ACAA1

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 an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)5.21246729
2exogenous drug catabolic process (GO:0042738)5.13446762
3negative regulation of fibrinolysis (GO:0051918)5.04910704
4complement activation, alternative pathway (GO:0006957)4.99871600
5drug catabolic process (GO:0042737)4.87802785
6regulation of protein activation cascade (GO:2000257)4.79252293
7regulation of fibrinolysis (GO:0051917)4.77101800
8L-phenylalanine catabolic process (GO:0006559)4.63791408
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.63791408
10regulation of complement activation (GO:0030449)4.56371604
11phospholipid efflux (GO:0033700)4.49686948
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.48715118
13regulation of cholesterol esterification (GO:0010872)4.39337619
14erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.37219671
15L-phenylalanine metabolic process (GO:0006558)4.37219671
16glyoxylate metabolic process (GO:0046487)4.36296601
17regulation of triglyceride catabolic process (GO:0010896)4.33775415
18omega-hydroxylase P450 pathway (GO:0097267)4.29406362
19ethanol oxidation (GO:0006069)4.26373013
20positive regulation of lipoprotein lipase activity (GO:0051006)4.22508583
21positive regulation of triglyceride lipase activity (GO:0061365)4.22508583
22protein carboxylation (GO:0018214)4.21366154
23peptidyl-glutamic acid carboxylation (GO:0017187)4.21366154
24negative regulation of cholesterol transport (GO:0032375)4.15081640
25negative regulation of sterol transport (GO:0032372)4.15081640
26urea metabolic process (GO:0019627)4.14128372
27nitrogen cycle metabolic process (GO:0071941)3.93380946
28high-density lipoprotein particle remodeling (GO:0034375)3.91950019
29protein-lipid complex remodeling (GO:0034368)3.85800689
30macromolecular complex remodeling (GO:0034367)3.85800689
31plasma lipoprotein particle remodeling (GO:0034369)3.85800689
32cholesterol efflux (GO:0033344)3.81126980
33plasma lipoprotein particle assembly (GO:0034377)3.76538123
34fibrinolysis (GO:0042730)3.71411947
35very-low-density lipoprotein particle assembly (GO:0034379)3.70953842
36drug metabolic process (GO:0017144)3.68593975
37urea cycle (GO:0000050)3.68389763
38blood coagulation, intrinsic pathway (GO:0007597)3.67005258
39ethanol metabolic process (GO:0006067)3.47667552
40reverse cholesterol transport (GO:0043691)3.47080679
41plasma lipoprotein particle clearance (GO:0034381)3.45830642
42protein-lipid complex assembly (GO:0065005)3.44536788
43acute-phase response (GO:0006953)3.40009106
44protein activation cascade (GO:0072376)3.37938754
45regulation of humoral immune response (GO:0002920)3.34547111
46cellular glucuronidation (GO:0052695)3.31003140
47aromatic amino acid family catabolic process (GO:0009074)3.30756429
48plasma lipoprotein particle organization (GO:0071827)3.29107018
49killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.26091469
50disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.26091469
51positive regulation of fatty acid biosynthetic process (GO:0045723)3.21637236
52low-density lipoprotein particle remodeling (GO:0034374)3.20291960
53complement activation (GO:0006956)3.20249218
54negative regulation of blood coagulation (GO:0030195)3.19307616
55negative regulation of hemostasis (GO:1900047)3.19307616
56bile acid biosynthetic process (GO:0006699)3.17658824
57acylglycerol homeostasis (GO:0055090)3.15471566
58triglyceride homeostasis (GO:0070328)3.15471566
59complement activation, classical pathway (GO:0006958)3.15265228
60glucuronate metabolic process (GO:0019585)3.14887361
61uronic acid metabolic process (GO:0006063)3.14887361
