C4A

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 the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. 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
1* regulation of protein activation cascade (GO:2000257)8.27847421
2complement activation, alternative pathway (GO:0006957)8.22203091
3* regulation of complement activation (GO:0030449)8.03057058
4negative regulation of fibrinolysis (GO:0051918)7.85143424
5regulation of fibrinolysis (GO:0051917)7.56440250
6protein carboxylation (GO:0018214)6.77454933
7peptidyl-glutamic acid carboxylation (GO:0017187)6.77454933
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.29255238
9L-phenylalanine catabolic process (GO:0006559)6.29255238
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.89410469
11L-phenylalanine metabolic process (GO:0006558)5.89410469
12blood coagulation, intrinsic pathway (GO:0007597)5.82128382
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.70431509
14epoxygenase P450 pathway (GO:0019373)5.57426545
15exogenous drug catabolic process (GO:0042738)5.47504599
16regulation of cholesterol esterification (GO:0010872)5.38628757
17negative regulation of sterol transport (GO:0032372)5.37023033
18negative regulation of cholesterol transport (GO:0032375)5.37023033
19fibrinolysis (GO:0042730)5.36586032
20* protein activation cascade (GO:0072376)5.29415456
21protein-lipid complex remodeling (GO:0034368)5.29267602
22macromolecular complex remodeling (GO:0034367)5.29267602
23plasma lipoprotein particle remodeling (GO:0034369)5.29267602
24regulation of plasminogen activation (GO:0010755)5.28431931
25very-low-density lipoprotein particle assembly (GO:0034379)5.26291728
26* regulation of apoptotic cell clearance (GO:2000425)5.24772297
27drug catabolic process (GO:0042737)5.23387867
28* complement activation, classical pathway (GO:0006958)5.22854679
29negative regulation of protein activation cascade (GO:2000258)5.21507401
30ethanol oxidation (GO:0006069)5.17620335
31omega-hydroxylase P450 pathway (GO:0097267)5.09252179
32cholesterol efflux (GO:0033344)5.08169270
33* complement activation (GO:0006956)4.97037030
34plasma lipoprotein particle assembly (GO:0034377)4.92106297
35high-density lipoprotein particle remodeling (GO:0034375)4.90362344
36glyoxylate metabolic process (GO:0046487)4.88749869
37intestinal cholesterol absorption (GO:0030299)4.85783465
38low-density lipoprotein particle remodeling (GO:0034374)4.81733832
39acute-phase response (GO:0006953)4.80645672
40* regulation of humoral immune response (GO:0002920)4.79259562
41phospholipid efflux (GO:0033700)4.78122970
42urea metabolic process (GO:0019627)4.72404836
43reverse cholesterol transport (GO:0043691)4.62494947
44opsonization (GO:0008228)4.61223226
45plasma lipoprotein particle organization (GO:0071827)4.45905652
46protein-lipid complex assembly (GO:0065005)4.44648104
47negative regulation of hemostasis (GO:1900047)4.41530682
48negative regulation of blood coagulation (GO:0030195)4.41530682
49plasma lipoprotein particle clearance (GO:0034381)4.38528500
50positive regulation of lipoprotein lipase activity (GO:0051006)4.37180481
51positive regulation of triglyceride lipase activity (GO:0061365)4.37180481
52positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.28267806
53nitrogen cycle metabolic process (GO:0071941)4.27631438
54negative regulation of complement activation (GO:0045916)4.26964032
55ethanol metabolic process (GO:0006067)4.23411628
56protein-lipid complex subunit organization (GO:0071825)4.22819404
57urea cycle (GO:0000050)4.21529389
58aromatic amino acid family catabolic process (GO:0009074)4.19819142
59positive regulation of blood coagulation (GO:0030194)4.09723401
