CFHR3

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: The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms 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)9.29037547
2epoxygenase P450 pathway (GO:0019373)9.12717756
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.67241338
4L-phenylalanine catabolic process (GO:0006559)7.67241338
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.26951207
6L-phenylalanine metabolic process (GO:0006558)7.26951207
7aromatic amino acid family catabolic process (GO:0009074)6.95212635
8tryptophan catabolic process (GO:0006569)6.33583276
9indole-containing compound catabolic process (GO:0042436)6.33583276
10indolalkylamine catabolic process (GO:0046218)6.33583276
11drug metabolic process (GO:0017144)6.30361432
12bile acid biosynthetic process (GO:0006699)6.19831310
13kynurenine metabolic process (GO:0070189)6.15479846
14oxidative demethylation (GO:0070989)6.06050896
15triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.97154392
16tryptophan metabolic process (GO:0006568)5.92661130
17glyoxylate metabolic process (GO:0046487)5.88780871
18urea cycle (GO:0000050)5.75285035
19urea metabolic process (GO:0019627)5.75285035
20complement activation, alternative pathway (GO:0006957)5.67652672
21opsonization (GO:0008228)5.62700398
22ethanol metabolic process (GO:0006067)5.57483337
23regulation of protein activation cascade (GO:2000257)5.53654689
24alpha-linolenic acid metabolic process (GO:0036109)5.49057215
25negative regulation of fibrinolysis (GO:0051918)5.42525650
26cysteine metabolic process (GO:0006534)5.34899440
27regulation of fibrinolysis (GO:0051917)5.34642813
28sulfur amino acid catabolic process (GO:0000098)5.32820908
29nitrogen cycle metabolic process (GO:0071941)5.29425591
30protein carboxylation (GO:0018214)5.25292883
31peptidyl-glutamic acid carboxylation (GO:0017187)5.25292883
32bile acid metabolic process (GO:0008206)5.21469649
33regulation of complement activation (GO:0030449)5.20960483
34S-adenosylmethionine metabolic process (GO:0046500)5.20779643
35high-density lipoprotein particle remodeling (GO:0034375)5.20407975
36regulation of plasminogen activation (GO:0010755)5.08357776
37serine family amino acid catabolic process (GO:0009071)5.04883862
38regulation of humoral immune response (GO:0002920)5.03823733
39aromatic amino acid family metabolic process (GO:0009072)5.00975602
40negative regulation of protein activation cascade (GO:2000258)5.00879484
41acute-phase response (GO:0006953)4.98031755
42fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.94015050
43homocysteine metabolic process (GO:0050667)4.90883134
44regulation of triglyceride catabolic process (GO:0010896)4.80223301
45tyrosine metabolic process (GO:0006570)4.76103653
46disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.75822563
47killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.75822563
48phenylpropanoid metabolic process (GO:0009698)4.74472413
49alpha-amino acid catabolic process (GO:1901606)4.65285621
50positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.65022416
51amino-acid betaine metabolic process (GO:0006577)4.56005829
52lysine metabolic process (GO:0006553)4.55007602
53lysine catabolic process (GO:0006554)4.55007602
54bile acid and bile salt transport (GO:0015721)4.53238802
55plasma lipoprotein particle remodeling (GO:0034369)4.51695772
56protein-lipid complex remodeling (GO:0034368)4.51695772
57macromolecular complex remodeling (GO:0034367)4.51695772
58reverse cholesterol transport (GO:0043691)4.49583041
59negative regulation of blood coagulation (GO:0030195)4.48411945
60negative regulation of hemostasis (GO:1900047)4.48411945
61coenzyme catabolic process (GO:0009109)4.47576316
62acylglycerol homeostasis (GO:0055090)4.47506228
63triglyceride homeostasis (GO:0070328)4.47506228
64indolalkylamine metabolic process (GO:0006586)4.44072867
65alkaloid metabolic process (GO:0009820)4.43606143
66regulation of cholesterol esterification (GO:0010872)4.43386612
67cellular biogenic amine catabolic process (GO:0042402)4.41557819
68amine catabolic process (GO:0009310)4.41557819
69imidazole-containing compound metabolic process (GO:0052803)4.39384217
70glycine metabolic process (GO:0006544)4.38001871
71cellular glucuronidation (GO:0052695)4.33283055
72negative regulation of cholesterol transport (GO:0032375)4.29141001
73negative regulation of sterol transport (GO:0032372)4.29141001
74cellular amino acid catabolic process (GO:0009063)4.25447403
75phospholipid efflux (GO:0033700)4.23007845
76cellular ketone body metabolic process (GO:0046950)4.22674763
77plasma lipoprotein particle clearance (GO:0034381)4.19867439
