2.82792572
60macroautophagy (GO:0016236)2.82447551
61vitamin biosynthetic process (GO:0009110)2.81252254
62aromatic amino acid family metabolic process (GO:0009072)2.80536512
63alkaloid metabolic process (GO:0009820)2.76759261
64amino acid salvage (GO:0043102)2.74878682
65L-methionine salvage (GO:0071267)2.74878682
66L-methionine biosynthetic process (GO:0071265)2.74878682
67peptide hormone processing (GO:0016486)2.74417501
68negative regulation of humoral immune response (GO:0002921)2.70632602
69iron coordination entity transport (GO:1901678)2.70042446
70cholesterol efflux (GO:0033344)2.64903738
71arginine metabolic process (GO:0006525)2.64051804
72negative regulation of cytosolic calcium ion concentration (GO:0051481)2.63448969
73xenobiotic metabolic process (GO:0006805)2.59976731
74protein activation cascade (GO:0072376)2.58821122
75dopamine transport (GO:0015872)2.58679190
76benzene-containing compound metabolic process (GO:0042537)2.58124632
77regulation of energy homeostasis (GO:2000505)2.56398267
78triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.55175957
79cellular response to ethanol (GO:0071361)2.54410072
80protein-lipid complex remodeling (GO:0034368)2.53554342
81macromolecular complex remodeling (GO:0034367)2.53554342
82plasma lipoprotein particle remodeling (GO:0034369)2.53554342
83proline transport (GO:0015824)2.52731326
84drug transport (GO:0015893)2.50653819
85fibrinolysis (GO:0042730)2.50624572
86urate metabolic process (GO:0046415)2.49754439
87kynurenine metabolic process (GO:0070189)2.48492318
88negative regulation of hormone biosynthetic process (GO:0032353)2.47885455
89intestinal absorption (GO:0050892)2.47448875
90negative regulation of sterol transport (GO:0032372)2.46759080
91negative regulation of cholesterol transport (GO:0032375)2.46759080
92phospholipid homeostasis (GO:0055091)2.46724236
93positive regulation of insulin secretion (GO:0032024)2.46623490
94positive regulation of peptide hormone secretion (GO:0090277)2.45647120
95primary alcohol metabolic process (GO:0034308)2.45335009
96zinc ion homeostasis (GO:0055069)2.44924297
97negative regulation of hormone metabolic process (GO:0032351)2.44534366
98nitric oxide mediated signal transduction (GO:0007263)2.43421652
99retinal metabolic process (GO:0042574)2.42806908
100complement activation, classical pathway (GO:0006958)2.41048840

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.09793476
2EGR1_23403033_ChIP-Seq_LIVER_Mouse2.58391626
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.44093088
4IRF8_22096565_ChIP-ChIP_GC-B_Human2.41421999
5GBX2_23144817_ChIP-Seq_PC3_Human2.22400255
6POU3F2_20337985_ChIP-ChIP_501MEL_Human2.18437854
7LXR_22158963_ChIP-Seq_LIVER_Mouse2.11367714
8ZNF274_21170338_ChIP-Seq_K562_Hela2.11312493
9ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.07545376
10ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94440767
11RXR_22158963_ChIP-Seq_LIVER_Mouse1.93813390
12PIAS1_25552417_ChIP-Seq_VCAP_Human1.86345400
13AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.82388838
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.78215269
15EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.75858317
16CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.74516840
17BCAT_22108803_ChIP-Seq_LS180_Human1.74472012
18FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.66936864
19ER_23166858_ChIP-Seq_MCF-7_Human1.66156284
20CDX2_19796622_ChIP-Seq_MESCs_Mouse1.63731454
21FLI1_27457419_Chip-Seq_LIVER_Mouse1.63578556
22TAF15_26573619_Chip-Seq_HEK293_Human1.62762880
23IGF1R_20145208_ChIP-Seq_DFB_Human1.61483123
24VDR_22108803_ChIP-Seq_LS180_Human1.61277599
