SERPINA3

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 plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of protein activation cascade (GO:2000257)8.55389919
2regulation of complement activation (GO:0030449)8.28730077
3complement activation, alternative pathway (GO:0006957)7.98630498
4negative regulation of fibrinolysis (GO:0051918)7.54919203
5regulation of fibrinolysis (GO:0051917)7.29090015
6peptidyl-glutamic acid carboxylation (GO:0017187)6.77317772
7protein carboxylation (GO:0018214)6.77317772
8L-phenylalanine catabolic process (GO:0006559)6.53988202
9erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.53988202
10intestinal cholesterol absorption (GO:0030299)6.46777433
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.24600138
12L-phenylalanine metabolic process (GO:0006558)6.24600138
13regulation of apoptotic cell clearance (GO:2000425)6.07473530
14blood coagulation, intrinsic pathway (GO:0007597)5.73412389
15negative regulation of protein activation cascade (GO:2000258)5.64032922
16regulation of plasminogen activation (GO:0010755)5.41951902
17* acute-phase response (GO:0006953)5.36415240
18fibrinolysis (GO:0042730)5.29528540
19epoxygenase P450 pathway (GO:0019373)5.16159447
20protein activation cascade (GO:0072376)5.14072313
21exogenous drug catabolic process (GO:0042738)5.12553799
22drug catabolic process (GO:0042737)5.09853341
23complement activation, classical pathway (GO:0006958)5.09017521
24regulation of humoral immune response (GO:0002920)4.95250586
25omega-hydroxylase P450 pathway (GO:0097267)4.93020049
26negative regulation of cholesterol transport (GO:0032375)4.91655493
27negative regulation of sterol transport (GO:0032372)4.91655493
28regulation of cholesterol esterification (GO:0010872)4.91628226
29very-low-density lipoprotein particle assembly (GO:0034379)4.90825699
30triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.89935274
31protein-lipid complex remodeling (GO:0034368)4.79777055
32macromolecular complex remodeling (GO:0034367)4.79777055
33plasma lipoprotein particle remodeling (GO:0034369)4.79777055
34complement activation (GO:0006956)4.76744362
35positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.76382756
36negative regulation of complement activation (GO:0045916)4.68321163
37cholesterol efflux (GO:0033344)4.66099702
38plasma lipoprotein particle assembly (GO:0034377)4.47786174
39low-density lipoprotein particle remodeling (GO:0034374)4.43267512
40opsonization (GO:0008228)4.42010553
41negative regulation of blood coagulation (GO:0030195)4.41987291
42negative regulation of hemostasis (GO:1900047)4.41987291
43glyoxylate metabolic process (GO:0046487)4.37747869
44high-density lipoprotein particle remodeling (GO:0034375)4.29554869
45aromatic amino acid family catabolic process (GO:0009074)4.27010642
46urea metabolic process (GO:0019627)4.20997996
47negative regulation of coagulation (GO:0050819)4.17685377
48cellular glucuronidation (GO:0052695)4.11573143
49reverse cholesterol transport (GO:0043691)4.11413616
50positive regulation of blood coagulation (GO:0030194)4.09974946
51positive regulation of hemostasis (GO:1900048)4.09974946
52* acute inflammatory response (GO:0002526)4.07395359
53protein-lipid complex assembly (GO:0065005)4.05972784
54phospholipid efflux (GO:0033700)4.03118314
55negative regulation of wound healing (GO:0061045)4.01061511
56plasma lipoprotein particle organization (GO:0071827)3.99304342
57positive regulation of triglyceride lipase activity (GO:0061365)3.97995939
58positive regulation of lipoprotein lipase activity (GO:0051006)3.97995939
59uronic acid metabolic process (GO:0006063)3.94067960
