SERPINA1

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 secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of fibrinolysis (GO:0051918)7.76342002
2regulation of protein activation cascade (GO:2000257)7.66204693
3regulation of fibrinolysis (GO:0051917)7.56069591
4regulation of complement activation (GO:0030449)7.36669599
5complement activation, alternative pathway (GO:0006957)7.08535970
6protein carboxylation (GO:0018214)6.63901300
7peptidyl-glutamic acid carboxylation (GO:0017187)6.63901300
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.39761906
9L-phenylalanine catabolic process (GO:0006559)6.39761906
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.01467396
11L-phenylalanine metabolic process (GO:0006558)6.01467396
12regulation of cholesterol esterification (GO:0010872)5.88471168
13very-low-density lipoprotein particle assembly (GO:0034379)5.73077736
14epoxygenase P450 pathway (GO:0019373)5.71165431
15blood coagulation, intrinsic pathway (GO:0007597)5.60883997
16plasma lipoprotein particle assembly (GO:0034377)5.51261361
17plasma lipoprotein particle remodeling (GO:0034369)5.42022118
18protein-lipid complex remodeling (GO:0034368)5.42022118
19macromolecular complex remodeling (GO:0034367)5.42022118
20fibrinolysis (GO:0042730)5.39166658
21cholesterol efflux (GO:0033344)5.35371650
22negative regulation of sterol transport (GO:0032372)5.34687690
23negative regulation of cholesterol transport (GO:0032375)5.34687690
24triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.32651613
25high-density lipoprotein particle remodeling (GO:0034375)5.28009155
26phospholipid efflux (GO:0033700)5.27189145
27drug catabolic process (GO:0042737)5.21017988
28regulation of plasminogen activation (GO:0010755)5.12289769
29negative regulation of protein activation cascade (GO:2000258)5.10157263
30glyoxylate metabolic process (GO:0046487)5.08915197
31exogenous drug catabolic process (GO:0042738)5.08431039
32urea metabolic process (GO:0019627)4.98701930
33ethanol oxidation (GO:0006069)4.97869055
34low-density lipoprotein particle remodeling (GO:0034374)4.92131100
35protein-lipid complex assembly (GO:0065005)4.89317429
36protein activation cascade (GO:0072376)4.81520470
37reverse cholesterol transport (GO:0043691)4.78964168
38omega-hydroxylase P450 pathway (GO:0097267)4.71558950
39regulation of humoral immune response (GO:0002920)4.69868565
40* acute-phase response (GO:0006953)4.65452332
41intestinal cholesterol absorption (GO:0030299)4.62411435
42plasma lipoprotein particle organization (GO:0071827)4.61149629
43complement activation, classical pathway (GO:0006958)4.60334171
44regulation of apoptotic cell clearance (GO:2000425)4.52447954
45negative regulation of hemostasis (GO:1900047)4.50608669
46negative regulation of blood coagulation (GO:0030195)4.50608669
47nitrogen cycle metabolic process (GO:0071941)4.48494528
48cellular glucuronidation (GO:0052695)4.47883221
49urea cycle (GO:0000050)4.47605790
50plasma lipoprotein particle clearance (GO:0034381)4.44187784
51complement activation (GO:0006956)4.42688029
52regulation of triglyceride catabolic process (GO:0010896)4.40130030
53positive regulation of lipoprotein lipase activity (GO:0051006)4.37183601
54positive regulation of triglyceride lipase activity (GO:0061365)4.37183601
55protein-lipid complex subunit organization (GO:0071825)4.32823347
56regulation of bile acid biosynthetic process (GO:0070857)4.32652104
57aromatic amino acid family catabolic process (GO:0009074)4.30689106
58uronic acid metabolic process (GO:0006063)4.30305256
59glucuronate metabolic process (GO:0019585)4.30305256