25PPARA_22158963_ChIP-Seq_LIVER_Mouse1.55397448
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.55299972
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.53845452
28SMAD4_21799915_ChIP-Seq_A2780_Human1.46758427
29STAT3_23295773_ChIP-Seq_U87_Human1.46649335
30BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.46075885
31* P300_19829295_ChIP-Seq_ESCs_Human1.44558500
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42531283
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.41192635
34PCGF2_27294783_Chip-Seq_ESCs_Mouse1.40108382
35CDX2_22108803_ChIP-Seq_LS180_Human1.38417201
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.37068438
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.36920980
38AR_25329375_ChIP-Seq_VCAP_Human1.36846544
39SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32813666
40EZH2_27294783_Chip-Seq_NPCs_Mouse1.32107945
41TCF4_23295773_ChIP-Seq_U87_Human1.31086456
42FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.29756901
43MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29240305
44NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28593740
45FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.25070713
46AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.24830112
47SUZ12_27294783_Chip-Seq_NPCs_Mouse1.23437489
48NFE2_27457419_Chip-Seq_LIVER_Mouse1.22530866
49CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21519834
50FUS_26573619_Chip-Seq_HEK293_Human1.21324152
51UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20670155
52ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20491511
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.19726463
54* SOX2_19829295_ChIP-Seq_ESCs_Human1.18396775
55* NANOG_19829295_ChIP-Seq_ESCs_Human1.18396775
56IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18288201
57CBP_20019798_ChIP-Seq_JUKART_Human1.18288201
58EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.18221847
59TCF4_22108803_ChIP-Seq_LS180_Human1.17669418
60ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.16854966
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.16680288
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.16439577
63NANOG_18555785_Chip-Seq_ESCs_Mouse1.15747699
64HTT_18923047_ChIP-ChIP_STHdh_Human1.14488491
65FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13017277
66STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.12064053
67P53_22387025_ChIP-Seq_ESCs_Mouse1.11505822
68CRX_20693478_ChIP-Seq_RETINA_Mouse1.11393644
69PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11245941
70TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10162195
71OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09575106
72CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.09152139
73PCGF2_27294783_Chip-Seq_NPCs_Mouse1.07941138
74EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07885494
75CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.07052336
76SMAD4_21741376_ChIP-Seq_EPCs_Human1.06829426
77FOXA2_19822575_ChIP-Seq_HepG2_Human1.05706541
78FOXA1_27270436_Chip-Seq_PROSTATE_Human1.05228460
79FOXA1_25329375_ChIP-Seq_VCAP_Human1.05228460
80AHR_22903824_ChIP-Seq_MCF-7_Human1.05120583
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.04345211
82OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03704011
83STAT3_18555785_Chip-Seq_ESCs_Mouse1.03672579
84FOXA1_25552417_ChIP-Seq_VCAP_Human1.03561391
85* AR_20517297_ChIP-Seq_VCAP_Human1.03291890
86NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.02420015
87NRF2_20460467_ChIP-Seq_MEFs_Mouse1.02420015
88NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02336599