60positive regulation of hemostasis (GO:1900048)4.09723401
61cellular glucuronidation (GO:0052695)4.02810334
62negative regulation of coagulation (GO:0050819)4.02162504
63triglyceride homeostasis (GO:0070328)4.02089434
64acylglycerol homeostasis (GO:0055090)4.02089434
65glutamate metabolic process (GO:0006536)3.96423087
66negative regulation of wound healing (GO:0061045)3.93209527
67negative regulation of lipase activity (GO:0060192)3.88321565
68positive regulation of fatty acid biosynthetic process (GO:0045723)3.85841582
69serine family amino acid catabolic process (GO:0009071)3.84645517
70imidazole-containing compound metabolic process (GO:0052803)3.80115979
71regulation of triglyceride catabolic process (GO:0010896)3.79288610
72regulation of cholesterol biosynthetic process (GO:0045540)3.79229329
73cytolysis (GO:0019835)3.78448643
74bile acid metabolic process (GO:0008206)3.78257616
75uronic acid metabolic process (GO:0006063)3.76988340
76glucuronate metabolic process (GO:0019585)3.76988340
77bile acid biosynthetic process (GO:0006699)3.75527357
78positive regulation of coagulation (GO:0050820)3.75510895
79drug metabolic process (GO:0017144)3.75028370
80lipoprotein metabolic process (GO:0042157)3.62479815
81acute inflammatory response (GO:0002526)3.51649866
82regulation of cholesterol homeostasis (GO:2000188)3.44068184
83response to mercury ion (GO:0046689)3.37175204
84negative regulation of humoral immune response (GO:0002921)3.35555755
85cholesterol transport (GO:0030301)3.34760708
86sterol transport (GO:0015918)3.34760708
87positive regulation of steroid metabolic process (GO:0045940)3.33968977
88regulation of cholesterol metabolic process (GO:0090181)3.33717881
89cholesterol homeostasis (GO:0042632)3.32456874
90tyrosine metabolic process (GO:0006570)3.32259444
91regulation of bile acid biosynthetic process (GO:0070857)3.31947092
92phospholipid homeostasis (GO:0055091)3.29416009
93positive regulation of extracellular matrix organization (GO:1903055)3.28486257
94negative regulation of lipid transport (GO:0032369)3.27565579
95sterol homeostasis (GO:0055092)3.27240565
96* regulation of acute inflammatory response (GO:0002673)3.24404495
97regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.23715385
98proline metabolic process (GO:0006560)3.19582999
99killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.18379368
100disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.18379368

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.29280672
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.70211302
3PPARA_22158963_ChIP-Seq_LIVER_Mouse4.80333938
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.74738953
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.34429879
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.24453566
7* EGR1_23403033_ChIP-Seq_LIVER_Mouse4.17824178
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.67590402
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.16499834
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.05253455
11FOXA2_19822575_ChIP-Seq_HepG2_Human3.03353296
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.47952558
13HNF4A_19822575_ChIP-Seq_HepG2_Human2.22961706
14CLOCK_20551151_ChIP-Seq_293T_Human2.18280608
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.18172937
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.07202215
17ESR2_21235772_ChIP-Seq_MCF-7_Human1.97249987
18TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.83556233
19TP63_17297297_ChIP-ChIP_HaCaT_Human1.82446071
20ESR1_15608294_ChIP-ChIP_MCF-7_Human1.80586044
21HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.67092931
