HPD

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: The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two 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
1exogenous drug catabolic process (GO:0042738)8.28238620
2epoxygenase P450 pathway (GO:0019373)7.66765319
3* erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.41149628
4* L-phenylalanine catabolic process (GO:0006559)7.41149628
5omega-hydroxylase P450 pathway (GO:0097267)7.40275756
6* L-phenylalanine metabolic process (GO:0006558)7.07148860
7* erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.07148860
8* aromatic amino acid family catabolic process (GO:0009074)6.74345920
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.38516942
10tryptophan catabolic process (GO:0006569)6.21294336
11indole-containing compound catabolic process (GO:0042436)6.21294336
12indolalkylamine catabolic process (GO:0046218)6.21294336
13kynurenine metabolic process (GO:0070189)6.06650705
14bile acid biosynthetic process (GO:0006699)5.94207038
15tryptophan metabolic process (GO:0006568)5.85268025
16glyoxylate metabolic process (GO:0046487)5.83865774
17urea cycle (GO:0000050)5.79085903
18urea metabolic process (GO:0019627)5.79085903
19regulation of plasminogen activation (GO:0010755)5.68168161
20high-density lipoprotein particle remodeling (GO:0034375)5.61753725
21alpha-linolenic acid metabolic process (GO:0036109)5.60771478
22drug metabolic process (GO:0017144)5.58000139
23negative regulation of fibrinolysis (GO:0051918)5.57702541
24cysteine metabolic process (GO:0006534)5.46240668
25sulfur amino acid catabolic process (GO:0000098)5.43101316
26regulation of fibrinolysis (GO:0051917)5.36194767
27oxidative demethylation (GO:0070989)5.35014361
28peptidyl-glutamic acid carboxylation (GO:0017187)5.33295951
29protein carboxylation (GO:0018214)5.33295951
30nitrogen cycle metabolic process (GO:0071941)5.32794766
31serine family amino acid catabolic process (GO:0009071)5.25153031
32ethanol metabolic process (GO:0006067)5.19741982
33complement activation, alternative pathway (GO:0006957)5.16509901
34regulation of protein activation cascade (GO:2000257)5.15826353
35bile acid metabolic process (GO:0008206)5.09618430
36regulation of cholesterol esterification (GO:0010872)4.93734041
37homocysteine metabolic process (GO:0050667)4.90709564
38fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.88675667
39reverse cholesterol transport (GO:0043691)4.87907989
40negative regulation of protein activation cascade (GO:2000258)4.85931269
41* aromatic amino acid family metabolic process (GO:0009072)4.84358064
42regulation of triglyceride catabolic process (GO:0010896)4.82776342
43plasma lipoprotein particle remodeling (GO:0034369)4.80164439
44protein-lipid complex remodeling (GO:0034368)4.80164439
45macromolecular complex remodeling (GO:0034367)4.80164439
46regulation of complement activation (GO:0030449)4.79609920
47negative regulation of hemostasis (GO:1900047)4.77225490
48negative regulation of blood coagulation (GO:0030195)4.77225490
49phenylpropanoid metabolic process (GO:0009698)4.77123672
50amino-acid betaine metabolic process (GO:0006577)4.70456935
51lysine metabolic process (GO:0006553)4.70066807
52lysine catabolic process (GO:0006554)4.70066807
53acute-phase response (GO:0006953)4.69265273
54* alpha-amino acid catabolic process (GO:1901606)4.67242837
55negative regulation of sterol transport (GO:0032372)4.63782709
56negative regulation of cholesterol transport (GO:0032375)4.63782709
57acylglycerol homeostasis (GO:0055090)4.61031016
58triglyceride homeostasis (GO:0070328)4.61031016
59phospholipid efflux (GO:0033700)4.60652081
60S-adenosylmethionine metabolic process (GO:0046500)4.59246269
61intestinal cholesterol absorption (GO:0030299)4.59078425
62cellular ketone body metabolic process (GO:0046950)4.52907384
63regulation of humoral immune response (GO:0002920)4.49111749
64glycine metabolic process (GO:0006544)4.45570579
65plasma lipoprotein particle clearance (GO:0034381)4.40784845
66indolalkylamine metabolic process (GO:0006586)4.40623692
67imidazole-containing compound metabolic process (GO:0052803)4.39594566
68coenzyme catabolic process (GO:0009109)4.38080049
69bile acid and bile salt transport (GO:0015721)4.37443066
70negative regulation of coagulation (GO:0050819)4.34619593
71glutamate metabolic process (GO:0006536)4.32076426
72cellular biogenic amine catabolic process (GO:0042402)4.31342037
73amine catabolic process (GO:0009310)4.31342037
74* cellular amino acid catabolic process (GO:0009063)4.30410528
75cellular glucuronidation (GO:0052695)4.26363305
76negative regulation of wound healing (GO:0061045)4.26048003
