ITIH1

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 a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exogenous drug catabolic process (GO:0042738)9.30289466
2omega-hydroxylase P450 pathway (GO:0097267)8.35654984
3epoxygenase P450 pathway (GO:0019373)8.29602786
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.59709011
5L-phenylalanine catabolic process (GO:0006559)7.59709011
6L-phenylalanine metabolic process (GO:0006558)7.25657236
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.25657236
8aromatic amino acid family catabolic process (GO:0009074)6.82730050
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.34234256
10tryptophan catabolic process (GO:0006569)6.17481217
11indole-containing compound catabolic process (GO:0042436)6.17481217
12indolalkylamine catabolic process (GO:0046218)6.17481217
13kynurenine metabolic process (GO:0070189)6.05147964
14drug metabolic process (GO:0017144)5.99425090
15bile acid biosynthetic process (GO:0006699)5.98750641
16oxidative demethylation (GO:0070989)5.81612487
17tryptophan metabolic process (GO:0006568)5.81004000
18glyoxylate metabolic process (GO:0046487)5.80613021
19negative regulation of fibrinolysis (GO:0051918)5.73870277
20urea metabolic process (GO:0019627)5.70718428
21urea cycle (GO:0000050)5.70718428
22high-density lipoprotein particle remodeling (GO:0034375)5.60030388
23regulation of plasminogen activation (GO:0010755)5.59802579
24alpha-linolenic acid metabolic process (GO:0036109)5.58113721
25regulation of fibrinolysis (GO:0051917)5.55029663
26complement activation, alternative pathway (GO:0006957)5.51493149
27regulation of protein activation cascade (GO:2000257)5.50747447
28peptidyl-glutamic acid carboxylation (GO:0017187)5.47327639
29protein carboxylation (GO:0018214)5.47327639
30cysteine metabolic process (GO:0006534)5.37361371
31sulfur amino acid catabolic process (GO:0000098)5.35277904
32nitrogen cycle metabolic process (GO:0071941)5.24426187
33ethanol metabolic process (GO:0006067)5.17958574
34serine family amino acid catabolic process (GO:0009071)5.13615177
35regulation of complement activation (GO:0030449)5.13366461
36bile acid metabolic process (GO:0008206)5.12007129
37phenylpropanoid metabolic process (GO:0009698)4.98614635
38aromatic amino acid family metabolic process (GO:0009072)4.95755024
39reverse cholesterol transport (GO:0043691)4.90878673
40negative regulation of hemostasis (GO:1900047)4.88936650
41negative regulation of blood coagulation (GO:0030195)4.88936650
42regulation of cholesterol esterification (GO:0010872)4.86743437
43fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.86163027
44regulation of triglyceride catabolic process (GO:0010896)4.82218651
45plasma lipoprotein particle remodeling (GO:0034369)4.81189474
46protein-lipid complex remodeling (GO:0034368)4.81189474
47macromolecular complex remodeling (GO:0034367)4.81189474
48tyrosine metabolic process (GO:0006570)4.81105101
49homocysteine metabolic process (GO:0050667)4.79070235
50regulation of humoral immune response (GO:0002920)4.77319256
51S-adenosylmethionine metabolic process (GO:0046500)4.67891678
52triglyceride homeostasis (GO:0070328)4.64907997
53acylglycerol homeostasis (GO:0055090)4.64907997
54alpha-amino acid catabolic process (GO:1901606)4.64247107
55amino-acid betaine metabolic process (GO:0006577)4.57512395
56phospholipid efflux (GO:0033700)4.56823246
57lysine catabolic process (GO:0006554)4.55646076
58lysine metabolic process (GO:0006553)4.55646076
59negative regulation of sterol transport (GO:0032372)4.54027317
60negative regulation of cholesterol transport (GO:0032375)4.54027317
61negative regulation of protein activation cascade (GO:2000258)4.50425752
62cellular ketone body metabolic process (GO:0046950)4.45620036
63negative regulation of coagulation (GO:0050819)4.44106831
64glycine metabolic process (GO:0006544)4.44071497
65bile acid and bile salt transport (GO:0015721)4.43820853
66plasma lipoprotein particle clearance (GO:0034381)4.42025269
67imidazole-containing compound metabolic process (GO:0052803)4.40382377
68coenzyme catabolic process (GO:0009109)4.39643507
69negative regulation of wound healing (GO:0061045)4.39523849
70positive regulation of hemostasis (GO:1900048)4.38700509
71positive regulation of blood coagulation (GO:0030194)4.38700509
72indolalkylamine metabolic process (GO:0006586)4.37506057
73alkaloid metabolic process (GO:0009820)4.28144002
74cellular biogenic amine catabolic process (GO:0042402)4.27979224
75amine catabolic process (GO:0009310)4.27979224
