HAO1

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 one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)8.50420747
2omega-hydroxylase P450 pathway (GO:0097267)8.30845534
3L-phenylalanine catabolic process (GO:0006559)7.59699455
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.59699455
5L-phenylalanine metabolic process (GO:0006558)7.25493114
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.25493114
7aromatic amino acid family catabolic process (GO:0009074)6.92817035
8tryptophan catabolic process (GO:0006569)6.35890864
9indole-containing compound catabolic process (GO:0042436)6.35890864
10indolalkylamine catabolic process (GO:0046218)6.35890864
11drug metabolic process (GO:0017144)6.34063546
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.22818464
13kynurenine metabolic process (GO:0070189)6.22385246
14oxidative demethylation (GO:0070989)6.21005176
15bile acid biosynthetic process (GO:0006699)6.15739321
16tryptophan metabolic process (GO:0006568)5.96667688
17alpha-linolenic acid metabolic process (GO:0036109)5.73472311
18urea metabolic process (GO:0019627)5.71884706
19urea cycle (GO:0000050)5.71884706
20complement activation, alternative pathway (GO:0006957)5.67029180
21negative regulation of fibrinolysis (GO:0051918)5.66145633
22phenylpropanoid metabolic process (GO:0009698)5.65501232
23regulation of protein activation cascade (GO:2000257)5.62765575
24regulation of fibrinolysis (GO:0051917)5.49967149
25high-density lipoprotein particle remodeling (GO:0034375)5.47972300
26peptidyl-glutamic acid carboxylation (GO:0017187)5.44027695
27protein carboxylation (GO:0018214)5.44027695
28ethanol metabolic process (GO:0006067)5.37792402
29cysteine metabolic process (GO:0006534)5.32657466
30sulfur amino acid catabolic process (GO:0000098)5.31231813
31regulation of plasminogen activation (GO:0010755)5.31050418
32regulation of complement activation (GO:0030449)5.28108794
33nitrogen cycle metabolic process (GO:0071941)5.25692220
34* glyoxylate metabolic process (GO:0046487)5.25011140
35bile acid metabolic process (GO:0008206)5.19246177
36serine family amino acid catabolic process (GO:0009071)5.10420027
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.03300408
38aromatic amino acid family metabolic process (GO:0009072)5.02540061
39S-adenosylmethionine metabolic process (GO:0046500)4.97720647
40negative regulation of hemostasis (GO:1900047)4.93418819
41negative regulation of blood coagulation (GO:0030195)4.93418819
42regulation of triglyceride catabolic process (GO:0010896)4.86313551
43reverse cholesterol transport (GO:0043691)4.79821926
44tyrosine metabolic process (GO:0006570)4.78264002
45homocysteine metabolic process (GO:0050667)4.76872038
46regulation of cholesterol esterification (GO:0010872)4.76517721
47protein-lipid complex remodeling (GO:0034368)4.71939915
48macromolecular complex remodeling (GO:0034367)4.71939915
49plasma lipoprotein particle remodeling (GO:0034369)4.71939915
50alpha-amino acid catabolic process (GO:1901606)4.65508982
51triglyceride homeostasis (GO:0070328)4.62995446
52acylglycerol homeostasis (GO:0055090)4.62995446
53lysine metabolic process (GO:0006553)4.62359081
54lysine catabolic process (GO:0006554)4.62359081
55amino-acid betaine metabolic process (GO:0006577)4.58632703
56coenzyme catabolic process (GO:0009109)4.52933545
57alkaloid metabolic process (GO:0009820)4.52155499
58phospholipid efflux (GO:0033700)4.51425833
59indolalkylamine metabolic process (GO:0006586)4.49640867
60negative regulation of coagulation (GO:0050819)4.48485738
61negative regulation of cholesterol transport (GO:0032375)4.47826589
62negative regulation of sterol transport (GO:0032372)4.47826589
63glycine metabolic process (GO:0006544)4.47668945
64bile acid and bile salt transport (GO:0015721)4.47104664
65negative regulation of wound healing (GO:0061045)4.44840805
66cellular ketone body metabolic process (GO:0046950)4.44613638
67amine catabolic process (GO:0009310)4.40259932
68cellular biogenic amine catabolic process (GO:0042402)4.40259932
69imidazole-containing compound metabolic process (GO:0052803)4.35356540
70plasma lipoprotein particle clearance (GO:0034381)4.33073171
71regulation of humoral immune response (GO:0002920)4.28849093
72acute-phase response (GO:0006953)4.28823722
73cellular glucuronidation (GO:0052695)4.28068119
74cellular amino acid catabolic process (GO:0009063)4.27756421
75glutamate metabolic process (GO:0006536)4.24170221
76positive regulation of hemostasis (GO:1900048)4.23526871
77positive regulation of blood coagulation (GO:0030194)4.23526871
