C9

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 final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)9.74560420
2drug catabolic process (GO:0042737)9.74522282
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.65311297
4L-phenylalanine catabolic process (GO:0006559)7.65311297
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.30356283
6L-phenylalanine metabolic process (GO:0006558)7.30356283
7aromatic amino acid family catabolic process (GO:0009074)7.06822700
8drug metabolic process (GO:0017144)6.62567432
9tryptophan catabolic process (GO:0006569)6.57185720
10indole-containing compound catabolic process (GO:0042436)6.57185720
11indolalkylamine catabolic process (GO:0046218)6.57185720
12oxidative demethylation (GO:0070989)6.40429597
13kynurenine metabolic process (GO:0070189)6.37513538
14bile acid biosynthetic process (GO:0006699)6.35295569
15tryptophan metabolic process (GO:0006568)6.14024897
16glyoxylate metabolic process (GO:0046487)5.98006563
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.95660065
18urea cycle (GO:0000050)5.83565361
19urea metabolic process (GO:0019627)5.83565361
20* regulation of protein activation cascade (GO:2000257)5.72347281
21acute-phase response (GO:0006953)5.69263803
22negative regulation of fibrinolysis (GO:0051918)5.64843801
23* complement activation, alternative pathway (GO:0006957)5.55376294
24alpha-linolenic acid metabolic process (GO:0036109)5.52860557
25regulation of fibrinolysis (GO:0051917)5.51490362
26peptidyl-glutamic acid carboxylation (GO:0017187)5.46007291
27protein carboxylation (GO:0018214)5.46007291
28ethanol metabolic process (GO:0006067)5.44863050
29positive regulation of heterotypic cell-cell adhesion (GO:0034116)5.43811944
30cysteine metabolic process (GO:0006534)5.41988608
31* regulation of complement activation (GO:0030449)5.37584201
32nitrogen cycle metabolic process (GO:0071941)5.36384654
33sulfur amino acid catabolic process (GO:0000098)5.35146954
34high-density lipoprotein particle remodeling (GO:0034375)5.27303861
35bile acid metabolic process (GO:0008206)5.25039532
36regulation of plasminogen activation (GO:0010755)5.24882554
37aromatic amino acid family metabolic process (GO:0009072)5.11658102
38fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.11645461
39* regulation of humoral immune response (GO:0002920)5.11149586
40serine family amino acid catabolic process (GO:0009071)5.10963734
41homocysteine metabolic process (GO:0050667)4.93153528
42phenylpropanoid metabolic process (GO:0009698)4.88905019
43regulation of triglyceride catabolic process (GO:0010896)4.87275479
44tyrosine metabolic process (GO:0006570)4.80213498
45S-adenosylmethionine metabolic process (GO:0046500)4.77374186
46lysine metabolic process (GO:0006553)4.72540713
47lysine catabolic process (GO:0006554)4.72540713
48alpha-amino acid catabolic process (GO:1901606)4.69762677
49coenzyme catabolic process (GO:0009109)4.69632122
50indolalkylamine metabolic process (GO:0006586)4.63103351
51reverse cholesterol transport (GO:0043691)4.62064150
52negative regulation of blood coagulation (GO:0030195)4.61151524
53negative regulation of hemostasis (GO:1900047)4.61151524
54triglyceride homeostasis (GO:0070328)4.60688463
55acylglycerol homeostasis (GO:0055090)4.60688463
56macromolecular complex remodeling (GO:0034367)4.56376866
57plasma lipoprotein particle remodeling (GO:0034369)4.56376866
58protein-lipid complex remodeling (GO:0034368)4.56376866
59amine catabolic process (GO:0009310)4.53621763
60cellular biogenic amine catabolic process (GO:0042402)4.53621763
61amino-acid betaine metabolic process (GO:0006577)4.52277036
62bile acid and bile salt transport (GO:0015721)4.52249964
63glycine metabolic process (GO:0006544)4.51529585
64regulation of cholesterol esterification (GO:0010872)4.47848371
65imidazole-containing compound metabolic process (GO:0052803)4.38764536
66cellular glucuronidation (GO:0052695)4.33094568
67phospholipid efflux (GO:0033700)4.32641691
68negative regulation of sterol transport (GO:0032372)4.31730938
69negative regulation of cholesterol transport (GO:0032375)4.31730938
70cellular amino acid catabolic process (GO:0009063)4.31234823
71serine family amino acid metabolic process (GO:0009069)4.27086678
72ethanol oxidation (GO:0006069)4.27004814
73glutamate metabolic process (GO:0006536)4.26673296
74cellular ketone body metabolic process (GO:0046950)4.20108721
75negative regulation of wound healing (GO:0061045)4.19541116
76plasma lipoprotein particle clearance (GO:0034381)4.18707650
77negative regulation of coagulation (GO:0050819)4.18545854
