CFH

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 is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)7.30696322
2omega-hydroxylase P450 pathway (GO:0097267)6.74790739
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.70889681
4L-phenylalanine catabolic process (GO:0006559)6.70889681
5L-phenylalanine metabolic process (GO:0006558)6.35566940
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.35566940
7aromatic amino acid family catabolic process (GO:0009074)6.12510954
8* regulation of protein activation cascade (GO:2000257)5.85415291
9* complement activation, alternative pathway (GO:0006957)5.82975202
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.76188693
11tryptophan catabolic process (GO:0006569)5.66739230
12indole-containing compound catabolic process (GO:0042436)5.66739230
13indolalkylamine catabolic process (GO:0046218)5.66739230
14* regulation of complement activation (GO:0030449)5.57917526
15bile acid biosynthetic process (GO:0006699)5.52342031
16kynurenine metabolic process (GO:0070189)5.50631721
17peptidyl-glutamic acid carboxylation (GO:0017187)5.44083652
18protein carboxylation (GO:0018214)5.44083652
19tryptophan metabolic process (GO:0006568)5.40980089
20homocysteine metabolic process (GO:0050667)5.35248372
21glyoxylate metabolic process (GO:0046487)5.27759052
22negative regulation of fibrinolysis (GO:0051918)5.20493090
23urea cycle (GO:0000050)5.19558072
24urea metabolic process (GO:0019627)5.19558072
25regulation of fibrinolysis (GO:0051917)5.10385635
26alpha-linolenic acid metabolic process (GO:0036109)5.10042697
27high-density lipoprotein particle remodeling (GO:0034375)5.01502705
28sulfur amino acid catabolic process (GO:0000098)4.81871413
29regulation of plasminogen activation (GO:0010755)4.77017607
30* regulation of humoral immune response (GO:0002920)4.76110107
31nitrogen cycle metabolic process (GO:0071941)4.75497849
32cysteine metabolic process (GO:0006534)4.71480786
33bile acid metabolic process (GO:0008206)4.69359480
34fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.64747543
35negative regulation of hemostasis (GO:1900047)4.63879396
36negative regulation of blood coagulation (GO:0030195)4.63879396
37oxidative demethylation (GO:0070989)4.61310957
38ethanol metabolic process (GO:0006067)4.57786674
39reverse cholesterol transport (GO:0043691)4.54506847
40negative regulation of protein activation cascade (GO:2000258)4.44814268
41hormone catabolic process (GO:0042447)4.42580691
42aromatic amino acid family metabolic process (GO:0009072)4.41222135
43serine family amino acid catabolic process (GO:0009071)4.39768080
44regulation of triglyceride catabolic process (GO:0010896)4.39013906
45tyrosine metabolic process (GO:0006570)4.37765594
46regulation of cholesterol esterification (GO:0010872)4.37212883
47phospholipid efflux (GO:0033700)4.32806694
48plasma lipoprotein particle remodeling (GO:0034369)4.32578032
49protein-lipid complex remodeling (GO:0034368)4.32578032
50macromolecular complex remodeling (GO:0034367)4.32578032
51negative regulation of wound healing (GO:0061045)4.32347940
52bile acid and bile salt transport (GO:0015721)4.31525484
53negative regulation of coagulation (GO:0050819)4.30117430
54complement activation, classical pathway (GO:0006958)4.29988515
55positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.27036854
56positive regulation of triglyceride lipase activity (GO:0061365)4.26443329
57positive regulation of lipoprotein lipase activity (GO:0051006)4.26443329
58lysine metabolic process (GO:0006553)4.26011165
59lysine catabolic process (GO:0006554)4.26011165
60triglyceride homeostasis (GO:0070328)4.21226030
61acylglycerol homeostasis (GO:0055090)4.21226030
62regulation of apoptotic cell clearance (GO:2000425)4.20559848
63amino-acid betaine metabolic process (GO:0006577)4.19625825
64fibrinolysis (GO:0042730)4.17944321
65* complement activation (GO:0006956)4.17238566
66plasma lipoprotein particle clearance (GO:0034381)4.14362469
67alpha-amino acid catabolic process (GO:1901606)4.09800059
68cellular glucuronidation (GO:0052695)4.02999669
69indolalkylamine metabolic process (GO:0006586)4.01260804
70negative regulation of cholesterol transport (GO:0032375)4.00021750
71negative regulation of sterol transport (GO:0032372)4.00021750
72cholesterol efflux (GO:0033344)3.99155825
73cellular biogenic amine catabolic process (GO:0042402)3.96466755
74amine catabolic process (GO:0009310)3.96466755
75phenylpropanoid metabolic process (GO:0009698)3.94774710
76* protein activation cascade (GO:0072376)3.91330918
77polyketide metabolic process (GO:0030638)3.90859345
