CYP3A5

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. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)7.31782364
2* drug catabolic process (GO:0042737)7.12497153
3epoxygenase P450 pathway (GO:0019373)6.73215737
4cellular glucuronidation (GO:0052695)5.54677685
5omega-hydroxylase P450 pathway (GO:0097267)5.53504608
6uronic acid metabolic process (GO:0006063)5.32323075
7glucuronate metabolic process (GO:0019585)5.32323075
8flavonoid metabolic process (GO:0009812)5.27490460
9glyoxylate metabolic process (GO:0046487)5.19923583
10regulation of protein activation cascade (GO:2000257)5.14691738
11* drug metabolic process (GO:0017144)5.14591667
12complement activation, alternative pathway (GO:0006957)5.10171607
13regulation of triglyceride catabolic process (GO:0010896)5.07940576
14tryptophan catabolic process (GO:0006569)5.05975129
15indole-containing compound catabolic process (GO:0042436)5.05975129
16indolalkylamine catabolic process (GO:0046218)5.05975129
17aromatic amino acid family catabolic process (GO:0009074)4.92814276
18regulation of complement activation (GO:0030449)4.86969049
19erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.78008315
20L-phenylalanine catabolic process (GO:0006559)4.78008315
21* oxidative demethylation (GO:0070989)4.77459078
22bile acid metabolic process (GO:0008206)4.71588724
23bile acid biosynthetic process (GO:0006699)4.66782205
24bile acid and bile salt transport (GO:0015721)4.55036736
25regulation of fibrinolysis (GO:0051917)4.51246457
26phenylpropanoid metabolic process (GO:0009698)4.49780051
27urea metabolic process (GO:0019627)4.27383568
28negative regulation of fibrinolysis (GO:0051918)4.17501616
29tryptophan metabolic process (GO:0006568)4.11953824
30erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.04632979
31L-phenylalanine metabolic process (GO:0006558)4.04632979
32cellular ketone body metabolic process (GO:0046950)4.02945268
33arginine metabolic process (GO:0006525)3.98937274
34indolalkylamine metabolic process (GO:0006586)3.98732249
35triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.98333663
36ethanol oxidation (GO:0006069)3.96435194
37serine family amino acid catabolic process (GO:0009071)3.95533154
38kynurenine metabolic process (GO:0070189)3.83289647
39negative regulation of protein activation cascade (GO:2000258)3.80753554
40nitrogen cycle metabolic process (GO:0071941)3.76542210
41high-density lipoprotein particle remodeling (GO:0034375)3.70448321
42acylglycerol homeostasis (GO:0055090)3.65919136
43triglyceride homeostasis (GO:0070328)3.65919136
44S-adenosylmethionine metabolic process (GO:0046500)3.63815510
45blood coagulation, intrinsic pathway (GO:0007597)3.60581337
46negative regulation of sterol transport (GO:0032372)3.60304199
47negative regulation of cholesterol transport (GO:0032375)3.60304199
48urea cycle (GO:0000050)3.55182072
49protein carboxylation (GO:0018214)3.54940042
50peptidyl-glutamic acid carboxylation (GO:0017187)3.54940042
51ketone body metabolic process (GO:1902224)3.54252558
52heme transport (GO:0015886)3.53124730
53aromatic amino acid family metabolic process (GO:0009072)3.50797027
54drug transmembrane transport (GO:0006855)3.45624078
55plasma lipoprotein particle remodeling (GO:0034369)3.45457754
56protein-lipid complex remodeling (GO:0034368)3.45457754
57macromolecular complex remodeling (GO:0034367)3.45457754
58protein activation cascade (GO:0072376)3.44396386
59fibrinolysis (GO:0042730)3.43289695
60amine catabolic process (GO:0009310)3.42733489
61cellular biogenic amine catabolic process (GO:0042402)3.42733489
62arginine catabolic process (GO:0006527)3.41624072