78benzene-containing compound metabolic process (GO:0042537)4.18346607
79dicarboxylic acid biosynthetic process (GO:0043650)4.15721502
80cellular modified amino acid catabolic process (GO:0042219)4.10012320
81acute inflammatory response (GO:0002526)4.09855295
82negative regulation of complement activation (GO:0045916)4.09623325
83fibrinolysis (GO:0042730)4.09218334
84cholesterol efflux (GO:0033344)4.06525447
85serine family amino acid biosynthetic process (GO:0009070)4.04257140
86arginine metabolic process (GO:0006525)4.03583428
87* cytolysis (GO:0019835)4.02369929
88aldehyde catabolic process (GO:0046185)4.02170830
89* complement activation, classical pathway (GO:0006958)4.00402175
90positive regulation of blood coagulation (GO:0030194)3.95688013
91positive regulation of hemostasis (GO:1900048)3.95688013
92hormone catabolic process (GO:0042447)3.95201776
93alkaloid metabolic process (GO:0009820)3.94681990
94* complement activation (GO:0006956)3.93751147
95blood coagulation, intrinsic pathway (GO:0007597)3.92432042
96flavonoid metabolic process (GO:0009812)3.92017642
97cofactor catabolic process (GO:0051187)3.89932481
98acetyl-CoA metabolic process (GO:0006084)3.88399925
99* protein activation cascade (GO:0072376)3.86981360
100glucuronate metabolic process (GO:0019585)3.84545925
101uronic acid metabolic process (GO:0006063)3.84545925
102plasma lipoprotein particle assembly (GO:0034377)3.79769027
103regulation of bile acid biosynthetic process (GO:0070857)3.79260499
104low-density lipoprotein particle remodeling (GO:0034374)3.76451302
105carboxylic acid catabolic process (GO:0046395)3.72802109
106organic acid catabolic process (GO:0016054)3.72802109
107phospholipid homeostasis (GO:0055091)3.71668299
108positive regulation of lipoprotein lipase activity (GO:0051006)3.70212321
109positive regulation of triglyceride lipase activity (GO:0061365)3.70212321
110very-low-density lipoprotein particle assembly (GO:0034379)3.70135105
111regulation of apoptotic cell clearance (GO:2000425)3.68861098
112response to mercury ion (GO:0046689)3.68341515
113cholesterol homeostasis (GO:0042632)3.68204394
114regulation of cholesterol homeostasis (GO:2000188)3.66828781
115NAD biosynthetic process (GO:0009435)3.64969432
116ketone body metabolic process (GO:1902224)3.63459412
117positive regulation of coagulation (GO:0050820)3.62469320
118sterol homeostasis (GO:0055092)3.62121222
119positive regulation of lipid catabolic process (GO:0050996)3.62045459
120opsonization (GO:0008228)3.60843356
121* killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.59659964
122* disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.59659964
123pyridine nucleotide biosynthetic process (GO:0019363)3.59118838
124nicotinamide nucleotide biosynthetic process (GO:0019359)3.59118838
125negative regulation of lipase activity (GO:0060192)3.58661175
126negative regulation of protein activation cascade (GO:2000258)3.57986409
127heme transport (GO:0015886)3.56664363
128* regulation of acute inflammatory response (GO:0002673)3.54506229
129sodium-independent organic anion transport (GO:0043252)3.51433110
130xenobiotic metabolic process (GO:0006805)3.50380780
131positive regulation of fatty acid biosynthetic process (GO:0045723)3.47833251
132intestinal cholesterol absorption (GO:0030299)3.42364497
133oxaloacetate metabolic process (GO:0006107)3.41868673
134exogenous drug catabolic process (GO:0042738)10.4352115
135omega-hydroxylase P450 pathway (GO:0097267)10.1720530

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.34901900
2* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.23375108
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20824359
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.48649379
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.34601552
6* CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.98864026
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.66398213
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.16109478
9* CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.87340478
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.84119857
11* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.03572645
12* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9882663
13HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.95026135
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93672497
15HTT_18923047_ChIP-ChIP_STHdh_Human1.61680596
16* FOXA2_19822575_ChIP-Seq_HepG2_Human1.60388045
17GATA1_22025678_ChIP-Seq_K562_Human1.60387415
18CLOCK_20551151_ChIP-Seq_293T_Human1.52416502
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.48538546