77* tyrosine metabolic process (GO:0006570)4.25373238
78serine family amino acid metabolic process (GO:0009069)4.25018986
79cholesterol efflux (GO:0033344)4.22707381
80positive regulation of hemostasis (GO:1900048)4.19647671
81positive regulation of blood coagulation (GO:0030194)4.19647671
82negative regulation of complement activation (GO:0045916)4.18955488
83benzene-containing compound metabolic process (GO:0042537)4.15718745
84alkaloid metabolic process (GO:0009820)4.14356249
85cellular modified amino acid catabolic process (GO:0042219)4.13168312
86arginine metabolic process (GO:0006525)4.11663746
87serine family amino acid biosynthetic process (GO:0009070)4.09485702
88dicarboxylic acid biosynthetic process (GO:0043650)4.07899761
89ethanol oxidation (GO:0006069)4.07135077
90low-density lipoprotein particle remodeling (GO:0034374)4.06431981
91aldehyde catabolic process (GO:0046185)4.05948367
92drug catabolic process (GO:0042737)4.05526799
93plasma lipoprotein particle assembly (GO:0034377)4.01738437
94response to mercury ion (GO:0046689)3.99778568
95fibrinolysis (GO:0042730)3.96759250
96cytolysis (GO:0019835)3.92750265
97ketone body metabolic process (GO:1902224)3.92119156
98positive regulation of coagulation (GO:0050820)3.84537555
99opsonization (GO:0008228)3.81159677
100blood coagulation, intrinsic pathway (GO:0007597)3.80711822
101killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.79107336
102disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.79107336
103glucuronate metabolic process (GO:0019585)3.79003729
104uronic acid metabolic process (GO:0006063)3.79003729
105negative regulation of lipase activity (GO:0060192)3.78797618
106cofactor catabolic process (GO:0051187)3.78546342
107positive regulation of lipoprotein lipase activity (GO:0051006)3.77787795
108positive regulation of triglyceride lipase activity (GO:0061365)3.77787795
109* organic acid catabolic process (GO:0016054)3.77139176
110* carboxylic acid catabolic process (GO:0046395)3.77139176
111very-low-density lipoprotein particle assembly (GO:0034379)3.75631492
112positive regulation of lipid catabolic process (GO:0050996)3.75266059
113regulation of bile acid biosynthetic process (GO:0070857)3.73955268
114short-chain fatty acid metabolic process (GO:0046459)3.73876576
115cholesterol homeostasis (GO:0042632)3.73785196
116phospholipid homeostasis (GO:0055091)3.72592223
117acetyl-CoA metabolic process (GO:0006084)3.69458899
118sterol homeostasis (GO:0055092)3.67785729
119complement activation, classical pathway (GO:0006958)3.64042347
120regulation of cholesterol homeostasis (GO:2000188)3.63794175
121plasma lipoprotein particle organization (GO:0071827)3.63588842
122protein activation cascade (GO:0072376)3.63150813
123complement activation (GO:0006956)3.62116884
124protein-lipid complex assembly (GO:0065005)3.60279825
125positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.59365403
126regulation of apoptotic cell clearance (GO:2000425)3.58765715
127NAD biosynthetic process (GO:0009435)3.58338809
128acute inflammatory response (GO:0002526)3.55932513
129flavonoid metabolic process (GO:0009812)3.54820703
130nicotinamide nucleotide biosynthetic process (GO:0019359)3.54709957
131positive regulation of fatty acid biosynthetic process (GO:0045723)3.54507785
132hormone catabolic process (GO:0042447)3.54405940
133protein-lipid complex subunit organization (GO:0071825)3.52663347
134doxorubicin metabolic process (GO:0044598)3.51831497
135daunorubicin metabolic process (GO:0044597)3.51831497

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.41982649
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.19118537
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.98144412
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.50253531
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.32091491
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.11644391
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.87445313
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.02584152
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.00381617
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.09465695
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0011247
12TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.98800404
13* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94669738
14* FOXA2_19822575_ChIP-Seq_HepG2_Human1.58756537
15CLOCK_20551151_ChIP-Seq_293T_Human1.54906487
16HTT_18923047_ChIP-ChIP_STHdh_Human1.54508804
17* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40422715
18GATA1_22025678_ChIP-Seq_K562_Human1.38252890
