CFHR2

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 belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1omega-hydroxylase P450 pathway (GO:0097267)8.31159035
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.63601959
3L-phenylalanine catabolic process (GO:0006559)7.63601959
4L-phenylalanine metabolic process (GO:0006558)7.28241060
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.28241060
6aromatic amino acid family catabolic process (GO:0009074)6.92293595
7indole-containing compound catabolic process (GO:0042436)6.27711199
8indolalkylamine catabolic process (GO:0046218)6.27711199
9tryptophan catabolic process (GO:0006569)6.27711199
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.19503116
11oxidative demethylation (GO:0070989)6.17448829
12bile acid biosynthetic process (GO:0006699)6.10751590
13kynurenine metabolic process (GO:0070189)6.09560133
14drug metabolic process (GO:0017144)6.07108828
15tryptophan metabolic process (GO:0006568)5.89924359
16urea metabolic process (GO:0019627)5.80118708
17urea cycle (GO:0000050)5.80118708
18glyoxylate metabolic process (GO:0046487)5.77734639
19complement activation, alternative pathway (GO:0006957)5.61987350
20negative regulation of fibrinolysis (GO:0051918)5.59740422
21alpha-linolenic acid metabolic process (GO:0036109)5.51390120
22regulation of protein activation cascade (GO:2000257)5.50961075
23high-density lipoprotein particle remodeling (GO:0034375)5.47542597
24phenylpropanoid metabolic process (GO:0009698)5.46246569
25regulation of fibrinolysis (GO:0051917)5.42578876
26cysteine metabolic process (GO:0006534)5.38773603
27sulfur amino acid catabolic process (GO:0000098)5.38224402
28peptidyl-glutamic acid carboxylation (GO:0017187)5.37099216
29protein carboxylation (GO:0018214)5.37099216
30ethanol metabolic process (GO:0006067)5.33499126
31nitrogen cycle metabolic process (GO:0071941)5.33493664
32acute-phase response (GO:0006953)5.19451504
33regulation of humoral immune response (GO:0002920)5.17965187
34negative regulation of protein activation cascade (GO:2000258)5.17866005
35regulation of complement activation (GO:0030449)5.17525122
36bile acid metabolic process (GO:0008206)5.16911256
37opsonization (GO:0008228)5.15665874
38serine family amino acid catabolic process (GO:0009071)5.14082896
39regulation of plasminogen activation (GO:0010755)5.08657164
40aromatic amino acid family metabolic process (GO:0009072)5.02000943
41homocysteine metabolic process (GO:0050667)4.95028014
42fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.89595986
43regulation of triglyceride catabolic process (GO:0010896)4.87085440
44tyrosine metabolic process (GO:0006570)4.84956922
45regulation of cholesterol esterification (GO:0010872)4.76674276
46reverse cholesterol transport (GO:0043691)4.76090880
47plasma lipoprotein particle remodeling (GO:0034369)4.70948295
48protein-lipid complex remodeling (GO:0034368)4.70948295
49macromolecular complex remodeling (GO:0034367)4.70948295
50negative regulation of hemostasis (GO:1900047)4.70695621
51negative regulation of blood coagulation (GO:0030195)4.70695621
52alpha-amino acid catabolic process (GO:1901606)4.68776683
53lysine catabolic process (GO:0006554)4.64146256
54lysine metabolic process (GO:0006553)4.64146256
55amino-acid betaine metabolic process (GO:0006577)4.59998004
56positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.59153469
57hormone catabolic process (GO:0042447)4.58743310
58triglyceride homeostasis (GO:0070328)4.58360861
59acylglycerol homeostasis (GO:0055090)4.58360861
60S-adenosylmethionine metabolic process (GO:0046500)4.49548193
61negative regulation of cholesterol transport (GO:0032375)4.48460865
62negative regulation of sterol transport (GO:0032372)4.48460865
63phospholipid efflux (GO:0033700)4.48226725
64bile acid and bile salt transport (GO:0015721)4.47352597
65coenzyme catabolic process (GO:0009109)4.44716476
66indolalkylamine metabolic process (GO:0006586)4.44562145
67glycine metabolic process (GO:0006544)4.42212796
68alkaloid metabolic process (GO:0009820)4.37630503
69cellular glucuronidation (GO:0052695)4.36901377
70disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.36177209
71killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.36177209
72cellular biogenic amine catabolic process (GO:0042402)4.35626203
73amine catabolic process (GO:0009310)4.35626203
74negative regulation of wound healing (GO:0061045)4.35392911
75imidazole-containing compound metabolic process (GO:0052803)4.34558804
76plasma lipoprotein particle clearance (GO:0034381)4.30928693
77cellular amino acid catabolic process (GO:0009063)4.30389587
