MTTP

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: MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1triglyceride-rich lipoprotein particle remodeling (GO:0034370)7.25054513
2regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)7.19687541
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.35942098
4L-phenylalanine catabolic process (GO:0006559)6.35942098
5intestinal cholesterol absorption (GO:0030299)6.22973544
6L-phenylalanine metabolic process (GO:0006558)6.12078543
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.12078543
8high-density lipoprotein particle remodeling (GO:0034375)5.83562979
9regulation of cholesterol esterification (GO:0010872)5.82223723
10fat-soluble vitamin biosynthetic process (GO:0042362)5.81584747
11regulation of triglyceride catabolic process (GO:0010896)5.78975445
12aromatic amino acid family catabolic process (GO:0009074)5.74438987
13phospholipid efflux (GO:0033700)5.64538028
14urea cycle (GO:0000050)5.64346035
15urea metabolic process (GO:0019627)5.64346035
16intestinal absorption (GO:0050892)5.54861043
17reverse cholesterol transport (GO:0043691)5.41918723
18tryptophan catabolic process (GO:0006569)5.23146192
19indole-containing compound catabolic process (GO:0042436)5.23146192
20indolalkylamine catabolic process (GO:0046218)5.23146192
21alpha-linolenic acid metabolic process (GO:0036109)5.22716039
22kynurenine metabolic process (GO:0070189)5.17118017
23protein-lipid complex remodeling (GO:0034368)5.17097595
24macromolecular complex remodeling (GO:0034367)5.17097595
25plasma lipoprotein particle remodeling (GO:0034369)5.17097595
26nitrogen cycle metabolic process (GO:0071941)5.16080558
27bile acid biosynthetic process (GO:0006699)5.13991236
28hormone catabolic process (GO:0042447)5.11811802
29cholesterol efflux (GO:0033344)5.10419594
30plasma lipoprotein particle assembly (GO:0034377)5.09034542
31NADH metabolic process (GO:0006734)5.03669368
32negative regulation of cholesterol transport (GO:0032375)4.99234640
33negative regulation of sterol transport (GO:0032372)4.99234640
34positive regulation of lipoprotein lipase activity (GO:0051006)4.98653077
35positive regulation of triglyceride lipase activity (GO:0061365)4.98653077
36cysteine metabolic process (GO:0006534)4.97621347
37glyoxylate metabolic process (GO:0046487)4.95126734
38tryptophan metabolic process (GO:0006568)4.93746586
39* lipoprotein transport (GO:0042953)4.89968844
40drug catabolic process (GO:0042737)4.88598447
41fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.74575271
42negative regulation of fibrinolysis (GO:0051918)4.73163085
43triglyceride homeostasis (GO:0070328)4.72546136
44acylglycerol homeostasis (GO:0055090)4.72546136
45diacylglycerol metabolic process (GO:0046339)4.67144021
46very-low-density lipoprotein particle assembly (GO:0034379)4.64803730
47protein-lipid complex assembly (GO:0065005)4.64583931
48homocysteine metabolic process (GO:0050667)4.59762768
49bile acid metabolic process (GO:0008206)4.59266488
50sulfur amino acid catabolic process (GO:0000098)4.59042518
51regulation of protein activation cascade (GO:2000257)4.56507390
52fructose metabolic process (GO:0006000)4.53859866
53regulation of fibrinolysis (GO:0051917)4.53058548
54protein carboxylation (GO:0018214)4.49546547
55peptidyl-glutamic acid carboxylation (GO:0017187)4.49546547
56flavonoid metabolic process (GO:0009812)4.49503884
57complement activation, alternative pathway (GO:0006957)4.48489281
58bile acid and bile salt transport (GO:0015721)4.47968851
59omega-hydroxylase P450 pathway (GO:0097267)4.47240061
60plasma lipoprotein particle clearance (GO:0034381)4.43828648
61regulation of guanylate cyclase activity (GO:0031282)4.40557862
62regulation of bile acid biosynthetic process (GO:0070857)4.39122973
63serine family amino acid catabolic process (GO:0009071)4.33453971
64amino-acid betaine metabolic process (GO:0006577)4.28483942
65lysine catabolic process (GO:0006554)4.26673835
66lysine metabolic process (GO:0006553)4.26673835
67regulation of complement activation (GO:0030449)4.25388117
68* cholesterol homeostasis (GO:0042632)4.22522301
69cellular glucuronidation (GO:0052695)4.18196659
70aromatic amino acid family metabolic process (GO:0009072)4.17233001
71* sterol homeostasis (GO:0055092)4.15908045
72plasma lipoprotein particle organization (GO:0071827)4.14843603
73* lipoprotein metabolic process (GO:0042157)4.14711329
74positive regulation of lipid catabolic process (GO:0050996)4.11902299
75regulation of systemic arterial blood pressure by hormone (GO:0001990)4.10120542
76regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.10120542
77endocrine process (GO:0050886)4.10120542