89PRDM14_20953172_ChIP-Seq_ESCs_Human1.01632856
90FOXM1_26456572_ChIP-Seq_MCF-7_Human1.01485616
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01484198
92TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01403040
93RUNX2_22187159_ChIP-Seq_PCA_Human1.01097495
94KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00263287
95E2F1_18555785_Chip-Seq_ESCs_Mouse0.99736608
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.99443700
97SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.99334418
98ETV2_25802403_ChIP-Seq_MESCs_Mouse0.98763414
99CMYC_18555785_Chip-Seq_ESCs_Mouse0.98038974
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.97290070

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.51741624
2MP0003195_calcinosis5.09163899
3MP0005365_abnormal_bile_salt4.19095578
4MP0008875_abnormal_xenobiotic_pharmacok3.63482813
5MP0005085_abnormal_gallbladder_physiolo3.60143320
6MP0005360_urolithiasis3.22069486
7MP0002876_abnormal_thyroid_physiology3.06396465
8MP0010329_abnormal_lipoprotein_level2.82463208
9MP0003252_abnormal_bile_duct2.75613519
10MP0002837_dystrophic_cardiac_calcinosis2.34748758
11MP0002909_abnormal_adrenal_gland2.30313854
12MP0002138_abnormal_hepatobiliary_system2.28816550
13MP0005332_abnormal_amino_acid2.25310275
14MP0009780_abnormal_chondrocyte_physiolo2.16955458
15MP0001666_abnormal_nutrient_absorption2.14514665
16MP0003868_abnormal_feces_composition2.06070351
17MP0004019_abnormal_vitamin_homeostasis2.03332590
18MP0000569_abnormal_digit_pigmentation1.97794222
19MP0004043_abnormal_pH_regulation1.80292901
20MP0001764_abnormal_homeostasis1.76889371
21MP0005379_endocrine/exocrine_gland_phen1.75599607
22MP0001501_abnormal_sleep_pattern1.67386302
23MP0005645_abnormal_hypothalamus_physiol1.67208536
24MP0002693_abnormal_pancreas_physiology1.66046422
25MP0005646_abnormal_pituitary_gland1.61714576
26MP0001944_abnormal_pancreas_morphology1.61697920
27MP0002118_abnormal_lipid_homeostasis1.57029810
28MP0001756_abnormal_urination1.56767973
29MP0010386_abnormal_urinary_bladder1.56560434
30MP0003011_delayed_dark_adaptation1.41842999
31MP0003283_abnormal_digestive_organ1.38943033
32MP0003172_abnormal_lysosome_physiology1.37719065
33MP0010234_abnormal_vibrissa_follicle1.35391505
34MP0005551_abnormal_eye_electrophysiolog1.33377729
35MP0002078_abnormal_glucose_homeostasis1.33068795
36MP0001661_extended_life_span1.32561680
37MP0002163_abnormal_gland_morphology1.31354103
38MP0001986_abnormal_taste_sensitivity1.31140772
39MP0009643_abnormal_urine_homeostasis1.30962701
40MP0005220_abnormal_exocrine_pancreas1.19795612
41MP0008872_abnormal_physiological_respon1.17650068
42MP0009046_muscle_twitch1.17355242
43MP0005636_abnormal_mineral_homeostasis1.16626900
44MP0002254_reproductive_system_inflammat1.16366997
45MP0001765_abnormal_ion_homeostasis1.15120463
46MP0005174_abnormal_tail_pigmentation1.14227394
47MP0002928_abnormal_bile_duct1.13996606
48MP0000013_abnormal_adipose_tissue1.13175414
49MP0003787_abnormal_imprinting1.11895722
50MP0005535_abnormal_body_temperature1.10172069
51MP0005448_abnormal_energy_balance1.09984234
52MP0009840_abnormal_foam_cell1.09123953
53MP0008877_abnormal_DNA_methylation1.07341268
54MP0000609_abnormal_liver_physiology1.04704156
55MP0003806_abnormal_nucleotide_metabolis1.03955541
56MP0002638_abnormal_pupillary_reflex1.00326388
57MP0009745_abnormal_behavioral_response0.99643857
58MP0003879_abnormal_hair_cell0.97505525
59MP0003953_abnormal_hormone_level0.95006588
60MP0003646_muscle_fatigue0.92126132
61MP0000427_abnormal_hair_cycle0.90144765
62MP0001984_abnormal_olfaction0.88983706
63MP0003690_abnormal_glial_cell0.88669315