78cellular ketone body metabolic process (GO:0046950)4.29548919
79negative regulation of coagulation (GO:0050819)4.27218154
80glutamate metabolic process (GO:0006536)4.24174814
81serine family amino acid metabolic process (GO:0009069)4.21239864
82negative regulation of complement activation (GO:0045916)4.20453482
83cholesterol efflux (GO:0033344)4.17270696
84benzene-containing compound metabolic process (GO:0042537)4.16615921
85ethanol oxidation (GO:0006069)4.07493181
86arginine metabolic process (GO:0006525)4.07206122
87cellular modified amino acid catabolic process (GO:0042219)4.05492329
88dicarboxylic acid biosynthetic process (GO:0043650)4.05356594
89fibrinolysis (GO:0042730)4.03168678
90aldehyde catabolic process (GO:0046185)4.01759324
91serine family amino acid biosynthetic process (GO:0009070)3.99863956
92positive regulation of hemostasis (GO:1900048)3.98260113
93positive regulation of blood coagulation (GO:0030194)3.98260113
94low-density lipoprotein particle remodeling (GO:0034374)3.95998180
95acute inflammatory response (GO:0002526)3.95276748
96plasma lipoprotein particle assembly (GO:0034377)3.94354997
97drug catabolic process (GO:0042737)3.92038438
98complement activation, classical pathway (GO:0006958)3.89709069
99blood coagulation, intrinsic pathway (GO:0007597)3.88723947
100glucuronate metabolic process (GO:0019585)3.88275961
101uronic acid metabolic process (GO:0006063)3.88275961
102complement activation (GO:0006956)3.87309341
103cytolysis (GO:0019835)3.87188578
104cofactor catabolic process (GO:0051187)3.84934016
105protein activation cascade (GO:0072376)3.81645699
106regulation of bile acid biosynthetic process (GO:0070857)3.80036361
107acetyl-CoA metabolic process (GO:0006084)3.74847971
108carboxylic acid catabolic process (GO:0046395)3.74763741
109organic acid catabolic process (GO:0016054)3.74763741
110very-low-density lipoprotein particle assembly (GO:0034379)3.73952904
111positive regulation of lipid catabolic process (GO:0050996)3.73870483
112phospholipid homeostasis (GO:0055091)3.73761850
113negative regulation of lipase activity (GO:0060192)3.72970233
114cholesterol homeostasis (GO:0042632)3.72722814
115steroid catabolic process (GO:0006706)3.72645500
116ketone body metabolic process (GO:1902224)3.71725019
117regulation of acute inflammatory response (GO:0002673)3.70980313
118positive regulation of triglyceride lipase activity (GO:0061365)3.69810028
119positive regulation of lipoprotein lipase activity (GO:0051006)3.69810028
120flavonoid metabolic process (GO:0009812)3.68902652
121sterol homeostasis (GO:0055092)3.66518266
122positive regulation of coagulation (GO:0050820)3.65684273
123short-chain fatty acid metabolic process (GO:0046459)3.63351135
124epoxygenase P450 pathway (GO:0019373)3.62581659
125NAD biosynthetic process (GO:0009435)3.57976253
126plasma lipoprotein particle organization (GO:0071827)3.57242190
127exogenous drug catabolic process (GO:0042738)3.56327069
128nicotinamide nucleotide biosynthetic process (GO:0019359)3.53697674
129heme transport (GO:0015886)3.53378339
130xenobiotic metabolic process (GO:0006805)3.50269508
131regulation of apoptotic cell clearance (GO:2000425)3.46834745
132regulation of lipoprotein particle clearance (GO:0010984)3.42972920
133response to mercury ion (GO:0046689)3.41490111

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.37367429
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.15635356
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.10515450
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.50865456
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.33769645
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.12000888
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.71730817
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.06315792
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.01147526
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.08832811
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9938530
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.95233922
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93723045
14HTT_18923047_ChIP-ChIP_STHdh_Human1.61674798
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.60510792
16CLOCK_20551151_ChIP-Seq_293T_Human1.56061636
17GATA1_22025678_ChIP-Seq_K562_Human1.45638994
18HNF4A_19822575_ChIP-Seq_HepG2_Human1.39258720
19TRIM28_21343339_ChIP-Seq_HEK293_Human1.36404903
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.22428426
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.18768708
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16774604