63sulfation (GO:0051923)3.38700775
64reverse cholesterol transport (GO:0043691)3.38697239
65intestinal cholesterol absorption (GO:0030299)3.38631819
66negative regulation of complement activation (GO:0045916)3.38243244
67phospholipid efflux (GO:0033700)3.37680251
68* alkaloid metabolic process (GO:0009820)3.33522507
69intestinal absorption (GO:0050892)3.28761790
70complement activation, classical pathway (GO:0006958)3.27467021
71behavioral response to nicotine (GO:0035095)3.27436646
72regulation of bile acid biosynthetic process (GO:0070857)3.27090535
73hormone catabolic process (GO:0042447)3.22707540
74complement activation (GO:0006956)3.21816838
75benzene-containing compound metabolic process (GO:0042537)3.18131223
76ethanol metabolic process (GO:0006067)3.13471728
77negative regulation of blood coagulation (GO:0030195)3.10569819
78negative regulation of hemostasis (GO:1900047)3.10569819
79amino-acid betaine metabolic process (GO:0006577)3.08707370
80* xenobiotic metabolic process (GO:0006805)3.05428933
81drug transport (GO:0015893)3.04553488
82cholesterol efflux (GO:0033344)3.03722419
83fat-soluble vitamin biosynthetic process (GO:0042362)3.03109086
84regulation of humoral immune response (GO:0002920)2.96404396
85positive regulation of lipid catabolic process (GO:0050996)2.92999644
86alpha-amino acid catabolic process (GO:1901606)2.92088024
87negative regulation of coagulation (GO:0050819)2.91194785
88xenobiotic catabolic process (GO:0042178)2.90304544
89acute-phase response (GO:0006953)2.90038230
90phospholipid homeostasis (GO:0055091)2.89839811
91tyrosine metabolic process (GO:0006570)2.88233245
92indole-containing compound metabolic process (GO:0042430)2.84582468
93regulation of cholesterol esterification (GO:0010872)2.84306965
94opsonization (GO:0008228)2.83619323
95coenzyme catabolic process (GO:0009109)2.83275605
96negative regulation of wound healing (GO:0061045)2.81733590
97iron coordination entity transport (GO:1901678)2.77892791
98imidazole-containing compound metabolic process (GO:0052803)2.77730465
99sodium-independent organic anion transport (GO:0043252)2.73961621
100glycine metabolic process (GO:0006544)2.72286652

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse3.37761701
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.11160079
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.79783954
4GBX2_23144817_ChIP-Seq_PC3_Human2.66719665
5VDR_22108803_ChIP-Seq_LS180_Human2.38549772
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.23177603
7LXR_22158963_ChIP-Seq_LIVER_Mouse2.21639229
8RXR_22158963_ChIP-Seq_LIVER_Mouse2.16934381
9EZH2_22144423_ChIP-Seq_EOC_Human2.00377386
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.98566056
11ZFP57_27257070_Chip-Seq_ESCs_Mouse1.95989222
12ZNF274_21170338_ChIP-Seq_K562_Hela1.92106868
13AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.89932045
14IGF1R_20145208_ChIP-Seq_DFB_Human1.86034279
15PPARA_22158963_ChIP-Seq_LIVER_Mouse1.85496303
16POU3F2_20337985_ChIP-ChIP_501MEL_Human1.84199226
17PIAS1_25552417_ChIP-Seq_VCAP_Human1.75702071
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.74969908
19BCAT_22108803_ChIP-Seq_LS180_Human1.71354044
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.62804317
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61891637
22STAT3_23295773_ChIP-Seq_U87_Human1.58994983
23* ER_23166858_ChIP-Seq_MCF-7_Human1.58295724
24* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.57582462
25SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57247160
26FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.54547661