78doxorubicin metabolic process (GO:0044598)3.90859345
79daunorubicin metabolic process (GO:0044597)3.90859345
80benzene-containing compound metabolic process (GO:0042537)3.88619357
81negative regulation of humoral immune response (GO:0002921)3.85855718
82positive regulation of blood coagulation (GO:0030194)3.85248586
83positive regulation of hemostasis (GO:1900048)3.85248586
84cellular ketone body metabolic process (GO:0046950)3.84128894
85opsonization (GO:0008228)3.82238173
86blood coagulation, intrinsic pathway (GO:0007597)3.79826028
87coenzyme catabolic process (GO:0009109)3.79693318
88phospholipid homeostasis (GO:0055091)3.79281076
89cellular amino acid catabolic process (GO:0009063)3.77984136
90imidazole-containing compound metabolic process (GO:0052803)3.75758808
91plasma lipoprotein particle assembly (GO:0034377)3.74888120
92cellular modified amino acid catabolic process (GO:0042219)3.73638074
93ethanol oxidation (GO:0006069)3.73384376
94low-density lipoprotein particle remodeling (GO:0034374)3.72788107
95glutamate metabolic process (GO:0006536)3.70983372
96negative regulation of complement activation (GO:0045916)3.68077073
97dicarboxylic acid biosynthetic process (GO:0043650)3.61825392
98flavonoid metabolic process (GO:0009812)3.61291697
99primary alcohol catabolic process (GO:0034310)3.60533812
100positive regulation of coagulation (GO:0050820)3.56743862
101glucuronate metabolic process (GO:0019585)3.56262304
102uronic acid metabolic process (GO:0006063)3.56262304
103glycine metabolic process (GO:0006544)3.54822341
104arginine metabolic process (GO:0006525)3.53391653
105cytolysis (GO:0019835)3.52165780
106acute inflammatory response (GO:0002526)3.51142863
107positive regulation of lipid catabolic process (GO:0050996)3.51129078
108cholesterol homeostasis (GO:0042632)3.50815624
109negative regulation of lipase activity (GO:0060192)3.47362116
110* regulation of acute inflammatory response (GO:0002673)3.47041036
111drug catabolic process (GO:0042737)3.46873631
112very-low-density lipoprotein particle assembly (GO:0034379)3.45518522
113sterol homeostasis (GO:0055092)3.45307143
114positive regulation of fatty acid beta-oxidation (GO:0032000)3.44924076
115aminoglycoside antibiotic metabolic process (GO:0030647)3.44432303
116serine family amino acid metabolic process (GO:0009069)3.42592119
117drug metabolic process (GO:0017144)3.42106417
118regulation of bile acid biosynthetic process (GO:0070857)3.41050065
119acute-phase response (GO:0006953)3.40208899
120protein-lipid complex assembly (GO:0065005)3.39963658
121epoxygenase P450 pathway (GO:0019373)3.36878094
122plasma lipoprotein particle organization (GO:0071827)3.36861798
123S-adenosylmethionine metabolic process (GO:0046500)3.36181659
124organic acid catabolic process (GO:0016054)3.35864486
125carboxylic acid catabolic process (GO:0046395)3.35864486
126alkaloid metabolic process (GO:0009820)3.33891464
127cofactor catabolic process (GO:0051187)3.32662652
128aldehyde catabolic process (GO:0046185)3.31569683
129ketone body metabolic process (GO:1902224)3.30801972
130lipoprotein metabolic process (GO:0042157)3.30059405
131positive regulation of fatty acid biosynthetic process (GO:0045723)3.15210938
132disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.15172412
133killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.15172412
134arginine catabolic process (GO:0006527)3.14906719
135xenobiotic metabolic process (GO:0006805)3.13725819
136response to mercury ion (GO:0046689)3.11289196
137primary alcohol metabolic process (GO:0034308)3.04852661
138regulation of blood coagulation (GO:0030193)3.02921203
139regulation of hemostasis (GO:1900046)3.02921203

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.32199289
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.19627983
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse6.11007834
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.89602381
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.54401144
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.33590230
7* CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.06787736
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.84167869
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.02891129
10CLOCK_20551151_ChIP-Seq_293T_Human2.27384404
11GATA1_22025678_ChIP-Seq_K562_Human2.22730459
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.2669512
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87361382
14TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.73330469