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.14280314
24MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.10841096
25CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.05767029
26ESR1_15608294_ChIP-ChIP_MCF-7_Human1.04688978
27NFE2_27457419_Chip-Seq_LIVER_Mouse1.01875633
28ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00124618
29IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.99569232
30HNFA_21074721_ChIP-Seq_CACO-2_Human0.98308256
31TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.94628013
32PHF8_20622853_ChIP-Seq_HELA_Human0.93771127
33* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.91674712
34SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91568186
35GATA6_21074721_ChIP-Seq_CACO-2_Human0.91562708
36PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91198825
37IRF1_19129219_ChIP-ChIP_H3396_Human0.86384841
38EZH2_27294783_Chip-Seq_NPCs_Mouse0.84156022
39IRF8_22096565_ChIP-ChIP_GC-B_Human0.84089330
40AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83941584
41PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.83088543
42NFYA_21822215_ChIP-Seq_K562_Human0.81848813
43SUZ12_27294783_Chip-Seq_NPCs_Mouse0.79504606
44GATA4_25053715_ChIP-Seq_YYC3_Human0.79195011
45BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78867663
46RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78252686
47ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77962621
48KAP1_22055183_ChIP-Seq_ESCs_Mouse0.77501328
49Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.77422695
50ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.75439728
51ZNF263_19887448_ChIP-Seq_K562_Human0.74823536
52SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.74787923
53ER_23166858_ChIP-Seq_MCF-7_Human0.73245279
54RARA_24833708_ChIP-Seq_LIVER_Mouse0.72488994
55SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.71806320
56CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.71639713
57CBX2_22325352_ChIP-Seq_293T-Rex_Human0.71282012
58CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.71241830
59PIAS1_25552417_ChIP-Seq_VCAP_Human0.70910887
60SALL4_18804426_ChIP-ChIP_XEN_Mouse0.70615187
61NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.69990932
62NRF2_20460467_ChIP-Seq_MEFs_Mouse0.69990932
63AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.68666435
64SOX2_21211035_ChIP-Seq_LN229_Human0.68657348
65FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.67862415
66TP53_18474530_ChIP-ChIP_U2OS_Human0.66115391
67CRX_20693478_ChIP-Seq_RETINA_Mouse0.66083796
68RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.65573959
69ETV1_20927104_ChIP-Seq_GIST48_Human0.65290180
70ESR2_21235772_ChIP-Seq_MCF-7_Human0.63548099
71ETV2_25802403_ChIP-Seq_MESCs_Mouse0.61815440
72SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.61598814
73RARB_24833708_ChIP-Seq_LIVER_Mouse0.61508318
74OCT4_21477851_ChIP-Seq_ESCs_Mouse0.61007668
75POU3F2_20337985_ChIP-ChIP_501MEL_Human0.60409372
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.59890043
77GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.59820023
78RUNX1_27457419_Chip-Seq_LIVER_Mouse0.59663718
79NFYB_21822215_ChIP-Seq_K562_Human0.58890758
80OCT4_18555785_Chip-Seq_ESCs_Mouse0.58847760
81BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.58112817
82PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.57728270
83EGR1_19032775_ChIP-ChIP_M12_Human0.57442727
84NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.57241069
85ESRRB_18555785_Chip-Seq_ESCs_Mouse0.57120511
86NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.57029718
87SMAD1_18555785_Chip-Seq_ESCs_Mouse0.56711813
88TCF4_18268006_ChIP-ChIP_LS174T_Human0.56330155
89EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.56012138
90* CEBPB_22108803_ChIP-Seq_LS180_Human0.54386913
91SRY_22984422_ChIP-ChIP_TESTIS_Rat0.54303423
92FOXA1_25552417_ChIP-Seq_VCAP_Human0.53939334
93AR_20517297_ChIP-Seq_VCAP_Human0.53552373
94EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.53356878
95PU1_27457419_Chip-Seq_LIVER_Mouse0.53294020
96FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.53150891
97SOX2_20726797_ChIP-Seq_SW620_Human0.53096152
98ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.52027230
99NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.51546385
100MYC_19915707_ChIP-ChIP_AK7_Human0.50795192
101FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50685777
102PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.50659511
103* RBPJ_21746931_ChIP-Seq_IB4_Human0.50136981
104CBP_21632823_ChIP-Seq_H3396_Human0.49825769
105ESET_19884257_ChIP-Seq_ESCs_Mouse0.48705681
