CFHR4

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 complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)9.83838333
2drug catabolic process (GO:0042737)9.47196465
3regulation of protein activation cascade (GO:2000257)9.19999271
4regulation of complement activation (GO:0030449)8.72485903
5L-phenylalanine catabolic process (GO:0006559)7.95512524
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.95512524
7regulation of fibrinolysis (GO:0051917)7.70004814
8glyoxylate metabolic process (GO:0046487)7.48804341
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.30264370
10L-phenylalanine metabolic process (GO:0006558)7.30264370
11negative regulation of fibrinolysis (GO:0051918)7.17068704
12urea metabolic process (GO:0019627)6.80782235
13ethanol oxidation (GO:0006069)6.54313751
14drug metabolic process (GO:0017144)6.50609651
15opsonization (GO:0008228)6.38497120
16peptidyl-glutamic acid carboxylation (GO:0017187)6.37408937
17protein carboxylation (GO:0018214)6.37408937
18cellular glucuronidation (GO:0052695)6.34940780
19oxidative demethylation (GO:0070989)6.21575409
20nitrogen cycle metabolic process (GO:0071941)6.18456433
21protein activation cascade (GO:0072376)6.10717049
22complement activation (GO:0006956)6.10055310
23glucuronate metabolic process (GO:0019585)6.00953238
24uronic acid metabolic process (GO:0006063)6.00953238
25imidazole-containing compound metabolic process (GO:0052803)6.00615602
26aromatic amino acid family catabolic process (GO:0009074)6.00157779
27bile acid biosynthetic process (GO:0006699)5.90434212
28blood coagulation, intrinsic pathway (GO:0007597)5.85539105
29complement activation, classical pathway (GO:0006958)5.77967653
30fibrinolysis (GO:0042730)5.71680248
31serine family amino acid catabolic process (GO:0009071)5.68553526
32positive regulation of heterotypic cell-cell adhesion (GO:0034116)5.68188665
33urea cycle (GO:0000050)5.66232042
34negative regulation of protein activation cascade (GO:2000258)5.61061624
35regulation of triglyceride catabolic process (GO:0010896)5.59960315
36regulation of humoral immune response (GO:0002920)5.53037195
37triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.38545072
38disruption of cells of other organism involved in symbiotic interaction (GO:0051818)5.33709649
39killing of cells in other organism involved in symbiotic interaction (GO:0051883)5.33709649
40acute-phase response (GO:0006953)5.33637735
41cytolysis (GO:0019835)5.27593993
42bile acid metabolic process (GO:0008206)5.26451159
43ethanol metabolic process (GO:0006067)5.21214920
44bile acid and bile salt transport (GO:0015721)4.92557589
45glycine metabolic process (GO:0006544)4.87832510
46tyrosine metabolic process (GO:0006570)4.85239679
47S-adenosylmethionine metabolic process (GO:0046500)4.80934665
48regulation of plasminogen activation (GO:0010755)4.74849886
49negative regulation of cholesterol transport (GO:0032375)4.67462555
50negative regulation of sterol transport (GO:0032372)4.67462555
51positive regulation of lipoprotein lipase activity (GO:0051006)4.64501977
52positive regulation of triglyceride lipase activity (GO:0061365)4.64501977
53phenylpropanoid metabolic process (GO:0009698)4.60784320
54glutamate metabolic process (GO:0006536)4.51935393
55negative regulation of blood coagulation (GO:0030195)4.45216843
56negative regulation of hemostasis (GO:1900047)4.45216843
57indolalkylamine catabolic process (GO:0046218)4.26509117
58tryptophan catabolic process (GO:0006569)4.26509117
59indole-containing compound catabolic process (GO:0042436)4.26509117
60flavonoid metabolic process (GO:0009812)4.24261616