27P300_19829295_ChIP-Seq_ESCs_Human1.47447344
28TAF15_26573619_Chip-Seq_HEK293_Human1.45947251
29NR3C1_21868756_ChIP-Seq_MCF10A_Human1.43133743
30TP53_16413492_ChIP-PET_HCT116_Human1.42136948
31DROSHA_22980978_ChIP-Seq_HELA_Human1.41609994
32PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41186129
33SMAD4_21799915_ChIP-Seq_A2780_Human1.41118632
34TCF4_23295773_ChIP-Seq_U87_Human1.39657503
35UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.39400303
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.38322394
37CBP_20019798_ChIP-Seq_JUKART_Human1.37515267
38IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.37515267
39FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.34256545
40ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.32869377
41TCF4_22108803_ChIP-Seq_LS180_Human1.30479914
42PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.29258181
43* FOXA2_19822575_ChIP-Seq_HepG2_Human1.27408303
44PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27229206
45IRF1_19129219_ChIP-ChIP_H3396_Human1.26088488
46FLI1_27457419_Chip-Seq_LIVER_Mouse1.24877969
47AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.24757343
48SUZ12_27294783_Chip-Seq_NPCs_Mouse1.24628704
49EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.24290316
50* AR_25329375_ChIP-Seq_VCAP_Human1.23947624
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23289497
52CDX2_20551321_ChIP-Seq_CACO-2_Human1.21984976
53TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21971126
54NFE2_27457419_Chip-Seq_LIVER_Mouse1.21656416
55ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.20374093
56CDX2_22108803_ChIP-Seq_LS180_Human1.20219502
57AHR_22903824_ChIP-Seq_MCF-7_Human1.20213217
58SMAD3_21741376_ChIP-Seq_EPCs_Human1.19666553
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.19446441
60GATA4_25053715_ChIP-Seq_YYC3_Human1.19199676
61CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.18827881
62KLF5_20875108_ChIP-Seq_MESCs_Mouse1.17663457
63POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17459733
64TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17459733
65FUS_26573619_Chip-Seq_HEK293_Human1.15463315
66* HNF4A_19822575_ChIP-Seq_HepG2_Human1.15282480
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.14911821
68REST_21632747_ChIP-Seq_MESCs_Mouse1.13606008
69PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12758277
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12505846
71ETV2_25802403_ChIP-Seq_MESCs_Mouse1.10251265
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.10001796
73RXR_22108803_ChIP-Seq_LS180_Human1.08802398
74CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08266989
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.07807963
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.05780204
77FOXA1_21572438_ChIP-Seq_LNCaP_Human1.05518195
78RUNX2_22187159_ChIP-Seq_PCA_Human1.04347426
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03095856
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02621161
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02105391
82SMAD4_21741376_ChIP-Seq_EPCs_Human1.02102313
83PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.01266075
84EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00547512
85* SOX2_19829295_ChIP-Seq_ESCs_Human1.00193374
86* NANOG_19829295_ChIP-Seq_ESCs_Human1.00193374
87IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.98417342
88EWS_26573619_Chip-Seq_HEK293_Human0.98347559
89NCOR_22424771_ChIP-Seq_293T_Human0.98178108
90FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.98006264
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97113336
92CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.96105107
93FOXA1_25329375_ChIP-Seq_VCAP_Human0.96096884
94FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96096884
95CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.94983102
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94736764
97NANOG_18555785_Chip-Seq_ESCs_Mouse0.94706142
98P53_22387025_ChIP-Seq_ESCs_Mouse0.94088393
99KDM2B_26808549_Chip-Seq_REH_Human0.92908805
100TP53_18474530_ChIP-ChIP_U2OS_Human0.92472686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.81314371
2MP0005360_urolithiasis5.79561378
3MP0005085_abnormal_gallbladder_physiolo5.47481766
4MP0002138_abnormal_hepatobiliary_system4.99613844
5MP0003195_calcinosis4.92969390
6MP0005365_abnormal_bile_salt4.88653198
7MP0003252_abnormal_bile_duct3.85767232
8MP0008875_abnormal_xenobiotic_pharmacok3.80062784
9MP0001666_abnormal_nutrient_absorption3.39374179
10MP0002876_abnormal_thyroid_physiology2.84032432
11MP0010329_abnormal_lipoprotein_level2.64393062
12MP0003868_abnormal_feces_composition2.58219661
13MP0005332_abnormal_amino_acid2.18537126
14MP0004019_abnormal_vitamin_homeostasis2.05173505
15MP0004043_abnormal_pH_regulation1.84477283
16MP0010386_abnormal_urinary_bladder1.69194475
17MP0005670_abnormal_white_adipose1.65969882
18MP0008872_abnormal_physiological_respon1.65862256
19MP0001764_abnormal_homeostasis1.52014894
20MP0002118_abnormal_lipid_homeostasis1.50514275
21MP0003879_abnormal_hair_cell1.48492919
22MP0001501_abnormal_sleep_pattern1.47003096
23MP0009840_abnormal_foam_cell1.40372985
24MP0005551_abnormal_eye_electrophysiolog1.39231839
25MP0009697_abnormal_copulation1.32993234
26MP0003646_muscle_fatigue1.28265501
27MP0001485_abnormal_pinna_reflex1.17549506
28MP0000569_abnormal_digit_pigmentation1.13777958
29MP0002928_abnormal_bile_duct1.12034190
30MP0009643_abnormal_urine_homeostasis1.11733967
31MP0000609_abnormal_liver_physiology1.11474275
32MP0001664_abnormal_digestion1.03350453
33MP0005448_abnormal_energy_balance1.03255979
34MP0005646_abnormal_pituitary_gland0.99473270
35MP0004142_abnormal_muscle_tone0.98017549
36MP0000538_abnormal_urinary_bladder0.95576905
37MP0003183_abnormal_peptide_metabolism0.94203245
38MP0001986_abnormal_taste_sensitivity0.92510915
39MP0004145_abnormal_muscle_electrophysio0.92292091
40MP0000230_abnormal_systemic_arterial0.91788877
41MP0005645_abnormal_hypothalamus_physiol0.89242778
42MP0004130_abnormal_muscle_cell0.88790263
43MP0005636_abnormal_mineral_homeostasis0.86688120
44MP0000427_abnormal_hair_cycle0.86643167
45MP0001756_abnormal_urination0.86131238
46MP0005395_other_phenotype0.85128488
47MP0002163_abnormal_gland_morphology0.80516833
48MP0006276_abnormal_autonomic_nervous0.80350412
49MP0003718_maternal_effect0.80316589
50MP0004147_increased_porphyrin_level0.79172824
51MP0003011_delayed_dark_adaptation0.77403305
52MP0003045_fibrosis0.76169828
53MP0001440_abnormal_grooming_behavior0.75563954
54MP0009745_abnormal_behavioral_response0.75540993
55MP0002272_abnormal_nervous_system0.75537026
56MP0009764_decreased_sensitivity_to0.75517755
57MP0002168_other_aberrant_phenotype0.75276320
58MP0005220_abnormal_exocrine_pancreas0.73860465
59MP0009642_abnormal_blood_homeostasis0.72882909
60MP0002078_abnormal_glucose_homeostasis0.72774936
61MP0002971_abnormal_brown_adipose0.71465923
62MP0005083_abnormal_biliary_tract0.71133093
63MP0003638_abnormal_response/metabolism_0.70889898
64MP0006292_abnormal_olfactory_placode0.70864670
65MP0001968_abnormal_touch/_nociception0.69635434
66MP0003953_abnormal_hormone_level0.69297233
67MP0005535_abnormal_body_temperature0.69116045
68MP0004924_abnormal_behavior0.68424196