15RARG_19884340_ChIP-ChIP_MEFs_Mouse1.69003276
16FOXA2_19822575_ChIP-Seq_HepG2_Human1.65311928
17STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.56183869
18TRIM28_21343339_ChIP-Seq_HEK293_Human1.56094481
19HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.54089853
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.53199996
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.47838844
22PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.47174738
23IRF8_22096565_ChIP-ChIP_GC-B_Human1.38616451
24TP63_17297297_ChIP-ChIP_HaCaT_Human1.38172621
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.34312678
26Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.32323770
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.32081898
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.30589799
29HTT_18923047_ChIP-ChIP_STHdh_Human1.23941853
30HNF4A_19822575_ChIP-Seq_HepG2_Human1.23359726
31TP53_18474530_ChIP-ChIP_U2OS_Human1.23267624
32CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.22258574
33TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.20908547
34BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.19961044
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.19593862
36ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.19572014
37NRF2_20460467_ChIP-Seq_MEFs_Mouse1.12945636
38NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.12945636
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.12164344
40TCF4_18268006_ChIP-ChIP_LS174T_Human1.07999263
41RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.05049759
42ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04943592
43SALL4_18804426_ChIP-ChIP_XEN_Mouse1.01982710
44RXRA_24833708_ChIP-Seq_LIVER_Mouse0.98186109
45TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95343042
46SOX2_27498859_Chip-Seq_STOMACH_Mouse0.92389098
47TP53_16413492_ChIP-PET_HCT116_Human0.91526472
48* NFE2_27457419_Chip-Seq_LIVER_Mouse0.91309591
49NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.90908199
50* HNFA_21074721_ChIP-Seq_CACO-2_Human0.90821745
51GATA2_21666600_ChIP-Seq_HMVEC_Human0.90110002
52* EZH2_27294783_Chip-Seq_NPCs_Mouse0.89580553
53* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.88718407
54PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.86447025
55* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.84792512
56PPAR_26484153_Chip-Seq_NCI-H1993_Human0.83932366
57IRF8_27001747_Chip-Seq_BMDM_Mouse0.83725551
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.83188428
59GATA4_25053715_ChIP-Seq_YYC3_Human0.81070845
60* PHF8_20622853_ChIP-Seq_HELA_Human0.80738088
61ESR1_20079471_ChIP-ChIP_T-47D_Human0.80679073
62* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.80059748
63CJUN_26792858_Chip-Seq_BT549_Human0.79057667
64* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.78838281
65SOX9_24532713_ChIP-Seq_HFSC_Mouse0.78722199
66* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.78309745
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.78193098
68ESR1_15608294_ChIP-ChIP_MCF-7_Human0.75012311
69EGR1_19032775_ChIP-ChIP_M12_Human0.74873683
70* NFYA_21822215_ChIP-Seq_K562_Human0.74801063
71* GATA6_21074721_ChIP-Seq_CACO-2_Human0.73988798
72AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73805723
73CDX2_20551321_ChIP-Seq_CACO-2_Human0.73120385
74CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.72209472
75* SOX2_20726797_ChIP-Seq_SW620_Human0.71872011
76AUTS2_25519132_ChIP-Seq_293T-REX_Human0.71093633
77ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.70966960
78* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.70929049
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.70701089
80BP1_19119308_ChIP-ChIP_Hs578T_Human0.69512642
81FOXO3_23340844_ChIP-Seq_DLD1_Human0.68766214
82SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.68572092
83SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.68572092
84* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.67118719
85* ETV1_20927104_ChIP-Seq_GIST48_Human0.65713384
86FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.64623880
87NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.64298306
88GATA1_19941826_ChIP-Seq_K562_Human0.64208951
89BCAT_22108803_ChIP-Seq_LS180_Human0.63172974
90* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.62982559
91PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.62585450
92PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.62490667
93GATA2_19941826_ChIP-Seq_K562_Human0.61868412
94ZNF217_24962896_ChIP-Seq_MCF-7_Human0.61590470
95KAP1_22055183_ChIP-Seq_ESCs_Mouse0.60757603