62protein-lipid complex subunit organization (GO:0071825)3.14526357
63regulation of plasminogen activation (GO:0010755)3.14522571
64* bile acid metabolic process (GO:0008206)3.13309745
65bile acid and bile salt transport (GO:0015721)3.12859838
66fat-soluble vitamin biosynthetic process (GO:0042362)3.11638921
67antigen processing and presentation of endogenous antigen (GO:0019883)3.10152523
68positive regulation of lipid catabolic process (GO:0050996)3.05358888
69positive regulation of blood coagulation (GO:0030194)3.04931623
70positive regulation of hemostasis (GO:1900048)3.04931623
71* fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.93193694
72antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.92972114
73negative regulation of protein activation cascade (GO:2000258)2.91031690
74detection of bacterium (GO:0016045)2.86412023
75positive regulation of coagulation (GO:0050820)2.86127089
76negative regulation of coagulation (GO:0050819)2.85939031
77regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.84777041
78negative regulation of lipase activity (GO:0060192)2.83275604
79detection of other organism (GO:0098543)2.80687031
80antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.80211411
81diacylglycerol metabolic process (GO:0046339)2.79935340
82phenylpropanoid metabolic process (GO:0009698)2.76517751
83negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.74803116
84negative regulation of cell killing (GO:0031342)2.74803116
85lipoprotein metabolic process (GO:0042157)2.74379606
86phospholipid homeostasis (GO:0055091)2.73235122
87regulation of cholesterol transport (GO:0032374)2.72739420
88regulation of sterol transport (GO:0032371)2.72739420
89response to mercury ion (GO:0046689)2.71713488
90intestinal cholesterol absorption (GO:0030299)2.71457370
91oxidative demethylation (GO:0070989)2.69176696
92antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.68582153
93acute inflammatory response (GO:0002526)2.67342291
94regulation of apoptotic cell clearance (GO:2000425)2.67157754
95immunoglobulin mediated immune response (GO:0016064)2.67036483
96negative regulation of wound healing (GO:0061045)2.64697749
97positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.63773934
98amino-acid betaine metabolic process (GO:0006577)2.62168116
99alkaloid metabolic process (GO:0009820)2.61406611
100flavonoid metabolic process (GO:0009812)2.59840906

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.28117919
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.30846245
3RXR_22158963_ChIP-Seq_LIVER_Mouse3.66629062
4PPARA_22158963_ChIP-Seq_LIVER_Mouse3.38233708
5* PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.24973942
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.94221139
7EGR1_23403033_ChIP-Seq_LIVER_Mouse2.89410632
8LXR_22158963_ChIP-Seq_LIVER_Mouse2.82332285
9BP1_19119308_ChIP-ChIP_Hs578T_Human2.75699696
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.39787116
11THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.37298822
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.31613793
13NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.25293374
14IRF8_21731497_ChIP-ChIP_J774_Mouse2.18374388
15LXR_22292898_ChIP-Seq_THP-1_Human2.06792483
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.03693034
17RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.02680966
18SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.01158965
19MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.99183410
20VDR_21846776_ChIP-Seq_THP-1_Human1.92575577
21IRF8_27001747_Chip-Seq_BMDM_Mouse1.76589892
22NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.76032464
23RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.74113591
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.71216054
25E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.69389435
26VDR_24763502_ChIP-Seq_THP-1_Human1.66785318
27GATA1_19941827_ChIP-Seq_MEL_Mouse1.55522290
28* SPI1_23127762_ChIP-Seq_K562_Human1.49028960
29RARG_19884340_ChIP-ChIP_MEFs_Mouse1.48123887
30RUNX1_22412390_ChIP-Seq_EML_Mouse1.44373734
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.43620314
32BCL6_27268052_Chip-Seq_Bcells_Human1.43034340
33TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.42598413
34LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.41401604
35BCOR_27268052_Chip-Seq_Bcells_Human1.40927506
36MAF_26560356_Chip-Seq_TH1_Human1.40649926
37GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.40402571
38MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39830100
39LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.38796800
40ELK3_25401928_ChIP-Seq_HUVEC_Human1.38561547
41KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37189497
42MYB_21317192_ChIP-Seq_ERMYB_Mouse1.34907229
43ESR2_21235772_ChIP-Seq_MCF-7_Human1.33831685
44BRD4_27068464_Chip-Seq_AML-cells_Mouse1.32158906
45IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.31802990
46* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.31678304
47STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.31171454
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.31126582
49UTX_26944678_Chip-Seq_JUKART_Human1.29503311
50RUNX_20019798_ChIP-Seq_JUKART_Human1.28667719
51FOXA2_19822575_ChIP-Seq_HepG2_Human1.28105668
52Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.26466811
53SPI1_23547873_ChIP-Seq_NB4_Human1.25444876
54TCF7_22412390_ChIP-Seq_EML_Mouse1.25010357
55SCL_19346495_ChIP-Seq_HPC-7_Human1.24566144
56CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23392824
57P68_20966046_ChIP-Seq_HELA_Human1.23311864
58GATA1_22383799_ChIP-Seq_G1ME_Mouse1.22292681
59ELF1_20517297_ChIP-Seq_JURKAT_Human1.22074701
60CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22030707
61TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21812625
62SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.20836707
63MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.19868850
64RACK7_27058665_Chip-Seq_MCF-7_Human1.19062052
65KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18023537
66CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.16920312
67PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16138203
68GATA1_19941826_ChIP-Seq_K562_Human1.12466613
69TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.12414077
70MYC_22102868_ChIP-Seq_BL_Human1.11461675
71GATA2_22383799_ChIP-Seq_G1ME_Mouse1.10484120
72* SMC4_20622854_ChIP-Seq_HELA_Human1.10037855
73* HNF4A_19822575_ChIP-Seq_HepG2_Human1.09013548
74PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08799597
75KDM2B_26808549_Chip-Seq_DND41_Human1.08032050
76* MAF_26560356_Chip-Seq_TH2_Human1.07669289
77SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06337276
78CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.06283650
79SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.04625111
80SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03595927
81PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02694493
82CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02296103
83SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01910662
84TET1_21451524_ChIP-Seq_MESCs_Mouse1.01718508
85SA1_27219007_Chip-Seq_ERYTHROID_Human1.01700245
86PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.01687305
87TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.01498520
88TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.00981356
89SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00740865
90CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00024397
91DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99975342
92E2F1_20622854_ChIP-Seq_HELA_Human0.98532465
93GATA2_21666600_ChIP-Seq_HMVEC_Human0.98395314
94P300_27268052_Chip-Seq_Bcells_Human0.98233965
95SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97544937
96* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96644880
97HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.96608079
98* SPI1_20517297_ChIP-Seq_HL60_Human0.96323556
99SA1_27219007_Chip-Seq_Bcells_Human0.96011511
100MYB_26560356_Chip-Seq_TH2_Human0.94977958

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.10647135
2MP0005360_urolithiasis4.97037503
3MP0005365_abnormal_bile_salt3.97059730
4MP0005085_abnormal_gallbladder_physiolo3.87391731
5MP0009840_abnormal_foam_cell3.45589334
6MP0008875_abnormal_xenobiotic_pharmacok3.16359897
7MP0003191_abnormal_cellular_cholesterol2.97571140
8MP0002138_abnormal_hepatobiliary_system2.76123200
9MP0003436_decreased_susceptibility_to2.64888336
10MP0003195_calcinosis2.63537880
11MP0005058_abnormal_lysosome_morphology2.53433768
12MP0010329_abnormal_lipoprotein_level2.46632440
13MP0001666_abnormal_nutrient_absorption2.31660568
14MP0003724_increased_susceptibility_to2.31405408
15MP0003303_peritoneal_inflammation2.22276125
16MP0003252_abnormal_bile_duct2.22061123
17MP0005464_abnormal_platelet_physiology2.18527185
18MP0005451_abnormal_body_composition2.11200424
19MP0001835_abnormal_antigen_presentation2.04194023
20MP0009785_altered_susceptibility_to1.97093269
21MP0003172_abnormal_lysosome_physiology1.87353186
22MP0002419_abnormal_innate_immunity1.86993753
23MP0005025_abnormal_response_to1.85347811
24MP0003806_abnormal_nucleotide_metabolis1.76151411
25MP0003868_abnormal_feces_composition1.69243386
26MP0000685_abnormal_immune_system1.68977528
27MP0001790_abnormal_immune_system1.63922163
28MP0005387_immune_system_phenotype1.63922163
29MP0001800_abnormal_humoral_immune1.61908846
30MP0000609_abnormal_liver_physiology1.60690864
31MP0002118_abnormal_lipid_homeostasis1.60641984
32MP0005000_abnormal_immune_tolerance1.59164749
33MP0002132_abnormal_respiratory_system1.58479804
34MP0003183_abnormal_peptide_metabolism1.55909699
35MP0005332_abnormal_amino_acid1.52916998
36MP0002876_abnormal_thyroid_physiology1.50197864
37MP0005671_abnormal_response_to1.49487313
38MP0010155_abnormal_intestine_physiology1.48971551
39MP0006082_CNS_inflammation1.46821555
40MP0008469_abnormal_protein_level1.45197125
41MP0000604_amyloidosis1.43388413
42MP0002148_abnormal_hypersensitivity_rea1.40622048
43MP0002723_abnormal_immune_serum1.39756031
44MP0008260_abnormal_autophagy1.36119184
45MP0003300_gastrointestinal_ulcer1.35325414
46MP0001533_abnormal_skeleton_physiology1.34168855
47MP0009764_decreased_sensitivity_to1.30324644
48MP0002452_abnormal_antigen_presenting1.29788620
49MP0001845_abnormal_inflammatory_respons1.28866972
50MP0003075_altered_response_to1.24371821
51MP0001764_abnormal_homeostasis1.23750563
52MP0002420_abnormal_adaptive_immunity1.22981075
53MP0001819_abnormal_immune_cell1.22426596
54MP0005319_abnormal_enzyme/_coenzyme1.17969511
55MP0009643_abnormal_urine_homeostasis1.16287614
56MP0005584_abnormal_enzyme/coenzyme_acti1.15823300
57MP0004019_abnormal_vitamin_homeostasis1.15495053
58MP0004947_skin_inflammation1.12334878
59MP0009333_abnormal_splenocyte_physiolog1.10241093
60MP0003866_abnormal_defecation1.09270774
