HGD

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 encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.41719884
2* L-phenylalanine catabolic process (GO:0006559)7.41719884
3* erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.09922671
4* L-phenylalanine metabolic process (GO:0006558)7.09922671
5* aromatic amino acid family catabolic process (GO:0009074)6.84900281
6epoxygenase P450 pathway (GO:0019373)6.58400513
7tryptophan catabolic process (GO:0006569)6.38927944
8indole-containing compound catabolic process (GO:0042436)6.38927944
9indolalkylamine catabolic process (GO:0046218)6.38927944
10kynurenine metabolic process (GO:0070189)6.15157874
11omega-hydroxylase P450 pathway (GO:0097267)6.11436629
12glyoxylate metabolic process (GO:0046487)6.08849199
13tryptophan metabolic process (GO:0006568)6.00723098
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.97900811
15bile acid biosynthetic process (GO:0006699)5.92640497
16cysteine metabolic process (GO:0006534)5.73367675
17urea metabolic process (GO:0019627)5.62962279
18urea cycle (GO:0000050)5.62962279
19alpha-linolenic acid metabolic process (GO:0036109)5.44501841
20sulfur amino acid catabolic process (GO:0000098)5.43195043
21negative regulation of fibrinolysis (GO:0051918)5.33617509
22serine family amino acid catabolic process (GO:0009071)5.32341838
23high-density lipoprotein particle remodeling (GO:0034375)5.26743353
24nitrogen cycle metabolic process (GO:0071941)5.19238018
25lysine catabolic process (GO:0006554)5.17285180
26lysine metabolic process (GO:0006553)5.17285180
27regulation of plasminogen activation (GO:0010755)5.17182677
28peptidyl-glutamic acid carboxylation (GO:0017187)5.13171972
29protein carboxylation (GO:0018214)5.13171972
30regulation of fibrinolysis (GO:0051917)5.12525031
31complement activation, alternative pathway (GO:0006957)5.11735562
32homocysteine metabolic process (GO:0050667)5.08503361
33fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.06475722
34regulation of protein activation cascade (GO:2000257)5.06133459
35bile acid metabolic process (GO:0008206)5.01769763
36very-low-density lipoprotein particle assembly (GO:0034379)4.96192624
37intestinal cholesterol absorption (GO:0030299)4.94351835
38* aromatic amino acid family metabolic process (GO:0009072)4.92006847
39negative regulation of hemostasis (GO:1900047)4.86766128
40negative regulation of blood coagulation (GO:0030195)4.86766128
41protein activation cascade (GO:0072376)4.81700503
42drug metabolic process (GO:0017144)4.79842747
43amino-acid betaine metabolic process (GO:0006577)4.78897344
44regulation of complement activation (GO:0030449)4.73300964
45* alpha-amino acid catabolic process (GO:1901606)4.72277056
46negative regulation of protein activation cascade (GO:2000258)4.65197424
47regulation of triglyceride catabolic process (GO:0010896)4.63118622
48regulation of cholesterol esterification (GO:0010872)4.61198738
49reverse cholesterol transport (GO:0043691)4.57435795
50cellular ketone body metabolic process (GO:0046950)4.55630715
51indolalkylamine metabolic process (GO:0006586)4.52282191
52plasma lipoprotein particle remodeling (GO:0034369)4.51321890
53protein-lipid complex remodeling (GO:0034368)4.51321890
54macromolecular complex remodeling (GO:0034367)4.51321890
55negative regulation of coagulation (GO:0050819)4.48962888
56positive regulation of blood coagulation (GO:0030194)4.47471357
57positive regulation of hemostasis (GO:1900048)4.47471357
58negative regulation of sterol transport (GO:0032372)4.46782109
59negative regulation of cholesterol transport (GO:0032375)4.46782109
60acylglycerol homeostasis (GO:0055090)4.44232070
61triglyceride homeostasis (GO:0070328)4.44232070
62glycine metabolic process (GO:0006544)4.42597260
63glutamate metabolic process (GO:0006536)4.41565516
64cellular biogenic amine catabolic process (GO:0042402)4.41411216
65amine catabolic process (GO:0009310)4.41411216
66serine family amino acid metabolic process (GO:0009069)4.41171910
67* cellular amino acid catabolic process (GO:0009063)4.37888577
68ethanol metabolic process (GO:0006067)4.36741581
69coenzyme catabolic process (GO:0009109)4.36727081
70plasma lipoprotein particle organization (GO:0071827)4.33105960
71regulation of humoral immune response (GO:0002920)4.33059303
72acute-phase response (GO:0006953)4.32207360
73negative regulation of wound healing (GO:0061045)4.31119942
74phospholipid efflux (GO:0033700)4.29954000
75cellular modified amino acid catabolic process (GO:0042219)4.28226765
76bile acid and bile salt transport (GO:0015721)4.26271003
77cellular glucuronidation (GO:0052695)4.24422571
78benzene-containing compound metabolic process (GO:0042537)4.24169111
