C8A

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: C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 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 complement C8 alpha-gamma deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)9.50161318
2omega-hydroxylase P450 pathway (GO:0097267)9.22844670
3epoxygenase P450 pathway (GO:0019373)9.09683169
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.60501264
5L-phenylalanine catabolic process (GO:0006559)7.60501264
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.25270525
7L-phenylalanine metabolic process (GO:0006558)7.25270525
8aromatic amino acid family catabolic process (GO:0009074)7.02882011
9indole-containing compound catabolic process (GO:0042436)6.57354276
10indolalkylamine catabolic process (GO:0046218)6.57354276
11tryptophan catabolic process (GO:0006569)6.57354276
12kynurenine metabolic process (GO:0070189)6.39674861
13bile acid biosynthetic process (GO:0006699)6.28867811
14drug metabolic process (GO:0017144)6.17163978
15tryptophan metabolic process (GO:0006568)6.14238974
16glyoxylate metabolic process (GO:0046487)5.98152658
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.89877846
18oxidative demethylation (GO:0070989)5.82886612
19urea cycle (GO:0000050)5.75708471
20urea metabolic process (GO:0019627)5.75708471
21* regulation of protein activation cascade (GO:2000257)5.74136165
22negative regulation of fibrinolysis (GO:0051918)5.65245299
23regulation of plasminogen activation (GO:0010755)5.58731048
24* complement activation, alternative pathway (GO:0006957)5.52554009
25regulation of fibrinolysis (GO:0051917)5.52486983
26alpha-linolenic acid metabolic process (GO:0036109)5.51517192
27protein carboxylation (GO:0018214)5.46249956
28peptidyl-glutamic acid carboxylation (GO:0017187)5.46249956
29cysteine metabolic process (GO:0006534)5.43518103
30ethanol metabolic process (GO:0006067)5.37595778
31* regulation of complement activation (GO:0030449)5.36764456
32sulfur amino acid catabolic process (GO:0000098)5.30955427
33nitrogen cycle metabolic process (GO:0071941)5.29175927
34bile acid metabolic process (GO:0008206)5.21263032
35high-density lipoprotein particle remodeling (GO:0034375)5.21218369
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.12421942
37serine family amino acid catabolic process (GO:0009071)5.09122529
38aromatic amino acid family metabolic process (GO:0009072)5.08549487
39* regulation of humoral immune response (GO:0002920)4.95501674
40homocysteine metabolic process (GO:0050667)4.90697767
41positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.89543148
42disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.89533920
43killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.89533920
44phenylpropanoid metabolic process (GO:0009698)4.79802000
45negative regulation of hemostasis (GO:1900047)4.78359911
46negative regulation of blood coagulation (GO:0030195)4.78359911
47regulation of triglyceride catabolic process (GO:0010896)4.77315173
48lysine catabolic process (GO:0006554)4.76959527
49lysine metabolic process (GO:0006553)4.76959527
50tyrosine metabolic process (GO:0006570)4.74451553
51alpha-amino acid catabolic process (GO:1901606)4.67537627
52coenzyme catabolic process (GO:0009109)4.66335514
53indolalkylamine metabolic process (GO:0006586)4.63316727
54reverse cholesterol transport (GO:0043691)4.59524381
55acylglycerol homeostasis (GO:0055090)4.57146437
56triglyceride homeostasis (GO:0070328)4.57146437
57amino-acid betaine metabolic process (GO:0006577)4.55731601
58amine catabolic process (GO:0009310)4.53117406
59cellular biogenic amine catabolic process (GO:0042402)4.53117406
60protein-lipid complex remodeling (GO:0034368)4.52505234
61macromolecular complex remodeling (GO:0034367)4.52505234
62plasma lipoprotein particle remodeling (GO:0034369)4.52505234
63bile acid and bile salt transport (GO:0015721)4.50047520
64glycine metabolic process (GO:0006544)4.46984396
65regulation of cholesterol esterification (GO:0010872)4.42976859
66imidazole-containing compound metabolic process (GO:0052803)4.41573057
67S-adenosylmethionine metabolic process (GO:0046500)4.40722180
68negative regulation of coagulation (GO:0050819)4.34414159
69negative regulation of wound healing (GO:0061045)4.32768683
70glutamate metabolic process (GO:0006536)4.30495312
71cellular amino acid catabolic process (GO:0009063)4.29552482
72negative regulation of cholesterol transport (GO:0032375)4.27336696
73negative regulation of sterol transport (GO:0032372)4.27336696
74cellular glucuronidation (GO:0052695)4.26931179
75phospholipid efflux (GO:0033700)4.26776654