96CDX2_19796622_ChIP-Seq_MESCs_Mouse0.59130008
97FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.58668330
98FOXA1_25552417_ChIP-Seq_VCAP_Human0.56611944
99ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.55927925
100EP300_21415370_ChIP-Seq_HL-1_Mouse0.55104881
101GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.54315353
102TBX20_22080862_ChIP-Seq_HEART_Mouse0.54014341
103TBX20_22328084_ChIP-Seq_HEART_Mouse0.54014341
104RARA_24833708_ChIP-Seq_LIVER_Mouse0.53215484
105RAD21_21589869_ChIP-Seq_MESCs_Mouse0.52793013
106STAT1_17558387_ChIP-Seq_HELA_Human0.51979402
107NFIB_24661679_ChIP-Seq_LUNG_Mouse0.51869452
108BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.51494690
109LXR_22292898_ChIP-Seq_THP-1_Human0.51390400
110PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.50592962
111ZNF263_19887448_ChIP-Seq_K562_Human0.49738973
112AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.48768456
113CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.48734058
114EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.48629769
115VDR_24787735_ChIP-Seq_THP-1_Human0.48378240
116SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.48356009
117CEBPB_22108803_ChIP-Seq_LS180_Human0.47919601
118PIAS1_25552417_ChIP-Seq_VCAP_Human0.47765054
119AR_20517297_ChIP-Seq_VCAP_Human0.47639182
120* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.47064469
121MYC_19915707_ChIP-ChIP_AK7_Human0.46446068
122TP63_23658742_ChIP-Seq_EP156T_Human0.45890806
123CDX2_22108803_ChIP-Seq_LS180_Human0.45357506
124PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.45297363
125ESET_19884257_ChIP-Seq_ESCs_Mouse0.43201295

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.35873083
2MP0005360_urolithiasis6.70861567
3MP0005085_abnormal_gallbladder_physiolo5.92103566
4MP0005365_abnormal_bile_salt5.49562710
5MP0008875_abnormal_xenobiotic_pharmacok4.51933195
6MP0003252_abnormal_bile_duct4.09644235
7MP0003806_abnormal_nucleotide_metabolis3.42007848
8MP0010329_abnormal_lipoprotein_level3.30257980
9MP0003195_calcinosis2.99857246
10MP0009840_abnormal_foam_cell2.99114107
11MP0003191_abnormal_cellular_cholesterol2.75219057
12MP0008438_abnormal_cutaneous_collagen2.62361666
13MP0005332_abnormal_amino_acid2.59773316
14MP0005083_abnormal_biliary_tract2.50698579
15MP0001666_abnormal_nutrient_absorption2.19475796
16MP0004019_abnormal_vitamin_homeostasis2.10268748
17MP0000609_abnormal_liver_physiology2.04727909
18MP0002138_abnormal_hepatobiliary_system2.02386695
19MP0010368_abnormal_lymphatic_system1.97910257
20MP0002118_abnormal_lipid_homeostasis1.96656734
21MP0005319_abnormal_enzyme/_coenzyme1.72170874
22MP0005275_abnormal_skin_tensile1.71735031
23MP0003868_abnormal_feces_composition1.50224340
24MP0005503_abnormal_tendon_morphology1.48669412
25MP0005584_abnormal_enzyme/coenzyme_acti1.45265832
26MP0003705_abnormal_hypodermis_morpholog1.41575314
27MP0001764_abnormal_homeostasis1.31223944
28MP0009697_abnormal_copulation1.28627285
29MP0003011_delayed_dark_adaptation1.25766034
30MP0002254_reproductive_system_inflammat1.20448251
31* MP0009643_abnormal_urine_homeostasis1.20242469
32MP0005647_abnormal_sex_gland1.17427809
33MP0009764_decreased_sensitivity_to1.16803408
34MP0003656_abnormal_erythrocyte_physiolo1.11811307
35MP0000598_abnormal_liver_morphology1.11016989
36MP0000604_amyloidosis1.05741806
37MP0009763_increased_sensitivity_to1.05329864
38MP0003690_abnormal_glial_cell1.05264174
39MP0003724_increased_susceptibility_to1.03250620
40MP0005670_abnormal_white_adipose0.98239897
41MP0003186_abnormal_redox_activity0.97074044
42MP0005257_abnormal_intraocular_pressure0.97000720
43MP0002132_abnormal_respiratory_system0.94802025
44MP0006082_CNS_inflammation0.94650701
45* MP0008469_abnormal_protein_level0.94645139
46MP0001661_extended_life_span0.92872158
47MP0003566_abnormal_cell_adhesion0.91448994
48MP0005451_abnormal_body_composition0.88382797
49MP0003950_abnormal_plasma_membrane0.85113086
50* MP0009642_abnormal_blood_homeostasis0.84689884
51MP0003075_altered_response_to0.84151221
52MP0005636_abnormal_mineral_homeostasis0.83848286
53MP0004130_abnormal_muscle_cell0.82645377
54MP0004883_abnormal_blood_vessel0.81405443
55MP0005058_abnormal_lysosome_morphology0.81152293
56MP0005464_abnormal_platelet_physiology0.81012466
57MP0005084_abnormal_gallbladder_morpholo0.77239200
58MP0002060_abnormal_skin_morphology0.75830737
59MP0002282_abnormal_trachea_morphology0.75529447
60MP0001756_abnormal_urination0.74788462
61MP0003436_decreased_susceptibility_to0.72656553
62MP0005220_abnormal_exocrine_pancreas0.72259163
63MP0000751_myopathy0.72205877