79phenylpropanoid metabolic process (GO:0009698)4.23076634
80positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.22964533
81drug catabolic process (GO:0042737)4.22495676
82oxidative demethylation (GO:0070989)4.21165443
83imidazole-containing compound metabolic process (GO:0052803)4.19684123
84* tyrosine metabolic process (GO:0006570)4.18435621
85serine family amino acid biosynthetic process (GO:0009070)4.18278557
86plasma lipoprotein particle clearance (GO:0034381)4.15764598
87positive regulation of coagulation (GO:0050820)4.15240676
88complement activation (GO:0006956)4.13909557
89dicarboxylic acid biosynthetic process (GO:0043650)4.10942976
90ethanol oxidation (GO:0006069)4.10317678
91doxorubicin metabolic process (GO:0044598)4.10287560
92daunorubicin metabolic process (GO:0044597)4.10287560
93polyketide metabolic process (GO:0030638)4.10287560
94aldehyde catabolic process (GO:0046185)4.09965466
95protein-lipid complex subunit organization (GO:0071825)4.06561454
96urate metabolic process (GO:0046415)4.05482264
97arginine metabolic process (GO:0006525)4.03387798
98protein-lipid complex assembly (GO:0065005)4.02803726
99drug transmembrane transport (GO:0006855)4.00071171
100cholesterol efflux (GO:0033344)3.95510346
101short-chain fatty acid metabolic process (GO:0046459)3.95011571
102ketone body metabolic process (GO:1902224)3.94380928
103acetyl-CoA metabolic process (GO:0006084)3.89704967
104fibrinolysis (GO:0042730)3.84585636
105* carboxylic acid catabolic process (GO:0046395)3.83959758
106* organic acid catabolic process (GO:0016054)3.83959758
107uronic acid metabolic process (GO:0006063)3.82000635
108glucuronate metabolic process (GO:0019585)3.82000635
109aspartate family amino acid catabolic process (GO:0009068)3.80225693
110negative regulation of complement activation (GO:0045916)3.78094981
111low-density lipoprotein particle remodeling (GO:0034374)3.77030101
112plasma lipoprotein particle assembly (GO:0034377)3.76599449
113exogenous drug catabolic process (GO:0042738)3.74623346
114cytolysis (GO:0019835)3.72755696
115regulation of apoptotic cell clearance (GO:2000425)3.71996126
116aminoglycoside antibiotic metabolic process (GO:0030647)3.71111664
117regulation of bile acid biosynthetic process (GO:0070857)3.70755803
118cofactor catabolic process (GO:0051187)3.70616703
1192-oxoglutarate metabolic process (GO:0006103)3.68007843
120regulation of cholesterol homeostasis (GO:2000188)3.65942553
121S-adenosylmethionine metabolic process (GO:0046500)3.65810171
122phospholipid homeostasis (GO:0055091)3.62569385
123cholesterol homeostasis (GO:0042632)3.62406816
124positive regulation of triglyceride lipase activity (GO:0061365)3.60954409
125positive regulation of lipoprotein lipase activity (GO:0051006)3.60954409
126blood coagulation, intrinsic pathway (GO:0007597)3.60808360
127sterol homeostasis (GO:0055092)3.57976729
128opsonization (GO:0008228)3.57567606
129positive regulation of lipid catabolic process (GO:0050996)3.57482027
130complement activation, classical pathway (GO:0006958)3.56953893
131NAD biosynthetic process (GO:0009435)3.55935035
132negative regulation of lipase activity (GO:0060192)3.55601987
133monocarboxylic acid catabolic process (GO:0072329)3.55036965
134nicotinamide nucleotide biosynthetic process (GO:0019359)3.54633270
135positive regulation of fatty acid biosynthetic process (GO:0045723)3.54520341
136flavonoid metabolic process (GO:0009812)3.53305397
137lipoprotein metabolic process (GO:0042157)3.50822016
138sterol transport (GO:0015918)3.47744556
139cholesterol transport (GO:0030301)3.47744556
140acute inflammatory response (GO:0002526)3.44555381

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.37452222
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.18516961
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse6.84524905
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.46021671
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.22450786
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.98525504
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.88948110
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.01334285
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.96745786
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.09015966
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07908995
12* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.07416141
13* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8357269
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.61814535
15CLOCK_20551151_ChIP-Seq_293T_Human1.60090010
16HTT_18923047_ChIP-ChIP_STHdh_Human1.45378006
17* HNF4A_19822575_ChIP-Seq_HepG2_Human1.44110045
18CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35338782
19FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33798094
20GATA1_22025678_ChIP-Seq_K562_Human1.32853191
21TCF4_18268006_ChIP-ChIP_LS174T_Human1.31899155
22SOX2_20726797_ChIP-Seq_SW620_Human1.26488792
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21289929
24* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18517756
25RXRA_24833708_ChIP-Seq_LIVER_Mouse1.17804836
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05987606
27IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04555707
28TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.02713694
29STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01885294
30PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00584824
31SOX2_27498859_Chip-Seq_STOMACH_Mouse0.97182496
32ESR1_15608294_ChIP-ChIP_MCF-7_Human0.96297681
33RARG_19884340_ChIP-ChIP_MEFs_Mouse0.94665876
34ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92740201
35PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.90316379
36PIAS1_25552417_ChIP-Seq_VCAP_Human0.89052622
37CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.86616912
38GATA4_25053715_ChIP-Seq_YYC3_Human0.86235752
39PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86092291
40ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.85826838
41TRIM28_21343339_ChIP-Seq_HEK293_Human0.85370032
42NFE2_27457419_Chip-Seq_LIVER_Mouse0.83914099
43AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82922816
44IRF8_22096565_ChIP-ChIP_GC-B_Human0.82791961
45GATA2_21666600_ChIP-Seq_HMVEC_Human0.80465953
46LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.79463852
47ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77849182
48KAP1_22055183_ChIP-Seq_ESCs_Mouse0.77134809
49SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76854381
50BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.76354410
51ESR2_21235772_ChIP-Seq_MCF-7_Human0.75349210
52GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.73500815
53Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.73333801
54SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.72546804
55RARA_24833708_ChIP-Seq_LIVER_Mouse0.71512325
56SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71449384
57CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70889589
58* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.70639767
59SUZ12_27294783_Chip-Seq_NPCs_Mouse0.70320185
60EZH2_27294783_Chip-Seq_NPCs_Mouse0.70019289
61ZNF263_19887448_ChIP-Seq_K562_Human0.69930758
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.69715334
63SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68596192
64NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.68555970
65* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.67739459
66NRF2_20460467_ChIP-Seq_MEFs_Mouse0.65896456
67NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.65896456
68SMAD1_18555785_Chip-Seq_ESCs_Mouse0.65776600
69SRY_22984422_ChIP-ChIP_TESTIS_Rat0.65507336
70RUNX1_27457419_Chip-Seq_LIVER_Mouse0.64476533
71ESR1_21235772_ChIP-Seq_MCF-7_Human0.64107047
72RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63904465
73BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.63889115
74NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.63588132
75ESRRB_18555785_Chip-Seq_ESCs_Mouse0.63445687
76GATA3_24758297_ChIP-Seq_MCF-7_Human0.63298263
77OCT4_18555785_Chip-Seq_ESCs_Mouse0.61932109
78EGR1_19032775_ChIP-ChIP_M12_Human0.61365589
79SOX2_21211035_ChIP-Seq_LN229_Human0.61154972
80RARB_24833708_ChIP-Seq_LIVER_Mouse0.60867361
81HNFA_21074721_ChIP-Seq_CACO-2_Human0.60678953
82GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.59532499
83LXR_22292898_ChIP-Seq_THP-1_Human0.58849963
84CEBPB_22108803_ChIP-Seq_LS180_Human0.58790645
85STAT3_1855785_ChIP-Seq_MESCs_Mouse0.57804584
86PU1_27457419_Chip-Seq_LIVER_Mouse0.57669506
87LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.56337647
88TP53_18474530_ChIP-ChIP_U2OS_Human0.56131513
89TP53_16413492_ChIP-PET_HCT116_Human0.55784804
90EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.55652228
91CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.55116890
92AR_20517297_ChIP-Seq_VCAP_Human0.54515689
93CDX2_20551321_ChIP-Seq_CACO-2_Human0.54407284
94MYC_19915707_ChIP-ChIP_AK7_Human0.54394058
95ZFX_18555785_Chip-Seq_ESCs_Mouse0.54326797
96CBX2_22325352_ChIP-Seq_293T-Rex_Human0.53586220
97PCGF2_27294783_Chip-Seq_NPCs_Mouse0.53174539
98* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.52780898
99CTCF_18555785_Chip-Seq_ESCs_Mouse0.52217640
100PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.51981642
101* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51321311