106E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.48697465
107MYC_19829295_ChIP-Seq_ESCs_Human0.48478748
108STAT1_17558387_ChIP-Seq_HELA_Human0.48272044
109STAT3_1855785_ChIP-Seq_MESCs_Mouse0.47901624
110CDX2_20551321_ChIP-Seq_CACO-2_Human0.47826771
111KLF4_18555785_Chip-Seq_ESCs_Mouse0.47462360
112* SPI1_20517297_ChIP-Seq_HL60_Human0.47233328
113* RAC3_21632823_ChIP-Seq_H3396_Human0.47144569
114LXR_22292898_ChIP-Seq_THP-1_Human0.46015620
115P53_21459846_ChIP-Seq_SAOS-2_Human0.46006299
116PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.45850328
117FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.44960162
118PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.43594644
119FOXO3_23340844_ChIP-Seq_DLD1_Human0.43439975
120ESR1_21235772_ChIP-Seq_MCF-7_Human0.43319850
121PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42906990
122BCAT_22108803_ChIP-Seq_LS180_Human0.42828051
123CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.42800845
124GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.42356899
125FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41979480
126ESR1_20079471_ChIP-ChIP_T-47D_Human0.40721563
127TAF2_19829295_ChIP-Seq_ESCs_Human0.40525168
128GATA1_19941826_ChIP-Seq_K562_Human0.39613256
129ERG_21242973_ChIP-ChIP_JURKAT_Human0.39545703
130PPAR_26484153_Chip-Seq_NCI-H1993_Human0.39226336
131GATA2_19941826_ChIP-Seq_K562_Human0.38348396
132SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.38338770
133SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.37719380
134GATA1_19941827_ChIP-Seq_MEL_Mouse0.37250932
135GATA6_25053715_ChIP-Seq_YYC3_Human0.36739626
136STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.36727474
137MYC_27129775_Chip-Seq_CORNEA_Mouse0.36532500
138FOXH1_21741376_ChIP-Seq_EPCs_Human0.35536358
139LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35185948
140ERG_20517297_ChIP-Seq_VCAP_Human0.35058975
141NCOR_22424771_ChIP-Seq_293T_Human0.34758538
142CDX2_22108803_ChIP-Seq_LS180_Human0.34728087
143SPI1_26923725_Chip-Seq_HPCs_Mouse0.34725779
144EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.34355810

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.27347409
2MP0005360_urolithiasis7.59041809
3MP0005085_abnormal_gallbladder_physiolo6.57811244
4MP0005365_abnormal_bile_salt6.22089782
5MP0008875_abnormal_xenobiotic_pharmacok5.18833253
6MP0003806_abnormal_nucleotide_metabolis4.22493374
7MP0003252_abnormal_bile_duct3.99199971
8MP0010329_abnormal_lipoprotein_level3.55401159
9MP0009840_abnormal_foam_cell3.17694518
10MP0005083_abnormal_biliary_tract3.02987352
11MP0003195_calcinosis2.77586630
12MP0005332_abnormal_amino_acid2.75304793
13MP0001666_abnormal_nutrient_absorption2.59950304
14MP0003191_abnormal_cellular_cholesterol2.23393073
15MP0000609_abnormal_liver_physiology2.15589228
16MP0004019_abnormal_vitamin_homeostasis2.14646668
17MP0002118_abnormal_lipid_homeostasis2.08770526
18MP0002138_abnormal_hepatobiliary_system2.01472522
19MP0003868_abnormal_feces_composition2.00586669
20MP0005319_abnormal_enzyme/_coenzyme1.82912896
21MP0001764_abnormal_homeostasis1.70119004
22MP0009697_abnormal_copulation1.62653976
23MP0005584_abnormal_enzyme/coenzyme_acti1.56224507
24MP0003011_delayed_dark_adaptation1.40606127
25MP0005451_abnormal_body_composition1.36923910
26MP0003186_abnormal_redox_activity1.27290237
27MP0003656_abnormal_erythrocyte_physiolo1.24502954
28MP0009643_abnormal_urine_homeostasis1.22094559
29MP0000598_abnormal_liver_morphology1.17753931
30MP0005647_abnormal_sex_gland1.14660252
31MP0003705_abnormal_hypodermis_morpholog1.11738085
32MP0002132_abnormal_respiratory_system1.07836067
33MP0009764_decreased_sensitivity_to1.06547796
34MP0002254_reproductive_system_inflammat1.04282815
35MP0000604_amyloidosis1.02908194
36MP0009763_increased_sensitivity_to1.02382889
37MP0005187_abnormal_penis_morphology0.96114379
38MP0010368_abnormal_lymphatic_system0.93963113
39MP0005636_abnormal_mineral_homeostasis0.90358534
40MP0008469_abnormal_protein_level0.89386255
41MP0005408_hypopigmentation0.88164280
42MP0005670_abnormal_white_adipose0.87064885
43MP0001915_intracranial_hemorrhage0.86354306
44MP0009642_abnormal_blood_homeostasis0.86207138
45MP0005084_abnormal_gallbladder_morpholo0.81767702
46MP0005376_homeostasis/metabolism_phenot0.80328881
47MP0006036_abnormal_mitochondrial_physio0.79403641
48MP0009765_abnormal_xenobiotic_induced0.78483868
49MP0002876_abnormal_thyroid_physiology0.75660899
50MP0002078_abnormal_glucose_homeostasis0.75289005
51MP0005220_abnormal_exocrine_pancreas0.74483165
52MP0002971_abnormal_brown_adipose0.70291006
53MP0002282_abnormal_trachea_morphology0.69678721
