CFHR5

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 a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* complement activation, alternative pathway (GO:0006957)9.12111455
2exogenous drug catabolic process (GO:0042738)8.88506633
3epoxygenase P450 pathway (GO:0019373)8.76050090
4omega-hydroxylase P450 pathway (GO:0097267)8.72421281
5regulation of protein activation cascade (GO:2000257)8.71492570
6drug catabolic process (GO:0042737)8.70978699
7L-phenylalanine catabolic process (GO:0006559)8.30130650
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)8.30130650
9regulation of complement activation (GO:0030449)8.18535756
10glyoxylate metabolic process (GO:0046487)8.03512514
11regulation of fibrinolysis (GO:0051917)7.92932485
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.60699780
13L-phenylalanine metabolic process (GO:0006558)7.60699780
14negative regulation of fibrinolysis (GO:0051918)7.47739976
15urea metabolic process (GO:0019627)6.99432217
16peptidyl-glutamic acid carboxylation (GO:0017187)6.44948196
17protein carboxylation (GO:0018214)6.44948196
18nitrogen cycle metabolic process (GO:0071941)6.36102671
19ethanol oxidation (GO:0006069)6.31347351
20cellular glucuronidation (GO:0052695)6.29075781
21drug metabolic process (GO:0017144)6.19280734
22fibrinolysis (GO:0042730)6.06821806
23urea cycle (GO:0000050)6.01937296
24oxidative demethylation (GO:0070989)6.01141784
25glucuronate metabolic process (GO:0019585)5.96789033
26uronic acid metabolic process (GO:0006063)5.96789033
27blood coagulation, intrinsic pathway (GO:0007597)5.96639832
28bile acid biosynthetic process (GO:0006699)5.95214018
29aromatic amino acid family catabolic process (GO:0009074)5.92984978
30regulation of triglyceride catabolic process (GO:0010896)5.91717722
31serine family amino acid catabolic process (GO:0009071)5.89808636
32triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.69577236
33* protein activation cascade (GO:0072376)5.54396731
34complement activation, classical pathway (GO:0006958)5.38192287
35* complement activation (GO:0006956)5.34569545
36negative regulation of cholesterol transport (GO:0032375)5.30672862
37negative regulation of sterol transport (GO:0032372)5.30672862
38negative regulation of protein activation cascade (GO:2000258)5.30282135
39bile acid metabolic process (GO:0008206)5.30030254
40opsonization (GO:0008228)5.28589563
41imidazole-containing compound metabolic process (GO:0052803)5.23855068
42regulation of humoral immune response (GO:0002920)5.17942197
43ethanol metabolic process (GO:0006067)5.06162856
44acute-phase response (GO:0006953)5.05857740
45regulation of plasminogen activation (GO:0010755)5.05526092
46phenylpropanoid metabolic process (GO:0009698)5.01559339
47glycine metabolic process (GO:0006544)4.95857514
48bile acid and bile salt transport (GO:0015721)4.93314625
49tyrosine metabolic process (GO:0006570)4.89160380
50positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.86280191
51positive regulation of lipoprotein lipase activity (GO:0051006)4.85110197
52positive regulation of triglyceride lipase activity (GO:0061365)4.85110197
53cytolysis (GO:0019835)4.70797547
54S-adenosylmethionine metabolic process (GO:0046500)4.69424726
55negative regulation of blood coagulation (GO:0030195)4.63748308
56negative regulation of hemostasis (GO:1900047)4.63748308
57disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.62529128
58killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.62529128
59triglyceride homeostasis (GO:0070328)4.48539457
60acylglycerol homeostasis (GO:0055090)4.48539457
61hormone catabolic process (GO:0042447)4.43690059
