ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of fibrinolysis (GO:0051918)	9.04617729
2	regulation of fibrinolysis (GO:0051917)	8.61985400
3	* regulation of protein activation cascade (GO:2000257)	8.61693630
4	* regulation of complement activation (GO:0030449)	8.18034074
5	* complement activation, alternative pathway (GO:0006957)	7.70431728
6	protein carboxylation (GO:0018214)	7.50384068
7	peptidyl-glutamic acid carboxylation (GO:0017187)	7.50384068
8	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	7.09138399
9	L-phenylalanine catabolic process (GO:0006559)	7.09138399
10	blood coagulation, intrinsic pathway (GO:0007597)	6.64046458
11	L-phenylalanine metabolic process (GO:0006558)	6.59247870
12	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	6.59247870
13	exogenous drug catabolic process (GO:0042738)	6.10112018
14	very-low-density lipoprotein particle assembly (GO:0034379)	6.02243682
15	epoxygenase P450 pathway (GO:0019373)	5.89872440
16	negative regulation of protein activation cascade (GO:2000258)	5.88197512
17	drug catabolic process (GO:0042737)	5.84819650
18	fibrinolysis (GO:0042730)	5.79443423
19	plasma lipoprotein particle remodeling (GO:0034369)	5.76286324
20	protein-lipid complex remodeling (GO:0034368)	5.76286324
21	macromolecular complex remodeling (GO:0034367)	5.76286324
22	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	5.71751334
23	plasma lipoprotein particle assembly (GO:0034377)	5.66580504
24	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	5.66092207
25	regulation of cholesterol esterification (GO:0010872)	5.64781080
26	low-density lipoprotein particle remodeling (GO:0034374)	5.61891097
27	omega-hydroxylase P450 pathway (GO:0097267)	5.57750675
28	cholesterol efflux (GO:0033344)	5.57107675
29	negative regulation of cholesterol transport (GO:0032375)	5.48712427
30	negative regulation of sterol transport (GO:0032372)	5.48712427
31	regulation of plasminogen activation (GO:0010755)	5.47046357
32	high-density lipoprotein particle remodeling (GO:0034375)	5.33980959
33	glyoxylate metabolic process (GO:0046487)	5.32773303
34	regulation of apoptotic cell clearance (GO:2000425)	5.30485137
35	intestinal cholesterol absorption (GO:0030299)	5.21683388
36	* protein activation cascade (GO:0072376)	5.18412558
37	cellular glucuronidation (GO:0052695)	5.01410440
38	protein-lipid complex assembly (GO:0065005)	5.01170008
39	urea metabolic process (GO:0019627)	5.01012788
40	ethanol oxidation (GO:0006069)	4.97555343
41	aromatic amino acid family catabolic process (GO:0009074)	4.93339161
42	acute-phase response (GO:0006953)	4.93028481
43	reverse cholesterol transport (GO:0043691)	4.92155502
44	* regulation of humoral immune response (GO:0002920)	4.90987580
45	plasma lipoprotein particle organization (GO:0071827)	4.86223333
46	negative regulation of blood coagulation (GO:0030195)	4.73545413
47	negative regulation of hemostasis (GO:1900047)	4.73545413
48	glucuronate metabolic process (GO:0019585)	4.72500010
49	uronic acid metabolic process (GO:0006063)	4.72500010
50	plasma lipoprotein particle clearance (GO:0034381)	4.71551684
51	phospholipid efflux (GO:0033700)	4.70428638
52	negative regulation of complement activation (GO:0045916)	4.59299954
53	protein-lipid complex subunit organization (GO:0071825)	4.55415012
54	* complement activation, classical pathway (GO:0006958)	4.53169609
55	nitrogen cycle metabolic process (GO:0071941)	4.49062621
56	* complement activation (GO:0006956)	4.48622119
57	positive regulation of blood coagulation (GO:0030194)	4.48299690
58	positive regulation of hemostasis (GO:1900048)	4.48299690
59	bile acid metabolic process (GO:0008206)	4.41313277
60	bile acid biosynthetic process (GO:0006699)	4.37725914
61	positive regulation of lipoprotein lipase activity (GO:0051006)	4.34521356
62	positive regulation of triglyceride lipase activity (GO:0061365)	4.34521356