78phospholipid homeostasis (GO:0055091)4.00119115
79regulation of cholesterol homeostasis (GO:2000188)3.95902964
80tyrosine metabolic process (GO:0006570)3.95860614
81alpha-amino acid catabolic process (GO:1901606)3.95265913
82protein-lipid complex subunit organization (GO:0071825)3.95110406
83glutamine family amino acid biosynthetic process (GO:0009084)3.92938935
84alkaloid metabolic process (GO:0009820)3.90895988
85glutamate metabolic process (GO:0006536)3.88366908
86cellular ketone body metabolic process (GO:0046950)3.87128725
87low-density lipoprotein particle remodeling (GO:0034374)3.82924219
88positive regulation of fatty acid biosynthetic process (GO:0045723)3.75655033
89arginine metabolic process (GO:0006525)3.73766576
90glycine metabolic process (GO:0006544)3.72860119
91indolalkylamine metabolic process (GO:0006586)3.71314229
92uronic acid metabolic process (GO:0006063)3.71247090
93glucuronate metabolic process (GO:0019585)3.71247090
94sterol transport (GO:0015918)3.68581860
95cholesterol transport (GO:0030301)3.68581860
96serine family amino acid metabolic process (GO:0009069)3.68506315
97angiotensin maturation (GO:0002003)3.68452894
98coenzyme catabolic process (GO:0009109)3.67810849
99cellular modified amino acid catabolic process (GO:0042219)3.66876670
100serine family amino acid biosynthetic process (GO:0009070)3.66544188
101positive regulation of triglyceride metabolic process (GO:0090208)3.65985501
102benzene-containing compound metabolic process (GO:0042537)3.65820866
103cellular amino acid catabolic process (GO:0009063)3.65790782
104epoxygenase P450 pathway (GO:0019373)3.64275782
105drug transport (GO:0015893)3.63336772
106drug metabolic process (GO:0017144)3.62871030
107exogenous drug catabolic process (GO:0042738)3.60554379
108ethanol oxidation (GO:0006069)3.58837546
109response to nitrosative stress (GO:0051409)3.56481218
110cellular biogenic amine catabolic process (GO:0042402)3.55608189
111amine catabolic process (GO:0009310)3.55608189
112regulation of systemic arterial blood pressure (GO:0003073)3.54269256
113dicarboxylic acid biosynthetic process (GO:0043650)3.52303382
114imidazole-containing compound metabolic process (GO:0052803)3.51955946
115drug transmembrane transport (GO:0006855)3.51262047
116heme transport (GO:0015886)3.50433839
117positive regulation of guanylate cyclase activity (GO:0031284)3.43703349
118proline metabolic process (GO:0006560)3.42291684
119drinking behavior (GO:0042756)3.40457537
120ethanol metabolic process (GO:0006067)3.37207498
121vitamin biosynthetic process (GO:0009110)3.36178929
122phenylpropanoid metabolic process (GO:0009698)3.35325799
123complement activation, classical pathway (GO:0006958)3.35117197
124negative regulation of blood coagulation (GO:0030195)3.30665283
125negative regulation of hemostasis (GO:1900047)3.30665283
126L-ascorbic acid metabolic process (GO:0019852)3.30104409
127negative regulation of lipase activity (GO:0060192)3.28791536
128renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.24795797
129regulation of cholesterol metabolic process (GO:0090181)3.22891146
130maintenance of gastrointestinal epithelium (GO:0030277)3.22229684
131midgut development (GO:0007494)3.19275220
132urate metabolic process (GO:0046415)3.15416275
133blood coagulation, intrinsic pathway (GO:0007597)3.14518816
134renal system process involved in regulation of blood volume (GO:0001977)3.13909261

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.86737931
2PPARA_22158963_ChIP-Seq_LIVER_Mouse6.96423223
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.63659607
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.27768936
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.79168079
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.68492892
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.54898137
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.92693052
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.55416480
10HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.65965431
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04776278
12ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.1529456
13TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.93074435
14CDX2_20551321_ChIP-Seq_CACO-2_Human1.83130465
15GATA1_22025678_ChIP-Seq_K562_Human1.77273457
16SOX2_27498859_Chip-Seq_STOMACH_Mouse1.75673119
17TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74329675
18TCF4_18268006_ChIP-ChIP_LS174T_Human1.71375672
19TP63_17297297_ChIP-ChIP_HaCaT_Human1.70261739
20* FOXA2_19822575_ChIP-Seq_HepG2_Human1.68741685
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68212510