69MP0005386_behavior/neurological_phenoty0.68424196
70MP0002136_abnormal_kidney_physiology0.68402747
71MP0005174_abnormal_tail_pigmentation0.68158019
72MP0005379_endocrine/exocrine_gland_phen0.67880551
73MP0001765_abnormal_ion_homeostasis0.67230014
74MP0002132_abnormal_respiratory_system0.66469182
75MP0005319_abnormal_enzyme/_coenzyme0.64948019
76MP0003806_abnormal_nucleotide_metabolis0.64477112
77MP0005084_abnormal_gallbladder_morpholo0.64234718
78MP0002557_abnormal_social/conspecific_i0.63232408
79MP0002733_abnormal_thermal_nociception0.60708641
80MP0005187_abnormal_penis_morphology0.60331070
81MP0009115_abnormal_fat_cell0.59293982
82MP0005376_homeostasis/metabolism_phenot0.59116720
83MP0002064_seizures0.58410401
84MP0001486_abnormal_startle_reflex0.57271322
85MP0009046_muscle_twitch0.57187556
86MP0005266_abnormal_metabolism0.57067972
87MP0005409_darkened_coat_color0.56529112
88MP0005334_abnormal_fat_pad0.56429675
89MP0001970_abnormal_pain_threshold0.55792379
90MP0005408_hypopigmentation0.54538852
91MP0002909_abnormal_adrenal_gland0.53251465
92MP0004133_heterotaxia0.52735900
93MP0000383_abnormal_hair_follicle0.52536789
94MP0005584_abnormal_enzyme/coenzyme_acti0.52429630
95MP0002638_abnormal_pupillary_reflex0.50051694
96MP0002572_abnormal_emotion/affect_behav0.50006874
97MP0001502_abnormal_circadian_rhythm0.49970062
98MP0002653_abnormal_ependyma_morphology0.48970129
99MP0003136_yellow_coat_color0.48423809
100MP0004264_abnormal_extraembryonic_tissu0.48402446

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of monocarboxylic acid metabolism (HP:0010996)6.15201465
2Hypobetalipoproteinemia (HP:0003563)5.66650744
3Complement deficiency (HP:0004431)5.58374798
4Prolonged partial thromboplastin time (HP:0003645)5.33819299
5Abnormality of glutamine family amino acid metabolism (HP:0010902)4.87485421
6Deep venous thrombosis (HP:0002625)4.73328405
7Conjugated hyperbilirubinemia (HP:0002908)4.37548254
8Abnormality of complement system (HP:0005339)4.01282871
9Abnormality of aromatic amino acid family metabolism (HP:0004338)3.87386151
10Intrahepatic cholestasis (HP:0001406)3.66018110
11Hyperventilation (HP:0002883)3.63652903
12Hyperlipoproteinemia (HP:0010980)3.61954484
13Systemic lupus erythematosus (HP:0002725)3.55171588
14Abnormality of pyrimidine metabolism (HP:0004353)3.54707991
15Xanthomatosis (HP:0000991)3.33422475
16Fat malabsorption (HP:0002630)3.29981806
17Congenital sensorineural hearing impairment (HP:0008527)3.21151093
18Hydroxyprolinuria (HP:0003080)3.18981773
19Abnormality of proline metabolism (HP:0010907)3.18981773
20Hypolipoproteinemia (HP:0010981)3.09237191
21Glomerulonephritis (HP:0000099)3.09059665
22Joint hemorrhage (HP:0005261)3.09029186
23Pancreatic cysts (HP:0001737)3.07002907
24Spontaneous abortion (HP:0005268)3.04320843
25Decreased circulating renin level (HP:0003351)3.00444830
26Hyperglycinuria (HP:0003108)3.00345305
27Enlarged kidneys (HP:0000105)2.96939498
28Ileus (HP:0002595)2.92439488
29Fair hair (HP:0002286)2.91256441
30Abnormality of serine family amino acid metabolism (HP:0010894)2.88680906
31Abnormality of glycine metabolism (HP:0010895)2.88680906
32Abnormality of the renal cortex (HP:0011035)2.87126826
33Genetic anticipation (HP:0003743)2.86273588
34Facial shape deformation (HP:0011334)2.81694123
35Potter facies (HP:0002009)2.81694123
36Glycosuria (HP:0003076)2.74901348
37Abnormality of urine glucose concentration (HP:0011016)2.74901348
38Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.69568362
39Hyperglycinemia (HP:0002154)2.62185579
40Chronic hepatic failure (HP:0100626)2.59810959
41Progressive cerebellar ataxia (HP:0002073)2.59249172