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.59604412
23LXR_22292898_ChIP-Seq_THP-1_Human1.56465490
24* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.53510659
25ESR1_21235772_ChIP-Seq_MCF-7_Human1.42170928
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.40364167
27CDX2_20551321_ChIP-Seq_CACO-2_Human1.40155014
28ESR1_20079471_ChIP-ChIP_T-47D_Human1.33628325
29CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.31471854
30NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.29785637
31ZNF263_19887448_ChIP-Seq_K562_Human1.23541966
32BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.22828081
33SOX2_27498859_Chip-Seq_STOMACH_Mouse1.22782437
34NFIB_24661679_ChIP-Seq_LUNG_Mouse1.21436410
35NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.20410497
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20325596
37RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.16319945
38STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.14927842
39GATA4_25053715_ChIP-Seq_YYC3_Human1.12239335
40ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.11036462
41EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10929463
42SALL4_18804426_ChIP-ChIP_XEN_Mouse1.10284146
43FOXO3_23340844_ChIP-Seq_DLD1_Human1.06862163
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.03378779
45CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.03016312
46TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.02382677
47PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01353732
48CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00810471
49DROSHA_22980978_ChIP-Seq_HELA_Human0.96834439
50DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96410933
51TCF4_18268006_ChIP-ChIP_LS174T_Human0.95663136
52CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95614483
53SMC4_20622854_ChIP-Seq_HELA_Human0.93248949
54GATA6_25053715_ChIP-Seq_YYC3_Human0.90579039
55RACK7_27058665_Chip-Seq_MCF-7_Human0.89735564
56SOX2_20726797_ChIP-Seq_SW620_Human0.88950285
57SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88817210
58FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88576914
59PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88556899
60SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.88156174
61FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.87456249
62ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86964575
63RXRA_24833708_ChIP-Seq_LIVER_Mouse0.86163460
64SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85804055
65SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.85357030
66SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.85042407
67HIF1A_21447827_ChIP-Seq_MCF-7_Human0.84493285
68TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83918467
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.83586699
70TBX20_22328084_ChIP-Seq_HEART_Mouse0.81191791
71TBX20_22080862_ChIP-Seq_HEART_Mouse0.81191791
72PPAR_26484153_Chip-Seq_NCI-H1993_Human0.80228515
73AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.76661225
74SOX9_24532713_ChIP-Seq_HFSC_Mouse0.76651412
75POU5F1_16518401_ChIP-PET_MESCs_Mouse0.75899925
76GATA1_19941827_ChIP-Seq_MEL_Mouse0.75673963
77ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.75393322
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.75334831
79EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.75194814
80GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75188816
81STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.74937487
82KDM2B_26808549_Chip-Seq_K562_Human0.74876092
83RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74872098
84ZNF217_24962896_ChIP-Seq_MCF-7_Human0.74580282
85IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.69784153
86NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.67957280
87FOXA1_25552417_ChIP-Seq_VCAP_Human0.67490148
88GATA2_21666600_ChIP-Seq_HMVEC_Human0.67384987
89CTCF_27219007_Chip-Seq_Bcells_Human0.66541061
90RUNX1_27514584_Chip-Seq_MCF-7_Human0.66492947
91WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.66398269
92P63_26484246_Chip-Seq_KERATINOCYTES_Human0.63927603
93ZFP281_18757296_ChIP-ChIP_E14_Mouse0.61675934
94MYC_19915707_ChIP-ChIP_AK7_Human0.61579226
95MYC_27129775_Chip-Seq_CORNEA_Mouse0.59771934
96Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.59543671
97RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.58346657
98EP300_21415370_ChIP-Seq_HL-1_Mouse0.57466074
99JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.56595722
100RARA_24833708_ChIP-Seq_LIVER_Mouse0.56215399

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.05322737
2MP0005360_urolithiasis5.92501760
3MP0005365_abnormal_bile_salt5.59128881
4MP0005085_abnormal_gallbladder_physiolo5.01759436
5MP0003195_calcinosis5.01074887
6MP0008875_abnormal_xenobiotic_pharmacok4.42243873
7MP0001666_abnormal_nutrient_absorption3.61420480
8MP0010329_abnormal_lipoprotein_level3.49106421
9MP0003252_abnormal_bile_duct3.32977735
10MP0009840_abnormal_foam_cell2.79474119
11MP0003868_abnormal_feces_composition2.76486604
12MP0002138_abnormal_hepatobiliary_system2.73886837
13MP0010368_abnormal_lymphatic_system2.41166448
14MP0003191_abnormal_cellular_cholesterol2.36826669
15MP0005332_abnormal_amino_acid2.14800950
16MP0000609_abnormal_liver_physiology1.93834411
17MP0002118_abnormal_lipid_homeostasis1.88916360
18MP0003122_maternal_imprinting1.81721990
19MP0005670_abnormal_white_adipose1.75663312
20MP0005058_abnormal_lysosome_morphology1.61114324
21MP0000566_synostosis1.59997669
22MP0003690_abnormal_glial_cell1.47823056
23MP0001915_intracranial_hemorrhage1.47276824
24MP0001661_extended_life_span1.45545605
25MP0000604_amyloidosis1.43878775
26MP0004019_abnormal_vitamin_homeostasis1.43254076
27MP0002876_abnormal_thyroid_physiology1.38822453
28MP0005451_abnormal_body_composition1.37454089
29MP0005408_hypopigmentation1.33808671
30MP0003879_abnormal_hair_cell1.21763887
31MP0002971_abnormal_brown_adipose1.20890809
32MP0002132_abnormal_respiratory_system1.19210545
33MP0005409_darkened_coat_color1.14012867
34MP0002089_abnormal_postnatal_growth/wei1.13529526
35MP0003329_amyloid_beta_deposits1.13059851
36MP0009780_abnormal_chondrocyte_physiolo1.09851908
37MP0005167_abnormal_blood-brain_barrier1.08567265
38MP0000598_abnormal_liver_morphology1.06317484
39MP0009643_abnormal_urine_homeostasis1.06160215
40MP0003172_abnormal_lysosome_physiology1.06116216
41MP0004272_abnormal_basement_membrane1.04138554
42MP0002909_abnormal_adrenal_gland1.02930760
43MP0005319_abnormal_enzyme/_coenzyme1.02553692
44MP0000639_abnormal_adrenal_gland1.00906500
45MP0001764_abnormal_homeostasis0.99358216
46MP0005636_abnormal_mineral_homeostasis0.95761022
47MP0005023_abnormal_wound_healing0.95690425
48MP0005584_abnormal_enzyme/coenzyme_acti0.92350659
49MP0009697_abnormal_copulation0.90719458
50MP0008438_abnormal_cutaneous_collagen0.89005936
51MP0003011_delayed_dark_adaptation0.88496824
52MP0009642_abnormal_blood_homeostasis0.87458946
53MP0000920_abnormal_myelination0.86519489
54MP0000678_abnormal_parathyroid_gland0.83961704
55MP0003566_abnormal_cell_adhesion0.80862615
56MP0003656_abnormal_erythrocyte_physiolo0.79044640
57MP0002249_abnormal_larynx_morphology0.78502817
58MP0002933_joint_inflammation0.76295226
59MP0003075_altered_response_to0.74193422
60MP0005164_abnormal_response_to0.72698529
61MP0002168_other_aberrant_phenotype0.72630227
