C5

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of fibrinolysis (GO:0051918)9.04617729
2regulation of fibrinolysis (GO:0051917)8.61985400
3* regulation of protein activation cascade (GO:2000257)8.61693630
4* regulation of complement activation (GO:0030449)8.18034074
5* complement activation, alternative pathway (GO:0006957)7.70431728
6protein carboxylation (GO:0018214)7.50384068
7peptidyl-glutamic acid carboxylation (GO:0017187)7.50384068
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.09138399
9L-phenylalanine catabolic process (GO:0006559)7.09138399
10blood coagulation, intrinsic pathway (GO:0007597)6.64046458
11L-phenylalanine metabolic process (GO:0006558)6.59247870
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.59247870
13exogenous drug catabolic process (GO:0042738)6.10112018
14very-low-density lipoprotein particle assembly (GO:0034379)6.02243682
15epoxygenase P450 pathway (GO:0019373)5.89872440
16negative regulation of protein activation cascade (GO:2000258)5.88197512
17drug catabolic process (GO:0042737)5.84819650
18fibrinolysis (GO:0042730)5.79443423
19protein-lipid complex remodeling (GO:0034368)5.76286324
20macromolecular complex remodeling (GO:0034367)5.76286324
21plasma lipoprotein particle remodeling (GO:0034369)5.76286324
22triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.71751334
23plasma lipoprotein particle assembly (GO:0034377)5.66580504
24positive regulation of heterotypic cell-cell adhesion (GO:0034116)5.66092207
25regulation of cholesterol esterification (GO:0010872)5.64781080
26low-density lipoprotein particle remodeling (GO:0034374)5.61891097
27omega-hydroxylase P450 pathway (GO:0097267)5.57750675
28cholesterol efflux (GO:0033344)5.57107675
29negative regulation of cholesterol transport (GO:0032375)5.48712427
30negative regulation of sterol transport (GO:0032372)5.48712427
31regulation of plasminogen activation (GO:0010755)5.47046357
32high-density lipoprotein particle remodeling (GO:0034375)5.33980959
33glyoxylate metabolic process (GO:0046487)5.32773303
34regulation of apoptotic cell clearance (GO:2000425)5.30485137
35intestinal cholesterol absorption (GO:0030299)5.21683388
36* protein activation cascade (GO:0072376)5.18412558
37cellular glucuronidation (GO:0052695)5.01410440
38protein-lipid complex assembly (GO:0065005)5.01170008
39urea metabolic process (GO:0019627)5.01012788
40ethanol oxidation (GO:0006069)4.97555343
41aromatic amino acid family catabolic process (GO:0009074)4.93339161
42acute-phase response (GO:0006953)4.93028481
43reverse cholesterol transport (GO:0043691)4.92155502
44* regulation of humoral immune response (GO:0002920)4.90987580
45plasma lipoprotein particle organization (GO:0071827)4.86223333
46negative regulation of blood coagulation (GO:0030195)4.73545413
47negative regulation of hemostasis (GO:1900047)4.73545413
48glucuronate metabolic process (GO:0019585)4.72500010
49uronic acid metabolic process (GO:0006063)4.72500010
50plasma lipoprotein particle clearance (GO:0034381)4.71551684
51phospholipid efflux (GO:0033700)4.70428638
52negative regulation of complement activation (GO:0045916)4.59299954
53protein-lipid complex subunit organization (GO:0071825)4.55415012
54* complement activation, classical pathway (GO:0006958)4.53169609
55nitrogen cycle metabolic process (GO:0071941)4.49062621
56* complement activation (GO:0006956)4.48622119
57positive regulation of blood coagulation (GO:0030194)4.48299690
58positive regulation of hemostasis (GO:1900048)4.48299690
59bile acid metabolic process (GO:0008206)4.41313277
60bile acid biosynthetic process (GO:0006699)4.37725914
