SERPINB6

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 member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of metalloenzyme activity (GO:0048552)4.04800302
2COPI coating of Golgi vesicle (GO:0048205)3.70026967
3Golgi transport vesicle coating (GO:0048200)3.70026967
4angiotensin maturation (GO:0002003)3.52507333
5endothelium development (GO:0003158)3.51494986
6barbed-end actin filament capping (GO:0051016)3.44852927
7NADH metabolic process (GO:0006734)3.36775496
8pinocytosis (GO:0006907)3.36108275
9peptide catabolic process (GO:0043171)3.33846941
10fibril organization (GO:0097435)3.27250938
11negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.24819351
12protein maturation by protein folding (GO:0022417)3.17875505
13extracellular fibril organization (GO:0043206)3.16842310
14cyclooxygenase pathway (GO:0019371)3.15100024
15glycosphingolipid catabolic process (GO:0046479)3.08435754
16fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.03307947
17glycolipid catabolic process (GO:0019377)2.99362512
18response to thyroid hormone (GO:0097066)2.96044004
19cellular response to thyroid hormone stimulus (GO:0097067)2.92419234
20negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.86700448
21neutrophil activation involved in immune response (GO:0002283)2.86491898
22regulation of integrin-mediated signaling pathway (GO:2001044)2.84642998
23adhesion of symbiont to host cell (GO:0044650)2.84447846
24virion attachment to host cell (GO:0019062)2.84447846
25negative regulation of nitric oxide biosynthetic process (GO:0045019)2.83133251
26thrombin receptor signaling pathway (GO:0070493)2.79633909
27protein retention in ER lumen (GO:0006621)2.79276924
28positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.78521177
29maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.73874601
30negative regulation of erythrocyte differentiation (GO:0045647)2.71035891
31adhesion of symbiont to host (GO:0044406)2.67330126
32hydrogen peroxide catabolic process (GO:0042744)2.63227309
33pentose-phosphate shunt (GO:0006098)2.61971673
34renal filtration (GO:0097205)2.51600154
35negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.51098135
36angiogenesis involved in wound healing (GO:0060055)2.50713055
37hyaluronan catabolic process (GO:0030214)2.48553315
38ceramide catabolic process (GO:0046514)2.46999421
39glucose catabolic process (GO:0006007)2.46765704
40glomerular filtration (GO:0003094)2.45723762
41autophagic vacuole fusion (GO:0000046)2.45696583
42fructose metabolic process (GO:0006000)2.44479220
43L-ascorbic acid metabolic process (GO:0019852)2.43549034
44nucleoside diphosphate biosynthetic process (GO:0009133)2.39811496
45keratan sulfate catabolic process (GO:0042340)2.37072645
46oxaloacetate metabolic process (GO:0006107)2.36710323
47oligosaccharide catabolic process (GO:0009313)2.36356752
48definitive hemopoiesis (GO:0060216)2.30225238
49positive regulation of pseudopodium assembly (GO:0031274)2.28730576
50GDP-mannose metabolic process (GO:0019673)2.27144312
51transcytosis (GO:0045056)2.26299754
52response to interferon-beta (GO:0035456)2.25632643
53positive regulation of Cdc42 GTPase activity (GO:0043089)2.25449312
54response to peptidoglycan (GO:0032494)2.25357392
55UV protection (GO:0009650)2.24808081
56NADPH regeneration (GO:0006740)2.24751894
57endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.24527721
58negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.24397443