64MP0003633_abnormal_nervous_system0.84847770
65MP0005084_abnormal_gallbladder_morpholo0.83361136
66MP0000538_abnormal_urinary_bladder0.82942655
67MP0000015_abnormal_ear_pigmentation0.82282992
68MP0003045_fibrosis0.82264707
69MP0002168_other_aberrant_phenotype0.81069079
70MP0005319_abnormal_enzyme/_coenzyme0.80412506
71MP0009642_abnormal_blood_homeostasis0.80187879
72MP0005167_abnormal_blood-brain_barrier0.79666050
73MP0002136_abnormal_kidney_physiology0.79196373
74MP0000230_abnormal_systemic_arterial0.77027683
75MP0005386_behavior/neurological_phenoty0.76998867
76MP0004924_abnormal_behavior0.76998867
77MP0002064_seizures0.75755778
78MP0002102_abnormal_ear_morphology0.75236047
79MP0005253_abnormal_eye_physiology0.73819718
80MP0008775_abnormal_heart_ventricle0.73345101
81MP0000371_diluted_coat_color0.72036459
82MP0005376_homeostasis/metabolism_phenot0.71444460
83MP0002229_neurodegeneration0.71375177
84MP0002272_abnormal_nervous_system0.69777897
85MP0002166_altered_tumor_susceptibility0.69333979
86MP0002971_abnormal_brown_adipose0.66869185
87MP0006036_abnormal_mitochondrial_physio0.66736019
88MP0004147_increased_porphyrin_level0.66679045
89MP0004130_abnormal_muscle_cell0.66591650
90MP0005408_hypopigmentation0.66071518
91MP0008469_abnormal_protein_level0.65800061
92MP0004885_abnormal_endolymph0.65255913
93MP0010678_abnormal_skin_adnexa0.65232735
94MP0002090_abnormal_vision0.64432231
95MP0006054_spinal_hemorrhage0.64109206
96MP0004142_abnormal_muscle_tone0.61168995
97MP0001664_abnormal_digestion0.60766010
98MP0002557_abnormal_social/conspecific_i0.60175016
99MP0003724_increased_susceptibility_to0.59906254
100MP0006082_CNS_inflammation0.59684919

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)4.55863142
2Prolonged partial thromboplastin time (HP:0003645)4.48896460
3Hypobetalipoproteinemia (HP:0003563)4.15979209
4Hypoglycemic coma (HP:0001325)4.00734254
5Ketoacidosis (HP:0001993)3.98910054
6Complement deficiency (HP:0004431)3.79132774
7Ketosis (HP:0001946)3.45596044
8Hypoglycemic seizures (HP:0002173)3.41573062
9Abnormality of monocarboxylic acid metabolism (HP:0010996)3.35880947
10Hyperglycemia (HP:0003074)3.27668417
11Large for gestational age (HP:0001520)3.16430236
12Hyperinsulinemic hypoglycemia (HP:0000825)3.08761229
13Xanthomatosis (HP:0000991)3.04854783
14Vascular calcification (HP:0004934)3.04521212
15Conjugated hyperbilirubinemia (HP:0002908)3.00343902
16Hyperlipoproteinemia (HP:0010980)2.99899934
17Hypothermia (HP:0002045)2.99661056
18Abnormality of the renal cortex (HP:0011035)2.85453866
19Abnormality of glutamine family amino acid metabolism (HP:0010902)2.83562885
20Deep venous thrombosis (HP:0002625)2.74689638
21Congenital sensorineural hearing impairment (HP:0008527)2.67689171
22Systemic lupus erythematosus (HP:0002725)2.66456555
23Decreased circulating renin level (HP:0003351)2.65504544
24Cardiovascular calcification (HP:0011915)2.63511950
25Late onset (HP:0003584)2.62747717
26Joint hemorrhage (HP:0005261)2.61515815
27Abnormality of complement system (HP:0005339)2.61126519
28Abnormality of urine glucose concentration (HP:0011016)2.59081290
29Glycosuria (HP:0003076)2.59081290
30Fair hair (HP:0002286)2.58728668
31Glomerulonephritis (HP:0000099)2.56595875
32Abnormality of vitamin metabolism (HP:0100508)2.56186666
33Abnormal drinking behavior (HP:0030082)2.55787413
34Polydipsia (HP:0001959)2.55787413
35Renal cortical cysts (HP:0000803)2.54244101
36Proximal tubulopathy (HP:0000114)2.51838931
37Hyperventilation (HP:0002883)2.49965705
38Fat malabsorption (HP:0002630)2.43710673
39Generalized hypopigmentation of hair (HP:0011358)2.34010699
40Hypomagnesemia (HP:0002917)2.33818130