78serine family amino acid metabolic process (GO:0009069)4.19942193
79cholesterol efflux (GO:0033344)4.19025102
80ethanol oxidation (GO:0006069)4.17679005
81fat-soluble vitamin biosynthetic process (GO:0042362)4.16168726
82benzene-containing compound metabolic process (GO:0042537)4.15203238
83negative regulation of protein activation cascade (GO:2000258)4.12908555
84dicarboxylic acid biosynthetic process (GO:0043650)4.09755269
85hormone catabolic process (GO:0042447)4.09328111
86cellular modified amino acid catabolic process (GO:0042219)4.06225390
87fibrinolysis (GO:0042730)4.06114457
88intestinal cholesterol absorption (GO:0030299)4.03359683
89cytolysis (GO:0019835)4.03125907
90arginine metabolic process (GO:0006525)4.01294364
91aldehyde catabolic process (GO:0046185)4.00343449
92serine family amino acid biosynthetic process (GO:0009070)4.00297605
93complement activation, classical pathway (GO:0006958)3.98108520
94plasma lipoprotein particle assembly (GO:0034377)3.94913364
95low-density lipoprotein particle remodeling (GO:0034374)3.94518937
96daunorubicin metabolic process (GO:0044597)3.92949443
97polyketide metabolic process (GO:0030638)3.92949443
98doxorubicin metabolic process (GO:0044598)3.92949443
99blood coagulation, intrinsic pathway (GO:0007597)3.92444510
100complement activation (GO:0006956)3.91296073
101positive regulation of coagulation (GO:0050820)3.91109112
102flavonoid metabolic process (GO:0009812)3.90771334
103protein activation cascade (GO:0072376)3.85858103
104disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.85711580
105killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.85711580
106cofactor catabolic process (GO:0051187)3.85681345
107ketone body metabolic process (GO:1902224)3.84895466
108heme transport (GO:0015886)3.83976564
109opsonization (GO:0008228)3.83245061
110response to mercury ion (GO:0046689)3.80704525
111uronic acid metabolic process (GO:0006063)3.79700383
112glucuronate metabolic process (GO:0019585)3.79700383
113positive regulation of triglyceride lipase activity (GO:0061365)3.78033458
114positive regulation of lipoprotein lipase activity (GO:0051006)3.78033458
115phospholipid homeostasis (GO:0055091)3.77970306
116acetyl-CoA metabolic process (GO:0006084)3.76844611
117positive regulation of lipid catabolic process (GO:0050996)3.74137126
118very-low-density lipoprotein particle assembly (GO:0034379)3.73073931
119cholesterol homeostasis (GO:0042632)3.72425840
120regulation of bile acid biosynthetic process (GO:0070857)3.71302589
121xenobiotic metabolic process (GO:0006805)3.71209533
122* organic acid catabolic process (GO:0016054)3.70438327
123* carboxylic acid catabolic process (GO:0046395)3.70438327
124negative regulation of lipase activity (GO:0060192)3.68007970
125drug catabolic process (GO:0042737)3.66937416
126sterol homeostasis (GO:0055092)3.66265522
127regulation of cholesterol homeostasis (GO:2000188)3.65732537
128positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.64016556
129short-chain fatty acid metabolic process (GO:0046459)3.60359721
130NAD biosynthetic process (GO:0009435)3.58964445
131plasma lipoprotein particle organization (GO:0071827)3.58428899
132steroid catabolic process (GO:0006706)3.57738102
133pyridine nucleotide biosynthetic process (GO:0019363)3.55797374
134nicotinamide nucleotide biosynthetic process (GO:0019359)3.55797374
135aminoglycoside antibiotic metabolic process (GO:0030647)3.51767611
136exogenous drug catabolic process (GO:0042738)10.0672656

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.38898853
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.20842877
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.11657693
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.51817341
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.32457444
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.09309061
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.75199281
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.08149919
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.00072407
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.06831093
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse12.0114566
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.96359700
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.94974507
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.62060261
15HTT_18923047_ChIP-ChIP_STHdh_Human1.59717586
16CLOCK_20551151_ChIP-Seq_293T_Human1.52503763
17GATA1_22025678_ChIP-Seq_K562_Human1.43732492
18HNF4A_19822575_ChIP-Seq_HepG2_Human1.40641344
