F9

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 vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epoxygenase P450 pathway (GO:0019373)9.67444591
2L-phenylalanine catabolic process (GO:0006559)7.62774036
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.62774036
4L-phenylalanine metabolic process (GO:0006558)7.26301955
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.26301955
6aromatic amino acid family catabolic process (GO:0009074)6.94460292
7drug metabolic process (GO:0017144)6.65414003
8oxidative demethylation (GO:0070989)6.59434937
9indole-containing compound catabolic process (GO:0042436)6.33152126
10indolalkylamine catabolic process (GO:0046218)6.33152126
11tryptophan catabolic process (GO:0006569)6.33152126
12triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.31751085
13kynurenine metabolic process (GO:0070189)6.16614790
14bile acid biosynthetic process (GO:0006699)6.04095442
15tryptophan metabolic process (GO:0006568)5.94074576
16glyoxylate metabolic process (GO:0046487)5.72862253
17urea metabolic process (GO:0019627)5.72419105
18urea cycle (GO:0000050)5.72419105
19negative regulation of fibrinolysis (GO:0051918)5.64450079
20alpha-linolenic acid metabolic process (GO:0036109)5.56599668
21high-density lipoprotein particle remodeling (GO:0034375)5.56584711
22ethanol metabolic process (GO:0006067)5.51288809
23complement activation, alternative pathway (GO:0006957)5.49205508
24regulation of fibrinolysis (GO:0051917)5.48848930
25regulation of protein activation cascade (GO:2000257)5.43994935
26cysteine metabolic process (GO:0006534)5.29434646
27nitrogen cycle metabolic process (GO:0071941)5.26894551
28sulfur amino acid catabolic process (GO:0000098)5.24334543
29bile acid metabolic process (GO:0008206)5.15549088
30killing of cells in other organism involved in symbiotic interaction (GO:0051883)5.11436683
31disruption of cells of other organism involved in symbiotic interaction (GO:0051818)5.11436683
32phenylpropanoid metabolic process (GO:0009698)5.10600892
33regulation of plasminogen activation (GO:0010755)5.10509764
34serine family amino acid catabolic process (GO:0009071)5.08504814
35regulation of complement activation (GO:0030449)5.07990841
36regulation of humoral immune response (GO:0002920)5.03794107
37aromatic amino acid family metabolic process (GO:0009072)5.03322478
38* peptidyl-glutamic acid carboxylation (GO:0017187)4.99611000
39* protein carboxylation (GO:0018214)4.99611000
40regulation of cholesterol esterification (GO:0010872)4.87980661
41fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.87933307
42S-adenosylmethionine metabolic process (GO:0046500)4.85097040
43tyrosine metabolic process (GO:0006570)4.84741281
44regulation of triglyceride catabolic process (GO:0010896)4.84526532
45reverse cholesterol transport (GO:0043691)4.83356930
46negative regulation of protein activation cascade (GO:2000258)4.81427832
47homocysteine metabolic process (GO:0050667)4.77568629
48plasma lipoprotein particle remodeling (GO:0034369)4.76933404
49protein-lipid complex remodeling (GO:0034368)4.76933404
50macromolecular complex remodeling (GO:0034367)4.76933404
51negative regulation of hemostasis (GO:1900047)4.76473797
52negative regulation of blood coagulation (GO:0030195)4.76473797
53positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.68782288
54alpha-amino acid catabolic process (GO:1901606)4.65978578
55acylglycerol homeostasis (GO:0055090)4.61777385
56triglyceride homeostasis (GO:0070328)4.61777385
57amino-acid betaine metabolic process (GO:0006577)4.60216380
58phospholipid efflux (GO:0033700)4.58769926
59negative regulation of cholesterol transport (GO:0032375)4.55600546
60negative regulation of sterol transport (GO:0032372)4.55600546
61lysine metabolic process (GO:0006553)4.53491595
62lysine catabolic process (GO:0006554)4.53491595
63indolalkylamine metabolic process (GO:0006586)4.48156285
64bile acid and bile salt transport (GO:0015721)4.46099148
65coenzyme catabolic process (GO:0009109)4.45068150
66cellular biogenic amine catabolic process (GO:0042402)4.42068029
67amine catabolic process (GO:0009310)4.42068029
68cellular ketone body metabolic process (GO:0046950)4.38514300
69glycine metabolic process (GO:0006544)4.36266204
70plasma lipoprotein particle clearance (GO:0034381)4.34952623
71imidazole-containing compound metabolic process (GO:0052803)4.34071439
72cellular glucuronidation (GO:0052695)4.33261517
73negative regulation of coagulation (GO:0050819)4.32300929
74negative regulation of wound healing (GO:0061045)4.28880014