76cellular amino acid catabolic process (GO:0009063)4.26476058
77glutamate metabolic process (GO:0006536)4.26454987
78cholesterol efflux (GO:0033344)4.26078354
79cellular glucuronidation (GO:0052695)4.24454238
80positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.20352473
81serine family amino acid metabolic process (GO:0009069)4.18164382
82killing of cells in other organism involved in symbiotic interaction (GO:0051883)4.15713114
83disruption of cells of other organism involved in symbiotic interaction (GO:0051818)4.15713114
84benzene-containing compound metabolic process (GO:0042537)4.10472070
85fibrinolysis (GO:0042730)4.09354735
86ethanol oxidation (GO:0006069)4.07628201
87low-density lipoprotein particle remodeling (GO:0034374)4.06839468
88cellular modified amino acid catabolic process (GO:0042219)4.06443057
89dicarboxylic acid biosynthetic process (GO:0043650)4.03886958
90plasma lipoprotein particle assembly (GO:0034377)4.03171674
91positive regulation of coagulation (GO:0050820)4.02915088
92arginine metabolic process (GO:0006525)4.02507263
93serine family amino acid biosynthetic process (GO:0009070)4.02366607
94aldehyde catabolic process (GO:0046185)3.99974171
95blood coagulation, intrinsic pathway (GO:0007597)3.94882041
96complement activation, classical pathway (GO:0006958)3.86213910
97ketone body metabolic process (GO:1902224)3.85746134
98drug catabolic process (GO:0042737)3.84310687
99complement activation (GO:0006956)3.82371273
100protein activation cascade (GO:0072376)3.81783479
101cofactor catabolic process (GO:0051187)3.81136371
102intestinal cholesterol absorption (GO:0030299)3.80477987
103positive regulation of lipoprotein lipase activity (GO:0051006)3.79682810
104positive regulation of triglyceride lipase activity (GO:0061365)3.79682810
105phospholipid homeostasis (GO:0055091)3.77691441
106glucuronate metabolic process (GO:0019585)3.76373346
107uronic acid metabolic process (GO:0006063)3.76373346
108very-low-density lipoprotein particle assembly (GO:0034379)3.75972293
109cholesterol homeostasis (GO:0042632)3.75898360
110regulation of bile acid biosynthetic process (GO:0070857)3.75073888
111cytolysis (GO:0019835)3.73351503
112positive regulation of lipid catabolic process (GO:0050996)3.72690755
113negative regulation of lipase activity (GO:0060192)3.72177189
114organic acid catabolic process (GO:0016054)3.72089292
115carboxylic acid catabolic process (GO:0046395)3.72089292
116flavonoid metabolic process (GO:0009812)3.70082818
117sterol homeostasis (GO:0055092)3.69601707
118regulation of cholesterol homeostasis (GO:2000188)3.67068138
119regulation of apoptotic cell clearance (GO:2000425)3.66449600
120plasma lipoprotein particle organization (GO:0071827)3.65769662
121hormone catabolic process (GO:0042447)3.64845161
122acetyl-CoA metabolic process (GO:0006084)3.64577944
123positive regulation of fatty acid biosynthetic process (GO:0045723)3.64110907
124negative regulation of complement activation (GO:0045916)3.61905707
125protein-lipid complex assembly (GO:0065005)3.61232507
126short-chain fatty acid metabolic process (GO:0046459)3.60533565
127acute inflammatory response (GO:0002526)3.60200250
128opsonization (GO:0008228)3.58844421
129acute-phase response (GO:0006953)3.56958132
130heme transport (GO:0015886)3.56864170
131response to mercury ion (GO:0046689)3.55933502
132regulation of lipoprotein particle clearance (GO:0010984)3.52095706

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.39908072
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.19644563
3* EGR1_23403033_ChIP-Seq_LIVER_Mouse7.01726680
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.53166557
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.32612549
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.16086194
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.79234641
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.07934481
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.05654652
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.07094462
11* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9682742
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.97479219
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92723899
14FOXA2_19822575_ChIP-Seq_HepG2_Human1.62462952
15HTT_18923047_ChIP-ChIP_STHdh_Human1.57733686
16CLOCK_20551151_ChIP-Seq_293T_Human1.53763230
17GATA1_22025678_ChIP-Seq_K562_Human1.44988766
18HNF4A_19822575_ChIP-Seq_HepG2_Human1.40978089
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31204518
20STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.23647664
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.20657085
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17822766
23ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12037287
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.10045062
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.02618735
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00751949
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93780070
28SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91551671
29IRF8_22096565_ChIP-ChIP_GC-B_Human0.86232247
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.86169638
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84516016
32ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.83842633
33AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83247746
34RARG_19884340_ChIP-ChIP_MEFs_Mouse0.81648323
35GATA4_25053715_ChIP-Seq_YYC3_Human0.79540709
36CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.77394398
37BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.77192578
38ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.76817473
39SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.76667760
40KAP1_22055183_ChIP-Seq_ESCs_Mouse0.76037048
41SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75111524
42HNFA_21074721_ChIP-Seq_CACO-2_Human0.74765036
43IRF1_19129219_ChIP-ChIP_H3396_Human0.74112675
44ZNF263_19887448_ChIP-Seq_K562_Human0.74039582
45RARA_24833708_ChIP-Seq_LIVER_Mouse0.74025160
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.72596839
47NFE2_27457419_Chip-Seq_LIVER_Mouse0.69778028
48PHF8_20622853_ChIP-Seq_HELA_Human0.68907470
49* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.68557209
50AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.67683412
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.67403551
52ESR2_21235772_ChIP-Seq_MCF-7_Human0.66291924
53* SOX2_21211035_ChIP-Seq_LN229_Human0.65551528
54RAC3_21632823_ChIP-Seq_H3396_Human0.65262587
55NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.65086600
56NRF2_20460467_ChIP-Seq_MEFs_Mouse0.65086600
57GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.64974657
58RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.64405409
59RARB_24833708_ChIP-Seq_LIVER_Mouse0.63903962
60TP53_18474530_ChIP-ChIP_U2OS_Human0.62678256
61FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.62323910
62RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60916050
63ETV2_25802403_ChIP-Seq_MESCs_Mouse0.60666700
64GATA6_21074721_ChIP-Seq_CACO-2_Human0.60618333
65NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.60387906
66NFYA_21822215_ChIP-Seq_K562_Human0.60179024
67NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.59800988
68BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.59127730
69NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.57862420
70SPI1_20517297_ChIP-Seq_HL60_Human0.57112717
71CEBPB_22108803_ChIP-Seq_LS180_Human0.56887779
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.56440008
73PIAS1_25552417_ChIP-Seq_VCAP_Human0.55733853
74CBX2_22325352_ChIP-Seq_293T-Rex_Human0.54843592
75EGR1_19032775_ChIP-ChIP_M12_Human0.54003488
76EZH2_27294783_Chip-Seq_NPCs_Mouse0.53625478
77ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53547561
78SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.53534727
79GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.53501953
80FOXA1_25552417_ChIP-Seq_VCAP_Human0.53500154
81POU5F1_16518401_ChIP-PET_MESCs_Mouse0.53495219
82EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.53348814
83LXR_22292898_ChIP-Seq_THP-1_Human0.53212583
84* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.52755260
85DNAJC2_21179169_ChIP-ChIP_NT2_Human0.52209293
86FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.52091477
87MYC_19829295_ChIP-Seq_ESCs_Human0.51651985
88AR_20517297_ChIP-Seq_VCAP_Human0.51615767
89PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.51583964
90SRY_22984422_ChIP-ChIP_TESTIS_Rat0.51484730
91MYC_19915707_ChIP-ChIP_AK7_Human0.51399810
92STAT3_1855785_ChIP-Seq_MESCs_Mouse0.51086213
93ELF1_20517297_ChIP-Seq_JURKAT_Human0.50806797
94FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.50777105
95E2F1_20622854_ChIP-Seq_HELA_Human0.49834644
96CTCF_27219007_Chip-Seq_Bcells_Human0.49821098
97GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.49386575
98FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.48589283
99ESET_19884257_ChIP-Seq_ESCs_Mouse0.48565112
100ETV1_20927104_ChIP-Seq_GIST48_Human0.48418228