19TRIM28_21343339_ChIP-Seq_HEK293_Human1.36371187
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.27377441
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.20321063
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.19048203
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17852719
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15974300
25ESR1_15608294_ChIP-ChIP_MCF-7_Human1.04801195
26IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01696817
27ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01617078
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97030937
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.94597455
30SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91525108
31SMC4_20622854_ChIP-Seq_HELA_Human0.86472914
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85978377
33RARG_19884340_ChIP-ChIP_MEFs_Mouse0.84135312
34AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83816647
35ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.82199955
36ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.82195749
37IRF8_22096565_ChIP-ChIP_GC-B_Human0.81651956
38* GATA4_25053715_ChIP-Seq_YYC3_Human0.78082693
39KAP1_22055183_ChIP-Seq_ESCs_Mouse0.77358984
40SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76920879
41CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.76568552
42BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76440216
43RAC3_21632823_ChIP-Seq_H3396_Human0.74884854
44SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74128913
45SOX2_21211035_ChIP-Seq_LN229_Human0.73807318
46SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.73429500
47RARA_24833708_ChIP-Seq_LIVER_Mouse0.73291981
48ZNF263_19887448_ChIP-Seq_K562_Human0.72223352
49TCF4_18268006_ChIP-ChIP_LS174T_Human0.71397003
50Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.71173948
51CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70031217
52SRY_22984422_ChIP-ChIP_TESTIS_Rat0.67660744
53AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.66866587
54ESR2_21235772_ChIP-Seq_MCF-7_Human0.66437983
55SALL4_18804426_ChIP-ChIP_XEN_Mouse0.65625877
56PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.64792289
57NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.64654505
58RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.63491564
59CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.63486425
60NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63335943
61NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63335943
62RARB_24833708_ChIP-Seq_LIVER_Mouse0.62945499
63NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.62778445
64NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.62434204
65DNAJC2_21179169_ChIP-ChIP_NT2_Human0.62190695
66E2F1_20622854_ChIP-Seq_HELA_Human0.60865776
67FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.60670304
68* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.59542981
69CTCF_27219007_Chip-Seq_Bcells_Human0.59459896
70SPI1_20517297_ChIP-Seq_HL60_Human0.58110890
71CEBPB_22108803_ChIP-Seq_LS180_Human0.57412568
72SA1_27219007_Chip-Seq_Bcells_Human0.56907888
73* ELF1_20517297_ChIP-Seq_JURKAT_Human0.56894452
74HNFA_21074721_ChIP-Seq_CACO-2_Human0.55787314
75CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.55475273
76CSB_26484114_Chip-Seq_FIBROBLAST_Human0.55402468
77EGR1_19032775_ChIP-ChIP_M12_Human0.55304521
78LXR_22292898_ChIP-Seq_THP-1_Human0.55217329
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.55143116
80* BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.55075318
81NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.54177930
82TET1_21451524_ChIP-Seq_MESCs_Mouse0.53840851
83* POU5F1_16518401_ChIP-PET_MESCs_Mouse0.53567631
84P68_20966046_ChIP-Seq_HELA_Human0.53130451
85PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.52912890
86FOXA1_25552417_ChIP-Seq_VCAP_Human0.52610119
87MYC_19915707_ChIP-ChIP_AK7_Human0.51617019
88STAT3_1855785_ChIP-Seq_MESCs_Mouse0.51251007
89FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51179641
90JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.50725750
91SOX2_20726797_ChIP-Seq_SW620_Human0.50541322
92ESET_19884257_ChIP-Seq_ESCs_Mouse0.49152677
93FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.49097535
94* AR_20517297_ChIP-Seq_VCAP_Human0.48828753
95CBP_21632823_ChIP-Seq_H3396_Human0.48350750
96EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.47621970
97STAT1_17558387_ChIP-Seq_HELA_Human0.47602082
98ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.47014220
99RACK7_27058665_Chip-Seq_MCF-7_Human0.46958707
100P53_21459846_ChIP-Seq_SAOS-2_Human0.46784298
101PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.45815129
102P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.45377594
103PHF8_20622853_ChIP-Seq_HELA_Human0.45289585
104* BCOR_27268052_Chip-Seq_Bcells_Human0.45128517
105GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.45086913
106ESR1_21235772_ChIP-Seq_MCF-7_Human0.45013121
107CDX2_20551321_ChIP-Seq_CACO-2_Human0.44808672
108CTCF_20526341_ChIP-Seq_ESCs_Human0.44014996
109GATA3_21867929_ChIP-Seq_CD8_Mouse0.43908969
110PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.43888422
111TAF15_26573619_Chip-Seq_HEK293_Human0.43859193
112* PHF8_20622854_ChIP-Seq_HELA_Human0.43505036
113PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.43408090
114GATA1_19941826_ChIP-Seq_K562_Human0.42605533
115TAF2_19829295_ChIP-Seq_ESCs_Human0.41993406
116SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.41929921
117ERG_21242973_ChIP-ChIP_JURKAT_Human0.41160574
118FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.40995059
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.40850238
120FOXO3_23340844_ChIP-Seq_DLD1_Human0.40758173
121* GATA1_19941827_ChIP-Seq_MEL_Mouse0.39718605
122PPAR_26484153_Chip-Seq_NCI-H1993_Human0.39517366
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.39330431
124BCAT_22108803_ChIP-Seq_LS180_Human0.39057163
125GATA6_25053715_ChIP-Seq_YYC3_Human0.38666734
126MYC_27129775_Chip-Seq_CORNEA_Mouse0.37787935
127STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.37534657
128* GATA2_19941826_ChIP-Seq_K562_Human0.37368815
129ESR1_20079471_ChIP-ChIP_T-47D_Human0.37238257
130LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.36715048
131SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.35419100
132NCOR_22424771_ChIP-Seq_293T_Human0.34113430
133SPI1_26923725_Chip-Seq_HPCs_Mouse0.34096523
134CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.34076548
135FOXH1_21741376_ChIP-Seq_EPCs_Human0.33650669
136SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.33081500
137CDX2_22108803_ChIP-Seq_LS180_Human0.32933957

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.33245624
2MP0005360_urolithiasis7.61376626
3MP0005085_abnormal_gallbladder_physiolo6.41392878
4MP0005365_abnormal_bile_salt6.17289777
5MP0008875_abnormal_xenobiotic_pharmacok5.19683844
6MP0003806_abnormal_nucleotide_metabolis4.23592229
7MP0003252_abnormal_bile_duct3.89743158
8MP0010329_abnormal_lipoprotein_level3.57805723
9MP0009840_abnormal_foam_cell3.31442532
10MP0005083_abnormal_biliary_tract3.04588037
11MP0003195_calcinosis2.91417712
12* MP0005332_abnormal_amino_acid2.75813785
13MP0001666_abnormal_nutrient_absorption2.57247869
14MP0003191_abnormal_cellular_cholesterol2.31085210
15MP0004019_abnormal_vitamin_homeostasis2.19528766
16MP0000609_abnormal_liver_physiology2.15373773
17MP0002118_abnormal_lipid_homeostasis2.09972405
18MP0002138_abnormal_hepatobiliary_system2.00996499
19MP0003868_abnormal_feces_composition1.90429613
20MP0005319_abnormal_enzyme/_coenzyme1.83138982
21MP0001764_abnormal_homeostasis1.69250312
22MP0005584_abnormal_enzyme/coenzyme_acti1.58553599
23MP0009697_abnormal_copulation1.58464851
24MP0005451_abnormal_body_composition1.56730966
25MP0003011_delayed_dark_adaptation1.35651943
26MP0003186_abnormal_redox_activity1.29608571
27MP0002132_abnormal_respiratory_system1.25251961
28MP0003656_abnormal_erythrocyte_physiolo1.24052201
29* MP0009643_abnormal_urine_homeostasis1.22508817
30MP0000598_abnormal_liver_morphology1.17328241
31MP0003705_abnormal_hypodermis_morpholog1.15028620
32MP0005647_abnormal_sex_gland1.11164563
33MP0001915_intracranial_hemorrhage1.10173616
34MP0000604_amyloidosis1.08599491
35MP0009764_decreased_sensitivity_to1.05997438
36MP0009763_increased_sensitivity_to1.00615786
37MP0002254_reproductive_system_inflammat0.98336875
38MP0005636_abnormal_mineral_homeostasis0.95142775
39MP0010368_abnormal_lymphatic_system0.92123232
40MP0008469_abnormal_protein_level0.87851827
41* MP0009642_abnormal_blood_homeostasis0.86408638
42MP0005408_hypopigmentation0.85205113
43MP0006036_abnormal_mitochondrial_physio0.83991892
44MP0003879_abnormal_hair_cell0.83952655
45MP0005670_abnormal_white_adipose0.80058726
46MP0005376_homeostasis/metabolism_phenot0.79963833
47MP0009765_abnormal_xenobiotic_induced0.78279328
48MP0002078_abnormal_glucose_homeostasis0.77794883
49MP0002876_abnormal_thyroid_physiology0.77567529
50MP0005084_abnormal_gallbladder_morpholo0.76020504
51MP0002971_abnormal_brown_adipose0.71743484
52MP0005220_abnormal_exocrine_pancreas0.69857720
53MP0004130_abnormal_muscle_cell0.68212031
54MP0005334_abnormal_fat_pad0.68170671
55MP0001661_extended_life_span0.67674446
56MP0003690_abnormal_glial_cell0.67515016