61positive regulation of lipoprotein lipase activity (GO:0051006)4.34521356
62positive regulation of triglyceride lipase activity (GO:0061365)4.34521356
63negative regulation of coagulation (GO:0050819)4.32817135
64urea cycle (GO:0000050)4.31678900
65imidazole-containing compound metabolic process (GO:0052803)4.27563212
66triglyceride homeostasis (GO:0070328)4.24986937
67acylglycerol homeostasis (GO:0055090)4.24986937
68negative regulation of wound healing (GO:0061045)4.24497983
69serine family amino acid catabolic process (GO:0009071)4.15970236
70glutamate metabolic process (GO:0006536)4.13568518
71positive regulation of coagulation (GO:0050820)4.11911129
72drug metabolic process (GO:0017144)4.11317301
73regulation of bile acid biosynthetic process (GO:0070857)4.04457192
74negative regulation of lipase activity (GO:0060192)4.04383434
75ethanol metabolic process (GO:0006067)4.03260321
76regulation of triglyceride catabolic process (GO:0010896)3.96910379
77killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.93121800
78disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.93121800
79bile acid and bile salt transport (GO:0015721)3.88246796
80opsonization (GO:0008228)3.87295057
81oxidative demethylation (GO:0070989)3.73645138
82lipoprotein metabolic process (GO:0042157)3.73002094
83glycine metabolic process (GO:0006544)3.72668119
84tyrosine metabolic process (GO:0006570)3.72610765
85polyketide metabolic process (GO:0030638)3.67118898
86doxorubicin metabolic process (GO:0044598)3.67118898
87daunorubicin metabolic process (GO:0044597)3.67118898
88positive regulation of fatty acid biosynthetic process (GO:0045723)3.64274400
89acute inflammatory response (GO:0002526)3.63420780
90cholesterol homeostasis (GO:0042632)3.63064481
91sterol homeostasis (GO:0055092)3.57809693
92negative regulation of humoral immune response (GO:0002921)3.57658322
93* cytolysis (GO:0019835)3.56819644
94sterol transport (GO:0015918)3.54705881
95cholesterol transport (GO:0030301)3.54705881
96phospholipid homeostasis (GO:0055091)3.49843333
97positive regulation of extracellular matrix organization (GO:1903055)3.42375598
98flavonoid metabolic process (GO:0009812)3.32572441
99* regulation of acute inflammatory response (GO:0002673)3.32368190
100alpha-amino acid catabolic process (GO:1901606)3.31101420

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse6.65635501
2EGR1_23403033_ChIP-Seq_LIVER_Mouse5.92936606
3LXR_22158963_ChIP-Seq_LIVER_Mouse5.67470511
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.62536232
5CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.70625871
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.51710214
7NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.12615011
8FOXA2_19822575_ChIP-Seq_HepG2_Human3.83518469
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.74053450
10PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.61332659
11* HNF4A_19822575_ChIP-Seq_HepG2_Human3.00082175
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.77880021
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.13394393
14ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3437026
15ESR1_15608294_ChIP-ChIP_MCF-7_Human1.74767835
16CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.72751896
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.68197349
18TCF4_18268006_ChIP-ChIP_LS174T_Human1.61988786
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59014895
20GATA4_25053715_ChIP-Seq_YYC3_Human1.56492326
21SALL4_18804426_ChIP-ChIP_XEN_Mouse1.50179037
22CLOCK_20551151_ChIP-Seq_293T_Human1.41858029
23HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.33211340