61negative regulation of complement activation (GO:0045916)4.23529183
62triglyceride homeostasis (GO:0070328)4.21303601
63acylglycerol homeostasis (GO:0055090)4.21303601
64hormone catabolic process (GO:0042447)4.21147202
65negative regulation of wound healing (GO:0061045)4.09731273
66alpha-amino acid catabolic process (GO:1901606)4.04380474
67negative regulation of coagulation (GO:0050819)4.03246647
68protein-lipid complex remodeling (GO:0034368)3.96825463
69macromolecular complex remodeling (GO:0034367)3.96825463
70plasma lipoprotein particle remodeling (GO:0034369)3.96825463
71aromatic amino acid family metabolic process (GO:0009072)3.94535642
72amino-acid betaine metabolic process (GO:0006577)3.92647034
73alkaloid metabolic process (GO:0009820)3.89691580
74serine family amino acid metabolic process (GO:0009069)3.89442076
75regulation of acute inflammatory response (GO:0002673)3.88142420
76acute inflammatory response (GO:0002526)3.84412169
77regulation of apoptotic cell clearance (GO:2000425)3.73207542
78positive regulation of hemostasis (GO:1900048)3.71630157
79positive regulation of blood coagulation (GO:0030194)3.71630157
80cholesterol efflux (GO:0033344)3.67528023
81arginine metabolic process (GO:0006525)3.63428613
82tryptophan metabolic process (GO:0006568)3.62062254
83cellular ketone body metabolic process (GO:0046950)3.60708700
84sodium-independent organic anion transport (GO:0043252)3.59657733
85response to mercury ion (GO:0046689)3.51839553
86positive regulation of fatty acid biosynthetic process (GO:0045723)3.50391333
87serine family amino acid biosynthetic process (GO:0009070)3.48589767
88positive regulation of lipid catabolic process (GO:0050996)3.47634523
89xenobiotic metabolic process (GO:0006805)3.46628344
90high-density lipoprotein particle remodeling (GO:0034375)3.45926828
91phospholipid efflux (GO:0033700)3.45253687
92oxaloacetate metabolic process (GO:0006107)3.42728108
93cellular amino acid catabolic process (GO:0009063)3.42441710
94positive regulation of coagulation (GO:0050820)3.40182148
95cysteine metabolic process (GO:0006534)3.39199642
96negative regulation of humoral immune response (GO:0002921)3.34682930
97negative regulation of lipase activity (GO:0060192)3.33432439
98complement activation, alternative pathway (GO:0006957)11.0503313
99omega-hydroxylase P450 pathway (GO:0097267)10.2023797
100exogenous drug catabolic process (GO:0042738)10.1508919

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse7.26734300
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.93999974
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.79492040
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.76387225
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.69357277
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.16553833
7CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.94675509
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.11716843
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.99995460
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.54858767
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08187245
12HTT_18923047_ChIP-ChIP_STHdh_Human2.01293960
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.5641378
14* HNF4A_19822575_ChIP-Seq_HepG2_Human1.95468119
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.95404160
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.81186517
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66413206
18TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38324940
19BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.37185215
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.35916417