60glucuronate metabolic process (GO:0019585)3.94067960
61ethanol oxidation (GO:0006069)3.93750356
62bile acid metabolic process (GO:0008206)3.86155801
63plasma lipoprotein particle clearance (GO:0034381)3.86122571
64positive regulation of extracellular matrix organization (GO:1903055)3.80126962
65glutamate metabolic process (GO:0006536)3.79563719
66protein-lipid complex subunit organization (GO:0071825)3.79435331
67positive regulation of coagulation (GO:0050820)3.78474107
68negative regulation of lipase activity (GO:0060192)3.77975072
69triglyceride homeostasis (GO:0070328)3.77515002
70acylglycerol homeostasis (GO:0055090)3.77515002
71nitrogen cycle metabolic process (GO:0071941)3.72335748
72bile acid biosynthetic process (GO:0006699)3.70939958
73urea cycle (GO:0000050)3.66163890
74intestinal absorption (GO:0050892)3.65918684
75regulation of triglyceride catabolic process (GO:0010896)3.62792816
76cytolysis (GO:0019835)3.61998434
77negative regulation of humoral immune response (GO:0002921)3.58507210
78drug metabolic process (GO:0017144)3.52629893
79sterol transport (GO:0015918)3.50257618
80cholesterol transport (GO:0030301)3.50257618
81regulation of bile acid biosynthetic process (GO:0070857)3.48959930
82serine family amino acid catabolic process (GO:0009071)3.47584048
83tyrosine metabolic process (GO:0006570)3.45817835
84regulation of acute inflammatory response (GO:0002673)3.41950120
85positive regulation of fatty acid biosynthetic process (GO:0045723)3.34425359
86phenylpropanoid metabolic process (GO:0009698)3.28758890
87regulation of cholesterol biosynthetic process (GO:0045540)3.27560919
88regulation of cholesterol homeostasis (GO:2000188)3.27282354
89response to mercury ion (GO:0046689)3.22916855
90imidazole-containing compound metabolic process (GO:0052803)3.20973076
91ethanol metabolic process (GO:0006067)3.20050962
92cholesterol homeostasis (GO:0042632)3.19617660
93oxidative demethylation (GO:0070989)3.18498455
94lipoprotein metabolic process (GO:0042157)3.15873658
95sterol homeostasis (GO:0055092)3.15098112
96killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.10716390
97disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.10716390
98positive regulation of wound healing (GO:0090303)3.08645828
99bile acid and bile salt transport (GO:0015721)3.04353553
100positive regulation of steroid metabolic process (GO:0045940)3.00051023

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.01684472
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.49414447
3LXR_22158963_ChIP-Seq_LIVER_Mouse4.63043578
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.60488931
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.42071753
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.14596386
7NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.73283467
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.34560705
9CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.22596251
10FOXA2_19822575_ChIP-Seq_HepG2_Human3.18124795
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.42986460
12TP63_17297297_ChIP-ChIP_HaCaT_Human2.39333222
13* ESR2_21235772_ChIP-Seq_MCF-7_Human2.39067280
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.38868176
15TRIM28_21343339_ChIP-Seq_HEK293_Human2.32358885
16HNF4A_19822575_ChIP-Seq_HepG2_Human2.26261038
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.21032916
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.13086524
19RARG_19884340_ChIP-ChIP_MEFs_Mouse2.12305321
20HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.12148047
21CLOCK_20551151_ChIP-Seq_293T_Human1.97143055
22TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.84985365