62MP0000249_abnormal_blood_vessel0.71802871
63MP0002078_abnormal_glucose_homeostasis0.71516973
64MP0005464_abnormal_platelet_physiology0.70630706
65MP0009115_abnormal_fat_cell0.68440700
66MP0009763_increased_sensitivity_to0.67040225
67MP0008469_abnormal_protein_level0.65801944
68MP0004883_abnormal_blood_vessel0.65452456
69MP0003806_abnormal_nucleotide_metabolis0.64950868
70MP0005257_abnormal_intraocular_pressure0.64836513
71MP0005448_abnormal_energy_balance0.64009760
72MP0003705_abnormal_hypodermis_morpholog0.63836102
73MP0003183_abnormal_peptide_metabolism0.63226771
74MP0003123_paternal_imprinting0.62959987
75MP0003632_abnormal_nervous_system0.62530946
76MP0001756_abnormal_urination0.60341207
77MP0002282_abnormal_trachea_morphology0.58300455
78MP0005334_abnormal_fat_pad0.56743401
79MP0004264_abnormal_extraembryonic_tissu0.55901901
80MP0005666_abnormal_adipose_tissue0.55741051
81MP0005376_homeostasis/metabolism_phenot0.55273902
82MP0000003_abnormal_adipose_tissue0.53907384
83MP0005076_abnormal_cell_differentiation0.51370520
84MP0005395_other_phenotype0.50399017
85MP0003953_abnormal_hormone_level0.50263337
86MP0004782_abnormal_surfactant_physiolog0.49029675
87MP0003633_abnormal_nervous_system0.48918584
88MP0005166_decreased_susceptibility_to0.47739056
89MP0005375_adipose_tissue_phenotype0.47335884
90MP0003878_abnormal_ear_physiology0.46838046
91MP0005377_hearing/vestibular/ear_phenot0.46838046
92MP0002896_abnormal_bone_mineralization0.46646304
93MP0002136_abnormal_kidney_physiology0.46266508
94MP0003638_abnormal_response/metabolism_0.44667278
95MP0009384_cardiac_valve_regurgitation0.44207516
96MP0003631_nervous_system_phenotype0.43667474
97MP0003300_gastrointestinal_ulcer0.42642922
98MP0002970_abnormal_white_adipose0.42481951
99MP0005220_abnormal_exocrine_pancreas0.41855274
100MP0003950_abnormal_plasma_membrane0.41028725

Predicted human phenotypes

RankGene SetZ-score
1* Complement deficiency (HP:0004431)9.44468021
2Prolonged partial thromboplastin time (HP:0003645)8.00008942
3* Abnormality of complement system (HP:0005339)7.49061733
4Abnormality of monocarboxylic acid metabolism (HP:0010996)7.08393151
5Joint hemorrhage (HP:0005261)6.69424197
6Hypobetalipoproteinemia (HP:0003563)6.54389722
7Abnormality of aromatic amino acid family metabolism (HP:0004338)6.25361711
8* Systemic lupus erythematosus (HP:0002725)5.66576632
9* Glomerulonephritis (HP:0000099)5.50147333
10Xanthomatosis (HP:0000991)5.32095457
11Abnormality of the common coagulation pathway (HP:0010990)5.24311740
12Conjugated hyperbilirubinemia (HP:0002908)4.89527101
13Spontaneous abortion (HP:0005268)4.52719320
14Hypolipoproteinemia (HP:0010981)4.18915091
15Hyperlipoproteinemia (HP:0010980)4.13953389
16Intrahepatic cholestasis (HP:0001406)4.05639059
17Recurrent gram-negative bacterial infections (HP:0005420)3.98193497
18Hypercholesterolemia (HP:0003124)3.88644121
19Hemorrhage of the eye (HP:0011885)3.85146803
20* Nephritis (HP:0000123)3.74560734
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.44131895
22Menorrhagia (HP:0000132)3.34856391
23Mitral stenosis (HP:0001718)3.32271572
24Abnormality of the intrinsic pathway (HP:0010989)3.31242499
25Hypoalphalipoproteinemia (HP:0003233)3.26230660
26Gingival bleeding (HP:0000225)3.24722973
27Fat malabsorption (HP:0002630)3.06976276
28Vascular calcification (HP:0004934)3.05779603
29Epidermoid cyst (HP:0200040)3.02625268
30Abnormality of glutamine family amino acid metabolism (HP:0010902)2.80422385
31Cardiovascular calcification (HP:0011915)2.73945436
32Abnormality of pyrimidine metabolism (HP:0004353)2.64760132
33Myocardial infarction (HP:0001658)2.63488638
34Hepatocellular carcinoma (HP:0001402)2.47822869