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.32809996
22AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.14750771
23ESR1_20079471_ChIP-ChIP_T-47D_Human1.14150657
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.11966997
25CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.10491583
26PHF8_20622853_ChIP-Seq_HELA_Human1.08152162
27HNFA_21074721_ChIP-Seq_CACO-2_Human1.05790568
28GATA1_22025678_ChIP-Seq_K562_Human1.05356839
29ESR1_15608294_ChIP-ChIP_MCF-7_Human1.04436431
30NFE2_27457419_Chip-Seq_LIVER_Mouse1.03711194
31STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.98523592
32PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.97557774
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95824670
34* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95168433
35STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95065689
36NFYA_21822215_ChIP-Seq_K562_Human0.93880596
37BCAT_22108803_ChIP-Seq_LS180_Human0.91894014
38ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90240611
39* GATA6_21074721_ChIP-Seq_CACO-2_Human0.90230815
40IRF1_19129219_ChIP-ChIP_H3396_Human0.87103199
41EZH2_27294783_Chip-Seq_NPCs_Mouse0.86813147
42* POU3F2_20337985_ChIP-ChIP_501MEL_Human0.82793111
43CBX2_22325352_ChIP-Seq_293T-Rex_Human0.82011570
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.81007245
45PIAS1_25552417_ChIP-Seq_VCAP_Human0.80046963
46SUZ12_27294783_Chip-Seq_NPCs_Mouse0.79960795
47KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78547853
48CBP_21632823_ChIP-Seq_H3396_Human0.78194113
49CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.75936386
50RXRA_24833708_ChIP-Seq_LIVER_Mouse0.75634278
51FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.74415482
52GATA4_25053715_ChIP-Seq_YYC3_Human0.74317731
53AR_20517297_ChIP-Seq_VCAP_Human0.73177516
54TP53_18474530_ChIP-ChIP_U2OS_Human0.72715314
55NFYB_21822215_ChIP-Seq_K562_Human0.71414726
56RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.70921653
57* ETV1_20927104_ChIP-Seq_GIST48_Human0.70208563
58FOXA1_25552417_ChIP-Seq_VCAP_Human0.67682073
59CRX_20693478_ChIP-Seq_RETINA_Mouse0.67367988
60SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.67251613
61* ER_23166858_ChIP-Seq_MCF-7_Human0.67201198
62FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.66713719
63PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.64720686
64OCT4_18555785_Chip-Seq_ESCs_Mouse0.64578602
65IRF8_22096565_ChIP-ChIP_GC-B_Human0.62877864
66SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.62034640
67OCT4_21477851_ChIP-Seq_ESCs_Mouse0.61177357
68CEBPB_22108803_ChIP-Seq_LS180_Human0.60609119
69TCF4_18268006_ChIP-ChIP_LS174T_Human0.60012334
70ETV2_25802403_ChIP-Seq_MESCs_Mouse0.59178202
71RBPJ_21746931_ChIP-Seq_IB4_Human0.58647764
72RUNX1_27457419_Chip-Seq_LIVER_Mouse0.57414470
73SOX2_21211035_ChIP-Seq_LN229_Human0.55831393
74ESRRB_18555785_Chip-Seq_ESCs_Mouse0.55716893
75ERG_20517297_ChIP-Seq_VCAP_Human0.55596773
76EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.55162326
77SMAD1_18555785_Chip-Seq_ESCs_Mouse0.54289663
78PU1_27457419_Chip-Seq_LIVER_Mouse0.53696652
79RAC3_21632823_ChIP-Seq_H3396_Human0.52815300
80NRF2_20460467_ChIP-Seq_MEFs_Mouse0.52593207
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.52593207
82GATA6_25053715_ChIP-Seq_YYC3_Human0.50982294
83* SPI1_20517297_ChIP-Seq_HL60_Human0.50655976
84SOX2_27498859_Chip-Seq_STOMACH_Mouse0.50632610
85SALL4_18804426_ChIP-ChIP_XEN_Mouse0.49858535
86KLF4_18555785_Chip-Seq_ESCs_Mouse0.49808622
87CDX2_22108803_ChIP-Seq_LS180_Human0.49643853
88MYC_19829295_ChIP-Seq_ESCs_Human0.49234220
89SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.49059164
90AUTS2_25519132_ChIP-Seq_293T-REX_Human0.48758345
91PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.48011813
92TAF2_19829295_ChIP-Seq_ESCs_Human0.47063930
93ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.46465372
94TBL1_22424771_ChIP-Seq_293T_Human0.46203970
95Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.44782271
96IGF1R_20145208_ChIP-Seq_DFB_Human0.44656428
97LXR_22292898_ChIP-Seq_THP-1_Human0.44588936
98SMC4_20622854_ChIP-Seq_HELA_Human0.44380987
99MYC_19915707_ChIP-ChIP_AK7_Human0.43722394
100P53_21459846_ChIP-Seq_SAOS-2_Human0.43638582

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system9.71810078
2MP0005085_abnormal_gallbladder_physiolo6.56366789
3MP0008875_abnormal_xenobiotic_pharmacok6.11221133
4MP0005365_abnormal_bile_salt5.88781144
5MP0005360_urolithiasis5.64455791
6MP0003195_calcinosis4.89289899
7MP0002138_abnormal_hepatobiliary_system4.68054924
8MP0003252_abnormal_bile_duct4.66584566
9MP0001666_abnormal_nutrient_absorption3.03176840
10MP0003191_abnormal_cellular_cholesterol2.92506183
11MP0003868_abnormal_feces_composition2.85615423
12MP0010329_abnormal_lipoprotein_level2.77859201
13MP0005332_abnormal_amino_acid2.45637493
14MP0009697_abnormal_copulation2.31537124
15MP0010368_abnormal_lymphatic_system2.26231386
16MP0000609_abnormal_liver_physiology1.98171382
17MP0003806_abnormal_nucleotide_metabolis1.91409917
18MP0005670_abnormal_white_adipose1.72632539
19MP0002118_abnormal_lipid_homeostasis1.71927100
20MP0009840_abnormal_foam_cell1.58848947
21MP0001764_abnormal_homeostasis1.48687070
22MP0001661_extended_life_span1.43829646
23MP0002876_abnormal_thyroid_physiology1.39838228
24MP0002132_abnormal_respiratory_system1.33074793
25MP0009053_abnormal_anal_canal1.31031963
26MP0004019_abnormal_vitamin_homeostasis1.20276323
27MP0009764_decreased_sensitivity_to1.18926980
28MP0005408_hypopigmentation1.16477707
29MP0005319_abnormal_enzyme/_coenzyme1.16137319
30MP0000598_abnormal_liver_morphology1.15679712
31MP0003656_abnormal_erythrocyte_physiolo1.12862747
32MP0005584_abnormal_enzyme/coenzyme_acti0.99808575
33MP0009763_increased_sensitivity_to0.98875541
34MP0002282_abnormal_trachea_morphology0.96555443
35MP0009643_abnormal_urine_homeostasis0.92087099
36MP0002971_abnormal_brown_adipose0.90730919
37MP0009642_abnormal_blood_homeostasis0.85207862
38MP0008469_abnormal_protein_level0.84820445
39MP0001915_intracranial_hemorrhage0.84605521
40MP0000604_amyloidosis0.83462808
41MP0005376_homeostasis/metabolism_phenot0.79916842
42MP0008872_abnormal_physiological_respon0.78734874
43MP0005187_abnormal_penis_morphology0.78651441
44MP0005451_abnormal_body_composition0.77748458
45MP0005395_other_phenotype0.75659855
46MP0003690_abnormal_glial_cell0.73692490
47MP0003186_abnormal_redox_activity0.73671873
48MP0005636_abnormal_mineral_homeostasis0.72876796
49MP0002249_abnormal_larynx_morphology0.72149733
50MP0005464_abnormal_platelet_physiology0.71411726
51MP0005266_abnormal_metabolism0.69147252
52MP0002168_other_aberrant_phenotype0.66400841
53MP0005023_abnormal_wound_healing0.63532786
54MP0005535_abnormal_body_temperature0.63487033
55MP0009785_altered_susceptibility_to0.62851911
56MP0002078_abnormal_glucose_homeostasis0.62154884
57MP0004130_abnormal_muscle_cell0.62009859
58MP0008874_decreased_physiological_sensi0.60972635
59MP0005334_abnormal_fat_pad0.60906218
60MP0009765_abnormal_xenobiotic_induced0.60286929
61MP0003879_abnormal_hair_cell0.58993779
62MP0002332_abnormal_exercise_endurance0.49710088
63MP0003011_delayed_dark_adaptation0.48920834
64MP0005166_decreased_susceptibility_to0.47228344