101CBP_21632823_ChIP-Seq_H3396_Human0.47814440
102* SMC4_20622854_ChIP-Seq_HELA_Human0.47661504
103STAT1_17558387_ChIP-Seq_HELA_Human0.47093761
104SOX2_20726797_ChIP-Seq_SW620_Human0.46614855
105TCF4_18268006_ChIP-ChIP_LS174T_Human0.46419972
106P53_21459846_ChIP-Seq_SAOS-2_Human0.46369075
107TAF15_26573619_Chip-Seq_HEK293_Human0.46350717
108CTCF_20526341_ChIP-Seq_ESCs_Human0.46328402
109E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.45967743
110PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.45102680
111ESR1_21235772_ChIP-Seq_MCF-7_Human0.44832295
112GATA1_19941826_ChIP-Seq_K562_Human0.44029405
113PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.43882519
114CDX2_20551321_ChIP-Seq_CACO-2_Human0.43868231
115FOXO3_23340844_ChIP-Seq_DLD1_Human0.42512603
116GATA1_19941827_ChIP-Seq_MEL_Mouse0.42361853
117PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.42143160
118TAF2_19829295_ChIP-Seq_ESCs_Human0.42054041
119FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.41048902
120ESR1_20079471_ChIP-ChIP_T-47D_Human0.40929768
121CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.40215542
122GATA2_19941826_ChIP-Seq_K562_Human0.40129393
123ERG_21242973_ChIP-ChIP_JURKAT_Human0.40095822
124BCAT_22108803_ChIP-Seq_LS180_Human0.39726001
125* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.39533060
126PPAR_26484153_Chip-Seq_NCI-H1993_Human0.38931979
127GATA6_25053715_ChIP-Seq_YYC3_Human0.38513337
128STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.38213473
129MYC_27129775_Chip-Seq_CORNEA_Mouse0.38031101
130LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35704564
131SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.35307433
132SPI1_26923725_Chip-Seq_HPCs_Mouse0.35083774
133GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.34180397
134NCOR_22424771_ChIP-Seq_293T_Human0.33537089
135CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.33434506
136FOXH1_21741376_ChIP-Seq_EPCs_Human0.33411491
137ERG_20517297_ChIP-Seq_VCAP_Human0.33363243

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.29573663
2MP0005360_urolithiasis7.55690011
3MP0005085_abnormal_gallbladder_physiolo6.46732829
4MP0005365_abnormal_bile_salt6.15697657
5MP0008875_abnormal_xenobiotic_pharmacok5.08782475
6MP0003806_abnormal_nucleotide_metabolis4.27929146
7MP0003252_abnormal_bile_duct3.91368093
8MP0010329_abnormal_lipoprotein_level3.61166476
9MP0009840_abnormal_foam_cell3.29607915
10MP0005083_abnormal_biliary_tract3.13889406
11MP0003195_calcinosis2.86817000
12MP0005332_abnormal_amino_acid2.73771860
13MP0001666_abnormal_nutrient_absorption2.59650187
14MP0003191_abnormal_cellular_cholesterol2.39072709
15MP0000609_abnormal_liver_physiology2.17412648
16MP0004019_abnormal_vitamin_homeostasis2.11906278
17MP0002118_abnormal_lipid_homeostasis2.10206853
18MP0002138_abnormal_hepatobiliary_system1.96238224
19MP0003868_abnormal_feces_composition1.92897657
20MP0005319_abnormal_enzyme/_coenzyme1.82502707
21MP0001764_abnormal_homeostasis1.65593160
22MP0009697_abnormal_copulation1.60605223
23MP0005584_abnormal_enzyme/coenzyme_acti1.56560043
24MP0003011_delayed_dark_adaptation1.41216080
25MP0005451_abnormal_body_composition1.40011598
26MP0003656_abnormal_erythrocyte_physiolo1.27607192
27MP0003186_abnormal_redox_activity1.24525036
28MP0009643_abnormal_urine_homeostasis1.21170640
29MP0000598_abnormal_liver_morphology1.18526417
30MP0003705_abnormal_hypodermis_morpholog1.17620034
31MP0005647_abnormal_sex_gland1.15113751
32MP0000604_amyloidosis1.10875057
33MP0009764_decreased_sensitivity_to1.06057578
34MP0002254_reproductive_system_inflammat1.05882252
35MP0009763_increased_sensitivity_to1.03394081
36MP0010368_abnormal_lymphatic_system1.01463316
37MP0005636_abnormal_mineral_homeostasis0.91851031
38MP0008469_abnormal_protein_level0.89706069
39MP0009642_abnormal_blood_homeostasis0.87244910
40MP0001915_intracranial_hemorrhage0.84635541
41MP0005408_hypopigmentation0.84506116
42MP0002282_abnormal_trachea_morphology0.82295621
43MP0006036_abnormal_mitochondrial_physio0.79938242
44MP0005376_homeostasis/metabolism_phenot0.79418652
45MP0009765_abnormal_xenobiotic_induced0.78473285
46MP0002078_abnormal_glucose_homeostasis0.77870426
47MP0005670_abnormal_white_adipose0.76468655
48MP0005084_abnormal_gallbladder_morpholo0.76168629
49MP0002876_abnormal_thyroid_physiology0.75836327
50MP0005220_abnormal_exocrine_pancreas0.74887369
51MP0002971_abnormal_brown_adipose0.72202084
52MP0003879_abnormal_hair_cell0.71501273
53MP0005187_abnormal_penis_morphology0.70716304
54MP0001661_extended_life_span0.69772199