24ESR1_20079471_ChIP-ChIP_T-47D_Human1.32899641
25CDX2_20551321_ChIP-Seq_CACO-2_Human1.30733874
26TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29141173
27FOXO3_23340844_ChIP-Seq_DLD1_Human1.25566922
28ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.22660319
29STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.21464050
30PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.21108121
31FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20740123
32FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.18256642
33BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17686960
34AR_21909140_ChIP-Seq_LNCAP_Human1.14099084
35GATA6_25053715_ChIP-Seq_YYC3_Human1.12209641
36TRIM28_21343339_ChIP-Seq_HEK293_Human1.10524445
37ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.04069526
38HTT_18923047_ChIP-ChIP_STHdh_Human1.01854200
39SOX2_27498859_Chip-Seq_STOMACH_Mouse1.01015130
40AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.98650017
41CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97936425
42FOXA1_25552417_ChIP-Seq_VCAP_Human0.96509519
43SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.94761100
44E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.93628934
45NFE2_27457419_Chip-Seq_LIVER_Mouse0.93536599
46PCGF2_27294783_Chip-Seq_NPCs_Mouse0.91484373
47KAP1_22055183_ChIP-Seq_ESCs_Mouse0.90435262
48ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.88466480
49RARG_19884340_ChIP-ChIP_MEFs_Mouse0.86128313
50RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.85127837
51ESR2_21235772_ChIP-Seq_MCF-7_Human0.83996195
52ZNF263_19887448_ChIP-Seq_K562_Human0.83945154
53RXRA_24833708_ChIP-Seq_LIVER_Mouse0.83443594
54SOX2_20726797_ChIP-Seq_SW620_Human0.82255661
55STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.81892186
56SUZ12_27294783_Chip-Seq_NPCs_Mouse0.81519421
57SMAD1_18555785_Chip-Seq_ESCs_Mouse0.80626090
58HIF1A_21447827_ChIP-Seq_MCF-7_Human0.77971316
59TP53_16413492_ChIP-PET_HCT116_Human0.77625244
60PIAS1_25552417_ChIP-Seq_VCAP_Human0.75464306
61OCT4_18555785_Chip-Seq_ESCs_Mouse0.75288578
62CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.75267106
63EZH2_27294783_Chip-Seq_NPCs_Mouse0.75097910
64SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75068115
65PCGF2_27294783_Chip-Seq_ESCs_Mouse0.72492428
66* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.72474195
67ESRRB_18555785_Chip-Seq_ESCs_Mouse0.70815263
68CEBPB_22108803_ChIP-Seq_LS180_Human0.70784888
69CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.69704127
70RUNX1_27457419_Chip-Seq_LIVER_Mouse0.69492195
71NFIB_24661679_ChIP-Seq_LUNG_Mouse0.68464782
72PPAR_26484153_Chip-Seq_NCI-H1993_Human0.67785317
73IGF1R_20145208_ChIP-Seq_DFB_Human0.66511996
74ZFX_18555785_Chip-Seq_ESCs_Mouse0.66509929
75ZNF217_24962896_ChIP-Seq_MCF-7_Human0.65743815
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.65339681
77PU1_27457419_Chip-Seq_LIVER_Mouse0.64363359
78MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.64324647
79KLF4_18555785_Chip-Seq_ESCs_Mouse0.63957806
80AR_21572438_ChIP-Seq_LNCaP_Human0.63763066
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.62916155
82NRF2_20460467_ChIP-Seq_MEFs_Mouse0.62916155
83TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.62546565
84TP53_18474530_ChIP-ChIP_U2OS_Human0.61896619
85ESR1_21235772_ChIP-Seq_MCF-7_Human0.61497318
86POU5F1_16518401_ChIP-PET_MESCs_Mouse0.61367623
87PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.61122551
88Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.60160960
89CTCF_18555785_Chip-Seq_ESCs_Mouse0.60089068
90FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.58800581
91EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.58251015
92NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.57213532
93NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.56891572
94ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.56818820
95STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.55772760
96NMYC_18555785_Chip-Seq_ESCs_Mouse0.55378854
97CRX_20693478_ChIP-Seq_RETINA_Mouse0.54761270
98EP300_21415370_ChIP-Seq_HL-1_Mouse0.54430213
99PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.54230918
100GATA3_24758297_ChIP-Seq_MCF-7_Human0.53312227

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.77746090
2MP0005365_abnormal_bile_salt5.93327367
3MP0005360_urolithiasis5.77858299
4MP0005085_abnormal_gallbladder_physiolo5.74252916
5MP0003195_calcinosis5.41271194
6MP0008875_abnormal_xenobiotic_pharmacok4.69032567
7MP0003252_abnormal_bile_duct4.20344499
8MP0001666_abnormal_nutrient_absorption3.69840340
9MP0010329_abnormal_lipoprotein_level3.58400453
10MP0002138_abnormal_hepatobiliary_system3.44259850
11MP0003868_abnormal_feces_composition3.23165152
12MP0003122_maternal_imprinting2.55066989
13MP0005332_abnormal_amino_acid2.19399665
14MP0010368_abnormal_lymphatic_system2.19240576
15MP0005408_hypopigmentation1.97063609
16MP0000609_abnormal_liver_physiology1.96361732
17MP0009840_abnormal_foam_cell1.96008910
18MP0003191_abnormal_cellular_cholesterol1.95043967
19MP0009697_abnormal_copulation1.93320139
20MP0002118_abnormal_lipid_homeostasis1.81430268
21MP0001915_intracranial_hemorrhage1.59330464
22MP0000566_synostosis1.46311839
23MP0001661_extended_life_span1.45036328
24MP0002132_abnormal_respiratory_system1.44562956
25MP0002876_abnormal_thyroid_physiology1.36579013
26MP0003806_abnormal_nucleotide_metabolis1.29880307
27MP0001764_abnormal_homeostasis1.29699129
28MP0002089_abnormal_postnatal_growth/wei1.25343522
29MP0005451_abnormal_body_composition1.22802878
30MP0004019_abnormal_vitamin_homeostasis1.21584636
31MP0000598_abnormal_liver_morphology1.19948105
32MP0000604_amyloidosis1.16302020
33MP0005319_abnormal_enzyme/_coenzyme1.06672292
34MP0005058_abnormal_lysosome_morphology1.04545970
35MP0003656_abnormal_erythrocyte_physiolo1.04074271
36MP0003123_paternal_imprinting1.03824787
37MP0005670_abnormal_white_adipose0.96590534
38MP0005464_abnormal_platelet_physiology0.95027496
39MP0005636_abnormal_mineral_homeostasis0.90537975
40MP0006054_spinal_hemorrhage0.90490477
41MP0009642_abnormal_blood_homeostasis0.89869318
42MP0004272_abnormal_basement_membrane0.86931512
43MP0009643_abnormal_urine_homeostasis0.85207685
44MP0005584_abnormal_enzyme/coenzyme_acti0.83279396
45MP0003172_abnormal_lysosome_physiology0.83081045
46MP0003690_abnormal_glial_cell0.80761678
47MP0005084_abnormal_gallbladder_morpholo0.80403998
48MP0005409_darkened_coat_color0.79057160
49MP0002282_abnormal_trachea_morphology0.77869505
50MP0002971_abnormal_brown_adipose0.76195626
51MP0000639_abnormal_adrenal_gland0.75925463
52MP0008469_abnormal_protein_level0.70914140
53MP0005376_homeostasis/metabolism_phenot0.68380464
54MP0005167_abnormal_blood-brain_barrier0.67397652
55MP0002078_abnormal_glucose_homeostasis0.65474132
56MP0009763_increased_sensitivity_to0.65193076
57MP0005164_abnormal_response_to0.63685556
58MP0009780_abnormal_chondrocyte_physiolo0.63052574
59MP0005220_abnormal_exocrine_pancreas0.62886271
60MP0003121_genomic_imprinting0.59794150
61MP0005023_abnormal_wound_healing0.59655836
62MP0003632_abnormal_nervous_system0.58877413
63MP0005395_other_phenotype0.58732688
64MP0009053_abnormal_anal_canal0.54832075
65MP0003879_abnormal_hair_cell0.54416185