65MP0003638_abnormal_response/metabolism_0.44497166
66MP0001545_abnormal_hematopoietic_system0.43605202
67MP0005397_hematopoietic_system_phenotyp0.43605202
68MP0000467_abnormal_esophagus_morphology0.40175162
69MP0004782_abnormal_surfactant_physiolog0.39679209
70MP0002136_abnormal_kidney_physiology0.38426190
71MP0009115_abnormal_fat_cell0.36024625
72MP0000249_abnormal_blood_vessel0.36011349
73MP0005448_abnormal_energy_balance0.34547073
74MP0000639_abnormal_adrenal_gland0.34271719
75MP0005220_abnormal_exocrine_pancreas0.34170739
76MP0005647_abnormal_sex_gland0.32512347
77MP0006036_abnormal_mitochondrial_physio0.31812809
78MP0005083_abnormal_biliary_tract0.31728990
79MP0003705_abnormal_hypodermis_morpholog0.31360639
80MP0005164_abnormal_response_to0.31225369
81MP0003075_altered_response_to0.30921035
82MP0005666_abnormal_adipose_tissue0.27657321
83MP0002128_abnormal_blood_circulation0.27578614
84MP0004883_abnormal_blood_vessel0.27495660
85MP0003953_abnormal_hormone_level0.26522392
86MP0001851_eye_inflammation0.25183194
87MP0001845_abnormal_inflammatory_respons0.24523476
88MP0000566_synostosis0.20988691
89MP0002928_abnormal_bile_duct0.20969676
90MP0003633_abnormal_nervous_system0.20960175
91MP0001881_abnormal_mammary_gland0.20831457
92MP0002135_abnormal_kidney_morphology0.20493009
93MP0003959_abnormal_lean_body0.19614223
94MP0000920_abnormal_myelination0.18879998
95MP0002970_abnormal_white_adipose0.16929160
96MP0003632_abnormal_nervous_system0.16483165
97MP0008873_increased_physiological_sensi0.16391256
98MP0002295_abnormal_pulmonary_circulatio0.15992212
99MP0001944_abnormal_pancreas_morphology0.15340661
100MP0003631_nervous_system_phenotype0.15152097

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of complement system (HP:0005339)9.57656823
2Abnormality of monocarboxylic acid metabolism (HP:0010996)9.50890997
3Deep venous thrombosis (HP:0002625)8.91015624
4Prolonged partial thromboplastin time (HP:0003645)8.66020676
5Conjugated hyperbilirubinemia (HP:0002908)8.14587010
6Abnormality of aromatic amino acid family metabolism (HP:0004338)8.11618325
7Hypobetalipoproteinemia (HP:0003563)7.35613249
8Glomerulonephritis (HP:0000099)6.67312440
9Systemic lupus erythematosus (HP:0002725)6.52233717
10Joint hemorrhage (HP:0005261)6.13314758
11Intrahepatic cholestasis (HP:0001406)5.76341907
12Hyperlipoproteinemia (HP:0010980)5.74752952
13Spontaneous abortion (HP:0005268)5.74703492
14Abnormality of the common coagulation pathway (HP:0010990)5.54517790
15Recurrent gram-negative bacterial infections (HP:0005420)5.48819654
16Abnormality of pyrimidine metabolism (HP:0004353)4.96518781
17Xanthomatosis (HP:0000991)4.71261423
18Nephritis (HP:0000123)4.57211089
19Abnormality of the intrinsic pathway (HP:0010989)4.27695888
20Hypolipoproteinemia (HP:0010981)4.26213836
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.78118751
22Abnormality of methionine metabolism (HP:0010901)3.64238890
23Hypoalphalipoproteinemia (HP:0003233)3.60512280
24Gingival bleeding (HP:0000225)3.49776371
25Fat malabsorption (HP:0002630)3.24792441
26Hepatocellular carcinoma (HP:0001402)3.01667546
27Abnormality of glutamine family amino acid metabolism (HP:0010902)2.98306983
28Hyperammonemia (HP:0001987)2.95194280
29Thrombophlebitis (HP:0004418)2.94799754
30Hyperbilirubinemia (HP:0002904)2.88502475
31Hyperglycinemia (HP:0002154)2.82887038
32Neonatal hypoglycemia (HP:0001998)2.80693025
33Hypercholesterolemia (HP:0003124)2.75292626
34Abnormality of aspartate family amino acid metabolism (HP:0010899)2.72658374
35Delayed CNS myelination (HP:0002188)2.68092443
36Abnormality of nucleobase metabolism (HP:0010932)2.67344373