102ESET_19884257_ChIP-Seq_ESCs_Mouse0.50581171
103* FOXA1_25552417_ChIP-Seq_VCAP_Human0.50024857
104CBP_21632823_ChIP-Seq_H3396_Human0.49688611
105STAT1_17558387_ChIP-Seq_HELA_Human0.48875471
106E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.48438395
107FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.48073025
108PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46048858
109FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.45519694
110P53_21459846_ChIP-Seq_SAOS-2_Human0.45359920
111TAF2_19829295_ChIP-Seq_ESCs_Human0.44839279
112GATA6_25053715_ChIP-Seq_YYC3_Human0.44208051
113FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43650490
114NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.43447799
115PPAR_26484153_Chip-Seq_NCI-H1993_Human0.41977205
116SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.41894866
117GATA1_19941827_ChIP-Seq_MEL_Mouse0.41780399
118TAF15_26573619_Chip-Seq_HEK293_Human0.41689359
119PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.41610299
120ERG_21242973_ChIP-ChIP_JURKAT_Human0.41548363
121* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.41206052
122GATA1_19941826_ChIP-Seq_K562_Human0.41203763
123GATA2_19941826_ChIP-Seq_K562_Human0.41046037
124GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.39713510
125* FOXO3_23340844_ChIP-Seq_DLD1_Human0.39309851
126BCAT_22108803_ChIP-Seq_LS180_Human0.38694211
127STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.38654151
128CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.38621117
129ESR1_20079471_ChIP-ChIP_T-47D_Human0.37451750
130MYC_27129775_Chip-Seq_CORNEA_Mouse0.37079739
131CDX2_22108803_ChIP-Seq_LS180_Human0.36603416
132CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.36386274
133LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.36179479
134SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.35851333
135EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.35781925
136SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.35651718
137GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.35546089

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.24351852
2MP0005360_urolithiasis7.85853962
3MP0005085_abnormal_gallbladder_physiolo6.29448607
4MP0005365_abnormal_bile_salt6.06578430
5MP0008875_abnormal_xenobiotic_pharmacok5.09254037
6MP0003806_abnormal_nucleotide_metabolis4.14119354
7MP0003252_abnormal_bile_duct3.92323807
8MP0010329_abnormal_lipoprotein_level3.42697580
9MP0003195_calcinosis3.08662062
10MP0009840_abnormal_foam_cell3.07614701
11* MP0005332_abnormal_amino_acid2.99754127
12MP0005083_abnormal_biliary_tract2.86817424
13MP0001666_abnormal_nutrient_absorption2.53745078
14MP0004019_abnormal_vitamin_homeostasis2.46921438
15MP0003191_abnormal_cellular_cholesterol2.27446037
16MP0002138_abnormal_hepatobiliary_system2.22314721
17MP0000609_abnormal_liver_physiology2.09219591
18MP0002118_abnormal_lipid_homeostasis2.05509790
19MP0005319_abnormal_enzyme/_coenzyme1.84884267
20MP0003868_abnormal_feces_composition1.82998818
21MP0001764_abnormal_homeostasis1.69941860
22MP0005584_abnormal_enzyme/coenzyme_acti1.62758365
23MP0002132_abnormal_respiratory_system1.53435703
24MP0005451_abnormal_body_composition1.50564895
25* MP0009643_abnormal_urine_homeostasis1.47827297
26MP0009697_abnormal_copulation1.41877583
27MP0003186_abnormal_redox_activity1.37367222
28MP0003011_delayed_dark_adaptation1.26273501
29MP0003656_abnormal_erythrocyte_physiolo1.16224673
30MP0005636_abnormal_mineral_homeostasis1.15737231
31MP0000598_abnormal_liver_morphology1.15494342
32MP0003705_abnormal_hypodermis_morpholog1.08698931
33MP0003879_abnormal_hair_cell1.07541836
34MP0005647_abnormal_sex_gland1.07406035
35MP0009764_decreased_sensitivity_to1.05330424
36MP0000604_amyloidosis1.01923394
37MP0001915_intracranial_hemorrhage0.99636046
38MP0009763_increased_sensitivity_to0.96004922
39MP0002254_reproductive_system_inflammat0.90184937
40MP0006036_abnormal_mitochondrial_physio0.89720593
41MP0009642_abnormal_blood_homeostasis0.88720053
42MP0008469_abnormal_protein_level0.88632313
43MP0003122_maternal_imprinting0.88421922
44MP0005670_abnormal_white_adipose0.85746736
45MP0001756_abnormal_urination0.85401910
46MP0002876_abnormal_thyroid_physiology0.85250611
47MP0005408_hypopigmentation0.84932014
48MP0005084_abnormal_gallbladder_morpholo0.84383516
49MP0010368_abnormal_lymphatic_system0.82613558
50MP0005376_homeostasis/metabolism_phenot0.77935748
51MP0002078_abnormal_glucose_homeostasis0.76559902
52MP0009765_abnormal_xenobiotic_induced0.75495787
53MP0005220_abnormal_exocrine_pancreas0.73638084
54MP0005535_abnormal_body_temperature0.72948991
55MP0009780_abnormal_chondrocyte_physiolo0.71378119
56MP0001661_extended_life_span0.70298911