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.25479409
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24010616
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21555219
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17971101
23TRIM28_21343339_ChIP-Seq_HEK293_Human1.07950664
24ESR1_15608294_ChIP-ChIP_MCF-7_Human1.04157958
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01973104
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97686668
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96086840
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95492245
29* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.88772895
30HNFA_21074721_ChIP-Seq_CACO-2_Human0.88380375
31CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.87123658
32IRF8_22096565_ChIP-ChIP_GC-B_Human0.86976611
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.85396213
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.84770457
35AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83415358
36PHF8_20622853_ChIP-Seq_HELA_Human0.82386621
37PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81500985
38RARG_19884340_ChIP-ChIP_MEFs_Mouse0.79465634
39KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78384352
40GATA4_25053715_ChIP-Seq_YYC3_Human0.78105609
41ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.77408639
42SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.77277314
43IRF1_19129219_ChIP-ChIP_H3396_Human0.77019543
44NFE2_27457419_Chip-Seq_LIVER_Mouse0.76892541
45PIAS1_25552417_ChIP-Seq_VCAP_Human0.76200185
46BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.75896312
47SOX2_21211035_ChIP-Seq_LN229_Human0.75875152
48TP53_18474530_ChIP-ChIP_U2OS_Human0.75477947
49Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.74980102
50SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.74784947
51RARA_24833708_ChIP-Seq_LIVER_Mouse0.74235971
52GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.73881711
53CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.72221744
54NFYA_21822215_ChIP-Seq_K562_Human0.70447879
55ZNF263_19887448_ChIP-Seq_K562_Human0.69105704
56AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.68847464
57SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68816230
58NRF2_20460467_ChIP-Seq_MEFs_Mouse0.67858166
59NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.67858166
60GATA6_21074721_ChIP-Seq_CACO-2_Human0.67645756
61EZH2_27294783_Chip-Seq_NPCs_Mouse0.66866217
62ESR2_21235772_ChIP-Seq_MCF-7_Human0.64383999
63RARB_24833708_ChIP-Seq_LIVER_Mouse0.63914514
64RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.63057457
65RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61143715
66FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.61126323
67ETV2_25802403_ChIP-Seq_MESCs_Mouse0.60984257
68CBX2_22325352_ChIP-Seq_293T-Rex_Human0.60190938
69NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.59672366
70SOX2_20726797_ChIP-Seq_SW620_Human0.59632444
71RAC3_21632823_ChIP-Seq_H3396_Human0.59549304
72BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.56838496
73CEBPB_22108803_ChIP-Seq_LS180_Human0.56837200
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.56634852
75NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.56575241
76EGR1_19032775_ChIP-ChIP_M12_Human0.55956154
77CDX2_22108803_ChIP-Seq_LS180_Human0.54642781
78SPI1_20517297_ChIP-Seq_HL60_Human0.53678246
79FOXA1_25552417_ChIP-Seq_VCAP_Human0.53636955
80FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.53296630
81CRX_20693478_ChIP-Seq_RETINA_Mouse0.52711793
82SUZ12_27294783_Chip-Seq_NPCs_Mouse0.52381554
83STAT3_1855785_ChIP-Seq_MESCs_Mouse0.52243575
84EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.52097117
85MYC_19915707_ChIP-ChIP_AK7_Human0.51911781
86TAF15_26573619_Chip-Seq_HEK293_Human0.51764100
87ETV1_20927104_ChIP-Seq_GIST48_Human0.51607730
88FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51586501
89KLF5_20875108_ChIP-Seq_MESCs_Mouse0.51444932
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.50261830
91FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.50136935
92* AR_20517297_ChIP-Seq_VCAP_Human0.50055680
93ESET_19884257_ChIP-Seq_ESCs_Mouse0.49441293
94SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.49029454
95PCGF2_27294783_Chip-Seq_NPCs_Mouse0.48986275
96CBP_21632823_ChIP-Seq_H3396_Human0.48922466
97* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.48739960
98GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.48664079
99LXR_22292898_ChIP-Seq_THP-1_Human0.48648887
100NFYB_21822215_ChIP-Seq_K562_Human0.48054143
101NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.47934107
102STAT1_17558387_ChIP-Seq_HELA_Human0.47714072
103RUNX1_27457419_Chip-Seq_LIVER_Mouse0.47105336
104PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46775628
105OCT4_21477851_ChIP-Seq_ESCs_Mouse0.46741009
106PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.46066962
107P53_21459846_ChIP-Seq_SAOS-2_Human0.45965485
108ESR1_21235772_ChIP-Seq_MCF-7_Human0.45847946
109* ERG_20517297_ChIP-Seq_VCAP_Human0.45620020
110CDX2_20551321_ChIP-Seq_CACO-2_Human0.44873433
111PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44318495
112FOXO3_23340844_ChIP-Seq_DLD1_Human0.44141781
113CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.42711997
114ESR1_20079471_ChIP-ChIP_T-47D_Human0.42150773
115BCAT_22108803_ChIP-Seq_LS180_Human0.41899037
116FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41694526
117TAF2_19829295_ChIP-Seq_ESCs_Human0.41546259
118E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.40496766
119BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.39699939
120GATA1_19941827_ChIP-Seq_MEL_Mouse0.39515518
121* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.39478575
122STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.39135985
123SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38490259
124PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38315464
125GATA1_19941826_ChIP-Seq_K562_Human0.38092575
126GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.37794651
127SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.37764619
128GATA2_19941826_ChIP-Seq_K562_Human0.37744385
129GATA6_25053715_ChIP-Seq_YYC3_Human0.37448318
130MYC_27129775_Chip-Seq_CORNEA_Mouse0.36876629
131LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.36333800
132ERG_21242973_ChIP-ChIP_JURKAT_Human0.35902806
133SPI1_26923725_Chip-Seq_HPCs_Mouse0.35808178
134FOXH1_21741376_ChIP-Seq_EPCs_Human0.34440324
135NCOR_22424771_ChIP-Seq_293T_Human0.34087909
136CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.33356961

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.33833152
2MP0005360_urolithiasis7.56447849
3MP0005085_abnormal_gallbladder_physiolo6.54206458
4MP0005365_abnormal_bile_salt6.22678995
5MP0008875_abnormal_xenobiotic_pharmacok4.95400080
6MP0003806_abnormal_nucleotide_metabolis4.32309065
7MP0003252_abnormal_bile_duct3.99132610
8MP0010329_abnormal_lipoprotein_level3.58847579
9MP0009840_abnormal_foam_cell3.20207096
10MP0005083_abnormal_biliary_tract3.12896907
11MP0003195_calcinosis2.78480028
12MP0005332_abnormal_amino_acid2.71504478
13MP0001666_abnormal_nutrient_absorption2.61058971
14MP0003191_abnormal_cellular_cholesterol2.30911876
15MP0000609_abnormal_liver_physiology2.17567024
16MP0002118_abnormal_lipid_homeostasis2.10260100
17MP0004019_abnormal_vitamin_homeostasis2.08370598
18MP0003868_abnormal_feces_composition1.98317949
19MP0002138_abnormal_hepatobiliary_system1.96030359
20MP0005319_abnormal_enzyme/_coenzyme1.83097844
21MP0001764_abnormal_homeostasis1.65733527
22MP0009697_abnormal_copulation1.61901979
23MP0005584_abnormal_enzyme/coenzyme_acti1.55928091
24MP0003011_delayed_dark_adaptation1.39991924
25MP0005451_abnormal_body_composition1.32842203
26MP0003186_abnormal_redox_activity1.24044603
27MP0003656_abnormal_erythrocyte_physiolo1.23150379
28MP0009643_abnormal_urine_homeostasis1.19626899
29MP0005647_abnormal_sex_gland1.19610082
30MP0000598_abnormal_liver_morphology1.18119888
31MP0003705_abnormal_hypodermis_morpholog1.16510613
32MP0000604_amyloidosis1.06360405
33MP0009764_decreased_sensitivity_to1.05088718
34MP0002254_reproductive_system_inflammat1.02466570
35MP0009763_increased_sensitivity_to1.02433586
36MP0010368_abnormal_lymphatic_system1.01228910
37MP0005636_abnormal_mineral_homeostasis0.90703387
38MP0008469_abnormal_protein_level0.89769516
39MP0009642_abnormal_blood_homeostasis0.86157738
40MP0005408_hypopigmentation0.83706436
41MP0005084_abnormal_gallbladder_morpholo0.82109956
42MP0006036_abnormal_mitochondrial_physio0.80211411
43MP0005187_abnormal_penis_morphology0.80040984
44MP0005376_homeostasis/metabolism_phenot0.79582883
45MP0005670_abnormal_white_adipose0.78577817
46MP0001915_intracranial_hemorrhage0.77212193
47MP0002078_abnormal_glucose_homeostasis0.76889054
48MP0009765_abnormal_xenobiotic_induced0.76730160
49MP0005220_abnormal_exocrine_pancreas0.76588553
50MP0002876_abnormal_thyroid_physiology0.76472727
51MP0003879_abnormal_hair_cell0.71138764
52MP0004130_abnormal_muscle_cell0.70860916
53MP0002971_abnormal_brown_adipose0.70823367
54MP0005334_abnormal_fat_pad0.68851699
55MP0005535_abnormal_body_temperature0.67944273