62protein-lipid complex remodeling (GO:0034368)4.33148352
63macromolecular complex remodeling (GO:0034367)4.33148352
64plasma lipoprotein particle remodeling (GO:0034369)4.33148352
65negative regulation of wound healing (GO:0061045)4.26735379
66alkaloid metabolic process (GO:0009820)4.25844696
67negative regulation of complement activation (GO:0045916)4.23210807
68glutamate metabolic process (GO:0006536)4.21727655
69phospholipid efflux (GO:0033700)4.21212091
70negative regulation of coagulation (GO:0050819)4.20132369
71flavonoid metabolic process (GO:0009812)4.05973926
72serine family amino acid metabolic process (GO:0009069)4.05950090
73alpha-amino acid catabolic process (GO:1901606)4.01854641
74positive regulation of blood coagulation (GO:0030194)3.99479886
75positive regulation of hemostasis (GO:1900048)3.99479886
76amino-acid betaine metabolic process (GO:0006577)3.95956178
77regulation of cholesterol esterification (GO:0010872)3.95199158
78cholesterol efflux (GO:0033344)3.93017549
79arginine metabolic process (GO:0006525)3.89490809
80aromatic amino acid family metabolic process (GO:0009072)3.87559529
81high-density lipoprotein particle remodeling (GO:0034375)3.86779884
82tryptophan catabolic process (GO:0006569)3.82188825
83indole-containing compound catabolic process (GO:0042436)3.82188825
84indolalkylamine catabolic process (GO:0046218)3.82188825
85acute inflammatory response (GO:0002526)3.82142901
86negative regulation of lipase activity (GO:0060192)3.75766719
87positive regulation of lipid catabolic process (GO:0050996)3.72234860
88regulation of acute inflammatory response (GO:0002673)3.69622348
89positive regulation of coagulation (GO:0050820)3.66670213
90cellular ketone body metabolic process (GO:0046950)3.61372688
91positive regulation of fatty acid biosynthetic process (GO:0045723)3.59233241
92serine family amino acid biosynthetic process (GO:0009070)3.58365861
93regulation of apoptotic cell clearance (GO:2000425)3.57144873
94cysteine metabolic process (GO:0006534)3.56244816
95reverse cholesterol transport (GO:0043691)3.55649232
96response to mercury ion (GO:0046689)3.53862009
97heme transport (GO:0015886)3.48808501
98steroid catabolic process (GO:0006706)3.48384476
99xenobiotic metabolic process (GO:0006805)3.45908022
100cellular amino acid catabolic process (GO:0009063)3.43138382

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_23403033_ChIP-Seq_LIVER_Mouse7.27321485
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.05799105
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.87066041
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.67223440
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.44206319
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.00177978
7CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.65886315
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.05201209
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.91420039
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.95119692
11TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.04624956
12HNF4A_19822575_ChIP-Seq_HepG2_Human2.00832008
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.4502319
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.95642920
15HTT_18923047_ChIP-ChIP_STHdh_Human1.90740110
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.86805003
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66552159
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.50832332
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.31251298
20BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.27441563