78ethanol oxidation (GO:0006069)4.18822768
79cell wall macromolecule catabolic process (GO:0016998)4.13903055
80cell wall macromolecule metabolic process (GO:0044036)4.13903055
81serine family amino acid metabolic process (GO:0009069)4.12071804
82glutamate metabolic process (GO:0006536)4.11981450
83benzene-containing compound metabolic process (GO:0042537)4.09961826
84negative regulation of wound healing (GO:0061045)4.09157242
85negative regulation of coagulation (GO:0050819)4.08461114
86aldehyde catabolic process (GO:0046185)4.05757098
87negative regulation of complement activation (GO:0045916)4.03620450
88cytolysis (GO:0019835)4.02141672
89cellular modified amino acid catabolic process (GO:0042219)4.00827303
90flavonoid metabolic process (GO:0009812)4.00249645
91arginine metabolic process (GO:0006525)3.96756164
92dicarboxylic acid biosynthetic process (GO:0043650)3.95681935
93glucuronate metabolic process (GO:0019585)3.95492378
94uronic acid metabolic process (GO:0006063)3.95492378
95fibrinolysis (GO:0042730)3.94940514
96cholesterol efflux (GO:0033344)3.93361316
97blood coagulation, intrinsic pathway (GO:0007597)3.91480684
98complement activation, classical pathway (GO:0006958)3.90389305
99serine family amino acid biosynthetic process (GO:0009070)3.88897382
100low-density lipoprotein particle remodeling (GO:0034374)3.88883142
101positive regulation of hemostasis (GO:1900048)3.88764987
102positive regulation of blood coagulation (GO:0030194)3.88764987
103drug catabolic process (GO:0042737)3.88535675
104complement activation (GO:0006956)3.84399560
105cofactor catabolic process (GO:0051187)3.80891753
106protein activation cascade (GO:0072376)3.80291589
107acetyl-CoA metabolic process (GO:0006084)3.76733323
108organic acid catabolic process (GO:0016054)3.73296294
109carboxylic acid catabolic process (GO:0046395)3.73296294
110regulation of bile acid biosynthetic process (GO:0070857)3.71653049
111acute inflammatory response (GO:0002526)3.70483715
112plasma lipoprotein particle assembly (GO:0034377)3.70254416
113negative regulation of lipase activity (GO:0060192)3.68705617
114positive regulation of fatty acid biosynthetic process (GO:0045723)3.66439084
115positive regulation of lipid catabolic process (GO:0050996)3.65596231
116ketone body metabolic process (GO:1902224)3.64907679
117regulation of acute inflammatory response (GO:0002673)3.64079583
118short-chain fatty acid metabolic process (GO:0046459)3.63758451
119hormone catabolic process (GO:0042447)3.63348332
120cholesterol homeostasis (GO:0042632)3.62101769
121positive regulation of lipoprotein lipase activity (GO:0051006)3.62068200
122positive regulation of triglyceride lipase activity (GO:0061365)3.62068200
123phospholipid homeostasis (GO:0055091)3.61378485
124very-low-density lipoprotein particle assembly (GO:0034379)3.60166709
125positive regulation of coagulation (GO:0050820)3.57251666
126exogenous drug catabolic process (GO:0042738)3.56458729
127sterol homeostasis (GO:0055092)3.56286072
128aspartate family amino acid catabolic process (GO:0009068)3.54965917
129NAD biosynthetic process (GO:0009435)3.53609986
130response to mercury ion (GO:0046689)3.53501534
131xenobiotic metabolic process (GO:0006805)3.45261407
132regulation of apoptotic cell clearance (GO:2000425)3.44961925

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.77724262
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.08688289
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.60716394
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.19929561
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.00643536
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.46474600
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.88968272
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.63834116
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.58464956
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.01505707
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.0896578
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.94051371
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.90843521
14HTT_18923047_ChIP-ChIP_STHdh_Human1.71949727
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.60204888
16TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54353031
17HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.53517586
18FOXA2_19822575_ChIP-Seq_HepG2_Human1.51594646
19KAP1_22055183_ChIP-Seq_ESCs_Mouse1.47211806
20ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.39436159
21HNF4A_19822575_ChIP-Seq_HepG2_Human1.28777277
22RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22095420
23IRF8_22096565_ChIP-ChIP_GC-B_Human1.16133764
24* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11951408
25TAF15_26573619_Chip-Seq_HEK293_Human1.11227537
26IRF1_19129219_ChIP-ChIP_H3396_Human1.09120761
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.04300627
28* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.03365802
29ESR1_20079471_ChIP-ChIP_T-47D_Human1.01210408
30AUTS2_25519132_ChIP-Seq_293T-REX_Human1.00935701
31* PHF8_20622853_ChIP-Seq_HELA_Human0.99617041
32* HNFA_21074721_ChIP-Seq_CACO-2_Human0.99004016
33IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.98181060
34PIAS1_25552417_ChIP-Seq_VCAP_Human0.97174260
35GATA1_22025678_ChIP-Seq_K562_Human0.96115629
36* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95576486
37ER_23166858_ChIP-Seq_MCF-7_Human0.94019254
38CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93704602
39* GATA6_21074721_ChIP-Seq_CACO-2_Human0.92848181
40FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92752420
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.91592486
42TRIM28_21343339_ChIP-Seq_HEK293_Human0.90345276
43CRX_20693478_ChIP-Seq_RETINA_Mouse0.89518793
44STAT1_17558387_ChIP-Seq_HELA_Human0.89388869
45EZH2_27294783_Chip-Seq_NPCs_Mouse0.88760699
46* NFYA_21822215_ChIP-Seq_K562_Human0.85627357
47STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.84350347
48SUZ12_27294783_Chip-Seq_NPCs_Mouse0.84154119
49SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.83254499
50STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.83125857
51NFE2_27457419_Chip-Seq_LIVER_Mouse0.83062991
52RARA_24833708_ChIP-Seq_LIVER_Mouse0.82283520
53Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.81275522
54CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.80500963
55* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.80305799
56MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.80265719
57OCT4_21477851_ChIP-Seq_ESCs_Mouse0.80135297
58TP53_18474530_ChIP-ChIP_U2OS_Human0.78331858
59* ETV1_20927104_ChIP-Seq_GIST48_Human0.77576420
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76919001
61FLI1_27457419_Chip-Seq_LIVER_Mouse0.76848966
62CLOCK_20551151_ChIP-Seq_293T_Human0.76827515
63EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.75682958
64RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.75166368
65ZFP57_27257070_Chip-Seq_ESCs_Mouse0.74575904
66KDM2B_26808549_Chip-Seq_REH_Human0.74083742
67RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.73298894
68RUNX1_27457419_Chip-Seq_LIVER_Mouse0.73081785
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.72641318
70GATA4_25053715_ChIP-Seq_YYC3_Human0.72563879
71MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.71239274
72EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.70622228
73RAD21_21589869_ChIP-Seq_MESCs_Mouse0.70343250
74CBP_21632823_ChIP-Seq_H3396_Human0.70342831
75SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.69570479
76BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.69555938
77ESET_19884257_ChIP-Seq_ESCs_Mouse0.69515442
78LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.69445601
79ESRRB_18555785_Chip-Seq_ESCs_Mouse0.69351120
80* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.68787869
81ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.68756402
82SMAD1_18555785_Chip-Seq_ESCs_Mouse0.68617328
83SOX2_27498859_Chip-Seq_STOMACH_Mouse0.67380601
84OCT4_18555785_Chip-Seq_ESCs_Mouse0.67117944
85ERG_20517297_ChIP-Seq_VCAP_Human0.67051067
86* NFYB_21822215_ChIP-Seq_K562_Human0.67033063
87GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.66569766
88MYC_19915707_ChIP-ChIP_AK7_Human0.66384414
89PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.66206221
90BCAT_22108803_ChIP-Seq_LS180_Human0.65951606
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.65852901
92TCF4_18268006_ChIP-ChIP_LS174T_Human0.65520239
93PCGF2_27294783_Chip-Seq_ESCs_Mouse0.64667108
94* PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.64534568
95NANOG_19829295_ChIP-Seq_ESCs_Human0.64503319
96SOX2_19829295_ChIP-Seq_ESCs_Human0.64503319
97RBPJ_21746931_ChIP-Seq_IB4_Human0.64198400
98IGF1R_20145208_ChIP-Seq_DFB_Human0.63643309
99NRF2_20460467_ChIP-Seq_MEFs_Mouse0.63608931
100NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.63608931
101SOX2_21211035_ChIP-Seq_LN229_Human0.63044995
102TAL1_26923725_Chip-Seq_HPCs_Mouse0.62855713
103TAF2_19829295_ChIP-Seq_ESCs_Human0.62777792
104ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.62718281
105P53_21459846_ChIP-Seq_SAOS-2_Human0.62349666
106RAC3_21632823_ChIP-Seq_H3396_Human0.62341616
107TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.62247217
108CEBPB_22108803_ChIP-Seq_LS180_Human0.62123925