76serine family amino acid metabolic process (GO:0009069)4.25856219
77cellular ketone body metabolic process (GO:0046950)4.25705740
78ethanol oxidation (GO:0006069)4.22941982
79positive regulation of hemostasis (GO:1900048)4.21086855
80positive regulation of blood coagulation (GO:0030194)4.21086855
81benzene-containing compound metabolic process (GO:0042537)4.19047885
82plasma lipoprotein particle clearance (GO:0034381)4.14569093
83cellular modified amino acid catabolic process (GO:0042219)4.12269643
84dicarboxylic acid biosynthetic process (GO:0043650)4.11722559
85fibrinolysis (GO:0042730)4.10027140
86cholesterol efflux (GO:0033344)4.04483238
87serine family amino acid biosynthetic process (GO:0009070)4.04102518
88negative regulation of complement activation (GO:0045916)4.03215960
89arginine metabolic process (GO:0006525)3.97577000
90aldehyde catabolic process (GO:0046185)3.96946066
91* complement activation, classical pathway (GO:0006958)3.96790380
92blood coagulation, intrinsic pathway (GO:0007597)3.92082661
93* complement activation (GO:0006956)3.91213941
94* cytolysis (GO:0019835)3.90658286
95acute inflammatory response (GO:0002526)3.89550689
96cofactor catabolic process (GO:0051187)3.88431262
97* protein activation cascade (GO:0072376)3.86348709
98acetyl-CoA metabolic process (GO:0006084)3.86034704
99regulation of apoptotic cell clearance (GO:2000425)3.86013447
100positive regulation of coagulation (GO:0050820)3.85697192
101alkaloid metabolic process (GO:0009820)3.83911121
102regulation of bile acid biosynthetic process (GO:0070857)3.79564672
103uronic acid metabolic process (GO:0006063)3.78737782
104glucuronate metabolic process (GO:0019585)3.78737782
105plasma lipoprotein particle assembly (GO:0034377)3.78110232
106low-density lipoprotein particle remodeling (GO:0034374)3.74230180
107phospholipid homeostasis (GO:0055091)3.73738360
108regulation of cholesterol homeostasis (GO:2000188)3.73313034
109positive regulation of fatty acid biosynthetic process (GO:0045723)3.73109358
110negative regulation of lipase activity (GO:0060192)3.72725652
111flavonoid metabolic process (GO:0009812)3.71909983
112organic acid catabolic process (GO:0016054)3.71712882
113carboxylic acid catabolic process (GO:0046395)3.71712882
114negative regulation of protein activation cascade (GO:2000258)3.71173851
115hormone catabolic process (GO:0042447)3.69617433
116intestinal cholesterol absorption (GO:0030299)3.68803931
117ketone body metabolic process (GO:1902224)3.68253246
118positive regulation of lipoprotein lipase activity (GO:0051006)3.67485061
119positive regulation of triglyceride lipase activity (GO:0061365)3.67485061
120cholesterol homeostasis (GO:0042632)3.66457329
121very-low-density lipoprotein particle assembly (GO:0034379)3.65441437
122NAD biosynthetic process (GO:0009435)3.61695245
123acute-phase response (GO:0006953)3.61025474
124sterol homeostasis (GO:0055092)3.60585139
125opsonization (GO:0008228)3.59923045
126drug catabolic process (GO:0042737)3.57619790
127positive regulation of lipid catabolic process (GO:0050996)3.57098345
128heme transport (GO:0015886)3.56446077
129nicotinamide nucleotide biosynthetic process (GO:0019359)3.56127622
130plasma lipoprotein particle organization (GO:0071827)3.45229438
131* regulation of acute inflammatory response (GO:0002673)3.44798401
132response to mercury ion (GO:0046689)3.42188961

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.33579535
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.20736247
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.19199247
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.46161153
5* FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.20140274
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.06357883
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.61508386
8* NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.09378043
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.03759496
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.53586056
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06292555
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0374383
13HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94098592
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.91753175
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.62501754
16HTT_18923047_ChIP-ChIP_STHdh_Human1.60952920
17CLOCK_20551151_ChIP-Seq_293T_Human1.48789938
18GATA1_22025678_ChIP-Seq_K562_Human1.48356447
19* HNF4A_19822575_ChIP-Seq_HepG2_Human1.40569347
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.36755654