21ESR1_15608294_ChIP-ChIP_MCF-7_Human1.24181270
22MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.20401235
23TRIM28_21343339_ChIP-Seq_HEK293_Human1.17019382
24ESR1_20079471_ChIP-ChIP_T-47D_Human1.13989605
25AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.09058980
26NFE2_27457419_Chip-Seq_LIVER_Mouse1.07849249
27GATA1_22025678_ChIP-Seq_K562_Human1.01574193
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.99817522
29PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.97890369
30* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.97543150
31STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.97329361
32* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.92208293
33STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.91498457
34* HNFA_21074721_ChIP-Seq_CACO-2_Human0.91021093
35* PHF8_20622853_ChIP-Seq_HELA_Human0.88995024
36RXRA_24833708_ChIP-Seq_LIVER_Mouse0.88515465
37* GATA6_21074721_ChIP-Seq_CACO-2_Human0.86405202
38EZH2_27294783_Chip-Seq_NPCs_Mouse0.85313189
39ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85005998
40IRF8_22096565_ChIP-ChIP_GC-B_Human0.84565895
41IRF1_19129219_ChIP-ChIP_H3396_Human0.82694845
42SUZ12_27294783_Chip-Seq_NPCs_Mouse0.81700875
43RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.81535517
44BCAT_22108803_ChIP-Seq_LS180_Human0.80972524
45KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78095692
46AR_20517297_ChIP-Seq_VCAP_Human0.77357211
47* NFYA_21822215_ChIP-Seq_K562_Human0.77033330
48GATA4_25053715_ChIP-Seq_YYC3_Human0.76917472
49CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.75191789
50ER_23166858_ChIP-Seq_MCF-7_Human0.74604533
51CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.73704053
52PIAS1_25552417_ChIP-Seq_VCAP_Human0.73488289
53FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.71524513
54FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.69470013
55TP53_18474530_ChIP-ChIP_U2OS_Human0.68826071
56CBP_21632823_ChIP-Seq_H3396_Human0.68492755
57SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.68474587
58* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.67857306
59CRX_20693478_ChIP-Seq_RETINA_Mouse0.66591825
60FOXA1_25552417_ChIP-Seq_VCAP_Human0.65942113
61SOX2_21211035_ChIP-Seq_LN229_Human0.65640905
62CEBPB_22108803_ChIP-Seq_LS180_Human0.63839232
63* ETV1_20927104_ChIP-Seq_GIST48_Human0.63524240
64TCF4_18268006_ChIP-ChIP_LS174T_Human0.61897314
65OCT4_21477851_ChIP-Seq_ESCs_Mouse0.61736330
66ETV2_25802403_ChIP-Seq_MESCs_Mouse0.61696536
67SPI1_20517297_ChIP-Seq_HL60_Human0.61683879
68OCT4_18555785_Chip-Seq_ESCs_Mouse0.61162533
69ESR2_21235772_ChIP-Seq_MCF-7_Human0.60982562
70RUNX1_27457419_Chip-Seq_LIVER_Mouse0.60935772
71LXR_22292898_ChIP-Seq_THP-1_Human0.59500580
72ESRRB_18555785_Chip-Seq_ESCs_Mouse0.58534767
73SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.58238975
74SMAD1_18555785_Chip-Seq_ESCs_Mouse0.57524565
75PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.56602156
76PU1_27457419_Chip-Seq_LIVER_Mouse0.56468621
77EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.55782872
78* POU3F2_20337985_ChIP-ChIP_501MEL_Human0.55722844
79RBPJ_21746931_ChIP-Seq_IB4_Human0.54994342
80* NFYB_21822215_ChIP-Seq_K562_Human0.54478821
81GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.54461096
82BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.54125798
83ERG_20517297_ChIP-Seq_VCAP_Human0.53750232
84ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53582792
85SOX2_27498859_Chip-Seq_STOMACH_Mouse0.52968103
86SRY_22984422_ChIP-ChIP_TESTIS_Rat0.52576376
87RAC3_21632823_ChIP-Seq_H3396_Human0.52406905
88P53_21459846_ChIP-Seq_SAOS-2_Human0.52165083