66MP0002168_other_aberrant_phenotype0.53438181
67MP0001324_abnormal_eye_pigmentation0.50890108
68MP0003011_delayed_dark_adaptation0.50244539
69MP0000920_abnormal_myelination0.49540250
70MP0005187_abnormal_penis_morphology0.49069913
71MP0009115_abnormal_fat_cell0.48246769
72MP0003890_abnormal_embryonic-extraembry0.48244593
73MP0003950_abnormal_plasma_membrane0.47947875
74MP0004883_abnormal_blood_vessel0.47781396
75MP0003943_abnormal_hepatobiliary_system0.47492281
76MP0002933_joint_inflammation0.44646894
77MP0001756_abnormal_urination0.44529835
78MP0003183_abnormal_peptide_metabolism0.43640807
79MP0003953_abnormal_hormone_level0.42226513
80MP0005448_abnormal_energy_balance0.42202168
81MP0003567_abnormal_fetal_cardiomyocyte0.41787447
82MP0005334_abnormal_fat_pad0.41311197
83MP0005377_hearing/vestibular/ear_phenot0.41166953
84MP0003878_abnormal_ear_physiology0.41166953
85MP0002909_abnormal_adrenal_gland0.41164358
86MP0005257_abnormal_intraocular_pressure0.40712923
87MP0003638_abnormal_response/metabolism_0.40358276
88MP0002128_abnormal_blood_circulation0.39839617
89MP0003633_abnormal_nervous_system0.39675248
90MP0005410_abnormal_fertilization0.38286138
91MP0009384_cardiac_valve_regurgitation0.38045727
92MP0003631_nervous_system_phenotype0.37512623
93MP0003329_amyloid_beta_deposits0.37355817
94MP0000249_abnormal_blood_vessel0.35934153
95MP0005647_abnormal_sex_gland0.35506882
96MP0003115_abnormal_respiratory_system0.35109449
97MP0003941_abnormal_skin_development0.35037152
98MP0004264_abnormal_extraembryonic_tissu0.34491030
99MP0003699_abnormal_female_reproductive0.31220851
100MP0005076_abnormal_cell_differentiation0.30998366

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)9.18392630
2* Complement deficiency (HP:0004431)8.56861376
3Hypobetalipoproteinemia (HP:0003563)7.98327894
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.99613358
5Joint hemorrhage (HP:0005261)6.81875561
6* Abnormality of complement system (HP:0005339)6.55167282
7Abnormality of the common coagulation pathway (HP:0010990)6.42733694
8Abnormality of aromatic amino acid family metabolism (HP:0004338)6.34572173
9Glomerulonephritis (HP:0000099)6.12019720
10Conjugated hyperbilirubinemia (HP:0002908)5.83802960
11Systemic lupus erythematosus (HP:0002725)5.59099030
12Spontaneous abortion (HP:0005268)5.51286146
13Xanthomatosis (HP:0000991)5.07934394
14Hypolipoproteinemia (HP:0010981)4.74366495
15Intrahepatic cholestasis (HP:0001406)4.62328655
16Hypercholesterolemia (HP:0003124)3.94902165
17Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.84617304
18Nephritis (HP:0000123)3.82005182
19Hyperlipoproteinemia (HP:0010980)3.77862794
20Recurrent gram-negative bacterial infections (HP:0005420)3.77333379
21Gingival bleeding (HP:0000225)3.75653532
22Abnormality of the intrinsic pathway (HP:0010989)3.54145407
23Epidermoid cyst (HP:0200040)3.49882713
24Fat malabsorption (HP:0002630)3.48286093
25Menorrhagia (HP:0000132)3.47260955
26Vascular calcification (HP:0004934)3.28411580
27Hemorrhage of the eye (HP:0011885)3.23333547
28Abnormality of pyrimidine metabolism (HP:0004353)3.21689359
29Acanthocytosis (HP:0001927)3.09714221
30Thrombophlebitis (HP:0004418)2.99362499
31Osteomalacia (HP:0002749)2.98949135
32Hypoalphalipoproteinemia (HP:0003233)2.98736612
33Mitral stenosis (HP:0001718)2.95841568
34Purpura (HP:0000979)2.94924701
35Hepatocellular carcinoma (HP:0001402)2.89830773
36Cardiovascular calcification (HP:0011915)2.88637502
37Arthropathy (HP:0003040)2.58906464
38Generalized aminoaciduria (HP:0002909)2.54945389
39Rickets (HP:0002748)2.51879910
40Hyperglycinemia (HP:0002154)2.49667103