75cellular amino acid catabolic process (GO:0009063)4.27052010
76alkaloid metabolic process (GO:0009820)4.24881886
77cholesterol efflux (GO:0033344)4.23593180
78glutamate metabolic process (GO:0006536)4.22893227
79benzene-containing compound metabolic process (GO:0042537)4.18837031
80serine family amino acid metabolic process (GO:0009069)4.13648154
81dicarboxylic acid biosynthetic process (GO:0043650)4.09455247
82fibrinolysis (GO:0042730)4.08479365
83ethanol oxidation (GO:0006069)4.07663906
84positive regulation of hemostasis (GO:1900048)4.05534445
85positive regulation of blood coagulation (GO:0030194)4.05534445
86arginine metabolic process (GO:0006525)4.03642052
87cellular modified amino acid catabolic process (GO:0042219)4.02300325
88aldehyde catabolic process (GO:0046185)4.01660930
89low-density lipoprotein particle remodeling (GO:0034374)4.01543635
90hormone catabolic process (GO:0042447)4.00691509
91drug catabolic process (GO:0042737)3.98761228
92plasma lipoprotein particle assembly (GO:0034377)3.96489990
93serine family amino acid biosynthetic process (GO:0009070)3.94404137
94flavonoid metabolic process (GO:0009812)3.87452497
95complement activation, classical pathway (GO:0006958)3.86973217
96uronic acid metabolic process (GO:0006063)3.86501786
97glucuronate metabolic process (GO:0019585)3.86501786
98cofactor catabolic process (GO:0051187)3.84838777
99complement activation (GO:0006956)3.82783140
100negative regulation of lipase activity (GO:0060192)3.79535310
101ketone body metabolic process (GO:1902224)3.79527483
102negative regulation of complement activation (GO:0045916)3.78939881
103cytolysis (GO:0019835)3.77534840
104very-low-density lipoprotein particle assembly (GO:0034379)3.77249279
105positive regulation of lipoprotein lipase activity (GO:0051006)3.76794659
106positive regulation of triglyceride lipase activity (GO:0061365)3.76794659
107regulation of bile acid biosynthetic process (GO:0070857)3.76716554
108positive regulation of lipid catabolic process (GO:0050996)3.74908724
109positive regulation of coagulation (GO:0050820)3.73034994
110organic acid catabolic process (GO:0016054)3.72990224
111carboxylic acid catabolic process (GO:0046395)3.72990224
112phospholipid homeostasis (GO:0055091)3.72987630
113fat-soluble vitamin biosynthetic process (GO:0042362)3.72734499
114response to mercury ion (GO:0046689)3.71862911
115cholesterol homeostasis (GO:0042632)3.71663590
116* protein activation cascade (GO:0072376)3.70792543
117acetyl-CoA metabolic process (GO:0006084)3.70540223
118short-chain fatty acid metabolic process (GO:0046459)3.66612152
119sterol homeostasis (GO:0055092)3.65519867
120opsonization (GO:0008228)3.64772207
121intestinal cholesterol absorption (GO:0030299)3.64619430
122sodium-independent organic anion transport (GO:0043252)3.64230200
123acute inflammatory response (GO:0002526)3.62699786
124xenobiotic metabolic process (GO:0006805)3.61498006
125NAD biosynthetic process (GO:0009435)3.61470055
126plasma lipoprotein particle organization (GO:0071827)3.60810221
127acute-phase response (GO:0006953)3.57443381
128* blood coagulation, intrinsic pathway (GO:0007597)3.56729131
129heme transport (GO:0015886)3.56707974
130nicotinamide nucleotide biosynthetic process (GO:0019359)3.55408350
131regulation of acute inflammatory response (GO:0002673)3.50294941
132exogenous drug catabolic process (GO:0042738)10.9187360
133omega-hydroxylase P450 pathway (GO:0097267)10.0056989

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.31220960
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.13776627
3PPARA_22158963_ChIP-Seq_LIVER_Mouse7.08922713
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.46103278
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.28495489
6* CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.02900258
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.63141720
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.05626208
9* CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.89495295
10TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.04850186
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8797603
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.87693666
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.81221848
14HTT_18923047_ChIP-ChIP_STHdh_Human1.66338026
15FOXA2_19822575_ChIP-Seq_HepG2_Human1.59065296
16CLOCK_20551151_ChIP-Seq_293T_Human1.38552880
17HNF4A_19822575_ChIP-Seq_HepG2_Human1.38071222
18GATA1_22025678_ChIP-Seq_K562_Human1.26946644
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24147901
20STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17453524
21RXRA_24833708_ChIP-Seq_LIVER_Mouse1.16669809
22STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06352880
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.06118482
24TRIM28_21343339_ChIP-Seq_HEK293_Human1.04461456
25PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.98532513
26ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97953949
27ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97583329
28HNFA_21074721_ChIP-Seq_CACO-2_Human0.94624121
29CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.93831149
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.91477056
31PHF8_20622853_ChIP-Seq_HELA_Human0.89498358
32AUTS2_25519132_ChIP-Seq_293T-REX_Human0.85754726
33SOX2_27498859_Chip-Seq_STOMACH_Mouse0.85440811
34PIAS1_25552417_ChIP-Seq_VCAP_Human0.84445313
35IRF8_22096565_ChIP-ChIP_GC-B_Human0.84115587
36PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.83278093
37NFYA_21822215_ChIP-Seq_K562_Human0.82086945
38NFE2_27457419_Chip-Seq_LIVER_Mouse0.81796643
39TP53_18474530_ChIP-ChIP_U2OS_Human0.81327015
40BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80747021
41KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80648448
42Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.78727247
43GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.77771183
44TAF15_26573619_Chip-Seq_HEK293_Human0.77692175
45MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77691427
46ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77494618
47GATA4_25053715_ChIP-Seq_YYC3_Human0.76605597
48FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76516702
49NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.72705594
50NRF2_20460467_ChIP-Seq_MEFs_Mouse0.72705594
51GATA6_21074721_ChIP-Seq_CACO-2_Human0.71897549
52POU3F2_20337985_ChIP-ChIP_501MEL_Human0.71471417
53ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.70908248
54RARG_19884340_ChIP-ChIP_MEFs_Mouse0.70182391
55SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69783607
56RARA_24833708_ChIP-Seq_LIVER_Mouse0.69061975
57SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.66446426
58CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.66200862
59SALL4_18804426_ChIP-ChIP_XEN_Mouse0.65912200
60SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.65798266
61* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.64982465
62CBX2_22325352_ChIP-Seq_293T-Rex_Human0.64916862
63NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.64660391
64E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.64490723
65SOX2_21211035_ChIP-Seq_LN229_Human0.64235184
66ESR2_21235772_ChIP-Seq_MCF-7_Human0.63524035
67RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.62919530
68RAD21_21589869_ChIP-Seq_MESCs_Mouse0.61705054
69ER_23166858_ChIP-Seq_MCF-7_Human0.61557904
70BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60224305
71ETV1_20927104_ChIP-Seq_GIST48_Human0.60010941
72ETV2_25802403_ChIP-Seq_MESCs_Mouse0.59755484
73RARB_24833708_ChIP-Seq_LIVER_Mouse0.59063913
74SUZ12_27294783_Chip-Seq_NPCs_Mouse0.58274249
75NFYB_21822215_ChIP-Seq_K562_Human0.58167250
76CEBPB_22108803_ChIP-Seq_LS180_Human0.57149315
77EGR1_19032775_ChIP-ChIP_M12_Human0.56515759
78GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.55930000
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.55768752
80PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.55499806
81OCT4_18555785_Chip-Seq_ESCs_Mouse0.54159897
82AR_20517297_ChIP-Seq_VCAP_Human0.54123198
83ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53752642
84GATA6_25053715_ChIP-Seq_YYC3_Human0.53576499
85FOXA1_25552417_ChIP-Seq_VCAP_Human0.52999227
86NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.52783151
87PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.52778885
88STAT1_17558387_ChIP-Seq_HELA_Human0.52717689
89RAC3_21632823_ChIP-Seq_H3396_Human0.52582520
90SPI1_20517297_ChIP-Seq_HL60_Human0.52360803
91MYC_19915707_ChIP-ChIP_AK7_Human0.51904873
92CBP_21632823_ChIP-Seq_H3396_Human0.51804623
93ERG_20517297_ChIP-Seq_VCAP_Human0.51776080
94FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.51220601
95CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.50815413
96ESET_19884257_ChIP-Seq_ESCs_Mouse0.50713209
97ZNF263_19887448_ChIP-Seq_K562_Human0.50212908
98TCF4_18268006_ChIP-ChIP_LS174T_Human0.49879312
99KLF5_20875108_ChIP-Seq_MESCs_Mouse0.49178249
100NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.48775097
101FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.48466291