35Rickets (HP:0002748)2.46980070
36Skin nodule (HP:0200036)2.37886103
37* Thrombophlebitis (HP:0004418)2.26084636
38Acanthocytosis (HP:0001927)2.21962605
39Abnormality of carpal bone ossification (HP:0006257)2.18627211
40* Purpura (HP:0000979)2.16815374
41Osteomalacia (HP:0002749)2.15048336
42Facial shape deformation (HP:0011334)2.11310064
43Potter facies (HP:0002009)2.11310064
44Amyloidosis (HP:0011034)2.07633424
45Hyperammonemia (HP:0001987)2.06983249
46Hypophosphatemic rickets (HP:0004912)2.06210037
47Abnormal tarsal ossification (HP:0008369)2.01788179
48Steatorrhea (HP:0002570)2.00414685
49Deep venous thrombosis (HP:0002625)10.3230278
50Hydroxyprolinuria (HP:0003080)1.99429380
51Abnormality of proline metabolism (HP:0010907)1.99429380
52Arthropathy (HP:0003040)1.98562874
53Protrusio acetabuli (HP:0003179)1.97453204
54Abnormality of serine family amino acid metabolism (HP:0010894)1.97058199
55Abnormality of glycine metabolism (HP:0010895)1.97058199
56Abnormality of methionine metabolism (HP:0010901)1.96096137
57Hyperglycinemia (HP:0002154)1.90475583
58Delayed CNS myelination (HP:0002188)1.89184838
59Abnormal delivery (HP:0001787)1.88898012
60Abnormality of the Achilles tendon (HP:0005109)1.88211536
61Flat acetabular roof (HP:0003180)1.86497774
62Joint swelling (HP:0001386)1.86096425
63Epistaxis (HP:0000421)1.83928947
64Hyperglycinuria (HP:0003108)1.83381459
65Bifid scrotum (HP:0000048)1.81965807
66Abnormality of nucleobase metabolism (HP:0010932)1.81165323
67Esophageal varix (HP:0002040)1.73926595
68Small epiphyses (HP:0010585)1.73872716
69Enlarged kidneys (HP:0000105)1.72600892
70Abnormal ossification of hand bones (HP:0005921)1.69943176
71Poikilocytosis (HP:0004447)1.69334508
72Generalized aminoaciduria (HP:0002909)1.68294252
73Abnormal hand bone ossification (HP:0010660)1.66985496
74Asymmetry of the thorax (HP:0001555)1.66212878
75Gout (HP:0001997)1.65811726
76Peritonitis (HP:0002586)1.64531425
77* Pulmonary embolism (HP:0002204)1.61676865
78Neurofibrillary tangles (HP:0002185)1.59516501
79Urinary glycosaminoglycan excretion (HP:0003541)1.59096291
80Mucopolysacchariduria (HP:0008155)1.59096291
81Alacrima (HP:0000522)1.58205904
82Abnormal gallbladder physiology (HP:0012438)1.56632334
83Cholecystitis (HP:0001082)1.56632334
84Cerebral aneurysm (HP:0004944)1.55732743
85Increased serum ferritin (HP:0003281)1.54604505
86Widely patent fontanelles and sutures (HP:0004492)1.54553091
87Hyperbilirubinemia (HP:0002904)1.53812509
88Bronchomalacia (HP:0002780)1.51332541
89Hypertriglyceridemia (HP:0002155)1.50645713
90Back pain (HP:0003418)1.49818171
91Elevated alkaline phosphatase (HP:0003155)1.48902240
92Pigmentary retinal degeneration (HP:0001146)1.48474243
93Increased serum pyruvate (HP:0003542)1.47254772
94Abnormality of iron homeostasis (HP:0011031)1.46368981
95Hypophosphatemia (HP:0002148)1.45513648
96Abnormality of purine metabolism (HP:0004352)1.42851035
97Neonatal onset (HP:0003623)1.42600066
98Hypoglycemic coma (HP:0001325)1.41774913
99Abnormal enzyme/coenzyme activity (HP:0012379)1.41662677
100Abnormality of sulfur amino acid metabolism (HP:0004339)1.41407908

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR45.98017356
2ERN14.03009583
3RIPK13.63137613
4FGFR33.63133864
5TRIB33.28315619
6ICK3.09565163
7SIK12.91235932
8PDGFRA2.34455113
9EPHA32.03898266
10AKT31.98798284
11WNK41.83004233
12CDK121.81153366
13MST1R1.76556486
14PIK3CA1.74604827
15PKN21.64301009
16DDR21.61852306
17TYRO31.61203407
18FGFR21.56279209
19RET1.51341406
20PRKAA21.50704447
21NTRK31.44885700
22EPHB11.33874681
23TYK21.30982821
24PDPK11.28987451
25TGFBR21.25313724
26EEF2K1.24394014
27ERBB21.23077800