37Fair hair (HP:0002286)2.61361715
38Epidermoid cyst (HP:0200040)2.59236181
39Abnormality of sulfur amino acid metabolism (HP:0004339)2.55455351
40Generalized aminoaciduria (HP:0002909)2.50922780
41Mitral stenosis (HP:0001718)2.50400118
42Cholelithiasis (HP:0001081)2.45411327
43Abnormality of glycine metabolism (HP:0010895)2.42498599
44Abnormality of serine family amino acid metabolism (HP:0010894)2.42498599
45Osteomalacia (HP:0002749)2.40439511
46Purpura (HP:0000979)2.36949603
47Joint swelling (HP:0001386)2.34588888
48Hemorrhage of the eye (HP:0011885)2.30709558
49Vascular calcification (HP:0004934)2.28683953
50Abnormality of serum amino acid levels (HP:0003112)2.27840624
51Abnormal gallbladder morphology (HP:0012437)2.26903246
52Pulmonary embolism (HP:0002204)2.24196386
53Rickets (HP:0002748)2.16253548
54Steatorrhea (HP:0002570)2.13728100
55Elevated alkaline phosphatase (HP:0003155)2.06712226
56Menorrhagia (HP:0000132)2.02436525
57Cardiovascular calcification (HP:0011915)2.01883319
58Cholecystitis (HP:0001082)2.00606629
59Abnormal gallbladder physiology (HP:0012438)2.00606629
60Complement deficiency (HP:0004431)11.9501414
61Abnormal delivery (HP:0001787)1.96822240
62Increased serum ferritin (HP:0003281)1.96769705
63Hyperglycinuria (HP:0003108)1.93396665
64Epistaxis (HP:0000421)1.91131949
65Abnormality of iron homeostasis (HP:0011031)1.91087726
66Abnormal enzyme/coenzyme activity (HP:0012379)1.89828717
67Gout (HP:0001997)1.88348141
68Metabolic acidosis (HP:0001942)1.87470455
69Abnormality of alkaline phosphatase activity (HP:0004379)1.87304085
70Ketosis (HP:0001946)1.84937679
71Generalized hypopigmentation of hair (HP:0011358)1.84496904
72Cerebral palsy (HP:0100021)1.80958253
73Amyloidosis (HP:0011034)1.77319229
74Abnormality of transition element cation homeostasis (HP:0011030)1.75810953
75Reduced antithrombin III activity (HP:0001976)1.75122199
76Myocardial infarction (HP:0001658)1.72485997
77Arthropathy (HP:0003040)1.71703093
78Enlarged kidneys (HP:0000105)1.71358333
79Gangrene (HP:0100758)1.68343608
80Abnormality of vitamin metabolism (HP:0100508)1.68111986
81Hyperphosphaturia (HP:0003109)1.66775214
82Blue irides (HP:0000635)1.62989175
83Abnormality of purine metabolism (HP:0004352)1.62306102
84Increased serum pyruvate (HP:0003542)1.61835325
85Abnormality of the gallbladder (HP:0005264)1.60669695
86Irritability (HP:0000737)1.59973707
87Abnormality of the Achilles tendon (HP:0005109)1.59425755
88Skin nodule (HP:0200036)1.57681316
89Increased mean platelet volume (HP:0011877)1.56730887
90Poikilocytosis (HP:0004447)1.54992812
91Bile duct proliferation (HP:0001408)1.54618081
92Abnormal biliary tract physiology (HP:0012439)1.54618081
93Hematuria (HP:0000790)1.54183503
94Pancreatitis (HP:0001733)1.51835307
95Glycosuria (HP:0003076)1.46835840
96Abnormality of urine glucose concentration (HP:0011016)1.46835840
97Reticulocytosis (HP:0001923)1.45104797
98Atrioventricular block (HP:0001678)1.44133916
99Hypophosphatemic rickets (HP:0004912)1.43509855
100Abnormal platelet volume (HP:0011876)1.40761226

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PIK3CG5.67171227
2ERN14.58786595
3FGFR43.83545362
4EPHA33.16150928
5SIK12.94241193
6TRIB32.91685805
7TYK22.58189208
8TAOK32.50366837
9PRKACG2.31468795
10RIPK12.28160075
11NTRK32.14914044
12BCKDK2.12977880
13PIK3CA2.06319874
14PRKAA22.03336980
15MAP2K41.79409935
16MAPK111.70336819
17FGFR31.66879762
18EPHB11.62213840
19MST1R1.60363183
20JAK11.57971534
21MAP3K21.52617886
22PDK21.48254541
23FER1.47834742
24NLK1.47001915
25ICK1.44297627
26PRPF4B1.35674045
27IGF1R1.35568928
28CAMKK21.29343644
29TNK21.27978194
