HNF4A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.19475728
2L-phenylalanine catabolic process (GO:0006559)7.19475728
3L-phenylalanine metabolic process (GO:0006558)6.94797500
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.94797500
5aromatic amino acid family catabolic process (GO:0009074)6.56751224
6epoxygenase P450 pathway (GO:0019373)6.32516151
7indole-containing compound catabolic process (GO:0042436)6.02210423
8indolalkylamine catabolic process (GO:0046218)6.02210423
9tryptophan catabolic process (GO:0006569)6.02210423
10glyoxylate metabolic process (GO:0046487)5.85990825
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.81190629
12kynurenine metabolic process (GO:0070189)5.78772004
13cysteine metabolic process (GO:0006534)5.71961935
14tryptophan metabolic process (GO:0006568)5.66834160
15bile acid biosynthetic process (GO:0006699)5.47318669
16intestinal absorption (GO:0050892)5.42547045
17urea metabolic process (GO:0019627)5.42531427
18urea cycle (GO:0000050)5.42531427
19sulfur amino acid catabolic process (GO:0000098)5.39596973
20lysine metabolic process (GO:0006553)5.25014750
21lysine catabolic process (GO:0006554)5.25014750
22homocysteine metabolic process (GO:0050667)5.18391868
23alpha-linolenic acid metabolic process (GO:0036109)5.14025549
24serine family amino acid catabolic process (GO:0009071)5.06410073
25nitrogen cycle metabolic process (GO:0071941)4.99273727
26fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.99164371
27high-density lipoprotein particle remodeling (GO:0034375)4.97810900
28negative regulation of fibrinolysis (GO:0051918)4.83866101
29regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)4.81792878
30bile acid metabolic process (GO:0008206)4.80854581
31aromatic amino acid family metabolic process (GO:0009072)4.78709525
32drug catabolic process (GO:0042737)4.73660531
33amino-acid betaine metabolic process (GO:0006577)4.71726601
34complement activation, alternative pathway (GO:0006957)4.69706957
35peptidyl-glutamic acid carboxylation (GO:0017187)4.68004246
36protein carboxylation (GO:0018214)4.68004246
37regulation of protein activation cascade (GO:2000257)4.67592632
38low-density lipoprotein particle remodeling (GO:0034374)4.63839898
39regulation of fibrinolysis (GO:0051917)4.62745378
40plasma lipoprotein particle organization (GO:0071827)4.60863380
41regulation of triglyceride catabolic process (GO:0010896)4.59600753
42drug transmembrane transport (GO:0006855)4.55591605
43regulation of cholesterol esterification (GO:0010872)4.51949977
44bile acid and bile salt transport (GO:0015721)4.51563860
45blood coagulation, intrinsic pathway (GO:0007597)4.51072935
46alpha-amino acid catabolic process (GO:1901606)4.49950203
47negative regulation of sterol transport (GO:0032372)4.46944187
48negative regulation of cholesterol transport (GO:0032375)4.46944187
49cellular ketone body metabolic process (GO:0046950)4.45145279
50reverse cholesterol transport (GO:0043691)4.43856470
51omega-hydroxylase P450 pathway (GO:0097267)4.42160518
52tyrosine metabolic process (GO:0006570)4.40557794
53regulation of complement activation (GO:0030449)4.36213998
54urate metabolic process (GO:0046415)4.35545355
55protein-lipid complex remodeling (GO:0034368)4.33878126
56macromolecular complex remodeling (GO:0034367)4.33878126
57plasma lipoprotein particle remodeling (GO:0034369)4.33878126
58protein-lipid complex subunit organization (GO:0071825)4.31795839
59cellular glucuronidation (GO:0052695)4.31159787
60phospholipid efflux (GO:0033700)4.30143240
61serine family amino acid metabolic process (GO:0009069)4.28145991
62glutamate metabolic process (GO:0006536)4.27482612
63indolalkylamine metabolic process (GO:0006586)4.26021707
64cellular amino acid catabolic process (GO:0009063)4.22168228
65cellular modified amino acid catabolic process (GO:0042219)4.21443261
66ethanol metabolic process (GO:0006067)4.18606585
67glycine metabolic process (GO:0006544)4.11969538
68amine catabolic process (GO:0009310)4.10569772
69cellular biogenic amine catabolic process (GO:0042402)4.10569772
70regulation of plasminogen activation (GO:0010755)4.10514793
71* triglyceride homeostasis (GO:0070328)4.08727615
72* acylglycerol homeostasis (GO:0055090)4.08727615
73benzene-containing compound metabolic process (GO:0042537)4.07351396
74exogenous drug catabolic process (GO:0042738)4.07156018
75fat-soluble vitamin biosynthetic process (GO:0042362)4.05717405
76negative regulation of blood coagulation (GO:0030195)4.04802912
77negative regulation of hemostasis (GO:1900047)4.04802912
78serine family amino acid biosynthetic process (GO:0009070)4.04120809
79regulation of bile acid biosynthetic process (GO:0070857)4.02961120