109CDX2_22108803_ChIP-Seq_LS180_Human0.60804951
110THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.60754054
111GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.60628131
112AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.59980203
113PU1_27457419_Chip-Seq_LIVER_Mouse0.59712408
114AR_20517297_ChIP-Seq_VCAP_Human0.59532768
115ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.59371190
116P300_18555785_Chip-Seq_ESCs_Mouse0.59181785
117NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.59118383
118CDX2_19796622_ChIP-Seq_MESCs_Mouse0.59043666
119RARB_24833708_ChIP-Seq_LIVER_Mouse0.58892795
120GBX2_23144817_ChIP-Seq_PC3_Human0.58542307
121* MYC_19829295_ChIP-Seq_ESCs_Human0.58239645
122EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.57984183
123TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.57383331
124FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.57070350
125KLF5_20875108_ChIP-Seq_MESCs_Mouse0.56700570
126CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.56197524
127KLF4_18555785_Chip-Seq_ESCs_Mouse0.55776264
128CBP_20019798_ChIP-Seq_JUKART_Human0.55298155
129IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.55298155
130PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.55100781
131SUZ12_18555785_Chip-Seq_ESCs_Mouse0.55007122
132P53_22387025_ChIP-Seq_ESCs_Mouse0.54562060
133CTCF_18555785_Chip-Seq_ESCs_Mouse0.53884776
134CTBP1_25329375_ChIP-Seq_LNCAP_Human0.53636881
135SPI1_26923725_Chip-Seq_HPCs_Mouse0.53325252
136FOXH1_21741376_ChIP-Seq_EPCs_Human0.52988030
137CMYC_18555785_Chip-Seq_ESCs_Mouse0.52836637
138SPI1_20517297_ChIP-Seq_HL60_Human0.52689971
139SOX2_18555785_Chip-Seq_ESCs_Mouse0.52482604
140FOXA1_25552417_ChIP-Seq_VCAP_Human0.51970073
141FLI1_21867929_ChIP-Seq_TH2_Mouse0.51781657
142PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.50954511
143RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.49749837
144NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.49592995

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.37426569
2MP0005360_urolithiasis7.67678947
3MP0005085_abnormal_gallbladder_physiolo6.59700398
4MP0005365_abnormal_bile_salt6.32170569
5MP0008875_abnormal_xenobiotic_pharmacok5.21255858
6MP0003252_abnormal_bile_duct4.08690827
7MP0003806_abnormal_nucleotide_metabolis4.06075341
8MP0010329_abnormal_lipoprotein_level3.49471470
9MP0005083_abnormal_biliary_tract2.96477696
10MP0009840_abnormal_foam_cell2.80793793
11MP0003195_calcinosis2.76288967
12MP0005332_abnormal_amino_acid2.70414611
13MP0001666_abnormal_nutrient_absorption2.49386731
14MP0004019_abnormal_vitamin_homeostasis2.22658528
15MP0000609_abnormal_liver_physiology2.13392648
16MP0002118_abnormal_lipid_homeostasis2.10802092
17MP0002138_abnormal_hepatobiliary_system1.98138418
18MP0003868_abnormal_feces_composition1.94589441
19MP0003191_abnormal_cellular_cholesterol1.86607146
20MP0005319_abnormal_enzyme/_coenzyme1.85418957
21MP0001764_abnormal_homeostasis1.69132571
22MP0009697_abnormal_copulation1.65502871
23MP0005451_abnormal_body_composition1.55964579
24MP0005584_abnormal_enzyme/coenzyme_acti1.53329168
25MP0003011_delayed_dark_adaptation1.51582343
26MP0005410_abnormal_fertilization1.30970002
27MP0005647_abnormal_sex_gland1.22925522
28MP0009643_abnormal_urine_homeostasis1.16719571
29MP0003186_abnormal_redox_activity1.15814986
30MP0000598_abnormal_liver_morphology1.14608236
31MP0003656_abnormal_erythrocyte_physiolo1.09319380
32MP0005670_abnormal_white_adipose1.07556121
33MP0003705_abnormal_hypodermis_morpholog1.07310809
34MP0009764_decreased_sensitivity_to0.99124284
35MP0002282_abnormal_trachea_morphology0.98806020
36MP0000604_amyloidosis0.98788466
37MP0009763_increased_sensitivity_to0.96536083
38MP0002254_reproductive_system_inflammat0.95776078
39MP0005636_abnormal_mineral_homeostasis0.92363438
40MP0010368_abnormal_lymphatic_system0.88776945
41MP0008469_abnormal_protein_level0.85899667
42MP0009642_abnormal_blood_homeostasis0.84879603
43MP0005084_abnormal_gallbladder_morpholo0.83582364
44MP0005535_abnormal_body_temperature0.82981776
45MP0002971_abnormal_brown_adipose0.82553523
46MP0002876_abnormal_thyroid_physiology0.80034531
47MP0006036_abnormal_mitochondrial_physio0.79506813
48MP0005187_abnormal_penis_morphology0.79065114
49MP0001661_extended_life_span0.77433609
50MP0009785_altered_susceptibility_to0.77045397
51MP0002078_abnormal_glucose_homeostasis0.76669181
52MP0005376_homeostasis/metabolism_phenot0.75706164
53MP0001915_intracranial_hemorrhage0.74901287
54MP0004130_abnormal_muscle_cell0.73107452
55MP0004381_abnormal_hair_follicle0.72969906
56MP0009765_abnormal_xenobiotic_induced0.71150579