55MP0005334_abnormal_fat_pad0.68562340
56MP0002249_abnormal_larynx_morphology0.68375482
57MP0003690_abnormal_glial_cell0.68269566
58MP0004130_abnormal_muscle_cell0.68213734
59MP0005535_abnormal_body_temperature0.66897997
60MP0009053_abnormal_anal_canal0.66283951
61MP0005266_abnormal_metabolism0.63738134
62MP0003329_amyloid_beta_deposits0.63214846
63MP0000639_abnormal_adrenal_gland0.61946966
64MP0001756_abnormal_urination0.56579451
65MP0006035_abnormal_mitochondrial_morpho0.56123078
66MP0005464_abnormal_platelet_physiology0.55776926
67MP0005448_abnormal_energy_balance0.55681545
68MP0009785_altered_susceptibility_to0.53062976
69MP0005023_abnormal_wound_healing0.52164593
70MP0005395_other_phenotype0.49162838
71MP0002822_catalepsy0.48920651
72MP0002928_abnormal_bile_duct0.46175885
73MP0003638_abnormal_response/metabolism_0.45915934
74MP0003718_maternal_effect0.45552874
75MP0003436_decreased_susceptibility_to0.45472736
76MP0003724_increased_susceptibility_to0.45045744
77MP0008874_decreased_physiological_sensi0.44811780
78MP0008873_increased_physiological_sensi0.44153798
79MP0002136_abnormal_kidney_physiology0.43662832
80MP0004782_abnormal_surfactant_physiolog0.43008424
81MP0003075_altered_response_to0.41904715
82MP0000566_synostosis0.41779658
83MP0002837_dystrophic_cardiac_calcinosis0.40994774
84MP0005058_abnormal_lysosome_morphology0.40767063
85MP0003953_abnormal_hormone_level0.40439743
86MP0005248_abnormal_Harderian_gland0.40175193
87MP0005166_decreased_susceptibility_to0.39517591
88MP0004381_abnormal_hair_follicle0.39375208
89MP0009672_abnormal_birth_weight0.36849260
90MP0000579_abnormal_nail_morphology0.36773590
91MP0005666_abnormal_adipose_tissue0.35489989
92MP0008872_abnormal_physiological_respon0.35435494
93MP0000467_abnormal_esophagus_morphology0.34906578
94MP0009384_cardiac_valve_regurgitation0.34399821
95MP0000249_abnormal_blood_vessel0.32989686
96MP0006082_CNS_inflammation0.32665934
97MP0004883_abnormal_blood_vessel0.32438486
98MP0002796_impaired_skin_barrier0.32211898
99MP0009115_abnormal_fat_cell0.31918241
100MP0001243_abnormal_dermal_layer0.31810567
101MP0002168_other_aberrant_phenotype0.30828453
102MP0000230_abnormal_systemic_arterial0.30498436
103MP0002970_abnormal_white_adipose0.30211662
104MP0001851_eye_inflammation0.29297472
105MP0001853_heart_inflammation0.29159335
106MP0001845_abnormal_inflammatory_respons0.28217496
107MP0001881_abnormal_mammary_gland0.28163489
108MP0005164_abnormal_response_to0.25959243
109MP0002132_abnormal_respiratory_system0.25611559
110MP0005397_hematopoietic_system_phenotyp0.23948561
111MP0001545_abnormal_hematopoietic_system0.23948561
112MP0002060_abnormal_skin_morphology0.23491015
113MP0000427_abnormal_hair_cycle0.23241804
114MP0003632_abnormal_nervous_system0.19058416
115MP0002128_abnormal_blood_circulation0.18905933
116MP0005197_abnormal_uvea_morphology0.18801898
117MP0002332_abnormal_exercise_endurance0.17911025
118MP0001986_abnormal_taste_sensitivity0.17656771

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.53788548
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.38468317
3Intrahepatic cholestasis (HP:0001406)7.37138022
4Prolonged partial thromboplastin time (HP:0003645)6.72316369
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.66139777
6Hypobetalipoproteinemia (HP:0003563)6.45260767
7Xanthomatosis (HP:0000991)6.30073326
8Hyperlipoproteinemia (HP:0010980)5.59579113
9Complement deficiency (HP:0004431)5.55877065
10Joint hemorrhage (HP:0005261)4.91157363
11Hypolipoproteinemia (HP:0010981)4.84023811
12Abnormality of the common coagulation pathway (HP:0010990)4.61879769
13Hyperammonemia (HP:0001987)4.57381305
14Epidermoid cyst (HP:0200040)4.54168272
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.42644864
16Hyperglycinemia (HP:0002154)4.40770739
17Abnormality of methionine metabolism (HP:0010901)4.25655426
18Hypoalphalipoproteinemia (HP:0003233)4.23486433
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.22875667
20Ketosis (HP:0001946)4.20942427
21Fat malabsorption (HP:0002630)4.15574557
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.10307667
23Abnormality of aspartate family amino acid metabolism (HP:0010899)4.08930400
24Abnormality of complement system (HP:0005339)4.05973345
25Abnormality of glycine metabolism (HP:0010895)3.86687073
26Abnormality of serine family amino acid metabolism (HP:0010894)3.86687073
27Abnormality of the intrinsic pathway (HP:0010989)3.85940855
28Hyperglycinuria (HP:0003108)3.85321317
29Hypoglycemic coma (HP:0001325)3.83051311