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.28030870
22STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.26892939
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.25861884
24RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22382883
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18291107
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.04138353
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03145550
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01500702
29ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99496426
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97800253
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.93174964
32IRF8_22096565_ChIP-ChIP_GC-B_Human0.87925868
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.83927356
34ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.82241693
35AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81547372
36RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78842630
37GATA4_25053715_ChIP-Seq_YYC3_Human0.77309254
38KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76872372
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.76189864
40PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.75847111
41SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75378483
42Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.75333869
43BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.74732211
44SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74627161
45RARA_24833708_ChIP-Seq_LIVER_Mouse0.74007182
46CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.72783065
47FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.71813559
48AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70933253
49SALL4_18804426_ChIP-ChIP_XEN_Mouse0.69753478
50* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.69352862
51NFE2_27457419_Chip-Seq_LIVER_Mouse0.69129377
52NRF2_20460467_ChIP-Seq_MEFs_Mouse0.68731185
53NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.68731185
54ESR2_21235772_ChIP-Seq_MCF-7_Human0.67957370
55SOX2_21211035_ChIP-Seq_LN229_Human0.66948991
56* HNFA_21074721_ChIP-Seq_CACO-2_Human0.66774681
57RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64883096
58RARB_24833708_ChIP-Seq_LIVER_Mouse0.63684516
59TP53_18474530_ChIP-ChIP_U2OS_Human0.62951388
60ZNF263_19887448_ChIP-Seq_K562_Human0.61875832
61* PHF8_20622853_ChIP-Seq_HELA_Human0.61279366
62RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61225699
63RAC3_21632823_ChIP-Seq_H3396_Human0.58639019
64ETV2_25802403_ChIP-Seq_MESCs_Mouse0.57684940
65CEBPB_22108803_ChIP-Seq_LS180_Human0.56783981
66EGR1_19032775_ChIP-ChIP_M12_Human0.56682145
67EZH2_27294783_Chip-Seq_NPCs_Mouse0.56613747
68STAT3_1855785_ChIP-Seq_MESCs_Mouse0.56555907
69BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.56377871
70TAF15_26573619_Chip-Seq_HEK293_Human0.56054849
71* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.55748894
72TCF4_18268006_ChIP-ChIP_LS174T_Human0.55426859
73SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.55297334
74SPI1_20517297_ChIP-Seq_HL60_Human0.55074944
75* NFYA_21822215_ChIP-Seq_K562_Human0.54928028
76PIAS1_25552417_ChIP-Seq_VCAP_Human0.54591922
77NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.54222787
78AR_20517297_ChIP-Seq_VCAP_Human0.54219594
79NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.54098901
80FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.53914556
81FOXA1_25552417_ChIP-Seq_VCAP_Human0.53703106
82MYC_19915707_ChIP-ChIP_AK7_Human0.53211859
83ESR1_21235772_ChIP-Seq_MCF-7_Human0.52100139
84MYC_19829295_ChIP-Seq_ESCs_Human0.52033078
85* GATA6_21074721_ChIP-Seq_CACO-2_Human0.51840854
86SMC4_20622854_ChIP-Seq_HELA_Human0.51837658
87DNAJC2_21179169_ChIP-ChIP_NT2_Human0.51668680
88PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.50378390
89* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50067549
90CDX2_20551321_ChIP-Seq_CACO-2_Human0.50060422
91POU5F1_16518401_ChIP-PET_MESCs_Mouse0.49755438
92CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.49644824
93GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.49586689
94ESET_19884257_ChIP-Seq_ESCs_Mouse0.49541519
95CBP_21632823_ChIP-Seq_H3396_Human0.49308630
96SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.48684855
97SOX2_20726797_ChIP-Seq_SW620_Human0.48299136
98STAT1_17558387_ChIP-Seq_HELA_Human0.47974911
99* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.47545023
100LXR_22292898_ChIP-Seq_THP-1_Human0.47142286
101EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.47136117
102CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.46850619