63	negative regulation of coagulation (GO:0050819)	4.32817135
64	urea cycle (GO:0000050)	4.31678900
65	imidazole-containing compound metabolic process (GO:0052803)	4.27563212
66	acylglycerol homeostasis (GO:0055090)	4.24986937
67	triglyceride homeostasis (GO:0070328)	4.24986937
68	negative regulation of wound healing (GO:0061045)	4.24497983
69	serine family amino acid catabolic process (GO:0009071)	4.15970236
70	glutamate metabolic process (GO:0006536)	4.13568518
71	positive regulation of coagulation (GO:0050820)	4.11911129
72	drug metabolic process (GO:0017144)	4.11317301
73	regulation of bile acid biosynthetic process (GO:0070857)	4.04457192
74	negative regulation of lipase activity (GO:0060192)	4.04383434
75	ethanol metabolic process (GO:0006067)	4.03260321
76	regulation of triglyceride catabolic process (GO:0010896)	3.96910379
77	killing of cells in other organism involved in symbiotic interaction (GO:0051883)	3.93121800
78	disruption of cells of other organism involved in symbiotic interaction (GO:0051818)	3.93121800
79	bile acid and bile salt transport (GO:0015721)	3.88246796
80	opsonization (GO:0008228)	3.87295057
81	oxidative demethylation (GO:0070989)	3.73645138
82	lipoprotein metabolic process (GO:0042157)	3.73002094
83	glycine metabolic process (GO:0006544)	3.72668119
84	tyrosine metabolic process (GO:0006570)	3.72610765
85	polyketide metabolic process (GO:0030638)	3.67118898
86	doxorubicin metabolic process (GO:0044598)	3.67118898
87	daunorubicin metabolic process (GO:0044597)	3.67118898
88	positive regulation of fatty acid biosynthetic process (GO:0045723)	3.64274400
89	acute inflammatory response (GO:0002526)	3.63420780
90	cholesterol homeostasis (GO:0042632)	3.63064481
91	sterol homeostasis (GO:0055092)	3.57809693
92	negative regulation of humoral immune response (GO:0002921)	3.57658322
93	* cytolysis (GO:0019835)	3.56819644
94	sterol transport (GO:0015918)	3.54705881
95	cholesterol transport (GO:0030301)	3.54705881
96	phospholipid homeostasis (GO:0055091)	3.49843333
97	positive regulation of extracellular matrix organization (GO:1903055)	3.42375598
98	flavonoid metabolic process (GO:0009812)	3.32572441
99	* regulation of acute inflammatory response (GO:0002673)	3.32368190
100	alpha-amino acid catabolic process (GO:1901606)	3.31101420

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RXR_22158963_ChIP-Seq_LIVER_Mouse	6.65635501
2	EGR1_23403033_ChIP-Seq_LIVER_Mouse	5.92936606
3	LXR_22158963_ChIP-Seq_LIVER_Mouse	5.67470511
4	PPARA_22158963_ChIP-Seq_LIVER_Mouse	5.62536232
5	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	4.70625871
6	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	4.51710214
7	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	4.12615011
8	FOXA2_19822575_ChIP-Seq_HepG2_Human	3.83518469
9	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	3.74053450
10	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	3.61332659
11	* HNF4A_19822575_ChIP-Seq_HepG2_Human	3.00082175
12	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	2.77880021
13	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	2.13394393
14	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	11.3437026
15	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.74767835
16	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.72751896
17	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.68197349
18	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.61988786
19	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.59014895
20	GATA4_25053715_ChIP-Seq_YYC3_Human	1.56492326
21	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.50179037
22	CLOCK_20551151_ChIP-Seq_293T_Human	1.41858029
23	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.33211340
24	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.32899641