102BCAT_22108803_ChIP-Seq_LS180_Human0.48195608
103MYC_19829295_ChIP-Seq_ESCs_Human0.48138769
104SMAD1_18555785_Chip-Seq_ESCs_Mouse0.47783199
105ESRRB_18555785_Chip-Seq_ESCs_Mouse0.47346406
106P53_21459846_ChIP-Seq_SAOS-2_Human0.46796181
107EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.46450824
108CDX2_20551321_ChIP-Seq_CACO-2_Human0.46061787
109PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.46038204
110PCGF2_27294783_Chip-Seq_NPCs_Mouse0.45844811
111RUNX1_27457419_Chip-Seq_LIVER_Mouse0.45668368
112RBPJ_21746931_ChIP-Seq_IB4_Human0.45591632
113SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.45264277
114PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44952657
115IRF1_19129219_ChIP-ChIP_H3396_Human0.43378696
116ESR1_20079471_ChIP-ChIP_T-47D_Human0.41998184
117ESR1_21235772_ChIP-Seq_MCF-7_Human0.41340738
118LXR_22292898_ChIP-Seq_THP-1_Human0.41060554
119ERG_21242973_ChIP-ChIP_JURKAT_Human0.40972777
120TAF2_19829295_ChIP-Seq_ESCs_Human0.40875904
121EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.40461024
122BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.39766569
123OCT4_21477851_ChIP-Seq_ESCs_Mouse0.38667776
124SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38576557
125CRX_20693478_ChIP-Seq_RETINA_Mouse0.38526354
126STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.38396809
127CDX2_22108803_ChIP-Seq_LS180_Human0.37923623
128FOXH1_21741376_ChIP-Seq_EPCs_Human0.37441247
129PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.37373138
130NCOR_22424771_ChIP-Seq_293T_Human0.37334636
131MYC_27129775_Chip-Seq_CORNEA_Mouse0.37315334
132FOXO3_23340844_ChIP-Seq_DLD1_Human0.36890033
133EZH2_27294783_Chip-Seq_NPCs_Mouse0.36606797
134STAT3_1855785_ChIP-Seq_MESCs_Mouse0.36405306
135GATA2_19941826_ChIP-Seq_K562_Human0.36168855
136PPAR_26484153_Chip-Seq_NCI-H1993_Human0.36045836
137FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.36006059
138LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.35641594

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.36820764
2MP0005360_urolithiasis7.57144400
3MP0005085_abnormal_gallbladder_physiolo6.51647824
4MP0005365_abnormal_bile_salt6.20587855
5MP0008875_abnormal_xenobiotic_pharmacok5.21157227
6MP0003806_abnormal_nucleotide_metabolis4.24907696
7MP0003252_abnormal_bile_duct3.93176443
8MP0010329_abnormal_lipoprotein_level3.57258548
9MP0009840_abnormal_foam_cell3.23903684
10MP0005083_abnormal_biliary_tract3.04034425
11MP0003195_calcinosis2.82088813
12MP0005332_abnormal_amino_acid2.74068617
13MP0001666_abnormal_nutrient_absorption2.58346861
14MP0003191_abnormal_cellular_cholesterol2.30774505
15MP0000609_abnormal_liver_physiology2.14418382
16MP0004019_abnormal_vitamin_homeostasis2.13943472
17MP0002118_abnormal_lipid_homeostasis2.09846838
18MP0002138_abnormal_hepatobiliary_system2.00600939
19MP0003868_abnormal_feces_composition1.96054320
20MP0005319_abnormal_enzyme/_coenzyme1.80776364
21MP0001764_abnormal_homeostasis1.67363709
22MP0009697_abnormal_copulation1.63408689
23MP0005584_abnormal_enzyme/coenzyme_acti1.55602391
24MP0005451_abnormal_body_composition1.46923049
25MP0003011_delayed_dark_adaptation1.41347231
26MP0003186_abnormal_redox_activity1.22761248
27MP0003656_abnormal_erythrocyte_physiolo1.20457457
28MP0009643_abnormal_urine_homeostasis1.19343947
29MP0005647_abnormal_sex_gland1.16547771
30MP0000598_abnormal_liver_morphology1.14080668
31MP0009764_decreased_sensitivity_to1.09179930
32MP0000604_amyloidosis1.08531882
33MP0002254_reproductive_system_inflammat1.01951579
34MP0003705_abnormal_hypodermis_morpholog1.00494310
35* MP0009763_increased_sensitivity_to0.97923258
36MP0010368_abnormal_lymphatic_system0.93720206
37MP0008469_abnormal_protein_level0.90583205
38MP0005636_abnormal_mineral_homeostasis0.90541740
39MP0009642_abnormal_blood_homeostasis0.86784409
40MP0002282_abnormal_trachea_morphology0.84293792
41MP0002876_abnormal_thyroid_physiology0.83921581
42MP0005408_hypopigmentation0.82448737
43MP0005670_abnormal_white_adipose0.82145925
44MP0001915_intracranial_hemorrhage0.81478753
45MP0009765_abnormal_xenobiotic_induced0.79255167
46MP0005084_abnormal_gallbladder_morpholo0.78867389
47MP0005376_homeostasis/metabolism_phenot0.78857769
48MP0006036_abnormal_mitochondrial_physio0.78434850
49MP0002078_abnormal_glucose_homeostasis0.75976639
50MP0005187_abnormal_penis_morphology0.74854728
51MP0003690_abnormal_glial_cell0.74106026
52MP0001661_extended_life_span0.71656051
53MP0002971_abnormal_brown_adipose0.71197349
54MP0005220_abnormal_exocrine_pancreas0.69819162