103FOXO3_23340844_ChIP-Seq_DLD1_Human0.46520522
104CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.46060401
105E2F1_20622854_ChIP-Seq_HELA_Human0.45919250
106P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.45887835
107P53_21459846_ChIP-Seq_SAOS-2_Human0.45507830
108SUZ12_27294783_Chip-Seq_NPCs_Mouse0.45168110
109FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.45054638
110PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44631404
111CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.44224213
112GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.44063127
113TAF2_19829295_ChIP-Seq_ESCs_Human0.43278512
114FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.42739682
115ESR1_20079471_ChIP-ChIP_T-47D_Human0.42557368
116PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42273562
117PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.42148127
118BCAT_22108803_ChIP-Seq_LS180_Human0.41220229
119BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.40561471
120STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.40418252
121SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38888866
122SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38829497
123GATA1_19941827_ChIP-Seq_MEL_Mouse0.38461344
124MYC_27129775_Chip-Seq_CORNEA_Mouse0.38386608
125GATA6_25053715_ChIP-Seq_YYC3_Human0.38328226
126SPI1_26923725_Chip-Seq_HPCs_Mouse0.37527375
127ERG_20517297_ChIP-Seq_VCAP_Human0.37208274
128GATA2_19941826_ChIP-Seq_K562_Human0.36726452
129PPAR_26484153_Chip-Seq_NCI-H1993_Human0.36168895
130GATA1_19941826_ChIP-Seq_K562_Human0.35075073
131IRF1_19129219_ChIP-ChIP_H3396_Human0.34822778
132ERG_21242973_ChIP-ChIP_JURKAT_Human0.34423142
133NCOR_22424771_ChIP-Seq_293T_Human0.34265265
134LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.34154378
135EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.34072579
136CDX2_22108803_ChIP-Seq_LS180_Human0.33378225

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.23357083
2MP0005360_urolithiasis7.65381753
3MP0005085_abnormal_gallbladder_physiolo6.59562614
4MP0005365_abnormal_bile_salt6.19917994
5MP0008875_abnormal_xenobiotic_pharmacok4.87460211
6MP0003806_abnormal_nucleotide_metabolis4.33110194
7MP0003252_abnormal_bile_duct4.05489417
8MP0010329_abnormal_lipoprotein_level3.52601071
9MP0005083_abnormal_biliary_tract3.05220011
10MP0009840_abnormal_foam_cell3.01342807
11MP0003195_calcinosis2.79078938
12MP0005332_abnormal_amino_acid2.73297322
13MP0001666_abnormal_nutrient_absorption2.64704200
14MP0003191_abnormal_cellular_cholesterol2.32623088
15MP0000609_abnormal_liver_physiology2.16169766
16MP0004019_abnormal_vitamin_homeostasis2.09822307
17MP0002118_abnormal_lipid_homeostasis2.07494494
18MP0002138_abnormal_hepatobiliary_system2.02325987
19MP0003868_abnormal_feces_composition2.01511553
20MP0005319_abnormal_enzyme/_coenzyme1.84953851
21MP0001764_abnormal_homeostasis1.65471878
22MP0009697_abnormal_copulation1.57157398
23MP0005584_abnormal_enzyme/coenzyme_acti1.55044225
24MP0003011_delayed_dark_adaptation1.39180674
25MP0005647_abnormal_sex_gland1.24523094
26MP0003656_abnormal_erythrocyte_physiolo1.24375743
27MP0003186_abnormal_redox_activity1.23113358
28MP0009643_abnormal_urine_homeostasis1.22859442
29MP0000598_abnormal_liver_morphology1.18326930
30MP0003705_abnormal_hypodermis_morpholog1.16573098
31MP0005451_abnormal_body_composition1.15142708
32MP0009764_decreased_sensitivity_to1.07360785
33MP0002254_reproductive_system_inflammat1.06915344
34MP0010368_abnormal_lymphatic_system1.02851488
35MP0009763_increased_sensitivity_to1.02712429
36MP0000604_amyloidosis1.00515793
37MP0002282_abnormal_trachea_morphology0.95818923
38MP0005636_abnormal_mineral_homeostasis0.94955107
39MP0001915_intracranial_hemorrhage0.94660324
40MP0008469_abnormal_protein_level0.92100209
41MP0009642_abnormal_blood_homeostasis0.86059298
42MP0005084_abnormal_gallbladder_morpholo0.83978099
43MP0005408_hypopigmentation0.83289654
44MP0005220_abnormal_exocrine_pancreas0.82384303
45MP0005670_abnormal_white_adipose0.82004572
46MP0002876_abnormal_thyroid_physiology0.80185245
47MP0005376_homeostasis/metabolism_phenot0.78981676
48MP0006036_abnormal_mitochondrial_physio0.78825103
49MP0009765_abnormal_xenobiotic_induced0.77456173
50MP0002078_abnormal_glucose_homeostasis0.74644185
51MP0002249_abnormal_larynx_morphology0.74483956
52MP0005187_abnormal_penis_morphology0.71411442
53MP0005535_abnormal_body_temperature0.70206902
54MP0004130_abnormal_muscle_cell0.69821828
55MP0002971_abnormal_brown_adipose0.69470620
56MP0005334_abnormal_fat_pad0.67199884
57MP0003879_abnormal_hair_cell0.66012612
58MP0001661_extended_life_span0.65604350