61MP0003879_abnormal_hair_cell1.08257553
62MP0003690_abnormal_glial_cell1.06752647
63MP0005670_abnormal_white_adipose1.05120004
64MP0003656_abnormal_erythrocyte_physiolo1.04824224
65MP0000858_altered_metastatic_potential1.04556276
66MP0005166_decreased_susceptibility_to1.03241853
67MP0009763_increased_sensitivity_to1.00468845
68MP0002971_abnormal_brown_adipose0.97827223
69MP0000716_abnormal_immune_system0.92886559
70MP0003329_amyloid_beta_deposits0.91042937
71MP0009642_abnormal_blood_homeostasis0.90526729
72MP0002405_respiratory_system_inflammati0.88404326
73MP0000465_gastrointestinal_hemorrhage0.85079698
74MP0000598_abnormal_liver_morphology0.84202854
75MP0001545_abnormal_hematopoietic_system0.84153499
76MP0005397_hematopoietic_system_phenotyp0.84153499
77MP0000689_abnormal_spleen_morphology0.83418440
78MP0000249_abnormal_blood_vessel0.82873506
79MP0004883_abnormal_blood_vessel0.81183395
80MP0003763_abnormal_thymus_physiology0.80018852
81MP0002398_abnormal_bone_marrow0.79493606
82MP0005535_abnormal_body_temperature0.78754133
83MP0001851_eye_inflammation0.76365784
84MP0002998_abnormal_bone_remodeling0.75557148
85MP0005636_abnormal_mineral_homeostasis0.74151013
86MP0005334_abnormal_fat_pad0.72597736
87MP0005164_abnormal_response_to0.72255068
88MP0002429_abnormal_blood_cell0.72074852
89MP0004130_abnormal_muscle_cell0.71629241
90MP0002722_abnormal_immune_system0.71526035
91MP0005666_abnormal_adipose_tissue0.70912603
92MP0001663_abnormal_digestive_system0.70555629
93MP0005376_homeostasis/metabolism_phenot0.69008871
94MP0005167_abnormal_blood-brain_barrier0.68438930
95MP0004510_myositis0.67895035
96MP0000343_altered_response_to0.67404500
97MP0008874_decreased_physiological_sensi0.67143037
98MP0003828_pulmonary_edema0.64796846
99MP0001853_heart_inflammation0.64756617
100MP0002136_abnormal_kidney_physiology0.63449331

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.31123438
2Abnormality of monocarboxylic acid metabolism (HP:0010996)5.99946005
3Complement deficiency (HP:0004431)5.71799448
4Systemic lupus erythematosus (HP:0002725)5.53478318
5Hypobetalipoproteinemia (HP:0003563)4.85178982
6Abnormality of complement system (HP:0005339)4.84264503
7Prolonged partial thromboplastin time (HP:0003645)4.69399904
8Recurrent gram-negative bacterial infections (HP:0005420)4.66581763
9Abnormality of aromatic amino acid family metabolism (HP:0004338)4.45673423
10Joint hemorrhage (HP:0005261)4.43536679
11Glomerulonephritis (HP:0000099)4.06958468
12Xanthomatosis (HP:0000991)4.01318888
13Hyperlipoproteinemia (HP:0010980)3.83944073
14Eczematoid dermatitis (HP:0000976)3.80525114
15Gingival bleeding (HP:0000225)3.74486582
16Hemorrhage of the eye (HP:0011885)3.58132778
17Purpura (HP:0000979)3.56552100
18Abnormality of the common coagulation pathway (HP:0010990)3.51509292
19Conjugated hyperbilirubinemia (HP:0002908)3.43668153
20Abnormality of macrophages (HP:0004311)3.19609255
21Myositis (HP:0100614)3.13069526
22Orchitis (HP:0100796)3.03281328
23Nephritis (HP:0000123)2.97458392
24Epistaxis (HP:0000421)2.95606160
25Spontaneous abortion (HP:0005268)2.95508395
26Recurrent abscess formation (HP:0002722)2.89345657
27Abnormality of glutamine family amino acid metabolism (HP:0010902)2.87709065
28Amyloidosis (HP:0011034)2.86108001
29Hypolipoproteinemia (HP:0010981)2.85333262
30Optic neuritis (HP:0100653)2.74472487
31Retrobulbar optic neuritis (HP:0100654)2.74472487
32Increased serum ferritin (HP:0003281)2.72106129
33Pulmonary embolism (HP:0002204)2.71925620
34Intrahepatic cholestasis (HP:0001406)2.71798479
35Prolonged bleeding time (HP:0003010)2.70194868
36Abnormality of pyrimidine metabolism (HP:0004353)2.61214719
37Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.59984744
38Menorrhagia (HP:0000132)2.57927833
39Thrombophlebitis (HP:0004418)2.57205584
40Obstructive lung disease (HP:0006536)2.56222568
41Chronic obstructive pulmonary disease (HP:0006510)2.56222568
42Recurrent bacterial skin infections (HP:0005406)2.53913666
43Dysostosis multiplex (HP:0000943)2.52375026
44Meningitis (HP:0001287)2.50911024
45Abnormality of iron homeostasis (HP:0011031)2.48606026
46Fat malabsorption (HP:0002630)2.48117821
47Joint swelling (HP:0001386)2.47973588
48Hyperammonemia (HP:0001987)2.44440207
49Gastrointestinal infarctions (HP:0005244)2.43082262
50Petechiae (HP:0000967)2.39085732
51Abnormality of mucopolysaccharide metabolism (HP:0011020)2.34537937
52Abnormality of polysaccharide metabolism (HP:0011012)2.34537937
53Abnormality of glycosaminoglycan metabolism (HP:0004371)2.34537937
54Myocardial infarction (HP:0001658)2.31382902
55Mitral stenosis (HP:0001718)2.30370153
56Urinary glycosaminoglycan excretion (HP:0003541)2.30180200
57Mucopolysacchariduria (HP:0008155)2.30180200
58Malnutrition (HP:0004395)2.27970782
59Abnormality of transition element cation homeostasis (HP:0011030)2.26522307
60Elevated erythrocyte sedimentation rate (HP:0003565)2.25995195
61Gangrene (HP:0100758)2.25772443
62Vasculitis (HP:0002633)2.21935466
63Vacuolated lymphocytes (HP:0001922)2.19206735
64Hypercholesterolemia (HP:0003124)2.18360735
65Mediastinal lymphadenopathy (HP:0100721)2.16035961
66Gingivitis (HP:0000230)2.11791236
67Abnormality of glycosphingolipid metabolism (HP:0004343)2.11483341
68Abnormality of glycolipid metabolism (HP:0010969)2.11483341
69Abnormality of liposaccharide metabolism (HP:0010968)2.11483341
70Increased cerebral lipofuscin (HP:0011813)2.08903417
71Epidermoid cyst (HP:0200040)2.06124085
72Hypertriglyceridemia (HP:0002155)2.04884890
73Impaired platelet aggregation (HP:0003540)2.04007983
74Abnormal platelet function (HP:0011869)2.04007983
75Vascular calcification (HP:0004934)2.02249778
76Recurrent fungal infections (HP:0002841)1.93744232
77Arterial thrombosis (HP:0004420)1.92676438
78Increased neuronal autofluorescent lipopigment (HP:0002074)1.92553884
79Generalized aminoaciduria (HP:0002909)1.91931461
80Pulmonary infiltrates (HP:0002113)1.90810887
81Polycythemia (HP:0001901)1.90354548
82Rickets (HP:0002748)1.89969560
83Steatorrhea (HP:0002570)1.88515043
84Urticaria (HP:0001025)1.88303231
85Anorexia (HP:0002039)1.86729452
86Hypoalphalipoproteinemia (HP:0003233)1.86497254
87Cellulitis (HP:0100658)1.86260142
88Encephalitis (HP:0002383)1.84950439
89Recurrent skin infections (HP:0001581)1.84030006
90Hypochromic anemia (HP:0001931)1.83840615
91Polygenic inheritance (HP:0010982)1.82413518
92Hemoptysis (HP:0002105)1.80899610
93Keratoconjunctivitis sicca (HP:0001097)1.80554886
94Skin rash (HP:0000988)1.80413261
95Abnormal gallbladder physiology (HP:0012438)1.78625943
96Cholecystitis (HP:0001082)1.78625943
97Spontaneous hematomas (HP:0007420)1.78561942
98Abnormal platelet volume (HP:0011876)1.78125752
99Pancreatitis (HP:0001733)1.76661982
100Abnormal enzyme/coenzyme activity (HP:0012379)1.76587400

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.64145076
2RIPK43.54387580
3MAP4K12.55668197
4TYK22.55168274
5TRIB32.40629532
6FGFR42.34488223
7BLK2.14511821
8MAP2K32.07780017
9PRPF4B2.00649334
10TBK11.87909676
11GRK61.87588534
12MAP3K31.82258161
13MAP3K111.74058575
14IRAK41.73170275
15RIPK11.71468945
16ZAP701.70987012
17TNK21.65755200
18TESK21.65044458
19EPHB11.60237087
20CSK1.58136794
21FES1.53895574
22MAP3K141.48087282
23CSF1R1.45689597
24TAOK11.36914628
25SIK11.33825712
26SYK1.33683557
27BTK1.31220861