80coenzyme catabolic process (GO:0009109)4.01017675
81short-chain fatty acid metabolic process (GO:0046459)3.96172715
82plasma lipoprotein particle clearance (GO:0034381)3.93167747
83flavonoid metabolic process (GO:0009812)3.93072832
84ethanol oxidation (GO:0006069)3.91952630
85complement activation, classical pathway (GO:0006958)3.91027742
86phenylpropanoid metabolic process (GO:0009698)3.90474515
87cholesterol efflux (GO:0033344)3.90402909
88uronic acid metabolic process (GO:0006063)3.90049506
89glucuronate metabolic process (GO:0019585)3.90049506
90protein activation cascade (GO:0072376)3.89565648
91plasma lipoprotein particle assembly (GO:0034377)3.86398748
92drug transport (GO:0015893)3.84932414
93ketone body metabolic process (GO:1902224)3.84569367
94intestinal cholesterol absorption (GO:0030299)3.82686245
95dicarboxylic acid biosynthetic process (GO:0043650)3.82154305
96diacylglycerol metabolic process (GO:0046339)3.79449292
97arginine metabolic process (GO:0006525)3.79331977
98angiotensin maturation (GO:0002003)3.79163192
99negative regulation of coagulation (GO:0050819)3.77364394
100aspartate family amino acid catabolic process (GO:0009068)3.76914875
101acute-phase response (GO:0006953)3.76775662
102cholesterol homeostasis (GO:0042632)3.76568321
103aldehyde catabolic process (GO:0046185)3.76564628
104acetyl-CoA metabolic process (GO:0006084)3.74104769
105imidazole-containing compound metabolic process (GO:0052803)3.73781024
106sterol homeostasis (GO:0055092)3.73370901
107organic acid catabolic process (GO:0016054)3.73183445
108carboxylic acid catabolic process (GO:0046395)3.73183445
109positive regulation of lipoprotein lipase activity (GO:0051006)3.71126981
110positive regulation of triglyceride lipase activity (GO:0061365)3.71126981
111negative regulation of protein activation cascade (GO:2000258)3.69068559
112negative regulation of lipase activity (GO:0060192)3.65830429
113positive regulation of lipid catabolic process (GO:0050996)3.63055013
114very-low-density lipoprotein particle assembly (GO:0034379)3.59656001
115drug metabolic process (GO:0017144)3.59247083
116negative regulation of wound healing (GO:0061045)3.58753016
1172-oxoglutarate metabolic process (GO:0006103)3.58468388
118regulation of apoptotic cell clearance (GO:2000425)3.57807588
119fatty acid beta-oxidation (GO:0006635)3.56750692
120lipoprotein metabolic process (GO:0042157)3.55320960
121fatty acid oxidation (GO:0019395)3.55299916
122carnitine metabolic process (GO:0009437)3.53965413
123fibrinolysis (GO:0042730)3.53614958
124protein-lipid complex assembly (GO:0065005)3.50857102
125monocarboxylic acid catabolic process (GO:0072329)3.49268216
126complement activation (GO:0006956)3.47254534
127lipoprotein transport (GO:0042953)3.44833721
128hormone catabolic process (GO:0042447)3.43937441
129positive regulation of fatty acid biosynthetic process (GO:0045723)3.42240562
130renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.40727754
131regulation of humoral immune response (GO:0002920)3.33511418
132alkaloid metabolic process (GO:0009820)3.30966386
133heme transport (GO:0015886)3.30712192
134oxidative demethylation (GO:0070989)3.28698759
135sterol transport (GO:0015918)3.28638827
136cholesterol transport (GO:0030301)3.28638827
137proline metabolic process (GO:0006560)3.25115364
138positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.22008887
139positive regulation of hemostasis (GO:1900048)3.18101182
140positive regulation of blood coagulation (GO:0030194)3.18101182
141* lipid homeostasis (GO:0055088)3.09059747

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.07590387
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.04234233
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.42299516
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.30028725
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.90360131
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.75325972
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.62156832
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.89661873
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.62416046
10CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.60595083
11HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.46422276
12TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.09199420
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.03017208
14ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3484010
15CDX2_19796622_ChIP-Seq_MESCs_Mouse1.72104327
16CLOCK_20551151_ChIP-Seq_293T_Human1.70697872
17* FOXA2_19822575_ChIP-Seq_HepG2_Human1.68056190
18SOX2_27498859_Chip-Seq_STOMACH_Mouse1.58232412