20HNF4A_19822575_ChIP-Seq_HepG2_Human1.41079376
21STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.29242588
22TRIM28_21343339_ChIP-Seq_HEK293_Human1.26701168
23RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21728203
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21252157
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16685220
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02638945
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.00211593
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.98770762
29PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95344245
30SOX2_27498859_Chip-Seq_STOMACH_Mouse0.93550670
31CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.91695611
32HNFA_21074721_ChIP-Seq_CACO-2_Human0.90096086
33IRF8_22096565_ChIP-ChIP_GC-B_Human0.87644681
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.87015524
35PHF8_20622853_ChIP-Seq_HELA_Human0.85797077
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.84154920
37AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81532623
38FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79885935
39ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.79272917
40NFYA_21822215_ChIP-Seq_K562_Human0.79108060
41PIAS1_25552417_ChIP-Seq_VCAP_Human0.79061747
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.78638025
43NFE2_27457419_Chip-Seq_LIVER_Mouse0.78424688
44RARG_19884340_ChIP-ChIP_MEFs_Mouse0.77974869
45TP53_18474530_ChIP-ChIP_U2OS_Human0.77553749
46KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76865469
47ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.76594709
48BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76357575
49SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76326453
50GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.76189672
51Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.75237615
52POU3F2_20337985_ChIP-ChIP_501MEL_Human0.73971213
53* GATA4_25053715_ChIP-Seq_YYC3_Human0.73322945
54CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.73264147
55RARA_24833708_ChIP-Seq_LIVER_Mouse0.73231803
56SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.73231394
57NRF2_20460467_ChIP-Seq_MEFs_Mouse0.71435201
58NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.71435201
59GATA6_21074721_ChIP-Seq_CACO-2_Human0.71275620
60AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70999799
61EZH2_27294783_Chip-Seq_NPCs_Mouse0.70360588
62ESR2_21235772_ChIP-Seq_MCF-7_Human0.67617012
63* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66432275
64ZNF263_19887448_ChIP-Seq_K562_Human0.64617897
65RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64536984
66RARB_24833708_ChIP-Seq_LIVER_Mouse0.64236908
67ER_23166858_ChIP-Seq_MCF-7_Human0.62834737
68SOX2_21211035_ChIP-Seq_LN229_Human0.62145828
69ETV2_25802403_ChIP-Seq_MESCs_Mouse0.61944269
70CBX2_22325352_ChIP-Seq_293T-Rex_Human0.61596901
71SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.61175540
72RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60700759
73EGR1_19032775_ChIP-ChIP_M12_Human0.59289779
74ETV1_20927104_ChIP-Seq_GIST48_Human0.58233186
75CEBPB_22108803_ChIP-Seq_LS180_Human0.56979003
76TAF15_26573619_Chip-Seq_HEK293_Human0.56907188
77NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.55256497
78NFYB_21822215_ChIP-Seq_K562_Human0.55177100
79BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.55131133
80STAT3_1855785_ChIP-Seq_MESCs_Mouse0.55107608
81SUZ12_27294783_Chip-Seq_NPCs_Mouse0.55070094
82CRX_20693478_ChIP-Seq_RETINA_Mouse0.55048600
83FOXA1_25552417_ChIP-Seq_VCAP_Human0.54750305
84NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.54697341
85AR_20517297_ChIP-Seq_VCAP_Human0.54144877
86FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.53579579
87MYC_19829295_ChIP-Seq_ESCs_Human0.53514944
88FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.53322406
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.53069531
90MYC_19915707_ChIP-ChIP_AK7_Human0.52898842
91SPI1_20517297_ChIP-Seq_HL60_Human0.52332168
92OCT4_18555785_Chip-Seq_ESCs_Mouse0.52151926
93RAC3_21632823_ChIP-Seq_H3396_Human0.52092911
94ESR1_21235772_ChIP-Seq_MCF-7_Human0.51730686
95PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.51579651
96CDX2_22108803_ChIP-Seq_LS180_Human0.50992540
97ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.50437791
98CDX2_20551321_ChIP-Seq_CACO-2_Human0.50399368
99CBP_21632823_ChIP-Seq_H3396_Human0.50069526
100OCT4_21477851_ChIP-Seq_ESCs_Mouse0.49660914
101PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.49328519
102ESET_19884257_ChIP-Seq_ESCs_Mouse0.49317348