59MP0004381_abnormal_hair_follicle0.65531122
60MP0003690_abnormal_glial_cell0.65096090
61MP0005266_abnormal_metabolism0.64900289
62MP0009053_abnormal_anal_canal0.60592106
63MP0005023_abnormal_wound_healing0.59820164
64MP0006035_abnormal_mitochondrial_morpho0.58340681
65MP0000639_abnormal_adrenal_gland0.57544741
66MP0009785_altered_susceptibility_to0.55477936
67MP0002928_abnormal_bile_duct0.55402244
68MP0001756_abnormal_urination0.55248327
69MP0003329_amyloid_beta_deposits0.54430194
70MP0009384_cardiac_valve_regurgitation0.53765030
71MP0003724_increased_susceptibility_to0.51661281
72MP0005464_abnormal_platelet_physiology0.50819088
73MP0000579_abnormal_nail_morphology0.50667385
74MP0005448_abnormal_energy_balance0.50263825
75MP0005395_other_phenotype0.47832876
76MP0009379_abnormal_foot_pigmentation0.47522760
77MP0000566_synostosis0.46898904
78MP0005166_decreased_susceptibility_to0.46694581
79MP0003718_maternal_effect0.44711347
80MP0002136_abnormal_kidney_physiology0.44503031
81MP0003436_decreased_susceptibility_to0.44485133
82MP0003638_abnormal_response/metabolism_0.44013745
83MP0002822_catalepsy0.42653873
84MP0008873_increased_physiological_sensi0.42036806
85MP0008874_decreased_physiological_sensi0.41361188
86MP0004782_abnormal_surfactant_physiolog0.41254846
87MP0005164_abnormal_response_to0.40927374
88MP0003075_altered_response_to0.39401425
89MP0005058_abnormal_lysosome_morphology0.38419841
90MP0002796_impaired_skin_barrier0.38378466
91MP0003953_abnormal_hormone_level0.38139834
92MP0004883_abnormal_blood_vessel0.37757604
93MP0005248_abnormal_Harderian_gland0.37561750
94MP0002837_dystrophic_cardiac_calcinosis0.37329245
95MP0000467_abnormal_esophagus_morphology0.36750847
96MP0005666_abnormal_adipose_tissue0.35886763
97MP0009672_abnormal_birth_weight0.34063067
98MP0000427_abnormal_hair_cycle0.31348303
99MP0006082_CNS_inflammation0.31006150
100MP0002332_abnormal_exercise_endurance0.30849242
101MP0000230_abnormal_systemic_arterial0.30645652
102MP0008872_abnormal_physiological_respon0.30584390
103MP0009115_abnormal_fat_cell0.30044161
104MP0005397_hematopoietic_system_phenotyp0.29936250
105MP0001545_abnormal_hematopoietic_system0.29936250
106MP0002132_abnormal_respiratory_system0.29814012
107MP0001881_abnormal_mammary_gland0.29689601
108MP0001853_heart_inflammation0.29257766
109MP0002970_abnormal_white_adipose0.28841896
110MP0002168_other_aberrant_phenotype0.28680269
111MP0005075_abnormal_melanosome_morpholog0.28352174
112MP0001845_abnormal_inflammatory_respons0.28143277
113MP0002089_abnormal_postnatal_growth/wei0.27800522
114MP0000249_abnormal_blood_vessel0.27496048
115MP0001851_eye_inflammation0.27016164
116MP0004264_abnormal_extraembryonic_tissu0.27009503
117MP0002060_abnormal_skin_morphology0.26732149
118MP0002128_abnormal_blood_circulation0.25240856
119MP0003633_abnormal_nervous_system0.19817218
120MP0003632_abnormal_nervous_system0.19046349
121MP0006292_abnormal_olfactory_placode0.18833221
122MP0000920_abnormal_myelination0.18799333
123MP0004272_abnormal_basement_membrane0.18638105
124MP0005197_abnormal_uvea_morphology0.17017931

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.72270938
2Deep venous thrombosis (HP:0002625)7.43410928
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.27475914
4Prolonged partial thromboplastin time (HP:0003645)6.74906082
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.64302335
6Hypobetalipoproteinemia (HP:0003563)6.27210629
7Xanthomatosis (HP:0000991)6.25607382
8* Complement deficiency (HP:0004431)5.81028852
9Hyperlipoproteinemia (HP:0010980)5.35945121
10Joint hemorrhage (HP:0005261)4.83781666
11Abnormality of the common coagulation pathway (HP:0010990)4.69069382
12Hypolipoproteinemia (HP:0010981)4.68317776
13Epidermoid cyst (HP:0200040)4.65585714
14Hyperammonemia (HP:0001987)4.53053382
15Hyperglycinemia (HP:0002154)4.50492386
16Fat malabsorption (HP:0002630)4.40333995
17Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.28553954
18Ketosis (HP:0001946)4.20976091
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.20098566
20* Abnormality of complement system (HP:0005339)4.12970027
21Abnormality of glutamine family amino acid metabolism (HP:0010902)4.11299043
22Abnormality of methionine metabolism (HP:0010901)4.10785027
23Hypoalphalipoproteinemia (HP:0003233)4.05972936
24Abnormality of aspartate family amino acid metabolism (HP:0010899)4.04818468
25Abnormality of the intrinsic pathway (HP:0010989)3.92857278
26Conjugated hyperbilirubinemia (HP:0002908)3.91870596
27Abnormality of serine family amino acid metabolism (HP:0010894)3.88432910