30BRSK21.23913157
31MET1.18421365
32ERBB21.16557711
33NEK91.15342824
34PDPK11.13604859
35MAP3K11.11043076
36PRKCG1.10932044
37JAK21.07525478
38PRKG11.04051564
39RET1.01502159
40TBK11.00818760
41TIE10.99565654
42KSR20.97789168
43AKT30.96656322
44KDR0.93787178
45PRKAA10.90729237
46INSRR0.89683141
47PKN20.86411908
48PDK10.85168528
49FRK0.84415554
50PRKACA0.81645886
51MAP3K30.81043598
52PRKCZ0.80932964
53ZAP700.80664831
54MAP3K60.77873679
55ERBB40.76915992
56CSNK1E0.76408158
57PRKACB0.72563919
58SCYL20.71452868
59BLK0.70589468
60ABL20.68421160
61MAPK120.68150901
62NTRK10.67833766
63FLT30.63955773
64CSF1R0.59739668
65PRKCB0.58815386
66EIF2AK10.58515868
67MAPK70.58282844
68RPS6KA30.57318262
69IRAK10.55751151
70MAPK40.54940150
71MAP3K130.54402298
72PINK10.53172560
73CDK60.53029761
74CAMKK10.51062584
75CSNK1D0.50254601
76CSNK2A10.49142259
77RAF10.48897328
78TGFBR20.48236612
79PRKCA0.46360672
80SRC0.45327052
81EPHA40.44265629
82DAPK20.42736301
83NEK10.41971457
84STK160.41178872
85MTOR0.40054674
86WNK30.38679979
87SGK10.38117425
88MYLK0.35946070
89AKT20.35752783
90MAPK30.35459456
91GSK3A0.34545531
92CSNK2A20.34501171
93PDGFRA0.34376051
94CAMK1D0.33173183
95EIF2AK30.31594901
96CDK40.30932764
97CAMK2G0.28829115
98TRPM70.28543160
99MAPK100.28330250
100STK380.27834302

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.70820470
2Complement and coagulation cascades_Homo sapiens_hsa046104.39109575
3Caffeine metabolism_Homo sapiens_hsa002323.87440966
4Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.54140389
5Primary bile acid biosynthesis_Homo sapiens_hsa001203.52385159
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.47970857
7Retinol metabolism_Homo sapiens_hsa008303.43485687
8Chemical carcinogenesis_Homo sapiens_hsa052042.85903074
9Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.81222022
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.69585162
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.63881990
12Steroid hormone biosynthesis_Homo sapiens_hsa001402.53990387
13Arginine biosynthesis_Homo sapiens_hsa002202.50057057
14Drug metabolism - other enzymes_Homo sapiens_hsa009832.48969073
15Phenylalanine metabolism_Homo sapiens_hsa003602.43446270
16Tyrosine metabolism_Homo sapiens_hsa003502.41517437
17Fatty acid degradation_Homo sapiens_hsa000712.41257133
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.05657551
19Linoleic acid metabolism_Homo sapiens_hsa005912.00918675
20Histidine metabolism_Homo sapiens_hsa003402.00592083
21Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.91276531
22Tryptophan metabolism_Homo sapiens_hsa003801.79836649
23Butanoate metabolism_Homo sapiens_hsa006501.74160963
24Prion diseases_Homo sapiens_hsa050201.73058990
25Bile secretion_Homo sapiens_hsa049761.70944320
26Staphylococcus aureus infection_Homo sapiens_hsa051501.67789326
27Vitamin B6 metabolism_Homo sapiens_hsa007501.67689305
28Starch and sucrose metabolism_Homo sapiens_hsa005001.61156848
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49794572
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.48291757
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.39504433
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.34733334
33Cyanoamino acid metabolism_Homo sapiens_hsa004601.29877704
34PPAR signaling pathway_Homo sapiens_hsa033201.29303826
35Arachidonic acid metabolism_Homo sapiens_hsa005901.21832720
36Biosynthesis of amino acids_Homo sapiens_hsa012301.20684255
37beta-Alanine metabolism_Homo sapiens_hsa004101.11466937
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.09607864
39Peroxisome_Homo sapiens_hsa041461.09085166