42Osteomalacia (HP:0002749)2.56758573
43Epidermoid cyst (HP:0200040)2.51393778
44Confusion (HP:0001289)2.48862476
45Abnormality of vitamin metabolism (HP:0100508)2.48367770
46Generalized aminoaciduria (HP:0002909)2.43235569
47Nephritis (HP:0000123)2.42087336
48Abnormality of the nasal septum (HP:0000419)2.39214925
49Alkalosis (HP:0001948)2.38903893
50Steatorrhea (HP:0002570)2.38416046
51Congenital stationary night blindness (HP:0007642)2.34094773
52Abolished electroretinogram (ERG) (HP:0000550)2.32385596
53Gaze-evoked nystagmus (HP:0000640)2.29834951
54Ketosis (HP:0001946)2.29027569
55Attenuation of retinal blood vessels (HP:0007843)2.28922481
56Hyperammonemia (HP:0001987)2.26999012
57Abnormality of the common coagulation pathway (HP:0010990)2.24627978
58Abnormality of nucleobase metabolism (HP:0010932)2.24230295
59Pancreatic fibrosis (HP:0100732)2.23053872
60Metabolic acidosis (HP:0001942)2.19921654
61Delayed CNS myelination (HP:0002188)2.17338560
62Generalized hypopigmentation of hair (HP:0011358)2.17019536
63Abnormality of serum amino acid levels (HP:0003112)2.16321114
64Abnormality of aspartate family amino acid metabolism (HP:0010899)2.16024154
65Proximal tubulopathy (HP:0000114)2.15738037
66Clumsiness (HP:0002312)2.14775864
67True hermaphroditism (HP:0010459)2.12902666
68Abnormality of the renal medulla (HP:0100957)2.11325891
69Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.10959105
70Renal cortical cysts (HP:0000803)2.10668450
71Malnutrition (HP:0004395)2.09586469
72Abnormal biliary tract physiology (HP:0012439)2.08947434
73Bile duct proliferation (HP:0001408)2.08947434
74Vascular calcification (HP:0004934)2.08226376
75Molar tooth sign on MRI (HP:0002419)2.06735444
76Abnormality of midbrain morphology (HP:0002418)2.06735444
77Pigmentary retinal degeneration (HP:0001146)2.05654533
78Metabolic alkalosis (HP:0200114)2.04269535
79Cystic liver disease (HP:0006706)2.03644632
80Decreased central vision (HP:0007663)2.03338465
81Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.02804542
82Abnormality of alanine metabolism (HP:0010916)2.02804542
83Hyperalaninemia (HP:0003348)2.02804542
84Nephronophthisis (HP:0000090)1.99565319
85Abnormality of vitamin B metabolism (HP:0004340)1.98171674
86Rickets (HP:0002748)1.94867642
87Abnormality of sulfur amino acid metabolism (HP:0004339)1.93738587
88Abnormality of the intrinsic pathway (HP:0010989)1.91480585
89Aplasia/Hypoplasia of the tibia (HP:0005772)1.90731328
90Abnormality of the vitamin B12 metabolism (HP:0004341)1.90185359
91Bony spicule pigmentary retinopathy (HP:0007737)1.86952272
92Acanthocytosis (HP:0001927)1.85410683
93Hypothermia (HP:0002045)1.84591186
94Tubular atrophy (HP:0000092)1.84098577
95Abnormality of renin-angiotensin system (HP:0000847)1.84013779
96Cerebral palsy (HP:0100021)1.83316948
97Neonatal hypoglycemia (HP:0001998)1.83007316
98Protruding tongue (HP:0010808)1.82997540
99Arthropathy (HP:0003040)1.81374761
100Abnormal pancreas size (HP:0012094)1.80307141

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK8.06497053
2ACVR1B4.10384681
3LMTK23.40225095
4BMPR1B2.63348194
5AKT32.42646480
6TAOK32.38498098
7GRK12.33057377
8CASK2.19636590
9ADRBK22.16746491
10PIK3CA1.99706453
11STK391.92300819
12INSRR1.75103155
13MST1R1.66966045
14OXSR11.66637832
15WNK41.60758438
16MAP4K21.57088977
17WNK31.46927390
18NTRK31.45779577
19NUAK11.38661436
20PIK3CG1.38166856
21TNIK1.25830510
22MAPK131.25463802
23PINK11.17181078
24PRKAA21.12857546
25ADRBK11.08489434
26STK38L1.07014388
27DAPK21.05002974
28ERBB21.03718869
29CAMKK21.03632418
30PAK31.01934401
31SGK21.01527778
32MAP3K40.98626736