25	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.30733874
26	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.29141173
27	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.25566922
28	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.22660319
29	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.21464050
30	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.21108121
31	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.20740123
32	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.18256642
33	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.17686960
34	AR_21909140_ChIP-Seq_LNCAP_Human	1.14099084
35	GATA6_25053715_ChIP-Seq_YYC3_Human	1.12209641
36	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.10524445
37	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.04069526
38	HTT_18923047_ChIP-ChIP_STHdh_Human	1.01854200
39	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.01015130
40	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.98650017
41	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.97936425
42	FOXA1_25552417_ChIP-Seq_VCAP_Human	0.96509519
43	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.94761100
44	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	0.93628934
45	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.93536599
46	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.91484373
47	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.90435262
48	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.88466480
49	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.86128313
50	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	0.85127837
51	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.83996195
52	ZNF263_19887448_ChIP-Seq_K562_Human	0.83945154
53	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.83443594
54	SOX2_20726797_ChIP-Seq_SW620_Human	0.82255661
55	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.81892186
56	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.81519421
57	SMAD1_18555785_Chip-Seq_ESCs_Mouse	0.80626090
58	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.77971316
59	TP53_16413492_ChIP-PET_HCT116_Human	0.77625244
60	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.75464306
61	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.75288578
62	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.75267106
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.75097910
64	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.75068115
65	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.72492428
66	* CTNNB1_20460455_ChIP-Seq_HCT116_Human	0.72474195
67	ESRRB_18555785_Chip-Seq_ESCs_Mouse	0.70815263
68	CEBPB_22108803_ChIP-Seq_LS180_Human	0.70784888
69	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.69704127
70	RUNX1_27457419_Chip-Seq_LIVER_Mouse	0.69492195
71	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.68464782
72	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.67785317
73	IGF1R_20145208_ChIP-Seq_DFB_Human	0.66511996
74	ZFX_18555785_Chip-Seq_ESCs_Mouse	0.66509929
75	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.65743815
76	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.65339681
77	PU1_27457419_Chip-Seq_LIVER_Mouse	0.64363359
78	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.64324647
79	KLF4_18555785_Chip-Seq_ESCs_Mouse	0.63957806
80	AR_21572438_ChIP-Seq_LNCaP_Human	0.63763066
81	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.62916155
82	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.62916155
83	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	0.62546565
84	TP53_18474530_ChIP-ChIP_U2OS_Human	0.61896619
85	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.61497318
86	POU5F1_16518401_ChIP-PET_MESCs_Mouse	0.61367623
87	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.61122551
88	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	0.60160960