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07492725
41Pyruvate metabolism_Homo sapiens_hsa006201.02313242
42ABC transporters_Homo sapiens_hsa020100.95940602
43One carbon pool by folate_Homo sapiens_hsa006700.95739395
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.88679264
45Carbon metabolism_Homo sapiens_hsa012000.81350203
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.80593509
47Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.78862259
48Arginine and proline metabolism_Homo sapiens_hsa003300.78124076
49Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.77190193
50Propanoate metabolism_Homo sapiens_hsa006400.75758594
51Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.65285271
52Fatty acid metabolism_Homo sapiens_hsa012120.64248235
53Fat digestion and absorption_Homo sapiens_hsa049750.61704365
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.51597595
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44297572
56Pertussis_Homo sapiens_hsa051330.44085419
57Metabolic pathways_Homo sapiens_hsa011000.40583209
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38594386
59Sulfur metabolism_Homo sapiens_hsa009200.37191093
60Lysine degradation_Homo sapiens_hsa003100.37103747
61Systemic lupus erythematosus_Homo sapiens_hsa053220.31563457
62Insulin resistance_Homo sapiens_hsa049310.29080609
63Sulfur relay system_Homo sapiens_hsa041220.26691278
64Glycerolipid metabolism_Homo sapiens_hsa005610.22692523
65Glucagon signaling pathway_Homo sapiens_hsa049220.21005284
66Fatty acid biosynthesis_Homo sapiens_hsa000610.20664279
67Adipocytokine signaling pathway_Homo sapiens_hsa049200.20545033
68Pentose phosphate pathway_Homo sapiens_hsa000300.17445906
69Fructose and mannose metabolism_Homo sapiens_hsa000510.16852066
70Selenocompound metabolism_Homo sapiens_hsa004500.10797272
71Amoebiasis_Homo sapiens_hsa051460.09136490
72AMPK signaling pathway_Homo sapiens_hsa041520.07050181
73Galactose metabolism_Homo sapiens_hsa000520.01641907
74Vitamin digestion and absorption_Homo sapiens_hsa049770.01292254
75Serotonergic synapse_Homo sapiens_hsa047260.01182313
76Platelet activation_Homo sapiens_hsa04611-0.2696857
77FoxO signaling pathway_Homo sapiens_hsa04068-0.2649039
78Sphingolipid metabolism_Homo sapiens_hsa00600-0.2627745
79Type II diabetes mellitus_Homo sapiens_hsa04930-0.2553387
80Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.2457966
81Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2422349
82Ovarian steroidogenesis_Homo sapiens_hsa04913-0.2345760
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.2123865
84Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.2035537
85Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1963400
86Circadian rhythm_Homo sapiens_hsa04710-0.1839109
87Steroid biosynthesis_Homo sapiens_hsa00100-0.1463802
88African trypanosomiasis_Homo sapiens_hsa05143-0.1359018
89Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1273262
90Insulin signaling pathway_Homo sapiens_hsa04910-0.1123421
91Nitrogen metabolism_Homo sapiens_hsa00910-0.1106469
92Glutathione metabolism_Homo sapiens_hsa00480-0.0935378
93Other glycan degradation_Homo sapiens_hsa00511-0.0898569
94Mineral absorption_Homo sapiens_hsa04978-0.0836878
95Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0797243
96Renin-angiotensin system_Homo sapiens_hsa04614-0.0715547
97Fatty acid elongation_Homo sapiens_hsa00062-0.0382885
98alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0302333
99Folate biosynthesis_Homo sapiens_hsa00790-0.0125479
100Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0010151

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