28MET1.20013873
29JAK11.14944887
30EPHA21.13685841
31MAP3K21.10628777
32MAPK111.07914703
33FGFR11.07867493
34MAP3K31.05161186
35SGK4941.04782848
36SGK2231.04782848
37DYRK1B1.00924327
38CDC42BPA0.97795343
39WNK10.96622434
40FER0.95848726
41PDK10.86979694
42MTOR0.86966735
43LATS10.86503656
44MAP3K70.86434517
45NTRK10.86340762
46SGK30.84290934
47NEK90.81600329
48NLK0.81256642
49MAP3K60.80679732
50MAP3K10.80522838
51SMG10.80432057
52PDGFRB0.80343893
53MARK20.79786919
54PRKACG0.78957593
55PTK60.76556575
56LATS20.76494011
57MAPKAPK30.74462537
58SGK20.73695676
59PRKAA10.70828776
60PTK20.69956870
61SGK10.69347995
62SIK20.62011956
63LMTK20.59463092
64MAP2K60.57440627
65PRPF4B0.56065909
66IGF1R0.54950675
67EPHA40.53132494
68CSF1R0.52577842
69JAK20.52232145
70STK380.51876930
71NEK60.50533399
72KSR20.49868868
73ZAP700.49476827
74SRC0.47689805
75IRAK30.47569037
76CAMK1D0.47207275
77PRKCZ0.46501542
78MAPK120.42605783
79RPS6KB10.42040185
80MAPK30.41914129
81NTRK20.41156959
82GSK3A0.40979871
83MAPK150.37366679
84RPS6KA30.35346993
85CDK60.34679974
86CSNK1E0.34181953
87PRKG10.34027500
88MELK0.33073169
89MAPK100.32703783
90HIPK20.32033418
91PRKD10.31923841
92MAP2K40.31827264
93CAMK40.30957193
94CDK70.29116038
95FGR0.28458166
96MAPK10.28180255
97TBK10.27360808
98MYLK0.27220748
99MAP3K50.27047937
100MAPK40.24217902

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046105.16313988
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.08259783
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.07407335
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.93409209
5Caffeine metabolism_Homo sapiens_hsa002322.81145205
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.78687502
7Retinol metabolism_Homo sapiens_hsa008302.70118365
8Arginine biosynthesis_Homo sapiens_hsa002202.69686944
9Phenylalanine metabolism_Homo sapiens_hsa003602.51975861
10Fatty acid degradation_Homo sapiens_hsa000712.51065371
11Histidine metabolism_Homo sapiens_hsa003402.39670665
12Pentose and glucuronate interconversions_Homo sapiens_hsa000402.39625100
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.36136373
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.25144269
15Chemical carcinogenesis_Homo sapiens_hsa052042.23985053
16Tyrosine metabolism_Homo sapiens_hsa003502.23598421
17Steroid hormone biosynthesis_Homo sapiens_hsa001402.22929384
18* Staphylococcus aureus infection_Homo sapiens_hsa051502.00189026
19Bile secretion_Homo sapiens_hsa049761.95267983
20Drug metabolism - other enzymes_Homo sapiens_hsa009831.94506862
21PPAR signaling pathway_Homo sapiens_hsa033201.92381193
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.73662528
23Cyanoamino acid metabolism_Homo sapiens_hsa004601.73339371
24Vitamin B6 metabolism_Homo sapiens_hsa007501.68002157
25Prion diseases_Homo sapiens_hsa050201.61384117
26Starch and sucrose metabolism_Homo sapiens_hsa005001.58801282
27Fat digestion and absorption_Homo sapiens_hsa049751.57614618
28Tryptophan metabolism_Homo sapiens_hsa003801.54965009
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.54153140
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.53517449
31Butanoate metabolism_Homo sapiens_hsa006501.51990297
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48400053
33Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.47878871
34Fatty acid metabolism_Homo sapiens_hsa012121.23244281
35Fatty acid biosynthesis_Homo sapiens_hsa000611.21791097
36ABC transporters_Homo sapiens_hsa020101.19402313
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.18736022
382-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.15752654
39Arginine and proline metabolism_Homo sapiens_hsa003301.15611024