89GATA6_25053715_ChIP-Seq_YYC3_Human0.52031920
90IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.51594928
91* PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.51404124
92CDX2_20551321_ChIP-Seq_CACO-2_Human0.51054981
93EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.49598989
94KLF4_18555785_Chip-Seq_ESCs_Mouse0.49529617
95TAF2_19829295_ChIP-Seq_ESCs_Human0.48424613
96SMC4_20622854_ChIP-Seq_HELA_Human0.48257220
97MYC_19829295_ChIP-Seq_ESCs_Human0.47934094
98SOX2_20726797_ChIP-Seq_SW620_Human0.47328389
99ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.46543858
100MYC_19915707_ChIP-ChIP_AK7_Human0.46289817

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system9.51474321
2MP0005085_abnormal_gallbladder_physiolo6.53112152
3MP0005360_urolithiasis6.19841120
4MP0005365_abnormal_bile_salt5.82135608
5MP0008875_abnormal_xenobiotic_pharmacok5.68081052
6MP0002138_abnormal_hepatobiliary_system5.03284390
7MP0003195_calcinosis5.00579576
8MP0003252_abnormal_bile_duct4.39783872
9MP0003868_abnormal_feces_composition3.45087346
10MP0001666_abnormal_nutrient_absorption3.13162679
11MP0009697_abnormal_copulation2.82434589
12MP0010329_abnormal_lipoprotein_level2.74796685
13MP0003191_abnormal_cellular_cholesterol2.55755929
14MP0005332_abnormal_amino_acid2.39717765
15MP0003806_abnormal_nucleotide_metabolis2.11866861
16MP0000609_abnormal_liver_physiology1.89231126
17MP0010368_abnormal_lymphatic_system1.87912864
18MP0002876_abnormal_thyroid_physiology1.87094318
19MP0009840_abnormal_foam_cell1.84841672
20MP0002118_abnormal_lipid_homeostasis1.68883413
21MP0001764_abnormal_homeostasis1.65700455
22MP0005670_abnormal_white_adipose1.32807580
23MP0004019_abnormal_vitamin_homeostasis1.31977004
24MP0001661_extended_life_span1.23693638
25MP0005408_hypopigmentation1.21396658
26MP0009053_abnormal_anal_canal1.19295875
27MP0005319_abnormal_enzyme/_coenzyme1.16123312
28MP0002132_abnormal_respiratory_system1.14296358
29MP0000598_abnormal_liver_morphology1.11029917
30MP0009764_decreased_sensitivity_to1.02767038
31MP0000604_amyloidosis0.99067817
32MP0005584_abnormal_enzyme/coenzyme_acti0.95805121
33MP0003656_abnormal_erythrocyte_physiolo0.92968812
34MP0005187_abnormal_penis_morphology0.92846400
35MP0009643_abnormal_urine_homeostasis0.92698986
36MP0009763_increased_sensitivity_to0.89049189
37MP0001915_intracranial_hemorrhage0.87026300
38MP0002971_abnormal_brown_adipose0.85387852
39MP0003186_abnormal_redox_activity0.84243252
40MP0009642_abnormal_blood_homeostasis0.83864158
41MP0008469_abnormal_protein_level0.83633153
42MP0005376_homeostasis/metabolism_phenot0.83212506
43MP0005451_abnormal_body_composition0.80466285
44MP0002282_abnormal_trachea_morphology0.77997068
45MP0005395_other_phenotype0.73562045
46MP0003690_abnormal_glial_cell0.72034379
47MP0008872_abnormal_physiological_respon0.70242535
48MP0005636_abnormal_mineral_homeostasis0.67730197
49MP0005464_abnormal_platelet_physiology0.66288830
50MP0002168_other_aberrant_phenotype0.66050238
51MP0003879_abnormal_hair_cell0.64461343
52MP0008874_decreased_physiological_sensi0.63041133
53MP0005535_abnormal_body_temperature0.62461046
54MP0005266_abnormal_metabolism0.61647179
55MP0002249_abnormal_larynx_morphology0.61081911
56MP0009785_altered_susceptibility_to0.59904490
57MP0002078_abnormal_glucose_homeostasis0.58005272
58MP0003638_abnormal_response/metabolism_0.56237120
59MP0005334_abnormal_fat_pad0.55352368
60MP0003011_delayed_dark_adaptation0.54539840
61MP0005023_abnormal_wound_healing0.51736999
62MP0009765_abnormal_xenobiotic_induced0.47202550
63MP0004130_abnormal_muscle_cell0.45830032
64MP0005166_decreased_susceptibility_to0.43770204