23ESR1_20079471_ChIP-ChIP_T-47D_Human1.67869298
24ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.63566151
25CDX2_20551321_ChIP-Seq_CACO-2_Human1.62973229
26GATA4_25053715_ChIP-Seq_YYC3_Human1.55879833
27ESR1_15608294_ChIP-ChIP_MCF-7_Human1.53365971
28SOX2_27498859_Chip-Seq_STOMACH_Mouse1.51566925
29FOXO3_23340844_ChIP-Seq_DLD1_Human1.48368679
30SOX2_20726797_ChIP-Seq_SW620_Human1.45748567
31* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.43134078
32HIF1A_21447827_ChIP-Seq_MCF-7_Human1.42619704
33FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.42419868
34SALL4_18804426_ChIP-ChIP_XEN_Mouse1.35158055
35TCF4_18268006_ChIP-ChIP_LS174T_Human1.33673134
36GATA6_25053715_ChIP-Seq_YYC3_Human1.33013816
37FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.29397762
38TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28726243
39TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.26060679
40NFIB_24661679_ChIP-Seq_LUNG_Mouse1.22189824
41ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21499531
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21281599
43ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20356834
44BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17125943
45PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15646555
46MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14256718
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.14017278
48CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12813859
49CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.11733610
50TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.07357578
51STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.06177601
52CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01545904
53LXR_22292898_ChIP-Seq_THP-1_Human0.98575438
54* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.98027166
55ZNF263_19887448_ChIP-Seq_K562_Human0.94310485
56NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.93838474
57SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.91404885
58CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.86954430
59GATA3_24758297_ChIP-Seq_MCF-7_Human0.85174564
60EP300_21415370_ChIP-Seq_HL-1_Mouse0.85028956
61FOXA1_25552417_ChIP-Seq_VCAP_Human0.84703259
62SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.84552321
63TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.82017454
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.79830486
65SOX9_24532713_ChIP-Seq_HFSC_Mouse0.79448992
66GATA2_21666600_ChIP-Seq_HMVEC_Human0.78665012
67* RACK7_27058665_Chip-Seq_MCF-7_Human0.78413866
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.77106975
69PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.76803523
70DNAJC2_21179169_ChIP-ChIP_NT2_Human0.76434445
71ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.76004277
72ERG_21242973_ChIP-ChIP_JURKAT_Human0.74966363
73GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.74614387
74SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.74251801
75PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.71838622
76RXRA_24833708_ChIP-Seq_LIVER_Mouse0.71665004
77PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.70841767
78* CJUN_26792858_Chip-Seq_BT549_Human0.70781627
79PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.69346080
80AHR_22903824_ChIP-Seq_MCF-7_Human0.67286013
81* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.66523214
82* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.65242317
83TBX20_22328084_ChIP-Seq_HEART_Mouse0.62366800
84TBX20_22080862_ChIP-Seq_HEART_Mouse0.62366800
85HTT_18923047_ChIP-ChIP_STHdh_Human0.62254274
86STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.62168534
87PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.61725100
88POU5F1_16518401_ChIP-PET_MESCs_Mouse0.61360563
89* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.60049541
90TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.59567596
91SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.59303694
92RUNX1_27514584_Chip-Seq_MCF-7_Human0.58675502
93KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.57933774
94TP53_16413492_ChIP-PET_HCT116_Human0.57757897
95EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.57740684
96SMAD1_18555785_Chip-Seq_ESCs_Mouse0.57672741
97SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.57524060
98WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.57486836
99RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.55780300
100MYC_19915707_ChIP-ChIP_AK7_Human0.55283763

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.55674221
2MP0005365_abnormal_bile_salt6.01078075
3MP0003195_calcinosis5.38968067
4MP0005085_abnormal_gallbladder_physiolo5.07026576
5MP0005360_urolithiasis4.68980231
6MP0001666_abnormal_nutrient_absorption4.64535733
7MP0008875_abnormal_xenobiotic_pharmacok4.24881183
8MP0002138_abnormal_hepatobiliary_system3.65146395
9MP0003868_abnormal_feces_composition3.51429208
10MP0003252_abnormal_bile_duct3.36197074
11MP0010329_abnormal_lipoprotein_level3.13238943
12MP0009840_abnormal_foam_cell2.96615283
13MP0002876_abnormal_thyroid_physiology2.15976749
14MP0003011_delayed_dark_adaptation2.09540715
15MP0003122_maternal_imprinting2.03162333
16MP0010368_abnormal_lymphatic_system1.92435619
17MP0005332_abnormal_amino_acid1.91147617
18MP0002118_abnormal_lipid_homeostasis1.77020809
19MP0000609_abnormal_liver_physiology1.68517266
20MP0005408_hypopigmentation1.65864108
21MP0002089_abnormal_postnatal_growth/wei1.64708859
22MP0002132_abnormal_respiratory_system1.61116257
23MP0003191_abnormal_cellular_cholesterol1.58658780
24MP0001915_intracranial_hemorrhage1.50235162
25MP0004019_abnormal_vitamin_homeostasis1.49233297
26MP0000566_synostosis1.37004915
27MP0003300_gastrointestinal_ulcer1.32507565
28MP0005670_abnormal_white_adipose1.30210330
29MP0005058_abnormal_lysosome_morphology1.29514949
30MP0005083_abnormal_biliary_tract1.25878975
31MP0004272_abnormal_basement_membrane1.24918271
32MP0005023_abnormal_wound_healing1.24475718
33MP0001661_extended_life_span1.18790501
34MP0000604_amyloidosis1.17061894
35MP0003690_abnormal_glial_cell1.15793680
36MP0009780_abnormal_chondrocyte_physiolo1.15545071
37MP0003566_abnormal_cell_adhesion1.11703967
38MP0009643_abnormal_urine_homeostasis1.04994124
39MP0005319_abnormal_enzyme/_coenzyme1.04273109
40MP0005409_darkened_coat_color1.01407959
41MP0005220_abnormal_exocrine_pancreas1.00828925
42MP0000598_abnormal_liver_morphology1.00609222
43MP0005167_abnormal_blood-brain_barrier0.98029471
44MP0005451_abnormal_body_composition0.96209458
45MP0003123_paternal_imprinting0.92747787
46MP0003329_amyloid_beta_deposits0.91107924
47MP0005636_abnormal_mineral_homeostasis0.89418045
48MP0001756_abnormal_urination0.89282188
49MP0001764_abnormal_homeostasis0.86918570
50MP0003656_abnormal_erythrocyte_physiolo0.86775186
51MP0002168_other_aberrant_phenotype0.82416954
52MP0000920_abnormal_myelination0.82347915
53MP0009642_abnormal_blood_homeostasis0.80477704
54MP0003172_abnormal_lysosome_physiology0.80071180
55MP0010386_abnormal_urinary_bladder0.78866931
56MP0002909_abnormal_adrenal_gland0.78491867
57MP0006054_spinal_hemorrhage0.78162819
58MP0002971_abnormal_brown_adipose0.77788565
59MP0005164_abnormal_response_to0.74078467
60MP0009697_abnormal_copulation0.72098001