57MP0005535_abnormal_body_temperature0.67414474
58MP0000566_synostosis0.66548678
59MP0009053_abnormal_anal_canal0.65311596
60MP0003329_amyloid_beta_deposits0.64962137
61MP0005266_abnormal_metabolism0.64784832
62MP0001756_abnormal_urination0.63620590
63MP0002282_abnormal_trachea_morphology0.62828911
64MP0000639_abnormal_adrenal_gland0.59949964
65MP0005187_abnormal_penis_morphology0.58682475
66MP0006035_abnormal_mitochondrial_morpho0.57046757
67MP0005448_abnormal_energy_balance0.54968499
68MP0002249_abnormal_larynx_morphology0.54654540
69MP0005464_abnormal_platelet_physiology0.52151778
70MP0002089_abnormal_postnatal_growth/wei0.50863593
71MP0002822_catalepsy0.50516746
72MP0005395_other_phenotype0.48947585
73MP0002136_abnormal_kidney_physiology0.48561254
74MP0003638_abnormal_response/metabolism_0.47430050
75MP0008874_decreased_physiological_sensi0.47106239
76MP0003718_maternal_effect0.45353714
77MP0002928_abnormal_bile_duct0.45011710
78MP0008873_increased_physiological_sensi0.44763799
79MP0003172_abnormal_lysosome_physiology0.43789891
80MP0002837_dystrophic_cardiac_calcinosis0.42787285
81MP0004782_abnormal_surfactant_physiolog0.42757460
82MP0005023_abnormal_wound_healing0.42267161
83MP0003953_abnormal_hormone_level0.40962256
84MP0003075_altered_response_to0.40902338
85MP0003724_increased_susceptibility_to0.40736007
86MP0003436_decreased_susceptibility_to0.40551429
87MP0005248_abnormal_Harderian_gland0.40113774
88MP0008872_abnormal_physiological_respon0.39275217
89MP0005666_abnormal_adipose_tissue0.37922475
90MP0009672_abnormal_birth_weight0.37296002
91MP0005166_decreased_susceptibility_to0.36347812
92MP0000230_abnormal_systemic_arterial0.33845422
93MP0004381_abnormal_hair_follicle0.33577298
94MP0002168_other_aberrant_phenotype0.32743110
95MP0009115_abnormal_fat_cell0.32488524
96MP0000249_abnormal_blood_vessel0.32156272
97MP0006082_CNS_inflammation0.31522253
98MP0001243_abnormal_dermal_layer0.31511266
99MP0004883_abnormal_blood_vessel0.31226140
100MP0002796_impaired_skin_barrier0.31098362
101MP0000579_abnormal_nail_morphology0.30812883
102MP0000003_abnormal_adipose_tissue0.30750660
103MP0003122_maternal_imprinting0.30119934
104MP0002697_abnormal_eye_size0.29950017
105MP0002970_abnormal_white_adipose0.29870125
106MP0001853_heart_inflammation0.28972840
107MP0009785_altered_susceptibility_to0.28823983
108MP0001845_abnormal_inflammatory_respons0.27631260
109MP0004272_abnormal_basement_membrane0.27394659
110MP0009384_cardiac_valve_regurgitation0.26467391
111MP0001881_abnormal_mammary_gland0.26235724
112MP0005058_abnormal_lysosome_morphology0.24885691
113MP0005197_abnormal_uvea_morphology0.24878689
114MP0002090_abnormal_vision0.23892757
115MP0005164_abnormal_response_to0.23891825
116MP0003959_abnormal_lean_body0.23883137
117MP0003878_abnormal_ear_physiology0.22922474
118MP0005377_hearing/vestibular/ear_phenot0.22922474
119MP0002135_abnormal_kidney_morphology0.22272861
120MP0005410_abnormal_fertilization0.21386109
121MP0000467_abnormal_esophagus_morphology0.18298680
122MP0005375_adipose_tissue_phenotype0.17902137

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.39319513
2Intrahepatic cholestasis (HP:0001406)7.24262629
3* Abnormality of aromatic amino acid family metabolism (HP:0004338)7.03550941
4Prolonged partial thromboplastin time (HP:0003645)6.51451846
5Hypobetalipoproteinemia (HP:0003563)6.46608695
6* Abnormality of monocarboxylic acid metabolism (HP:0010996)6.34410167
7Xanthomatosis (HP:0000991)6.31633656
8Hyperlipoproteinemia (HP:0010980)5.64796330
9Complement deficiency (HP:0004431)5.11036075
10Hypolipoproteinemia (HP:0010981)4.82324094
11Joint hemorrhage (HP:0005261)4.79719057
12Hyperammonemia (HP:0001987)4.70578759
13Epidermoid cyst (HP:0200040)4.51433761
14Hyperglycinemia (HP:0002154)4.47085771
15Abnormality of methionine metabolism (HP:0010901)4.42957014
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.41510494
17Abnormality of the common coagulation pathway (HP:0010990)4.39590016
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.37768995
19Ketosis (HP:0001946)4.33320550
20Abnormality of glutamine family amino acid metabolism (HP:0010902)4.31948648
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.27977099
22Hypoalphalipoproteinemia (HP:0003233)4.21570325
23Fat malabsorption (HP:0002630)4.06847725
24Hyperglycinuria (HP:0003108)4.05492754
25Abnormality of glycine metabolism (HP:0010895)4.01102872
26Abnormality of serine family amino acid metabolism (HP:0010894)4.01102872
27Abnormality of pyrimidine metabolism (HP:0004353)3.97567098
28Hypoglycemic coma (HP:0001325)3.86604078
29Abnormality of complement system (HP:0005339)3.72060414