54MP0003690_abnormal_glial_cell0.69176581
55MP0004130_abnormal_muscle_cell0.68930755
56MP0005535_abnormal_body_temperature0.67700824
57MP0005334_abnormal_fat_pad0.67612659
58MP0001661_extended_life_span0.64760172
59MP0005266_abnormal_metabolism0.64581383
60MP0009053_abnormal_anal_canal0.63746507
61MP0000639_abnormal_adrenal_gland0.60069524
62MP0009785_altered_susceptibility_to0.59463038
63MP0003329_amyloid_beta_deposits0.57894264
64MP0003879_abnormal_hair_cell0.56275046
65MP0001756_abnormal_urination0.55752704
66MP0006035_abnormal_mitochondrial_morpho0.54974088
67MP0002249_abnormal_larynx_morphology0.54922316
68MP0005448_abnormal_energy_balance0.51982003
69MP0005464_abnormal_platelet_physiology0.51254244
70MP0005023_abnormal_wound_healing0.49072050
71MP0004381_abnormal_hair_follicle0.48938556
72MP0002928_abnormal_bile_duct0.48410485
73MP0002822_catalepsy0.47843568
74MP0003638_abnormal_response/metabolism_0.46206737
75MP0008873_increased_physiological_sensi0.45913754
76MP0008874_decreased_physiological_sensi0.45737897
77MP0005395_other_phenotype0.45581786
78MP0003724_increased_susceptibility_to0.44794823
79MP0003718_maternal_effect0.44717405
80MP0002136_abnormal_kidney_physiology0.43897104
81MP0003436_decreased_susceptibility_to0.42688832
82MP0004782_abnormal_surfactant_physiolog0.41685444
83MP0005166_decreased_susceptibility_to0.40337406
84MP0000579_abnormal_nail_morphology0.40195506
85MP0009384_cardiac_valve_regurgitation0.40194608
86MP0003075_altered_response_to0.39961186
87MP0002837_dystrophic_cardiac_calcinosis0.39739646
88MP0003953_abnormal_hormone_level0.38522473
89MP0005248_abnormal_Harderian_gland0.38467969
90MP0008872_abnormal_physiological_respon0.38151879
91MP0005058_abnormal_lysosome_morphology0.37753343
92MP0005666_abnormal_adipose_tissue0.36633227
93MP0009672_abnormal_birth_weight0.35588965
94MP0002796_impaired_skin_barrier0.34633524
95MP0000230_abnormal_systemic_arterial0.32712630
96MP0000249_abnormal_blood_vessel0.31374951
97MP0002332_abnormal_exercise_endurance0.31163710
98MP0009115_abnormal_fat_cell0.30808230
99MP0001243_abnormal_dermal_layer0.30618112
100MP0004883_abnormal_blood_vessel0.30049204
101MP0006082_CNS_inflammation0.29712611
102MP0003959_abnormal_lean_body0.29055212
103MP0001853_heart_inflammation0.28931172
104MP0001881_abnormal_mammary_gland0.28313407
105MP0002970_abnormal_white_adipose0.28242537
106MP0010386_abnormal_urinary_bladder0.28165096
107MP0001845_abnormal_inflammatory_respons0.27706613
108MP0002168_other_aberrant_phenotype0.27358210
109MP0002090_abnormal_vision0.27229980
110MP0000467_abnormal_esophagus_morphology0.26902320
111MP0002060_abnormal_skin_morphology0.26607847
112MP0005164_abnormal_response_to0.25317227
113MP0005397_hematopoietic_system_phenotyp0.22969707
114MP0001545_abnormal_hematopoietic_system0.22969707
115MP0000427_abnormal_hair_cycle0.22334422
116MP0002128_abnormal_blood_circulation0.19835917
117MP0005197_abnormal_uvea_morphology0.19638735
118MP0001851_eye_inflammation0.19375151
119MP0003633_abnormal_nervous_system0.19292280
120MP0000566_synostosis0.18608650
121MP0000920_abnormal_myelination0.18111029
122MP0001986_abnormal_taste_sensitivity0.17585033
123MP0004272_abnormal_basement_membrane0.15028947

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.48608760
2Deep venous thrombosis (HP:0002625)7.46224753
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.42903075
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.79151229
5Prolonged partial thromboplastin time (HP:0003645)6.67440908
6Hypobetalipoproteinemia (HP:0003563)6.46707871
7Xanthomatosis (HP:0000991)6.33384157
8Complement deficiency (HP:0004431)5.74077288
9Hyperlipoproteinemia (HP:0010980)5.57205301
10Joint hemorrhage (HP:0005261)4.80167309
11Hypolipoproteinemia (HP:0010981)4.79642505
12Epidermoid cyst (HP:0200040)4.68620699
13Hyperammonemia (HP:0001987)4.61083272
14Abnormality of the common coagulation pathway (HP:0010990)4.49442430
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.40851162
16Hyperglycinemia (HP:0002154)4.36522246
17Abnormality of methionine metabolism (HP:0010901)4.36113960
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.28263438
19Fat malabsorption (HP:0002630)4.21387838
20Ketosis (HP:0001946)4.20748799
21Abnormality of glutamine family amino acid metabolism (HP:0010902)4.20168203
22Abnormality of aspartate family amino acid metabolism (HP:0010899)4.18981007
23Abnormality of complement system (HP:0005339)4.18873581
24Hypoalphalipoproteinemia (HP:0003233)4.15719395
25Abnormality of pyrimidine metabolism (HP:0004353)3.95443149
26Hyperglycinuria (HP:0003108)3.86041122