55MP0005535_abnormal_body_temperature0.69553622
56MP0004130_abnormal_muscle_cell0.67678108
57MP0005334_abnormal_fat_pad0.67561269
58MP0003329_amyloid_beta_deposits0.63036459
59MP0005023_abnormal_wound_healing0.62691828
60MP0005266_abnormal_metabolism0.62505348
61MP0009053_abnormal_anal_canal0.62257662
62MP0002249_abnormal_larynx_morphology0.62145746
63MP0000639_abnormal_adrenal_gland0.60204952
64MP0003879_abnormal_hair_cell0.56585191
65MP0006035_abnormal_mitochondrial_morpho0.54723574
66MP0005448_abnormal_energy_balance0.54590271
67MP0009785_altered_susceptibility_to0.54071345
68MP0001756_abnormal_urination0.53388584
69MP0005464_abnormal_platelet_physiology0.51849722
70MP0002822_catalepsy0.50744461
71MP0004381_abnormal_hair_follicle0.50439170
72MP0008874_decreased_physiological_sensi0.49513936
73MP0003724_increased_susceptibility_to0.47928764
74MP0005395_other_phenotype0.47917955
75MP0003718_maternal_effect0.46661998
76MP0003638_abnormal_response/metabolism_0.46404376
77MP0002928_abnormal_bile_duct0.44792269
78MP0004782_abnormal_surfactant_physiolog0.44375329
79MP0008873_increased_physiological_sensi0.43698399
80MP0005248_abnormal_Harderian_gland0.43314571
81MP0002332_abnormal_exercise_endurance0.42936917
82MP0003436_decreased_susceptibility_to0.42868497
83MP0002136_abnormal_kidney_physiology0.42436782
84MP0003953_abnormal_hormone_level0.39601830
85MP0002837_dystrophic_cardiac_calcinosis0.39415679
86MP0008872_abnormal_physiological_respon0.39085011
87MP0003075_altered_response_to0.38456617
88MP0000579_abnormal_nail_morphology0.37864019
89MP0005166_decreased_susceptibility_to0.37480339
90MP0006082_CNS_inflammation0.35403792
91MP0005666_abnormal_adipose_tissue0.32740165
92MP0000467_abnormal_esophagus_morphology0.32379336
93MP0001545_abnormal_hematopoietic_system0.31605541
94MP0005397_hematopoietic_system_phenotyp0.31605541
95MP0009115_abnormal_fat_cell0.31170415
96MP0009384_cardiac_valve_regurgitation0.31100686
97MP0001853_heart_inflammation0.31068027
98MP0009672_abnormal_birth_weight0.30874827
99MP0000230_abnormal_systemic_arterial0.30814769
100MP0002796_impaired_skin_barrier0.30654671
101MP0000249_abnormal_blood_vessel0.30560902
102MP0004883_abnormal_blood_vessel0.29534211
103MP0002168_other_aberrant_phenotype0.29069795
104MP0000566_synostosis0.29049722
105MP0001851_eye_inflammation0.28892252
106MP0001881_abnormal_mammary_gland0.28124676
107MP0001243_abnormal_dermal_layer0.27922329
108MP0001845_abnormal_inflammatory_respons0.27328214
109MP0002970_abnormal_white_adipose0.26382855
110MP0002090_abnormal_vision0.25803048
111MP0002132_abnormal_respiratory_system0.25278694
112MP0005164_abnormal_response_to0.24987761
113MP0000427_abnormal_hair_cycle0.23751797
114MP0003959_abnormal_lean_body0.22482747
115MP0004142_abnormal_muscle_tone0.19828107
116MP0005197_abnormal_uvea_morphology0.18298671
117MP0001944_abnormal_pancreas_morphology0.17285618
118MP0005058_abnormal_lysosome_morphology0.17239808
119MP0003633_abnormal_nervous_system0.16521221
120MP0003632_abnormal_nervous_system0.16432388

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.47052897
2Intrahepatic cholestasis (HP:0001406)7.45404916
3* Deep venous thrombosis (HP:0002625)6.99311374
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.76094428
5Hypobetalipoproteinemia (HP:0003563)6.54659269
6Xanthomatosis (HP:0000991)6.31799709
7* Prolonged partial thromboplastin time (HP:0003645)6.29837763
8Hyperlipoproteinemia (HP:0010980)5.69197907
9Complement deficiency (HP:0004431)5.65119167
10Hypolipoproteinemia (HP:0010981)4.84828131
11Hyperammonemia (HP:0001987)4.60858458
12Epidermoid cyst (HP:0200040)4.60706971
13Abnormality of the common coagulation pathway (HP:0010990)4.56996436
14Hyperglycinemia (HP:0002154)4.45819948
15Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.45327970
16Abnormality of methionine metabolism (HP:0010901)4.35017272
17Abnormality of sulfur amino acid metabolism (HP:0004339)4.26816054
18* Joint hemorrhage (HP:0005261)4.23833604
19Ketosis (HP:0001946)4.23268193
20Fat malabsorption (HP:0002630)4.22758602
21Hypoalphalipoproteinemia (HP:0003233)4.18991014
22Abnormality of aspartate family amino acid metabolism (HP:0010899)4.18358279
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.15586333
24Abnormality of complement system (HP:0005339)4.11102318
25Abnormality of pyrimidine metabolism (HP:0004353)3.93631683
26Abnormality of serine family amino acid metabolism (HP:0010894)3.90031128
27Abnormality of glycine metabolism (HP:0010895)3.90031128
28Hyperglycinuria (HP:0003108)3.89488422