103FOXO3_23340844_ChIP-Seq_DLD1_Human0.48171743
104FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.47518690
105CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.47496523
106LXR_22292898_ChIP-Seq_THP-1_Human0.46353677
107GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.46140159
108STAT1_17558387_ChIP-Seq_HELA_Human0.45766372
109ESRRB_18555785_Chip-Seq_ESCs_Mouse0.45699730
110PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.45027425
111SMAD1_18555785_Chip-Seq_ESCs_Mouse0.44892051
112GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.44836020
113P53_21459846_ChIP-Seq_SAOS-2_Human0.44387494
114TCF4_18268006_ChIP-ChIP_LS174T_Human0.44370289
115FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.44001400
116BCAT_22108803_ChIP-Seq_LS180_Human0.43132507
117ESR1_20079471_ChIP-ChIP_T-47D_Human0.42878577
118CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.42715914
119PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42325625
120STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.39896609
121* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.39552687
122* TAF2_19829295_ChIP-Seq_ESCs_Human0.38613206
123GATA6_25053715_ChIP-Seq_YYC3_Human0.38441519
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.37785926
125SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.37705922
126ERG_20517297_ChIP-Seq_VCAP_Human0.37355507
127MYC_27129775_Chip-Seq_CORNEA_Mouse0.36790159
128GATA1_19941827_ChIP-Seq_MEL_Mouse0.36512841
129ERG_21242973_ChIP-ChIP_JURKAT_Human0.36470536
130PPAR_26484153_Chip-Seq_NCI-H1993_Human0.35998230
131FOXH1_21741376_ChIP-Seq_EPCs_Human0.35977821
132IRF1_19129219_ChIP-ChIP_H3396_Human0.35950384
133SPI1_26923725_Chip-Seq_HPCs_Mouse0.35871801
134GATA2_19941826_ChIP-Seq_K562_Human0.35599048
135BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.35496889
136NCOR_22424771_ChIP-Seq_293T_Human0.35046035
137ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.34991344
138GATA1_19941826_ChIP-Seq_K562_Human0.34591713
139EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.34224117

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.26293084
2MP0005360_urolithiasis7.65191890
3MP0005085_abnormal_gallbladder_physiolo6.63770545
4MP0005365_abnormal_bile_salt6.24048742
5MP0008875_abnormal_xenobiotic_pharmacok4.85617831
6MP0003806_abnormal_nucleotide_metabolis4.38443111
7MP0003252_abnormal_bile_duct4.05711283
8MP0010329_abnormal_lipoprotein_level3.53466332
9MP0009840_abnormal_foam_cell3.05273536
10MP0005083_abnormal_biliary_tract2.95161419
11MP0003195_calcinosis2.75451024
12MP0005332_abnormal_amino_acid2.70953680
13MP0001666_abnormal_nutrient_absorption2.64930030
14MP0003191_abnormal_cellular_cholesterol2.25293884
15MP0000609_abnormal_liver_physiology2.15778964
16MP0002118_abnormal_lipid_homeostasis2.07593980
17MP0004019_abnormal_vitamin_homeostasis2.06346657
18MP0003868_abnormal_feces_composition2.05238212
19MP0002138_abnormal_hepatobiliary_system1.99768077
20MP0005319_abnormal_enzyme/_coenzyme1.84674687
21MP0001764_abnormal_homeostasis1.66383681
22MP0009697_abnormal_copulation1.64960673
23MP0005584_abnormal_enzyme/coenzyme_acti1.54973716
24MP0003011_delayed_dark_adaptation1.39359161
25MP0005647_abnormal_sex_gland1.25533028
26MP0003186_abnormal_redox_activity1.24093218
27MP0003656_abnormal_erythrocyte_physiolo1.20786812
28MP0009643_abnormal_urine_homeostasis1.20051418
29MP0003705_abnormal_hypodermis_morpholog1.19781148
30MP0000598_abnormal_liver_morphology1.17510511
31MP0005451_abnormal_body_composition1.13342093
32MP0009764_decreased_sensitivity_to1.06132815
33MP0002254_reproductive_system_inflammat1.03757238
34MP0009763_increased_sensitivity_to1.02570918
35MP0010368_abnormal_lymphatic_system1.00802459
36MP0000604_amyloidosis0.98964108
37MP0002282_abnormal_trachea_morphology0.96291579
38MP0005636_abnormal_mineral_homeostasis0.92080742
39MP0008469_abnormal_protein_level0.91379958
40MP0005408_hypopigmentation0.85534169
41MP0009642_abnormal_blood_homeostasis0.85471153
42MP0005670_abnormal_white_adipose0.83557023
43MP0001915_intracranial_hemorrhage0.80754709
44MP0005220_abnormal_exocrine_pancreas0.80471418
45MP0005376_homeostasis/metabolism_phenot0.79766549
46MP0006036_abnormal_mitochondrial_physio0.79588022
47MP0005084_abnormal_gallbladder_morpholo0.79236237
48MP0002876_abnormal_thyroid_physiology0.77014486
49MP0005187_abnormal_penis_morphology0.76903960
50MP0009765_abnormal_xenobiotic_induced0.76524822
51MP0002078_abnormal_glucose_homeostasis0.74131803
52MP0002249_abnormal_larynx_morphology0.72731086
53MP0004381_abnormal_hair_follicle0.71784984
54MP0004130_abnormal_muscle_cell0.70907731