64MP0009053_abnormal_anal_canal0.71217753
65MP0002933_joint_inflammation0.70733870
66MP0005376_homeostasis/metabolism_phenot0.70050360
67MP0005334_abnormal_fat_pad0.69341553
68MP0002928_abnormal_bile_duct0.68801593
69MP0000249_abnormal_blood_vessel0.68644986
70MP0000639_abnormal_adrenal_gland0.68395814
71MP0002971_abnormal_brown_adipose0.67137364
72MP0009384_cardiac_valve_regurgitation0.67129918
73MP0005164_abnormal_response_to0.66666039
74MP0002295_abnormal_pulmonary_circulatio0.66033699
75MP0002128_abnormal_blood_circulation0.65626508
76MP0005166_decreased_susceptibility_to0.64965004
77MP0005167_abnormal_blood-brain_barrier0.64631844
78MP0009765_abnormal_xenobiotic_induced0.63978544
79MP0005165_increased_susceptibility_to0.63909651
80MP0005023_abnormal_wound_healing0.63505392
81MP0001879_abnormal_lymphatic_vessel0.63340202
82MP0003828_pulmonary_edema0.63198167
83MP0006138_congestive_heart_failure0.62884089
84MP0000767_abnormal_smooth_muscle0.62572755
85MP0002078_abnormal_glucose_homeostasis0.61633050
86MP0003279_aneurysm0.61477598
87MP0002168_other_aberrant_phenotype0.60861137
88MP0001533_abnormal_skeleton_physiology0.60228753
89* MP0002136_abnormal_kidney_physiology0.59996986
90MP0009780_abnormal_chondrocyte_physiolo0.57647215
91MP0001243_abnormal_dermal_layer0.56923457
92MP0005535_abnormal_body_temperature0.55689466
93MP0005408_hypopigmentation0.54803471
94MP0004272_abnormal_basement_membrane0.54537244
95MP0002876_abnormal_thyroid_physiology0.54361695
96MP0001542_abnormal_bone_strength0.54272551
97MP0008775_abnormal_heart_ventricle0.53782349
98MP0000467_abnormal_esophagus_morphology0.53447123
99MP0008004_abnormal_stomach_pH0.52762974
100MP0005595_abnormal_vascular_smooth0.52742951
101MP0000230_abnormal_systemic_arterial0.52684210
102MP0003638_abnormal_response/metabolism_0.50155688
103MP0001851_eye_inflammation0.49920216
104MP0002332_abnormal_exercise_endurance0.49818291
105MP0005395_other_phenotype0.49661397
106MP0002896_abnormal_bone_mineralization0.49058325
107MP0005187_abnormal_penis_morphology0.48580437
108MP0003300_gastrointestinal_ulcer0.47409787
109MP0001958_emphysema0.47137833
110MP0004782_abnormal_surfactant_physiolog0.46151979
111MP0002108_abnormal_muscle_morphology0.45808256
112MP0002837_dystrophic_cardiac_calcinosis0.45259180
113MP0005666_abnormal_adipose_tissue0.45005983
114* MP0001845_abnormal_inflammatory_respons0.44074865
115MP0001915_intracranial_hemorrhage0.43533789
116MP0000343_altered_response_to0.43058185
117MP0006054_spinal_hemorrhage0.42752446
118MP0008873_increased_physiological_sensi0.42705217
119MP0009115_abnormal_fat_cell0.42537674
120MP0008874_decreased_physiological_sensi0.42217017

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.08516817
2* Complement deficiency (HP:0004431)6.78032401
3Intrahepatic cholestasis (HP:0001406)6.57273783
4Abnormality of aromatic amino acid family metabolism (HP:0004338)6.23789634
5Prolonged partial thromboplastin time (HP:0003645)6.14551701
6Abnormality of monocarboxylic acid metabolism (HP:0010996)5.97730485
7Xanthomatosis (HP:0000991)5.91626473
8Systemic lupus erythematosus (HP:0002725)5.49718853
9Hypobetalipoproteinemia (HP:0003563)5.45433900
10Hyperlipoproteinemia (HP:0010980)5.02921646
11* Abnormality of complement system (HP:0005339)4.98038419
12Joint hemorrhage (HP:0005261)4.89711288
13Abnormality of the common coagulation pathway (HP:0010990)4.62274521
14Hypolipoproteinemia (HP:0010981)4.34104763
15Epidermoid cyst (HP:0200040)4.24938698
16Hyperammonemia (HP:0001987)4.10115274
17Hypoalphalipoproteinemia (HP:0003233)4.04678389
18Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.03889549
19Abnormality of glutamine family amino acid metabolism (HP:0010902)3.95756659
20Abnormality of methionine metabolism (HP:0010901)3.83944650
21Abnormality of sulfur amino acid metabolism (HP:0004339)3.81387925
22Hyperglycinemia (HP:0002154)3.77753753
23Ketosis (HP:0001946)3.75480823
24Abnormality of aspartate family amino acid metabolism (HP:0010899)3.74532235
25Abnormality of the intrinsic pathway (HP:0010989)3.71614179
26Myocardial infarction (HP:0001658)3.70744258
27Fat malabsorption (HP:0002630)3.68214876
28* Glomerulonephritis (HP:0000099)3.63067621
29Hypoglycemic coma (HP:0001325)3.50940304
30Hyperglycinuria (HP:0003108)3.49313452
31Hypercholesterolemia (HP:0003124)3.37571001
32Abnormality of serine family amino acid metabolism (HP:0010894)3.37496918
33Abnormality of glycine metabolism (HP:0010895)3.37496918
34Conjugated hyperbilirubinemia (HP:0002908)3.31587336
35Abnormality of pyrimidine metabolism (HP:0004353)3.30326227