29Conjugated hyperbilirubinemia (HP:0002908)3.86232686
30Hypoglycemic coma (HP:0001325)3.77440097
31Hypercholesterolemia (HP:0003124)3.65228492
32Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.34475362
33Hyperbilirubinemia (HP:0002904)3.34276823
34Abnormality of fatty-acid metabolism (HP:0004359)3.27517697
35Steatorrhea (HP:0002570)3.22153092
36Spontaneous abortion (HP:0005268)3.16825128
37* Abnormality of the intrinsic pathway (HP:0010989)3.15058087
38Abnormality of serum amino acid levels (HP:0003112)3.11626927
39Delayed CNS myelination (HP:0002188)3.08615789
40Abnormality of nucleobase metabolism (HP:0010932)3.06916482
41Hypochromic microcytic anemia (HP:0004840)3.01642677
42Ketoacidosis (HP:0001993)2.97482284
43Myocardial infarction (HP:0001658)2.97292535
44Hepatocellular carcinoma (HP:0001402)2.95267798
45Osteomalacia (HP:0002749)2.93422527
46Neonatal hypoglycemia (HP:0001998)2.88020244
47Systemic lupus erythematosus (HP:0002725)2.84857361
48Skin nodule (HP:0200036)2.82874214
49Metabolic acidosis (HP:0001942)2.74844613
50Fair hair (HP:0002286)2.68802803
51Abnormality of purine metabolism (HP:0004352)2.63558882
52Lethargy (HP:0001254)2.63070490
53Vascular calcification (HP:0004934)2.61974517
54Glomerulonephritis (HP:0000099)2.58984311
55Acanthocytosis (HP:0001927)2.56398019
56Recurrent gram-negative bacterial infections (HP:0005420)2.54749244
57Abnormality of dicarboxylic acid metabolism (HP:0010995)2.51370846
58Dicarboxylic aciduria (HP:0003215)2.51370846
59Cerebral edema (HP:0002181)2.48727327
60Abnormal gallbladder morphology (HP:0012437)2.48260668
61Hypoglycemic seizures (HP:0002173)2.46428257
62Spastic diplegia (HP:0001264)2.44836968
63Mitral stenosis (HP:0001718)2.44625592
64Purpura (HP:0000979)2.42251675
65Cholelithiasis (HP:0001081)2.40949724
66Abnormal gallbladder physiology (HP:0012438)2.39391959
67Cholecystitis (HP:0001082)2.39391959
68Irritability (HP:0000737)2.37102987
69Neonatal onset (HP:0003623)2.34881867
70Amyloidosis (HP:0011034)2.34868469
71Gout (HP:0001997)2.32976686
72Cardiovascular calcification (HP:0011915)2.31212634
73Gingival bleeding (HP:0000225)2.30642564
74Malnutrition (HP:0004395)2.21498405
75Menorrhagia (HP:0000132)2.21427941
76Esophageal varix (HP:0002040)2.18097411
77Sensorimotor neuropathy (HP:0007141)2.15684084
78Pancreatitis (HP:0001733)2.15281741
79Joint swelling (HP:0001386)2.14224241
80Enlarged kidneys (HP:0000105)2.13549223
81Elevated alkaline phosphatase (HP:0003155)2.13345600
82Brushfield spots (HP:0001088)2.11539661
83Thrombophlebitis (HP:0004418)2.11530881
84Hyperphosphaturia (HP:0003109)2.10577053
85Late onset (HP:0003584)2.07840168
86Vomiting (HP:0002013)2.05980481
87Opisthotonus (HP:0002179)2.05792772
88Reduced antithrombin III activity (HP:0001976)2.01820189
89Abnormality of the gallbladder (HP:0005264)2.01290061
90Hyperinsulinemic hypoglycemia (HP:0000825)2.00282578
91Poikilocytosis (HP:0004447)1.98505116
92Hemorrhage of the eye (HP:0011885)1.98055927
93Rickets (HP:0002748)1.96757998
94Hypophosphatemic rickets (HP:0004912)1.94564052
95Generalized aminoaciduria (HP:0002909)1.93368599
96Abnormality of alkaline phosphatase activity (HP:0004379)1.93306842
97Abnormality of iron homeostasis (HP:0011031)1.93223775
98Arthropathy (HP:0003040)1.91033887
99Abnormality of transition element cation homeostasis (HP:0011030)1.89158681
100Renal cortical cysts (HP:0000803)1.88927581
101Generalized hypopigmentation of hair (HP:0011358)1.88385034
102Abnormality of urine glucose concentration (HP:0011016)1.88088874
103Glycosuria (HP:0003076)1.88088874
104Increased serum ferritin (HP:0003281)1.87399793
105Status epilepticus (HP:0002133)1.86850904
106Increased mean platelet volume (HP:0011877)1.86175180
107Epistaxis (HP:0000421)1.85452626
108Alkalosis (HP:0001948)1.85274974
109Abnormal enzyme/coenzyme activity (HP:0012379)1.83656935
110Elevated hepatic transaminases (HP:0002910)1.82264376
111Abnormality of proline metabolism (HP:0010907)1.81684901
112Hydroxyprolinuria (HP:0003080)1.81684901
113Nephritis (HP:0000123)1.81585996
114Abnormal cartilage morphology (HP:0002763)1.80529804
115Bifid scrotum (HP:0000048)1.78446613
116Abnormality of vitamin metabolism (HP:0100508)1.77440013
117Cerebral palsy (HP:0100021)1.73140361
118Pulmonary embolism (HP:0002204)1.71906000
119Abnormal platelet volume (HP:0011876)1.68931601
120Bile duct proliferation (HP:0001408)1.67979981
121Abnormal biliary tract physiology (HP:0012439)1.67979981
122Abnormality of the Achilles tendon (HP:0005109)1.67432540
123Gangrene (HP:0100758)1.67176461