60negative regulation of complement activation (GO:0045916)4.29127665
61triglyceride homeostasis (GO:0070328)4.24732464
62acylglycerol homeostasis (GO:0055090)4.24732464
63positive regulation of blood coagulation (GO:0030194)4.19286278
64positive regulation of hemostasis (GO:1900048)4.19286278
65positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.18512113
66negative regulation of coagulation (GO:0050819)4.16636567
67drug metabolic process (GO:0017144)4.10364588
68bile acid metabolic process (GO:0008206)4.05024678
69ethanol metabolic process (GO:0006067)4.02416449
70negative regulation of wound healing (GO:0061045)4.01794206
71negative regulation of lipase activity (GO:0060192)4.00411080
72bile acid biosynthetic process (GO:0006699)3.89411344
73positive regulation of coagulation (GO:0050820)3.89115938
74phenylpropanoid metabolic process (GO:0009698)3.81524838
75glutamate metabolic process (GO:0006536)3.71436110
76* acute inflammatory response (GO:0002526)3.60096705
77positive regulation of fatty acid biosynthetic process (GO:0045723)3.60081955
78lipoprotein metabolic process (GO:0042157)3.59606240
79cytolysis (GO:0019835)3.57756741
80cholesterol homeostasis (GO:0042632)3.57281246
81regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.56692508
82bile acid and bile salt transport (GO:0015721)3.54842808
83negative regulation of humoral immune response (GO:0002921)3.53285073
84sterol homeostasis (GO:0055092)3.51629680
85serine family amino acid catabolic process (GO:0009071)3.47696140
86intestinal absorption (GO:0050892)3.41365044
87fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.39633379
88sterol transport (GO:0015918)3.37410819
89cholesterol transport (GO:0030301)3.37410819
90positive regulation of lipid catabolic process (GO:0050996)3.37179533
91diacylglycerol metabolic process (GO:0046339)3.36786885
92imidazole-containing compound metabolic process (GO:0052803)3.31832645
93oxidative demethylation (GO:0070989)3.31694060
94killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.28580524
95disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.28580524
96phospholipid homeostasis (GO:0055091)3.25636316
97tyrosine metabolic process (GO:0006570)3.25381688
98regulation of cholesterol homeostasis (GO:2000188)3.25364394
99opsonization (GO:0008228)3.24988494
100regulation of acute inflammatory response (GO:0002673)3.24512440

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.73997378
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.06747019
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.17568267
4EGR1_23403033_ChIP-Seq_LIVER_Mouse5.10390918
5LXR_22158963_ChIP-Seq_LIVER_Mouse4.96124666
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.10926492
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.97919704
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.63731109
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.41777415
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.25260252
11* FOXA2_19822575_ChIP-Seq_HepG2_Human2.96508997
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.57757598
13* HNF4A_19822575_ChIP-Seq_HepG2_Human2.41659653
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.38559024
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.30755509
16TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.91034116
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.87395591
18CDX2_20551321_ChIP-Seq_CACO-2_Human1.67743608
19* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.67495882
20NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.57347388
21GATA4_25053715_ChIP-Seq_YYC3_Human1.56295441
22CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.56076905