41Abnormality of glutamine family amino acid metabolism (HP:0010902)2.48244245
42Abnormal tarsal ossification (HP:0008369)2.48219901
43Hypophosphatemic rickets (HP:0004912)2.43026721
44Abnormality of methionine metabolism (HP:0010901)2.34968093
45Abnormality of carpal bone ossification (HP:0006257)2.28558289
46Myocardial infarction (HP:0001658)2.27406299
47Hyperammonemia (HP:0001987)2.26857965
48Enlarged kidneys (HP:0000105)2.22679765
49Skin nodule (HP:0200036)2.18359041
50Pulmonary embolism (HP:0002204)2.15531182
51Abnormality of serine family amino acid metabolism (HP:0010894)2.12907980
52Abnormality of glycine metabolism (HP:0010895)2.12907980
53Poikilocytosis (HP:0004447)2.10929990
54Potter facies (HP:0002009)2.09801817
55Facial shape deformation (HP:0011334)2.09801817
56Joint swelling (HP:0001386)2.07774494
57Flat acetabular roof (HP:0003180)2.05506295
58Deep venous thrombosis (HP:0002625)11.3787962
59Steatorrhea (HP:0002570)1.98007072
60Increased serum pyruvate (HP:0003542)1.97128257
61Abnormal delivery (HP:0001787)1.95322890
62Hyperglycinuria (HP:0003108)1.94521771
63Epistaxis (HP:0000421)1.92395751
64Abnormality of nucleobase metabolism (HP:0010932)1.89781985
65Small epiphyses (HP:0010585)1.88083340
66Broad alveolar ridges (HP:0000187)1.86304931
67Pancreatic islet-cell hyperplasia (HP:0004510)1.85117913
68Delayed CNS myelination (HP:0002188)1.84324516
69Abnormality of the nasal septum (HP:0000419)1.82618451
70Hyperbilirubinemia (HP:0002904)1.81551596
71Amyloidosis (HP:0011034)1.81233267
72Fair hair (HP:0002286)1.80167667
73Hypoglycemic coma (HP:0001325)1.78209161
74Hydroxyprolinuria (HP:0003080)1.77133953
75Abnormality of proline metabolism (HP:0010907)1.77133953
76Increased serum ferritin (HP:0003281)1.73781543
77Hepatoblastoma (HP:0002884)1.72055402
78Abnormality of the Achilles tendon (HP:0005109)1.70759645
79Abnormality of glycolysis (HP:0004366)1.70224253
80Bifid scrotum (HP:0000048)1.69723338
81Abnormal hand bone ossification (HP:0010660)1.68759406
82Abnormality of the lumbar spine (HP:0100712)1.65727439
83Abnormality of transition element cation homeostasis (HP:0011030)1.65464905
84Abnormality of aspartate family amino acid metabolism (HP:0010899)1.65444989
85Neoplasm of the liver (HP:0002896)1.62839805
86Peritonitis (HP:0002586)1.62644838
87Abnormal ossification of hand bones (HP:0005921)1.61855213
88Abnormality of serum amino acid levels (HP:0003112)1.61366718
89Hyperphosphaturia (HP:0003109)1.58925583
90Scanning speech (HP:0002168)1.58174702
91Abnormality of iron homeostasis (HP:0011031)1.57945891
92Broad palm (HP:0001169)1.57623794
93Abnormal foot bone ossification (HP:0010675)1.55779595
94Esophageal varix (HP:0002040)1.54753663
95Widely patent fontanelles and sutures (HP:0004492)1.54669528
96Elevated alkaline phosphatase (HP:0003155)1.53958487
97Glycosuria (HP:0003076)1.53710435
98Abnormality of urine glucose concentration (HP:0011016)1.53710435
99Gangrene (HP:0100758)1.53659533
100Reduced antithrombin III activity (HP:0001976)1.50120977

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR46.76920861
2FGFR35.04024222
3PIK3CA3.26686015
4ICK3.21661721
5WNK43.04413016
6ERN12.64398209
7CDK122.42113871
8FGFR22.35937220
9RIPK12.21298087
10AKT32.10671150
11TYRO32.09092403
12FGFR12.03104292
13PIK3CG1.99819905
14PDGFRA1.95523365
15LATS11.85379745
16PRKAA21.84331077
17NEK91.70201451
18TRIB31.61169665
19RET1.58887701
20WNK11.53044706
21MAPK111.49940985
22TGFBR21.46186443
23PKN21.43303913
24MAP3K21.34373330
25BRSK21.29989721
26ERBB21.21508610
27EIF2AK11.19697831
28SIK11.17780773
29PDPK11.14062737
30DYRK1B1.13855110
31TYK21.10194562
32PRKACG1.07014502
