PC

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 pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)5.82934229
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.66906189
3L-phenylalanine metabolic process (GO:0006558)5.66906189
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.63454658
5L-phenylalanine catabolic process (GO:0006559)5.63454658
6urea metabolic process (GO:0019627)5.32272324
7regulation of protein activation cascade (GO:2000257)5.25397719
8low-density lipoprotein particle clearance (GO:0034383)5.02541913
9protein carboxylation (GO:0018214)5.02482371
10peptidyl-glutamic acid carboxylation (GO:0017187)5.02482371
11regulation of complement activation (GO:0030449)5.01448951
12urea cycle (GO:0000050)5.00509246
13negative regulation of fibrinolysis (GO:0051918)4.96470301
14regulation of fibrinolysis (GO:0051917)4.84732709
15nitrogen cycle metabolic process (GO:0071941)4.79407289
16epoxygenase P450 pathway (GO:0019373)4.73184479
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.63920086
18omega-hydroxylase P450 pathway (GO:0097267)4.63794172
19ethanol oxidation (GO:0006069)4.56260670
20acylglycerol catabolic process (GO:0046464)4.38052147
21neutral lipid catabolic process (GO:0046461)4.38052147
22triglyceride catabolic process (GO:0019433)4.36135759
23exogenous drug catabolic process (GO:0042738)4.32495045
24plasma lipoprotein particle clearance (GO:0034381)4.27809716
25positive regulation of triglyceride lipase activity (GO:0061365)4.23457453
26positive regulation of lipoprotein lipase activity (GO:0051006)4.23457453
27regulation of cholesterol esterification (GO:0010872)4.08536009
28regulation of cholesterol biosynthetic process (GO:0045540)4.06781023
29alpha-linolenic acid metabolic process (GO:0036109)4.01306181
30glyoxylate metabolic process (GO:0046487)4.00880389
31drug catabolic process (GO:0042737)3.99405830
32regulation of plasminogen activation (GO:0010755)3.93865660
33fibrinolysis (GO:0042730)3.86283974
34fatty acid homeostasis (GO:0055089)3.75475659
35ethanol metabolic process (GO:0006067)3.72801999
36negative regulation of cholesterol transport (GO:0032375)3.70683944
37negative regulation of sterol transport (GO:0032372)3.70683944
38plasma lipoprotein particle remodeling (GO:0034369)3.66727404
39protein-lipid complex remodeling (GO:0034368)3.66727404
40macromolecular complex remodeling (GO:0034367)3.66727404
41very-low-density lipoprotein particle assembly (GO:0034379)3.61999228
42acylglycerol homeostasis (GO:0055090)3.56920095
43triglyceride homeostasis (GO:0070328)3.56920095
44positive regulation of fatty acid biosynthetic process (GO:0045723)3.56322064
45acute-phase response (GO:0006953)3.48267541
46negative regulation of lipase activity (GO:0060192)3.46912233
47fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.43864271
48blood coagulation, intrinsic pathway (GO:0007597)3.42655221
49cholesterol efflux (GO:0033344)3.42363771
50regulation of triglyceride catabolic process (GO:0010896)3.38728953
51regulation of cholesterol homeostasis (GO:2000188)3.38303984
52phospholipid efflux (GO:0033700)3.37492669
53glutamate metabolic process (GO:0006536)3.37000864
54diacylglycerol metabolic process (GO:0046339)3.32622683
55NADH metabolic process (GO:0006734)3.31463687
56regulation of cholesterol metabolic process (GO:0090181)3.26260479
57positive regulation of lipid catabolic process (GO:0050996)3.21253358
58glycerolipid catabolic process (GO:0046503)3.20615151
59proline metabolic process (GO:0006560)3.19859979
60opsonization (GO:0008228)3.18728560
61protein activation cascade (GO:0072376)3.14272224
62aromatic amino acid family catabolic process (GO:0009074)3.12289731