57MP0005408_hypopigmentation0.70199639
58MP0005334_abnormal_fat_pad0.69885668
59MP0005220_abnormal_exocrine_pancreas0.66903011
60MP0003879_abnormal_hair_cell0.64535459
61MP0002928_abnormal_bile_duct0.63048798
62MP0002249_abnormal_larynx_morphology0.61093785
63MP0003690_abnormal_glial_cell0.60593297
64MP0006035_abnormal_mitochondrial_morpho0.60137946
65MP0005266_abnormal_metabolism0.59330210
66MP0002332_abnormal_exercise_endurance0.58590773
67MP0001756_abnormal_urination0.55942599
68MP0003329_amyloid_beta_deposits0.54936536
69MP0000639_abnormal_adrenal_gland0.53060200
70MP0005448_abnormal_energy_balance0.52955664
71MP0008872_abnormal_physiological_respon0.49658637
72MP0003724_increased_susceptibility_to0.48110322
73MP0000579_abnormal_nail_morphology0.47422644
74MP0003718_maternal_effect0.47167042
75MP0002837_dystrophic_cardiac_calcinosis0.46214475
76MP0008874_decreased_physiological_sensi0.45768180
77MP0002822_catalepsy0.44160048
78MP0005023_abnormal_wound_healing0.43665405
79MP0005395_other_phenotype0.43562594
80MP0000427_abnormal_hair_cycle0.42524941
81MP0008873_increased_physiological_sensi0.42229769
82MP0003953_abnormal_hormone_level0.41280712
83MP0005166_decreased_susceptibility_to0.39603257
84MP0001545_abnormal_hematopoietic_system0.39102708
85MP0005397_hematopoietic_system_phenotyp0.39102708
86MP0002136_abnormal_kidney_physiology0.39067140
87MP0002796_impaired_skin_barrier0.38861861
88MP0003638_abnormal_response/metabolism_0.38770668
89MP0005666_abnormal_adipose_tissue0.38770037
90MP0009053_abnormal_anal_canal0.38680644
91MP0005464_abnormal_platelet_physiology0.36928880
92MP0000467_abnormal_esophagus_morphology0.36739243
93MP0000230_abnormal_systemic_arterial0.35549000
94MP0009115_abnormal_fat_cell0.32778841
95MP0003075_altered_response_to0.32708222
96MP0003698_abnormal_male_reproductive0.32027281
97MP0005164_abnormal_response_to0.31621772
98MP0002970_abnormal_white_adipose0.31259190
99MP0003436_decreased_susceptibility_to0.30790278
100MP0004782_abnormal_surfactant_physiolog0.28853555
101MP0004883_abnormal_blood_vessel0.28768940
102MP0009672_abnormal_birth_weight0.26671411
103MP0001765_abnormal_ion_homeostasis0.26670698
104MP0009384_cardiac_valve_regurgitation0.26563094
105MP0001929_abnormal_gametogenesis0.26441154
106MP0005595_abnormal_vascular_smooth0.26263512
107MP0002132_abnormal_respiratory_system0.25871372
108MP0006292_abnormal_olfactory_placode0.25205239
109MP0002060_abnormal_skin_morphology0.24899992
110MP0000249_abnormal_blood_vessel0.24794497
111MP0001845_abnormal_inflammatory_respons0.24364684
112MP0002168_other_aberrant_phenotype0.24110773
113MP0002161_abnormal_fertility/fecundity0.23539739
114MP0003699_abnormal_female_reproductive0.23498683
115MP0001986_abnormal_taste_sensitivity0.20961899
116MP0001851_eye_inflammation0.18972409
117MP0002234_abnormal_pharynx_morphology0.18517181
118MP0002135_abnormal_kidney_morphology0.18326722
119MP0010155_abnormal_intestine_physiology0.17958758
120MP0005646_abnormal_pituitary_gland0.17168991
121MP0003633_abnormal_nervous_system0.16679945
122MP0002128_abnormal_blood_circulation0.16495220
123MP0001881_abnormal_mammary_gland0.15897482

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.59482468
2Deep venous thrombosis (HP:0002625)7.34599209
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.29700081
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71150160
5Prolonged partial thromboplastin time (HP:0003645)6.70595386
6Hypobetalipoproteinemia (HP:0003563)6.34848229
7Xanthomatosis (HP:0000991)6.26322270
8Complement deficiency (HP:0004431)5.79322028
9Hyperlipoproteinemia (HP:0010980)5.42530750
10Epidermoid cyst (HP:0200040)5.05219260
11Joint hemorrhage (HP:0005261)4.76809653
12Hypolipoproteinemia (HP:0010981)4.68409601
13Hyperammonemia (HP:0001987)4.44038283
14Hyperglycinemia (HP:0002154)4.37273291
15Abnormality of the common coagulation pathway (HP:0010990)4.33766399
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.33068172
17Abnormality of methionine metabolism (HP:0010901)4.23578354
18Abnormality of complement system (HP:0005339)4.23052886
19Fat malabsorption (HP:0002630)4.20993931
20Abnormality of aspartate family amino acid metabolism (HP:0010899)4.12186414
21Ketosis (HP:0001946)4.11146593
22Abnormality of sulfur amino acid metabolism (HP:0004339)4.10239231
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.10037297
24Abnormality of pyrimidine metabolism (HP:0004353)4.05695345
25Hypoalphalipoproteinemia (HP:0003233)4.03707416
26Hyperglycinuria (HP:0003108)3.79591576
27Conjugated hyperbilirubinemia (HP:0002908)3.79550833
28Abnormality of glycine metabolism (HP:0010895)3.77794971