27Abnormality of glycine metabolism (HP:0010895)3.84631480
28Abnormality of serine family amino acid metabolism (HP:0010894)3.84631480
29Abnormality of the intrinsic pathway (HP:0010989)3.81032079
30Conjugated hyperbilirubinemia (HP:0002908)3.78740466
31Hypoglycemic coma (HP:0001325)3.77950294
32Hypercholesterolemia (HP:0003124)3.63242718
33Hyperbilirubinemia (HP:0002904)3.36114939
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.35529663
35Abnormality of fatty-acid metabolism (HP:0004359)3.28269421
36Steatorrhea (HP:0002570)3.19625177
37Abnormality of serum amino acid levels (HP:0003112)3.09767067
38Abnormality of nucleobase metabolism (HP:0010932)3.06579852
39Delayed CNS myelination (HP:0002188)3.05948952
40Hepatocellular carcinoma (HP:0001402)3.01378362
41Spontaneous abortion (HP:0005268)3.00912751
42Ketoacidosis (HP:0001993)2.94787005
43Myocardial infarction (HP:0001658)2.93993543
44Hypochromic microcytic anemia (HP:0004840)2.93154603
45Osteomalacia (HP:0002749)2.89572004
46Skin nodule (HP:0200036)2.89395768
47Systemic lupus erythematosus (HP:0002725)2.88644206
48Metabolic acidosis (HP:0001942)2.71607220
49Reduced antithrombin III activity (HP:0001976)2.67886570
50Abnormality of purine metabolism (HP:0004352)2.62148204
51Acanthocytosis (HP:0001927)2.61992896
52Fair hair (HP:0002286)2.61307851
53Lethargy (HP:0001254)2.60469091
54Purpura (HP:0000979)2.59612681
55Neonatal hypoglycemia (HP:0001998)2.58387982
56Recurrent gram-negative bacterial infections (HP:0005420)2.55826619
57Glomerulonephritis (HP:0000099)2.52927112
58Abnormal gallbladder morphology (HP:0012437)2.51834943
59Abnormality of dicarboxylic acid metabolism (HP:0010995)2.50568442
60Dicarboxylic aciduria (HP:0003215)2.50568442
61Spastic diplegia (HP:0001264)2.50548488
62Vascular calcification (HP:0004934)2.49414094
63Pulmonary embolism (HP:0002204)2.46671337
64Cerebral edema (HP:0002181)2.45040788
65Cholelithiasis (HP:0001081)2.43960786
66Hypoglycemic seizures (HP:0002173)2.43488059
67Gout (HP:0001997)2.41537424
68Mitral stenosis (HP:0001718)2.40525825
69Neonatal onset (HP:0003623)2.40101791
70Cholecystitis (HP:0001082)2.38842310
71Abnormal gallbladder physiology (HP:0012438)2.38842310
72Irritability (HP:0000737)2.37196372
73Amyloidosis (HP:0011034)2.28479420
74Cardiovascular calcification (HP:0011915)2.20991160
75Gingival bleeding (HP:0000225)2.19934076
76Esophageal varix (HP:0002040)2.19552378
77Sensorimotor neuropathy (HP:0007141)2.13856068
78Malnutrition (HP:0004395)2.13510015
79Pancreatitis (HP:0001733)2.12719851
80Menorrhagia (HP:0000132)2.12574641
81Elevated alkaline phosphatase (HP:0003155)2.10317006
82Enlarged kidneys (HP:0000105)2.10095301
83Brushfield spots (HP:0001088)2.09282096
84Hyperphosphaturia (HP:0003109)2.06648319
85Thrombophlebitis (HP:0004418)2.06283602
86Increased serum ferritin (HP:0003281)2.04496520
87Abnormality of the gallbladder (HP:0005264)2.04493924
88Late onset (HP:0003584)2.03927842
89Vomiting (HP:0002013)2.02768718
90Poikilocytosis (HP:0004447)1.99772622
91Generalized aminoaciduria (HP:0002909)1.98702007
92Opisthotonus (HP:0002179)1.98252280
93Joint swelling (HP:0001386)1.97759938
94Hyperinsulinemic hypoglycemia (HP:0000825)1.97052344
95Abnormality of iron homeostasis (HP:0011031)1.92524087
96Hemorrhage of the eye (HP:0011885)1.91968741
97Rickets (HP:0002748)1.91921750
98Abnormality of alkaline phosphatase activity (HP:0004379)1.91685381
99Gangrene (HP:0100758)1.90883064
100Arthropathy (HP:0003040)1.89381565
101Abnormal cartilage morphology (HP:0002763)1.88778195
102Abnormality of transition element cation homeostasis (HP:0011030)1.88483970
103Renal cortical cysts (HP:0000803)1.86583904
104Glycosuria (HP:0003076)1.86189918
105Abnormality of urine glucose concentration (HP:0011016)1.86189918
106Abnormal enzyme/coenzyme activity (HP:0012379)1.83918301
107Alkalosis (HP:0001948)1.83680791
108Generalized hypopigmentation of hair (HP:0011358)1.83466889
109Abnormality of the Achilles tendon (HP:0005109)1.82044335
110Elevated hepatic transaminases (HP:0002910)1.81040845
111Epistaxis (HP:0000421)1.80534449
112Hypophosphatemic rickets (HP:0004912)1.80229894
113Hydroxyprolinuria (HP:0003080)1.79927966
114Abnormality of proline metabolism (HP:0010907)1.79927966
115Status epilepticus (HP:0002133)1.79456318
116Nephritis (HP:0000123)1.77819161
117Abnormality of vitamin metabolism (HP:0100508)1.76767319
118Atrioventricular block (HP:0001678)1.75372873
119Hyperglycemia (HP:0003074)1.74057326
120Abnormal delivery (HP:0001787)1.72522590
121Abnormal biliary tract physiology (HP:0012439)1.70936375
122Bile duct proliferation (HP:0001408)1.70936375