65MP0000249_abnormal_blood_vessel0.42251961
66MP0004782_abnormal_surfactant_physiolog0.40217204
67MP0005164_abnormal_response_to0.37248093
68MP0002136_abnormal_kidney_physiology0.35677129
69MP0002332_abnormal_exercise_endurance0.35531924
70MP0003075_altered_response_to0.34480476
71MP0009115_abnormal_fat_cell0.32486754
72MP0004883_abnormal_blood_vessel0.32162643
73MP0000467_abnormal_esophagus_morphology0.31715784
74MP0005448_abnormal_energy_balance0.30922009
75MP0006036_abnormal_mitochondrial_physio0.30321794
76MP0005058_abnormal_lysosome_morphology0.28967028
77MP0005220_abnormal_exocrine_pancreas0.28438871
78MP0001545_abnormal_hematopoietic_system0.28371503
79MP0005397_hematopoietic_system_phenotyp0.28371503
80MP0003705_abnormal_hypodermis_morpholog0.27966336
81MP0002928_abnormal_bile_duct0.27875961
82MP0001845_abnormal_inflammatory_respons0.27083224
83MP0003953_abnormal_hormone_level0.26092119
84MP0001851_eye_inflammation0.25596746
85MP0005083_abnormal_biliary_tract0.24962339
86MP0005647_abnormal_sex_gland0.21930124
87MP0002128_abnormal_blood_circulation0.21404850
88MP0000639_abnormal_adrenal_gland0.21290770
89MP0003959_abnormal_lean_body0.21093109
90MP0000566_synostosis0.20328079
91MP0008873_increased_physiological_sensi0.20178527
92MP0000920_abnormal_myelination0.19596016
93MP0003633_abnormal_nervous_system0.18778327
94MP0005197_abnormal_uvea_morphology0.18577088
95MP0002970_abnormal_white_adipose0.17857928
96MP0005084_abnormal_gallbladder_morpholo0.17013520
97MP0004272_abnormal_basement_membrane0.16970976
98MP0003436_decreased_susceptibility_to0.15558357
99MP0001881_abnormal_mammary_gland0.14819955
100MP0005666_abnormal_adipose_tissue0.14749999

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)9.74781283
2Prolonged partial thromboplastin time (HP:0003645)8.79497428
3Abnormality of complement system (HP:0005339)8.77021057
4Abnormality of aromatic amino acid family metabolism (HP:0004338)8.54369743
5Hypobetalipoproteinemia (HP:0003563)7.66344049
6Conjugated hyperbilirubinemia (HP:0002908)7.18736962
7Systemic lupus erythematosus (HP:0002725)6.54058424
8Joint hemorrhage (HP:0005261)6.21132050
9Hyperlipoproteinemia (HP:0010980)5.84159930
10Intrahepatic cholestasis (HP:0001406)5.71972738
11Abnormality of the common coagulation pathway (HP:0010990)5.37856315
12Abnormality of pyrimidine metabolism (HP:0004353)5.30266779
13Spontaneous abortion (HP:0005268)5.17624389
14Recurrent gram-negative bacterial infections (HP:0005420)4.99722235
15Xanthomatosis (HP:0000991)4.88884007
16* Glomerulonephritis (HP:0000099)4.62385003
17Hypolipoproteinemia (HP:0010981)4.42936592
18Abnormality of the intrinsic pathway (HP:0010989)4.02739668
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.85356792
20Hypoalphalipoproteinemia (HP:0003233)3.65838780
21Abnormality of methionine metabolism (HP:0010901)3.48213087
22* Nephritis (HP:0000123)3.44783839
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.43898173
24Gingival bleeding (HP:0000225)3.40975497
25Fat malabsorption (HP:0002630)3.26401608
26Hyperammonemia (HP:0001987)3.09517990
27Hyperglycinemia (HP:0002154)2.92801932
28Abnormality of nucleobase metabolism (HP:0010932)2.84802913
29Generalized aminoaciduria (HP:0002909)2.82275703
30Thrombophlebitis (HP:0004418)2.80841902
31Delayed CNS myelination (HP:0002188)2.77032264
32Hepatocellular carcinoma (HP:0001402)2.75515214
33Hypercholesterolemia (HP:0003124)2.73926001
34Hyperbilirubinemia (HP:0002904)2.71385546
35Abnormality of aspartate family amino acid metabolism (HP:0010899)2.68800339
36Neonatal hypoglycemia (HP:0001998)2.61641710
37Osteomalacia (HP:0002749)2.61350189