29Abnormality of serine family amino acid metabolism (HP:0010894)3.77794971
30Hypoglycemic coma (HP:0001325)3.67527660
31Abnormality of the intrinsic pathway (HP:0010989)3.61600315
32Hypercholesterolemia (HP:0003124)3.60601211
33Spontaneous abortion (HP:0005268)3.38161136
34Hyperbilirubinemia (HP:0002904)3.23668780
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.22437634
36Steatorrhea (HP:0002570)3.13398944
37Abnormality of nucleobase metabolism (HP:0010932)3.08076399
38Abnormality of fatty-acid metabolism (HP:0004359)3.07719314
39Abnormality of serum amino acid levels (HP:0003112)3.05523498
40Myocardial infarction (HP:0001658)2.94598476
41Skin nodule (HP:0200036)2.92467307
42Delayed CNS myelination (HP:0002188)2.90694322
43Ketoacidosis (HP:0001993)2.88016674
44Neonatal hypoglycemia (HP:0001998)2.86805905
45Hepatocellular carcinoma (HP:0001402)2.83842033
46Systemic lupus erythematosus (HP:0002725)2.83135600
47Acanthocytosis (HP:0001927)2.81695371
48Hypochromic microcytic anemia (HP:0004840)2.74149500
49Vascular calcification (HP:0004934)2.70820748
50Fair hair (HP:0002286)2.70043781
51Recurrent gram-negative bacterial infections (HP:0005420)2.62145765
52Metabolic acidosis (HP:0001942)2.59669345
53Abnormality of purine metabolism (HP:0004352)2.59266926
54Dicarboxylic aciduria (HP:0003215)2.49050042
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.49050042
56Lethargy (HP:0001254)2.47538284
57Glomerulonephritis (HP:0000099)2.45521879
58Cerebral edema (HP:0002181)2.44665336
59Gout (HP:0001997)2.43757676
60Abnormal gallbladder morphology (HP:0012437)2.40579439
61Cardiovascular calcification (HP:0011915)2.40468588
62Purpura (HP:0000979)2.40362105
63Abnormal gallbladder physiology (HP:0012438)2.36928879
64Cholecystitis (HP:0001082)2.36928879
65Hypoglycemic seizures (HP:0002173)2.35492961
66Neonatal onset (HP:0003623)2.35404092
67Spastic diplegia (HP:0001264)2.35056248
68Pulmonary embolism (HP:0002204)2.33043659
69Cholelithiasis (HP:0001081)2.31773844
70Osteomalacia (HP:0002749)2.29785265
71Mitral stenosis (HP:0001718)2.29592027
72Irritability (HP:0000737)2.25268903
73Esophageal varix (HP:0002040)2.23341611
74Enlarged kidneys (HP:0000105)2.23320587
75Hyperinsulinemic hypoglycemia (HP:0000825)2.20834759
76Joint swelling (HP:0001386)2.13858365
77Renal cortical cysts (HP:0000803)2.12253300
78Brushfield spots (HP:0001088)2.12049218
79Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.11795802
80Amyloidosis (HP:0011034)2.10051933
81Menorrhagia (HP:0000132)2.08465380
82Pancreatitis (HP:0001733)2.07646116
83Abnormality of iron homeostasis (HP:0011031)2.04784600
84Poikilocytosis (HP:0004447)2.03329647
85Gingival bleeding (HP:0000225)2.02283921
86Sensorimotor neuropathy (HP:0007141)2.01875999
87Thrombophlebitis (HP:0004418)2.00980167
88Malnutrition (HP:0004395)2.00329120
89Abnormality of the gallbladder (HP:0005264)2.00273620
90Increased serum ferritin (HP:0003281)1.99495813
91Rickets (HP:0002748)1.94693079
92Late onset (HP:0003584)1.94407829
93Generalized hypopigmentation of hair (HP:0011358)1.92912129
94Gangrene (HP:0100758)1.91054524
95Vomiting (HP:0002013)1.90638239
96Hypophosphatemic rickets (HP:0004912)1.89795567
97Reduced antithrombin III activity (HP:0001976)1.89328868
98Cerebral palsy (HP:0100021)1.87976664
99Hemorrhage of the eye (HP:0011885)1.87900668
100Arthropathy (HP:0003040)1.85666131
101Opisthotonus (HP:0002179)1.85047628
102Elevated alkaline phosphatase (HP:0003155)1.84710433
103Abnormal enzyme/coenzyme activity (HP:0012379)1.81588362
104Elevated hepatic transaminases (HP:0002910)1.78588245
105Generalized aminoaciduria (HP:0002909)1.78500031
106Epistaxis (HP:0000421)1.75429740
107Abnormal cartilage morphology (HP:0002763)1.75276783
108Alkalosis (HP:0001948)1.75089908
109Abnormality of vitamin metabolism (HP:0100508)1.73640987
110Status epilepticus (HP:0002133)1.73276507
111Nephritis (HP:0000123)1.72791185
112Hyperphosphaturia (HP:0003109)1.72789006
113Acute hepatic failure (HP:0006554)1.72431756
114Stroke (HP:0001297)1.72317082
115Abnormality of transition element cation homeostasis (HP:0011030)1.72064637
116Proximal tubulopathy (HP:0000114)1.71037623
117Abnormality of alkaline phosphatase activity (HP:0004379)1.69514499
118Blue irides (HP:0000635)1.69059782
119Abnormality of proline metabolism (HP:0010907)1.63978381
120Hydroxyprolinuria (HP:0003080)1.63978381
121Abnormality of urine glucose concentration (HP:0011016)1.59665977
122Glycosuria (HP:0003076)1.59665977
123Atrioventricular block (HP:0001678)1.58020281
124Increased mean platelet volume (HP:0011877)1.55720939
125Abnormality of the Achilles tendon (HP:0005109)1.55594612
126Abnormal delivery (HP:0001787)1.54346296