41Attenuation of retinal blood vessels (HP:0007843)2.33743699
42Pancreatic cysts (HP:0001737)2.33515051
43Steatorrhea (HP:0002570)2.32264163
44Abnormality of vitamin B metabolism (HP:0004340)2.32118203
45Abnormality of proline metabolism (HP:0010907)2.31845680
46Hydroxyprolinuria (HP:0003080)2.31845680
47Increased CSF protein (HP:0002922)2.27608900
48Hemiparesis (HP:0001269)2.25551820
49Hamartoma of the eye (HP:0010568)2.25178181
50Symptomatic seizures (HP:0011145)2.22752298
51Mitral stenosis (HP:0001718)2.21960108
52Tubular atrophy (HP:0000092)2.18969320
53Intrahepatic cholestasis (HP:0001406)2.15539738
54Hypolipoproteinemia (HP:0010981)2.15284534
55Pancreatic fibrosis (HP:0100732)2.14721854
56Congenital stationary night blindness (HP:0007642)2.14616158
57Generalized aminoaciduria (HP:0002909)2.13915107
58Epidermoid cyst (HP:0200040)2.13429014
59Thyroiditis (HP:0100646)2.12715009
60Increased circulating renin level (HP:0000848)2.10641349
61Abnormality of renin-angiotensin system (HP:0000847)2.09872491
62Metabolic alkalosis (HP:0200114)2.09547145
63Conjunctival hamartoma (HP:0100780)2.09189008
64Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.07878582
65Intestinal atresia (HP:0011100)2.06994774
66Arthropathy (HP:0003040)2.06258700
67Abnormality of mucopolysaccharide metabolism (HP:0011020)2.03027526
68Abnormality of polysaccharide metabolism (HP:0011012)2.03027526
69Abnormality of glycosaminoglycan metabolism (HP:0004371)2.03027526
70Abnormal biliary tract physiology (HP:0012439)2.02546947
71Bile duct proliferation (HP:0001408)2.02546947
72EEG with generalized epileptiform discharges (HP:0011198)2.00655923
73Albinism (HP:0001022)2.00598162
74Abnormality of renal excretion (HP:0011036)2.00310125
75Medial flaring of the eyebrow (HP:0010747)2.00257616
76Abnormality of midbrain morphology (HP:0002418)1.97845376
77Molar tooth sign on MRI (HP:0002419)1.97845376
78Nephronophthisis (HP:0000090)1.97426376
79Abnormality of the pancreatic islet cells (HP:0006476)1.96986559
80Abnormality of endocrine pancreas physiology (HP:0012093)1.96986559
81Hypsarrhythmia (HP:0002521)1.96965192
82Polyuria (HP:0000103)1.96409511
83Abnormal urine output (HP:0012590)1.95549606
84Epileptiform EEG discharges (HP:0011182)1.94447980
85Furrowed tongue (HP:0000221)1.92850492
86Gaze-evoked nystagmus (HP:0000640)1.90131405
87True hermaphroditism (HP:0010459)1.89643047
88Facial shape deformation (HP:0011334)1.89139574
89Potter facies (HP:0002009)1.89139574
90Alkalosis (HP:0001948)1.88618381
91Mucopolysacchariduria (HP:0008155)1.87409065
92Urinary glycosaminoglycan excretion (HP:0003541)1.87409065
93Hematochezia (HP:0002573)1.85065964
94Metabolic acidosis (HP:0001942)1.84486527
95Abnormality of aspartate family amino acid metabolism (HP:0010899)1.83762862
96Abnormality of the renal medulla (HP:0100957)1.83321235
97Decreased electroretinogram (ERG) amplitude (HP:0000654)1.83072124
98Vacuolated lymphocytes (HP:0001922)1.82244554
99Febrile seizures (HP:0002373)1.81399569
100Abolished electroretinogram (ERG) (HP:0000550)1.81187968

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.26412852
2FGFR22.90017255
3ACVR1B2.89593383
4ADRBK22.81138091
5GRK12.74565275
6PINK12.28581847
7DAPK22.09430227
8TAOK31.98025294
9INSRR1.89132677
10STK241.88426997
11NTRK31.84879538
12PHKG21.84011027
13PHKG11.84011027
14TRPM71.80459637
15FGFR31.76492103
16MAP4K21.73449180
17MST41.66936091
18CAMKK21.59397801
19NLK1.51657279
20BMPR1B1.50675420
21OXSR11.47226097
22PTK2B1.42782171
23BRSK21.33782210
24AKT31.33286921
25PAK31.32772340
26STK391.31016150
27WNK31.28383595
28PRKAA21.28243222
29MAP3K21.27996829