23SOX2_27498859_Chip-Seq_STOMACH_Mouse1.43635428
24STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32664573
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28731206
26SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.28266014
27FOXO3_23340844_ChIP-Seq_DLD1_Human1.26234035
28GATA6_25053715_ChIP-Seq_YYC3_Human1.25871986
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.22182369
30CLOCK_20551151_ChIP-Seq_293T_Human1.21383447
31NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.20896124
32RARG_19884340_ChIP-ChIP_MEFs_Mouse1.19149273
33* SOX2_20726797_ChIP-Seq_SW620_Human1.18282919
34FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.15559346
35* LXR_22292898_ChIP-Seq_THP-1_Human1.15521737
36SALL4_18804426_ChIP-ChIP_XEN_Mouse1.14823831
37TRIM28_21343339_ChIP-Seq_HEK293_Human1.13950713
38BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.13379263
39Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.13005798
40STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10958489
41ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.10457475
42TCF4_18268006_ChIP-ChIP_LS174T_Human1.03589499
43IRF8_27001747_Chip-Seq_BMDM_Mouse1.02949918
44* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.02175773
45IRF8_21731497_ChIP-ChIP_J774_Mouse0.99563721
46CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96249624
47RXRA_24833708_ChIP-Seq_LIVER_Mouse0.91897329
48* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.91803244
49GATA1_19941827_ChIP-Seq_MEL_Mouse0.88178674
50MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.87672941
51CDX2_19796622_ChIP-Seq_MESCs_Mouse0.86615811
52ESR1_21235772_ChIP-Seq_MCF-7_Human0.86562131
53NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.86371068
54SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.84260387
55CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.83333607
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.81166644
57GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.81132906
58FOXA1_25552417_ChIP-Seq_VCAP_Human0.80255003
59CEBPB_22108803_ChIP-Seq_LS180_Human0.75945129
60SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.75569997
61PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.73471567
62ESR1_15608294_ChIP-ChIP_MCF-7_Human0.73439967
63HTT_18923047_ChIP-ChIP_STHdh_Human0.73317207
64KAP1_22055183_ChIP-Seq_ESCs_Mouse0.70541980
65GATA2_21666600_ChIP-Seq_HMVEC_Human0.69406846
66CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.69289218
67RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.69271125
68BRD4_27068464_Chip-Seq_AML-cells_Mouse0.69097045
69CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.69047979
70TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.68828107
71DNAJC2_21179169_ChIP-ChIP_NT2_Human0.68715160
72BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.68401673
73SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.67378878
74CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.66801926
75GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.66481573
76PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.66382566
77* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.65978290
78RAC3_21632823_ChIP-Seq_H3396_Human0.65575057
79RACK7_27058665_Chip-Seq_MCF-7_Human0.64482386
80LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.64419158
81GATA1_22025678_ChIP-Seq_K562_Human0.63854071
82PPAR_26484153_Chip-Seq_NCI-H1993_Human0.63589874
83* BCOR_27268052_Chip-Seq_Bcells_Human0.63211363
84BP1_19119308_ChIP-ChIP_Hs578T_Human0.62562742
85SPI1_23127762_ChIP-Seq_K562_Human0.62105244
86TP63_17297297_ChIP-ChIP_HaCaT_Human0.61809122
87TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.60393538
88SOX2_21211035_ChIP-Seq_LN229_Human0.60315767
89NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.60308981
90SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.59671345
91PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.59541648
92P63_26484246_Chip-Seq_KERATINOCYTES_Human0.58763297
93* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.58586783
94GATA1_22383799_ChIP-Seq_G1ME_Mouse0.57689689
95GATA2_22383799_ChIP-Seq_G1ME_Mouse0.57610682
96JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.57422483
97FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.57329334
98NFIB_24661679_ChIP-Seq_LUNG_Mouse0.57307632
99GATA2_19941826_ChIP-Seq_K562_Human0.57252768
100ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.57061246

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.15791199
2MP0005360_urolithiasis6.27185481
3MP0005365_abnormal_bile_salt5.65958832
4MP0005085_abnormal_gallbladder_physiolo5.35971871
5MP0003195_calcinosis4.66233097
6MP0008875_abnormal_xenobiotic_pharmacok3.92405441
7MP0001666_abnormal_nutrient_absorption3.67795156
8MP0010329_abnormal_lipoprotein_level3.40416103
9MP0003252_abnormal_bile_duct3.31861992
10MP0002138_abnormal_hepatobiliary_system3.31778614
11MP0009840_abnormal_foam_cell3.01228419
12MP0003868_abnormal_feces_composition2.81007386
13MP0003191_abnormal_cellular_cholesterol2.40930564
14MP0005332_abnormal_amino_acid2.15658301
15MP0000609_abnormal_liver_physiology1.92134092
16MP0002876_abnormal_thyroid_physiology1.91662150
17MP0004019_abnormal_vitamin_homeostasis1.87667743
18MP0002118_abnormal_lipid_homeostasis1.84898120
19MP0003806_abnormal_nucleotide_metabolis1.80800852
20MP0005451_abnormal_body_composition1.79203433
21MP0005058_abnormal_lysosome_morphology1.57669792
22MP0002132_abnormal_respiratory_system1.57649841
23MP0003122_maternal_imprinting1.54761970
24MP0001764_abnormal_homeostasis1.45949630
25MP0005408_hypopigmentation1.41578437
26MP0003172_abnormal_lysosome_physiology1.37737828
27MP0003436_decreased_susceptibility_to1.35392870
28MP0000604_amyloidosis1.33618986
29MP0005464_abnormal_platelet_physiology1.25614974
30MP0005319_abnormal_enzyme/_coenzyme1.25035468
31MP0009697_abnormal_copulation1.22242600
32MP0008469_abnormal_protein_level1.18461595
33MP0009643_abnormal_urine_homeostasis1.15172505
34MP0009785_altered_susceptibility_to1.10979912
35MP0001915_intracranial_hemorrhage1.08252820
36MP0000598_abnormal_liver_morphology1.06978908
37MP0003183_abnormal_peptide_metabolism1.04073655
38MP0005636_abnormal_mineral_homeostasis1.02432807
39MP0009642_abnormal_blood_homeostasis1.01341952
40MP0002089_abnormal_postnatal_growth/wei1.01316504
41MP0003300_gastrointestinal_ulcer0.96675485
42MP0005584_abnormal_enzyme/coenzyme_acti0.96336453
43MP0010368_abnormal_lymphatic_system0.95129420
44MP0003656_abnormal_erythrocyte_physiolo0.93763410
45MP0003879_abnormal_hair_cell0.91562731
46MP0001661_extended_life_span0.90732927
47MP0003724_increased_susceptibility_to0.90377670
48MP0003690_abnormal_glial_cell0.88646571
49MP0005164_abnormal_response_to0.87897946
50MP0002971_abnormal_brown_adipose0.86850315
51MP0005084_abnormal_gallbladder_morpholo0.85320097
52MP0009763_increased_sensitivity_to0.82571873
53MP0003075_altered_response_to0.82405064
54MP0005376_homeostasis/metabolism_phenot0.82379192
55MP0005025_abnormal_response_to0.81885476
56MP0002419_abnormal_innate_immunity0.81773529
57MP0002078_abnormal_glucose_homeostasis0.81680744
58MP0004883_abnormal_blood_vessel0.80279177
59MP0000685_abnormal_immune_system0.80017677
60MP0005083_abnormal_biliary_tract0.79165194