28PDPK11.31064507
29MAP3K11.29990571
30SIK21.29434935
31IKBKE1.28945073
32JAK31.25875495
33TXK1.23321534
34PKN21.18791743
35MAP3K131.17704812
36JAK11.17223242
37MATK1.15704921
38PDK11.15605566
39TAOK21.15263749
40EPHA31.12651158
41JAK21.10860912
42IRAK31.10042836
43KIT1.05860503
44FGFR31.05715942
45HCK1.05243956
46FGR1.02502139
47IKBKB1.01327567
48MAPK111.00780573
49PIK3CG1.00173364
50LYN0.99952853
51TAOK30.97203498
52KSR20.92328266
53LCK0.89098398
54ITK0.89076134
55PIM20.88825322
56MAPKAPK30.87679777
57PRKD20.86509191
58PTK60.85956940
59BCKDK0.82436139
60CDC42BPA0.82040896
61RET0.80317782
62DYRK1B0.78054072
63STK380.77704081
64BMPR20.77220622
65ICK0.76649787
66TGFBR20.75168218
67SMG10.72565373
68PRKAA20.71347898
69TESK10.71140782
70MAPK120.68490156
71ARAF0.68392499
72KDR0.67000724
73MAP2K20.66048751
74MARK20.65955013
75PIK3CA0.63106199
76IRAK10.61839071
77MAP3K60.61073169
78MAP2K60.56552608
79SIK30.56032253
80MAP3K20.55907585
81ABL20.52812340
82DAPK20.51583433
83FYN0.51334251
84CAMKK10.50847232
85MARK30.50261829
86CAMKK20.50198431
87HIPK20.49147606
88MYLK0.47959596
89TEC0.47892258
90PRKD10.47664010
91PRKACG0.47616406
92MAP3K50.47285665
93PRKCQ0.44506099
94CDK120.40829121
95PRKCZ0.40802153
96PRKG20.40014201
97MAPK70.40000424
98LRRK20.37474304
99MAP3K70.34555679
100IGF1R0.33208430

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046103.46133960
2Caffeine metabolism_Homo sapiens_hsa002322.98521678
3Primary bile acid biosynthesis_Homo sapiens_hsa001202.93477172
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.92900077
5Staphylococcus aureus infection_Homo sapiens_hsa051502.80984181
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.57697756
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.47680445
8Retinol metabolism_Homo sapiens_hsa008302.44917803
9Chemical carcinogenesis_Homo sapiens_hsa052042.25411121
10Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.22258496
11Phenylalanine metabolism_Homo sapiens_hsa003602.12863093
12Drug metabolism - other enzymes_Homo sapiens_hsa009832.08716100
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.04361558
14Arginine biosynthesis_Homo sapiens_hsa002202.01926442
15* Fatty acid degradation_Homo sapiens_hsa000712.01019413
16Histidine metabolism_Homo sapiens_hsa003401.92367032
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.91916844
18Cyanoamino acid metabolism_Homo sapiens_hsa004601.80886181
19* PPAR signaling pathway_Homo sapiens_hsa033201.78319817
20Other glycan degradation_Homo sapiens_hsa005111.75769248
21Tyrosine metabolism_Homo sapiens_hsa003501.72122365
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.71827704
23Bile secretion_Homo sapiens_hsa049761.48165219
24Fat digestion and absorption_Homo sapiens_hsa049751.47762735
25Tryptophan metabolism_Homo sapiens_hsa003801.44054168
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.41560212
27Starch and sucrose metabolism_Homo sapiens_hsa005001.37328749
28Linoleic acid metabolism_Homo sapiens_hsa005911.37295440
29Butanoate metabolism_Homo sapiens_hsa006501.35916612
30Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.34770495
31Allograft rejection_Homo sapiens_hsa053301.28687087
32Graft-versus-host disease_Homo sapiens_hsa053321.22408748
33Leishmaniasis_Homo sapiens_hsa051401.21220588
34Arachidonic acid metabolism_Homo sapiens_hsa005901.21159625
35Autoimmune thyroid disease_Homo sapiens_hsa053201.17167051
36Glycosaminoglycan degradation_Homo sapiens_hsa005311.11958348
37* Peroxisome_Homo sapiens_hsa041461.09228339
38Asthma_Homo sapiens_hsa053101.06027320
392-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.02584494
40beta-Alanine metabolism_Homo sapiens_hsa004100.92582619