30FER1.14915258
31HIPK21.14557778
32WNK41.13234457
33PRKCE1.03546925
34EPHA31.02744930
35MAP2K60.99448228
36TNIK0.92120946
37PIK3CA0.89035977
38TNK20.88958519
39STK38L0.88425596
40TXK0.83967841
41NUAK10.82714530
42STK110.81040431
43ADRBK10.80540423
44ERBB30.79601481
45JAK10.76579229
46PRKAA10.74884738
47PRKCG0.74511920
48SGK20.72925832
49TYK20.72532368
50IRAK10.72207229
51MAPKAPK30.69254892
52PIK3CG0.69070192
53TIE10.68857470
54TEC0.67146866
55KIT0.66355768
56MAP3K40.65755343
57BMPR20.65090955
58ITK0.62904127
59MAPK150.62724147
60PRKCQ0.62531118
61TLK10.60148766
62IKBKB0.57309167
63PDK10.55138426
64STK380.53870397
65MAPK110.52044208
66ERBB20.50901057
67STK30.50013791
68PRKG10.46755171
69MAPK130.46715492
70PRKACA0.46416998
71MYLK0.46371322
72CHUK0.44164275
73GRK70.43793464
74MAP2K10.43523052
75CAMK2D0.42057399
76SGK30.41405401
77PRKACG0.41079566
78PRKD20.40904091
79PRKCH0.40737617
80IKBKE0.40559060
81PDPK10.40482529
82MAP3K70.40406253
83PRKCA0.40182197
84SGK4940.39110139
85SGK2230.39110139
86PRKCZ0.38650725
87CASK0.37899822
88SYK0.36370664
89CSNK1A10.35772084
90CAMK2A0.35586464
91IGF1R0.34678081
92TAOK10.34371308
93OBSCN0.34347415
94GSK3A0.34162186
95CAMKK10.33909040
96CSNK1G10.32952298
97LCK0.31096438
98CDC42BPA0.28921665
99PLK20.28635451
100CSNK1D0.28579616

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049503.75524549
2Caffeine metabolism_Homo sapiens_hsa002323.46866029
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.11779862
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.88025531
5Butanoate metabolism_Homo sapiens_hsa006502.84839894
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.82608755
7Retinol metabolism_Homo sapiens_hsa008302.69121405
8Complement and coagulation cascades_Homo sapiens_hsa046102.43852758
9Chemical carcinogenesis_Homo sapiens_hsa052042.42296420
10Tryptophan metabolism_Homo sapiens_hsa003802.38777597
11Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.30041226
12Linoleic acid metabolism_Homo sapiens_hsa005912.25824966
13Fatty acid degradation_Homo sapiens_hsa000712.12983221
14Steroid hormone biosynthesis_Homo sapiens_hsa001402.11550975
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.06725392
16Histidine metabolism_Homo sapiens_hsa003402.00503458
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.84555462
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79388742
19Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.77841008
20ABC transporters_Homo sapiens_hsa020101.71096697
21Vitamin B6 metabolism_Homo sapiens_hsa007501.66109057
22Arginine biosynthesis_Homo sapiens_hsa002201.61562782
23Drug metabolism - other enzymes_Homo sapiens_hsa009831.59677634
24Bile secretion_Homo sapiens_hsa049761.55299673
25beta-Alanine metabolism_Homo sapiens_hsa004101.46642755
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.44957899
27Peroxisome_Homo sapiens_hsa041461.44419607
28Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.37946055
29alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.36976413
30Arachidonic acid metabolism_Homo sapiens_hsa005901.31515879
31Tyrosine metabolism_Homo sapiens_hsa003501.28365052
32Insulin secretion_Homo sapiens_hsa049111.27816726
33Starch and sucrose metabolism_Homo sapiens_hsa005001.23555770
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.17039616
35Fat digestion and absorption_Homo sapiens_hsa049751.13542016
36Phenylalanine metabolism_Homo sapiens_hsa003601.13453362
37PPAR signaling pathway_Homo sapiens_hsa033201.11358753
38Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.06110426
39Selenocompound metabolism_Homo sapiens_hsa004501.03783629