55MP0005535_abnormal_body_temperature0.69654746
56MP0002971_abnormal_brown_adipose0.68002892
57MP0005023_abnormal_wound_healing0.67057308
58MP0005334_abnormal_fat_pad0.67006763
59MP0005266_abnormal_metabolism0.66814702
60MP0003690_abnormal_glial_cell0.66395647
61MP0009053_abnormal_anal_canal0.63420107
62MP0009785_altered_susceptibility_to0.62486645
63MP0001661_extended_life_span0.60271874
64MP0006035_abnormal_mitochondrial_morpho0.57731340
65MP0000639_abnormal_adrenal_gland0.57613942
66MP0009384_cardiac_valve_regurgitation0.56017754
67MP0003329_amyloid_beta_deposits0.54630797
68MP0003879_abnormal_hair_cell0.54187085
69MP0000579_abnormal_nail_morphology0.52559964
70MP0009379_abnormal_foot_pigmentation0.51335266
71MP0001756_abnormal_urination0.51334122
72MP0002928_abnormal_bile_duct0.51056433
73MP0005448_abnormal_energy_balance0.49942802
74MP0003724_increased_susceptibility_to0.47621775
75MP0005166_decreased_susceptibility_to0.47567880
76MP0005464_abnormal_platelet_physiology0.47353371
77MP0002332_abnormal_exercise_endurance0.46936755
78MP0005395_other_phenotype0.46289862
79MP0003718_maternal_effect0.45042462
80MP0002822_catalepsy0.43829302
81MP0008873_increased_physiological_sensi0.42914655
82MP0003638_abnormal_response/metabolism_0.42158602
83MP0002136_abnormal_kidney_physiology0.41208779
84MP0008874_decreased_physiological_sensi0.41172127
85MP0002796_impaired_skin_barrier0.41009494
86MP0003436_decreased_susceptibility_to0.40555130
87MP0001545_abnormal_hematopoietic_system0.39613523
88MP0005397_hematopoietic_system_phenotyp0.39613523
89MP0002837_dystrophic_cardiac_calcinosis0.39220926
90MP0004782_abnormal_surfactant_physiolog0.39162288
91MP0003075_altered_response_to0.39029646
92MP0000467_abnormal_esophagus_morphology0.38019591
93MP0005248_abnormal_Harderian_gland0.37715538
94MP0003953_abnormal_hormone_level0.37266101
95MP0005666_abnormal_adipose_tissue0.36903710
96MP0005164_abnormal_response_to0.35233469
97MP0009672_abnormal_birth_weight0.34900501
98MP0001881_abnormal_mammary_gland0.32013668
99MP0005075_abnormal_melanosome_morpholog0.31610780
100MP0000427_abnormal_hair_cycle0.31398911
101MP0004883_abnormal_blood_vessel0.31036070
102MP0001851_eye_inflammation0.30395827
103MP0009115_abnormal_fat_cell0.29989829
104MP0000230_abnormal_systemic_arterial0.29464963
105MP0006082_CNS_inflammation0.28905887
106MP0002970_abnormal_white_adipose0.28844679
107MP0002060_abnormal_skin_morphology0.28756267
108MP0008872_abnormal_physiological_respon0.28698195
109MP0001853_heart_inflammation0.28144203
110MP0000249_abnormal_blood_vessel0.27695382
111MP0000566_synostosis0.27415878
112MP0002132_abnormal_respiratory_system0.27387511
113MP0001845_abnormal_inflammatory_respons0.27174681
114MP0001243_abnormal_dermal_layer0.27097748
115MP0002128_abnormal_blood_circulation0.27085006
116MP0002168_other_aberrant_phenotype0.27000437
117MP0003633_abnormal_nervous_system0.20284237
118MP0001944_abnormal_pancreas_morphology0.16568282
119MP0002135_abnormal_kidney_morphology0.16511298
120MP0005595_abnormal_vascular_smooth0.16192173
121MP0005197_abnormal_uvea_morphology0.15302471

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.74320474
2Deep venous thrombosis (HP:0002625)7.43898489
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.32973997
4Prolonged partial thromboplastin time (HP:0003645)6.74322711
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.73049959
6Hypobetalipoproteinemia (HP:0003563)6.35597546
7Xanthomatosis (HP:0000991)6.29318695
8* Complement deficiency (HP:0004431)5.85419944
9Hyperlipoproteinemia (HP:0010980)5.39787501
10Joint hemorrhage (HP:0005261)4.80787005
11Epidermoid cyst (HP:0200040)4.71090076
12Hypolipoproteinemia (HP:0010981)4.70215862
13Abnormality of the common coagulation pathway (HP:0010990)4.60284786
14Hyperammonemia (HP:0001987)4.54624236
15Hyperglycinemia (HP:0002154)4.49950739
16Fat malabsorption (HP:0002630)4.42748306
17Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.30224040
18Nephritis (HP:0000123)4.21876783
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.20142392
20Ketosis (HP:0001946)4.18066032
21* Abnormality of complement system (HP:0005339)4.16180059
22Abnormality of methionine metabolism (HP:0010901)4.15804460
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.07988587
24Abnormality of aspartate family amino acid metabolism (HP:0010899)4.04093257
25Hypoalphalipoproteinemia (HP:0003233)4.03927477
26Abnormality of the intrinsic pathway (HP:0010989)3.93157343
27Conjugated hyperbilirubinemia (HP:0002908)3.86044562
28Abnormality of glycine metabolism (HP:0010895)3.84037780