41Pertussis_Homo sapiens_hsa051330.91765591
42Prion diseases_Homo sapiens_hsa050200.91181595
43Osteoclast differentiation_Homo sapiens_hsa043800.90534209
44Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.89148706
45Fructose and mannose metabolism_Homo sapiens_hsa000510.86685733
46* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.85922450
47Intestinal immune network for IgA production_Homo sapiens_hsa046720.83991472
48Arginine and proline metabolism_Homo sapiens_hsa003300.80570490
49ABC transporters_Homo sapiens_hsa020100.79940801
50Vitamin digestion and absorption_Homo sapiens_hsa049770.79764971
51* Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.79506706
52B cell receptor signaling pathway_Homo sapiens_hsa046620.75671925
53Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.74177554
54* Fatty acid metabolism_Homo sapiens_hsa012120.73895302
55Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.72489583
56Type I diabetes mellitus_Homo sapiens_hsa049400.71859486
57Sulfur metabolism_Homo sapiens_hsa009200.71650952
58Tuberculosis_Homo sapiens_hsa051520.69175252
59Lysosome_Homo sapiens_hsa041420.67243686
60Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.64767944
61Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.64532214
62Adipocytokine signaling pathway_Homo sapiens_hsa049200.63968364
63Carbon metabolism_Homo sapiens_hsa012000.63230380
64Glycerolipid metabolism_Homo sapiens_hsa005610.62937801
65Galactose metabolism_Homo sapiens_hsa000520.62141711
66Biosynthesis of amino acids_Homo sapiens_hsa012300.60621073
67Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60382767
68Antigen processing and presentation_Homo sapiens_hsa046120.59746339
69Renin-angiotensin system_Homo sapiens_hsa046140.58972518
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58914512
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58811018
72Primary immunodeficiency_Homo sapiens_hsa053400.55944256
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.53951346
74Insulin resistance_Homo sapiens_hsa049310.53863745
75Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.53555371
76Hematopoietic cell lineage_Homo sapiens_hsa046400.52149795
77Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50278924
78Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49869893
79Toxoplasmosis_Homo sapiens_hsa051450.47667744
80Pyruvate metabolism_Homo sapiens_hsa006200.47379960
81Phagosome_Homo sapiens_hsa041450.46321505
82Viral myocarditis_Homo sapiens_hsa054160.44721646
83Acute myeloid leukemia_Homo sapiens_hsa052210.42412565
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42152778
85NF-kappa B signaling pathway_Homo sapiens_hsa040640.41598123
86Sulfur relay system_Homo sapiens_hsa041220.41553771
87Glycerophospholipid metabolism_Homo sapiens_hsa005640.39909762
88Influenza A_Homo sapiens_hsa051640.39669380
89Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.39120026
90Pentose phosphate pathway_Homo sapiens_hsa000300.37953510
91African trypanosomiasis_Homo sapiens_hsa051430.36833455
92Fatty acid elongation_Homo sapiens_hsa000620.36205053
93Hepatitis C_Homo sapiens_hsa051600.34412677
94Rheumatoid arthritis_Homo sapiens_hsa053230.34066351
95Mineral absorption_Homo sapiens_hsa049780.31268007
96RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.29900740
97* alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28505914
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.28496252
99TNF signaling pathway_Homo sapiens_hsa046680.28004714
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.27485495

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