59negative regulation of protein localization to plasma membrane (GO:1903077)2.23818270
60negative regulation of humoral immune response (GO:0002921)2.23345452
61apoptotic cell clearance (GO:0043277)2.21852202
62regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.21708793
63regulation of superoxide anion generation (GO:0032928)2.21672381
64xenobiotic catabolic process (GO:0042178)2.21615345
65glycoside metabolic process (GO:0016137)2.21152783
66glutathione biosynthetic process (GO:0006750)2.20344215
67regulation of necrotic cell death (GO:0010939)2.19886640
68mature B cell differentiation involved in immune response (GO:0002313)2.18939550
69regulation of cellular extravasation (GO:0002691)2.17814459
70proline biosynthetic process (GO:0006561)2.16271321
71glutathione derivative biosynthetic process (GO:1901687)2.16261232
72glutathione derivative metabolic process (GO:1901685)2.16261232
73phagocytosis, engulfment (GO:0006911)2.15299806
74peptidyl-proline hydroxylation (GO:0019511)2.15122508
75hydrogen peroxide metabolic process (GO:0042743)2.14469736
76negative regulation of complement activation (GO:0045916)2.13817349
77cell volume homeostasis (GO:0006884)2.13147364
78regulation of pseudopodium assembly (GO:0031272)2.12362047
79immunoglobulin mediated immune response (GO:0016064)2.12253560
80positive regulation of receptor recycling (GO:0001921)2.11588949
81regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.11039570
82tricarboxylic acid metabolic process (GO:0072350)2.10920257
83sphingolipid catabolic process (GO:0030149)2.10069876
84ethanol oxidation (GO:0006069)2.09237428
85actin filament depolymerization (GO:0030042)2.08988112
86membrane lipid catabolic process (GO:0046466)2.07903292
87positive regulation of odontogenesis (GO:0042482)2.07785746
88regulation of membrane protein ectodomain proteolysis (GO:0051043)2.07647257
89regulation of extracellular matrix disassembly (GO:0010715)2.07579021
90nonribosomal peptide biosynthetic process (GO:0019184)2.06185741
91hypotonic response (GO:0006971)2.05518957
92positive regulation of reactive oxygen species metabolic process (GO:2000379)2.05087888
93cellular response to cadmium ion (GO:0071276)2.04630200
94regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.04565501
95glutathione metabolic process (GO:0006749)2.04488940
96vascular endothelial growth factor signaling pathway (GO:0038084)2.04352701
97ethanol metabolic process (GO:0006067)2.04281796
98arachidonic acid metabolic process (GO:0019369)2.04129251
99membrane invagination (GO:0010324)2.03797706
100positive regulation of fatty acid biosynthetic process (GO:0045723)2.03448369

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RARG_19884340_ChIP-ChIP_MEFs_Mouse3.23009451
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.20885155
3IRF8_22096565_ChIP-ChIP_GC-B_Human2.86291558
4BP1_19119308_ChIP-ChIP_Hs578T_Human2.72902445
5NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.70030159
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.57681447
7ZNF263_19887448_ChIP-Seq_K562_Human2.43884470
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.30320581
9GATA2_21666600_ChIP-Seq_HMVEC_Human2.13668862
10ELK3_25401928_ChIP-Seq_HUVEC_Human2.13044665
11* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.09607029
12RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.98902418
13TRIM28_21343339_ChIP-Seq_HEK293_Human1.96795861
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96287913
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.95449253