89	CTCF_18555785_Chip-Seq_ESCs_Mouse	0.60089068
90	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.58800581
91	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.58251015
92	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	0.57213532
93	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.56891572
94	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.56818820
95	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.55772760
96	NMYC_18555785_Chip-Seq_ESCs_Mouse	0.55378854
97	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.54761270
98	EP300_21415370_ChIP-Seq_HL-1_Mouse	0.54430213
99	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.54230918
100	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.53312227

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002139_abnormal_hepatobiliary_system	8.77746090
2	MP0005365_abnormal_bile_salt	5.93327367
3	MP0005360_urolithiasis	5.77858299
4	MP0005085_abnormal_gallbladder_physiolo	5.74252916
5	MP0003195_calcinosis	5.41271194
6	MP0008875_abnormal_xenobiotic_pharmacok	4.69032567
7	MP0003252_abnormal_bile_duct	4.20344499
8	MP0001666_abnormal_nutrient_absorption	3.69840340
9	MP0010329_abnormal_lipoprotein_level	3.58400453
10	MP0002138_abnormal_hepatobiliary_system	3.44259850
11	MP0003868_abnormal_feces_composition	3.23165152
12	MP0003122_maternal_imprinting	2.55066989
13	MP0005332_abnormal_amino_acid	2.19399665
14	MP0010368_abnormal_lymphatic_system	2.19240576
15	MP0005408_hypopigmentation	1.97063609
16	MP0000609_abnormal_liver_physiology	1.96361732
17	MP0009840_abnormal_foam_cell	1.96008910
18	MP0003191_abnormal_cellular_cholesterol	1.95043967
19	MP0009697_abnormal_copulation	1.93320139
20	MP0002118_abnormal_lipid_homeostasis	1.81430268
21	MP0001915_intracranial_hemorrhage	1.59330464
22	MP0000566_synostosis	1.46311839
23	MP0001661_extended_life_span	1.45036328
24	MP0002132_abnormal_respiratory_system	1.44562956
25	MP0002876_abnormal_thyroid_physiology	1.36579013
26	MP0003806_abnormal_nucleotide_metabolis	1.29880307
27	MP0001764_abnormal_homeostasis	1.29699129
28	MP0002089_abnormal_postnatal_growth/wei	1.25343522
29	MP0005451_abnormal_body_composition	1.22802878
30	MP0004019_abnormal_vitamin_homeostasis	1.21584636
31	MP0000598_abnormal_liver_morphology	1.19948105
32	MP0000604_amyloidosis	1.16302020
33	MP0005319_abnormal_enzyme/_coenzyme	1.06672292
34	MP0005058_abnormal_lysosome_morphology	1.04545970
35	MP0003656_abnormal_erythrocyte_physiolo	1.04074271
36	MP0003123_paternal_imprinting	1.03824787
37	MP0005670_abnormal_white_adipose	0.96590534
38	MP0005464_abnormal_platelet_physiology	0.95027496
39	MP0005636_abnormal_mineral_homeostasis	0.90537975
40	MP0006054_spinal_hemorrhage	0.90490477
41	MP0009642_abnormal_blood_homeostasis	0.89869318
42	MP0004272_abnormal_basement_membrane	0.86931512
43	MP0009643_abnormal_urine_homeostasis	0.85207685
44	MP0005584_abnormal_enzyme/coenzyme_acti	0.83279396
45	MP0003172_abnormal_lysosome_physiology	0.83081045
46	MP0003690_abnormal_glial_cell	0.80761678
47	MP0005084_abnormal_gallbladder_morpholo	0.80403998
48	MP0005409_darkened_coat_color	0.79057160
49	MP0002282_abnormal_trachea_morphology	0.77869505
50	MP0002971_abnormal_brown_adipose	0.76195626
51	MP0000639_abnormal_adrenal_gland	0.75925463
52	MP0008469_abnormal_protein_level	0.70914140
53	MP0005376_homeostasis/metabolism_phenot	0.68380464
54	MP0005167_abnormal_blood-brain_barrier	0.67397652
55	MP0002078_abnormal_glucose_homeostasis	0.65474132
56	MP0009763_increased_sensitivity_to	0.65193076
57	MP0005164_abnormal_response_to	0.63685556
58	MP0009780_abnormal_chondrocyte_physiolo	0.63052574
59	MP0005220_abnormal_exocrine_pancreas	0.62886271
60	MP0003121_genomic_imprinting	0.59794150
61	MP0005023_abnormal_wound_healing	0.59655836
62	MP0003632_abnormal_nervous_system	0.58877413
63	MP0005395_other_phenotype	0.58732688