56MP0003690_abnormal_glial_cell0.66978355
57MP0005266_abnormal_metabolism0.64975235
58MP0001661_extended_life_span0.64449892
59MP0009053_abnormal_anal_canal0.63433564
60MP0000639_abnormal_adrenal_gland0.60324590
61MP0002282_abnormal_trachea_morphology0.59460224
62MP0003329_amyloid_beta_deposits0.58945187
63MP0006035_abnormal_mitochondrial_morpho0.58472869
64MP0001756_abnormal_urination0.55230992
65MP0004381_abnormal_hair_follicle0.53862489
66MP0005448_abnormal_energy_balance0.53714321
67MP0005464_abnormal_platelet_physiology0.52361804
68MP0002928_abnormal_bile_duct0.50545733
69MP0005023_abnormal_wound_healing0.49373739
70MP0005058_abnormal_lysosome_morphology0.48185688
71MP0005395_other_phenotype0.47566523
72MP0002822_catalepsy0.47159435
73MP0003724_increased_susceptibility_to0.45078138
74MP0002249_abnormal_larynx_morphology0.44982947
75MP0003718_maternal_effect0.44150502
76MP0003638_abnormal_response/metabolism_0.44000145
77MP0008873_increased_physiological_sensi0.43223051
78MP0003436_decreased_susceptibility_to0.42629291
79MP0008874_decreased_physiological_sensi0.42439105
80MP0002136_abnormal_kidney_physiology0.42410520
81MP0000579_abnormal_nail_morphology0.42324613
82MP0009384_cardiac_valve_regurgitation0.42299407
83MP0009785_altered_susceptibility_to0.42053165
84MP0005166_decreased_susceptibility_to0.41954259
85MP0003075_altered_response_to0.40395498
86MP0002837_dystrophic_cardiac_calcinosis0.39493348
87MP0003953_abnormal_hormone_level0.39412998
88MP0004782_abnormal_surfactant_physiolog0.38894235
89MP0005248_abnormal_Harderian_gland0.37772985
90MP0005666_abnormal_adipose_tissue0.36436282
91MP0002796_impaired_skin_barrier0.36180089
92MP0009672_abnormal_birth_weight0.34937847
93MP0009115_abnormal_fat_cell0.32122587
94MP0006082_CNS_inflammation0.31886362
95MP0008872_abnormal_physiological_respon0.31678712
96MP0000249_abnormal_blood_vessel0.30716803
97MP0000230_abnormal_systemic_arterial0.30703814
98MP0000467_abnormal_esophagus_morphology0.30694074
99MP0004883_abnormal_blood_vessel0.30549739
100MP0001853_heart_inflammation0.30508572
101MP0002970_abnormal_white_adipose0.30368807
102MP0001243_abnormal_dermal_layer0.29780885
103MP0001881_abnormal_mammary_gland0.29681818
104MP0002168_other_aberrant_phenotype0.29570892
105MP0001845_abnormal_inflammatory_respons0.27911825
106MP0000427_abnormal_hair_cycle0.26961053
107MP0002132_abnormal_respiratory_system0.26561952
108MP0001944_abnormal_pancreas_morphology0.25693268
109MP0002060_abnormal_skin_morphology0.25640823
110MP0005164_abnormal_response_to0.24933407
111MP0001851_eye_inflammation0.24910543
112MP0003959_abnormal_lean_body0.24347674
113MP0004142_abnormal_muscle_tone0.22933636
114MP0002332_abnormal_exercise_endurance0.22412750
115MP0005197_abnormal_uvea_morphology0.21360421
116MP0003632_abnormal_nervous_system0.20207556
117MP0002909_abnormal_adrenal_gland0.19358112
118MP0000566_synostosis0.17952304
119MP0002090_abnormal_vision0.16758997
120MP0000920_abnormal_myelination0.16093544

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.52986807
2Deep venous thrombosis (HP:0002625)7.45699582
3Abnormality of aromatic amino acid family metabolism (HP:0004338)7.31813349
4Prolonged partial thromboplastin time (HP:0003645)6.70400514
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.64445113
6Hypobetalipoproteinemia (HP:0003563)6.43104138
7Xanthomatosis (HP:0000991)6.27861323
8Complement deficiency (HP:0004431)5.84494631
9Hyperlipoproteinemia (HP:0010980)5.49787349
10Joint hemorrhage (HP:0005261)4.83669500
11Hypolipoproteinemia (HP:0010981)4.80564497
12Epidermoid cyst (HP:0200040)4.58789595
13Hyperammonemia (HP:0001987)4.57024918
14Abnormality of the common coagulation pathway (HP:0010990)4.56822352
15Hyperglycinemia (HP:0002154)4.47327243
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.38849529
17Abnormality of complement system (HP:0005339)4.27412634
18Fat malabsorption (HP:0002630)4.25831196
19Ketosis (HP:0001946)4.23129660
20Abnormality of methionine metabolism (HP:0010901)4.21286813
21Hypoalphalipoproteinemia (HP:0003233)4.18781229
22Abnormality of sulfur amino acid metabolism (HP:0004339)4.18416376
23Abnormality of aspartate family amino acid metabolism (HP:0010899)4.05829280
24Abnormality of glutamine family amino acid metabolism (HP:0010902)4.03355409
25Abnormality of the intrinsic pathway (HP:0010989)3.86705940
26Abnormality of glycine metabolism (HP:0010895)3.86189557
27Abnormality of serine family amino acid metabolism (HP:0010894)3.86189557
28Hypoglycemic coma (HP:0001325)3.85113489
29Hyperglycinuria (HP:0003108)3.83919376