16CLOCK_20551151_ChIP-Seq_293T_Human1.92869141
17LXR_22292898_ChIP-Seq_THP-1_Human1.92257519
18RXR_22158963_ChIP-Seq_LIVER_Mouse1.89816907
19RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.73889073
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.73870506
21PPARA_22158963_ChIP-Seq_LIVER_Mouse1.73096376
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72435141
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.69018829
24RACK7_27058665_Chip-Seq_MCF-7_Human1.68900675
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.62211766
26TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.59183995
27PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.57150667
28MYB_21317192_ChIP-Seq_ERMYB_Mouse1.56595946
29MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.52214335
30SPI1_23127762_ChIP-Seq_K562_Human1.52116469
31SOX2_27498859_Chip-Seq_STOMACH_Mouse1.50078799
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.49503422
33GATA1_19941826_ChIP-Seq_K562_Human1.49255919
34SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.47548314
35SOX2_20726797_ChIP-Seq_SW620_Human1.47201522
36KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.47031563
37VDR_21846776_ChIP-Seq_THP-1_Human1.46574254
38GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.46270829
39RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.44910244
40VDR_24763502_ChIP-Seq_THP-1_Human1.44324565
41LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.43891718
42SCL_19346495_ChIP-Seq_HPC-7_Human1.43603158
43KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.42740736
44CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.39685205
45Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.38224768
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.36979894
47RUNX1_22412390_ChIP-Seq_EML_Mouse1.36862078
48LXR_22158963_ChIP-Seq_LIVER_Mouse1.36214297
49EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.36210135
50GATA1_22383799_ChIP-Seq_G1ME_Mouse1.35670573
51CDX2_20551321_ChIP-Seq_CACO-2_Human1.34331227
52NCOR1_26117541_ChIP-Seq_K562_Human1.33992471
53LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.30726737
54EGR1_19374776_ChIP-ChIP_THP-1_Human1.29974804
55SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.29731815
56PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25378744
57IRF8_21731497_ChIP-ChIP_J774_Mouse1.24186399
58NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.24121038
59P63_26484246_Chip-Seq_KERATINOCYTES_Human1.20284350
60STAT1_20625510_ChIP-Seq_HELA_Human1.20277565
61TET1_21451524_ChIP-Seq_MESCs_Mouse1.20260473
62IRF8_27001747_Chip-Seq_BMDM_Mouse1.20068823
63* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.19904655
64MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.18864559
65BRD4_27068464_Chip-Seq_AML-cells_Mouse1.18844772
66* BCOR_27268052_Chip-Seq_Bcells_Human1.18779230
67GATA1_19941827_ChIP-Seq_MEL_Mouse1.18119291
68TP63_17297297_ChIP-ChIP_HaCaT_Human1.18070758
69* BCL6_27268052_Chip-Seq_Bcells_Human1.17947728
70ELF1_20517297_ChIP-Seq_JURKAT_Human1.17003458
71ATF3_27146783_Chip-Seq_COLON_Human1.16043231
72ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15386462
73SPI1_23547873_ChIP-Seq_NB4_Human1.15021900
74HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13715357
75HIF1A_21447827_ChIP-Seq_MCF-7_Human1.13243304
76GATA4_25053715_ChIP-Seq_YYC3_Human1.12582001
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12023265
78STAT3_1855785_ChIP-Seq_MESCs_Mouse1.11309081
79FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.10319103
80ELF1_17652178_ChIP-ChIP_JURKAT_Human1.10019721
81* GATA2_19941826_ChIP-Seq_K562_Human1.08836684
82SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.08443323
83* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08042436
84STAT4_19710469_ChIP-ChIP_TH1__Mouse1.06654342
85GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06267167
86PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.05971868
87TBX20_22328084_ChIP-Seq_HEART_Mouse1.05351557
88TBX20_22080862_ChIP-Seq_HEART_Mouse1.05351557
89TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04801693
90PPAR_26484153_Chip-Seq_NCI-H1993_Human1.04009188
91SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03818968
92CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02376014
93GATA6_25053715_ChIP-Seq_YYC3_Human1.01397730
94* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01083808
95SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00574114
96SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.00367837
97SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.00367837
98SRY_22984422_ChIP-ChIP_TESTIS_Rat1.00233655
99SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.00143408
100CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.99813920

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology3.42703111
2MP0009840_abnormal_foam_cell3.06083461
3MP0003191_abnormal_cellular_cholesterol2.69994315
4MP0003806_abnormal_nucleotide_metabolis2.61995328
5MP0008438_abnormal_cutaneous_collagen2.57440372
6MP0006054_spinal_hemorrhage2.45507793
7MP0005464_abnormal_platelet_physiology2.38163700
8MP0005165_increased_susceptibility_to2.26636618
9MP0005360_urolithiasis2.20905880
10MP0003075_altered_response_to1.99131256
11MP0002139_abnormal_hepatobiliary_system1.91885955
12MP0003279_aneurysm1.84812922
13MP0008004_abnormal_stomach_pH1.83866022
14MP0005451_abnormal_body_composition1.81594365
15MP0003436_decreased_susceptibility_to1.81166313
16MP0003724_increased_susceptibility_to1.80031185
17MP0000343_altered_response_to1.78829321
18MP0000465_gastrointestinal_hemorrhage1.69694466
19MP0010155_abnormal_intestine_physiology1.69073099
20MP0010368_abnormal_lymphatic_system1.68776102
21MP0003303_peritoneal_inflammation1.67504850
22MP0002148_abnormal_hypersensitivity_rea1.64144514
23MP0005365_abnormal_bile_salt1.58397894
24MP0004272_abnormal_basement_membrane1.52651763
25MP0003566_abnormal_cell_adhesion1.52125967
26MP0005166_decreased_susceptibility_to1.49064440
27MP0001533_abnormal_skeleton_physiology1.48028783
28MP0001545_abnormal_hematopoietic_system1.46186926
29MP0005397_hematopoietic_system_phenotyp1.46186926
30MP0003828_pulmonary_edema1.44060899
31MP0005023_abnormal_wound_healing1.43956739
32MP0003705_abnormal_hypodermis_morpholog1.43617372
33MP0009780_abnormal_chondrocyte_physiolo1.39142678
34MP0001835_abnormal_antigen_presentation1.38925748
35MP0005670_abnormal_white_adipose1.38718811
36MP0003172_abnormal_lysosome_physiology1.37313874
37MP0010234_abnormal_vibrissa_follicle1.36456683
38MP0006082_CNS_inflammation1.35510886
39MP0000013_abnormal_adipose_tissue1.32137940
40MP0003186_abnormal_redox_activity1.31497370
41MP0003950_abnormal_plasma_membrane1.28502154
42MP0002419_abnormal_innate_immunity1.27917666
43MP0002132_abnormal_respiratory_system1.23322192
44MP0008260_abnormal_autophagy1.22625822
45MP0004510_myositis1.22020198
46MP0009643_abnormal_urine_homeostasis1.21604576
47MP0005330_cardiomyopathy1.21091130