64	MP0009053_abnormal_anal_canal	0.54832075
65	MP0003879_abnormal_hair_cell	0.54416185
66	MP0002168_other_aberrant_phenotype	0.53438181
67	MP0001324_abnormal_eye_pigmentation	0.50890108
68	MP0003011_delayed_dark_adaptation	0.50244539
69	MP0000920_abnormal_myelination	0.49540250
70	MP0005187_abnormal_penis_morphology	0.49069913
71	MP0009115_abnormal_fat_cell	0.48246769
72	MP0003890_abnormal_embryonic-extraembry	0.48244593
73	MP0003950_abnormal_plasma_membrane	0.47947875
74	MP0004883_abnormal_blood_vessel	0.47781396
75	MP0003943_abnormal_hepatobiliary_system	0.47492281
76	MP0002933_joint_inflammation	0.44646894
77	MP0001756_abnormal_urination	0.44529835
78	MP0003183_abnormal_peptide_metabolism	0.43640807
79	MP0003953_abnormal_hormone_level	0.42226513
80	MP0005448_abnormal_energy_balance	0.42202168
81	MP0003567_abnormal_fetal_cardiomyocyte	0.41787447
82	MP0005334_abnormal_fat_pad	0.41311197
83	MP0003878_abnormal_ear_physiology	0.41166953
84	MP0005377_hearing/vestibular/ear_phenot	0.41166953
85	MP0002909_abnormal_adrenal_gland	0.41164358
86	MP0005257_abnormal_intraocular_pressure	0.40712923
87	MP0003638_abnormal_response/metabolism_	0.40358276
88	MP0002128_abnormal_blood_circulation	0.39839617
89	MP0003633_abnormal_nervous_system	0.39675248
90	MP0005410_abnormal_fertilization	0.38286138
91	MP0009384_cardiac_valve_regurgitation	0.38045727
92	MP0003631_nervous_system_phenotype	0.37512623
93	MP0003329_amyloid_beta_deposits	0.37355817
94	MP0000249_abnormal_blood_vessel	0.35934153
95	MP0005647_abnormal_sex_gland	0.35506882
96	MP0003115_abnormal_respiratory_system	0.35109449
97	MP0003941_abnormal_skin_development	0.35037152
98	MP0004264_abnormal_extraembryonic_tissu	0.34491030
99	MP0003699_abnormal_female_reproductive	0.31220851
100	MP0005076_abnormal_cell_differentiation	0.30998366

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Prolonged partial thromboplastin time (HP:0003645)	9.18392630
2	* Complement deficiency (HP:0004431)	8.56861376
3	Hypobetalipoproteinemia (HP:0003563)	7.98327894
4	Abnormality of monocarboxylic acid metabolism (HP:0010996)	6.99613358
5	Joint hemorrhage (HP:0005261)	6.81875561
6	* Abnormality of complement system (HP:0005339)	6.55167282
7	Abnormality of the common coagulation pathway (HP:0010990)	6.42733694
8	Abnormality of aromatic amino acid family metabolism (HP:0004338)	6.34572173
9	Glomerulonephritis (HP:0000099)	6.12019720
10	Conjugated hyperbilirubinemia (HP:0002908)	5.83802960
11	Systemic lupus erythematosus (HP:0002725)	5.59099030
12	Spontaneous abortion (HP:0005268)	5.51286146
13	Xanthomatosis (HP:0000991)	5.07934394
14	Hypolipoproteinemia (HP:0010981)	4.74366495
15	Intrahepatic cholestasis (HP:0001406)	4.62328655
16	Hypercholesterolemia (HP:0003124)	3.94902165
17	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	3.84617304
18	Nephritis (HP:0000123)	3.82005182
19	Hyperlipoproteinemia (HP:0010980)	3.77862794
20	Recurrent gram-negative bacterial infections (HP:0005420)	3.77333379
21	Gingival bleeding (HP:0000225)	3.75653532
22	Abnormality of the intrinsic pathway (HP:0010989)	3.54145407
23	Epidermoid cyst (HP:0200040)	3.49882713
24	Fat malabsorption (HP:0002630)	3.48286093
25	Menorrhagia (HP:0000132)	3.47260955
26	Vascular calcification (HP:0004934)	3.28411580
27	Hemorrhage of the eye (HP:0011885)	3.23333547
28	Abnormality of pyrimidine metabolism (HP:0004353)	3.21689359
29	Acanthocytosis (HP:0001927)	3.09714221
30	Thrombophlebitis (HP:0004418)	2.99362499
31	Osteomalacia (HP:0002749)	2.98949135
32	Hypoalphalipoproteinemia (HP:0003233)	2.98736612
33	Mitral stenosis (HP:0001718)	2.95841568
34	Purpura (HP:0000979)	2.94924701
35	Hepatocellular carcinoma (HP:0001402)	2.89830773
36	Cardiovascular calcification (HP:0011915)	2.88637502
37	Arthropathy (HP:0003040)	2.58906464
38	Generalized aminoaciduria (HP:0002909)	2.54945389
39	Rickets (HP:0002748)	2.51879910