61MP0004264_abnormal_extraembryonic_tissu0.72045823
62MP0002078_abnormal_glucose_homeostasis0.71990216
63MP0005584_abnormal_enzyme/coenzyme_acti0.69737138
64MP0002933_joint_inflammation0.65267518
65MP0003879_abnormal_hair_cell0.64878500
66MP0005448_abnormal_energy_balance0.64720386
67MP0008469_abnormal_protein_level0.64694407
68MP0000639_abnormal_adrenal_gland0.64175576
69MP0003075_altered_response_to0.63898904
70MP0005084_abnormal_gallbladder_morpholo0.61961684
71MP0008438_abnormal_cutaneous_collagen0.60345648
72MP0002282_abnormal_trachea_morphology0.59914444
73MP0005257_abnormal_intraocular_pressure0.58646332
74MP0009763_increased_sensitivity_to0.55827021
75MP0005464_abnormal_platelet_physiology0.55789473
76MP0005076_abnormal_cell_differentiation0.55281517
77MP0000249_abnormal_blood_vessel0.55010745
78MP0003950_abnormal_plasma_membrane0.54773441
79MP0005376_homeostasis/metabolism_phenot0.54306982
80MP0005395_other_phenotype0.53436507
81MP0003953_abnormal_hormone_level0.53172842
82MP0004043_abnormal_pH_regulation0.52938414
83MP0003806_abnormal_nucleotide_metabolis0.51697191
84MP0003638_abnormal_response/metabolism_0.51480066
85MP0000003_abnormal_adipose_tissue0.50092976
86MP0003632_abnormal_nervous_system0.49073292
87MP0009115_abnormal_fat_cell0.45123353
88MP0005166_decreased_susceptibility_to0.44877988
89MP0005334_abnormal_fat_pad0.44833091
90MP0004883_abnormal_blood_vessel0.43958808
91MP0001270_distended_abdomen0.43639955
92MP0002136_abnormal_kidney_physiology0.43297075
93MP0003943_abnormal_hepatobiliary_system0.43210124
94MP0002249_abnormal_larynx_morphology0.42180197
95MP0003633_abnormal_nervous_system0.41405192
96MP0009384_cardiac_valve_regurgitation0.40041018
97MP0000767_abnormal_smooth_muscle0.38047297
98MP0001324_abnormal_eye_pigmentation0.37240124
99MP0002128_abnormal_blood_circulation0.37076650
100MP0005379_endocrine/exocrine_gland_phen0.36976455

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)9.35617301
2Prolonged partial thromboplastin time (HP:0003645)7.85351931
3Abnormality of complement system (HP:0005339)7.33223990
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.49934605
5Glomerulonephritis (HP:0000099)6.28590521
6Hypobetalipoproteinemia (HP:0003563)6.22284250
7Abnormality of aromatic amino acid family metabolism (HP:0004338)6.11070557
8Joint hemorrhage (HP:0005261)6.07233738
9Systemic lupus erythematosus (HP:0002725)6.06049551
10Abnormality of the common coagulation pathway (HP:0010990)5.16317857
11Fat malabsorption (HP:0002630)4.87758897
12Xanthomatosis (HP:0000991)4.71473290
13Spontaneous abortion (HP:0005268)4.70227259
14Conjugated hyperbilirubinemia (HP:0002908)4.52858736
15Steatorrhea (HP:0002570)4.46458414
16Intrahepatic cholestasis (HP:0001406)3.98722169
17Nephritis (HP:0000123)3.94576348
18Hypolipoproteinemia (HP:0010981)3.79305650
19Hyperlipoproteinemia (HP:0010980)3.67796912
20Recurrent gram-negative bacterial infections (HP:0005420)3.47643239
21Vascular calcification (HP:0004934)3.34961827
22Hypercholesterolemia (HP:0003124)3.33000991
23Abnormality of the intrinsic pathway (HP:0010989)3.27108594
24Menorrhagia (HP:0000132)3.14538067
25Mitral stenosis (HP:0001718)3.13900465
26Gingival bleeding (HP:0000225)3.12378213
27Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.02502366
28Hemorrhage of the eye (HP:0011885)3.01255848
29Cardiovascular calcification (HP:0011915)2.93579541
30Hypoalphalipoproteinemia (HP:0003233)2.82162775
31Purpura (HP:0000979)2.77605856
32Epidermoid cyst (HP:0200040)2.76500364
33Exocrine pancreatic insufficiency (HP:0001738)2.69909720
34Hepatocellular carcinoma (HP:0001402)2.66210454