40Propanoate metabolism_Homo sapiens_hsa006401.03629978
41Ether lipid metabolism_Homo sapiens_hsa005651.03416749
42Mineral absorption_Homo sapiens_hsa049781.02560511
43Sulfur metabolism_Homo sapiens_hsa009200.99580463
44Nitrogen metabolism_Homo sapiens_hsa009100.98613729
45Type I diabetes mellitus_Homo sapiens_hsa049400.98007645
46Fatty acid metabolism_Homo sapiens_hsa012120.95030701
47Staphylococcus aureus infection_Homo sapiens_hsa051500.94800394
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.91777517
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.88476798
50Circadian rhythm_Homo sapiens_hsa047100.82009730
51Sphingolipid metabolism_Homo sapiens_hsa006000.79592296
52Phototransduction_Homo sapiens_hsa047440.79568076
53Cyanoamino acid metabolism_Homo sapiens_hsa004600.78168279
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77010045
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.77000402
56Glycerolipid metabolism_Homo sapiens_hsa005610.75277113
57Vitamin digestion and absorption_Homo sapiens_hsa049770.75143539
58Collecting duct acid secretion_Homo sapiens_hsa049660.72980772
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72376419
60Glycosaminoglycan degradation_Homo sapiens_hsa005310.71888378
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.71784954
62Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70919984
63Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65809017
64Insulin resistance_Homo sapiens_hsa049310.63569678
65Serotonergic synapse_Homo sapiens_hsa047260.62578128
66Type II diabetes mellitus_Homo sapiens_hsa049300.61380882
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.60531801
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60501378
69Arginine and proline metabolism_Homo sapiens_hsa003300.58929335
70Ovarian steroidogenesis_Homo sapiens_hsa049130.56747448
71Renin secretion_Homo sapiens_hsa049240.51740504
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50335784
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47569568
74Other glycan degradation_Homo sapiens_hsa005110.47087934
75Glucagon signaling pathway_Homo sapiens_hsa049220.46076286
76Pancreatic secretion_Homo sapiens_hsa049720.45902589
77Renin-angiotensin system_Homo sapiens_hsa046140.44597024
78Regulation of autophagy_Homo sapiens_hsa041400.41420948
79Metabolic pathways_Homo sapiens_hsa011000.40996700
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.37771724
81Lysosome_Homo sapiens_hsa041420.37514367
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.36557387
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.35869706
84Fatty acid elongation_Homo sapiens_hsa000620.35175811
85Protein export_Homo sapiens_hsa030600.35068624
86Lysine degradation_Homo sapiens_hsa003100.34076452
87Salivary secretion_Homo sapiens_hsa049700.33430627
88Dorso-ventral axis formation_Homo sapiens_hsa043200.32189550
89Glycerophospholipid metabolism_Homo sapiens_hsa005640.32092191
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29605657
91Thyroid hormone synthesis_Homo sapiens_hsa049180.29191973
92One carbon pool by folate_Homo sapiens_hsa006700.25263132
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.24917674
94Protein digestion and absorption_Homo sapiens_hsa049740.23497519
95Amphetamine addiction_Homo sapiens_hsa050310.22027782
96Circadian entrainment_Homo sapiens_hsa047130.21806095
97GABAergic synapse_Homo sapiens_hsa047270.20136772
98Taste transduction_Homo sapiens_hsa047420.19020077
99Adipocytokine signaling pathway_Homo sapiens_hsa049200.18935674
100Cocaine addiction_Homo sapiens_hsa050300.13822925

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