48MP0004858_abnormal_nervous_system1.20961586
49MP0000751_myopathy1.20830126
50MP0009278_abnormal_bone_marrow1.20672805
51MP0002877_abnormal_melanocyte_morpholog1.18750867
52MP0005025_abnormal_response_to1.16447980
53MP0006036_abnormal_mitochondrial_physio1.15404358
54MP0003300_gastrointestinal_ulcer1.14275120
55MP0009785_altered_susceptibility_to1.13389552
56MP0001666_abnormal_nutrient_absorption1.13064590
57MP0008469_abnormal_protein_level1.12033871
58MP0004782_abnormal_surfactant_physiolog1.08858864
59MP0000858_altered_metastatic_potential1.06711404
60MP0000681_abnormal_thyroid_gland1.06691345
61MP0004036_abnormal_muscle_relaxation1.05662558
62MP0008775_abnormal_heart_ventricle1.05324736
63MP0001958_emphysema1.04595952
64MP0005085_abnormal_gallbladder_physiolo1.03629259
65MP0000678_abnormal_parathyroid_gland1.02988344
66MP0004019_abnormal_vitamin_homeostasis1.02697377
67MP0005164_abnormal_response_to1.01787570
68MP0002998_abnormal_bone_remodeling1.00524617
69MP0001845_abnormal_inflammatory_respons0.99976156
70MP0005319_abnormal_enzyme/_coenzyme0.99945735
71MP0001873_stomach_inflammation0.99473398
72MP0001542_abnormal_bone_strength0.98232618
73MP0000249_abnormal_blood_vessel0.98190925
74MP0005083_abnormal_biliary_tract0.97314891
75MP0004084_abnormal_cardiac_muscle0.95306247
76MP0004147_increased_porphyrin_level0.93857953
77MP0004264_abnormal_extraembryonic_tissu0.93831890
78MP0001663_abnormal_digestive_system0.93543685
79MP0009764_decreased_sensitivity_to0.92902967
80MP0002896_abnormal_bone_mineralization0.92774238
81MP0010352_gastrointestinal_tract_polyps0.90876031
82MP0000604_amyloidosis0.89432863
83MP0003656_abnormal_erythrocyte_physiolo0.89220468
84MP0005332_abnormal_amino_acid0.87950364
85MP0005167_abnormal_blood-brain_barrier0.87149450
86MP0000747_muscle_weakness0.87092121
87MP0005390_skeleton_phenotype0.86706876
88MP0001853_heart_inflammation0.85854554
89MP0000003_abnormal_adipose_tissue0.84830345
90MP0003448_altered_tumor_morphology0.84155087
91MP0002118_abnormal_lipid_homeostasis0.83487074
92MP0005584_abnormal_enzyme/coenzyme_acti0.83419591
93MP0001664_abnormal_digestion0.83313681
94MP0005375_adipose_tissue_phenotype0.83007338
95MP0008875_abnormal_xenobiotic_pharmacok0.81842255
96MP0004947_skin_inflammation0.81549411
97MP0005636_abnormal_mineral_homeostasis0.81515434
98MP0005275_abnormal_skin_tensile0.81292694
99MP0001756_abnormal_urination0.80875401
100MP0005666_abnormal_adipose_tissue0.80684762

Predicted human phenotypes

RankGene SetZ-score
1Systemic lupus erythematosus (HP:0002725)3.95173001
2Abnormality of liposaccharide metabolism (HP:0010968)3.87024124
3Abnormality of glycosphingolipid metabolism (HP:0004343)3.87024124
4Abnormality of glycolipid metabolism (HP:0010969)3.87024124
5Petechiae (HP:0000967)3.36804955
6Dysostosis multiplex (HP:0000943)3.34428856
7Nuclear cataract (HP:0100018)3.18073984
8Distal lower limb muscle weakness (HP:0009053)3.03386252
9Abnormality of glutamine family amino acid metabolism (HP:0010902)2.98066018
10Vacuolated lymphocytes (HP:0001922)2.96167263
11Vertebral compression fractures (HP:0002953)2.88985249
12Purpura (HP:0000979)2.86550615
13Premature rupture of membranes (HP:0001788)2.82584990
14Loss of speech (HP:0002371)2.82510599
15Abnormality of mucopolysaccharide metabolism (HP:0011020)2.78910677
16Abnormality of polysaccharide metabolism (HP:0011012)2.78910677
17Abnormality of glycosaminoglycan metabolism (HP:0004371)2.78910677
18Mucopolysacchariduria (HP:0008155)2.77772285