22CLOCK_20551151_ChIP-Seq_293T_Human1.64511804
23* HNF4A_19822575_ChIP-Seq_HepG2_Human1.61120045
24GATA4_25053715_ChIP-Seq_YYC3_Human1.52038344
25STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.42808209
26HTT_18923047_ChIP-ChIP_STHdh_Human1.39656502
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.34333089
28AR_21909140_ChIP-Seq_LNCAP_Human1.34055620
29BP1_19119308_ChIP-ChIP_Hs578T_Human1.33628931
30IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.29043827
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.22540017
32ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.07819469
33RXRA_24833708_ChIP-Seq_LIVER_Mouse1.05341564
34GATA6_25053715_ChIP-Seq_YYC3_Human1.05278902
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.95950020
36BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92749844
37E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.91794270
38NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.90231309
39SOX2_20726797_ChIP-Seq_SW620_Human0.89423883
40PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89156025
41PPAR_26484153_Chip-Seq_NCI-H1993_Human0.88704952
42IRF8_22096565_ChIP-ChIP_GC-B_Human0.86522095
43ESR2_21235772_ChIP-Seq_MCF-7_Human0.86257258
44AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.85865464
45RXR_22108803_ChIP-Seq_LS180_Human0.85128893
46KAP1_22055183_ChIP-Seq_ESCs_Mouse0.82438440
47RARA_24833708_ChIP-Seq_LIVER_Mouse0.81428764
48ESR1_15608294_ChIP-ChIP_MCF-7_Human0.79844464
49PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.79407005
50RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.78565341
51CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78107050
52ZNF263_19887448_ChIP-Seq_K562_Human0.77953370
53* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.77781360
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.77514126
55SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76677894
56Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76469324
57KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.72921559
58TCF3_18692474_ChIP-Seq_MEFs_Mouse0.72462854
59* JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.72229529
60SOX2_22085726_ChIP-Seq_NPCs_Mouse0.71084934
61PCGF2_27294783_Chip-Seq_NPCs_Mouse0.70874965
62GATA2_19941826_ChIP-Seq_K562_Human0.70492261
63NANOG_20526341_ChIP-Seq_ESCs_Human0.68968692
64EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.68699600
65SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.68636660
66PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.68083642
67AUTS2_25519132_ChIP-Seq_293T-REX_Human0.68042126
68SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.67907523
69SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.67124144
70EGR1_19032775_ChIP-ChIP_M12_Human0.66876917
71FOXO3_23340844_ChIP-Seq_DLD1_Human0.66130775
72CTNNB1_20460455_ChIP-Seq_HCT116_Human0.65859746
73FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.65629373
74FOXA1_21572438_ChIP-Seq_LNCaP_Human0.64566317
75FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.64529213
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63952220
77RARG_19884340_ChIP-ChIP_MEFs_Mouse0.63697744
78STAT1_17558387_ChIP-Seq_HELA_Human0.63585371
79FOXA1_25552417_ChIP-Seq_VCAP_Human0.62934079
80NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.62712594
81SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.62510813
82CEBPB_22108803_ChIP-Seq_LS180_Human0.62223213
83P63_26484246_Chip-Seq_KERATINOCYTES_Human0.61489356
84HNFA_21074721_ChIP-Seq_CACO-2_Human0.61298159
85SOX2_21211035_ChIP-Seq_LN229_Human0.60918000
86SA1_27219007_Chip-Seq_Bcells_Human0.59748453
87PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.59733601
88BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.59582546
89TCF4_22108803_ChIP-Seq_LS180_Human0.59368418
90ESR1_21235772_ChIP-Seq_MCF-7_Human0.59242522
91MYC_19915707_ChIP-ChIP_AK7_Human0.59208685
92AR_20517297_ChIP-Seq_VCAP_Human0.59186818
93GATA2_22383799_ChIP-Seq_G1ME_Mouse0.59027992
94* TP63_23658742_ChIP-Seq_EP156T_Human0.58820713
95CTCF_27219007_Chip-Seq_Bcells_Human0.58249646
96RARB_24833708_ChIP-Seq_LIVER_Mouse0.57791072
97LXR_22292898_ChIP-Seq_THP-1_Human0.57663908
98* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.56458281
99FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.56392764
100ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.56326348
101SRY_22984422_ChIP-ChIP_TESTIS_Rat0.56095185
102MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.55784278
103NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.55471305
104NRF2_20460467_ChIP-Seq_MEFs_Mouse0.55471305
105STAT3_1855785_ChIP-Seq_MESCs_Mouse0.54256979
106GATA1_19941826_ChIP-Seq_K562_Human0.53836136
107FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53779054
108ESR1_20079471_ChIP-ChIP_T-47D_Human0.53020252
109ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.52915215
110EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.52441853
111GATA1_19941827_ChIP-Seq_MEL_Mouse0.51251606
112CBP_21632823_ChIP-Seq_H3396_Human0.51180396
113ESET_19884257_ChIP-Seq_ESCs_Mouse0.50951742
114TAF2_19829295_ChIP-Seq_ESCs_Human0.49939175
115CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.49852248
116* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.49814114
117ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.49092682
118CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.47906150
119CDX2_22108803_ChIP-Seq_LS180_Human0.47714960
120P53_21459846_ChIP-Seq_SAOS-2_Human0.47487756
121CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.47203016
122* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.47036269
123RACK7_27058665_Chip-Seq_MCF-7_Human0.46593590
124BCAT_22108803_ChIP-Seq_LS180_Human0.46116716
125TRIM28_21343339_ChIP-Seq_HEK293_Human0.45964769
126GATA3_24758297_ChIP-Seq_MCF-7_Human0.44695347
127BCOR_27268052_Chip-Seq_Bcells_Human0.43853380
128ERG_20517297_ChIP-Seq_VCAP_Human0.42904713
129KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.42420360

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis8.93379173
2MP0002139_abnormal_hepatobiliary_system7.81067227
3MP0005085_abnormal_gallbladder_physiolo6.07536147
4MP0005365_abnormal_bile_salt5.51506694
5MP0008875_abnormal_xenobiotic_pharmacok4.98375665
6MP0003252_abnormal_bile_duct4.16321102
7MP0009840_abnormal_foam_cell4.00914838
8MP0001666_abnormal_nutrient_absorption3.97230563
9MP0003806_abnormal_nucleotide_metabolis3.70214157
10* MP0010329_abnormal_lipoprotein_level3.57330162
11MP0005332_abnormal_amino_acid2.50469984
12MP0005083_abnormal_biliary_tract2.39999140
13MP0004019_abnormal_vitamin_homeostasis2.37776652
14MP0003191_abnormal_cellular_cholesterol2.18916252
15* MP0000609_abnormal_liver_physiology1.99127990
16MP0003195_calcinosis1.97445325
17* MP0002118_abnormal_lipid_homeostasis1.95766446
18MP0009697_abnormal_copulation1.87359402
19MP0005409_darkened_coat_color1.69475889
20MP0005319_abnormal_enzyme/_coenzyme1.65044647
21MP0003868_abnormal_feces_composition1.63454239
22MP0001764_abnormal_homeostasis1.59287602
23MP0002138_abnormal_hepatobiliary_system1.52434733
24MP0005584_abnormal_enzyme/coenzyme_acti1.39322378
25MP0005451_abnormal_body_composition1.31566880
26MP0005084_abnormal_gallbladder_morpholo1.30751202
27MP0009643_abnormal_urine_homeostasis1.26621234
28MP0002254_reproductive_system_inflammat1.24932459
29MP0004264_abnormal_extraembryonic_tissu1.23061064
30MP0003705_abnormal_hypodermis_morpholog1.20685257
31MP0001664_abnormal_digestion1.18295464
32MP0003656_abnormal_erythrocyte_physiolo1.12157119
33MP0003011_delayed_dark_adaptation1.08312354
34MP0010234_abnormal_vibrissa_follicle1.07773908
35MP0003879_abnormal_hair_cell1.06368991
36* MP0000598_abnormal_liver_morphology1.00735902
37MP0002822_catalepsy1.00364989
38MP0000604_amyloidosis0.94624369
39MP0003183_abnormal_peptide_metabolism0.92011254
40MP0005636_abnormal_mineral_homeostasis0.91984940
41MP0009764_decreased_sensitivity_to0.91268115
42MP0000566_synostosis0.91189109
43MP0005448_abnormal_energy_balance0.89989191
44* MP0009642_abnormal_blood_homeostasis0.83898223
45MP0003186_abnormal_redox_activity0.83148266
46MP0002876_abnormal_thyroid_physiology0.82811704
47MP0001765_abnormal_ion_homeostasis0.82094173
48MP0009763_increased_sensitivity_to0.81617712
49MP0009765_abnormal_xenobiotic_induced0.80855306
50MP0005376_homeostasis/metabolism_phenot0.80630068
51MP0004147_increased_porphyrin_level0.78743155
52MP0009053_abnormal_anal_canal0.78188409
53MP0000678_abnormal_parathyroid_gland0.77208501
54MP0004270_analgesia0.77111079
55MP0005266_abnormal_metabolism0.76773263
56MP0004858_abnormal_nervous_system0.74471775
57MP0002078_abnormal_glucose_homeostasis0.74418014
58* MP0008469_abnormal_protein_level0.73771143
59MP0005647_abnormal_sex_gland0.73487580
60MP0000490_abnormal_crypts_of0.70989285
61MP0005408_hypopigmentation0.70495832
62MP0005058_abnormal_lysosome_morphology0.68910429
63MP0003718_maternal_effect0.68457737
64MP0000462_abnormal_digestive_system0.68080530
65MP0002971_abnormal_brown_adipose0.66973659
66MP0006036_abnormal_mitochondrial_physio0.65635883
67MP0005334_abnormal_fat_pad0.63893547
68MP0004043_abnormal_pH_regulation0.63580836
69MP0010352_gastrointestinal_tract_polyps0.61578449
70MP0002796_impaired_skin_barrier0.57818229
71MP0001501_abnormal_sleep_pattern0.56086177
72MP0010368_abnormal_lymphatic_system0.55309490