123Cerebral palsy (HP:0100021)1.69745138
124Abnormal urine phosphate concentration (HP:0012599)1.66483806
125Blue irides (HP:0000635)1.58136493
126Increased mean platelet volume (HP:0011877)1.47986307
127Potter facies (HP:0002009)1.45015125

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.98811974
2FGFR44.50358303
3SIK14.39359079
4ERN14.18810343
5ERBB43.28863634
6INSRR3.11213057
7TAOK33.10001036
8MAP2K42.38019719
9MST1R2.19090305
10PKN22.17244768
11PRPF4B2.06733472
12MAPK112.02529102
13FLT31.89722836
14LATS11.73545878
15TYK21.70646017
16PIK3CG1.69326824
17ABL21.56261565
18TRIB31.54559721
19DAPK21.49976076
20FRK1.47486642
21NEK91.46892184
22PTK61.46613130
23FGFR21.46215133
24TNK21.32626901
25KDR1.30737374
26JAK21.28823511
27MAP3K71.25995199
28BLK1.21467816
29NTRK31.20655630
30CAMKK21.20246182
31NLK1.18323401
32PRKAA21.16191782
33ERBB21.13334446
34MAP3K141.11742808
35PRKG11.11041770
36ARAF1.10685414
37PINK11.08153370
38MAP3K101.07675917
39PDK21.06707896
40GRK61.06570028
41TBK11.04582937
42MAPK41.03528687
43JAK11.03499824
44FER1.02418288
45MAP2K31.00165106
46PRKACA0.96768352
47PRKCZ0.95388641
48MAP3K10.95304155
49MYLK0.95180593
50MAPK150.94988207
51CAMKK10.91997170
52MUSK0.90374698
53SCYL20.88912974
54MET0.86510437
55MAP3K30.84533869
56STK38L0.84189760
57ZAP700.83199375
58MAPK120.83060045
59EPHB10.80887248
60EPHA30.80339489
61CDK60.79999594
62CAMK2G0.78577938
63PRKACG0.78362378
64CSNK1D0.74795177
65TIE10.73721082
66CSK0.71189743
67MAP3K20.70487415
68GSK3A0.69347564
69WNK30.67270444
70CAMK1D0.67032120
71PRKACB0.66611531
72PRKCB0.66231832
73MAP2K60.66020298
74PRKAA10.65286936
75MAP3K110.65196336
76TGFBR20.65035150
77DYRK1B0.63136635
78IRAK30.62920176
79RPS6KA30.62881008
80SGK30.62854878
81FGFR30.62807742
82MAPK70.61353151
83RIPK10.59221117
84CSF1R0.57774414
85PKN10.57496544
86CSNK1E0.56160639
87IKBKE0.54642967
88PRKCQ0.53962514
89SGK10.53468534
90CSNK1G10.52519285
91GRK10.52254331
92PTK20.51971088
93BRSK20.50706207
94MAP3K130.49619548
95PDPK10.49432091
96IGF1R0.48684654
97SRC0.48489247
98SGK20.47576232
99CSNK2A10.47337436
100EPHA40.46411475
101MAP2K10.45708722
102MAP3K120.45048487
103CSNK2A20.43906539
104PRKCG0.42837178
105MAP3K50.42244950
106RET0.41250524
107PBK0.40343498
108KSR20.39432793
109AKT20.39409832
110TAOK20.39223427
111EGFR0.38219824
112CDK40.37591942
113MAP3K60.36399306
114MAPK30.35200108
115STK160.34247586
116CSNK1G20.33504848
117KIT0.33446097
118ICK0.32951656
119SGK4940.32459224
120SGK2230.32459224
121MTOR0.31431757
122PDK10.31421872
123CSNK1G30.30106048
124CAMK40.29502817
125IRAK20.29218414
126IRAK10.28244772
127PRKCA0.27706192
128PIK3CA0.26880651
129AKT30.25537926
130ABL10.25262074
131LATS20.24691919
132PDK30.23971706
133PDK40.23971706
134MAP2K20.22132564
135CSNK1A1L0.21733002

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.63919043
2Nitrogen metabolism_Homo sapiens_hsa009103.65618860
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.48569464
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.34941757
5Arginine biosynthesis_Homo sapiens_hsa002203.11713868
6Complement and coagulation cascades_Homo sapiens_hsa046102.82370166
7Tryptophan metabolism_Homo sapiens_hsa003802.70561513
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.60155514
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.56687035
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54093238
11Fatty acid degradation_Homo sapiens_hsa000712.43790006
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.34014307
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.24592908
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.15436242
15Butanoate metabolism_Homo sapiens_hsa006502.09052337
16Peroxisome_Homo sapiens_hsa041462.07490555
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.97024750
18Chemical carcinogenesis_Homo sapiens_hsa052041.96494795
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94584849
20Caffeine metabolism_Homo sapiens_hsa002321.90439754
21Propanoate metabolism_Homo sapiens_hsa006401.88475844
22Histidine metabolism_Homo sapiens_hsa003401.88065105
23PPAR signaling pathway_Homo sapiens_hsa033201.84695548
24Staphylococcus aureus infection_Homo sapiens_hsa051501.78719836
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.76777679
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.75907346
27Fatty acid metabolism_Homo sapiens_hsa012121.74680886
28Retinol metabolism_Homo sapiens_hsa008301.72126987
29beta-Alanine metabolism_Homo sapiens_hsa004101.68394547
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.67707554
31Phenylalanine metabolism_Homo sapiens_hsa003601.58926719
32Selenocompound metabolism_Homo sapiens_hsa004501.57999173