19Urinary glycosaminoglycan excretion (HP:0003541)2.77772285
20Protrusio acetabuli (HP:0003179)2.76428667
21Asymmetric septal hypertrophy (HP:0001670)2.75805973
22Amyloidosis (HP:0011034)2.67818466
23Malnutrition (HP:0004395)2.66192762
24Abnormality of the nasal mucosa (HP:0000433)2.54372926
25Rhabdomyolysis (HP:0003201)2.46972950
26Abnormality of proline metabolism (HP:0010907)2.46915448
27Hydroxyprolinuria (HP:0003080)2.46915448
28Abnormality of complement system (HP:0005339)2.46448141
29Axonal loss (HP:0003447)2.42909260
30Glomerulonephritis (HP:0000099)2.39416299
31Centrally nucleated skeletal muscle fibers (HP:0003687)2.38655724
32Complement deficiency (HP:0004431)2.38239724
33Prolonged bleeding time (HP:0003010)2.33893342
34Increased cerebral lipofuscin (HP:0011813)2.30869739
35Exercise-induced myalgia (HP:0003738)2.29659933
36Myoglobinuria (HP:0002913)2.21597185
37Hypertensive crisis (HP:0100735)2.19778869
38Hepatosplenomegaly (HP:0001433)2.14371080
39Osteolytic defects of the phalanges of the hand (HP:0009771)2.10508725
40Osteolytic defects of the hand bones (HP:0009699)2.10508725
41Upper limb amyotrophy (HP:0009129)2.05390019
42Distal upper limb amyotrophy (HP:0007149)2.05390019
43J-shaped sella turcica (HP:0002680)2.03551547
44Cervical subluxation (HP:0003308)2.02166862
45Polycythemia (HP:0001901)2.01295296
46Elevated erythrocyte sedimentation rate (HP:0003565)2.01194467
47Increased serum ferritin (HP:0003281)1.99753108
48Interstitial pulmonary disease (HP:0006530)1.98549555
49Increased neuronal autofluorescent lipopigment (HP:0002074)1.98221794
50Increased connective tissue (HP:0009025)1.96202866
51Abnormality of macrophages (HP:0004311)1.96169971
52Epistaxis (HP:0000421)1.93864077
53Hemorrhage of the eye (HP:0011885)1.92182726
54Myocardial infarction (HP:0001658)1.91432543
55Atelectasis (HP:0100750)1.91152405
56Prolonged neonatal jaundice (HP:0006579)1.90922661
57Joint stiffness (HP:0001387)1.90028528
58Nasal polyposis (HP:0100582)1.89589685
59Aortic aneurysm (HP:0004942)1.86645396
60Growth hormone excess (HP:0000845)1.85817307
61Abnormal platelet function (HP:0011869)1.85498707
62Impaired platelet aggregation (HP:0003540)1.85498707
63Fat malabsorption (HP:0002630)1.84341176
64Bulbar palsy (HP:0001283)1.83750118
65Ileus (HP:0002595)1.83575162
66Progressive neurologic deterioration (HP:0002344)1.82943806
67Cholecystitis (HP:0001082)1.82744117
68Abnormal gallbladder physiology (HP:0012438)1.82744117
69Cerebral aneurysm (HP:0004944)1.81580271
70Ragged-red muscle fibers (HP:0003200)1.81471720
71Steatorrhea (HP:0002570)1.81234378
72Abnormality of skeletal muscle fiber size (HP:0012084)1.80981121
73Vascular calcification (HP:0004934)1.80401204
74Abnormality of iron homeostasis (HP:0011031)1.79796960
75Cardiovascular calcification (HP:0011915)1.77631636
76Increased CSF protein (HP:0002922)1.77615621
77Myopathic facies (HP:0002058)1.76098224
78Xanthomatosis (HP:0000991)1.75992704
79Type 1 muscle fiber predominance (HP:0003803)1.74786965
80Insulin-resistant diabetes mellitus (HP:0000831)1.74371454
81Increased variability in muscle fiber diameter (HP:0003557)1.74349076
82Polygenic inheritance (HP:0010982)1.74081239
83Hyperammonemia (HP:0001987)1.73729118
84Nemaline bodies (HP:0003798)1.71979014
85Stridor (HP:0010307)1.71877349
86Recurrent abscess formation (HP:0002722)1.71841694
87Fragile skin (HP:0001030)1.70159186
88Menorrhagia (HP:0000132)1.69394022
89Hand muscle atrophy (HP:0009130)1.68633760