63bile acid metabolic process (GO:0008206)3.11783378
64positive regulation of triglyceride metabolic process (GO:0090208)3.10679209
65high-density lipoprotein particle remodeling (GO:0034375)3.10175372
66negative regulation of blood coagulation (GO:0030195)3.09100005
67negative regulation of hemostasis (GO:1900047)3.09100005
68plasma lipoprotein particle assembly (GO:0034377)3.08568240
69regulation of apoptotic cell clearance (GO:2000425)3.08399136
70drug metabolic process (GO:0017144)3.08202198
71bile acid biosynthetic process (GO:0006699)3.07482389
72intestinal cholesterol absorption (GO:0030299)3.05656943
73dicarboxylic acid biosynthetic process (GO:0043650)3.05573389
74negative regulation of protein activation cascade (GO:2000258)3.05536346
75plasma lipoprotein particle organization (GO:0071827)3.05209766
76protein-lipid complex assembly (GO:0065005)3.03562658
77protein-lipid complex subunit organization (GO:0071825)3.02682993
78regulation of cholesterol storage (GO:0010885)3.02214946
79serine family amino acid catabolic process (GO:0009071)2.98313842
80glutamine family amino acid biosynthetic process (GO:0009084)2.98011596
81complement activation (GO:0006956)2.97649129
82triglyceride metabolic process (GO:0006641)2.97425790
83complement activation, classical pathway (GO:0006958)2.92542355
84acetyl-CoA metabolic process (GO:0006084)2.92370557
85regulation of triglyceride metabolic process (GO:0090207)2.91151127
86tricarboxylic acid metabolic process (GO:0072350)2.87658337
87negative regulation of lipid transport (GO:0032369)2.87354631
88tyrosine metabolic process (GO:0006570)2.87077895
89acylglycerol metabolic process (GO:0006639)2.86679340
90reverse cholesterol transport (GO:0043691)2.84828063
91neutral lipid metabolic process (GO:0006638)2.81644562
92negative regulation of coagulation (GO:0050819)2.81276240
93low-density lipoprotein particle remodeling (GO:0034374)2.79755979
94response to mercury ion (GO:0046689)2.79527994
95positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.78737636
96positive regulation of blood coagulation (GO:0030194)2.77220675
97positive regulation of hemostasis (GO:1900048)2.77220675
98regulation of fatty acid biosynthetic process (GO:0042304)2.75870067
99negative regulation of wound healing (GO:0061045)2.74674168
100positive regulation of steroid metabolic process (GO:0045940)2.70972856

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.81591793
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.64214737
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.72148129
4RXR_22158963_ChIP-Seq_LIVER_Mouse3.68515766
5PPARA_22158963_ChIP-Seq_LIVER_Mouse3.25148836
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.22335075
7RARG_19884340_ChIP-ChIP_MEFs_Mouse3.03986006
8THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.91150686
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.74445370
10ZNF263_19887448_ChIP-Seq_K562_Human2.71607786
11LXR_22292898_ChIP-Seq_THP-1_Human2.59041992
12TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.52666745
13ESR2_21235772_ChIP-Seq_MCF-7_Human2.46102144
14CLOCK_20551151_ChIP-Seq_293T_Human2.34377368
15TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.29124258
16NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.26787214
17TRIM28_21343339_ChIP-Seq_HEK293_Human2.19286468
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.15318685
19EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.97663484
20ERG_21242973_ChIP-ChIP_JURKAT_Human1.97086767
21RACK7_27058665_Chip-Seq_MCF-7_Human1.87638446
22NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.85334479
23* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.72805165
24PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.71489003
25EGR1_23403033_ChIP-Seq_LIVER_Mouse1.70789815
26* ELK3_25401928_ChIP-Seq_HUVEC_Human1.69058782
27SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.65976157
28KDM2B_26808549_Chip-Seq_K562_Human1.62826686
29CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.62423064
30TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53730086
31SMC4_20622854_ChIP-Seq_HELA_Human1.51652875
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.50607122
33ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47070900
34* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.45898084
35TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.44967471
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.44342115
37* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.43510630
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.43433397
39TET1_21451524_ChIP-Seq_MESCs_Mouse1.42938726
40KDM2B_26808549_Chip-Seq_SUP-B15_Human1.42834707
41TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.41843216
42SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.39538130
43P68_20966046_ChIP-Seq_HELA_Human1.39299899
44NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.37490518
45SRY_22984422_ChIP-ChIP_TESTIS_Rat1.36497157
46SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.34810081
47WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.33607042
48ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.33321476
49ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.32761712
50* FOXA2_19822575_ChIP-Seq_HepG2_Human1.32009213
51CTCF_27219007_Chip-Seq_Bcells_Human1.30489239
52RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.27530276
53ESR1_15608294_ChIP-ChIP_MCF-7_Human1.25972822
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.20843424
55KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.17849163
56ESR1_21235772_ChIP-Seq_MCF-7_Human1.17231451
57TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16504863
58KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14124182
59CREB1_26743006_Chip-Seq_LNCaP_Human1.12860318
60* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.12386278
61SA1_27219007_Chip-Seq_ERYTHROID_Human1.11295327
62* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.08424654
63* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07542173
64CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.05622039
65CTCF_27219007_Chip-Seq_ERYTHROID_Human1.04942686
66SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.04569886
67TET1_21490601_ChIP-Seq_MESCs_Mouse1.04131333
68* HNF4A_19822575_ChIP-Seq_HepG2_Human1.00780088
69KDM2B_26808549_Chip-Seq_DND41_Human0.99765883
70CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.99068163
71VDR_21846776_ChIP-Seq_THP-1_Human0.97439342
72CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97306691
73TBX20_22328084_ChIP-Seq_HEART_Mouse0.95642947
74TBX20_22080862_ChIP-Seq_HEART_Mouse0.95642947
75TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95156351
76RARB_27405468_Chip-Seq_BRAIN_Mouse0.94957210
77* ATF3_27146783_Chip-Seq_COLON_Human0.94804625
78NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.94615514
79POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94555121
80ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93826329
81STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.91726367
82TCF7_22412390_ChIP-Seq_EML_Mouse0.91472856
83RUNX1_27514584_Chip-Seq_MCF-7_Human0.91145643
84SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.90791364
85NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89599975
86DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.89558259
87MTF2_20144788_ChIP-Seq_MESCs_Mouse0.89224687
88GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.88558746
89JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.88202170
90* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.86750022
91TP63_22573176_ChIP-Seq_HFKS_Human0.86496873
92SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.86155786
93SOX9_24532713_ChIP-Seq_HFSC_Mouse0.85773701
94RNF2_18974828_ChIP-Seq_MESCs_Mouse0.85722194
95EZH2_18974828_ChIP-Seq_MESCs_Mouse0.85722194
96HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.84945602
97RXRA_24833708_ChIP-Seq_LIVER_Mouse0.84869674
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.84859455
99BCOR_27268052_Chip-Seq_Bcells_Human0.84727462
100SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.84499302

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.32175416
2MP0005360_urolithiasis4.82043426
3MP0005670_abnormal_white_adipose4.20916991
4MP0005365_abnormal_bile_salt4.04847930
5MP0005085_abnormal_gallbladder_physiolo3.30547880
6MP0009840_abnormal_foam_cell3.11529802
7MP0008875_abnormal_xenobiotic_pharmacok3.07514218
8MP0010329_abnormal_lipoprotein_level3.03708866
9MP0003191_abnormal_cellular_cholesterol3.00226786
10MP0003705_abnormal_hypodermis_morpholog2.80587156
11MP0005666_abnormal_adipose_tissue2.73413558
12MP0002971_abnormal_brown_adipose2.32426446
13MP0003868_abnormal_feces_composition2.16829551
14MP0003329_amyloid_beta_deposits2.14819849
15MP0005058_abnormal_lysosome_morphology2.12178531
16MP0004185_abnormal_adipocyte_glucose2.08108430
17MP0003195_calcinosis2.06678216
18MP0005375_adipose_tissue_phenotype2.00072778
19MP0004130_abnormal_muscle_cell1.99282968
20MP0005451_abnormal_body_composition1.98540408
21MP0002118_abnormal_lipid_homeostasis1.91856978
22MP0001666_abnormal_nutrient_absorption1.84900811
23MP0003879_abnormal_hair_cell1.76793885
24MP0005332_abnormal_amino_acid1.72378050
25MP0003690_abnormal_glial_cell1.71112192
26MP0009780_abnormal_chondrocyte_physiolo1.66762060
27MP0000604_amyloidosis1.63460873
28MP0000609_abnormal_liver_physiology1.62559718
29MP0008438_abnormal_cutaneous_collagen1.60728191
30MP0000566_synostosis1.60336121
31MP0001661_extended_life_span1.48606408
32MP0003252_abnormal_bile_duct1.44380407
33MP0000003_abnormal_adipose_tissue1.43022805
34MP0003566_abnormal_cell_adhesion1.37256393
35MP0004272_abnormal_basement_membrane1.33590969
36MP0005409_darkened_coat_color1.33010171
37MP0003075_altered_response_to1.32232999
38MP0000751_myopathy1.28129657
39MP0005334_abnormal_fat_pad1.26321162
40MP0002089_abnormal_postnatal_growth/wei1.26040455
41MP0004858_abnormal_nervous_system1.24006162
42MP0002970_abnormal_white_adipose1.23760737
43MP0005584_abnormal_enzyme/coenzyme_acti1.23601024
44MP0004019_abnormal_vitamin_homeostasis1.20445447
45MP0009115_abnormal_fat_cell1.18188917
46MP0010368_abnormal_lymphatic_system1.16809911
47MP0005083_abnormal_biliary_tract1.15635329
48MP0004859_abnormal_synaptic_plasticity1.15025257
49MP0002876_abnormal_thyroid_physiology1.11133651
50MP0005535_abnormal_body_temperature1.10359760
51MP0004270_analgesia1.04988082
52MP0001849_ear_inflammation1.04740773
53MP0010234_abnormal_vibrissa_follicle1.02545805
54MP0003453_abnormal_keratinocyte_physiol0.98760805
55MP0005076_abnormal_cell_differentiation0.97932034
56MP0005257_abnormal_intraocular_pressure0.97143065
57MP0002138_abnormal_hepatobiliary_system0.96772441
58MP0006138_congestive_heart_failure0.95482540
59MP0003959_abnormal_lean_body0.94428323
60MP0000920_abnormal_myelination0.94132270