30Abnormality of the intrinsic pathway (HP:0010989)3.71430226
31Conjugated hyperbilirubinemia (HP:0002908)3.66723070
32Hypercholesterolemia (HP:0003124)3.64312657
33Nephritis (HP:0000123)3.54818816
34Abnormality of fatty-acid metabolism (HP:0004359)3.40748080
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.39672661
36Hyperbilirubinemia (HP:0002904)3.35370414
37Delayed CNS myelination (HP:0002188)3.17136005
38Abnormality of nucleobase metabolism (HP:0010932)3.16530101
39Abnormality of serum amino acid levels (HP:0003112)3.14322027
40Ketoacidosis (HP:0001993)3.08019933
41Steatorrhea (HP:0002570)3.05236976
42Hepatocellular carcinoma (HP:0001402)3.00196326
43Spontaneous abortion (HP:0005268)2.97736282
44Myocardial infarction (HP:0001658)2.91943818
45Hypochromic microcytic anemia (HP:0004840)2.90317076
46Skin nodule (HP:0200036)2.78164258
47Abnormality of purine metabolism (HP:0004352)2.76011602
48Purpura (HP:0000979)2.74430525
49Lethargy (HP:0001254)2.67158183
50* Metabolic acidosis (HP:0001942)2.66459378
51Vascular calcification (HP:0004934)2.65190753
52Dicarboxylic aciduria (HP:0003215)2.64137616
53Abnormality of dicarboxylic acid metabolism (HP:0010995)2.64137616
54Systemic lupus erythematosus (HP:0002725)2.61674137
55Osteomalacia (HP:0002749)2.57192508
56Gout (HP:0001997)2.56091277
57Acanthocytosis (HP:0001927)2.52375606
58Spastic diplegia (HP:0001264)2.51727910
59Cerebral edema (HP:0002181)2.49994730
60Hypoglycemic seizures (HP:0002173)2.45100059
61Abnormal gallbladder morphology (HP:0012437)2.43873882
62Mitral stenosis (HP:0001718)2.43827852
63Glomerulonephritis (HP:0000099)2.42428774
64Irritability (HP:0000737)2.42131238
65Neonatal onset (HP:0003623)2.40364025
66Reduced antithrombin III activity (HP:0001976)2.39061376
67Cholelithiasis (HP:0001081)2.37672935
68Cardiovascular calcification (HP:0011915)2.35147304
69Malnutrition (HP:0004395)2.32685121
70Abnormal gallbladder physiology (HP:0012438)2.29434926
71Cholecystitis (HP:0001082)2.29434926
72Amyloidosis (HP:0011034)2.29140610
73Fair hair (HP:0002286)2.28001174
74Abnormality of the Achilles tendon (HP:0005109)2.27194855
75Pulmonary embolism (HP:0002204)2.22632410
76Arthropathy (HP:0003040)2.20584275
77Esophageal varix (HP:0002040)2.18246623
78Recurrent gram-negative bacterial infections (HP:0005420)2.18051202
79Gingival bleeding (HP:0000225)2.17057848
80Pancreatitis (HP:0001733)2.15270092
81Menorrhagia (HP:0000132)2.14889266
82Enlarged kidneys (HP:0000105)2.14582429
83Brushfield spots (HP:0001088)2.14424602
84Late onset (HP:0003584)2.13653644
85Sensorimotor neuropathy (HP:0007141)2.13466352
86Vomiting (HP:0002013)2.12988535
87Generalized aminoaciduria (HP:0002909)2.11987569
88Thrombophlebitis (HP:0004418)2.07696157
89Opisthotonus (HP:0002179)2.03977255
90Alkalosis (HP:0001948)2.00341502
91Poikilocytosis (HP:0004447)1.99954015
92Hyperinsulinemic hypoglycemia (HP:0000825)1.98189872
93Hemorrhage of the eye (HP:0011885)1.97908300
94Hyperphosphaturia (HP:0003109)1.97896743
95Abnormality of the gallbladder (HP:0005264)1.97686429
96Rickets (HP:0002748)1.97255103
97Neonatal hypoglycemia (HP:0001998)1.95363676
98Increased serum pyruvate (HP:0003542)1.95273655
99Abnormality of proline metabolism (HP:0010907)1.93852960
100Hydroxyprolinuria (HP:0003080)1.93852960
101Abnormal cartilage morphology (HP:0002763)1.89887311
102Abnormality of iron homeostasis (HP:0011031)1.89324754
103Elevated alkaline phosphatase (HP:0003155)1.89258610
104Hypophosphatemic rickets (HP:0004912)1.88595718
105Bifid scrotum (HP:0000048)1.87726533
106Renal cortical cysts (HP:0000803)1.86586163
107Abnormality of transition element cation homeostasis (HP:0011030)1.86580263
108Increased serum ferritin (HP:0003281)1.84818233
109Glycosuria (HP:0003076)1.83088568
110Abnormality of urine glucose concentration (HP:0011016)1.83088568
111Abnormal enzyme/coenzyme activity (HP:0012379)1.82055679
112Status epilepticus (HP:0002133)1.81611745
113Elevated hepatic transaminases (HP:0002910)1.81370121
114Proximal tubulopathy (HP:0000114)1.79048566
115Abnormality of vitamin metabolism (HP:0100508)1.78642242
116Retinal atrophy (HP:0001105)1.77166167
117Hyperuricemia (HP:0002149)1.76061662
118Increased purine levels (HP:0004368)1.76061662
119Abnormality of alkaline phosphatase activity (HP:0004379)1.75796993
120Reticulocytosis (HP:0001923)1.75632033
121Abnormality of glycolysis (HP:0004366)1.74936249
122Gangrene (HP:0100758)1.73981550
123Abnormal tarsal ossification (HP:0008369)1.71183024
124Abnormal urine phosphate concentration (HP:0012599)1.69957861
125Increased mean platelet volume (HP:0011877)1.65455179
126Joint swelling (HP:0001386)1.64204699