61MP0003303_peritoneal_inflammation0.77230054
62MP0000566_synostosis0.74248239
63MP0003011_delayed_dark_adaptation0.73418189
64MP0004264_abnormal_extraembryonic_tissu0.70645963
65MP0001845_abnormal_inflammatory_respons0.70535381
66MP0001756_abnormal_urination0.70493208
67MP0005167_abnormal_blood-brain_barrier0.69663730
68MP0010155_abnormal_intestine_physiology0.69407320
69MP0009764_decreased_sensitivity_to0.69217476
70MP0001533_abnormal_skeleton_physiology0.68784949
71MP0006082_CNS_inflammation0.66953238
72MP0005166_decreased_susceptibility_to0.65530989
73MP0005448_abnormal_energy_balance0.64471796
74MP0005023_abnormal_wound_healing0.62749191
75MP0005409_darkened_coat_color0.61736119
76MP0002909_abnormal_adrenal_gland0.60347254
77MP0003329_amyloid_beta_deposits0.59985858
78MP0003123_paternal_imprinting0.58954038
79MP0000249_abnormal_blood_vessel0.58910675
80MP0002168_other_aberrant_phenotype0.58808232
81MP0005220_abnormal_exocrine_pancreas0.56622896
82MP0003638_abnormal_response/metabolism_0.55031524
83MP0006054_spinal_hemorrhage0.54898042
84MP0009115_abnormal_fat_cell0.54852724
85MP0000858_altered_metastatic_potential0.54609085
86MP0009780_abnormal_chondrocyte_physiolo0.54559817
87MP0002136_abnormal_kidney_physiology0.52867238
88MP0003953_abnormal_hormone_level0.51364633
89MP0001790_abnormal_immune_system0.50618437
90MP0005387_immune_system_phenotype0.50618437
91MP0003866_abnormal_defecation0.50389409
92MP0005395_other_phenotype0.49965116
93MP0000920_abnormal_myelination0.49605827
94MP0005334_abnormal_fat_pad0.48227865
95MP0009333_abnormal_splenocyte_physiolog0.47521045
96MP0005670_abnormal_white_adipose0.47148553
97MP0005535_abnormal_body_temperature0.46434898
98MP0000639_abnormal_adrenal_gland0.46230070
99MP0002933_joint_inflammation0.44155926
100MP0002166_altered_tumor_susceptibility0.43611283

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)9.79721838
2Complement deficiency (HP:0004431)7.93177047
3Prolonged partial thromboplastin time (HP:0003645)7.72626093
4Hypobetalipoproteinemia (HP:0003563)7.35719329
5Abnormality of monocarboxylic acid metabolism (HP:0010996)7.04974329
6Abnormality of aromatic amino acid family metabolism (HP:0004338)6.53589278
7Abnormality of complement system (HP:0005339)6.41358897
8Joint hemorrhage (HP:0005261)6.37465455
9Systemic lupus erythematosus (HP:0002725)6.11104766
10Glomerulonephritis (HP:0000099)5.41813067
11Abnormality of the common coagulation pathway (HP:0010990)5.30688336
12Xanthomatosis (HP:0000991)5.14055555
13Recurrent gram-negative bacterial infections (HP:0005420)4.55641930
14Spontaneous abortion (HP:0005268)4.44068077
15Hypolipoproteinemia (HP:0010981)4.38195676
16Conjugated hyperbilirubinemia (HP:0002908)4.20829701
17Hyperlipoproteinemia (HP:0010980)4.02462259
18Gingival bleeding (HP:0000225)3.90350652
19Intrahepatic cholestasis (HP:0001406)3.69277108
20Fat malabsorption (HP:0002630)3.64298076
21Abnormality of glutamine family amino acid metabolism (HP:0010902)3.58535608
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.58120049
23Hemorrhage of the eye (HP:0011885)3.52222261
24Nephritis (HP:0000123)3.41479141
25Purpura (HP:0000979)3.33328157
26Hypercholesterolemia (HP:0003124)3.31208291
27Menorrhagia (HP:0000132)3.29590162
28Vascular calcification (HP:0004934)3.22478604
29Abnormality of pyrimidine metabolism (HP:0004353)3.20204980
30Epidermoid cyst (HP:0200040)2.96317376
31Thrombophlebitis (HP:0004418)2.86078071
32Mitral stenosis (HP:0001718)2.81504055
33Cardiovascular calcification (HP:0011915)2.80372084
34Abnormality of the intrinsic pathway (HP:0010989)2.76334158
35Steatorrhea (HP:0002570)2.74157410
36Acanthocytosis (HP:0001927)2.73821808