36Spontaneous abortion (HP:0005268)3.19251745
37Skin nodule (HP:0200036)3.18193013
38Hepatocellular carcinoma (HP:0001402)3.12375298
39Mitral stenosis (HP:0001718)3.02129275
40Abnormality of fatty-acid metabolism (HP:0004359)3.00200460
41Amyloidosis (HP:0011034)2.90158500
42Hyperbilirubinemia (HP:0002904)2.87758293
43Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.83468445
44Delayed CNS myelination (HP:0002188)2.80405146
45Ketoacidosis (HP:0001993)2.80299444
46Recurrent gram-negative bacterial infections (HP:0005420)2.78735664
47Abnormality of nucleobase metabolism (HP:0010932)2.75978951
48Vascular calcification (HP:0004934)2.72864592
49Steatorrhea (HP:0002570)2.69927765
50Abnormal delivery (HP:0001787)2.67718218
51Premature rupture of membranes (HP:0001788)2.64756579
52Cardiovascular calcification (HP:0011915)2.63144267
53Abnormality of serum amino acid levels (HP:0003112)2.55146336
54Aortic dissection (HP:0002647)2.52842593
55* Nephritis (HP:0000123)2.50552204
56Esophageal varix (HP:0002040)2.49276467
57Abnormality of purine metabolism (HP:0004352)2.48805313
58Hypochromic microcytic anemia (HP:0004840)2.39536103
59Purpura (HP:0000979)2.36089952
60Metabolic acidosis (HP:0001942)2.34739144
61Gingival bleeding (HP:0000225)2.31708817
62Vascular tortuosity (HP:0004948)2.27841526
63Aortic aneurysm (HP:0004942)2.27625791
64Abnormality of dicarboxylic acid metabolism (HP:0010995)2.22831635
65Dicarboxylic aciduria (HP:0003215)2.22831635
66Osteomalacia (HP:0002749)2.21919121
67Hypoglycemic seizures (HP:0002173)2.17483370
68Thrombophlebitis (HP:0004418)2.16516497
69Hypophosphatemic rickets (HP:0004912)2.16024057
70Hemorrhage of the eye (HP:0011885)2.13342008
71Arterial tortuosity (HP:0005116)2.11487280
72Gout (HP:0001997)2.10728932
73Menorrhagia (HP:0000132)2.06909534
74Acanthocytosis (HP:0001927)2.06349670
75Peritonitis (HP:0002586)2.06095928
76Abnormality of proline metabolism (HP:0010907)2.05457593
77Hydroxyprolinuria (HP:0003080)2.05457593
78Spastic diplegia (HP:0001264)2.04584236
79Wrist flexion contracture (HP:0001239)2.03897199
80Lethargy (HP:0001254)2.03681729
81Malnutrition (HP:0004395)2.03190478
82Abnormal gallbladder morphology (HP:0012437)2.02115152
83Abnormality of iron homeostasis (HP:0011031)2.01885467
84Sensorimotor neuropathy (HP:0007141)2.01303156
85Joint swelling (HP:0001386)2.00265372
86Abnormal cartilage morphology (HP:0002763)1.99638267
87Neonatal onset (HP:0003623)1.98993862
88Cholelithiasis (HP:0001081)1.97926863
89Irritability (HP:0000737)1.97759649
90Arthropathy (HP:0003040)1.95425157
91Pancreatitis (HP:0001733)1.95142381
92Rickets (HP:0002748)1.91314465
93Abnormality of transition element cation homeostasis (HP:0011030)1.90404730
94Generalized aminoaciduria (HP:0002909)1.88957263
95Polycythemia (HP:0001901)1.87265487
96Vertebral compression fractures (HP:0002953)1.87122728
97Enlarged kidneys (HP:0000105)1.85625599
98Epistaxis (HP:0000421)1.82789717
99Abnormal gallbladder physiology (HP:0012438)1.82194460
100Cholecystitis (HP:0001082)1.82194460
101Stroke (HP:0001297)1.81623845
102Spontaneous hematomas (HP:0007420)1.81031628
103Protrusio acetabuli (HP:0003179)1.80578391
104Vomiting (HP:0002013)1.79711622
105Pulmonary embolism (HP:0002204)1.78206447
106Fair hair (HP:0002286)1.78048818
107Late onset (HP:0003584)1.77571939
108Elevated alkaline phosphatase (HP:0003155)1.76066134
109Abnormality of the Achilles tendon (HP:0005109)1.75183971
110Increased serum ferritin (HP:0003281)1.73409697
111Abnormal enzyme/coenzyme activity (HP:0012379)1.72764150
112Hyperinsulinemic hypoglycemia (HP:0000825)1.69785379
113Broad metatarsal (HP:0001783)1.69181781
114Alkalosis (HP:0001948)1.69024116
115Striae distensae (HP:0001065)1.68094559
116Osteolytic defects of the phalanges of the hand (HP:0009771)1.65858041
117Osteolytic defects of the hand bones (HP:0009699)1.65858041
118Axonal loss (HP:0003447)1.64802667
119Soft skin (HP:0000977)1.64689593
120Abnormality of the gallbladder (HP:0005264)1.64504928
121Periodontitis (HP:0000704)1.64310844
122Cerebral palsy (HP:0100021)1.64135447
123Opisthotonus (HP:0002179)1.63680734
124Hyperglycemia (HP:0003074)1.62926532
125Mucopolysacchariduria (HP:0008155)1.60843426
126Urinary glycosaminoglycan excretion (HP:0003541)1.60843426
127Atrioventricular block (HP:0001678)1.59077528
128Abnormality of alkaline phosphatase activity (HP:0004379)1.58868293
129Blue sclerae (HP:0000592)1.57647784
130Cerebral aneurysm (HP:0004944)1.57495734
131Joint stiffness (HP:0001387)1.56730892
132Back pain (HP:0003418)1.56219272
133Abnormality of vitamin metabolism (HP:0100508)1.49126532