28Abnormality of glycine metabolism (HP:0010895)3.88432910
29Hyperglycinuria (HP:0003108)3.85224715
30Hypoglycemic coma (HP:0001325)3.76652875
31Abnormality of pyrimidine metabolism (HP:0004353)3.74531389
32Hypercholesterolemia (HP:0003124)3.48166781
33Steatorrhea (HP:0002570)3.36690583
34Spontaneous abortion (HP:0005268)3.35420864
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.31429395
36Hyperbilirubinemia (HP:0002904)3.28703697
37Abnormality of fatty-acid metabolism (HP:0004359)3.26941544
38Hypochromic microcytic anemia (HP:0004840)3.14054921
39Delayed CNS myelination (HP:0002188)3.07587879
40Myocardial infarction (HP:0001658)3.06494824
41Abnormality of serum amino acid levels (HP:0003112)3.05906665
42Recurrent gram-negative bacterial infections (HP:0005420)3.04725003
43Abnormality of nucleobase metabolism (HP:0010932)3.02510866
44Hepatocellular carcinoma (HP:0001402)3.01904536
45Ketoacidosis (HP:0001993)2.97314342
46Skin nodule (HP:0200036)2.87691106
47Purpura (HP:0000979)2.68706638
48Metabolic acidosis (HP:0001942)2.67362429
49Abnormality of purine metabolism (HP:0004352)2.66500604
50Acanthocytosis (HP:0001927)2.64116913
51Osteomalacia (HP:0002749)2.59409871
52Neonatal hypoglycemia (HP:0001998)2.56816777
53Gout (HP:0001997)2.56374121
54Lethargy (HP:0001254)2.54229325
55Abnormal gallbladder morphology (HP:0012437)2.49605890
56Pulmonary embolism (HP:0002204)2.48121352
57Vascular calcification (HP:0004934)2.48060097
58Spastic diplegia (HP:0001264)2.47199736
59Hypoglycemic seizures (HP:0002173)2.46973519
60Glomerulonephritis (HP:0000099)2.45621854
61Abnormality of dicarboxylic acid metabolism (HP:0010995)2.45605657
62Dicarboxylic aciduria (HP:0003215)2.45605657
63Neonatal onset (HP:0003623)2.45080388
64Mitral stenosis (HP:0001718)2.44911904
65Cholelithiasis (HP:0001081)2.43847526
66Fair hair (HP:0002286)2.43017972
67Abnormal gallbladder physiology (HP:0012438)2.38149826
68Cholecystitis (HP:0001082)2.38149826
69Cerebral edema (HP:0002181)2.35018436
70Gingival bleeding (HP:0000225)2.34038860
71Irritability (HP:0000737)2.31150344
72Amyloidosis (HP:0011034)2.29712298
73Sensorimotor neuropathy (HP:0007141)2.27337134
74Cardiovascular calcification (HP:0011915)2.19461439
75Esophageal varix (HP:0002040)2.17788011
76Malnutrition (HP:0004395)2.17618979
77Thrombophlebitis (HP:0004418)2.16502252
78Pancreatitis (HP:0001733)2.14710851
79Enlarged kidneys (HP:0000105)2.13185868
80Joint swelling (HP:0001386)2.10459267
81Menorrhagia (HP:0000132)2.09799712
82Late onset (HP:0003584)2.08781274
83Brushfield spots (HP:0001088)2.07349530
84Abnormality of the gallbladder (HP:0005264)2.06045677
85Opisthotonus (HP:0002179)2.02755994
86Hemorrhage of the eye (HP:0011885)2.02129295
87Vomiting (HP:0002013)2.01673408
88Hyperinsulinemic hypoglycemia (HP:0000825)2.01079888
89Elevated alkaline phosphatase (HP:0003155)2.00182126
90Reduced antithrombin III activity (HP:0001976)1.98032172
91Poikilocytosis (HP:0004447)1.97956687
92Epistaxis (HP:0000421)1.96404800
93Rickets (HP:0002748)1.94991061
94Generalized aminoaciduria (HP:0002909)1.93504740
95Abnormal enzyme/coenzyme activity (HP:0012379)1.92127474
96Abnormality of iron homeostasis (HP:0011031)1.91413947
97Increased serum ferritin (HP:0003281)1.90346200
98Abnormality of transition element cation homeostasis (HP:0011030)1.89249415
99* Systemic lupus erythematosus (HP:0002725)1.87637957
100Arthropathy (HP:0003040)1.87402080
101Hyperphosphaturia (HP:0003109)1.85501771
102Abnormal cartilage morphology (HP:0002763)1.84851141
103Elevated hepatic transaminases (HP:0002910)1.84399438
104Abnormality of alkaline phosphatase activity (HP:0004379)1.83437809
105Gangrene (HP:0100758)1.83070305
106Hypophosphatemic rickets (HP:0004912)1.83062851
107Renal cortical cysts (HP:0000803)1.83023804
108Abnormality of the Achilles tendon (HP:0005109)1.81163350
109Status epilepticus (HP:0002133)1.80259301
110Hyperglycemia (HP:0003074)1.77229690
111Abnormal delivery (HP:0001787)1.75893529
112Alkalosis (HP:0001948)1.74832187
113Nephritis (HP:0000123)1.73804955
114Abnormality of vitamin metabolism (HP:0100508)1.73567171
115Abnormality of proline metabolism (HP:0010907)1.73442710
116Hydroxyprolinuria (HP:0003080)1.73442710
117Increased serum pyruvate (HP:0003542)1.67582071
118Generalized hypopigmentation of hair (HP:0011358)1.67092057
119Cerebral palsy (HP:0100021)1.63005276
120Glycosuria (HP:0003076)1.62277916
121Abnormality of urine glucose concentration (HP:0011016)1.62277916
122Increased mean platelet volume (HP:0011877)1.61195076
123Bifid scrotum (HP:0000048)1.56999946
124Blue irides (HP:0000635)1.53388798
125Abnormal urine phosphate concentration (HP:0012599)1.49384586