30Abnormality of pyrimidine metabolism (HP:0004353)3.80955747
31Conjugated hyperbilirubinemia (HP:0002908)3.75869764
32Hypercholesterolemia (HP:0003124)3.64268811
33Hyperbilirubinemia (HP:0002904)3.34018593
34Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.31309063
35Abnormality of fatty-acid metabolism (HP:0004359)3.26955234
36Spontaneous abortion (HP:0005268)3.21594160
37Steatorrhea (HP:0002570)3.11435919
38Delayed CNS myelination (HP:0002188)3.07317166
39Abnormality of serum amino acid levels (HP:0003112)3.04096229
40Hypochromic microcytic anemia (HP:0004840)3.02986081
41Abnormality of nucleobase metabolism (HP:0010932)3.02546484
42Hepatocellular carcinoma (HP:0001402)3.00124796
43Myocardial infarction (HP:0001658)3.00122700
44Ketoacidosis (HP:0001993)2.96941494
45Skin nodule (HP:0200036)2.81689650
46Systemic lupus erythematosus (HP:0002725)2.80600530
47Metabolic acidosis (HP:0001942)2.72063845
48Purpura (HP:0000979)2.67317750
49Acanthocytosis (HP:0001927)2.63463226
50Abnormality of purine metabolism (HP:0004352)2.63341853
51Vascular calcification (HP:0004934)2.57547855
52Lethargy (HP:0001254)2.56258710
53Glomerulonephritis (HP:0000099)2.55721715
54Osteomalacia (HP:0002749)2.52039810
55Dicarboxylic aciduria (HP:0003215)2.51944714
56Abnormality of dicarboxylic acid metabolism (HP:0010995)2.51944714
57Abnormal gallbladder morphology (HP:0012437)2.48789864
58Hypoglycemic seizures (HP:0002173)2.48363926
59Spastic diplegia (HP:0001264)2.44539424
60Mitral stenosis (HP:0001718)2.43798769
61Recurrent gram-negative bacterial infections (HP:0005420)2.43644932
62Cholelithiasis (HP:0001081)2.42286484
63Gout (HP:0001997)2.41765377
64Pulmonary embolism (HP:0002204)2.41426382
65Cerebral edema (HP:0002181)2.38130511
66Amyloidosis (HP:0011034)2.37938995
67Cholecystitis (HP:0001082)2.36086442
68Abnormal gallbladder physiology (HP:0012438)2.36086442
69Fair hair (HP:0002286)2.36057185
70Neonatal hypoglycemia (HP:0001998)2.34841258
71Neonatal onset (HP:0003623)2.34076294
72Irritability (HP:0000737)2.33188812
73Gingival bleeding (HP:0000225)2.32039356
74Cardiovascular calcification (HP:0011915)2.28301716
75Malnutrition (HP:0004395)2.24598537
76Esophageal varix (HP:0002040)2.23164642
77Menorrhagia (HP:0000132)2.19995515
78Thrombophlebitis (HP:0004418)2.16084285
79Sensorimotor neuropathy (HP:0007141)2.12999246
80Pancreatitis (HP:0001733)2.12602162
81Late onset (HP:0003584)2.10067792
82Enlarged kidneys (HP:0000105)2.09937705
83Brushfield spots (HP:0001088)2.09366921
84Poikilocytosis (HP:0004447)2.05985066
85Reduced antithrombin III activity (HP:0001976)2.05816297
86Vomiting (HP:0002013)2.03515154
87Hemorrhage of the eye (HP:0011885)2.03379849
88Abnormality of the Achilles tendon (HP:0005109)2.01779441
89Hyperinsulinemic hypoglycemia (HP:0000825)2.01734839
90Arthropathy (HP:0003040)2.01719810
91Abnormality of the gallbladder (HP:0005264)2.01687353
92Opisthotonus (HP:0002179)2.00596865
93Generalized aminoaciduria (HP:0002909)1.97742910
94Joint swelling (HP:0001386)1.95800729
95Rickets (HP:0002748)1.92037853
96Abnormality of iron homeostasis (HP:0011031)1.90607104
97Elevated alkaline phosphatase (HP:0003155)1.89962612
98Abnormality of transition element cation homeostasis (HP:0011030)1.87725022
99Hyperphosphaturia (HP:0003109)1.87241970
100Gangrene (HP:0100758)1.87167620
101Hypophosphatemic rickets (HP:0004912)1.85856957
102Abnormal cartilage morphology (HP:0002763)1.84804036
103Increased serum ferritin (HP:0003281)1.84076346
104Epistaxis (HP:0000421)1.83625313
105Bifid scrotum (HP:0000048)1.81593711
106Renal cortical cysts (HP:0000803)1.81123733
107Abnormal enzyme/coenzyme activity (HP:0012379)1.80956116
108Hydroxyprolinuria (HP:0003080)1.80693833
109Abnormality of proline metabolism (HP:0010907)1.80693833
110Elevated hepatic transaminases (HP:0002910)1.80573738
111Nephritis (HP:0000123)1.79932763
112Alkalosis (HP:0001948)1.78099967
113Status epilepticus (HP:0002133)1.78077317
114Abnormality of alkaline phosphatase activity (HP:0004379)1.72858192
115Hyperglycemia (HP:0003074)1.72213057
116Abnormality of vitamin metabolism (HP:0100508)1.71445725
117Increased mean platelet volume (HP:0011877)1.71273448
118Abnormality of urine glucose concentration (HP:0011016)1.70857711
119Glycosuria (HP:0003076)1.70857711
120Cerebral palsy (HP:0100021)1.62920412
121Atrioventricular block (HP:0001678)1.61814035
122Generalized hypopigmentation of hair (HP:0011358)1.61406891
123Abnormal platelet volume (HP:0011876)1.54636304
124Abnormal delivery (HP:0001787)1.53073908
125Abnormal biliary tract physiology (HP:0012439)1.51565926