134Aneurysm (HP:0002617)1.48322638

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.53326620
2ERN14.19667907
3TGFBR23.63206969
4FGFR43.58900765
5SIK13.29812403
6INSRR2.70294630
7TYK22.39646720
8TAOK32.39242973
9NEK92.28009851
10MST1R2.17374322
11ERBB42.13572148
12LATS12.00441173
13TIE11.89794058
14TRPM71.80716778
15CAMK1D1.80524584
16DDR21.72223327
17PIK3CG1.67169905
18PKN21.65421185
19TRIB31.61227342
20FRK1.60483787
21JAK11.56334094
22FLT31.47587708
23MAPK151.47315732
24PTK61.46122556
25MAPK111.43870258
26NTRK11.42303188
27MAP3K141.39612290
28MAP2K41.37145166
29PDGFRA1.32646546
30KDR1.31654529
31EPHB11.26623615
32JAK21.26020225
33CAMK1G1.24159621
34FGFR21.22519831
35CSK1.18654815
36PDK21.17953952
37EPHA31.17554981
38DAPK21.16901844
39PRKAA21.16793973
40MYLK1.15095022
41MAPKAPK31.14441415
42MAP3K71.13783231
43MAP3K21.10582525
44RIPK11.08983161
45TBK11.08291027
46FGFR31.08095889
47GRK71.06161318
48MAPK121.00902612
49ABL20.96380311
50MET0.96205905
51CDC42BPA0.95231552
52SGK30.93985891
53IRAK30.90659843
54MAPK70.90349504
55LATS20.87556433
56CSF1R0.87097428
57PINK10.86284402
58GSK3A0.83302715
59STK38L0.78660248
60MAP2K30.78149874
61MAPK40.77377137
62EEF2K0.76804759
63IKBKE0.76618712
64MUSK0.75610376
65CAMK40.74719121
66JAK30.73368785
67SGK20.73333196
68ERBB20.73055872
69EIF2AK30.72141392
70CDK60.71507284
71IGF1R0.67776192
72PRPF4B0.67311785
73PRKG20.67160287
74PRKCZ0.66752277
75ZAP700.66462615
76TTN0.65685007
77FER0.65617575
78TGFBR10.63743216
79ICK0.63385518
80KIT0.60227687
81AKT30.59530244
82PRKACG0.58638352
83OBSCN0.56202689
84MAP2K10.54659751
85MAP3K30.52731926
86CAMK2G0.52622493
87MOS0.52350643
88PRKAA10.52309865
89PKN10.51835273
90MAP3K10.51603453
91IKBKB0.50175746
92PIK3CA0.49872436
93MAP3K60.49858374
94LMTK20.49541014
95PAK40.49395968
96PRKG10.48480260
97CHUK0.47805414
98SCYL20.47479941
99PAK20.47467170
100SRC0.47032659
101BLK0.46778689
102PDPK10.44353584
103EGFR0.43952664
104MAPKAPK50.43770556
105PRKCH0.43299251
106SGK2230.43169034
107SGK4940.43169034
108STK30.42688059
109PTK20.42496655
110NTRK30.41847775
111PRKD10.41632718
112TEC0.41568069
113STK380.41040556
114GRK10.40709813
115DYRK1B0.40201935
116IRAK10.39333629
117MAP3K120.38774885
118ABL10.38679666
119PDGFRB0.37174271
120MAP3K100.36324459
121MAP2K20.35368336
122RET0.34717004
123PRKCE0.34292650
124EPHA20.33945837
125EPHB20.33652455
126NUAK10.33565501
127MAPK30.33061710
128ADRBK10.31989923
129ACVR1B0.31587181
130PRKCQ0.30820095
131PDK10.30777824
132IRAK40.27408066
133MTOR0.26756368
134NLK0.25600456

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.42895684
2Nitrogen metabolism_Homo sapiens_hsa009103.71036311
3* Complement and coagulation cascades_Homo sapiens_hsa046103.26477692
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.26169657
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.17257621
6Arginine biosynthesis_Homo sapiens_hsa002202.92151838
7Tryptophan metabolism_Homo sapiens_hsa003802.64692737
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.56019369
9* Staphylococcus aureus infection_Homo sapiens_hsa051502.51146017
10Fatty acid degradation_Homo sapiens_hsa000712.47462930
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.41212472
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35190021
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.25095925
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.24863142
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.11439679
16Steroid hormone biosynthesis_Homo sapiens_hsa001402.00157307
17Peroxisome_Homo sapiens_hsa041461.96219262
18Butanoate metabolism_Homo sapiens_hsa006501.94534488
19PPAR signaling pathway_Homo sapiens_hsa033201.94193431
20Chemical carcinogenesis_Homo sapiens_hsa052041.92068441
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.89760787
22Propanoate metabolism_Homo sapiens_hsa006401.89276925
23Caffeine metabolism_Homo sapiens_hsa002321.82147843
24Histidine metabolism_Homo sapiens_hsa003401.80748483
25Fatty acid metabolism_Homo sapiens_hsa012121.80705050
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.78687766
27Retinol metabolism_Homo sapiens_hsa008301.72848052
28beta-Alanine metabolism_Homo sapiens_hsa004101.69887203
29Drug metabolism - other enzymes_Homo sapiens_hsa009831.57620849
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.55551344
31Bile secretion_Homo sapiens_hsa049761.48866387
32Phenylalanine metabolism_Homo sapiens_hsa003601.47791606
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.39405746
34Selenocompound metabolism_Homo sapiens_hsa004501.39029199
35Starch and sucrose metabolism_Homo sapiens_hsa005001.37615140