29Abnormality of serine family amino acid metabolism (HP:0010894)3.84037780
30Abnormality of pyrimidine metabolism (HP:0004353)3.80890513
31Hyperglycinuria (HP:0003108)3.80422379
32Hypoglycemic coma (HP:0001325)3.78871739
33Hypercholesterolemia (HP:0003124)3.47464067
34Steatorrhea (HP:0002570)3.40997522
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.34397815
36Hyperbilirubinemia (HP:0002904)3.25904969
37Abnormality of fatty-acid metabolism (HP:0004359)3.23719315
38Systemic lupus erythematosus (HP:0002725)3.19455572
39Hypochromic microcytic anemia (HP:0004840)3.15050847
40Spontaneous abortion (HP:0005268)3.13995248
41Recurrent gram-negative bacterial infections (HP:0005420)3.09668750
42Abnormality of serum amino acid levels (HP:0003112)3.08306487
43Myocardial infarction (HP:0001658)3.04536899
44Delayed CNS myelination (HP:0002188)3.02867580
45Hepatocellular carcinoma (HP:0001402)3.00648836
46Abnormality of nucleobase metabolism (HP:0010932)3.00640964
47Ketoacidosis (HP:0001993)2.94004366
48Skin nodule (HP:0200036)2.91332894
49Neonatal hypoglycemia (HP:0001998)2.83922958
50Osteomalacia (HP:0002749)2.67107912
51Metabolic acidosis (HP:0001942)2.64387925
52Abnormality of purine metabolism (HP:0004352)2.60516190
53Acanthocytosis (HP:0001927)2.60463986
54Lethargy (HP:0001254)2.55243495
55Fair hair (HP:0002286)2.51895854
56Abnormal gallbladder morphology (HP:0012437)2.50697996
57Spastic diplegia (HP:0001264)2.48478601
58Neonatal onset (HP:0003623)2.47686406
59Hypoglycemic seizures (HP:0002173)2.47661478
60Gout (HP:0001997)2.45304452
61Cholelithiasis (HP:0001081)2.44882687
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.43879247
63Dicarboxylic aciduria (HP:0003215)2.43879247
64Vascular calcification (HP:0004934)2.43791529
65Cholecystitis (HP:0001082)2.43418316
66Abnormal gallbladder physiology (HP:0012438)2.43418316
67Mitral stenosis (HP:0001718)2.43366937
68Purpura (HP:0000979)2.39636624
69Cerebral edema (HP:0002181)2.38377472
70Glomerulonephritis (HP:0000099)2.36004438
71Irritability (HP:0000737)2.31740363
72Pulmonary embolism (HP:0002204)2.30810906
73Joint swelling (HP:0001386)2.27213762
74Sensorimotor neuropathy (HP:0007141)2.26629564
75Gingival bleeding (HP:0000225)2.25834902
76Amyloidosis (HP:0011034)2.23831008
77Esophageal varix (HP:0002040)2.18551506
78Cardiovascular calcification (HP:0011915)2.15909875
79Pancreatitis (HP:0001733)2.14359944
80Malnutrition (HP:0004395)2.13035907
81Enlarged kidneys (HP:0000105)2.09426019
82Thrombophlebitis (HP:0004418)2.08964894
83Late onset (HP:0003584)2.06526040
84Abnormality of the gallbladder (HP:0005264)2.06388706
85Menorrhagia (HP:0000132)2.06237387
86Brushfield spots (HP:0001088)2.05940991
87Hyperinsulinemic hypoglycemia (HP:0000825)2.02687049
88Opisthotonus (HP:0002179)2.01704995
89Vomiting (HP:0002013)1.99527050
90Hemorrhage of the eye (HP:0011885)1.96156344
91Poikilocytosis (HP:0004447)1.94682736
92Reduced antithrombin III activity (HP:0001976)1.94082446
93Increased serum ferritin (HP:0003281)1.92800281
94Rickets (HP:0002748)1.92756229
95Epistaxis (HP:0000421)1.92427519
96Abnormality of iron homeostasis (HP:0011031)1.91961484
97Abnormal enzyme/coenzyme activity (HP:0012379)1.91560920
98Abnormality of alkaline phosphatase activity (HP:0004379)1.91173993
99Generalized aminoaciduria (HP:0002909)1.90425453
100Abnormality of transition element cation homeostasis (HP:0011030)1.88910221
101Abnormal cartilage morphology (HP:0002763)1.88073652
102Abnormal delivery (HP:0001787)1.87982162
103Hyperphosphaturia (HP:0003109)1.85106478
104Status epilepticus (HP:0002133)1.83018764
105Elevated hepatic transaminases (HP:0002910)1.82394696
106Hypophosphatemic rickets (HP:0004912)1.81684481
107Renal cortical cysts (HP:0000803)1.81121191
108Hyperglycemia (HP:0003074)1.80642413
109Cerebral palsy (HP:0100021)1.77958289
110Generalized hypopigmentation of hair (HP:0011358)1.77439599
111Abnormality of vitamin metabolism (HP:0100508)1.75086050
112Elevated alkaline phosphatase (HP:0003155)1.73389673
113Alkalosis (HP:0001948)1.70682478
114Arthropathy (HP:0003040)1.69842257
115Abnormality of proline metabolism (HP:0010907)1.69411735
116Hydroxyprolinuria (HP:0003080)1.69411735
117Gangrene (HP:0100758)1.68224278
118Increased mean platelet volume (HP:0011877)1.64571960
119Glycosuria (HP:0003076)1.64261700
120Abnormality of urine glucose concentration (HP:0011016)1.64261700
121Increased serum pyruvate (HP:0003542)1.60593887
122Bile duct proliferation (HP:0001408)1.58243676
123Abnormal biliary tract physiology (HP:0012439)1.58243676
124Blue irides (HP:0000635)1.58056961
125Atrioventricular block (HP:0001678)1.55444318