90Glucose intolerance (HP:0000833)1.68073446
91Reduced subcutaneous adipose tissue (HP:0003758)1.66944837
92Stroke (HP:0001297)1.65838122
93Spinal rigidity (HP:0003306)1.64626920
94Abnormality of fatty-acid metabolism (HP:0004359)1.64292594
95Nausea (HP:0002018)1.64227450
96Right ventricular cardiomyopathy (HP:0011663)1.63195578
97Nephritis (HP:0000123)1.63017773
98Thrombocytosis (HP:0001894)1.62770866
99Hyperparathyroidism (HP:0000843)1.62598172
100Distal lower limb amyotrophy (HP:0008944)1.62307374

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN13.80887091
2NME23.74859469
3MYLK2.76693199
4TESK12.54089148
5IRAK32.52262780
6MST1R2.50863297
7EPHA22.28602515
8PDK22.15632484
9MAP2K32.05894396
10RIPK12.03979358
11TGFBR21.95163041
12MST41.90414918
13TBK11.87324200
14TESK21.85953065
15SCYL21.82572724
16MAPKAPK31.79257096
17MAP3K31.65773365
18LIMK11.53833877
19TIE11.51220417
20PRKG21.46324539
21ZAP701.44239380
22ABL21.43953079
23TYK21.42566662
24MAP3K121.42484722
25PIM21.38693615
26PAK41.38202825
27LMTK21.35512162
28KDR1.31222828
29KIT1.27752732
30FER1.23994554
31TRPM71.22116890
32LRRK21.21680035
33TRIB31.21111590
34TTN1.19901524
35PBK1.19306467
36BCKDK1.17970975
37ILK1.17555428
38PTK21.11226994
39FLT31.10447230
40MAP3K111.09396486
41JAK31.03585260
42MAP3K11.01554849
43MET1.01250891
44MAP2K61.00176487
45MAP3K61.00097899
46EPHB10.98390080
47DDR20.97729732
48TAOK20.93187800
49RIPK40.92847375
50MAP3K20.91579181
51BMX0.91279985
52BMPR20.90948273
53ACVR1B0.90170000
54MAP3K140.89319449
55EPHB20.87824761
56PDPK10.86777237
57EIF2AK10.85309845
58PHKG10.82575674
59PHKG20.82575674
60VRK20.79569175
61ERBB40.74525669
62PRKD20.74087571
63PTK2B0.71933204
64SMG10.70322756
65STK100.68289549
66PTK60.66280292
67FES0.62597704
68ARAF0.62505658
69CDC42BPA0.60498516
70TEC0.59440779
71PIK3CG0.58888260
72DAPK30.57984416
73DAPK10.57884910
74GRK70.57837788
75TNK20.56934593
76CSF1R0.56641039
77HIPK20.55943882
78PAK10.55214193
79CSK0.53839324
80MATK0.53445393
81PRPF4B0.52765046
82MAP2K20.51471876
83MOS0.51108933
84PRKAA20.49720017
85BLK0.48277775
86PRKD10.47743027
87CAMK2G0.47598622
88STK160.47302411
89PAK20.46714767
90IKBKB0.44734126
91MAP3K80.44617922
92PKN20.44052326
93GSK3A0.43838480
94BTK0.43467626
95MAP2K10.42436525
96PDGFRA0.41139812
97CAMK2D0.40677824
98NEK90.40096383
99MAPK110.39402792
100JAK10.38449823

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005113.97477736
2Glycosaminoglycan degradation_Homo sapiens_hsa005312.79121417
3Fructose and mannose metabolism_Homo sapiens_hsa000512.28031664
4Lysosome_Homo sapiens_hsa041422.24666937
5Cyanoamino acid metabolism_Homo sapiens_hsa004602.22808724
6Pentose phosphate pathway_Homo sapiens_hsa000302.19072076
7Glutathione metabolism_Homo sapiens_hsa004802.18718874
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.15176407
9Sulfur metabolism_Homo sapiens_hsa009202.12467239
10Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.03764839
11Galactose metabolism_Homo sapiens_hsa000522.02298349
12Renin-angiotensin system_Homo sapiens_hsa046141.93032482
13Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.91924102
142-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.79475968
15Fat digestion and absorption_Homo sapiens_hsa049751.66328304
16Fatty acid elongation_Homo sapiens_hsa000621.65795626
17Mineral absorption_Homo sapiens_hsa049781.62227685
18Staphylococcus aureus infection_Homo sapiens_hsa051501.57952872
19Asthma_Homo sapiens_hsa053101.56591061
20Arginine biosynthesis_Homo sapiens_hsa002201.53441983