57MP0004043_abnormal_pH_regulation0.69702722
58MP0002136_abnormal_kidney_physiology0.69449271
59MP0002971_abnormal_brown_adipose0.69277524
60MP0002089_abnormal_postnatal_growth/wei0.67080207
61MP0005334_abnormal_fat_pad0.64735254
62MP0002909_abnormal_adrenal_gland0.63683712
63MP0003690_abnormal_glial_cell0.63370070
64MP0004130_abnormal_muscle_cell0.62920582
65MP0003329_amyloid_beta_deposits0.62913825
66MP0005266_abnormal_metabolism0.62473935
67MP0005023_abnormal_wound_healing0.62245875
68MP0009053_abnormal_anal_canal0.60750852
69MP0005164_abnormal_response_to0.60416277
70MP0006035_abnormal_mitochondrial_morpho0.58918898
71MP0010386_abnormal_urinary_bladder0.58263452
72MP0003183_abnormal_peptide_metabolism0.57128456
73MP0005187_abnormal_penis_morphology0.55028740
74MP0000566_synostosis0.54754863
75MP0002928_abnormal_bile_duct0.54515409
76MP0000639_abnormal_adrenal_gland0.52052203
77MP0005395_other_phenotype0.51564997
78MP0003638_abnormal_response/metabolism_0.50909128
79MP0004272_abnormal_basement_membrane0.50095182
80MP0005167_abnormal_blood-brain_barrier0.49524141
81MP0005448_abnormal_energy_balance0.48645972
82MP0005410_abnormal_fertilization0.47917866
83MP0001765_abnormal_ion_homeostasis0.47475161
84MP0005646_abnormal_pituitary_gland0.47406874
85MP0003172_abnormal_lysosome_physiology0.45414824
86MP0005464_abnormal_platelet_physiology0.45115060
87MP0005409_darkened_coat_color0.44453441
88MP0008874_decreased_physiological_sensi0.43784712
89MP0003724_increased_susceptibility_to0.42811463
90MP0003718_maternal_effect0.42730759
91MP0008873_increased_physiological_sensi0.42495532
92MP0005666_abnormal_adipose_tissue0.42451480
93MP0003953_abnormal_hormone_level0.41572565
94MP0002822_catalepsy0.41542718
95MP0003566_abnormal_cell_adhesion0.41323724
96MP0000230_abnormal_systemic_arterial0.41115598
97MP0005058_abnormal_lysosome_morphology0.40072910
98MP0002168_other_aberrant_phenotype0.39875104
99MP0003075_altered_response_to0.39376086
100MP0002282_abnormal_trachea_morphology0.39359807
101MP0002837_dystrophic_cardiac_calcinosis0.38650597
102MP0008004_abnormal_stomach_pH0.38265377
103MP0004782_abnormal_surfactant_physiolog0.37988942
104MP0001944_abnormal_pancreas_morphology0.37941474
105MP0005166_decreased_susceptibility_to0.37893114
106MP0009672_abnormal_birth_weight0.37036189
107MP0005379_endocrine/exocrine_gland_phen0.37033717
108MP0002796_impaired_skin_barrier0.36516098
109MP0008872_abnormal_physiological_respon0.36420392
110MP0003436_decreased_susceptibility_to0.36265865
111MP0001851_eye_inflammation0.33678528
112MP0009785_altered_susceptibility_to0.33143014
113MP0005248_abnormal_Harderian_gland0.32642427
114MP0004381_abnormal_hair_follicle0.31226071
115MP0009115_abnormal_fat_cell0.30694401
116MP0002135_abnormal_kidney_morphology0.30476402
117MP0009384_cardiac_valve_regurgitation0.29555657
118MP0000579_abnormal_nail_morphology0.29351866
119MP0006082_CNS_inflammation0.29338589
120MP0001845_abnormal_inflammatory_respons0.28498724
121MP0010155_abnormal_intestine_physiology0.28498474
122MP0006054_spinal_hemorrhage0.28486812
123MP0000249_abnormal_blood_vessel0.28024382
124MP0000538_abnormal_urinary_bladder0.27863424
125MP0002970_abnormal_white_adipose0.27591370
126MP0001243_abnormal_dermal_layer0.25231350
127MP0004264_abnormal_extraembryonic_tissu0.24170701
128MP0004883_abnormal_blood_vessel0.23822633

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.40253161
2Intrahepatic cholestasis (HP:0001406)7.07032463
3Deep venous thrombosis (HP:0002625)7.01126925
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.56433629
5Prolonged partial thromboplastin time (HP:0003645)6.13821274
6Xanthomatosis (HP:0000991)6.13592404
7Hypobetalipoproteinemia (HP:0003563)6.05067559
8Hyperlipoproteinemia (HP:0010980)5.29443904
9Complement deficiency (HP:0004431)5.08500370
10Hyperammonemia (HP:0001987)4.73204734
11Abnormality of glutamine family amino acid metabolism (HP:0010902)4.63974276
12Joint hemorrhage (HP:0005261)4.59427101
13Hyperglycinemia (HP:0002154)4.58199875
14Hypolipoproteinemia (HP:0010981)4.51244152
15Ketosis (HP:0001946)4.48313265
16Abnormality of sulfur amino acid metabolism (HP:0004339)4.39867476
17Hyperglycinuria (HP:0003108)4.39036187
18Abnormality of aspartate family amino acid metabolism (HP:0010899)4.37684387
19Epidermoid cyst (HP:0200040)4.32204237
20Abnormality of glycine metabolism (HP:0010895)4.25762059
21Abnormality of serine family amino acid metabolism (HP:0010894)4.25762059
22Abnormality of methionine metabolism (HP:0010901)4.20961761
23Abnormality of the common coagulation pathway (HP:0010990)4.18421378
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.12934696
25Purpura (HP:0000979)4.06456239