124Abnormal urine phosphate concentration (HP:0012599)1.66850440
125Blue irides (HP:0000635)1.66632265
126Abnormal delivery (HP:0001787)1.65528834
127Impaired platelet aggregation (HP:0003540)1.57217491
128Abnormal platelet function (HP:0011869)1.57217491

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.08464933
2FGFR44.56524179
3SIK14.44900861
4ERN14.20557385
5TAOK33.25792239
6INSRR3.19893178
7ERBB43.15872068
8MAP2K42.45545704
9MST1R2.16586629
10PRPF4B2.13977780
11PIK3CG1.92050372
12MAPK111.88281232
13PKN21.81481898
14NLK1.75639934
15FLT31.69739867
16TYK21.69624825
17DAPK21.67018089
18NTRK31.61546423
19LATS11.59945311
20ABL21.52232838
21FGFR21.50720222
22TNK21.42699288
23NEK91.41060259
24PTK61.35016056
25CAMKK21.32843456
26FRK1.31806121
27FER1.31314989
28MAP3K141.27157345
29TRIB31.26480607
30MAP3K71.24440819
31MAP3K21.23511903
32JAK21.22716221
33KDR1.19292035
34PINK11.17409178
35PRKAA21.15398588
36JAK11.06221904
37GRK61.05448310
38TBK11.04289678
39MAPK41.02326570
40MAP3K11.01414559
41ERBB21.01156925
42PRKCZ0.98259323
43PRKG10.94716947
44MAPK150.90862317
45EPHB10.89481701
46MAP2K30.89388230
47MAPK120.88928541
48MYLK0.85239899
49MET0.81763770
50CAMK2G0.81257772
51KSR20.80610479
52TIE10.79034127
53IRAK30.78597416
54PRKACG0.78470331
55SCYL20.78186558
56EPHA30.77534068
57CSK0.77319780
58STK38L0.76566826
59MAP3K100.75410517
60EPHA40.74700895
61MAPK70.71641692
62MAP3K30.69923092
63MAP2K60.69245799
64PKN10.68854208
65CDK60.68321331
66GRK10.67305171
67MAP3K110.66888201
68GSK3A0.65961830
69ZAP700.65020511
70CAMK1D0.64634913
71PRKCQ0.63408688
72MAP3K130.63326735
73CAMKK10.63184849
74PRKAA10.61558764
75TGFBR20.59800122
76PBK0.59075904
77SGK30.58730596
78IKBKE0.58653348
79CSF1R0.58558456
80DYRK1B0.58388506
81PRKCB0.57054716
82WNK30.56717578
83CSNK1D0.56216771
84BRSK20.55141996
85PRKACB0.54638465
86TAOK20.54578219
87RPS6KA30.54414239
88CSNK1G10.54259776
89PDPK10.53702443
90ARAF0.53266351
91CSNK1E0.52796918
92FGFR30.50031846
93PRKCG0.49749350
94SGK20.48498992
95PTK20.48443401
96BLK0.48413697
97IGF1R0.47925485
98MAP3K50.44295268
99MAP3K90.42557701
100IRAK10.41540015
101MAP2K10.41108433
102SRC0.40747458
103IRAK20.40275658
104RIPK10.39539828
105SGK10.37845913
106MAP3K120.36479213
107ICK0.36456680
108SGK2230.36159620
109SGK4940.36159620
110PIK3CA0.35901790
111RET0.35136386
112CSNK1G20.34601588
113MAP3K60.33493079
114CSNK2A10.33289367
115EGFR0.33265527
116PDK10.32504484
117CSNK1G30.32099330
118PRKCA0.29592151
119CAMK40.29344861
120CDK40.28268927
121PAK30.27282453
122CAMK1G0.26236691
123ABL10.25500021
124CSNK1A1L0.23834037
125MTOR0.22864279
126AKT30.21540543
127PRKACA0.20749887

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.59808087
2Nitrogen metabolism_Homo sapiens_hsa009103.56492746
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.42616776
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.36070539
5Arginine biosynthesis_Homo sapiens_hsa002203.07977678
6* Complement and coagulation cascades_Homo sapiens_hsa046102.77543168
7Tryptophan metabolism_Homo sapiens_hsa003802.72251383
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.70518722
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.57051713
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.52840249
11Fatty acid degradation_Homo sapiens_hsa000712.43628425
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36180283
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.26194604
14Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.18636243
15Butanoate metabolism_Homo sapiens_hsa006502.13344806
16Peroxisome_Homo sapiens_hsa041462.08195215
17Steroid hormone biosynthesis_Homo sapiens_hsa001402.00595198
18Chemical carcinogenesis_Homo sapiens_hsa052041.98662408
19Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.96844598
20Histidine metabolism_Homo sapiens_hsa003401.93112316
21Propanoate metabolism_Homo sapiens_hsa006401.91081721
22Caffeine metabolism_Homo sapiens_hsa002321.85721885
23PPAR signaling pathway_Homo sapiens_hsa033201.85483732
24Staphylococcus aureus infection_Homo sapiens_hsa051501.82364221
25Drug metabolism - other enzymes_Homo sapiens_hsa009831.77379403
26Fatty acid metabolism_Homo sapiens_hsa012121.76572797
27Retinol metabolism_Homo sapiens_hsa008301.75799652
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.74034411
29beta-Alanine metabolism_Homo sapiens_hsa004101.71596627
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.68404585
31Phenylalanine metabolism_Homo sapiens_hsa003601.58353750
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.58104006