19* HNF4A_19822575_ChIP-Seq_HepG2_Human1.56937934
20TCF4_18268006_ChIP-ChIP_LS174T_Human1.55593925
21STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.49745968
22GATA1_22025678_ChIP-Seq_K562_Human1.36012952
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.35964545
24* GATA4_25053715_ChIP-Seq_YYC3_Human1.31534080
25* CDX2_20551321_ChIP-Seq_CACO-2_Human1.26378647
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.23948373
27HTT_18923047_ChIP-ChIP_STHdh_Human1.23779527
28IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.16660163
29THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.14596616
30MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.11668280
31RXRA_24833708_ChIP-Seq_LIVER_Mouse1.08267676
32RARG_19884340_ChIP-ChIP_MEFs_Mouse1.07175972
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.00535440
34STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00321195
35FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.99746702
36ESR1_21235772_ChIP-Seq_MCF-7_Human0.98655498
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.96522702
38ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93558608
39ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93553264
40NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.91364757
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91340815
42* GATA6_25053715_ChIP-Seq_YYC3_Human0.91251805
43AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.86475183
44ZNF217_24962896_ChIP-Seq_MCF-7_Human0.85785735
45* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.84674343
46* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.84261552
47BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.84160373
48TP63_17297297_ChIP-ChIP_HaCaT_Human0.84126441
49IRF8_22096565_ChIP-ChIP_GC-B_Human0.83482305
50PCGF2_27294783_Chip-Seq_NPCs_Mouse0.83122156
51SALL4_18804426_ChIP-ChIP_XEN_Mouse0.82310327
52PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.80485504
53ZNF263_19887448_ChIP-Seq_K562_Human0.79351773
54KAP1_22055183_ChIP-Seq_ESCs_Mouse0.78422533
55SOX2_20726797_ChIP-Seq_SW620_Human0.77864261
56CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77617094
57RARA_24833708_ChIP-Seq_LIVER_Mouse0.76395228
58Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76199022
59SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75944291
60PPAR_26484153_Chip-Seq_NCI-H1993_Human0.74648578
61EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.74499161
62RAC3_21632823_ChIP-Seq_H3396_Human0.74155776
63PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.73928066
64BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.73872842
65STAT3_1855785_ChIP-Seq_MESCs_Mouse0.71448552
66SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.71414353
67AUTS2_25519132_ChIP-Seq_293T-REX_Human0.71132710
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.70915352
69CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70804684
70LXR_22292898_ChIP-Seq_THP-1_Human0.70294167
71EGR1_19032775_ChIP-ChIP_M12_Human0.69136139
72FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.69009665
73P63_26484246_Chip-Seq_KERATINOCYTES_Human0.67945997
74* FOXO3_23340844_ChIP-Seq_DLD1_Human0.67453647
75FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.67305251
76RAD21_21589869_ChIP-Seq_MESCs_Mouse0.66711571
77SOX2_21211035_ChIP-Seq_LN229_Human0.65724036
78NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.65512695
79FOXA1_25552417_ChIP-Seq_VCAP_Human0.64933220
80JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.64757905
81SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.64184651
82FOXH1_21741376_ChIP-Seq_ESCs_Human0.61780829
83NRF2_20460467_ChIP-Seq_MEFs_Mouse0.61682874
84NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.61682874
85MYC_19829295_ChIP-Seq_ESCs_Human0.61225251
86ETV2_25802403_ChIP-Seq_MESCs_Mouse0.60551359
87PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.60261736
88DROSHA_22980978_ChIP-Seq_HELA_Human0.59718724
89GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.59554521
90ESR1_20079471_ChIP-ChIP_T-47D_Human0.59324732
91* CEBPB_22108803_ChIP-Seq_LS180_Human0.59034961
92RARB_24833708_ChIP-Seq_LIVER_Mouse0.58998171
93GATA2_19941826_ChIP-Seq_K562_Human0.58819226
94MYC_19915707_ChIP-ChIP_AK7_Human0.58582157
95FOXA1_21572438_ChIP-Seq_LNCaP_Human0.58272810
96TCF4_22108803_ChIP-Seq_LS180_Human0.58073980
97NANOG_20526341_ChIP-Seq_ESCs_Human0.57985243
98RACK7_27058665_Chip-Seq_MCF-7_Human0.57496329
99KLF5_25053715_ChIP-Seq_YYC3_Human0.56853244
100PIAS1_25552417_ChIP-Seq_VCAP_Human0.56827900
101SMAD1_18555785_Chip-Seq_ESCs_Mouse0.56659857
102ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.56607865