26Fat malabsorption (HP:0002630)4.00348995
27Hypoalphalipoproteinemia (HP:0003233)3.94132061
28Abnormality of pyrimidine metabolism (HP:0004353)3.85449043
29Hypoglycemic coma (HP:0001325)3.82720769
30Abnormality of complement system (HP:0005339)3.68486398
31Abnormality of fatty-acid metabolism (HP:0004359)3.58490000
32Conjugated hyperbilirubinemia (HP:0002908)3.57170845
33Abnormality of the intrinsic pathway (HP:0010989)3.53867992
34Nephritis (HP:0000123)3.48949184
35Hypercholesterolemia (HP:0003124)3.39940217
36Abnormality of nucleobase metabolism (HP:0010932)3.38336187
37Ketoacidosis (HP:0001993)3.37049522
38Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.33607088
39Delayed CNS myelination (HP:0002188)3.32267110
40Gout (HP:0001997)3.27814828
41Hyperbilirubinemia (HP:0002904)3.27326954
42Abnormality of serum amino acid levels (HP:0003112)3.18987943
43Abnormality of purine metabolism (HP:0004352)3.14779759
44Steatorrhea (HP:0002570)3.02647298
45Hepatocellular carcinoma (HP:0001402)3.00695226
46Increased mean platelet volume (HP:0011877)2.98744562
47Metabolic acidosis (HP:0001942)2.94723255
48Epistaxis (HP:0000421)2.90542056
49Spontaneous abortion (HP:0005268)2.79249019
50Myocardial infarction (HP:0001658)2.78956610
51Lethargy (HP:0001254)2.77491075
52Dicarboxylic aciduria (HP:0003215)2.76857922
53Abnormality of dicarboxylic acid metabolism (HP:0010995)2.76857922
54Hypochromic microcytic anemia (HP:0004840)2.72503791
55Abnormal platelet volume (HP:0011876)2.69759863
56Skin nodule (HP:0200036)2.65333705
57Systemic lupus erythematosus (HP:0002725)2.65244571
58Prolonged bleeding time (HP:0003010)2.63551560
59Spastic diplegia (HP:0001264)2.54422782
60Cerebral edema (HP:0002181)2.52245166
61Irritability (HP:0000737)2.49283205
62Neonatal onset (HP:0003623)2.48948238
63Generalized aminoaciduria (HP:0002909)2.46684033
64Alkalosis (HP:0001948)2.44630497
65Malnutrition (HP:0004395)2.41804309
66Osteomalacia (HP:0002749)2.39580868
67Hypoglycemic seizures (HP:0002173)2.38081455
68Acanthocytosis (HP:0001927)2.34081851
69Abnormal gallbladder morphology (HP:0012437)2.33373839
70Proximal tubulopathy (HP:0000114)2.32521860
71Glomerulonephritis (HP:0000099)2.30739756
72Enlarged kidneys (HP:0000105)2.30700998
73Hyperuricemia (HP:0002149)2.29445035
74Increased purine levels (HP:0004368)2.29445035
75Vomiting (HP:0002013)2.28799023
76Cholelithiasis (HP:0001081)2.27945862
77Sensorimotor neuropathy (HP:0007141)2.24191387
78Abnormal gallbladder physiology (HP:0012438)2.22055684
79Cholecystitis (HP:0001082)2.22055684
80Recurrent gram-negative bacterial infections (HP:0005420)2.19616592
81Abnormal platelet function (HP:0011869)2.19477590
82Impaired platelet aggregation (HP:0003540)2.19477590
83Late onset (HP:0003584)2.19076671
84Pancreatitis (HP:0001733)2.18593649
85Rickets (HP:0002748)2.17658970
86Abnormality of proline metabolism (HP:0010907)2.15305717
87Hydroxyprolinuria (HP:0003080)2.15305717
88Esophageal varix (HP:0002040)2.13292852
89Amyloidosis (HP:0011034)2.12890725
90Pulmonary embolism (HP:0002204)2.12285984
91* Vascular calcification (HP:0004934)2.08866212
92Brushfield spots (HP:0001088)2.07284010
93Menorrhagia (HP:0000132)2.03577493
94Opisthotonus (HP:0002179)2.03417212
95Thrombophlebitis (HP:0004418)2.02045327
96Fair hair (HP:0002286)2.01644934
97Abnormality of urine glucose concentration (HP:0011016)2.01475761
98Glycosuria (HP:0003076)2.01475761
99Abnormal enzyme/coenzyme activity (HP:0012379)2.00281559
100Gingival bleeding (HP:0000225)1.99609158
101Hypophosphatemic rickets (HP:0004912)1.96257017
102Abnormal tarsal ossification (HP:0008369)1.95582179
103Increased serum ferritin (HP:0003281)1.94242160
104Abnormality of the gallbladder (HP:0005264)1.93439265
105Hyperinsulinemic hypoglycemia (HP:0000825)1.91967076
106Hemorrhage of the eye (HP:0011885)1.89503577
107* Joint swelling (HP:0001386)1.87000417
108Renal cortical cysts (HP:0000803)1.85783905
109Abnormality of transition element cation homeostasis (HP:0011030)1.84020118
110Abnormality of iron homeostasis (HP:0011031)1.82704298
111Poikilocytosis (HP:0004447)1.82648655
112Hyperphosphaturia (HP:0003109)1.81953236
113Elevated hepatic transaminases (HP:0002910)1.80629090
114Status epilepticus (HP:0002133)1.79950962
115Abnormality of vitamin metabolism (HP:0100508)1.79168281
116Elevated alkaline phosphatase (HP:0003155)1.76017165
117Bifid scrotum (HP:0000048)1.75776364
118* Cardiovascular calcification (HP:0011915)1.75166913
119Facial shape deformation (HP:0011334)1.69002731
120Potter facies (HP:0002009)1.69002731
121Abnormal delivery (HP:0001787)1.62603721
122Gangrene (HP:0100758)1.56488320
123Abnormality of carpal bone ossification (HP:0006257)1.53816507