61MP0002249_abnormal_larynx_morphology0.93912289
62MP0005448_abnormal_energy_balance0.93567170
63MP0008260_abnormal_autophagy0.91438570
64MP0001915_intracranial_hemorrhage0.90813723
65MP0000678_abnormal_parathyroid_gland0.85662835
66MP0002078_abnormal_glucose_homeostasis0.84948429
67MP0005167_abnormal_blood-brain_barrier0.84755686
68MP0005319_abnormal_enzyme/_coenzyme0.83743601
69MP0003634_abnormal_glial_cell0.83687586
70MP0009643_abnormal_urine_homeostasis0.83438028
71MP0002909_abnormal_adrenal_gland0.81944997
72MP0001764_abnormal_homeostasis0.81686122
73MP0005023_abnormal_wound_healing0.81512572
74MP0000579_abnormal_nail_morphology0.78948048
75MP0002896_abnormal_bone_mineralization0.78307018
76MP0003011_delayed_dark_adaptation0.76847490
77MP0003172_abnormal_lysosome_physiology0.75774039
78MP0003186_abnormal_redox_activity0.73706188
79MP0000467_abnormal_esophagus_morphology0.73384837
80MP0003123_paternal_imprinting0.72536649
81MP0002796_impaired_skin_barrier0.72509889
82MP0009672_abnormal_birth_weight0.71324123
83MP0000598_abnormal_liver_morphology0.71180113
84MP0005452_abnormal_adipose_tissue0.71093773
85MP0004233_abnormal_muscle_weight0.70057959
86MP0002060_abnormal_skin_morphology0.69663893
87MP0008874_decreased_physiological_sensi0.67081924
88MP0000013_abnormal_adipose_tissue0.65727260
89MP0000747_muscle_weakness0.63334779
90MP0005423_abnormal_somatic_nervous0.62308050
91MP0003633_abnormal_nervous_system0.62273126
92MP0009053_abnormal_anal_canal0.61544657
93MP0003632_abnormal_nervous_system0.60302748
94MP0003631_nervous_system_phenotype0.57442130
95MP0000762_abnormal_tongue_morphology0.57408992
96MP0004087_abnormal_muscle_fiber0.54729192
97MP0005647_abnormal_sex_gland0.54203028
98MP0002064_seizures0.53984639
99MP0003953_abnormal_hormone_level0.53916126
100MP0009642_abnormal_blood_homeostasis0.52970312

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.82449163
2Complement deficiency (HP:0004431)6.71852241
3Abnormality of monocarboxylic acid metabolism (HP:0010996)6.10054483
4Abnormality of complement system (HP:0005339)5.57161213
5Abnormality of aromatic amino acid family metabolism (HP:0004338)5.52315527
6Prolonged partial thromboplastin time (HP:0003645)4.79567111
7Xanthomatosis (HP:0000991)4.49635879
8Systemic lupus erythematosus (HP:0002725)4.33147415
9Hypobetalipoproteinemia (HP:0003563)4.23113846
10Joint hemorrhage (HP:0005261)4.09153733
11Conjugated hyperbilirubinemia (HP:0002908)3.91383062
12Glomerulonephritis (HP:0000099)3.81591390
13Hypercholesterolemia (HP:0003124)3.54928556
14Hyperlipoproteinemia (HP:0010980)3.46631041
15Intrahepatic cholestasis (HP:0001406)3.36726332
16Hemorrhage of the eye (HP:0011885)3.30546702
17Hypoalphalipoproteinemia (HP:0003233)3.21238938
18Hypolipoproteinemia (HP:0010981)3.19079827
19Abnormality of the common coagulation pathway (HP:0010990)3.03344784
20Mitral stenosis (HP:0001718)2.90059754
21Abnormality of the intrinsic pathway (HP:0010989)2.83352118
22Myocardial infarction (HP:0001658)2.80475752
23Neurofibrillary tangles (HP:0002185)2.78208242
24Cerebral inclusion bodies (HP:0100314)2.74826940
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.74029525
26Hypertriglyceridemia (HP:0002155)2.70980038
27Epidermoid cyst (HP:0200040)2.70675786
28Back pain (HP:0003418)2.69146140
29Nephritis (HP:0000123)2.68224051
30Skin nodule (HP:0200036)2.55658050
31Abnormality of the Achilles tendon (HP:0005109)2.54101859
32Abnormality of glutamine family amino acid metabolism (HP:0010902)2.51683869
33Axonal loss (HP:0003447)2.51255955
34Acanthosis nigricans (HP:0000956)2.49920927
35Vertebral compression fractures (HP:0002953)2.47551852
36Vascular calcification (HP:0004934)2.45528835