103NFE2_27457419_Chip-Seq_LIVER_Mouse0.56390588
104FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.56262570
105PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.56145981
106AR_20517297_ChIP-Seq_VCAP_Human0.56042526
107* ESRRB_18555785_Chip-Seq_ESCs_Mouse0.55992598
108FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.55049818
109* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.54651784
110ESET_19884257_ChIP-Seq_ESCs_Mouse0.50987109
111STAT1_17558387_ChIP-Seq_HELA_Human0.50782057
112ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.50341309
113GATA1_19941826_ChIP-Seq_K562_Human0.49904382
114AR_21909140_ChIP-Seq_LNCAP_Human0.48801814
115GATA3_24758297_ChIP-Seq_MCF-7_Human0.48726777
116CDX2_22108803_ChIP-Seq_LS180_Human0.48398557
117CBP_21632823_ChIP-Seq_H3396_Human0.48026031
118PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.47770472
119* TAF2_19829295_ChIP-Seq_ESCs_Human0.46390309
120EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.46364546
121GATA1_19941827_ChIP-Seq_MEL_Mouse0.46103289
122CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.45853218
123TRIM28_21343339_ChIP-Seq_HEK293_Human0.44785387
124* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.43694068
125GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.43448259
126* P53_21459846_ChIP-Seq_SAOS-2_Human0.42076932
127PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.41949600
128* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.41800672
129BCAT_22108803_ChIP-Seq_LS180_Human0.41008801
130GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.40263018
131CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.40129196

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis8.21734116
2MP0002139_abnormal_hepatobiliary_system7.87235322
3MP0005085_abnormal_gallbladder_physiolo6.09814695
4MP0005365_abnormal_bile_salt5.77052006
5MP0008875_abnormal_xenobiotic_pharmacok4.98011210
6MP0003252_abnormal_bile_duct3.98386035
7MP0003806_abnormal_nucleotide_metabolis3.85463222
8* MP0010329_abnormal_lipoprotein_level3.22770269
9MP0001666_abnormal_nutrient_absorption3.07344558
10MP0005332_abnormal_amino_acid3.06843897
11MP0009840_abnormal_foam_cell3.02751803
12MP0003195_calcinosis2.80965088
13MP0004019_abnormal_vitamin_homeostasis2.73007401
14MP0005083_abnormal_biliary_tract2.64565867
15MP0002138_abnormal_hepatobiliary_system2.25681177
16MP0003191_abnormal_cellular_cholesterol2.24648569
17* MP0000609_abnormal_liver_physiology1.98806645
18* MP0002118_abnormal_lipid_homeostasis1.94834980
19MP0003868_abnormal_feces_composition1.79828913
20MP0005319_abnormal_enzyme/_coenzyme1.79234992
21MP0009643_abnormal_urine_homeostasis1.74747902
22MP0003183_abnormal_peptide_metabolism1.61572047
23MP0001764_abnormal_homeostasis1.57516577
24MP0005584_abnormal_enzyme/coenzyme_acti1.56636104
25MP0000566_synostosis1.52763733
26MP0005451_abnormal_body_composition1.46334567
27MP0003122_maternal_imprinting1.28981575
28* MP0005636_abnormal_mineral_homeostasis1.26422354
29MP0003705_abnormal_hypodermis_morpholog1.23423095
30MP0003186_abnormal_redox_activity1.23058883
31MP0009697_abnormal_copulation1.22641321
32MP0004043_abnormal_pH_regulation1.20873834
33MP0005409_darkened_coat_color1.18442819
34MP0003879_abnormal_hair_cell1.17783295
35MP0009780_abnormal_chondrocyte_physiolo1.11428030
36MP0005084_abnormal_gallbladder_morpholo1.11377885
37MP0010234_abnormal_vibrissa_follicle1.10888574
38MP0003011_delayed_dark_adaptation1.10026529
39* MP0000598_abnormal_liver_morphology1.07117316
40MP0003656_abnormal_erythrocyte_physiolo1.00739550
41MP0001756_abnormal_urination1.00651365
42MP0009764_decreased_sensitivity_to0.97887109
43MP0004264_abnormal_extraembryonic_tissu0.97095636
44MP0002132_abnormal_respiratory_system0.95334689
45MP0002876_abnormal_thyroid_physiology0.91897401
46MP0003866_abnormal_defecation0.90868666
47MP0000604_amyloidosis0.90465007
48MP0002254_reproductive_system_inflammat0.89619012
49MP0001664_abnormal_digestion0.89296524
50* MP0009642_abnormal_blood_homeostasis0.88195852
51MP0002136_abnormal_kidney_physiology0.87439222
52MP0000477_abnormal_intestine_morphology0.87384081
53MP0002089_abnormal_postnatal_growth/wei0.86943013
54MP0005647_abnormal_sex_gland0.86938016
55MP0008469_abnormal_protein_level0.85130054
56MP0009763_increased_sensitivity_to0.83530455
57MP0006036_abnormal_mitochondrial_physio0.82738414
58MP0005408_hypopigmentation0.81961999
59MP0003123_paternal_imprinting0.80327464
60MP0005220_abnormal_exocrine_pancreas0.78644157
61MP0005670_abnormal_white_adipose0.73484279
62MP0002909_abnormal_adrenal_gland0.72778654
63MP0005376_homeostasis/metabolism_phenot0.72535289
64MP0002822_catalepsy0.71428717
65* MP0002078_abnormal_glucose_homeostasis0.70874535