38Mitral stenosis (HP:0001718)2.59063353
39Purpura (HP:0000979)2.55789677
40Epidermoid cyst (HP:0200040)2.53835577
41Fair hair (HP:0002286)2.53653722
42Hemorrhage of the eye (HP:0011885)2.51424803
43Abnormality of serine family amino acid metabolism (HP:0010894)2.48876504
44Abnormality of glycine metabolism (HP:0010895)2.48876504
45Vascular calcification (HP:0004934)2.48708038
46Abnormality of sulfur amino acid metabolism (HP:0004339)2.47039267
47Pulmonary embolism (HP:0002204)2.43399672
48Reduced antithrombin III activity (HP:0001976)2.42109164
49Abnormality of serum amino acid levels (HP:0003112)2.41485633
50Menorrhagia (HP:0000132)2.39821969
51Cholelithiasis (HP:0001081)2.36752081
52Steatorrhea (HP:0002570)2.30931397
53Rickets (HP:0002748)2.30796429
54Cholecystitis (HP:0001082)2.30649724
55Abnormal gallbladder physiology (HP:0012438)2.30649724
56Abnormal gallbladder morphology (HP:0012437)2.20549951
57Cardiovascular calcification (HP:0011915)2.20479526
58Elevated alkaline phosphatase (HP:0003155)2.15448728
59Joint swelling (HP:0001386)2.14276008
60Hyperglycinuria (HP:0003108)2.00959764
61Metabolic acidosis (HP:0001942)2.00867036
62Complement deficiency (HP:0004431)10.9347616
63Abnormality of monocarboxylic acid metabolism (HP:0010996)10.2901161
64Increased serum ferritin (HP:0003281)1.98994625
65Abnormal enzyme/coenzyme activity (HP:0012379)1.97690011
66Abnormality of alkaline phosphatase activity (HP:0004379)1.95213065
67Abnormality of iron homeostasis (HP:0011031)1.94691582
68Arthropathy (HP:0003040)1.93909515
69Abnormality of the Achilles tendon (HP:0005109)1.91183976
70Epistaxis (HP:0000421)1.88216725
71Gangrene (HP:0100758)1.83577598
72Ketosis (HP:0001946)1.82941037
73Irritability (HP:0000737)1.81161736
74Hyperphosphaturia (HP:0003109)1.80870479
75Myocardial infarction (HP:0001658)1.79336810
76Generalized hypopigmentation of hair (HP:0011358)1.78180546
77Cerebral palsy (HP:0100021)1.77989190
78Abnormal biliary tract physiology (HP:0012439)1.75568377
79Bile duct proliferation (HP:0001408)1.75568377
80Abnormality of transition element cation homeostasis (HP:0011030)1.75505524
81Abnormality of vitamin metabolism (HP:0100508)1.75370118
82Gout (HP:0001997)1.73842571
83Abnormal delivery (HP:0001787)1.73805253
84Abnormality of purine metabolism (HP:0004352)1.72298642
85Pancreatitis (HP:0001733)1.65672001
86Atrioventricular block (HP:0001678)1.65421985
87Enlarged kidneys (HP:0000105)1.63802652
88Abnormality of urine glucose concentration (HP:0011016)1.63777978
89Glycosuria (HP:0003076)1.63777978
90Amyloidosis (HP:0011034)1.59582529
91Abnormality of the gallbladder (HP:0005264)1.59092375
92Increased mean platelet volume (HP:0011877)1.58653386
93Blue irides (HP:0000635)1.55948409
94Skin nodule (HP:0200036)1.53300024
95Hydroxyprolinuria (HP:0003080)1.50330886
96Abnormality of proline metabolism (HP:0010907)1.50330886
97Poikilocytosis (HP:0004447)1.47077061
98Lethargy (HP:0001254)1.46862915
99Abnormal urine phosphate concentration (HP:0012599)1.46283153
100Alkalosis (HP:0001948)1.46192660

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN15.46095169
2PIK3CG5.24108039
3FGFR43.90384987
4SIK12.92923871
5RIPK12.91756401
6TRIB32.81382818
7BCKDK2.53762504
8PRKACG2.39474800
9TYK22.37060174
10EPHA32.36520162
11PIK3CA2.21407105
12TAOK32.16739491
13MAP2K41.84697951
14PRKAA21.80635779
15MST1R1.65841371
16TBK11.60464582
17MAPK111.57984428
18PRPF4B1.56246271
19PRKCG1.55244074
20FGFR31.48704230
21JAK11.44981846
22NTRK31.40942348
23TNK21.30833423
24NLK1.29869410
25IGF1R1.24760474
26PDPK11.24259189
27MAP3K31.23787176
28ICK1.19973791
29FER1.18871641