37Hypoalphalipoproteinemia (HP:0003233)2.72387690
38Pulmonary embolism (HP:0002204)2.57321920
39Amyloidosis (HP:0011034)2.54426668
40Osteomalacia (HP:0002749)2.53787559
41Rickets (HP:0002748)2.53225181
42Hyperammonemia (HP:0001987)2.44317092
43Generalized aminoaciduria (HP:0002909)2.40080144
44Myocardial infarction (HP:0001658)2.36044901
45Abnormality of proline metabolism (HP:0010907)2.34560718
46Hydroxyprolinuria (HP:0003080)2.34560718
47Arthropathy (HP:0003040)2.29923594
48Joint swelling (HP:0001386)2.27390069
49Hyperglycinemia (HP:0002154)2.24266344
50Epistaxis (HP:0000421)2.24104808
51Hypophosphatemic rickets (HP:0004912)2.17472901
52Orchitis (HP:0100796)2.16512809
53Abnormality of glycine metabolism (HP:0010895)2.13793168
54Abnormality of serine family amino acid metabolism (HP:0010894)2.13793168
55Increased serum ferritin (HP:0003281)2.10829106
56Abnormal tarsal ossification (HP:0008369)2.09584493
57Potter facies (HP:0002009)2.08922547
58Facial shape deformation (HP:0011334)2.08922547
59Gangrene (HP:0100758)2.07646155
60Abnormality of iron homeostasis (HP:0011031)2.04665798
61Retrobulbar optic neuritis (HP:0100654)2.03225763
62Optic neuritis (HP:0100653)2.03225763
63Abnormality of carpal bone ossification (HP:0006257)2.03185674
64Gastrointestinal infarctions (HP:0005244)2.02039005
65Abnormality of nucleobase metabolism (HP:0010932)2.01631985
66Skin nodule (HP:0200036)1.96759657
67Urinary glycosaminoglycan excretion (HP:0003541)1.93720390
68Mucopolysacchariduria (HP:0008155)1.93720390
69Abnormality of transition element cation homeostasis (HP:0011030)1.93372551
70Hyperglycinuria (HP:0003108)1.93150436
71Widely patent fontanelles and sutures (HP:0004492)1.92541272
72Peritonitis (HP:0002586)1.89898404
73Abnormality of urine glucose concentration (HP:0011016)1.89650939
74Glycosuria (HP:0003076)1.89650939
75Flat acetabular roof (HP:0003180)1.87175980
76Delayed CNS myelination (HP:0002188)1.86194239
77Myositis (HP:0100614)1.84847025
78Poikilocytosis (HP:0004447)1.84806480
79Abnormality of mucopolysaccharide metabolism (HP:0011020)1.81998231
80Abnormality of polysaccharide metabolism (HP:0011012)1.81998231
81Abnormality of glycosaminoglycan metabolism (HP:0004371)1.81998231
82Malnutrition (HP:0004395)1.79257158
83Abnormality of methionine metabolism (HP:0010901)1.79162489
84Hypochromic anemia (HP:0001931)1.77749787
85Abnormal gallbladder physiology (HP:0012438)1.77708910
86Cholecystitis (HP:0001082)1.77708910
87Enlarged kidneys (HP:0000105)1.72357002
88Abnormality of vitamin metabolism (HP:0100508)1.71529412
89Gout (HP:0001997)1.71047178
90Abnormality of the Achilles tendon (HP:0005109)1.69518779
91Hyperphosphaturia (HP:0003109)1.69378069
92Hypoglycemic coma (HP:0001325)1.69321724
93Prolonged bleeding time (HP:0003010)1.69161937
94Hypophosphatemia (HP:0002148)1.69135333
95Hyperbilirubinemia (HP:0002904)1.67790380
96Pancreatitis (HP:0001733)1.66409655
97Proximal tubulopathy (HP:0000114)1.65825457
98Eczematoid dermatitis (HP:0000976)1.65557641
99Abnormal enzyme/coenzyme activity (HP:0012379)1.64766067
100Abnormality of alkaline phosphatase activity (HP:0004379)1.63754720

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR46.20916946
2ERN14.81261107
3FGFR33.92678909
4TYK22.68374541
5RIPK12.51366770
6ICK2.01798186
7TRIB31.83343759
8PIK3CA1.79413013
9MAP3K21.69403184
10FGFR21.65695901
11EPHB11.65297109
12ZAP701.60270967
13MAP3K31.60254153
14MAP2K31.53982715
15PDPK11.52033886
16EPHA31.51892131
17RIPK41.43885076
18MAPK111.38806542
19SIK11.38454842
20FGR1.36486572
21MAP3K11.33147430
22PRKAA21.30998512
23PKN21.29272246
24WNK41.29151670
25MAP4K11.23557960
26PDK11.23515770