127Abnormal biliary tract physiology (HP:0012439)1.51828007
128Bile duct proliferation (HP:0001408)1.51828007
129Bifid scrotum (HP:0000048)1.46517468

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.62989532
2SIK14.25082644
3FGFR43.99442402
4ERN13.82061018
5INSRR3.53844375
6ERBB43.26279217
7TAOK32.75832312
8PDK42.61237080
9PDK32.61237080
10MAP2K42.54451098
11MST1R2.33889084
12PIK3CA2.19536263
13PIK3CG2.04874912
14NTRK31.83034949
15LATS11.82583873
16FRK1.77092536
17MAPK111.75370276
18TNK21.70688093
19FLT31.61293387
20PKN21.53641420
21ABL21.53199794
22PDK21.51131504
23FGFR21.48712695
24EIF2AK31.37649233
25RIPK11.36927428
26STK38L1.26213940
27DAPK21.22824164
28PTK61.18987214
29STK161.15717577
30KDR1.14189334
31PRKAA21.13789633
32BCR1.11865487
33PKN11.11281946
34PRKG11.10162606
35TYK21.09754622
36IRAK11.06721082
37MAPK151.03625250
38MAPK40.97587171
39MAP3K70.96882433
40JAK20.96328004
41MAP4K20.94934053
42PRKCZ0.93103813
43PINK10.91919305
44BMPR1B0.91738140
45NEK90.91508389
46WNK30.90833744
47GRK60.90197357
48ERBB20.90026947
49MAP3K140.89024517
50EPHB10.87971471
51CAMK1D0.86492702
52ADRBK20.86375633
53BRSK20.86246632
54CSK0.86221506
55JAK10.80612308
56BLK0.79889879
57CDK60.79248769
58PRKACG0.78034411
59CAMK2G0.75824637
60CAMKK20.74283608
61IRAK20.74151404
62MET0.71254895
63TRIB30.69798840
64TBK10.69202006
65AKT30.67936815
66MAPK120.67410749
67MAP3K110.67223906
68PRKCQ0.67160116
69MAP3K100.66162843
70PRKAA10.65022304
71EPHA40.64703295
72GSK3A0.63927680
73CSNK1D0.62920576
74PRKACB0.62346305
75MAP2K60.62278544
76PTK2B0.60734492
77ICK0.59679797
78GRK10.59229123
79PRKCB0.58281603
80GRK70.57579141
81DYRK1A0.56508167
82CSNK1E0.56438000
83TEC0.55985114
84IRAK30.55003718
85PDK10.54780766
86PRKCG0.54535017
87PRKCE0.54088522
88PDPK10.53813624
89MAP3K30.53700999
90MAP3K20.53548813
91IKBKE0.52865061
92IKBKB0.52783465
93TIE10.52758127
94CSNK2A10.52515535
95KIT0.51992266
96CSF1R0.51697324
97CAMK1G0.51354726
98RPS6KA30.50676065
99EGFR0.50640798
100PTK20.49836296
101SGK10.49097849
102MAP2K30.48715706
103MAP3K60.46157709
104MAPK70.45768411
105CHUK0.44921414
106PIM20.43599563
107MYLK0.43262240
108SRC0.43169306
109MAP3K130.43116827
110ACVR1B0.42568232
111DYRK1B0.42395243
112PBK0.42377571
113EPHA30.41153211
114IGF1R0.40375436
115MAP2K10.39291143
116MAP3K50.39216300
117CSNK1A10.38511675
118NLK0.37603856
119PRPF4B0.37162853
120TGFBR20.37157705
121EIF2AK20.36801948
122CSNK1G10.36590635
123CDK40.33951804
124MAP2K20.33344632
125ARAF0.33293260
126CSNK2A20.32401823
127MAPK30.32141269
128STK30.32072500
129ERBB30.31590913
130PRKCA0.31402881
131FER0.31054860
132AKT20.31021862
133SGK30.29672796
134LMTK20.29198291
135STK380.28986085
136CDK120.26955133
137ABL10.24905811
138CSNK1G20.24149535
139FGFR30.22172808
140PRKACA0.22139796
141CAMK2A0.21123945

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005115.04585529
2Primary bile acid biosynthesis_Homo sapiens_hsa001204.70538753
3Nitrogen metabolism_Homo sapiens_hsa009103.55607915
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.46159341
5Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.29950890
6Arginine biosynthesis_Homo sapiens_hsa002203.01292203
7Complement and coagulation cascades_Homo sapiens_hsa046102.79493939
8Tryptophan metabolism_Homo sapiens_hsa003802.69983500
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.59739449
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.53223100
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.49403260
12Fatty acid degradation_Homo sapiens_hsa000712.46380236
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.30269713
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.28395321
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.16718496
16Propanoate metabolism_Homo sapiens_hsa006402.08883584
17Peroxisome_Homo sapiens_hsa041462.08234167
18Butanoate metabolism_Homo sapiens_hsa006502.08060249
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.97827985
20Chemical carcinogenesis_Homo sapiens_hsa052041.96385193
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.95193222
22Histidine metabolism_Homo sapiens_hsa003401.92289967
23PPAR signaling pathway_Homo sapiens_hsa033201.90573855
24Caffeine metabolism_Homo sapiens_hsa002321.83802559
25Fatty acid metabolism_Homo sapiens_hsa012121.76866094
26Staphylococcus aureus infection_Homo sapiens_hsa051501.73691339
27Retinol metabolism_Homo sapiens_hsa008301.73514106
28Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.72525788
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.72512867
30beta-Alanine metabolism_Homo sapiens_hsa004101.72454784
31Drug metabolism - other enzymes_Homo sapiens_hsa009831.71575076