33SGK2231.02676678
34SGK4941.02676678
35CAMK1D1.02423543
36EPHA30.96737503
37SIK20.94689809
38PDK10.88826242
39NTRK30.87954075
40NLK0.87365135
41DDR20.87257012
42CSNK1E0.85958583
43STK390.85154137
44PRKAA10.84616437
45SGK30.83935493
46BCR0.83680028
47EEF2K0.82135303
48SGK20.80306971
49CSF1R0.80159103
50EPHA40.80066098
51MAP2K40.78917858
52MET0.78431963
53FGR0.78007907
54CAMKK20.77904214
55RPS6KB10.76728417
56IGF1R0.76428123
57MST1R0.75331332
58CAMK1G0.72050173
59FLT30.71080771
60SGK10.67847703
61CDK60.66734900
62CDK70.63954633
63BRD40.61020634
64BRSK10.60357904
65PRKCG0.60271220
66CSNK1D0.60047500
67MAP3K60.58913151
68MAPKAPK30.57604887
69ERBB40.56394713
70PRKCZ0.56209596
71EIF2AK30.53470092
72FER0.52696290
73PRKG10.51764015
74IRAK30.50911208
75CDC42BPA0.48168958
76KSR20.47155720
77PDGFRB0.46953973
78LATS20.46868193
79MAP3K70.45634714
80SCYL20.45490756
81SRC0.43674263
82NEK10.42924101
83MAP2K60.42795892
84MTOR0.42644834
85JAK10.41401231
86BCKDK0.41034053
87RPS6KA30.38480081
88MAP2K30.38384430
89PRKACB0.38010186
90CSNK2A10.36901759
91YES10.36709902
92MATK0.36394873
93CSNK2A20.35931266
94MAP3K50.35544446
95CDK40.35344093
96MELK0.34988390
97GSK3A0.32324635
98STK38L0.31981140
99CDK90.31060720
100EPHA20.30603724

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046105.21215769
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.41390663
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.60626501
4Primary bile acid biosynthesis_Homo sapiens_hsa001203.28726752
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.02983678
6Retinol metabolism_Homo sapiens_hsa008302.91394848
7Pentose and glucuronate interconversions_Homo sapiens_hsa000402.84002922
8Arginine biosynthesis_Homo sapiens_hsa002202.52777352
9Caffeine metabolism_Homo sapiens_hsa002322.52094183
10Chemical carcinogenesis_Homo sapiens_hsa052042.50290498
11Fatty acid degradation_Homo sapiens_hsa000712.48262008
12Steroid hormone biosynthesis_Homo sapiens_hsa001402.45751023
13Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.43785397
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.38435929
15Phenylalanine metabolism_Homo sapiens_hsa003602.23322262
16Drug metabolism - other enzymes_Homo sapiens_hsa009832.22614085
17Histidine metabolism_Homo sapiens_hsa003402.09537594
18Tyrosine metabolism_Homo sapiens_hsa003502.03982999
19Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.92966969
20Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.87573818
21Starch and sucrose metabolism_Homo sapiens_hsa005001.79205036
22Bile secretion_Homo sapiens_hsa049761.78191951
23Butanoate metabolism_Homo sapiens_hsa006501.72203704
24PPAR signaling pathway_Homo sapiens_hsa033201.71493717
25* Staphylococcus aureus infection_Homo sapiens_hsa051501.62568716
26Fat digestion and absorption_Homo sapiens_hsa049751.61176432
27Vitamin B6 metabolism_Homo sapiens_hsa007501.59961970
28Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.58757221
29Tryptophan metabolism_Homo sapiens_hsa003801.52155977
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.49435676
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.36749683
32Cyanoamino acid metabolism_Homo sapiens_hsa004601.29604391
33Fatty acid metabolism_Homo sapiens_hsa012121.28805181
34Peroxisome_Homo sapiens_hsa041461.27525127
35Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.27474752
36Linoleic acid metabolism_Homo sapiens_hsa005911.25098232
37ABC transporters_Homo sapiens_hsa020101.22194386
38Maturity onset diabetes of the young_Homo sapiens_hsa049501.16846769
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.13008525
40Biosynthesis of amino acids_Homo sapiens_hsa012301.06923748