124Abnormal urine phosphate concentration (HP:0012599)1.53006515
125Abnormality of alkaline phosphatase activity (HP:0004379)1.51869498
126Petechiae (HP:0000967)1.51762134
127Neonatal hypoglycemia (HP:0001998)1.50561969

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.36969917
2FGFR44.51914673
3SIK14.22351172
4ERN14.16205925
5INSRR2.84693968
6ERBB42.81058794
7TAOK32.76289992
8PIK3CA2.46684275
9MST42.21669438
10MAP2K42.19725379
11MST1R2.19551699
12LMTK22.13921945
13MYLK2.02891784
14PKN22.02186059
15EIF2AK12.00475159
16MAPK111.87755809
17ACVR1B1.79883963
18MAP3K21.79372698
19MAPKAPK31.72400017
20FLT31.71264225
21TRIB31.68535567
22PIK3CG1.65125047
23WNK31.62476380
24LATS11.59598362
25TYK21.56334758
26MAP3K121.55760596
27ABL21.51124818
28PTK61.44414098
29FER1.44173151
30WNK41.42295608
31DAPK21.41206930
32BMX1.40306384
33STK38L1.37058338
34NEK91.32561749
35FRK1.32005402
36PINK11.27237216
37MAP3K71.25792405
38AKT31.25020821
39FGFR21.24542200
40EPHA21.24457647
41NLK1.21605591
42JAK21.17671743
43KDR1.17489370
44GRK61.16755430
45NTRK31.16698524
46OXSR11.16479991
47BRSK21.15301028
48PRKAA21.13196408
49FGFR11.05694365
50MAP2K31.02355336
51MAP3K140.98342525
52TBK10.96834394
53ERBB20.95640731
54PRKCZ0.92954228
55EPHB10.92724114
56CDK120.91589425
57JAK10.90749559
58MAPK40.90548148
59MAP3K30.90350436
60MAPK150.88425771
61ZAP700.87645036
62MAP3K100.87196591
63MET0.84834471
64TIE10.83616626
65STK390.82406287
66SGK30.81929530
67GSK3A0.77867472
68MAPK120.76816479
69DYRK1B0.76446212
70PRKACG0.74801992
71TNK20.74583299
72MAP3K110.73214352
73PRKAA10.72342820
74FGR0.72009833
75SGK2230.71324557
76SGK4940.71324557
77CDK60.70773638
78PRKG10.67570040
79SGK20.66973133
80PDGFRA0.66809931
81CAMK2G0.66099383
82CSK0.64204118
83PDK30.63778499
84PDK40.63778499
85MAP2K60.63507494
86PTK20.63102595
87EPHA30.63042911
88IRAK30.62604250
89TGFBR20.62377859
90BMPR20.61017178
91MAP3K10.59131848
92RIPK10.59002279
93CAMKK20.57646917
94PDPK10.57618347
95PRKG20.57519626
96CAMK1D0.55831216
97CAMK1G0.55113890
98CSNK1E0.52693982
99MUSK0.50703559
100MAPK70.50277206
101FGFR30.49627173
102PRKCQ0.48330297
103SRC0.48032235
104PRKACA0.47610894
105IKBKE0.47292764
106CSNK1G10.46883241
107CSNK1D0.46602018
108CSF1R0.46404636
109SGK10.45033384
110STK30.44880288
111ILK0.44374579
112EPHA40.44031990
113PRKCB0.43958495
114IGF1R0.41534410
115GRK10.38739187
116MAP3K50.38592068
117MAP3K130.38312325
118PRKCG0.37956440
119TAOK20.37553671
120NEK10.37519955
121MAP2K10.37350963
122MATK0.36831167
123STK240.36503806
124TEC0.35619038
125PDK10.35503825
126WNK10.35476048
127PRKCE0.34923166
128PKN10.33985613
129RET0.33215649
130MTOR0.32911660
131CDK40.32375980
132MAP3K60.32238517
133ICK0.31789826
134IRAK20.30804030
135EGFR0.30412155
136CAMK40.30116855
137PBK0.28264679
138IRAK10.27880454
139PDK20.26805320
140STK380.26532616
141PRKCA0.26338403
142CSNK1G20.25986073
143PAK30.25745315

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.37962717
2Nitrogen metabolism_Homo sapiens_hsa009103.49886542
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.42279754
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.39837321
5Arginine biosynthesis_Homo sapiens_hsa002203.04226092
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.73018579
7Tryptophan metabolism_Homo sapiens_hsa003802.72183132
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.62675591
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58030525
10Complement and coagulation cascades_Homo sapiens_hsa046102.57621942
11Fatty acid degradation_Homo sapiens_hsa000712.50904006
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.49660086
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.33022620
14Butanoate metabolism_Homo sapiens_hsa006502.29959337
15Peroxisome_Homo sapiens_hsa041462.16119716
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.07991177
17Propanoate metabolism_Homo sapiens_hsa006402.06164010
18Chemical carcinogenesis_Homo sapiens_hsa052041.87752827
19Histidine metabolism_Homo sapiens_hsa003401.87181325
20Steroid hormone biosynthesis_Homo sapiens_hsa001401.85529064
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.84996818
22PPAR signaling pathway_Homo sapiens_hsa033201.84336542
23Fatty acid metabolism_Homo sapiens_hsa012121.81576746
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77374248
25beta-Alanine metabolism_Homo sapiens_hsa004101.75998056
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74729520
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.70208912
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.68440644
29Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65366851
30Retinol metabolism_Homo sapiens_hsa008301.62544743
31Caffeine metabolism_Homo sapiens_hsa002321.61883033