37Spontaneous abortion (HP:0005268)2.43112729
38Abnormality of pyrimidine metabolism (HP:0004353)2.38212660
39Abnormal gallbladder physiology (HP:0012438)2.35934979
40Cholecystitis (HP:0001082)2.35934979
41Protrusio acetabuli (HP:0003179)2.35141125
42Cardiovascular calcification (HP:0011915)2.26681146
43Fat malabsorption (HP:0002630)2.21900302
44Abnormality of carpal bone ossification (HP:0006257)2.16498529
45Amyloidosis (HP:0011034)2.15009172
46Premature rupture of membranes (HP:0001788)2.13035017
47Hyperammonemia (HP:0001987)2.12503503
48Neonatal onset (HP:0003623)2.11833096
49Cholelithiasis (HP:0001081)2.09803192
50Cerebral aneurysm (HP:0004944)2.08526542
51Achilles tendon contracture (HP:0001771)2.03378845
52Distal upper limb amyotrophy (HP:0007149)1.97716531
53Upper limb amyotrophy (HP:0009129)1.97716531
54Hepatocellular carcinoma (HP:0001402)1.92435984
55Myokymia (HP:0002411)1.86583369
56Abnormal ossification of hand bones (HP:0005921)1.86055511
57Ulnar bowing (HP:0003031)1.85500992
58Retinal atrophy (HP:0001105)1.84307419
59Rickets (HP:0002748)1.84060505
60Abnormal gallbladder morphology (HP:0012437)1.82771248
61Bronchomalacia (HP:0002780)1.81720101
62Short nail (HP:0001799)1.78069401
63Neonatal death (HP:0003811)1.78035929
64Recurrent gram-negative bacterial infections (HP:0005420)1.76879532
65Flat acetabular roof (HP:0003180)1.75528798
66Purpura (HP:0000979)1.75500935
67Mucopolysacchariduria (HP:0008155)1.74304856
68Urinary glycosaminoglycan excretion (HP:0003541)1.74304856
69Cervical subluxation (HP:0003308)1.72533010
70Abnormal delivery (HP:0001787)1.72481985
71Distal lower limb muscle weakness (HP:0009053)1.71578813
72Shallow orbits (HP:0000586)1.70805697
73Atrophic scars (HP:0001075)1.70417505
74Hyperacusis (HP:0010780)1.69589556
75Obstructive sleep apnea (HP:0002870)1.68579607
76Abnormality of polysaccharide metabolism (HP:0011012)1.64960021
77Abnormality of glycosaminoglycan metabolism (HP:0004371)1.64960021
78Abnormality of mucopolysaccharide metabolism (HP:0011020)1.64960021
79Atrioventricular block (HP:0001678)1.64937668
80Stridor (HP:0010307)1.64897916
81Growth hormone excess (HP:0000845)1.64862145
82Oligomenorrhea (HP:0000876)1.64697906
83Insulin resistance (HP:0000855)1.63325798
84Delayed CNS myelination (HP:0002188)1.63017646
85Pathologic fracture (HP:0002756)1.62480243
86Supranuclear gaze palsy (HP:0000605)1.62465089
87Elevated alkaline phosphatase (HP:0003155)1.62320795
88Steatorrhea (HP:0002570)1.61311016
89Advanced eruption of teeth (HP:0006288)1.60848668
90Reticulocytosis (HP:0001923)1.60653367
91Generalized aminoaciduria (HP:0002909)1.60161068
92Paraparesis (HP:0002385)1.60062613
93Turricephaly (HP:0000262)1.59967949
94Increased connective tissue (HP:0009025)1.57094164
95Hyperbilirubinemia (HP:0002904)1.57012715
96Esophageal varix (HP:0002040)1.55943902
97Hydroxyprolinuria (HP:0003080)1.55069798
98Abnormality of proline metabolism (HP:0010907)1.55069798
99Abnormality of the gallbladder (HP:0005264)1.54598949
100Abnormality of nucleobase metabolism (HP:0010932)1.54426017

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.26188367
2SIK13.69629163
3RIPK13.40790508
4ERN13.00538838
5ICK2.86219733
6TESK12.28148615
7PRPF4B2.19835049
8ARAF2.19726960
9MST1R2.19329510
10EPHA22.12155096
11SMG12.07053161
12IRAK32.02748769
13LATS21.94674333
14FGFR41.94522722
15CAMK1D1.94093666
16EEF2K1.66101919
17NTRK11.58707943
18NME21.56840857
19PDGFRA1.55917601
20PRKD31.54073817
21PIM21.48382287
22PKN21.46672489
23EPHA41.46544973
24LMTK21.46322360
25CAMK1G1.32185587
26DDR21.31583649
27PTK21.30555159
28PDPK11.30285440
29EPHB21.28237357
30PDK21.24180617