126Abnormality of the Achilles tendon (HP:0005109)1.49189782
127Abnormal platelet volume (HP:0011876)1.49142378
128Abnormal platelet function (HP:0011869)1.47565319
129Impaired platelet aggregation (HP:0003540)1.47565319

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.78158162
2ERN14.71408518
3FGFR44.64634489
4SIK14.18263516
5ERBB43.88701916
6TAOK33.26921034
7INSRR3.07794225
8MAP2K42.39796741
9MAPK112.22323685
10MST1R2.12294373
11LATS11.87801720
12NLK1.82613964
13PIK3CG1.77294791
14PRPF4B1.75885658
15PKN21.69809455
16TYK21.66327329
17FLT31.60809237
18TRIB31.56753487
19TNK21.54747145
20NEK91.54229047
21FER1.51625207
22ABL21.50507311
23FGFR21.47050275
24FRK1.46957631
25NTRK31.46115461
26PTK61.41666613
27DAPK21.37299859
28JAK21.34243301
29MAP3K71.31538043
30CAMKK21.29923416
31ERBB21.28830447
32KDR1.14876894
33JAK11.11505938
34PRKAA21.08952123
35BLK1.07090793
36PINK11.04244054
37GRK61.03504370
38TBK11.03342802
39MAP3K141.00573011
40MAP3K100.99232060
41MAPK40.98622570
42MAPK150.96635206
43MAP2K30.93709919
44PRKG10.93512788
45PKN10.92331013
46STK38L0.92295161
47PRKCZ0.90674749
48EPHA30.88698840
49CAMK2G0.88444083
50MET0.85778343
51EPHB10.83858221
52MAP3K30.80225994
53SCYL20.80002558
54MAP3K20.79828557
55CDK60.79140176
56PRKACA0.78562367
57BRSK20.77834246
58MAPK120.77692007
59AKT30.76723460
60PRKACG0.73974633
61MYLK0.69939185
62PDK20.69867549
63CAMKK10.69567392
64IRAK30.68380065
65TIE10.68306234
66ZAP700.68120134
67GSK3A0.67265461
68CAMK1D0.67217683
69RIPK10.65773618
70MAP3K110.65273481
71PRKAA10.64987967
72FGFR30.63368412
73DYRK1B0.62728434
74SGK30.62640958
75MAP2K60.60032081
76PRKACB0.59858021
77KSR20.58798776
78MAPK70.58684821
79CSK0.57910449
80CSF1R0.54829534
81CSNK1E0.54392444
82PRKCB0.52649324
83IKBKE0.52613342
84RPS6KA30.50656244
85WNK30.50608906
86PTK20.49189440
87PRKCQ0.48918331
88CSNK1G10.47656888
89PDPK10.47644781
90TGFBR20.47473553
91MAP3K50.47205137
92SGK20.46336280
93IGF1R0.45781468
94CSNK1D0.45043065
95ARAF0.44982541
96EGFR0.43489390
97MAP2K10.43017833
98GRK10.40228448
99MAP3K60.40138097
100SRC0.39517718
101MAP3K130.39493367
102PRKCG0.39464715
103EPHA40.38416470
104RET0.38010823
105BMX0.37850468
106CDK40.37713936
107LATS20.37712583
108KIT0.37073582
109ICK0.36449409
110CAMK1G0.35080474
111CSNK2A10.34982550
112MTOR0.34972181
113MUSK0.34288260
114TAOK20.34061530
115CAMK40.31624278
116SGK4940.31065338
117SGK2230.31065338
118MAP3K10.30891164
119STK160.30775719
120IRAK10.29904146
121AKT20.29675541
122CSNK2A20.28923511
123MAPK30.27955003
124ABL10.26523251
125PDK10.26336936
126PBK0.26313852
127PIK3CA0.26174362
128CSNK1G20.25637236
129PRKCA0.25407881
130PAK30.25036568
131IRAK20.24587797
132PRKCH0.23251271
133CSNK1G30.22780945

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.89479439
2Nitrogen metabolism_Homo sapiens_hsa009103.61025900
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.49549807
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.20210011
5Arginine biosynthesis_Homo sapiens_hsa002203.11193238
6* Complement and coagulation cascades_Homo sapiens_hsa046102.89203486
7Tryptophan metabolism_Homo sapiens_hsa003802.73660077
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.62698974
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58091507
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.49537376
11Fatty acid degradation_Homo sapiens_hsa000712.44861429
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35260722
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.14081604
14Peroxisome_Homo sapiens_hsa041462.11369472
15Butanoate metabolism_Homo sapiens_hsa006502.08563135
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.04941808
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.92104256
18Histidine metabolism_Homo sapiens_hsa003401.88302450
19Propanoate metabolism_Homo sapiens_hsa006401.87018082
20Chemical carcinogenesis_Homo sapiens_hsa052041.85199312
21PPAR signaling pathway_Homo sapiens_hsa033201.84897933
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.82517920
23Staphylococcus aureus infection_Homo sapiens_hsa051501.79609964
24Caffeine metabolism_Homo sapiens_hsa002321.77755529
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76789012
26Fatty acid metabolism_Homo sapiens_hsa012121.73418006
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.72004677
28Retinol metabolism_Homo sapiens_hsa008301.68595144
29beta-Alanine metabolism_Homo sapiens_hsa004101.66280663
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64861246
31Phenylalanine metabolism_Homo sapiens_hsa003601.59264572
32Selenocompound metabolism_Homo sapiens_hsa004501.57766304