40	Hyperglycinemia (HP:0002154)	2.49667103
41	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.48244245
42	Abnormal tarsal ossification (HP:0008369)	2.48219901
43	Hypophosphatemic rickets (HP:0004912)	2.43026721
44	Abnormality of methionine metabolism (HP:0010901)	2.34968093
45	Abnormality of carpal bone ossification (HP:0006257)	2.28558289
46	Myocardial infarction (HP:0001658)	2.27406299
47	Hyperammonemia (HP:0001987)	2.26857965
48	Enlarged kidneys (HP:0000105)	2.22679765
49	Skin nodule (HP:0200036)	2.18359041
50	Pulmonary embolism (HP:0002204)	2.15531182
51	Abnormality of glycine metabolism (HP:0010895)	2.12907980
52	Abnormality of serine family amino acid metabolism (HP:0010894)	2.12907980
53	Poikilocytosis (HP:0004447)	2.10929990
54	Facial shape deformation (HP:0011334)	2.09801817
55	Potter facies (HP:0002009)	2.09801817
56	Joint swelling (HP:0001386)	2.07774494
57	Flat acetabular roof (HP:0003180)	2.05506295
58	Deep venous thrombosis (HP:0002625)	11.3787962
59	Steatorrhea (HP:0002570)	1.98007072
60	Increased serum pyruvate (HP:0003542)	1.97128257
61	Abnormal delivery (HP:0001787)	1.95322890
62	Hyperglycinuria (HP:0003108)	1.94521771
63	Epistaxis (HP:0000421)	1.92395751
64	Abnormality of nucleobase metabolism (HP:0010932)	1.89781985
65	Small epiphyses (HP:0010585)	1.88083340
66	Broad alveolar ridges (HP:0000187)	1.86304931
67	Pancreatic islet-cell hyperplasia (HP:0004510)	1.85117913
68	Delayed CNS myelination (HP:0002188)	1.84324516
69	Abnormality of the nasal septum (HP:0000419)	1.82618451
70	Hyperbilirubinemia (HP:0002904)	1.81551596
71	Amyloidosis (HP:0011034)	1.81233267
72	Fair hair (HP:0002286)	1.80167667
73	Hypoglycemic coma (HP:0001325)	1.78209161
74	Abnormality of proline metabolism (HP:0010907)	1.77133953
75	Hydroxyprolinuria (HP:0003080)	1.77133953
76	Increased serum ferritin (HP:0003281)	1.73781543
77	Hepatoblastoma (HP:0002884)	1.72055402
78	Abnormality of the Achilles tendon (HP:0005109)	1.70759645
79	Abnormality of glycolysis (HP:0004366)	1.70224253
80	Bifid scrotum (HP:0000048)	1.69723338
81	Abnormal hand bone ossification (HP:0010660)	1.68759406
82	Abnormality of the lumbar spine (HP:0100712)	1.65727439
83	Abnormality of transition element cation homeostasis (HP:0011030)	1.65464905
84	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.65444989
85	Neoplasm of the liver (HP:0002896)	1.62839805
86	Peritonitis (HP:0002586)	1.62644838
87	Abnormal ossification of hand bones (HP:0005921)	1.61855213
88	Abnormality of serum amino acid levels (HP:0003112)	1.61366718
89	Hyperphosphaturia (HP:0003109)	1.58925583
90	Scanning speech (HP:0002168)	1.58174702
91	Abnormality of iron homeostasis (HP:0011031)	1.57945891
92	Broad palm (HP:0001169)	1.57623794
93	Abnormal foot bone ossification (HP:0010675)	1.55779595
94	Esophageal varix (HP:0002040)	1.54753663
95	Widely patent fontanelles and sutures (HP:0004492)	1.54669528
96	Elevated alkaline phosphatase (HP:0003155)	1.53958487
97	Abnormality of urine glucose concentration (HP:0011016)	1.53710435
98	Glycosuria (HP:0003076)	1.53710435
99	Gangrene (HP:0100758)	1.53659533
100	Reduced antithrombin III activity (HP:0001976)	1.50120977

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FGFR4	6.76920861
2	FGFR3	5.04024222
3	PIK3CA	3.26686015
4	ICK	3.21661721
5	WNK4	3.04413016
6	ERN1	2.64398209
7	CDK12	2.42113871
8	FGFR2	2.35937220
9	RIPK1	2.21298087
10	AKT3	2.10671150
11	TYRO3	2.09092403
12	FGFR1	2.03104292
13	PIK3CG	1.99819905
14	PDGFRA	1.95523365
15	LATS1	1.85379745
16	PRKAA2	1.84331077
17	NEK9	1.70201451
18	TRIB3	1.61169665
19	RET	1.58887701
20	WNK1	1.53044706
21	MAPK11	1.49940985
22	TGFBR2	1.46186443
23	PKN2	1.43303913
24	MAP3K2	1.34373330
25	BRSK2	1.29989721
26	ERBB2	1.21508610
27	EIF2AK1	1.19697831
28	SIK1	1.17780773
29	PDPK1	1.14062737
30	DYRK1B	1.13855110
31	TYK2	1.10194562
32	PRKACG	1.07014502
33	SGK494	1.02676678