27GRK61.22822385
28BLK1.21702332
29PTK61.21445601
30LMTK21.17812079
31TGFBR21.17558704
32CDK121.17185637
33KSR21.15592125
34DYRK1B1.14308502
35RET1.13514549
36CSK1.08475371
37IRAK31.06147753
38FGFR11.06035475
39PRKG21.05873848
40JAK11.05423111
41NLK1.04603202
42TAOK11.02779648
43PRPF4B0.99868658
44TBK10.99622175
45MST1R0.97696077
46TNK20.97385515
47IRAK40.95797092
48MAP3K110.94030920
49CSF1R0.92684099
50CDC42BPA0.92535735
51JAK20.92357892
52YES10.88518850
53PRKACG0.88254626
54MAP2K60.83964978
55STK240.82809959
56PIK3CG0.81471255
57PDGFRA0.81373620
58MAP3K60.81129528
59MATK0.81032630
60ERBB20.80466227
61MAP3K120.76425532
62WNK10.74824539
63TYRO30.74676695
64JAK30.74340146
65MAP3K140.71950865
66SIK20.69688023
67FER0.69399603
68ACVR1B0.68913245
69MAP2K40.68568660
70NTRK30.67035399
71SGK30.66859391
72AKT30.65144799
73PRKCZ0.64543807
74IRAK10.62087867
75SGK4940.58935163
76SGK2230.58935163
77MAP3K70.58265652
78LYN0.55655315
79LCK0.52960220
80SYK0.52831742
81SGK10.52482886
82IGF1R0.49052370
83IKBKE0.48714144
84NEK90.47713634
85MARK20.47341036
86EPHA20.47337210
87ITK0.46505135
88CDK60.46437283
89SRC0.45558096
90PDK20.45113606
91PRKAA10.43664012
92HCK0.43581212
93FYN0.43414505
94STK380.41828300
95MAP3K130.40781014
96CAMKK20.40480403
97SGK20.39877682
98FES0.39135518
99DAPK20.38954335
100MAP3K50.37795645

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046104.80347740
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.57984901
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.35227680
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.28720198
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.90016133
6Caffeine metabolism_Homo sapiens_hsa002322.81014999
7Retinol metabolism_Homo sapiens_hsa008302.79231210
8Arginine biosynthesis_Homo sapiens_hsa002202.72875300
9Pentose and glucuronate interconversions_Homo sapiens_hsa000402.69739884
10Chemical carcinogenesis_Homo sapiens_hsa052042.46209217
11Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.43130254
12Fatty acid degradation_Homo sapiens_hsa000712.37595300
13Phenylalanine metabolism_Homo sapiens_hsa003602.31666222
14Staphylococcus aureus infection_Homo sapiens_hsa051502.26295459
15Drug metabolism - other enzymes_Homo sapiens_hsa009832.26136259
16Steroid hormone biosynthesis_Homo sapiens_hsa001402.25909323
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.25328714
18Histidine metabolism_Homo sapiens_hsa003402.17574015
19Tyrosine metabolism_Homo sapiens_hsa003501.93959112
20Cyanoamino acid metabolism_Homo sapiens_hsa004601.90956013
21Fat digestion and absorption_Homo sapiens_hsa049751.87933570
22Bile secretion_Homo sapiens_hsa049761.81482356
23Starch and sucrose metabolism_Homo sapiens_hsa005001.77805200
24PPAR signaling pathway_Homo sapiens_hsa033201.77774765
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.72182930
26Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.65347833
27Butanoate metabolism_Homo sapiens_hsa006501.60099765
28Maturity onset diabetes of the young_Homo sapiens_hsa049501.57894759
29Tryptophan metabolism_Homo sapiens_hsa003801.52934369
30Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.39945136
31Peroxisome_Homo sapiens_hsa041461.27895960
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.25517817
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.23615527
34Linoleic acid metabolism_Homo sapiens_hsa005911.20290762
35Vitamin digestion and absorption_Homo sapiens_hsa049771.18970055
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.17402098
37Prion diseases_Homo sapiens_hsa050201.14697618
38Other glycan degradation_Homo sapiens_hsa005111.13552455