73MP0002089_abnormal_postnatal_growth/wei0.55303804
74MP0000538_abnormal_urinary_bladder0.53764834
75MP0005535_abnormal_body_temperature0.53098909
76MP0001845_abnormal_inflammatory_respons0.53004320
77MP0003638_abnormal_response/metabolism_0.52541047
78MP0001756_abnormal_urination0.52360058
79MP0005220_abnormal_exocrine_pancreas0.52283125
80MP0008872_abnormal_physiological_respon0.52132448
81MP0002136_abnormal_kidney_physiology0.51322241
82MP0009384_cardiac_valve_regurgitation0.48362288
83MP0005464_abnormal_platelet_physiology0.47841599
84MP0003300_gastrointestinal_ulcer0.47270641
85MP0006035_abnormal_mitochondrial_morpho0.46243820
86MP0003329_amyloid_beta_deposits0.46113024
87MP0001188_hyperpigmentation0.45933650
88MP0008873_increased_physiological_sensi0.45889152
89MP0009379_abnormal_foot_pigmentation0.44986678
90MP0005166_decreased_susceptibility_to0.44277629
91MP0000639_abnormal_adrenal_gland0.42957859
92MP0002098_abnormal_vibrissa_morphology0.42464269
93MP0003953_abnormal_hormone_level0.41489618
94MP0001873_stomach_inflammation0.41482238
95MP0002132_abnormal_respiratory_system0.41400066
96MP0009115_abnormal_fat_cell0.41280931
97MP0001663_abnormal_digestive_system0.41145757
98MP0005395_other_phenotype0.40935515
99MP0009785_altered_susceptibility_to0.39611248
100MP0005381_digestive/alimentary_phenotyp0.39522590
101MP0005670_abnormal_white_adipose0.37601148
102MP0004130_abnormal_muscle_cell0.37506388
103MP0003690_abnormal_glial_cell0.36834384
104MP0010155_abnormal_intestine_physiology0.36198159
105MP0000579_abnormal_nail_morphology0.35465599
106MP0000477_abnormal_intestine_morphology0.35063848
107MP0001881_abnormal_mammary_gland0.34959276
108MP0000230_abnormal_systemic_arterial0.34689653
109MP0003866_abnormal_defecation0.34090892
110MP0000427_abnormal_hair_cycle0.33982652
111MP0005248_abnormal_Harderian_gland0.32982725
112MP0002896_abnormal_bone_mineralization0.32151361
113MP0006138_congestive_heart_failure0.31751363
114MP0008874_decreased_physiological_sensi0.31402441
115MP0004947_skin_inflammation0.31152130
116MP0005167_abnormal_blood-brain_barrier0.30883172
117MP0000249_abnormal_blood_vessel0.30669630
118MP0005666_abnormal_adipose_tissue0.30461570
119MP0001661_extended_life_span0.30460742
120MP0002135_abnormal_kidney_morphology0.30414462
121MP0002166_altered_tumor_susceptibility0.29649743
122MP0003453_abnormal_keratinocyte_physiol0.29399769
123MP0004782_abnormal_surfactant_physiolog0.29106841
124MP0003315_abnormal_perineum_morphology0.28846145
125MP0001485_abnormal_pinna_reflex0.27959034
126MP0005023_abnormal_wound_healing0.27929775
127MP0006054_spinal_hemorrhage0.27707814
128MP0003122_maternal_imprinting0.27261416
129MP0004272_abnormal_basement_membrane0.25663911

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.07562120
2Abnormality of monocarboxylic acid metabolism (HP:0010996)6.48348760
3Xanthomatosis (HP:0000991)6.41773718
4Deep venous thrombosis (HP:0002625)6.39401039
5* Hypobetalipoproteinemia (HP:0003563)6.38339405
6Abnormality of aromatic amino acid family metabolism (HP:0004338)6.33804612
7Prolonged partial thromboplastin time (HP:0003645)5.73198790
8Abnormality of glutamine family amino acid metabolism (HP:0010902)5.51417744
9Conjugated hyperbilirubinemia (HP:0002908)4.82635793
10Epidermoid cyst (HP:0200040)4.74720532
11Hyperlipoproteinemia (HP:0010980)4.69382660
12* Hypolipoproteinemia (HP:0010981)4.65085454
13Complement deficiency (HP:0004431)4.60965342
14Hyperammonemia (HP:0001987)4.48891537
15Hyperglycinuria (HP:0003108)4.33107070
16Abnormality of aspartate family amino acid metabolism (HP:0010899)4.23776157
17Abnormality of sulfur amino acid metabolism (HP:0004339)4.21517993
18* Fat malabsorption (HP:0002630)4.15811269
19* Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.14149738
20Abnormality of the common coagulation pathway (HP:0010990)4.12702502
21Abnormality of serine family amino acid metabolism (HP:0010894)4.05767242
22Abnormality of glycine metabolism (HP:0010895)4.05767242
23Hypercholesterolemia (HP:0003124)4.04827389
24Widely patent fontanelles and sutures (HP:0004492)3.99096860
25Joint hemorrhage (HP:0005261)3.98011646
26Hypoalphalipoproteinemia (HP:0003233)3.97031189
27Hyperglycinemia (HP:0002154)3.90209445
28Abnormality of the vitamin B12 metabolism (HP:0004341)3.86553286
29Hypoglycemic coma (HP:0001325)3.84342271
30Ketosis (HP:0001946)3.81866906
31Abnormality of vitamin B metabolism (HP:0004340)3.64340545
32Malnutrition (HP:0004395)3.63416490
33Chronic diarrhea (HP:0002028)3.60493524
34Abnormality of pyrimidine metabolism (HP:0004353)3.59964066
35Abnormality of methionine metabolism (HP:0010901)3.55107521
36Hyperbilirubinemia (HP:0002904)3.51108694