30PRKG11.17467660
31NEK91.15789224
32ABL21.15785146
33FRK1.13953909
34EPHB11.09692311
35PDK21.09284934
36ERBB21.08073279
37MET1.07459443
38PKN20.97136788
39CAMKK20.95003982
40PRKCZ0.93263362
41TIE10.92761870
42PRKACA0.91728077
43PDK10.91002781
44INSRR0.90316577
45ZAP700.89794002
46MAP3K10.88956811
47JAK20.87724045
48CSF1R0.85583721
49EPHA40.84689320
50PRKAA10.83528155
51STK380.83464695
52BLK0.82970578
53KDR0.80309732
54MAPK120.78808555
55MAP3K20.78550031
56MAPK70.77665762
57MYLK0.73858318
58SCYL20.71816388
59CAMKK10.70828229
60CSNK1D0.70473733
61ERBB40.70121061
62AKT30.69091097
63PRKCB0.66663111
64CDK60.65873261
65PRKACB0.64934545
66RET0.64820277
67SGK10.64260911
68FLT30.63077684
69RPS6KA30.62149026
70WNK30.61462980
71PRKCA0.61300874
72CSNK1E0.60947742
73PINK10.58651985
74TGFBR20.58623508
75MAPK40.58486805
76MAP3K60.55554066
77ARAF0.52092291
78GSK3A0.49703646
79MAP2K30.49543066
80SRC0.49384000
81TAOK20.48674342
82SGK2230.47072319
83SGK4940.47072319
84CSNK2A10.46316195
85MAP3K110.45125603
86MUSK0.45050623
87CDK40.43858296
88DYRK1B0.42282145
89SGK20.39495862
90CAMK2G0.38278635
91BRSK20.37979617
92CSNK2A20.37283230
93NTRK10.37119665
94IKBKE0.34582999
95MAPK30.34527752
96SGK30.34482597
97DAPK20.34192791
98MTOR0.33528971
99KIT0.33242122
100MAPK100.32610286

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.71473494
2Complement and coagulation cascades_Homo sapiens_hsa046104.29160044
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.77580042
4Caffeine metabolism_Homo sapiens_hsa002323.72324601
5Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.51577285
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.45719164
7Retinol metabolism_Homo sapiens_hsa008303.39489203
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.85113006
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.83801380
10Chemical carcinogenesis_Homo sapiens_hsa052042.83334139
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.74914981
12Steroid hormone biosynthesis_Homo sapiens_hsa001402.66279491
13Arginine biosynthesis_Homo sapiens_hsa002202.63560934
14Phenylalanine metabolism_Homo sapiens_hsa003602.56672405
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.48379773
16Tyrosine metabolism_Homo sapiens_hsa003502.34772039
17Fatty acid degradation_Homo sapiens_hsa000712.31449919
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.09639766
19Histidine metabolism_Homo sapiens_hsa003401.92337707
20Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.86088686
21Linoleic acid metabolism_Homo sapiens_hsa005911.81220612
22Bile secretion_Homo sapiens_hsa049761.78177415
23Tryptophan metabolism_Homo sapiens_hsa003801.72193671
24Butanoate metabolism_Homo sapiens_hsa006501.65044306
25Starch and sucrose metabolism_Homo sapiens_hsa005001.59901344
26Staphylococcus aureus infection_Homo sapiens_hsa051501.57806077
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55473986
28Prion diseases_Homo sapiens_hsa050201.48086488
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.46713575
30Cysteine and methionine metabolism_Homo sapiens_hsa002701.41259215
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.35373533
32PPAR signaling pathway_Homo sapiens_hsa033201.34776406
33Vitamin B6 metabolism_Homo sapiens_hsa007501.33232311
34Biosynthesis of amino acids_Homo sapiens_hsa012301.25286002
35Peroxisome_Homo sapiens_hsa041461.21907712
36Cyanoamino acid metabolism_Homo sapiens_hsa004601.18022509
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.14412215
38beta-Alanine metabolism_Homo sapiens_hsa004101.14152354
39Arachidonic acid metabolism_Homo sapiens_hsa005901.13904853