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49588052
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49450603
35Bile secretion_Homo sapiens_hsa049761.49240043
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.49061493
37Tyrosine metabolism_Homo sapiens_hsa003501.44175200
38Cysteine and methionine metabolism_Homo sapiens_hsa002701.33542741
39Sulfur metabolism_Homo sapiens_hsa009201.33133611
40Pyruvate metabolism_Homo sapiens_hsa006201.32817660
41Starch and sucrose metabolism_Homo sapiens_hsa005001.30289747
42Fatty acid elongation_Homo sapiens_hsa000621.29518128
43Steroid biosynthesis_Homo sapiens_hsa001001.20739667
44Biosynthesis of amino acids_Homo sapiens_hsa012301.20667901
45ABC transporters_Homo sapiens_hsa020101.19801436
46Folate biosynthesis_Homo sapiens_hsa007901.18943750
47Fat digestion and absorption_Homo sapiens_hsa049751.13401949
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11249927
49Carbon metabolism_Homo sapiens_hsa012001.10650895
50Maturity onset diabetes of the young_Homo sapiens_hsa049500.99517397
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96544674
52Vitamin B6 metabolism_Homo sapiens_hsa007500.94969030
53Arginine and proline metabolism_Homo sapiens_hsa003300.94389398
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.92941901
55Sulfur relay system_Homo sapiens_hsa041220.90082449
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88860511
57Vitamin digestion and absorption_Homo sapiens_hsa049770.83529298
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81306723
59Lysine degradation_Homo sapiens_hsa003100.78675258
60One carbon pool by folate_Homo sapiens_hsa006700.73104493
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68438896
62Glutathione metabolism_Homo sapiens_hsa004800.66576343
63Glycerolipid metabolism_Homo sapiens_hsa005610.64218469
64Pentose phosphate pathway_Homo sapiens_hsa000300.56420451
65Fatty acid biosynthesis_Homo sapiens_hsa000610.52184345
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46242747
67Metabolic pathways_Homo sapiens_hsa011000.45419725
68Prion diseases_Homo sapiens_hsa050200.43460143
69Pertussis_Homo sapiens_hsa051330.41300132
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38263287
71Galactose metabolism_Homo sapiens_hsa000520.23810840
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22881231
73Fructose and mannose metabolism_Homo sapiens_hsa000510.22763789
74Linoleic acid metabolism_Homo sapiens_hsa005910.22139701
75Insulin resistance_Homo sapiens_hsa049310.22074507
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.21520792
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18065832
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.15277618
79Glucagon signaling pathway_Homo sapiens_hsa049220.09756155
80Serotonergic synapse_Homo sapiens_hsa047260.01377581
81AMPK signaling pathway_Homo sapiens_hsa041520.01141147
82N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2549258
83Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2520883
84Ether lipid metabolism_Homo sapiens_hsa00565-0.2491153
85Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2443018
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2442528
87Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2285365
88Sphingolipid metabolism_Homo sapiens_hsa00600-0.2260130
89Amoebiasis_Homo sapiens_hsa05146-0.2149608
90Type II diabetes mellitus_Homo sapiens_hsa04930-0.2087353
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2033034
92Circadian rhythm_Homo sapiens_hsa04710-0.2015101
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1994013
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1937739
95Renin-angiotensin system_Homo sapiens_hsa04614-0.1930380
96Hepatitis C_Homo sapiens_hsa05160-0.1819822
97Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1631692
98Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1612281
99Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1513493
100African trypanosomiasis_Homo sapiens_hsa05143-0.1456869
101Regulation of autophagy_Homo sapiens_hsa04140-0.1334725
102Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1153642
103Insulin signaling pathway_Homo sapiens_hsa04910-0.1111935
104Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0975988
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0781696
106Mineral absorption_Homo sapiens_hsa04978-0.0746702
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0597131
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0551447
109Other glycan degradation_Homo sapiens_hsa00511-0.0270301

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