31MET1.21162316
32ABL21.19221636
33NTRK31.17849760
34KSR21.14010257
35MAP3K91.11190650
36PAK61.05996684
37MTOR0.99542095
38CAMKK10.99074913
39PAK40.98292462
40TAOK20.97833831
41MAP3K110.96192835
42PRKAA20.93537792
43MAP3K60.93402893
44CDK120.93252363
45TYRO30.92106861
46SCYL20.83249199
47MARK20.81827731
48DAPK20.81739774
49BRAF0.80393220
50TESK20.80109981
51CAMK2G0.79651663
52STK380.77744455
53TTN0.76471918
54PTK60.75954398
55CAMK10.75791120
56RET0.73403890
57LIMK10.73001376
58MAP3K10.70951855
59BMX0.70636586
60CAMK2B0.70542826
61PHKG10.69168140
62PHKG20.69168140
63MAP3K30.68372132
64MAPK120.68292584
65MAPK110.66692761
66MAPKAPK30.66580065
67TGFBR20.66394358
68PDK10.64371554
69PRKG20.58948782
70RPS6KA20.58711700
71PRKAA10.58233243
72AKT20.57393721
73PRKD20.57019487
74TAOK10.56576327
75MAP3K20.55273113
76NEK60.54238448
77MAP2K10.54117159
78SGK4940.54086238
79SGK2230.54086238
80CDK150.54084282
81GRK50.52277460
82SGK30.52263574
83DAPK10.49600981
84DAPK30.49558586
85MARK10.48763040
86CDK11A0.48648631
87MAPK40.47374017
88CDK60.47322449
89CAMKK20.46576521
90CDK180.46380757
91PRKACG0.46166205
92CDC42BPA0.44913939
93MAP2K40.44897800
94UHMK10.44387320
95PAK20.43156408
96MOS0.42801570
97BRSK10.42356839
98GSK3A0.41707748
99EPHB10.40014432
100MAP2K20.39230471

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.50820465
2Complement and coagulation cascades_Homo sapiens_hsa046103.27421705
3Phenylalanine metabolism_Homo sapiens_hsa003602.94869788
4Arginine biosynthesis_Homo sapiens_hsa002202.81555439
5PPAR signaling pathway_Homo sapiens_hsa033202.52127065
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.51995146
7Primary bile acid biosynthesis_Homo sapiens_hsa001202.38862175
8Fatty acid degradation_Homo sapiens_hsa000712.26676397
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.24131043
10Vitamin B6 metabolism_Homo sapiens_hsa007502.21564528
11Tyrosine metabolism_Homo sapiens_hsa003502.20341094
122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.08371919
13Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.01357462
14Histidine metabolism_Homo sapiens_hsa003402.01215380
15Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.00569803
16Fatty acid biosynthesis_Homo sapiens_hsa000611.99376489
17Retinol metabolism_Homo sapiens_hsa008301.92169571
18Bile secretion_Homo sapiens_hsa049761.89893378
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.88071233
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.83563572
21Prion diseases_Homo sapiens_hsa050201.79970564
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.77430406
23Fatty acid metabolism_Homo sapiens_hsa012121.73196672
24Caffeine metabolism_Homo sapiens_hsa002321.72620637
25* Pyruvate metabolism_Homo sapiens_hsa006201.67021122
26Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.67018776
27* Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.59770521
28Pentose and glucuronate interconversions_Homo sapiens_hsa000401.59651418
29Chemical carcinogenesis_Homo sapiens_hsa052041.56364471
30* Biosynthesis of amino acids_Homo sapiens_hsa012301.56322045
31Cyanoamino acid metabolism_Homo sapiens_hsa004601.53143686
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.42887302
33beta-Alanine metabolism_Homo sapiens_hsa004101.39851812
34Sulfur relay system_Homo sapiens_hsa041221.33794664
35* Carbon metabolism_Homo sapiens_hsa012001.33469540
36Tryptophan metabolism_Homo sapiens_hsa003801.30978229
37Drug metabolism - other enzymes_Homo sapiens_hsa009831.29762700
38Arginine and proline metabolism_Homo sapiens_hsa003301.27246024
39Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.15809174