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.09103575
41Pyruvate metabolism_Homo sapiens_hsa006201.01377021
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.96007267
43Arginine and proline metabolism_Homo sapiens_hsa003300.87082489
44One carbon pool by folate_Homo sapiens_hsa006700.85853700
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.85726010
46ABC transporters_Homo sapiens_hsa020100.85227001
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.82257682
48Carbon metabolism_Homo sapiens_hsa012000.81776484
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.79334403
50Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69694849
51Propanoate metabolism_Homo sapiens_hsa006400.69284467
52Fat digestion and absorption_Homo sapiens_hsa049750.67703407
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.60310021
54Fatty acid metabolism_Homo sapiens_hsa012120.59035219
55Sulfur metabolism_Homo sapiens_hsa009200.58688059
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55973432
57Sulfur relay system_Homo sapiens_hsa041220.48418054
58Pertussis_Homo sapiens_hsa051330.42633552
59Metabolic pathways_Homo sapiens_hsa011000.41226891
60Lysine degradation_Homo sapiens_hsa003100.36248970
61Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29729206
62Insulin resistance_Homo sapiens_hsa049310.26919413
63Glycerolipid metabolism_Homo sapiens_hsa005610.25419808
64Systemic lupus erythematosus_Homo sapiens_hsa053220.24667560
65Fructose and mannose metabolism_Homo sapiens_hsa000510.22680314
66Glucagon signaling pathway_Homo sapiens_hsa049220.18790096
67Pentose phosphate pathway_Homo sapiens_hsa000300.17320953
68Adipocytokine signaling pathway_Homo sapiens_hsa049200.14936606
69Vitamin digestion and absorption_Homo sapiens_hsa049770.07789803
70Fatty acid biosynthesis_Homo sapiens_hsa000610.07027652
71Galactose metabolism_Homo sapiens_hsa000520.06810635
72Fatty acid elongation_Homo sapiens_hsa000620.05847989
73Amoebiasis_Homo sapiens_hsa051460.05449023
74Glycosaminoglycan degradation_Homo sapiens_hsa005310.05409378
75Folate biosynthesis_Homo sapiens_hsa007900.04351555
76AMPK signaling pathway_Homo sapiens_hsa041520.03525196
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.02736731
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.02573245
79Other glycan degradation_Homo sapiens_hsa005110.01610318
80FoxO signaling pathway_Homo sapiens_hsa04068-0.2892099
81N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2589842
82Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.2434436
83Type II diabetes mellitus_Homo sapiens_hsa04930-0.2307272
84Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2294925
85Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2267792
86Circadian rhythm_Homo sapiens_hsa04710-0.2033194
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1994283
88Sphingolipid metabolism_Homo sapiens_hsa00600-0.1930847
89Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1821081
90Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.1703347
91Insulin signaling pathway_Homo sapiens_hsa04910-0.1447172
92Nitrogen metabolism_Homo sapiens_hsa00910-0.1415923
93African trypanosomiasis_Homo sapiens_hsa05143-0.1170509
94Mineral absorption_Homo sapiens_hsa04978-0.0972190
95Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0672509
96Steroid biosynthesis_Homo sapiens_hsa00100-0.0655319
97Serotonergic synapse_Homo sapiens_hsa04726-0.0148687
98Glutathione metabolism_Homo sapiens_hsa00480-0.0092479
99Selenocompound metabolism_Homo sapiens_hsa00450-0.0064689
100Renin-angiotensin system_Homo sapiens_hsa04614-0.0060669

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