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50977851
34Tyrosine metabolism_Homo sapiens_hsa003501.50724626
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.50135653
36Bile secretion_Homo sapiens_hsa049761.48902056
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.45133989
38Sulfur metabolism_Homo sapiens_hsa009201.33781977
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.33291852
40Pyruvate metabolism_Homo sapiens_hsa006201.31950200
41Fatty acid elongation_Homo sapiens_hsa000621.28871729
42Starch and sucrose metabolism_Homo sapiens_hsa005001.28752155
43Folate biosynthesis_Homo sapiens_hsa007901.21945884
44ABC transporters_Homo sapiens_hsa020101.20369691
45Biosynthesis of amino acids_Homo sapiens_hsa012301.20073736
46Steroid biosynthesis_Homo sapiens_hsa001001.16098502
47Vitamin B6 metabolism_Homo sapiens_hsa007501.15633918
48Fat digestion and absorption_Homo sapiens_hsa049751.13909049
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11520219
50Carbon metabolism_Homo sapiens_hsa012001.10698227
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.06980567
52Sulfur relay system_Homo sapiens_hsa041220.95990134
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92530476
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.91889057
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.90881995
56Arginine and proline metabolism_Homo sapiens_hsa003300.90812222
57Vitamin digestion and absorption_Homo sapiens_hsa049770.86088307
58Lysine degradation_Homo sapiens_hsa003100.79021472
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79014412
60One carbon pool by folate_Homo sapiens_hsa006700.75896281
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68616526
62Glutathione metabolism_Homo sapiens_hsa004800.65288145
63Glycerolipid metabolism_Homo sapiens_hsa005610.63104626
64Pentose phosphate pathway_Homo sapiens_hsa000300.55399967
65Fatty acid biosynthesis_Homo sapiens_hsa000610.53023336
66Pertussis_Homo sapiens_hsa051330.46937073
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45997540
68Metabolic pathways_Homo sapiens_hsa011000.45458468
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43338138
70* Prion diseases_Homo sapiens_hsa050200.41861051
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25890274
72Galactose metabolism_Homo sapiens_hsa000520.24544874
73Insulin resistance_Homo sapiens_hsa049310.23488293
74Fructose and mannose metabolism_Homo sapiens_hsa000510.22702119
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.22285481
76Linoleic acid metabolism_Homo sapiens_hsa005910.21077503
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.16665659
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15739291
79Glucagon signaling pathway_Homo sapiens_hsa049220.11224030
80Serotonergic synapse_Homo sapiens_hsa047260.03259825
81AMPK signaling pathway_Homo sapiens_hsa041520.01209798
82Platelet activation_Homo sapiens_hsa04611-0.2645389
83FoxO signaling pathway_Homo sapiens_hsa04068-0.2619523
84Type II diabetes mellitus_Homo sapiens_hsa04930-0.2496292
85Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2342007
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2301972
87Ether lipid metabolism_Homo sapiens_hsa00565-0.2296829
88Circadian rhythm_Homo sapiens_hsa04710-0.2295223
89Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2247387
90Renin-angiotensin system_Homo sapiens_hsa04614-0.2196616
91Bladder cancer_Homo sapiens_hsa05219-0.2111478
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2002243
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1822803
94Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1765754
95Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1661255
96Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1541882
97Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1509267
98Hepatitis C_Homo sapiens_hsa05160-0.1490574
99African trypanosomiasis_Homo sapiens_hsa05143-0.1427755
100Other glycan degradation_Homo sapiens_hsa00511-0.1358530
101* Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1348085
102Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1307371
103Regulation of autophagy_Homo sapiens_hsa04140-0.1167929
104Insulin signaling pathway_Homo sapiens_hsa04910-0.0985346
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0787140
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0708112
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0690586
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0663125
109Mineral absorption_Homo sapiens_hsa04978-0.0546736
110* Amoebiasis_Homo sapiens_hsa05146-0.0121496

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