66MP0009765_abnormal_xenobiotic_induced0.70280375
67MP0009053_abnormal_anal_canal0.70175001
68* MP0001765_abnormal_ion_homeostasis0.69715041
69MP0003172_abnormal_lysosome_physiology0.68949487
70MP0003283_abnormal_digestive_organ0.65528695
71MP0002971_abnormal_brown_adipose0.64601498
72MP0005535_abnormal_body_temperature0.62828341
73MP0005266_abnormal_metabolism0.61333275
74MP0010368_abnormal_lymphatic_system0.60442199
75MP0005334_abnormal_fat_pad0.58700090
76MP0000538_abnormal_urinary_bladder0.58173923
77MP0002928_abnormal_bile_duct0.58004590
78MP0000678_abnormal_parathyroid_gland0.57823408
79MP0003300_gastrointestinal_ulcer0.56723307
80MP0002796_impaired_skin_barrier0.56234857
81MP0001661_extended_life_span0.56200724
82MP0005448_abnormal_energy_balance0.55680888
83MP0003638_abnormal_response/metabolism_0.53938356
84MP0010352_gastrointestinal_tract_polyps0.53497737
85MP0003329_amyloid_beta_deposits0.52727666
86MP0006035_abnormal_mitochondrial_morpho0.51651263
87MP0000013_abnormal_adipose_tissue0.51254729
88MP0005666_abnormal_adipose_tissue0.49899950
89MP0005395_other_phenotype0.49787791
90MP0004130_abnormal_muscle_cell0.47974251
91MP0005379_endocrine/exocrine_gland_phen0.46061289
92MP0002098_abnormal_vibrissa_morphology0.45908080
93MP0005166_decreased_susceptibility_to0.45669622
94MP0005058_abnormal_lysosome_morphology0.45665523
95MP0001944_abnormal_pancreas_morphology0.45397712
96MP0000230_abnormal_systemic_arterial0.45144571
97MP0009384_cardiac_valve_regurgitation0.45054237
98MP0008872_abnormal_physiological_respon0.43931367
99MP0003718_maternal_effect0.43545747
100MP0004147_increased_porphyrin_level0.43411498
101MP0008873_increased_physiological_sensi0.42983225
102MP0005464_abnormal_platelet_physiology0.42877324
103MP0003690_abnormal_glial_cell0.42364908
104MP0005167_abnormal_blood-brain_barrier0.42186402
105* MP0003953_abnormal_hormone_level0.41589881
106MP0001485_abnormal_pinna_reflex0.40924346
107MP0002166_altered_tumor_susceptibility0.38817625
108MP0004782_abnormal_surfactant_physiolog0.38125673
109MP0001663_abnormal_digestive_system0.37615537
110MP0001915_intracranial_hemorrhage0.37207364
111MP0002168_other_aberrant_phenotype0.36979090
112MP0005646_abnormal_pituitary_gland0.36835383
113MP0000639_abnormal_adrenal_gland0.36219084
114MP0004270_analgesia0.35286362
115MP0000462_abnormal_digestive_system0.35205419
116MP0002135_abnormal_kidney_morphology0.34726214
117MP0000003_abnormal_adipose_tissue0.34633882
118MP0003567_abnormal_fetal_cardiomyocyte0.34598204
119MP0003724_increased_susceptibility_to0.34188598
120MP0005023_abnormal_wound_healing0.33405631
121MP0003075_altered_response_to0.33277963
122MP0005381_digestive/alimentary_phenotyp0.33246789
123MP0009672_abnormal_birth_weight0.33112461
124MP0008874_decreased_physiological_sensi0.33032127
125MP0001845_abnormal_inflammatory_respons0.33000712
126MP0000249_abnormal_blood_vessel0.32573966
127MP0009115_abnormal_fat_cell0.31472965
128MP0010155_abnormal_intestine_physiology0.30015244
129MP0000579_abnormal_nail_morphology0.29462371
130MP0005248_abnormal_Harderian_gland0.28567704

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.78024438
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.73576874
3Deep venous thrombosis (HP:0002625)6.24813416
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.22819286
5Hypobetalipoproteinemia (HP:0003563)5.90552731
6Xanthomatosis (HP:0000991)5.83960281
7Prolonged partial thromboplastin time (HP:0003645)5.42680406
8Abnormality of glutamine family amino acid metabolism (HP:0010902)5.12403806
9Hyperammonemia (HP:0001987)4.59398519
10Hyperlipoproteinemia (HP:0010980)4.58554417
11Hyperglycinuria (HP:0003108)4.55310711
12Complement deficiency (HP:0004431)4.55296521
13Hyperglycinemia (HP:0002154)4.34763366
14Hypolipoproteinemia (HP:0010981)4.33718515
15Abnormality of aspartate family amino acid metabolism (HP:0010899)4.30907477
16Ketosis (HP:0001946)4.30079978
17Abnormality of serine family amino acid metabolism (HP:0010894)4.28518354
18Abnormality of glycine metabolism (HP:0010895)4.28518354
19Abnormality of sulfur amino acid metabolism (HP:0004339)4.26318018
20Fat malabsorption (HP:0002630)4.11212936
21Epidermoid cyst (HP:0200040)4.05507809
22Joint hemorrhage (HP:0005261)4.00413312
23Hemorrhage of the eye (HP:0011885)4.00036470
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.91043026
25Conjugated hyperbilirubinemia (HP:0002908)3.86301696
26Abnormality of the common coagulation pathway (HP:0010990)3.86192985
27Hypoglycemic coma (HP:0001325)3.77876417
28Abnormality of methionine metabolism (HP:0010901)3.68180264
29Hypoalphalipoproteinemia (HP:0003233)3.62048599