36ABC transporters_Homo sapiens_hsa020101.36404800
37Tyrosine metabolism_Homo sapiens_hsa003501.33212716
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32049257
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30884415
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.24040948
41Fatty acid elongation_Homo sapiens_hsa000621.22762832
42Pyruvate metabolism_Homo sapiens_hsa006201.15493728
43Fat digestion and absorption_Homo sapiens_hsa049751.08410748
44Sulfur metabolism_Homo sapiens_hsa009201.06851779
45Cyanoamino acid metabolism_Homo sapiens_hsa004601.04509823
46Vitamin digestion and absorption_Homo sapiens_hsa049771.02747435
47Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99273891
48Cysteine and methionine metabolism_Homo sapiens_hsa002700.98543288
49Steroid biosynthesis_Homo sapiens_hsa001000.97599643
50Carbon metabolism_Homo sapiens_hsa012000.93955943
51Biosynthesis of amino acids_Homo sapiens_hsa012300.93476817
52Lysine degradation_Homo sapiens_hsa003100.93475249
53Folate biosynthesis_Homo sapiens_hsa007900.93156730
54Arginine and proline metabolism_Homo sapiens_hsa003300.86772501
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.85132913
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.83067923
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79346222
58Vitamin B6 metabolism_Homo sapiens_hsa007500.78379500
59Prion diseases_Homo sapiens_hsa050200.71483679
60Glutathione metabolism_Homo sapiens_hsa004800.66475198
61Glycerolipid metabolism_Homo sapiens_hsa005610.59831350
62Sulfur relay system_Homo sapiens_hsa041220.53841588
63Fatty acid biosynthesis_Homo sapiens_hsa000610.50683838
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.49273300
65Glycosaminoglycan degradation_Homo sapiens_hsa005310.44879931
66One carbon pool by folate_Homo sapiens_hsa006700.41904790
67Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38870675
68Pentose phosphate pathway_Homo sapiens_hsa000300.37267542
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.35334754
70Metabolic pathways_Homo sapiens_hsa011000.34022605
71Insulin resistance_Homo sapiens_hsa049310.32017756
72Adipocytokine signaling pathway_Homo sapiens_hsa049200.29662059
73Galactose metabolism_Homo sapiens_hsa000520.21441500
74Ovarian steroidogenesis_Homo sapiens_hsa049130.18172199
75Systemic lupus erythematosus_Homo sapiens_hsa053220.17748703
76alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15201542
77Arachidonic acid metabolism_Homo sapiens_hsa005900.15081461
78Pertussis_Homo sapiens_hsa051330.15065395
79Focal adhesion_Homo sapiens_hsa045100.14272052
80Lysosome_Homo sapiens_hsa041420.13023277
81Linoleic acid metabolism_Homo sapiens_hsa005910.11745770
82Other glycan degradation_Homo sapiens_hsa005110.11224722
83Glycerophospholipid metabolism_Homo sapiens_hsa005640.08966334
84Amoebiasis_Homo sapiens_hsa051460.08096397
85Glucagon signaling pathway_Homo sapiens_hsa049220.07856202
86Fructose and mannose metabolism_Homo sapiens_hsa000510.06857131
87Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.04257802
88Vascular smooth muscle contraction_Homo sapiens_hsa042700.03907634
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.03054284
90AMPK signaling pathway_Homo sapiens_hsa041520.02332477
91Circadian rhythm_Homo sapiens_hsa047100.00814691
92ECM-receptor interaction_Homo sapiens_hsa045120.00734422
93Mineral absorption_Homo sapiens_hsa04978-0.1598891
94Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1541614
95Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060-0.1504389
96Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1348998
97Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1118701
98Hepatitis C_Homo sapiens_hsa05160-0.1110348
99Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532-0.1082138
100Insulin signaling pathway_Homo sapiens_hsa04910-0.1038702
101Renin-angiotensin system_Homo sapiens_hsa04614-0.0961678
102African trypanosomiasis_Homo sapiens_hsa05143-0.0906329
103Platelet activation_Homo sapiens_hsa04611-0.0574870
104Serotonergic synapse_Homo sapiens_hsa04726-0.0557105
105PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0536831
106AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933-0.0497872
107Protein digestion and absorption_Homo sapiens_hsa04974-0.0302270
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410-0.0192360
109Sphingolipid metabolism_Homo sapiens_hsa00600-0.0071705
110Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0045377
111Malaria_Homo sapiens_hsa05144-0.0037864

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