32Staphylococcus aureus infection_Homo sapiens_hsa051501.60439709
33Selenocompound metabolism_Homo sapiens_hsa004501.58808760
34Phenylalanine metabolism_Homo sapiens_hsa003601.57228253
35Bile secretion_Homo sapiens_hsa049761.52587894
36Pyruvate metabolism_Homo sapiens_hsa006201.46530393
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.41819803
38Sulfur metabolism_Homo sapiens_hsa009201.40612902
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.34759786
40Fatty acid elongation_Homo sapiens_hsa000621.29655291
41Starch and sucrose metabolism_Homo sapiens_hsa005001.27914158
42Biosynthesis of amino acids_Homo sapiens_hsa012301.24226309
43Cyanoamino acid metabolism_Homo sapiens_hsa004601.22096334
44Folate biosynthesis_Homo sapiens_hsa007901.21790800
45* Tyrosine metabolism_Homo sapiens_hsa003501.20387596
46Carbon metabolism_Homo sapiens_hsa012001.19684228
47Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.15626101
48Steroid biosynthesis_Homo sapiens_hsa001001.14434946
49ABC transporters_Homo sapiens_hsa020101.12686864
50Fat digestion and absorption_Homo sapiens_hsa049751.05606244
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05512224
52Arginine and proline metabolism_Homo sapiens_hsa003301.02416859
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.97238291
54Vitamin digestion and absorption_Homo sapiens_hsa049770.96370666
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92201819
56Sulfur relay system_Homo sapiens_hsa041220.91773350
57Lysine degradation_Homo sapiens_hsa003100.86967136
58Vitamin B6 metabolism_Homo sapiens_hsa007500.86370819
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.84885536
60Glutathione metabolism_Homo sapiens_hsa004800.75000619
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.74652392
62One carbon pool by folate_Homo sapiens_hsa006700.71332648
63Glycerolipid metabolism_Homo sapiens_hsa005610.69202502
64Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.64867321
65Pentose phosphate pathway_Homo sapiens_hsa000300.58325200
66* Metabolic pathways_Homo sapiens_hsa011000.47259966
67Other glycan degradation_Homo sapiens_hsa005110.45581142
68Fatty acid biosynthesis_Homo sapiens_hsa000610.44725685
69Pertussis_Homo sapiens_hsa051330.31760403
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.31146854
71Prion diseases_Homo sapiens_hsa050200.30428489
72Fructose and mannose metabolism_Homo sapiens_hsa000510.29264692
73Galactose metabolism_Homo sapiens_hsa000520.24108418
74alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.22527979
75Insulin resistance_Homo sapiens_hsa049310.21419122
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20543176
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.20334659
78Linoleic acid metabolism_Homo sapiens_hsa005910.16112427
79Sphingolipid metabolism_Homo sapiens_hsa006000.16012163
80Glycerophospholipid metabolism_Homo sapiens_hsa005640.12463713
81Glucagon signaling pathway_Homo sapiens_hsa049220.08120183
82Platelet activation_Homo sapiens_hsa046110.06402238
83N-Glycan biosynthesis_Homo sapiens_hsa005100.02486562
84AMPK signaling pathway_Homo sapiens_hsa041520.01486548
85Serotonergic synapse_Homo sapiens_hsa047260.00562066
86Bladder cancer_Homo sapiens_hsa05219-0.2406834
87Lysosome_Homo sapiens_hsa04142-0.2317695
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2178893
89Mineral absorption_Homo sapiens_hsa04978-0.2081821
90Protein digestion and absorption_Homo sapiens_hsa04974-0.2013742
91African trypanosomiasis_Homo sapiens_hsa05143-0.1907248
92Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1889252
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1815651
94Hepatitis C_Homo sapiens_hsa05160-0.1749003
95Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1747691
96Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1654205
97Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1460728
98Regulation of autophagy_Homo sapiens_hsa04140-0.1279738
99Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1277244
100Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1272159
101Insulin signaling pathway_Homo sapiens_hsa04910-0.1222927
102Renin-angiotensin system_Homo sapiens_hsa04614-0.1202596
103Ether lipid metabolism_Homo sapiens_hsa00565-0.1146469
104Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1084102
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0966600
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0945952
107Circadian rhythm_Homo sapiens_hsa04710-0.0867459
108ECM-receptor interaction_Homo sapiens_hsa04512-0.0553048
109Amoebiasis_Homo sapiens_hsa05146-0.0410693
110Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0278067

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