126Bile duct proliferation (HP:0001408)1.51565926
127Abnormal platelet function (HP:0011869)1.50609735
128Impaired platelet aggregation (HP:0003540)1.50609735

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.06996157
2FGFR44.71459140
3SIK14.58421449
4ERN14.45518126
5TAOK33.16398516
6INSRR3.02968842
7ERBB43.02824631
8MAP2K42.34166747
9PKN22.18124317
10MST1R2.11988547
11MAPK111.93094678
12FLT31.88547881
13NTRK31.83378244
14PRPF4B1.82356173
15PIK3CG1.82155945
16TRIB31.79039782
17TYK21.75752469
18LATS11.65165321
19DAPK21.56835865
20PTK61.50971439
21ABL21.46015713
22FGFR21.40265605
23NEK91.39965056
24FRK1.36299671
25KDR1.33591218
26PDK21.30843144
27JAK21.26228067
28NLK1.24984976
29MAP3K71.20176338
30TNK21.12777466
31PRKAA21.10732028
32PINK11.09459428
33ERBB21.07464124
34JAK11.06000968
35TBK11.05466301
36GRK61.05339658
37MAP2K31.03617266
38MAP3K101.00781961
39FER1.00378891
40MAPK40.98572845
41MAP3K140.96870830
42PRKG10.92665668
43PRKCZ0.91448016
44EPHB10.90248583
45MAPK150.87638834
46MET0.86770765
47EPHA30.85414789
48MAP3K20.83668015
49PRKACA0.82672986
50CAMKK20.82567023
51MAP3K30.81912331
52STK38L0.81184459
53CDK60.80184257
54MAPK120.79378201
55TIE10.77444324
56PRKACG0.76054845
57MAP3K110.75343954
58CAMK2G0.71842330
59DYRK1B0.70946137
60CAMK1D0.69409066
61CSK0.68917671
62GSK3A0.67083443
63PRKAA10.65734144
64CSNK1D0.63699074
65RIPK10.63338344
66MAP2K60.63181300
67SGK30.62830474
68FGFR30.61168503
69IRAK30.60987278
70ZAP700.60400803
71TGFBR20.58747777
72MAPK70.57878232
73CSF1R0.56607195
74PTK20.55830628
75PRKCB0.55656733
76RPS6KA30.55304217
77IKBKE0.54986455
78SGK10.53871307
79AKT30.51562081
80MYLK0.51349043
81PRKCQ0.51089736
82STK380.50727303
83CSNK1E0.50656370
84PDPK10.49329125
85CSNK1G10.48352738
86PRKACB0.47308501
87EPHA40.47258991
88SGK20.46185944
89PKN10.45157085
90SRC0.45066041
91BLK0.44967089
92CSNK2A10.44326321
93GRK10.44015747
94IGF1R0.43196756
95CAMKK10.43185622
96RET0.43074030
97MAP3K50.42382089
98MAPKAPK30.41927805
99MAP3K130.41637574
100TAOK20.41429916
101PRKCG0.40719231
102MAP2K10.40658181
103CDK40.39694517
104ICK0.37808233
105MTOR0.35890462
106MAP3K60.35846490
107CSNK2A20.35459716
108EGFR0.34635619
109WNK30.34317332
110MAPK30.33837676
111BRSK20.33829423
112PDGFRA0.33736154
113CAMK40.32450063
114SGK4940.32073159
115SGK2230.32073159
116PBK0.30952437
117PDK10.29500376
118MAP3K10.28488096
119CSNK1G20.27963967
120IRAK10.27462488
121PRKCA0.25230478
122CSNK1G30.25143056
123LATS20.24492183
124CAMK1G0.23518092
125IRAK20.23267785
126PAK30.21871220
127ABL10.21592987
128BMX0.20887010
129MAP2K20.19216031
130PIK3CA0.18504858

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.56369536
2Nitrogen metabolism_Homo sapiens_hsa009103.68106405
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.39240662
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.33354223
5Arginine biosynthesis_Homo sapiens_hsa002203.08861512
6Complement and coagulation cascades_Homo sapiens_hsa046102.86623136
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.67942767
8Tryptophan metabolism_Homo sapiens_hsa003802.67777011
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.63271799
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.54785966
11Fatty acid degradation_Homo sapiens_hsa000712.47010547
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.35953947
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.22711042
14Butanoate metabolism_Homo sapiens_hsa006502.14146807
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10962881
16Peroxisome_Homo sapiens_hsa041462.06306007
17Chemical carcinogenesis_Homo sapiens_hsa052041.93156048
18Steroid hormone biosynthesis_Homo sapiens_hsa001401.92897595
19Propanoate metabolism_Homo sapiens_hsa006401.90108926
20Histidine metabolism_Homo sapiens_hsa003401.90025068
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.90020694
22PPAR signaling pathway_Homo sapiens_hsa033201.85671706
23Staphylococcus aureus infection_Homo sapiens_hsa051501.83550022
24Fatty acid metabolism_Homo sapiens_hsa012121.79358378
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.76825434
26Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.75081085
27Caffeine metabolism_Homo sapiens_hsa002321.72205720
28Retinol metabolism_Homo sapiens_hsa008301.69717981
29beta-Alanine metabolism_Homo sapiens_hsa004101.69026498
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64633263
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.60136567
32Selenocompound metabolism_Homo sapiens_hsa004501.59516332
33Phenylalanine metabolism_Homo sapiens_hsa003601.55870935