127Submucous cleft hard palate (HP:0000176)1.58062698
128Impaired platelet aggregation (HP:0003540)1.57106398
129Abnormal platelet function (HP:0011869)1.57106398

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.35501147
2SIK14.63991854
3PDK24.62171710
4FGFR44.58847382
5ERN14.22464253
6INSRR2.97981163
7TAOK32.96641926
8ERBB42.74457202
9MAP2K42.35139258
10PKN22.34190341
11MST1R2.10219850
12FLT31.96636036
13CDK121.86130435
14PIK3CG1.84308674
15MAPK111.83947791
16PIK3CA1.82183413
17TRIB31.80001861
18TYK21.67192531
19LATS11.61782588
20WNK41.61717265
21PRPF4B1.56929936
22DAPK21.55896170
23AKT31.53055799
24ABL21.51007425
25PTK61.47801636
26FGFR21.39381374
27EIF2AK11.38832061
28FRK1.37314984
29NEK91.32399845
30EEF2K1.31825109
31KDR1.31781166
32PINK11.22388742
33JAK21.20411046
34MAP3K71.19078722
35PRKAA21.12924260
36GRK61.10137962
37MAP2K31.07588127
38TBK11.04508434
39JAK10.98947477
40MAPK40.98547962
41MAP3K100.98201328
42ERBB20.97254458
43MAP3K140.95409057
44PRKCZ0.93531811
45STK38L0.93131432
46PDGFRA0.87328761
47NTRK30.85669198
48EPHB10.84909346
49SMG10.84251178
50MAP3K30.83960457
51MET0.83905929
52MAPK120.82510764
53MAPK150.82270439
54CDK60.81372918
55TIE10.79313695
56MAP3K110.79209394
57PRKACG0.76629182
58CDK70.74875357
59DYRK1B0.73305869
60SGK10.72495278
61MAPKAPK30.71358520
62CSK0.71258992
63MAP3K20.70858515
64EPHA30.69939772
65GSK3A0.69827299
66MAP2K60.69305638
67CAMK2G0.69164124
68TYRO30.67991217
69SGK30.67252386
70PRKAA10.66658058
71CSNK1E0.65704327
72CAMK1D0.65403521
73FGFR10.65010745
74PRKG10.65000806
75NME20.60275075
76STK380.60150294
77RIPK10.59868262
78TGFBR20.59250599
79MAPK70.58229067
80IRAK30.57933669
81PTK20.57143832
82SIK20.56202522
83CSF1R0.55650402
84FGFR30.55501123
85NEK10.54705190
86KSR20.54503959
87PDPK10.54370582
88EPHA40.53861327
89IKBKE0.53522040
90PRKACA0.52691077
91PRKCQ0.52267481
92CSNK1G10.51840137
93RPS6KA30.51546435
94CSNK1D0.51545139
95MAP3K120.50053690
96SGK20.50012792
97DDR20.47947350
98TAOK20.47764272
99AKT20.47190636
100GRK10.44796419
101SRC0.44729328
102NEK60.44323028
103CSNK2A20.43740421
104IGF1R0.43665654
105STK160.43280322
106MAP3K50.43174581
107MAP3K130.42095294
108RET0.41980056
109MAP2K10.41182999
110CDK40.40964574
111PRKCG0.40920815
112RPS6KB10.40918416
113SGK2230.40457347
114SGK4940.40457347
115CSNK2A10.39533319
116ICK0.38097314
117PRKCB0.37679215
118MAP3K60.35829338
119PIM20.35576261
120BRSK20.35186366
121MAPK100.34844028
122PDK10.34368181
123MTOR0.34143939
124PBK0.33763717
125CAMK40.32870683
126PKN10.32741937
127CSNK1G20.32063479
128EGFR0.31255534
129PRKACB0.30920624
130MYLK0.30851065
131CSNK1G30.29154498
132PDK40.28785101
133PDK30.28785101
134IRAK20.26788085
135PRKCA0.26135436
136MAP3K10.25460223
137LATS20.24790996
138IRAK10.23616142
139MAP2K20.21311749
140PAK30.20147226
141ABL10.20125494
142CSNK1A1L0.19891490

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.48480689
2Nitrogen metabolism_Homo sapiens_hsa009103.65619466
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.46182858
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.41049676
5Arginine biosynthesis_Homo sapiens_hsa002203.13960871
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.71877290
7Tryptophan metabolism_Homo sapiens_hsa003802.70473959
8Complement and coagulation cascades_Homo sapiens_hsa046102.69694357
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.66249413
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58633051
11Fatty acid degradation_Homo sapiens_hsa000712.49990317
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41319316
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.29319831
14Butanoate metabolism_Homo sapiens_hsa006502.18029373
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.14883862
16Peroxisome_Homo sapiens_hsa041462.09421504
17Chemical carcinogenesis_Homo sapiens_hsa052041.96276484
18Propanoate metabolism_Homo sapiens_hsa006401.95887709
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.93977219
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.93897576
21Histidine metabolism_Homo sapiens_hsa003401.92505208
22PPAR signaling pathway_Homo sapiens_hsa033201.86823109
23Fatty acid metabolism_Homo sapiens_hsa012121.81075646
24Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.79518676
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.78499065
26Caffeine metabolism_Homo sapiens_hsa002321.73808448
27beta-Alanine metabolism_Homo sapiens_hsa004101.73764038
28Staphylococcus aureus infection_Homo sapiens_hsa051501.72241298
29Retinol metabolism_Homo sapiens_hsa008301.70373498
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66788363