30Abnormality of pyrimidine metabolism (HP:0004353)3.79291604
31Conjugated hyperbilirubinemia (HP:0002908)3.77379780
32Hypercholesterolemia (HP:0003124)3.56677059
33Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.36637875
34Hyperbilirubinemia (HP:0002904)3.32241100
35Abnormality of fatty-acid metabolism (HP:0004359)3.29993020
36Steatorrhea (HP:0002570)3.23819773
37Spontaneous abortion (HP:0005268)3.13435568
38Delayed CNS myelination (HP:0002188)3.07855393
39Abnormality of serum amino acid levels (HP:0003112)3.06677256
40Hypochromic microcytic anemia (HP:0004840)3.05602711
41Abnormality of nucleobase metabolism (HP:0010932)3.01242245
42Hepatocellular carcinoma (HP:0001402)3.00336142
43Myocardial infarction (HP:0001658)2.99115833
44Ketoacidosis (HP:0001993)2.98462180
45Systemic lupus erythematosus (HP:0002725)2.93083586
46Skin nodule (HP:0200036)2.83276371
47Osteomalacia (HP:0002749)2.79686267
48Metabolic acidosis (HP:0001942)2.70620344
49Recurrent gram-negative bacterial infections (HP:0005420)2.67217754
50Abnormality of purine metabolism (HP:0004352)2.62217566
51Acanthocytosis (HP:0001927)2.60693322
52Lethargy (HP:0001254)2.56141993
53Purpura (HP:0000979)2.53044438
54Dicarboxylic aciduria (HP:0003215)2.51996636
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.51996636
56Vascular calcification (HP:0004934)2.51779098
57Hypoglycemic seizures (HP:0002173)2.50049886
58Abnormal gallbladder morphology (HP:0012437)2.49181179
59Spastic diplegia (HP:0001264)2.46602938
60Fair hair (HP:0002286)2.44448992
61Glomerulonephritis (HP:0000099)2.42780545
62Cholelithiasis (HP:0001081)2.42774149
63Gout (HP:0001997)2.41262139
64Mitral stenosis (HP:0001718)2.41174068
65Abnormal gallbladder physiology (HP:0012438)2.40683001
66Cholecystitis (HP:0001082)2.40683001
67Cerebral edema (HP:0002181)2.39103337
68Neonatal onset (HP:0003623)2.38300691
69Pulmonary embolism (HP:0002204)2.37052208
70Hyperphosphaturia (HP:0003109)2.33729181
71Neonatal hypoglycemia (HP:0001998)2.33607852
72Irritability (HP:0000737)2.32144785
73Reduced antithrombin III activity (HP:0001976)2.30391582
74Amyloidosis (HP:0011034)2.29341343
75Gingival bleeding (HP:0000225)2.26926034
76Cardiovascular calcification (HP:0011915)2.23221991
77Malnutrition (HP:0004395)2.21709921
78Sensorimotor neuropathy (HP:0007141)2.20850603
79Esophageal varix (HP:0002040)2.19278261
80Abnormality of urine glucose concentration (HP:0011016)2.15876523
81Glycosuria (HP:0003076)2.15876523
82Menorrhagia (HP:0000132)2.13814624
83Pancreatitis (HP:0001733)2.13505232
84Brushfield spots (HP:0001088)2.11257411
85Thrombophlebitis (HP:0004418)2.10807225
86Arthropathy (HP:0003040)2.10307705
87Late onset (HP:0003584)2.09736983
88Bifid scrotum (HP:0000048)2.09471868
89Enlarged kidneys (HP:0000105)2.08999690
90Abnormality of the Achilles tendon (HP:0005109)2.08975036
91Hyperinsulinemic hypoglycemia (HP:0000825)2.03811471
92Abnormality of the gallbladder (HP:0005264)2.03395750
93Vomiting (HP:0002013)2.02148605
94Opisthotonus (HP:0002179)2.01832830
95Hemorrhage of the eye (HP:0011885)2.00020600
96Poikilocytosis (HP:0004447)1.99767474
97Generalized aminoaciduria (HP:0002909)1.96145294
98Increased mean platelet volume (HP:0011877)1.92730226
99Elevated alkaline phosphatase (HP:0003155)1.92116489
100Rickets (HP:0002748)1.91972417
101Abnormality of iron homeostasis (HP:0011031)1.89643483
102Abnormal urine phosphate concentration (HP:0012599)1.87265286
103Abnormal cartilage morphology (HP:0002763)1.86916018
104Abnormality of transition element cation homeostasis (HP:0011030)1.86450353
105Joint swelling (HP:0001386)1.86393577
106Renal cortical cysts (HP:0000803)1.84876698
107Abnormal enzyme/coenzyme activity (HP:0012379)1.83856429
108Elevated hepatic transaminases (HP:0002910)1.82453132
109Hypophosphatemic rickets (HP:0004912)1.81054637
110Status epilepticus (HP:0002133)1.77815039
111Hyperglycemia (HP:0003074)1.76056076
112Gangrene (HP:0100758)1.74973282
113Hydroxyprolinuria (HP:0003080)1.74322625
114Abnormality of proline metabolism (HP:0010907)1.74322625
115Abnormal platelet volume (HP:0011876)1.74033556
116Abnormality of alkaline phosphatase activity (HP:0004379)1.73548294
117Nephritis (HP:0000123)1.72399283
118Abnormality of vitamin metabolism (HP:0100508)1.72189122
119Alkalosis (HP:0001948)1.72112056
120Increased serum ferritin (HP:0003281)1.70008355
121Generalized hypopigmentation of hair (HP:0011358)1.69547824
122Epistaxis (HP:0000421)1.64991409
123Impaired platelet aggregation (HP:0003540)1.63722511
124Abnormal platelet function (HP:0011869)1.63722511
125Atrioventricular block (HP:0001678)1.61705135