40beta-Alanine metabolism_Homo sapiens_hsa004101.09424101
41Biosynthesis of amino acids_Homo sapiens_hsa012301.07695680
42Peroxisome_Homo sapiens_hsa041461.07360644
43Linoleic acid metabolism_Homo sapiens_hsa005911.01906450
44Pyruvate metabolism_Homo sapiens_hsa006200.90556935
45Other glycan degradation_Homo sapiens_hsa005110.88952224
46Maturity onset diabetes of the young_Homo sapiens_hsa049500.83438844
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81607708
48Propanoate metabolism_Homo sapiens_hsa006400.80246305
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.78660524
50Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.78403559
51Glycosaminoglycan degradation_Homo sapiens_hsa005310.77616671
52Carbon metabolism_Homo sapiens_hsa012000.76688216
53Arachidonic acid metabolism_Homo sapiens_hsa005900.76043522
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.75836891
55Vitamin digestion and absorption_Homo sapiens_hsa049770.74753959
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.69143255
57Steroid biosynthesis_Homo sapiens_hsa001000.65190201
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.61192691
59Lysine degradation_Homo sapiens_hsa003100.61173514
60Glycerolipid metabolism_Homo sapiens_hsa005610.60650996
61* Pertussis_Homo sapiens_hsa051330.60421408
62Fructose and mannose metabolism_Homo sapiens_hsa000510.56303496
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53467952
64Insulin resistance_Homo sapiens_hsa049310.51602536
65Adipocytokine signaling pathway_Homo sapiens_hsa049200.50452960
66One carbon pool by folate_Homo sapiens_hsa006700.45863887
67Thyroid hormone synthesis_Homo sapiens_hsa049180.41349922
68Renin-angiotensin system_Homo sapiens_hsa046140.40938291
69Galactose metabolism_Homo sapiens_hsa000520.40107718
70Glucagon signaling pathway_Homo sapiens_hsa049220.33063658
71ECM-receptor interaction_Homo sapiens_hsa045120.31420914
72Metabolic pathways_Homo sapiens_hsa011000.27613447
73Sulfur relay system_Homo sapiens_hsa041220.27010004
74Mineral absorption_Homo sapiens_hsa049780.26070668
75AMPK signaling pathway_Homo sapiens_hsa041520.25951409
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23084436
77Sulfur metabolism_Homo sapiens_hsa009200.21321307
78Amoebiasis_Homo sapiens_hsa051460.19816732
79Fatty acid elongation_Homo sapiens_hsa000620.17838584
80Ovarian steroidogenesis_Homo sapiens_hsa049130.13440405
81Pentose phosphate pathway_Homo sapiens_hsa000300.12958121
82Carbohydrate digestion and absorption_Homo sapiens_hsa049730.12756019
83Insulin signaling pathway_Homo sapiens_hsa049100.12549782
84Protein digestion and absorption_Homo sapiens_hsa049740.10549738
85Glycerophospholipid metabolism_Homo sapiens_hsa005640.10022597
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.08181091
87N-Glycan biosynthesis_Homo sapiens_hsa005100.06877235
88Nitrogen metabolism_Homo sapiens_hsa009100.06037743
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.04355056
90Sphingolipid metabolism_Homo sapiens_hsa006000.02085124
91Circadian rhythm_Homo sapiens_hsa047100.01210026
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.01051834
93Focal adhesion_Homo sapiens_hsa04510-0.0770764
94Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0767605
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.0759707
96Aldosterone synthesis and secretion_Homo sapiens_hsa04925-0.0658845
97Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0647401
98Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0519305
99* Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0189249
100Glutathione metabolism_Homo sapiens_hsa00480-0.0052866

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