126Atrioventricular block (HP:0001678)1.48245206
127Bile duct proliferation (HP:0001408)1.45939843
128Abnormal biliary tract physiology (HP:0012439)1.45939843

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.74679525
2ERN14.79785412
3FGFR44.74186624
4SIK14.19462044
5ERBB43.79809122
6TAOK33.33936091
7INSRR3.04597663
8MAP2K42.38445748
9MAPK112.21702128
10MST1R2.11417842
11NTRK31.90337795
12LATS11.77802603
13PIK3CG1.76736072
14TYK21.71284776
15PKN21.65850817
16FLT31.60176216
17TRIB31.57649190
18NEK91.52722522
19PTK61.45540143
20ABL21.45463730
21FRK1.42009085
22DAPK21.40827333
23FGFR21.40430432
24PRPF4B1.36948614
25JAK21.32987878
26MAP3K71.32389266
27NLK1.27563467
28ERBB21.27001408
29KDR1.15799629
30PRKAA21.10698959
31JAK11.10079362
32TNK21.06765512
33PINK11.06195697
34MAP3K141.05536780
35GRK61.03936211
36TBK11.03541506
37FER1.03433540
38AKT31.00963279
39STK38L1.00056163
40MAP3K100.98995466
41MAPK150.98644425
42CAMKK20.97577320
43MAPK40.97083890
44MAP2K30.95612195
45EPHA30.94941777
46MAP3K20.92690450
47PRKCZ0.91357391
48EPHB10.90478481
49PRKG10.86700342
50MET0.83370951
51CAMK2G0.82606105
52CDK60.77709912
53MAPK120.77457909
54TIE10.76996966
55PRKACA0.75854746
56PKN10.74990652
57MAP3K30.74287944
58PRKACG0.73418458
59IRAK30.70258395
60PDGFRA0.67489228
61PRKAA10.67191112
62SGK30.67039288
63FGFR30.66061035
64GSK3A0.66029907
65MAP3K110.64202669
66CAMK1D0.61960975
67RIPK10.61850747
68CSNK1E0.61843184
69DYRK1B0.61529953
70MAPK70.60685655
71MAP2K60.58312567
72CSK0.57285250
73ZAP700.56925200
74CSF1R0.56312871
75CAMKK10.55694743
76IKBKE0.55414586
77CSNK1D0.55260584
78BRSK20.55056007
79RPS6KA30.54291220
80BLK0.54218822
81SGK20.52905995
82PRKACB0.51855135
83TGFBR20.50279747
84PRKCB0.49911118
85SGK10.49865806
86PRKCQ0.49843241
87PDK20.49446287
88PDPK10.48905823
89PTK20.48342037
90SRC0.47694163
91MAP3K130.47357210
92KSR20.45830269
93GRK10.45000560
94SCYL20.44723553
95MAP3K50.44365199
96CSNK1G10.43765517
97IGF1R0.43745496
98FGFR10.43046508
99CSNK2A10.42347983
100CDK120.40305398
101EGFR0.39898186
102PRKCG0.38516791
103MAP3K60.38420612
104MAP2K10.38356803
105ICK0.37774782
106CSNK2A20.37612163
107EPHA40.37292150
108CDK40.37192022
109RET0.37116437
110SGK4940.36384909
111SGK2230.36384909
112MAPKAPK30.34710544
113MTOR0.34362245
114IRAK10.33646794
115MYLK0.32980369
116TAOK20.32392300
117MAP3K10.32011486
118CAMK40.29744560
119RPS6KB10.28887202
120PDK10.27711002
121LATS20.27279309
122PBK0.26379560
123WNK40.26279351
124PIK3CA0.25816391
125AKT20.25642136
126ABL10.25533285
127PRKCA0.25157327
128IRAK20.23966736
129PAK30.22181268
130CAMK1G0.22057349
131CSNK1G20.21916867
132PRKCH0.21194474
133BMX0.21028684
134MAPK30.18753071

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.83955221
2Nitrogen metabolism_Homo sapiens_hsa009103.62241645
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.43142994
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.18989470
5Arginine biosynthesis_Homo sapiens_hsa002203.08483229
6* Complement and coagulation cascades_Homo sapiens_hsa046102.91700893
7Tryptophan metabolism_Homo sapiens_hsa003802.74803737
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.64955040
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58064488
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.51130600
11Fatty acid degradation_Homo sapiens_hsa000712.47205001
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36856590
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.14150371
14Butanoate metabolism_Homo sapiens_hsa006502.13251834
15Peroxisome_Homo sapiens_hsa041462.12487665
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.02907826
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.90167013
18Propanoate metabolism_Homo sapiens_hsa006401.89245062
19Histidine metabolism_Homo sapiens_hsa003401.87167495
20PPAR signaling pathway_Homo sapiens_hsa033201.84832708
21Chemical carcinogenesis_Homo sapiens_hsa052041.84304449
22Staphylococcus aureus infection_Homo sapiens_hsa051501.84073425
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.80610218
24Caffeine metabolism_Homo sapiens_hsa002321.76207481
25Fatty acid metabolism_Homo sapiens_hsa012121.75352615
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.73611335
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.71070181
28Retinol metabolism_Homo sapiens_hsa008301.67190224
29beta-Alanine metabolism_Homo sapiens_hsa004101.66998542
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66829744
31Selenocompound metabolism_Homo sapiens_hsa004501.60775143
32Phenylalanine metabolism_Homo sapiens_hsa003601.55523806
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.53520081