33NLK0.96606609
34EPHA30.93057762
35FGFR20.90004891
36PRKCG0.88990434
37PRKCE0.88347924
38PRKG20.88041078
39PRKAA10.85315709
40FER0.83190681
41MAP2K60.81745321
42MAP3K70.81052198
43SGK2230.80920624
44SGK4940.80920624
45BLK0.80154371
46TLK10.76496155
47STK30.76319733
48MET0.75032149
49CAMK1D0.73122976
50PRKACG0.72949648
51CAMK1G0.72879490
52EPHA40.70145805
53PDK20.67912557
54MAPK110.67763185
55STK380.66646026
56PRKD30.62855094
57PRKCZ0.62598418
58TEC0.62481115
59PRKACA0.61088725
60ZAK0.60964136
61PHKG20.60679829
62PHKG10.60679829
63TNK20.58741954
64PRKG10.55853703
65MKNK20.53845306
66SGK10.52382605
67CHUK0.51803372
68PRKCA0.51683602
69PRKCQ0.51469959
70CSNK1A10.50595812
71CAMK40.50338192
72EPHA20.49489900
73TXK0.48701363
74MARK10.48654404
75MAPKAPK30.47975609
76TRPM70.47533126
77STK110.46942867
78CAMK2A0.46939516
79CAMK10.46518804
80TIE10.46213635
81MUSK0.45127333
82OBSCN0.44777914
83IGF1R0.43562524
84MAPK150.43132264
85IKBKB0.42328554
86SGK30.39376581
87ERN10.38184925
88NTRK20.38145779
89RPS6KA60.38018084
90CSNK1D0.36989135
91RPS6KA30.36806629
92PTK2B0.36755438
93TGFBR10.35624487
94IRAK10.35168891
95MAP2K20.33973510
96LATS10.33890788
97FGFR30.33783770
98MYLK0.33515014
99KIT0.33122252
100PRKCH0.32866714

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.57455056
2Caffeine metabolism_Homo sapiens_hsa002323.53406166
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.53129200
4* Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.22505557
5* Retinol metabolism_Homo sapiens_hsa008303.13943717
6* Chemical carcinogenesis_Homo sapiens_hsa052042.82044258
7Complement and coagulation cascades_Homo sapiens_hsa046102.78227295
8* Steroid hormone biosynthesis_Homo sapiens_hsa001402.72633444
9Linoleic acid metabolism_Homo sapiens_hsa005912.71867367
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.65834354
11* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.57325760
12Butanoate metabolism_Homo sapiens_hsa006502.31040919
13Tryptophan metabolism_Homo sapiens_hsa003802.26616526
14Histidine metabolism_Homo sapiens_hsa003402.25058256
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.10183436
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.09210078
17Bile secretion_Homo sapiens_hsa049762.03643562
18Arginine biosynthesis_Homo sapiens_hsa002202.02784138
19Cyanoamino acid metabolism_Homo sapiens_hsa004602.02759850
20Fat digestion and absorption_Homo sapiens_hsa049751.99398578
21Fatty acid degradation_Homo sapiens_hsa000711.93855457
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.80923127
23Maturity onset diabetes of the young_Homo sapiens_hsa049501.77782996
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.76201337
25Phenylalanine metabolism_Homo sapiens_hsa003601.66772579
26Starch and sucrose metabolism_Homo sapiens_hsa005001.65526797
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.60996173
28ABC transporters_Homo sapiens_hsa020101.58436099
29Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.54019869
30Arachidonic acid metabolism_Homo sapiens_hsa005901.48059380
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.46227608
32Tyrosine metabolism_Homo sapiens_hsa003501.45465530
33Vitamin digestion and absorption_Homo sapiens_hsa049771.43875132
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.38542179
35PPAR signaling pathway_Homo sapiens_hsa033201.36788363
36Peroxisome_Homo sapiens_hsa041461.34606483
37beta-Alanine metabolism_Homo sapiens_hsa004101.25922478
38Sulfur metabolism_Homo sapiens_hsa009201.18101229
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.16940767
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.16456363