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.04837335
42Propanoate metabolism_Homo sapiens_hsa006401.01740897
43Fatty acid biosynthesis_Homo sapiens_hsa000611.01397284
44beta-Alanine metabolism_Homo sapiens_hsa004101.00749647
45Arginine and proline metabolism_Homo sapiens_hsa003301.00539285
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.97452852
47Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.95820792
48Vitamin digestion and absorption_Homo sapiens_hsa049770.95421093
49Steroid biosynthesis_Homo sapiens_hsa001000.95303898
50Cysteine and methionine metabolism_Homo sapiens_hsa002700.92697756
51Pyruvate metabolism_Homo sapiens_hsa006200.91372121
52* Prion diseases_Homo sapiens_hsa050200.87060382
53Carbon metabolism_Homo sapiens_hsa012000.79363128
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.79025500
55Arachidonic acid metabolism_Homo sapiens_hsa005900.78810515
56One carbon pool by folate_Homo sapiens_hsa006700.76895423
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.66674727
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.64939070
59Glycosaminoglycan degradation_Homo sapiens_hsa005310.60958841
60Lysine degradation_Homo sapiens_hsa003100.59445217
61Other glycan degradation_Homo sapiens_hsa005110.56534592
62Glycerolipid metabolism_Homo sapiens_hsa005610.49831116
63Insulin resistance_Homo sapiens_hsa049310.40753647
64Metabolic pathways_Homo sapiens_hsa011000.40167557
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39969913
66Renin-angiotensin system_Homo sapiens_hsa046140.39446284
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.38785919
68Fructose and mannose metabolism_Homo sapiens_hsa000510.38752505
69Sulfur metabolism_Homo sapiens_hsa009200.36563003
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.34279759
71* Pertussis_Homo sapiens_hsa051330.32523626
72Glucagon signaling pathway_Homo sapiens_hsa049220.31161151
73Galactose metabolism_Homo sapiens_hsa000520.29643503
74N-Glycan biosynthesis_Homo sapiens_hsa005100.28682878
75Sulfur relay system_Homo sapiens_hsa041220.27290321
76Fatty acid elongation_Homo sapiens_hsa000620.27178109
77Nitrogen metabolism_Homo sapiens_hsa009100.20003779
78Thyroid hormone synthesis_Homo sapiens_hsa049180.17804044
79Selenocompound metabolism_Homo sapiens_hsa004500.14772400
80alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.13062637
81Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.12496042
82Mineral absorption_Homo sapiens_hsa049780.10572202
83Pentose phosphate pathway_Homo sapiens_hsa000300.10048104
84AMPK signaling pathway_Homo sapiens_hsa041520.08821808
85Glutathione metabolism_Homo sapiens_hsa004800.07599021
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.06542051
87* Systemic lupus erythematosus_Homo sapiens_hsa053220.03601149
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.02140483
89ECM-receptor interaction_Homo sapiens_hsa045120.01059413
90Amoebiasis_Homo sapiens_hsa051460.00214456
91Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.1560540
92Ether lipid metabolism_Homo sapiens_hsa00565-0.1530047
93Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1215406
94Folate biosynthesis_Homo sapiens_hsa00790-0.1039041
95Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.0713321
96African trypanosomiasis_Homo sapiens_hsa05143-0.0706003
97Circadian rhythm_Homo sapiens_hsa04710-0.0661864
98Insulin signaling pathway_Homo sapiens_hsa04910-0.0362870
99Sphingolipid metabolism_Homo sapiens_hsa00600-0.0088184
100Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0025803

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