33Selenocompound metabolism_Homo sapiens_hsa004501.52270186
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51370132
35Bile secretion_Homo sapiens_hsa049761.48386005
36Tyrosine metabolism_Homo sapiens_hsa003501.46116372
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.43840459
38Fatty acid elongation_Homo sapiens_hsa000621.35872901
39Sulfur metabolism_Homo sapiens_hsa009201.33087043
40Pyruvate metabolism_Homo sapiens_hsa006201.32974679
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.29628814
42Starch and sucrose metabolism_Homo sapiens_hsa005001.28245793
43Steroid biosynthesis_Homo sapiens_hsa001001.21349863
44ABC transporters_Homo sapiens_hsa020101.20542467
45Folate biosynthesis_Homo sapiens_hsa007901.17860816
46Biosynthesis of amino acids_Homo sapiens_hsa012301.15699349
47Fat digestion and absorption_Homo sapiens_hsa049751.13758728
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09786978
49Carbon metabolism_Homo sapiens_hsa012001.07182610
50Maturity onset diabetes of the young_Homo sapiens_hsa049500.99797448
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96887191
52Arginine and proline metabolism_Homo sapiens_hsa003300.95904142
53Vitamin B6 metabolism_Homo sapiens_hsa007500.93703117
54Cyanoamino acid metabolism_Homo sapiens_hsa004600.92485125
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89357488
56Sulfur relay system_Homo sapiens_hsa041220.88893777
57Vitamin digestion and absorption_Homo sapiens_hsa049770.84764906
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79911816
59Lysine degradation_Homo sapiens_hsa003100.78358325
60One carbon pool by folate_Homo sapiens_hsa006700.71674830
61Glycerolipid metabolism_Homo sapiens_hsa005610.65913556
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65692072
63Glutathione metabolism_Homo sapiens_hsa004800.63247125
64Fatty acid biosynthesis_Homo sapiens_hsa000610.52998192
65Pentose phosphate pathway_Homo sapiens_hsa000300.52640206
66Metabolic pathways_Homo sapiens_hsa011000.45955699
67Prion diseases_Homo sapiens_hsa050200.41200225
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40724041
69Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.38327583
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25661288
71Linoleic acid metabolism_Homo sapiens_hsa005910.24745887
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21427349
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.20855362
74Galactose metabolism_Homo sapiens_hsa000520.20339223
75Insulin resistance_Homo sapiens_hsa049310.19878266
76Fructose and mannose metabolism_Homo sapiens_hsa000510.19584676
77Glycerophospholipid metabolism_Homo sapiens_hsa005640.15931599
78Glucagon signaling pathway_Homo sapiens_hsa049220.08314983
79Serotonergic synapse_Homo sapiens_hsa047260.02564367
80FoxO signaling pathway_Homo sapiens_hsa04068-0.2780278
81Sphingolipid metabolism_Homo sapiens_hsa00600-0.2661154
82RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622-0.2489955
83Pertussis_Homo sapiens_hsa05133-0.2458269
84Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.2447483
85Amoebiasis_Homo sapiens_hsa05146-0.2350969
86Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2345788
87Type II diabetes mellitus_Homo sapiens_hsa04930-0.2211208
88Renin-angiotensin system_Homo sapiens_hsa04614-0.2136011
89Circadian rhythm_Homo sapiens_hsa04710-0.2108266
90Thyroid hormone synthesis_Homo sapiens_hsa04918-0.2068743
91Ether lipid metabolism_Homo sapiens_hsa00565-0.2007865
92Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.1981231
93Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1890507
94Hepatitis C_Homo sapiens_hsa05160-0.1807878
95Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1743467
96Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1636482
97Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1529402
98Other glycan degradation_Homo sapiens_hsa00511-0.1432632
99Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1407236
100Regulation of autophagy_Homo sapiens_hsa04140-0.1260910
101Insulin signaling pathway_Homo sapiens_hsa04910-0.1246721
102African trypanosomiasis_Homo sapiens_hsa05143-0.1148361
103Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1043424
104Mineral absorption_Homo sapiens_hsa04978-0.0987330
105Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0765969
106Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0511706
107Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0275692
108AMPK signaling pathway_Homo sapiens_hsa04152-0.0013730

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