37Abnormality of the intrinsic pathway (HP:0010989)3.42189472
38Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.35846700
39Abnormality of complement system (HP:0005339)3.34195600
40Abnormality of nucleobase metabolism (HP:0010932)3.20415128
41Abnormality of fatty-acid metabolism (HP:0004359)3.15859870
42Ileus (HP:0002595)3.11437589
43Potter facies (HP:0002009)3.06046054
44Facial shape deformation (HP:0011334)3.06046054
45Metabolic acidosis (HP:0001942)3.03087316
46Abnormality of proline metabolism (HP:0010907)3.02482992
47Hydroxyprolinuria (HP:0003080)3.02482992
48Abnormality of purine metabolism (HP:0004352)3.00640659
49Nephritis (HP:0000123)2.91295814
50Ketoacidosis (HP:0001993)2.90451878
51Wide cranial sutures (HP:0010537)2.89840879
52Steatorrhea (HP:0002570)2.89356631
53Abnormal gallbladder physiology (HP:0012438)2.88149410
54Cholecystitis (HP:0001082)2.88149410
55Skin nodule (HP:0200036)2.84090208
56Hyperphosphaturia (HP:0003109)2.82135404
57Hepatocellular carcinoma (HP:0001402)2.74465838
58Abnormal urine phosphate concentration (HP:0012599)2.74245515
59Spontaneous abortion (HP:0005268)2.69784507
60Delayed CNS myelination (HP:0002188)2.67307228
61* Acanthocytosis (HP:0001927)2.65595358
62Megaloblastic anemia (HP:0001889)2.63389364
63Osteomalacia (HP:0002749)2.62435152
64Abnormality of serum amino acid levels (HP:0003112)2.61446643
65Hypoglycemic seizures (HP:0002173)2.60101792
66Hypophosphatemia (HP:0002148)2.59955876
67Abnormal gallbladder morphology (HP:0012437)2.58025457
68Myocardial infarction (HP:0001658)2.54882948
69Cholelithiasis (HP:0001081)2.54523327
70Systemic lupus erythematosus (HP:0002725)2.50342486
71Hypochromic microcytic anemia (HP:0004840)2.49654244
72Lethargy (HP:0001254)2.47022438
73Glycosuria (HP:0003076)2.44470925
74Abnormality of urine glucose concentration (HP:0011016)2.44470925
75Hyperuricemia (HP:0002149)2.43942825
76Increased purine levels (HP:0004368)2.43942825
77Vascular calcification (HP:0004934)2.41821496
78Abnormality of dicarboxylic acid metabolism (HP:0010995)2.40811069
79Dicarboxylic aciduria (HP:0003215)2.40811069
80* Poikilocytosis (HP:0004447)2.36277321
81Hypophosphatemic rickets (HP:0004912)2.34686023
82Amyloidosis (HP:0011034)2.34458474
83Alkalosis (HP:0001948)2.33944058
84Thin bony cortex (HP:0002753)2.31577003
85Abdominal distention (HP:0003270)2.30020715
86Reticulocytosis (HP:0001923)2.27612760
87Abnormality of vitamin metabolism (HP:0100508)2.27556473
88Irritability (HP:0000737)2.27312996
89Pancreatitis (HP:0001733)2.27113818
90Late onset (HP:0003584)2.26916364
91Sensorimotor neuropathy (HP:0007141)2.25264588
92Abnormal tarsal ossification (HP:0008369)2.24201346
93Spastic diplegia (HP:0001264)2.20639420
94Esophageal varix (HP:0002040)2.19094287
95Focal segmental glomerulosclerosis (HP:0000097)2.18540900
96Gout (HP:0001997)2.17420541
97Hyperinsulinemic hypoglycemia (HP:0000825)2.16263220
98Cardiovascular calcification (HP:0011915)2.12123388
99Confusion (HP:0001289)2.11966538
100Hypotension (HP:0002615)2.10671287
101Glomerulonephritis (HP:0000099)2.10047137
102Cerebral edema (HP:0002181)2.08207536
103Abnormality of the gallbladder (HP:0005264)2.08070568
104Abnormal enzyme/coenzyme activity (HP:0012379)2.07220090
105Abnormality of alkaline phosphatase activity (HP:0004379)2.06268580
106Symptomatic seizures (HP:0011145)2.02894528
107Generalized aminoaciduria (HP:0002909)2.02559087
108Vomiting (HP:0002013)2.02550958
109Autoimmune thrombocytopenia (HP:0001973)2.02144873
110Proximal tubulopathy (HP:0000114)2.00467353
111Cerebral palsy (HP:0100021)2.00026180
112Increased mean platelet volume (HP:0011877)1.99803861
113Abnormality of transition element cation homeostasis (HP:0011030)1.98150067
114Elevated alkaline phosphatase (HP:0003155)1.96657894
115Nephrolithiasis (HP:0000787)1.96462159
116Flat acetabular roof (HP:0003180)1.94703201
117Nausea (HP:0002018)1.93829811
118Abnormality of carpal bone ossification (HP:0006257)1.93041180
119Brushfield spots (HP:0001088)1.92615022
120Neonatal onset (HP:0003623)1.91947208
121Rickets (HP:0002748)1.91233639
122Hemorrhage of the eye (HP:0011885)1.90672622
123Gingival bleeding (HP:0000225)1.89090417
124Opisthotonus (HP:0002179)1.88060539
125Recurrent gram-negative bacterial infections (HP:0005420)1.86061175
126Abnormal cartilage morphology (HP:0002763)1.84772134
127Enlarged kidneys (HP:0000105)1.84307746
128Menorrhagia (HP:0000132)1.83753436
129Glomerulosclerosis (HP:0000096)1.83003491
130Renal tubular dysfunction (HP:0000124)1.82296532
131Delayed epiphyseal ossification (HP:0002663)1.82155449
132Thrombophlebitis (HP:0004418)1.80130016
133Subcapsular cataract (HP:0000523)1.75826789