41Glycerolipid metabolism_Homo sapiens_hsa005611.09420147
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96991688
43Staphylococcus aureus infection_Homo sapiens_hsa051500.94734302
44Nitrogen metabolism_Homo sapiens_hsa009100.92390633
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90684674
46Propanoate metabolism_Homo sapiens_hsa006400.88707598
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.87254043
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.85879168
49Renin-angiotensin system_Homo sapiens_hsa046140.83811720
50Arginine and proline metabolism_Homo sapiens_hsa003300.83379179
51Ether lipid metabolism_Homo sapiens_hsa005650.82530239
52Mineral absorption_Homo sapiens_hsa049780.79112300
53Cysteine and methionine metabolism_Homo sapiens_hsa002700.73630992
54Sulfur relay system_Homo sapiens_hsa041220.68957221
55Fatty acid metabolism_Homo sapiens_hsa012120.65445510
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.65074823
57Lysine degradation_Homo sapiens_hsa003100.63919178
58Serotonergic synapse_Homo sapiens_hsa047260.58151257
59Carbohydrate digestion and absorption_Homo sapiens_hsa049730.55835887
60Protein digestion and absorption_Homo sapiens_hsa049740.55509496
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55201350
62Phototransduction_Homo sapiens_hsa047440.52656422
63Nicotine addiction_Homo sapiens_hsa050330.51588577
64Vitamin B6 metabolism_Homo sapiens_hsa007500.51390312
65Pancreatic secretion_Homo sapiens_hsa049720.50412734
66Selenocompound metabolism_Homo sapiens_hsa004500.50202919
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46371028
68Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46275372
69* Metabolic pathways_Homo sapiens_hsa011000.42533790
70Insulin secretion_Homo sapiens_hsa049110.41397716
71Ovarian steroidogenesis_Homo sapiens_hsa049130.40599868
72Glycerophospholipid metabolism_Homo sapiens_hsa005640.37778015
73Pyruvate metabolism_Homo sapiens_hsa006200.36607256
74Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.35208072
75Taste transduction_Homo sapiens_hsa047420.32620199
76Vascular smooth muscle contraction_Homo sapiens_hsa042700.32538524
77Fatty acid biosynthesis_Homo sapiens_hsa000610.27952479
78Insulin resistance_Homo sapiens_hsa049310.25994995
79Sphingolipid metabolism_Homo sapiens_hsa006000.25732343
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.23161452
81Glutamatergic synapse_Homo sapiens_hsa047240.22956509
82Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.18621229
83Intestinal immune network for IgA production_Homo sapiens_hsa046720.18285118
84Dorso-ventral axis formation_Homo sapiens_hsa043200.17098217
85Circadian rhythm_Homo sapiens_hsa047100.16694851
86Renin secretion_Homo sapiens_hsa049240.15823256
87Circadian entrainment_Homo sapiens_hsa047130.15470486
88Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.13988859
89GABAergic synapse_Homo sapiens_hsa047270.13864787
90One carbon pool by folate_Homo sapiens_hsa006700.13498388
91Glucagon signaling pathway_Homo sapiens_hsa049220.12850867
92Morphine addiction_Homo sapiens_hsa050320.11097008
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.10943537
94Olfactory transduction_Homo sapiens_hsa047400.10306724
95Cocaine addiction_Homo sapiens_hsa050300.09791168
96Salivary secretion_Homo sapiens_hsa049700.09415504
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.07428954
98Glutathione metabolism_Homo sapiens_hsa004800.07090158
99Fructose and mannose metabolism_Homo sapiens_hsa000510.05823670
100Type II diabetes mellitus_Homo sapiens_hsa049300.05271851

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