126Cerebral palsy (HP:0100021)1.58886607
127Reticulocytosis (HP:0001923)1.51345349
128Abnormal biliary tract physiology (HP:0012439)1.51319477

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.00520149
2FGFR44.60843455
3ERN14.59233093
4SIK14.43289658
5ERBB43.34737837
6TAOK33.21706539
7INSRR2.98370357
8MAP3K22.53458434
9MAP2K42.36523991
10PRPF4B2.13071591
11MST1R2.10821490
12PKN22.09256839
13MAPK112.04106831
14NTRK31.93242321
15FLT31.86201133
16PIK3CG1.84332729
17LATS11.76642300
18TYK21.70737855
19TRIB31.67348390
20DAPK21.52756782
21ABL21.48769258
22NEK91.46308980
23PTK61.44957179
24FRK1.41047875
25FGFR21.40565679
26MAP3K121.39065191
27KDR1.29840699
28TNK21.28471171
29JAK21.28002507
30MYLK1.24219960
31MAP3K71.22754902
32NLK1.16257264
33ARAF1.15718724
34ERBB21.13722848
35PRKAA21.11644048
36PINK11.07715667
37JAK11.06128542
38GRK61.04590180
39TBK11.04127093
40MAP2K31.01567282
41MAPK41.00787862
42MAP3K141.00342010
43FER0.99614071
44MAP3K100.99569278
45CAMKK20.97412364
46PRKG10.92192679
47PRKCZ0.90527224
48EPHA30.86772466
49PRKACA0.86646074
50MET0.86226932
51STK38L0.85842979
52MAPK150.85829298
53EPHB10.84968706
54MAP3K90.84321463
55MAP3K30.82546836
56CDK60.81998632
57MAPK120.79159098
58KSR20.78792449
59CAMK2G0.76764995
60PRKACG0.75846018
61TIE10.74394601
62ZAP700.73888993
63EIF2AK10.73746661
64CAMK1D0.73303908
65CSNK1D0.72366406
66MAP3K110.69966294
67GSK3A0.67115486
68DYRK1B0.66425303
69SCYL20.66205198
70CSK0.66091176
71PRKAA10.65669455
72RIPK10.65093397
73IRAK30.63539172
74PRKCB0.62987701
75SGK30.62139853
76MAP4K20.61541067
77MAP2K60.61393157
78SGK10.61125385
79PIM20.60881137
80FGFR30.60845827
81PKN10.58482607
82MAPK70.57673750
83CSF1R0.57301909
84RPS6KA30.56288767
85IKBKE0.52834178
86TGFBR20.52709482
87PTK20.52275582
88PRKCQ0.50505337
89CASK0.49332913
90PDPK10.49288059
91STK160.48484597
92PRKACB0.47876677
93SRC0.47097918
94CSNK1G10.46584207
95CSNK1E0.46459964
96SGK20.45519771
97IGF1R0.44921772
98MAP3K50.44593142
99PDK20.42597293
100RET0.42506965
101GRK10.41508098
102CDK40.40769095
103MAP3K130.40531504
104EPHA40.40244270
105MAP2K10.39847059
106EGFR0.38960015
107PRKCG0.38877853
108TAOK20.38463470
109MAP3K60.37848158
110WNK30.37388130
111ICK0.37315771
112MTOR0.35451081
113MAPKAPK30.35119949
114CSNK1A10.34371064
115PBK0.33448197
116CAMK40.32273337
117PDK10.30027055
118LATS20.29859635
119SGK4940.29741969
120SGK2230.29741969
121IRAK10.29356890
122CAMK1G0.28485976
123MAP3K10.28379710
124CSNK1G20.25844048
125PRKCA0.25265997
126PIK3CA0.25171573
127IRAK20.24359594
128ABL10.23718168
129CSNK1G30.22131888
130PAK30.21547780
131BMX0.21378907
132PDK30.21139229

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.71120175
2Nitrogen metabolism_Homo sapiens_hsa009103.59104968
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.41100234
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.30243337
5Arginine biosynthesis_Homo sapiens_hsa002203.06345952
6Complement and coagulation cascades_Homo sapiens_hsa046102.88133177
7Tryptophan metabolism_Homo sapiens_hsa003802.71374969
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.68860761
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54877381
10Fatty acid degradation_Homo sapiens_hsa000712.50908839
11* Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.48020669
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.38845518
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.20909714
14Butanoate metabolism_Homo sapiens_hsa006502.16256918
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.07712605
16* Peroxisome_Homo sapiens_hsa041462.04883978
17Propanoate metabolism_Homo sapiens_hsa006401.92940818
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.91179801
19Chemical carcinogenesis_Homo sapiens_hsa052041.90212826
20PPAR signaling pathway_Homo sapiens_hsa033201.88916916
21Histidine metabolism_Homo sapiens_hsa003401.88236426
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.86936429
23Fatty acid metabolism_Homo sapiens_hsa012121.82550449
24Staphylococcus aureus infection_Homo sapiens_hsa051501.80226784
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.75919368
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.73370760
27beta-Alanine metabolism_Homo sapiens_hsa004101.70093921
28Retinol metabolism_Homo sapiens_hsa008301.69196444
29Caffeine metabolism_Homo sapiens_hsa002321.67563762
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66049500
31Selenocompound metabolism_Homo sapiens_hsa004501.59447908
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.59260117
33Phenylalanine metabolism_Homo sapiens_hsa003601.56451094