35Abnormality of carpal bone ossification (HP:0006257)2.65706722
36Small epiphyses (HP:0010585)2.56691101
37Abnormality of glutamine family amino acid metabolism (HP:0010902)2.56575327
38Flat acetabular roof (HP:0003180)2.46237376
39Abnormality of pyrimidine metabolism (HP:0004353)2.45611168
40Gout (HP:0001997)2.44297776
41Arthropathy (HP:0003040)2.37230829
42Abnormal tarsal ossification (HP:0008369)2.33683002
43Thrombophlebitis (HP:0004418)2.32784712
44Hydroxyprolinuria (HP:0003080)2.14344119
45Abnormality of proline metabolism (HP:0010907)2.14344119
46Rickets (HP:0002748)2.10560942
47Amyloidosis (HP:0011034)2.07620901
48Abnormal hand bone ossification (HP:0010660)2.02896890
49Deep venous thrombosis (HP:0002625)10.1392120
50Myocardial infarction (HP:0001658)1.99375133
51Osteomalacia (HP:0002749)1.99214935
52Potter facies (HP:0002009)1.98223599
53Facial shape deformation (HP:0011334)1.98223599
54Skin nodule (HP:0200036)1.97330833
55Epiphyseal dysplasia (HP:0002656)1.97037036
56Abnormal ossification of hand bones (HP:0005921)1.96935222
57Abnormality of the Achilles tendon (HP:0005109)1.96104388
58Joint swelling (HP:0001386)1.92567905
59Pancreatitis (HP:0001733)1.91871366
60Hyperammonemia (HP:0001987)1.91608971
61Acanthocytosis (HP:0001927)1.90735515
62Generalized aminoaciduria (HP:0002909)1.87658869
63Hypoglycemic coma (HP:0001325)1.86541304
64Abnormality of methionine metabolism (HP:0010901)1.85843229
65Enlarged kidneys (HP:0000105)1.85337087
66Increased serum pyruvate (HP:0003542)1.84733127
67Abnormality of the nasal septum (HP:0000419)1.82622012
68Abnormal delivery (HP:0001787)1.81654092
69Abnormality of nucleobase metabolism (HP:0010932)1.80794448
70Hypophosphatemic rickets (HP:0004912)1.78093230
71Pulmonary embolism (HP:0002204)1.76904528
72Esophageal varix (HP:0002040)1.73641353
73Neonatal death (HP:0003811)1.71758249
74Protrusio acetabuli (HP:0003179)1.67870326
75Back pain (HP:0003418)1.67327820
76Arterial tortuosity (HP:0005116)1.67212204
77Hyperglycinemia (HP:0002154)1.67055114
78Abnormality of glycolysis (HP:0004366)1.66795920
79Abnormal gallbladder physiology (HP:0012438)1.63422550
80Cholecystitis (HP:0001082)1.63422550
81Late onset (HP:0003584)1.61990490
82Urinary glycosaminoglycan excretion (HP:0003541)1.61300065
83Mucopolysacchariduria (HP:0008155)1.61300065
84Pancreatic islet-cell hyperplasia (HP:0004510)1.60802378
85Epistaxis (HP:0000421)1.55777019
86Hypoplasia of the capital femoral epiphysis (HP:0003090)1.55198172
87Abnormality of serine family amino acid metabolism (HP:0010894)1.55167877
88Abnormality of glycine metabolism (HP:0010895)1.55167877
89Asymmetry of the thorax (HP:0001555)1.52811725
90Delayed CNS myelination (HP:0002188)1.51192067
91Abnormality of purine metabolism (HP:0004352)1.51086785
92Coxa vara (HP:0002812)1.49772676
93Bifid scrotum (HP:0000048)1.49306801
94Alacrima (HP:0000522)1.48373736
95Glomerulosclerosis (HP:0000096)1.47568030
96Right ventricular cardiomyopathy (HP:0011663)1.47363519
97Retinal atrophy (HP:0001105)1.46090492
98Bronchomalacia (HP:0002780)1.45957270
99Vascular tortuosity (HP:0004948)1.45655613
100Increased serum ferritin (HP:0003281)1.45337023

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR45.44716614
2LMTK25.33602738
3FGFR33.55134656
4ERN13.31847301
5RIPK13.25906354
6PIK3CA2.67243207
7ICK2.64777655
8TRIB32.35869189
9EPHA32.27336270
10EPHA22.18133052
11PDGFRA2.10782331
12MAPKAPK31.92605852
13SIK11.80699503
14PKN21.78886123
15WNK41.65723798
16STK391.59939283
17TGFBR21.53375662
18CDK121.51981488
19EPHB11.50170260
20TYRO31.41504344
21AKT31.39444920
22LATS21.37734861
23FGFR21.30955698
24MAP3K31.29001096
25MAP3K21.23637156
26FER1.22563006