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.51042687
35Bile secretion_Homo sapiens_hsa049761.50303579
36Tyrosine metabolism_Homo sapiens_hsa003501.48491788
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.47584530
38Pyruvate metabolism_Homo sapiens_hsa006201.33371271
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.32770787
40Sulfur metabolism_Homo sapiens_hsa009201.32690415
41Fatty acid elongation_Homo sapiens_hsa000621.27395556
42Starch and sucrose metabolism_Homo sapiens_hsa005001.26907599
43ABC transporters_Homo sapiens_hsa020101.22610474
44Folate biosynthesis_Homo sapiens_hsa007901.21418471
45Biosynthesis of amino acids_Homo sapiens_hsa012301.20116090
46Steroid biosynthesis_Homo sapiens_hsa001001.18446521
47Vitamin B6 metabolism_Homo sapiens_hsa007501.16643230
48Fat digestion and absorption_Homo sapiens_hsa049751.13744265
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11990889
50Carbon metabolism_Homo sapiens_hsa012001.11445555
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.08273093
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.95805861
53Sulfur relay system_Homo sapiens_hsa041220.94472351
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92151713
55Arginine and proline metabolism_Homo sapiens_hsa003300.90210961
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.90157764
57Vitamin digestion and absorption_Homo sapiens_hsa049770.86381615
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.82576422
59Lysine degradation_Homo sapiens_hsa003100.81707782
60One carbon pool by folate_Homo sapiens_hsa006700.76961064
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68834929
62Glutathione metabolism_Homo sapiens_hsa004800.65299325
63Glycerolipid metabolism_Homo sapiens_hsa005610.63745902
64Pentose phosphate pathway_Homo sapiens_hsa000300.56726550
65Fatty acid biosynthesis_Homo sapiens_hsa000610.51842560
66Pertussis_Homo sapiens_hsa051330.46248756
67Metabolic pathways_Homo sapiens_hsa011000.45615290
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44687111
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43028062
70* Prion diseases_Homo sapiens_hsa050200.37770533
71Galactose metabolism_Homo sapiens_hsa000520.24804778
72Insulin resistance_Homo sapiens_hsa049310.23945050
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22962368
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.22916342
75Fructose and mannose metabolism_Homo sapiens_hsa000510.22637397
76Linoleic acid metabolism_Homo sapiens_hsa005910.17357051
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.16155788
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16063482
79Glucagon signaling pathway_Homo sapiens_hsa049220.11343353
80Other glycan degradation_Homo sapiens_hsa005110.04069950
81AMPK signaling pathway_Homo sapiens_hsa041520.01471994
82Type II diabetes mellitus_Homo sapiens_hsa04930-0.2558931
83Sphingolipid metabolism_Homo sapiens_hsa00600-0.2520561
84Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2341969
85Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2332896
86RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.2261812
87Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2195577
88N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2189469
89Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2173440
90Circadian rhythm_Homo sapiens_hsa04710-0.2166142
91Bladder cancer_Homo sapiens_hsa05219-0.2043489
92Renin-angiotensin system_Homo sapiens_hsa04614-0.1957864
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1915079
94Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1828421
95Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1729389
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1543551
97African trypanosomiasis_Homo sapiens_hsa05143-0.1476717
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1469807
99* Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1408739
100Hepatitis C_Homo sapiens_hsa05160-0.1392989
101Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1353814
102Regulation of autophagy_Homo sapiens_hsa04140-0.1173959
103Insulin signaling pathway_Homo sapiens_hsa04910-0.0999696
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0755646
105Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0730960
106Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0713882
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0609382
108* Amoebiasis_Homo sapiens_hsa05146-0.0474497
109Mineral absorption_Homo sapiens_hsa04978-0.0235168
110Serotonergic synapse_Homo sapiens_hsa04726-0.0108034

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