34	SGK223	1.02676678
35	CAMK1D	1.02423543
36	EPHA3	0.96737503
37	SIK2	0.94689809
38	PDK1	0.88826242
39	NTRK3	0.87954075
40	NLK	0.87365135
41	DDR2	0.87257012
42	CSNK1E	0.85958583
43	STK39	0.85154137
44	PRKAA1	0.84616437
45	SGK3	0.83935493
46	BCR	0.83680028
47	EEF2K	0.82135303
48	SGK2	0.80306971
49	CSF1R	0.80159103
50	EPHA4	0.80066098
51	MAP2K4	0.78917858
52	MET	0.78431963
53	FGR	0.78007907
54	CAMKK2	0.77904214
55	RPS6KB1	0.76728417
56	IGF1R	0.76428123
57	MST1R	0.75331332
58	CAMK1G	0.72050173
59	FLT3	0.71080771
60	SGK1	0.67847703
61	CDK6	0.66734900
62	CDK7	0.63954633
63	BRD4	0.61020634
64	BRSK1	0.60357904
65	PRKCG	0.60271220
66	CSNK1D	0.60047500
67	MAP3K6	0.58913151
68	MAPKAPK3	0.57604887
69	ERBB4	0.56394713
70	PRKCZ	0.56209596
71	EIF2AK3	0.53470092
72	FER	0.52696290
73	PRKG1	0.51764015
74	IRAK3	0.50911208
75	CDC42BPA	0.48168958
76	KSR2	0.47155720
77	PDGFRB	0.46953973
78	LATS2	0.46868193
79	MAP3K7	0.45634714
80	SCYL2	0.45490756
81	SRC	0.43674263
82	NEK1	0.42924101
83	MAP2K6	0.42795892
84	MTOR	0.42644834
85	JAK1	0.41401231
86	BCKDK	0.41034053
87	RPS6KA3	0.38480081
88	MAP2K3	0.38384430
89	PRKACB	0.38010186
90	CSNK2A1	0.36901759
91	YES1	0.36709902
92	MATK	0.36394873
93	CSNK2A2	0.35931266
94	MAP3K5	0.35544446
95	CDK4	0.35344093
96	MELK	0.34988390
97	GSK3A	0.32324635
98	STK38L	0.31981140
99	CDK9	0.31060720
100	EPHA2	0.30603724

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	* Complement and coagulation cascades_Homo sapiens_hsa04610	5.21215769
2	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	4.41390663
3	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	3.60626501
4	Primary bile acid biosynthesis_Homo sapiens_hsa00120	3.28726752
5	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	3.02983678
6	Retinol metabolism_Homo sapiens_hsa00830	2.91394848
7	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.84002922
8	Arginine biosynthesis_Homo sapiens_hsa00220	2.52777352
9	Caffeine metabolism_Homo sapiens_hsa00232	2.52094183
10	Chemical carcinogenesis_Homo sapiens_hsa05204	2.50290498
11	Fatty acid degradation_Homo sapiens_hsa00071	2.48262008
12	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.45751023
13	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.43785397
14	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.38435929
15	Phenylalanine metabolism_Homo sapiens_hsa00360	2.23322262
16	Drug metabolism - other enzymes_Homo sapiens_hsa00983	2.22614085
17	Histidine metabolism_Homo sapiens_hsa00340	2.09537594
18	Tyrosine metabolism_Homo sapiens_hsa00350	2.03982999
19	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.92966969
20	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.87573818
21	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.79205036
22	Bile secretion_Homo sapiens_hsa04976	1.78191951
23	Butanoate metabolism_Homo sapiens_hsa00650	1.72203704
24	PPAR signaling pathway_Homo sapiens_hsa03320	1.71493717
25	* Staphylococcus aureus infection_Homo sapiens_hsa05150	1.62568716
26	Fat digestion and absorption_Homo sapiens_hsa04975	1.61176432
27	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.59961970
28	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.58757221
29	Tryptophan metabolism_Homo sapiens_hsa00380	1.52155977
30	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.49435676
31	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.36749683
32	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.29604391
33	Fatty acid metabolism_Homo sapiens_hsa01212	1.28805181
34	Peroxisome_Homo sapiens_hsa04146	1.27525127
35	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.27474752
36	Linoleic acid metabolism_Homo sapiens_hsa00591	1.25098232
37	ABC transporters_Homo sapiens_hsa02010	1.22194386
38	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.16846769
39	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.13008525