27NTRK31.22542491
28FGFR11.21498722
29RET1.18987897
30STK241.15250956
31NLK1.11775130
32PRKAA21.08920720
33PDGFRB1.03980498
34STK38L1.02047031
35PTK21.01992560
36PDPK11.01816908
37MAP3K61.00143193
38SGK4940.98429591
39SGK2230.98429591
40ERBB20.97513945
41MST1R0.96621641
42WNK10.95864751
43TYK20.94721715
44DDR20.94302805
45LATS10.91349740
46EEF2K0.90031340
47PRKG20.88290470
48MAP3K120.87644539
49SGK30.85527028
50ZAP700.83237467
51MAPK110.83213581
52MET0.82397916
53NTRK10.82278304
54IRAK30.81255077
55STK380.76624592
56MAP3K70.75353921
57CDC42BPA0.74850880
58MAP3K10.71758788
59PDK20.70203094
60NEK60.69689438
61ERBB40.66201469
62SGK20.65658242
63PDK10.65620529
64PRKACG0.65528811
65JAK10.64763206
66SGK10.59674917
67NEK90.59202917
68PRKAA10.57836054
69MTOR0.57429719
70GRK10.55784817
71PTK60.55436783
72IGF1R0.53048735
73TRPM70.46295319
74MAP3K90.44543374
75SRC0.43091283
76HIPK20.42941732
77MYLK0.41773756
78CSNK1D0.37941136
79CSNK1E0.37832707
80IRAK10.37304088
81DYRK1B0.37140509
82ROCK10.36524645
83MARK20.36186317
84PRKG10.35225328
85INSRR0.34680682
86SIK20.33614657
87PRKCG0.32532087
88GSK3A0.31008361
89TBK10.30684084
90EIF2AK10.30657640
91PRKCZ0.29926736
92PRKD10.29726063
93MUSK0.29379423
94RPS6KB10.29278709
95FLT30.28908194
96FGR0.28881907
97SCYL20.28267376
98PAK40.26844196
99MAP3K140.26347379
100EPHA40.24979153

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046105.34851954
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.08709270
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.04887469
4Primary bile acid biosynthesis_Homo sapiens_hsa001203.04814002
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.76467601
6Retinol metabolism_Homo sapiens_hsa008302.64121823
7Caffeine metabolism_Homo sapiens_hsa002322.57744637
8Phenylalanine metabolism_Homo sapiens_hsa003602.42768751
9Pentose and glucuronate interconversions_Homo sapiens_hsa000402.38802632
10Arginine biosynthesis_Homo sapiens_hsa002202.35793337
11Fat digestion and absorption_Homo sapiens_hsa049752.27614833
12Chemical carcinogenesis_Homo sapiens_hsa052042.26096602
13Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.25120195
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.17870773
15Steroid hormone biosynthesis_Homo sapiens_hsa001402.16032203
16Fatty acid degradation_Homo sapiens_hsa000712.15581651
17Histidine metabolism_Homo sapiens_hsa003402.11539448
18Bile secretion_Homo sapiens_hsa049762.09815942
19Tyrosine metabolism_Homo sapiens_hsa003501.96940551
20Cyanoamino acid metabolism_Homo sapiens_hsa004601.88909048
21Drug metabolism - other enzymes_Homo sapiens_hsa009831.79767106
22Staphylococcus aureus infection_Homo sapiens_hsa051501.78916312
23Vitamin B6 metabolism_Homo sapiens_hsa007501.70159289
24Starch and sucrose metabolism_Homo sapiens_hsa005001.67630545
25PPAR signaling pathway_Homo sapiens_hsa033201.65896713
26Butanoate metabolism_Homo sapiens_hsa006501.64467359
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.57867936
28Prion diseases_Homo sapiens_hsa050201.48173290
29Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.45767411
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.45754636
31Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.40710172
32Maturity onset diabetes of the young_Homo sapiens_hsa049501.38783611
33Tryptophan metabolism_Homo sapiens_hsa003801.36061801
34Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.35960152
35Linoleic acid metabolism_Homo sapiens_hsa005911.23235007
36Pancreatic secretion_Homo sapiens_hsa049721.20198886
37ABC transporters_Homo sapiens_hsa020101.16525261
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.08351384
39Peroxisome_Homo sapiens_hsa041461.06675766