34Bile secretion_Homo sapiens_hsa049761.49144450
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.48934358
36Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.48631743
37Tyrosine metabolism_Homo sapiens_hsa003501.46591375
38Pyruvate metabolism_Homo sapiens_hsa006201.36323913
39Fatty acid elongation_Homo sapiens_hsa000621.35285106
40Sulfur metabolism_Homo sapiens_hsa009201.33002939
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.30761234
42Starch and sucrose metabolism_Homo sapiens_hsa005001.28755945
43ABC transporters_Homo sapiens_hsa020101.20452798
44Folate biosynthesis_Homo sapiens_hsa007901.20079235
45Steroid biosynthesis_Homo sapiens_hsa001001.19469768
46Biosynthesis of amino acids_Homo sapiens_hsa012301.18862623
47Fat digestion and absorption_Homo sapiens_hsa049751.16252949
48* Carbon metabolism_Homo sapiens_hsa012001.06664115
49Maturity onset diabetes of the young_Homo sapiens_hsa049501.05368041
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.04925606
51Vitamin B6 metabolism_Homo sapiens_hsa007501.04719566
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95947758
53Cyanoamino acid metabolism_Homo sapiens_hsa004600.94745541
54Sulfur relay system_Homo sapiens_hsa041220.94674902
55Arginine and proline metabolism_Homo sapiens_hsa003300.92878636
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87694263
57Vitamin digestion and absorption_Homo sapiens_hsa049770.84390782
58Lysine degradation_Homo sapiens_hsa003100.81126159
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.80742825
60One carbon pool by folate_Homo sapiens_hsa006700.76670548
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70408695
62Glycerolipid metabolism_Homo sapiens_hsa005610.66052638
63Glutathione metabolism_Homo sapiens_hsa004800.63355911
64Pentose phosphate pathway_Homo sapiens_hsa000300.58213546
65Fatty acid biosynthesis_Homo sapiens_hsa000610.56198087
66Prion diseases_Homo sapiens_hsa050200.48493817
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45224047
68* Metabolic pathways_Homo sapiens_hsa011000.45030297
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.44583340
70Pertussis_Homo sapiens_hsa051330.27643220
71Galactose metabolism_Homo sapiens_hsa000520.26348698
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25157080
73Fructose and mannose metabolism_Homo sapiens_hsa000510.23465771
74Insulin resistance_Homo sapiens_hsa049310.23455613
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.22782496
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18933047
77Linoleic acid metabolism_Homo sapiens_hsa005910.18176840
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.15333869
79Glucagon signaling pathway_Homo sapiens_hsa049220.11442418
80AMPK signaling pathway_Homo sapiens_hsa041520.01966108
81N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2679395
82Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2436927
83Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2381724
84Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2340036
85Ether lipid metabolism_Homo sapiens_hsa00565-0.2338973
86Bladder cancer_Homo sapiens_hsa05219-0.2307609
87Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2247842
88Type II diabetes mellitus_Homo sapiens_hsa04930-0.2205532
89Amoebiasis_Homo sapiens_hsa05146-0.2048605
90Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1978344
91Renin-angiotensin system_Homo sapiens_hsa04614-0.1965387
92Circadian rhythm_Homo sapiens_hsa04710-0.1944881
93Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1934907
94Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1737443
95Sphingolipid metabolism_Homo sapiens_hsa00600-0.1731009
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1725842
97Hepatitis C_Homo sapiens_hsa05160-0.1657280
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1547755
99Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1419387
100African trypanosomiasis_Homo sapiens_hsa05143-0.1386543
101Regulation of autophagy_Homo sapiens_hsa04140-0.1322772
102Insulin signaling pathway_Homo sapiens_hsa04910-0.0954511
103Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0898134
104Mineral absorption_Homo sapiens_hsa04978-0.0784036
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0781613
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0765687
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0735157
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0509564
109Other glycan degradation_Homo sapiens_hsa00511-0.0098330
110Serotonergic synapse_Homo sapiens_hsa04726-0.0081276

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