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.65572367
32Selenocompound metabolism_Homo sapiens_hsa004501.59633482
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.56611467
34Bile secretion_Homo sapiens_hsa049761.49901336
35Pyruvate metabolism_Homo sapiens_hsa006201.38202520
36Sulfur metabolism_Homo sapiens_hsa009201.38072402
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.37026901
38Fatty acid elongation_Homo sapiens_hsa000621.33645377
39Starch and sucrose metabolism_Homo sapiens_hsa005001.27646661
40* Tyrosine metabolism_Homo sapiens_hsa003501.25122949
41Biosynthesis of amino acids_Homo sapiens_hsa012301.24383087
42* Phenylalanine metabolism_Homo sapiens_hsa003601.23879205
43Folate biosynthesis_Homo sapiens_hsa007901.22469733
44ABC transporters_Homo sapiens_hsa020101.18091025
45Steroid biosynthesis_Homo sapiens_hsa001001.17552975
46Carbon metabolism_Homo sapiens_hsa012001.14775028
47Fat digestion and absorption_Homo sapiens_hsa049751.14580551
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.04967388
49Cyanoamino acid metabolism_Homo sapiens_hsa004601.04503540
50Arginine and proline metabolism_Homo sapiens_hsa003300.99731013
51Maturity onset diabetes of the young_Homo sapiens_hsa049500.97949531
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.97514530
53Sulfur relay system_Homo sapiens_hsa041220.95189251
54* Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.93817023
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89727629
56Vitamin B6 metabolism_Homo sapiens_hsa007500.88846303
57Vitamin digestion and absorption_Homo sapiens_hsa049770.87122892
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.86512160
59Lysine degradation_Homo sapiens_hsa003100.82877138
60One carbon pool by folate_Homo sapiens_hsa006700.76355222
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70925201
62Glycerolipid metabolism_Homo sapiens_hsa005610.67974524
63Glutathione metabolism_Homo sapiens_hsa004800.65531516
64Pentose phosphate pathway_Homo sapiens_hsa000300.57730255
65Fatty acid biosynthesis_Homo sapiens_hsa000610.51774340
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50870170
67* Metabolic pathways_Homo sapiens_hsa011000.46262228
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.36674402
69Pertussis_Homo sapiens_hsa051330.30994823
70Prion diseases_Homo sapiens_hsa050200.30444254
71Other glycan degradation_Homo sapiens_hsa005110.29067279
72Galactose metabolism_Homo sapiens_hsa000520.24923662
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.24734943
74Fructose and mannose metabolism_Homo sapiens_hsa000510.24616675
75Insulin resistance_Homo sapiens_hsa049310.22825679
76Linoleic acid metabolism_Homo sapiens_hsa005910.22190367
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.21577020
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19672281
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.15219122
80Glucagon signaling pathway_Homo sapiens_hsa049220.09525199
81AMPK signaling pathway_Homo sapiens_hsa041520.02146103
82Type II diabetes mellitus_Homo sapiens_hsa04930-0.2638465
83Amoebiasis_Homo sapiens_hsa05146-0.2521151
84Ether lipid metabolism_Homo sapiens_hsa00565-0.2511399
85Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2397980
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2326720
87Circadian rhythm_Homo sapiens_hsa04710-0.2203603
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2112268
89Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2109960
90Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1855938
91Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1855736
92Hepatitis C_Homo sapiens_hsa05160-0.1850748
93Renin-angiotensin system_Homo sapiens_hsa04614-0.1767938
94Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1695768
95Serotonergic synapse_Homo sapiens_hsa04726-0.1659218
96Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1579526
97Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1553596
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1538425
99African trypanosomiasis_Homo sapiens_hsa05143-0.1465260
100Regulation of autophagy_Homo sapiens_hsa04140-0.1391513
101Sphingolipid metabolism_Homo sapiens_hsa00600-0.1277874
102Insulin signaling pathway_Homo sapiens_hsa04910-0.1035252
103Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0961940
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0857802
105N-Glycan biosynthesis_Homo sapiens_hsa00510-0.0798856
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0673825
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0341119
108Mineral absorption_Homo sapiens_hsa04978-0.0012001

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