40	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.06923748
41	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.04837335
42	Propanoate metabolism_Homo sapiens_hsa00640	1.01740897
43	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.01397284
44	beta-Alanine metabolism_Homo sapiens_hsa00410	1.00749647
45	Arginine and proline metabolism_Homo sapiens_hsa00330	1.00539285
46	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.97452852
47	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.95820792
48	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.95421093
49	Steroid biosynthesis_Homo sapiens_hsa00100	0.95303898
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.92697756
51	Pyruvate metabolism_Homo sapiens_hsa00620	0.91372121
52	* Prion diseases_Homo sapiens_hsa05020	0.87060382
53	Carbon metabolism_Homo sapiens_hsa01200	0.79363128
54	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.79025500
55	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.78810515
56	One carbon pool by folate_Homo sapiens_hsa00670	0.76895423
57	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.66674727
58	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.64939070
59	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.60958841
60	Lysine degradation_Homo sapiens_hsa00310	0.59445217
61	Other glycan degradation_Homo sapiens_hsa00511	0.56534592
62	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49831116
63	Insulin resistance_Homo sapiens_hsa04931	0.40753647
64	Metabolic pathways_Homo sapiens_hsa01100	0.40167557
65	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.39969913
66	Renin-angiotensin system_Homo sapiens_hsa04614	0.39446284
67	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.38785919
68	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.38752505
69	Sulfur metabolism_Homo sapiens_hsa00920	0.36563003
70	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.34279759
71	* Pertussis_Homo sapiens_hsa05133	0.32523626
72	Glucagon signaling pathway_Homo sapiens_hsa04922	0.31161151
73	Galactose metabolism_Homo sapiens_hsa00052	0.29643503
74	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.28682878
75	Sulfur relay system_Homo sapiens_hsa04122	0.27290321
76	Fatty acid elongation_Homo sapiens_hsa00062	0.27178109
77	Nitrogen metabolism_Homo sapiens_hsa00910	0.20003779
78	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.17804044
79	Selenocompound metabolism_Homo sapiens_hsa00450	0.14772400
80	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.13062637
81	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.12496042
82	Mineral absorption_Homo sapiens_hsa04978	0.10572202
83	Pentose phosphate pathway_Homo sapiens_hsa00030	0.10048104
84	AMPK signaling pathway_Homo sapiens_hsa04152	0.08821808
85	Glutathione metabolism_Homo sapiens_hsa00480	0.07599021
86	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.06542051
87	* Systemic lupus erythematosus_Homo sapiens_hsa05322	0.03601149
88	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.02140483
89	ECM-receptor interaction_Homo sapiens_hsa04512	0.01059413
90	Amoebiasis_Homo sapiens_hsa05146	0.00214456
91	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	-0.1560540
92	Ether lipid metabolism_Homo sapiens_hsa00565	-0.1530047
93	Central carbon metabolism in cancer_Homo sapiens_hsa05230	-0.1215406
94	Folate biosynthesis_Homo sapiens_hsa00790	-0.1039041
95	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	-0.0713321
96	African trypanosomiasis_Homo sapiens_hsa05143	-0.0706003
97	Circadian rhythm_Homo sapiens_hsa04710	-0.0661864
98	Insulin signaling pathway_Homo sapiens_hsa04910	-0.0362870
99	Sphingolipid metabolism_Homo sapiens_hsa00600	-0.0088184
100	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	-0.0025803

C5

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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