134Joint swelling (HP:0001386)1.75771417
135Renal tubular acidosis (HP:0001947)1.73451823

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B7.49467578
2BCKDK5.01631146
3FRK4.68632724
4ERN14.15670290
5MST1R3.85694631
6FGFR43.45378613
7SIK13.19565448
8PDK22.98079663
9TAOK32.93506161
10GRK62.65425541
11INSRR2.59389655
12ERBB42.57679499
13STK392.27819396
14MAP3K102.25931050
15LMTK22.24066501
16PTK62.14442605
17MAPK111.92118330
18MAP2K41.80974130
19LATS11.80433801
20PRKG21.76111079
21AKT31.74476923
22PKN21.65494215
23RIPK11.63502003
24EPHA21.53547408
25MAP3K121.53526818
26MST41.50301510
27FLT31.48004761
28MET1.44954865
29TYK21.43484196
30EPHA41.43002790
31TNIK1.42062767
32PRKAA21.33875118
33PIK3CG1.32709393
34MAP3K71.32193631
35OXSR11.31972898
36DDR21.30208784
37NUAK11.23733773
38ERBB21.17858266
39MAP2K21.17179806
40NLK1.12078992
41TBK11.11189517
42MAP3K21.10257276
43MAP3K111.07309793
44PDGFRA1.04919091
45MAP3K31.03488179
46NEK91.02229780
47MAP2K60.98878845
48ABL20.98746841
49TRIB30.98358105
50KDR0.97285048
51WNK40.92607099
52JAK20.89618048
53EPHB10.87674038
54DAPK20.85512607
55PTK20.82041130
56MAPK40.80077014
57CASK0.79955288
58IRAK30.79369562
59DYRK1B0.76909698
60FGFR20.75308201
61NME10.75120113
62PRKAA10.75042219
63PBK0.74462405
64PRKCZ0.71157729
65CDC42BPA0.70542790
66PRKACG0.70221112
67EPHB20.69592291
68JAK10.68828902
69CDK60.68221678
70MAPK150.67608785
71STK240.66597651
72MAP2K30.64959102
73STK38L0.63094723
74MAP3K140.62107496
75CAMK2G0.61733047
76PDPK10.60318971
77GRK10.59885573
78GSK3A0.58100883
79MAP2K10.58091005
80CSK0.57436803
81TYRO30.56749730
82FGFR10.55656943
83BMX0.55463346
84SRC0.53021473
85MAP3K10.50430720
86PRPF4B0.49686346
87ICK0.49162208
88PRKCQ0.48449805
89PIM10.48417183
90SGK30.44791848
91YES10.44652105
92CAMK1D0.41879766
93PINK10.40991361
94EPHA30.40357683
95PIK3CA0.40229071
96MAP3K50.40067331
97MELK0.39181495
98TESK20.38285596
99BRSK20.38192781
100MAP3K60.37579868
101PAK30.37473682
102IKBKE0.37253857
103PDK10.36749189
104MAP3K80.36555009
105STK100.34795039
106FYN0.34777855
107PRKCA0.34523755
108FER0.33909782
109TAOK10.33734675
110KSR20.32484428
111TGFBR20.32416869
112FGFR30.31420404
113NEK60.31261205
114PRKACA0.31202963
115STK30.31059246
116PRKG10.31042210
117BCR0.30946306
118IGF1R0.30295093
119PDK30.29708578
120PDK40.29708578
121IRAK10.29495233
122MAP4K10.28204016
123CDK40.27971955
124MAPK120.27787619
125RET0.26996878
126PRKCB0.26854441
127MYLK0.26672436
128CAMK2D0.26066401
129RPS6KB10.25752346
130SGK10.25573425
131PRKCD0.25214628
132SGK2230.24968912
133SGK4940.24968912
134FGR0.23514380
135EGFR0.21586069
136CSF1R0.21150361
137BMPR20.20715803
138ITK0.19799741
139CSNK1G10.19112748
140MATK0.18536163
141CSNK1A10.15558381

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.88937646
2Nitrogen metabolism_Homo sapiens_hsa009103.49035415
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.30966342
4Arginine biosynthesis_Homo sapiens_hsa002202.94689775
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.76252775
6Tryptophan metabolism_Homo sapiens_hsa003802.63284233
7* Fat digestion and absorption_Homo sapiens_hsa049752.47466259
8Fatty acid degradation_Homo sapiens_hsa000712.42653130
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.36003274
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.33985167
11Caffeine metabolism_Homo sapiens_hsa002322.28993766
12Complement and coagulation cascades_Homo sapiens_hsa046102.25096125
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.17296405
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.17014549
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10566113
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.08341158
17Histidine metabolism_Homo sapiens_hsa003402.05710217
18PPAR signaling pathway_Homo sapiens_hsa033201.96618212
19Vitamin digestion and absorption_Homo sapiens_hsa049771.95894215
20Butanoate metabolism_Homo sapiens_hsa006501.89818322
21Peroxisome_Homo sapiens_hsa041461.88581717
22Starch and sucrose metabolism_Homo sapiens_hsa005001.86041736
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.82085494
24Chemical carcinogenesis_Homo sapiens_hsa052041.80950298
25Bile secretion_Homo sapiens_hsa049761.80455239
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.74632796
27Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.71574713
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.69344356
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.68908248
30Folate biosynthesis_Homo sapiens_hsa007901.66538181
31Fatty acid metabolism_Homo sapiens_hsa012121.66462813
32Propanoate metabolism_Homo sapiens_hsa006401.64711385
33beta-Alanine metabolism_Homo sapiens_hsa004101.62557607