40Vitamin digestion and absorption_Homo sapiens_hsa049771.06395353
41Arginine and proline metabolism_Homo sapiens_hsa003301.05564132
42beta-Alanine metabolism_Homo sapiens_hsa004101.05222148
43Fatty acid metabolism_Homo sapiens_hsa012121.04894454
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.98105153
45Protein digestion and absorption_Homo sapiens_hsa049740.96565626
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.95958192
47Biosynthesis of amino acids_Homo sapiens_hsa012300.94289027
48Arachidonic acid metabolism_Homo sapiens_hsa005900.93865827
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90991889
50Fatty acid biosynthesis_Homo sapiens_hsa000610.88754902
51Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.86967829
52Steroid biosynthesis_Homo sapiens_hsa001000.83226496
53Glycosaminoglycan degradation_Homo sapiens_hsa005310.79763754
54Glycerolipid metabolism_Homo sapiens_hsa005610.77708639
55Cysteine and methionine metabolism_Homo sapiens_hsa002700.71198138
56Pyruvate metabolism_Homo sapiens_hsa006200.71057572
57Other glycan degradation_Homo sapiens_hsa005110.70778732
58Propanoate metabolism_Homo sapiens_hsa006400.70567105
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67367677
60Pertussis_Homo sapiens_hsa051330.66238947
61Sulfur metabolism_Homo sapiens_hsa009200.65869636
62Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63835093
63Carbon metabolism_Homo sapiens_hsa012000.61734681
64Thyroid hormone synthesis_Homo sapiens_hsa049180.61554560
65Lysine degradation_Homo sapiens_hsa003100.46564718
66Insulin resistance_Homo sapiens_hsa049310.45311151
67Renin-angiotensin system_Homo sapiens_hsa046140.44702157
68Fructose and mannose metabolism_Homo sapiens_hsa000510.41492382
69ECM-receptor interaction_Homo sapiens_hsa045120.40074510
70Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.39294281
71Galactose metabolism_Homo sapiens_hsa000520.38934556
72Mineral absorption_Homo sapiens_hsa049780.37091482
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.37055054
74One carbon pool by folate_Homo sapiens_hsa006700.32250801
75Metabolic pathways_Homo sapiens_hsa011000.30935703
76Glucagon signaling pathway_Homo sapiens_hsa049220.29969990
77N-Glycan biosynthesis_Homo sapiens_hsa005100.29663597
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29637813
79Fatty acid elongation_Homo sapiens_hsa000620.28347422
80Sulfur relay system_Homo sapiens_hsa041220.22670842
81Glutathione metabolism_Homo sapiens_hsa004800.22323701
82Amoebiasis_Homo sapiens_hsa051460.22261662
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.21703825
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.21382195
85Circadian rhythm_Homo sapiens_hsa047100.19487144
86Sphingolipid metabolism_Homo sapiens_hsa006000.18197119
87AMPK signaling pathway_Homo sapiens_hsa041520.16503021
88Pentose phosphate pathway_Homo sapiens_hsa000300.15244305
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.11690677
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.08852307
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.05913160
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.04403496
93Insulin signaling pathway_Homo sapiens_hsa049100.04224388
94Vibrio cholerae infection_Homo sapiens_hsa051100.04049908
95Hepatitis C_Homo sapiens_hsa051600.03539816
96Tight junction_Homo sapiens_hsa045300.01719428
97Nitrogen metabolism_Homo sapiens_hsa009100.00861362
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.00175676
99Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0284908
100Lysosome_Homo sapiens_hsa04142-0.0246913

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