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.50604065
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.50285905
36Bile secretion_Homo sapiens_hsa049761.49881139
37Tyrosine metabolism_Homo sapiens_hsa003501.44680102
38Sulfur metabolism_Homo sapiens_hsa009201.34936452
39Pyruvate metabolism_Homo sapiens_hsa006201.33682861
40Fatty acid elongation_Homo sapiens_hsa000621.31841706
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.31545567
42Starch and sucrose metabolism_Homo sapiens_hsa005001.27475963
43Steroid biosynthesis_Homo sapiens_hsa001001.22545803
44ABC transporters_Homo sapiens_hsa020101.21583358
45Folate biosynthesis_Homo sapiens_hsa007901.20170742
46Biosynthesis of amino acids_Homo sapiens_hsa012301.19720499
47Fat digestion and absorption_Homo sapiens_hsa049751.17035580
48Carbon metabolism_Homo sapiens_hsa012001.11334975
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02903053
50Maturity onset diabetes of the young_Homo sapiens_hsa049501.02882882
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.98126533
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.97929989
53Vitamin B6 metabolism_Homo sapiens_hsa007500.97642913
54Arginine and proline metabolism_Homo sapiens_hsa003300.94601183
55Sulfur relay system_Homo sapiens_hsa041220.93995317
56Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.86822801
57Vitamin digestion and absorption_Homo sapiens_hsa049770.86304375
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83557525
59Lysine degradation_Homo sapiens_hsa003100.80273724
60One carbon pool by folate_Homo sapiens_hsa006700.77476766
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68710831
62Glycerolipid metabolism_Homo sapiens_hsa005610.65820254
63Glutathione metabolism_Homo sapiens_hsa004800.62433709
64Pentose phosphate pathway_Homo sapiens_hsa000300.56801567
65Fatty acid biosynthesis_Homo sapiens_hsa000610.53224353
66Metabolic pathways_Homo sapiens_hsa011000.45355484
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44994136
68Pertussis_Homo sapiens_hsa051330.39798528
69Prion diseases_Homo sapiens_hsa050200.39430457
70Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.38770246
71alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25251447
72Galactose metabolism_Homo sapiens_hsa000520.25072738
73Insulin resistance_Homo sapiens_hsa049310.23785722
74Adipocytokine signaling pathway_Homo sapiens_hsa049200.22555856
75Fructose and mannose metabolism_Homo sapiens_hsa000510.22383939
76Linoleic acid metabolism_Homo sapiens_hsa005910.21449214
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20004183
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.15657723
79Glucagon signaling pathway_Homo sapiens_hsa049220.09916866
80Other glycan degradation_Homo sapiens_hsa005110.03378146
81AMPK signaling pathway_Homo sapiens_hsa041520.01805380
82Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2394536
83Bladder cancer_Homo sapiens_hsa05219-0.2371573
84N-Glycan biosynthesis_Homo sapiens_hsa00510-0.2369029
85Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.2348591
86Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2333570
87Amoebiasis_Homo sapiens_hsa05146-0.2307568
88Type II diabetes mellitus_Homo sapiens_hsa04930-0.2222233
89Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2217536
90Circadian rhythm_Homo sapiens_hsa04710-0.2060700
91Sphingolipid metabolism_Homo sapiens_hsa00600-0.2053638
92Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1932698
93Renin-angiotensin system_Homo sapiens_hsa04614-0.1894217
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1843686
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1814641
96Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1751913
97Hepatitis C_Homo sapiens_hsa05160-0.1702728
98Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1545001
99Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1516127
100Regulation of autophagy_Homo sapiens_hsa04140-0.1425101
101African trypanosomiasis_Homo sapiens_hsa05143-0.1360197
102Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1164041
103Insulin signaling pathway_Homo sapiens_hsa04910-0.1012310
104Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0835589
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0752767
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0670339
107Mineral absorption_Homo sapiens_hsa04978-0.0643530
108Serotonergic synapse_Homo sapiens_hsa04726-0.0589759
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0532405

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