40Fat digestion and absorption_Homo sapiens_hsa049751.09532306
41Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.09398217
42Fatty acid elongation_Homo sapiens_hsa000621.07091721
43Starch and sucrose metabolism_Homo sapiens_hsa005001.02924187
44Other glycan degradation_Homo sapiens_hsa005111.02256948
45Butanoate metabolism_Homo sapiens_hsa006501.02094967
46Glycerolipid metabolism_Homo sapiens_hsa005610.99984883
47Glycosaminoglycan degradation_Homo sapiens_hsa005310.96243339
48Fructose and mannose metabolism_Homo sapiens_hsa000510.95385545
49Pentose phosphate pathway_Homo sapiens_hsa000300.94590145
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.92315570
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92151467
52Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.90746010
53Propanoate metabolism_Homo sapiens_hsa006400.87616334
54AMPK signaling pathway_Homo sapiens_hsa041520.83200732
55Adipocytokine signaling pathway_Homo sapiens_hsa049200.81735806
56Steroid biosynthesis_Homo sapiens_hsa001000.79442879
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.78979953
58Peroxisome_Homo sapiens_hsa041460.78697938
59Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.75610736
60Galactose metabolism_Homo sapiens_hsa000520.75067066
61ABC transporters_Homo sapiens_hsa020100.73015528
62Glucagon signaling pathway_Homo sapiens_hsa049220.61481835
63Insulin signaling pathway_Homo sapiens_hsa049100.59987179
64Lysine degradation_Homo sapiens_hsa003100.54840147
65Synaptic vesicle cycle_Homo sapiens_hsa047210.53155394
66Insulin resistance_Homo sapiens_hsa049310.52748048
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.52001183
68Central carbon metabolism in cancer_Homo sapiens_hsa052300.46816909
69Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46063384
70ECM-receptor interaction_Homo sapiens_hsa045120.45423908
71Sulfur metabolism_Homo sapiens_hsa009200.43007498
72Arachidonic acid metabolism_Homo sapiens_hsa005900.42359839
73Staphylococcus aureus infection_Homo sapiens_hsa051500.42252282
74Linoleic acid metabolism_Homo sapiens_hsa005910.38581126
75Folate biosynthesis_Homo sapiens_hsa007900.37901861
76Thyroid hormone synthesis_Homo sapiens_hsa049180.36854969
77Vitamin digestion and absorption_Homo sapiens_hsa049770.36493261
78Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.31850480
79Amoebiasis_Homo sapiens_hsa051460.30928470
80* Metabolic pathways_Homo sapiens_hsa011000.30639733
81Renin-angiotensin system_Homo sapiens_hsa046140.29209383
82Mineral absorption_Homo sapiens_hsa049780.28007784
83Lysosome_Homo sapiens_hsa041420.25949601
84Long-term potentiation_Homo sapiens_hsa047200.24259336
85Vibrio cholerae infection_Homo sapiens_hsa051100.22992680
86Ovarian steroidogenesis_Homo sapiens_hsa049130.22664998
87Glutathione metabolism_Homo sapiens_hsa004800.22042714
88Pertussis_Homo sapiens_hsa051330.20638025
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.20274958
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.18900400
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.17904936
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.13761192
93Focal adhesion_Homo sapiens_hsa045100.13256144
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.13225110
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.12296125
96Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.11661424
97Estrogen signaling pathway_Homo sapiens_hsa049150.10632835
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.10582681
99Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.10434819
100Protein digestion and absorption_Homo sapiens_hsa049740.10434766

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