30Gout (HP:0001997)3.58846801
31Abnormality of pyrimidine metabolism (HP:0004353)3.49272161
32Abnormality of fatty-acid metabolism (HP:0004359)3.48794142
33Abnormality of nucleobase metabolism (HP:0010932)3.43454818
34Abnormality of purine metabolism (HP:0004352)3.40546146
35Ketoacidosis (HP:0001993)3.40426068
36Abnormality of complement system (HP:0005339)3.29677523
37Hypercholesterolemia (HP:0003124)3.27230949
38Abnormality of the intrinsic pathway (HP:0010989)3.21403302
39Hyperbilirubinemia (HP:0002904)3.18648086
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.14727454
41Delayed CNS myelination (HP:0002188)3.08823154
42Nephritis (HP:0000123)3.05889076
43Metabolic acidosis (HP:0001942)2.98934781
44Malnutrition (HP:0004395)2.97867972
45Abnormality of serum amino acid levels (HP:0003112)2.91941663
46Hepatocellular carcinoma (HP:0001402)2.88690441
47Steatorrhea (HP:0002570)2.86706548
48Vascular calcification (HP:0004934)2.84851021
49Abnormality of dicarboxylic acid metabolism (HP:0010995)2.78255306
50Dicarboxylic aciduria (HP:0003215)2.78255306
51Alkalosis (HP:0001948)2.76367695
52Acanthocytosis (HP:0001927)2.75538922
53Proximal tubulopathy (HP:0000114)2.75164201
54Lethargy (HP:0001254)2.71657148
55Gingival bleeding (HP:0000225)2.67241403
56Spontaneous abortion (HP:0005268)2.65036590
57Potter facies (HP:0002009)2.64643370
58Facial shape deformation (HP:0011334)2.64643370
59Generalized aminoaciduria (HP:0002909)2.60682303
60Hydroxyprolinuria (HP:0003080)2.59398616
61Abnormality of proline metabolism (HP:0010907)2.59398616
62Increased purine levels (HP:0004368)2.58976570
63Hyperuricemia (HP:0002149)2.58976570
64Pigmentary retinal degeneration (HP:0001146)2.58642606
65Widely patent fontanelles and sutures (HP:0004492)2.55745919
66Flat acetabular roof (HP:0003180)2.54124213
67Cardiovascular calcification (HP:0011915)2.51295380
68Myocardial infarction (HP:0001658)2.50906919
69Osteomalacia (HP:0002749)2.50812637
70Menorrhagia (HP:0000132)2.49704633
71Skin nodule (HP:0200036)2.47056988
72Abnormality of urine glucose concentration (HP:0011016)2.45445876
73Glycosuria (HP:0003076)2.45445876
74Irritability (HP:0000737)2.44677701
75Spastic diplegia (HP:0001264)2.42661736
76Systemic lupus erythematosus (HP:0002725)2.40888140
77Hypoglycemic seizures (HP:0002173)2.38949873
78Hypochromic microcytic anemia (HP:0004840)2.31572534
79Abnormality of vitamin B metabolism (HP:0004340)2.31292138
80Sensorimotor neuropathy (HP:0007141)2.30825690
81Vomiting (HP:0002013)2.28941855
82Neonatal onset (HP:0003623)2.27677517
83Rickets (HP:0002748)2.27596891
84Cholecystitis (HP:0001082)2.27015061
85Abnormal gallbladder physiology (HP:0012438)2.27015061
86Cerebral edema (HP:0002181)2.25997618
87Esophageal varix (HP:0002040)2.25330288
88Abnormality of carpal bone ossification (HP:0006257)2.24948199
89Enlarged kidneys (HP:0000105)2.23694226
90Pancreatitis (HP:0001733)2.23577889
91Abnormality of the vitamin B12 metabolism (HP:0004341)2.19785577
92Abnormal gallbladder morphology (HP:0012437)2.19482306
93Cholelithiasis (HP:0001081)2.15940781
94Purpura (HP:0000979)2.14302652
95Abnormality of the nasal septum (HP:0000419)2.12976107
96Metabolic alkalosis (HP:0200114)2.10491535
97Glomerulonephritis (HP:0000099)2.09240474
98Abnormal enzyme/coenzyme activity (HP:0012379)2.08463700
99Abnormal cartilage morphology (HP:0002763)2.07634192
100Recurrent gram-negative bacterial infections (HP:0005420)2.06373590
101Ileus (HP:0002595)2.04993319
102Nephrolithiasis (HP:0000787)2.04340838
103Abnormal urine phosphate concentration (HP:0012599)2.01711476
104Abnormality of vitamin metabolism (HP:0100508)1.99612659
105Focal segmental glomerulosclerosis (HP:0000097)1.97621856
106Poikilocytosis (HP:0004447)1.97215019
107Confusion (HP:0001289)1.96832411
108Amyloidosis (HP:0011034)1.96814495
109Abdominal distention (HP:0003270)1.96267734
110Mitral stenosis (HP:0001718)1.96220708
111Hyperinsulinemic hypoglycemia (HP:0000825)1.93926011
112Hyperactive renin-angiotensin system (HP:0000841)1.90995563
113Brushfield spots (HP:0001088)1.88924821
114Opisthotonus (HP:0002179)1.87479308
115Abnormality of the gallbladder (HP:0005264)1.87368265
116Decreased circulating renin level (HP:0003351)1.87162656
117Abnormality of alkaline phosphatase activity (HP:0004379)1.86273440
118Megaloblastic anemia (HP:0001889)1.86136382
119Hypophosphatemic rickets (HP:0004912)1.84279654
120Thrombophlebitis (HP:0004418)1.84147631
121Abnormal tarsal ossification (HP:0008369)1.84068203
122Hyperphosphaturia (HP:0003109)1.83363783
123Hypophosphatemia (HP:0002148)1.80994943
124Hypotension (HP:0002615)1.80877258
125Glomerulosclerosis (HP:0000096)1.80258959
126Hypothermia (HP:0002045)1.79957078