34Retinol metabolism_Homo sapiens_hsa008301.62045464
35Sulfur metabolism_Homo sapiens_hsa009201.61372612
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.55168500
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.49305775
38Selenocompound metabolism_Homo sapiens_hsa004501.46624685
39Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.46192395
40Pyruvate metabolism_Homo sapiens_hsa006201.39367195
41Phenylalanine metabolism_Homo sapiens_hsa003601.32364216
42Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32208315
43Staphylococcus aureus infection_Homo sapiens_hsa051501.31052412
44ABC transporters_Homo sapiens_hsa020101.29506651
45Cyanoamino acid metabolism_Homo sapiens_hsa004601.20795121
46Tyrosine metabolism_Homo sapiens_hsa003501.18026070
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17361487
48Carbon metabolism_Homo sapiens_hsa012001.17286746
49Biosynthesis of amino acids_Homo sapiens_hsa012301.15338344
50Fatty acid elongation_Homo sapiens_hsa000621.13863028
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12840100
52Steroid biosynthesis_Homo sapiens_hsa001001.11738455
53Arginine and proline metabolism_Homo sapiens_hsa003301.06103450
54Cysteine and methionine metabolism_Homo sapiens_hsa002701.06050333
55Galactose metabolism_Homo sapiens_hsa000521.05465049
56Renin-angiotensin system_Homo sapiens_hsa046141.05292605
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.03286081
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96995373
59Glycerolipid metabolism_Homo sapiens_hsa005610.92521395
60Glutathione metabolism_Homo sapiens_hsa004800.92438070
61Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89956984
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88281554
63Mineral absorption_Homo sapiens_hsa049780.78829966
64Lysine degradation_Homo sapiens_hsa003100.76577075
65Fructose and mannose metabolism_Homo sapiens_hsa000510.74199748
66Vitamin B6 metabolism_Homo sapiens_hsa007500.71955765
67Sulfur relay system_Homo sapiens_hsa041220.71610427
68Pentose phosphate pathway_Homo sapiens_hsa000300.70261841
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.70232502
70Fatty acid biosynthesis_Homo sapiens_hsa000610.60863815
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59761932
72Metabolic pathways_Homo sapiens_hsa011000.46833130
73One carbon pool by folate_Homo sapiens_hsa006700.45524622
74Other glycan degradation_Homo sapiens_hsa005110.38052543
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.36498557
76Protein digestion and absorption_Homo sapiens_hsa049740.31044207
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.30337166
78Linoleic acid metabolism_Homo sapiens_hsa005910.25930090
79Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.21891414
80Insulin resistance_Homo sapiens_hsa049310.20366186
81Pertussis_Homo sapiens_hsa051330.17048987
82Asthma_Homo sapiens_hsa053100.15259192
83Prion diseases_Homo sapiens_hsa050200.15159438
84Adipocytokine signaling pathway_Homo sapiens_hsa049200.14508368
85Pancreatic secretion_Homo sapiens_hsa049720.14375598
86Intestinal immune network for IgA production_Homo sapiens_hsa046720.07916848
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.05075674
88N-Glycan biosynthesis_Homo sapiens_hsa005100.02101293
89Glucagon signaling pathway_Homo sapiens_hsa049220.01507291
90Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2297205
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512-0.2112625
92Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1904048
93Ether lipid metabolism_Homo sapiens_hsa00565-0.1727873
94Bladder cancer_Homo sapiens_hsa05219-0.1623429
95Sphingolipid metabolism_Homo sapiens_hsa00600-0.1446840
96Insulin signaling pathway_Homo sapiens_hsa04910-0.1389155
97Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1241248
98Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1148883
99Hepatitis C_Homo sapiens_hsa05160-0.1122175
100Type II diabetes mellitus_Homo sapiens_hsa04930-0.1108941
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.1031556
102Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0823845
103Serotonergic synapse_Homo sapiens_hsa04726-0.0752576
104African trypanosomiasis_Homo sapiens_hsa05143-0.0678392
105Autoimmune thyroid disease_Homo sapiens_hsa05320-0.0576983
106Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0574993
107Allograft rejection_Homo sapiens_hsa05330-0.0418019
108AMPK signaling pathway_Homo sapiens_hsa04152-0.0271853
109Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0213920
110Renin secretion_Homo sapiens_hsa04924-0.0157534
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603-0.0001747

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