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.12571165
40Vitamin B6 metabolism_Homo sapiens_hsa007501.10451799
41Arginine and proline metabolism_Homo sapiens_hsa003301.06692193
42Fatty acid metabolism_Homo sapiens_hsa012121.00812246
43Arachidonic acid metabolism_Homo sapiens_hsa005900.97295621
44Sulfur metabolism_Homo sapiens_hsa009200.96551762
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.91496625
46ABC transporters_Homo sapiens_hsa020100.90731777
47beta-Alanine metabolism_Homo sapiens_hsa004100.90438573
482-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.89877872
49Biosynthesis of amino acids_Homo sapiens_hsa012300.84475602
50Glycosaminoglycan degradation_Homo sapiens_hsa005310.80558271
51Pertussis_Homo sapiens_hsa051330.79326629
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.78412756
53Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75837731
54Renin-angiotensin system_Homo sapiens_hsa046140.75687953
55Fructose and mannose metabolism_Homo sapiens_hsa000510.73935714
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.71643248
57Carbon metabolism_Homo sapiens_hsa012000.69156517
58Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.69072484
59Pyruvate metabolism_Homo sapiens_hsa006200.67272066
60Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63635270
61Propanoate metabolism_Homo sapiens_hsa006400.62114989
62Glycerolipid metabolism_Homo sapiens_hsa005610.59679004
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.58654065
64Fatty acid biosynthesis_Homo sapiens_hsa000610.58613013
65Galactose metabolism_Homo sapiens_hsa000520.52172451
66Mineral absorption_Homo sapiens_hsa049780.46192601
67Steroid biosynthesis_Homo sapiens_hsa001000.44617926
68Insulin resistance_Homo sapiens_hsa049310.43544609
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43209389
70Sulfur relay system_Homo sapiens_hsa041220.39679166
71Metabolic pathways_Homo sapiens_hsa011000.33903810
72Adipocytokine signaling pathway_Homo sapiens_hsa049200.33241763
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31564018
74Lysine degradation_Homo sapiens_hsa003100.29299603
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27535129
76Fatty acid elongation_Homo sapiens_hsa000620.27211853
77African trypanosomiasis_Homo sapiens_hsa051430.26402048
78Pentose phosphate pathway_Homo sapiens_hsa000300.26161473
79Thyroid hormone synthesis_Homo sapiens_hsa049180.23605695
80Sphingolipid metabolism_Homo sapiens_hsa006000.22962547
81One carbon pool by folate_Homo sapiens_hsa006700.22464787
82Glutathione metabolism_Homo sapiens_hsa004800.22311473
83Glucagon signaling pathway_Homo sapiens_hsa049220.20487236
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.18133274
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.12974638
86N-Glycan biosynthesis_Homo sapiens_hsa005100.11757947
87Lysosome_Homo sapiens_hsa041420.09799489
88Amoebiasis_Homo sapiens_hsa051460.08137465
89Folate biosynthesis_Homo sapiens_hsa007900.08026780
90Protein digestion and absorption_Homo sapiens_hsa049740.07414047
91Leishmaniasis_Homo sapiens_hsa051400.07366311
92Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.01913225
93Nitrogen metabolism_Homo sapiens_hsa009100.01040178
94Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0744731
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0661127
96Ether lipid metabolism_Homo sapiens_hsa00565-0.0509299
97Osteoclast differentiation_Homo sapiens_hsa04380-0.0470337
98Insulin signaling pathway_Homo sapiens_hsa04910-0.0344669
99AMPK signaling pathway_Homo sapiens_hsa04152-0.0281355
100Hepatitis C_Homo sapiens_hsa05160-0.0132004

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