127Abnormality of renin-angiotensin system (HP:0000847)1.78108137
128Vaginal fistula (HP:0004320)1.74667133
129Abnormal hand bone ossification (HP:0010660)1.71647682
130Arthropathy (HP:0003040)1.71070566

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.16365098
2ACVR1B4.75949591
3ERN14.00745218
4FGFR43.90657826
5TAOK33.71492687
6MST1R3.46646484
7SIK13.30462545
8FRK2.83761846
9ERBB42.67105689
10INSRR2.56043919
11WNK42.50405100
12WNK32.18219427
13PTK61.90741918
14OXSR11.89009287
15PKN21.83801475
16LATS11.78943111
17GRK61.75345656
18AKT31.65776079
19MAP2K41.62015082
20STK38L1.58513071
21TRIB31.54985722
22FLT31.45858764
23RIPK11.42447165
24PIK3CG1.41746029
25MAP3K71.33931624
26MET1.30197813
27TYK21.27232449
28MAP3K101.23575860
29ABL21.23165150
30MAP3K31.16779163
31NEK91.15351692
32ERBB21.14160680
33MAP2K21.14128875
34STK241.06012600
35TBK11.05712440
36EPHB11.00313171
37FGFR10.98816420
38PTK20.97505672
39JAK20.96601208
40LMTK20.96185430
41KDR0.94966646
42DDR20.90586673
43MAP3K110.89482799
44EPHA40.88394505
45PRKG20.87952576
46NLK0.86644012
47MAP3K140.84114157
48DAPK20.84079284
49EPHB20.84035313
50MAP2K30.83949342
51DYRK1B0.83165559
52EPHA20.81437068
53GSK3A0.81023053
54MAPKAPK30.79960806
55MAP2K60.79667146
56RET0.79468756
57FGFR20.78721895
58MAP3K20.78393768
59PRKCZ0.76332593
60STK390.76313204
61CASK0.76087849
62PDK40.75242870
63PDK30.75242870
64MAPK150.73321983
65MAPK40.71650614
66PINK10.70864241
67SGK30.69753537
68PDPK10.67268941
69JAK10.66612797
70CDK60.66294188
71MAP3K120.65359932
72TNIK0.65246278
73MAP2K10.64188790
74CAMK2G0.63887298
75CDC42BPA0.63276820
76PIK3CA0.62197348
77IRAK30.61783204
78SGK2230.61345420
79SGK4940.61345420
80PDGFRA0.59475740
81CSK0.59199274
82NEK10.57830863
83* PRKACG0.56130697
84WNK10.53230679
85* MAPK110.51514385
86TYRO30.51130512
87TIE10.48899554
88* PRKAA20.47526826
89MYLK0.46374485
90NTRK30.46261153
91MELK0.46229132
92MAP3K10.44949552
93PBK0.44224520
94CDK120.44013816
95SGK10.43906861
96CSF1R0.43792000
97PDK20.43779987
98TGFBR20.43215501
99SGK20.42681017
100MATK0.42649759
101NUAK10.42285472
102GRK10.42025014
103IKBKE0.41906431
104ICK0.41247014
105* PRKAA10.41051163
106PRKCQ0.40631329
107PHKG20.40547301
108PHKG10.40547301
109MAP4K20.40234018
110EPHA30.39936401
111PDK10.39621501
112CAMK2D0.39302944
113MAPK120.38588626
114RPS6KB10.38492663
115CSNK1A10.37784945
116BRSK20.36981420
117MST40.36723654
118PRKCI0.35597277
119FER0.34790325
120* SRC0.33850085
121PAK30.33785241
122FGFR30.33449964
123IGF1R0.32982598
124BMPR1B0.32614332
125TLK10.32585487
126EEF2K0.32396576
127CAMK1D0.32340583
128CSNK1E0.31262602
129BMX0.30793647
130PRKCA0.30748618
131MAP3K50.30654558
132PRKG10.30285590
133PRKACA0.30123734
134TAOK10.29411327
135STK30.28774204
136MTOR0.28510261
137PRKCE0.27882185
138LRRK20.27862051
139MAP3K130.27772586
140PRKCG0.27181473
141SMG10.26505489
142BCR0.24583958
143CDK90.22842789

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.99172072
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.49641197
3Nitrogen metabolism_Homo sapiens_hsa009103.45259438
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.11504423
5Arginine biosynthesis_Homo sapiens_hsa002202.90460659
6Tryptophan metabolism_Homo sapiens_hsa003802.72698251
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.68976529
8Fatty acid degradation_Homo sapiens_hsa000712.53167387
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.47114568
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.43911045
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.42832189
12Pentose and glucuronate interconversions_Homo sapiens_hsa000402.42271763
13Butanoate metabolism_Homo sapiens_hsa006502.32918619
14Complement and coagulation cascades_Homo sapiens_hsa046102.31389221
15Peroxisome_Homo sapiens_hsa041462.09195113
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.03485793
17Propanoate metabolism_Homo sapiens_hsa006402.02351614
18Histidine metabolism_Homo sapiens_hsa003401.95230859
19PPAR signaling pathway_Homo sapiens_hsa033201.86198498
20Sulfur metabolism_Homo sapiens_hsa009201.79353790
21Chemical carcinogenesis_Homo sapiens_hsa052041.78460910
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.78040358
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.76846676
24Fatty acid metabolism_Homo sapiens_hsa012121.76813818
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.76108901
26beta-Alanine metabolism_Homo sapiens_hsa004101.75184900
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.72808872
28Bile secretion_Homo sapiens_hsa049761.71039746
29Caffeine metabolism_Homo sapiens_hsa002321.67561407
30Drug metabolism - other enzymes_Homo sapiens_hsa009831.63942609
31Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.62866034
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.60494239
33Selenocompound metabolism_Homo sapiens_hsa004501.56742166
34Retinol metabolism_Homo sapiens_hsa008301.55582052
35Pyruvate metabolism_Homo sapiens_hsa006201.53183417
36Fat digestion and absorption_Homo sapiens_hsa049751.50912305
37Phenylalanine metabolism_Homo sapiens_hsa003601.46494502
38Starch and sucrose metabolism_Homo sapiens_hsa005001.43700055
39Cyanoamino acid metabolism_Homo sapiens_hsa004601.41207723
40Staphylococcus aureus infection_Homo sapiens_hsa051501.37181638
41Folate biosynthesis_Homo sapiens_hsa007901.35832561
42Vitamin digestion and absorption_Homo sapiens_hsa049771.33146951
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31635805
44Carbon metabolism_Homo sapiens_hsa012001.26048836
45Tyrosine metabolism_Homo sapiens_hsa003501.25067574
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.23915492
47Biosynthesis of amino acids_Homo sapiens_hsa012301.21325694
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.17763912
49Fatty acid elongation_Homo sapiens_hsa000621.16799165
50ABC transporters_Homo sapiens_hsa020101.14151335
51Steroid biosynthesis_Homo sapiens_hsa001001.13123810
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.10621149
53Arginine and proline metabolism_Homo sapiens_hsa003301.08624117
54* Maturity onset diabetes of the young_Homo sapiens_hsa049501.00166664
55Glutathione metabolism_Homo sapiens_hsa004800.90220790
56Sulfur relay system_Homo sapiens_hsa041220.88611501
57Lysine degradation_Homo sapiens_hsa003100.87465642
58Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.86328292
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.85949506
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85324257
61Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.82603683
62Glycerolipid metabolism_Homo sapiens_hsa005610.82446574
63Pentose phosphate pathway_Homo sapiens_hsa000300.70003815
64Vitamin B6 metabolism_Homo sapiens_hsa007500.69094078
65Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.68402558
66One carbon pool by folate_Homo sapiens_hsa006700.58394512
67Fructose and mannose metabolism_Homo sapiens_hsa000510.54857533
68Metabolic pathways_Homo sapiens_hsa011000.49692898
69Galactose metabolism_Homo sapiens_hsa000520.47878509
70Sphingolipid metabolism_Homo sapiens_hsa006000.45709618
71Ether lipid metabolism_Homo sapiens_hsa005650.37006657
72Fatty acid biosynthesis_Homo sapiens_hsa000610.37003138
73Mineral absorption_Homo sapiens_hsa049780.32004491
74alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.30699589
75Renin-angiotensin system_Homo sapiens_hsa046140.27478904
76Pancreatic secretion_Homo sapiens_hsa049720.25856098
77Pertussis_Homo sapiens_hsa051330.22308122
78Insulin resistance_Homo sapiens_hsa049310.21389044
79Linoleic acid metabolism_Homo sapiens_hsa005910.19135068
80Adipocytokine signaling pathway_Homo sapiens_hsa049200.17939162
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.17332081
82Prion diseases_Homo sapiens_hsa050200.16818222
83N-Glycan biosynthesis_Homo sapiens_hsa005100.16631534
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.14466062
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.10252888
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.09995698
87Protein digestion and absorption_Homo sapiens_hsa049740.09899632
88Glucagon signaling pathway_Homo sapiens_hsa049220.04063389
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.00448551
90Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1932982
91African trypanosomiasis_Homo sapiens_hsa05143-0.1885509
92Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1703038
93Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1646510
94Other glycan degradation_Homo sapiens_hsa00511-0.1628967
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1583794
96Bladder cancer_Homo sapiens_hsa05219-0.1518737
97Insulin signaling pathway_Homo sapiens_hsa04910-0.1388022
98Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.1385828
99Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1291036
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512-0.1248858
101Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1125326
102Hepatitis C_Homo sapiens_hsa05160-0.0902040
103Insulin secretion_Homo sapiens_hsa04911-0.0596227
104Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0568730
105* AMPK signaling pathway_Homo sapiens_hsa04152-0.0533362
106Tight junction_Homo sapiens_hsa04530-0.0242381
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0228206
108Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0197726

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