32Selenocompound metabolism_Homo sapiens_hsa004501.70044437
33Phenylalanine metabolism_Homo sapiens_hsa003601.63944502
34Bile secretion_Homo sapiens_hsa049761.49873150
35Pyruvate metabolism_Homo sapiens_hsa006201.46481048
36Tyrosine metabolism_Homo sapiens_hsa003501.46134328
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43035020
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.35724781
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.34656882
40Fatty acid elongation_Homo sapiens_hsa000621.33852803
41Sulfur metabolism_Homo sapiens_hsa009201.31714472
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.28986846
43Starch and sucrose metabolism_Homo sapiens_hsa005001.26678147
44ABC transporters_Homo sapiens_hsa020101.26070611
45Biosynthesis of amino acids_Homo sapiens_hsa012301.23165881
46Steroid biosynthesis_Homo sapiens_hsa001001.23006960
47Carbon metabolism_Homo sapiens_hsa012001.16296329
48Fat digestion and absorption_Homo sapiens_hsa049751.09502575
49Folate biosynthesis_Homo sapiens_hsa007901.08678304
50Vitamin B6 metabolism_Homo sapiens_hsa007501.08028791
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.07677125
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.96283568
53Arginine and proline metabolism_Homo sapiens_hsa003300.92888904
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.88405121
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87666630
56Sulfur relay system_Homo sapiens_hsa041220.87600035
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.86538506
58Vitamin digestion and absorption_Homo sapiens_hsa049770.84184217
59Lysine degradation_Homo sapiens_hsa003100.82546422
60Pentose phosphate pathway_Homo sapiens_hsa000300.82284754
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81952380
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81259341
63Glycerolipid metabolism_Homo sapiens_hsa005610.78744373
64Glutathione metabolism_Homo sapiens_hsa004800.68284132
65Fatty acid biosynthesis_Homo sapiens_hsa000610.66771566
66One carbon pool by folate_Homo sapiens_hsa006700.64535837
67Metabolic pathways_Homo sapiens_hsa011000.49929450
68Pertussis_Homo sapiens_hsa051330.44623667
69Prion diseases_Homo sapiens_hsa050200.40123539
70Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36741737
71Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.32894143
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31919994
73Linoleic acid metabolism_Homo sapiens_hsa005910.29300094
74Glucagon signaling pathway_Homo sapiens_hsa049220.20635004
75Fructose and mannose metabolism_Homo sapiens_hsa000510.20494300
76Adipocytokine signaling pathway_Homo sapiens_hsa049200.18683848
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.18415060
78Insulin resistance_Homo sapiens_hsa049310.17283191
79Galactose metabolism_Homo sapiens_hsa000520.15944438
80Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.09848783
81Glycosaminoglycan degradation_Homo sapiens_hsa005310.04173301
82AMPK signaling pathway_Homo sapiens_hsa041520.00654756
83FoxO signaling pathway_Homo sapiens_hsa04068-0.2700834
84Mineral absorption_Homo sapiens_hsa04978-0.2691517
85Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2672766
86Hepatitis C_Homo sapiens_hsa05160-0.2533442
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014-0.2505696
88Type II diabetes mellitus_Homo sapiens_hsa04930-0.2455584
89Amoebiasis_Homo sapiens_hsa05146-0.2415812
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2138809
91Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2123011
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512-0.2122510
93Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1978579
94Ether lipid metabolism_Homo sapiens_hsa00565-0.1886634
95Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1883208
96African trypanosomiasis_Homo sapiens_hsa05143-0.1859457
97Sphingolipid metabolism_Homo sapiens_hsa00600-0.1754484
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1692265
99Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1636600
100Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1528109
101Insulin signaling pathway_Homo sapiens_hsa04910-0.1459929
102Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1100275
103Circadian rhythm_Homo sapiens_hsa04710-0.1068002
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0793769
105Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0632131
106Renin-angiotensin system_Homo sapiens_hsa04614-0.0570376
107Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0307241
108Serotonergic synapse_Homo sapiens_hsa04726-0.0140882

Most similar genes based on co-expression Upload to Enrichr

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