21Pertussis_Homo sapiens_hsa051331.40175195
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.38375439
23Protein digestion and absorption_Homo sapiens_hsa049741.30758705
24Fatty acid degradation_Homo sapiens_hsa000711.30726573
25SNARE interactions in vesicular transport_Homo sapiens_hsa041301.29943284
26Carbon metabolism_Homo sapiens_hsa012001.27420530
27Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.25065183
28Arachidonic acid metabolism_Homo sapiens_hsa005901.22525554
29PPAR signaling pathway_Homo sapiens_hsa033201.22193963
30Vitamin digestion and absorption_Homo sapiens_hsa049771.18511318
31Leishmaniasis_Homo sapiens_hsa051401.16684454
32Starch and sucrose metabolism_Homo sapiens_hsa005001.15536428
33Chemical carcinogenesis_Homo sapiens_hsa052041.13909729
34Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.13483257
35Complement and coagulation cascades_Homo sapiens_hsa046101.13254378
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.11655426
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.11510978
38Histidine metabolism_Homo sapiens_hsa003401.07433260
39Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.05136237
40Rheumatoid arthritis_Homo sapiens_hsa053231.05075159
41Allograft rejection_Homo sapiens_hsa053301.03282603
42Drug metabolism - other enzymes_Homo sapiens_hsa009831.01635283
43Fatty acid metabolism_Homo sapiens_hsa012120.97427456
44Pentose and glucuronate interconversions_Homo sapiens_hsa000400.96014074
45Platelet activation_Homo sapiens_hsa046110.94076424
46Phenylalanine metabolism_Homo sapiens_hsa003600.92935099
47Arginine and proline metabolism_Homo sapiens_hsa003300.92593065
48Vibrio cholerae infection_Homo sapiens_hsa051100.88075183
49Salmonella infection_Homo sapiens_hsa051320.87172140
50Peroxisome_Homo sapiens_hsa041460.86870220
51Biosynthesis of amino acids_Homo sapiens_hsa012300.86689587
52Pancreatic secretion_Homo sapiens_hsa049720.84572603
53Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.83954129
54Autoimmune thyroid disease_Homo sapiens_hsa053200.83917098
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.83749865
56Sphingolipid metabolism_Homo sapiens_hsa006000.83539023
57Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.83022868
58Tyrosine metabolism_Homo sapiens_hsa003500.80922289
59* Amoebiasis_Homo sapiens_hsa051460.80688654
60Shigellosis_Homo sapiens_hsa051310.79518632
61Type I diabetes mellitus_Homo sapiens_hsa049400.79133517
62Leukocyte transendothelial migration_Homo sapiens_hsa046700.78939907
63Toxoplasmosis_Homo sapiens_hsa051450.78314761
64Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76386788
65Antigen processing and presentation_Homo sapiens_hsa046120.76020574
66Pyruvate metabolism_Homo sapiens_hsa006200.74746004
67Tuberculosis_Homo sapiens_hsa051520.74043307
68Hematopoietic cell lineage_Homo sapiens_hsa046400.72435192
69Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71481584
70Phagosome_Homo sapiens_hsa041450.71457747
71Graft-versus-host disease_Homo sapiens_hsa053320.70232895
72Legionellosis_Homo sapiens_hsa051340.69530865
73Intestinal immune network for IgA production_Homo sapiens_hsa046720.68789978
74Osteoclast differentiation_Homo sapiens_hsa043800.67801630
75Viral myocarditis_Homo sapiens_hsa054160.62840944
76Insulin resistance_Homo sapiens_hsa049310.62794758
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.62369864
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61526839
79Tryptophan metabolism_Homo sapiens_hsa003800.58300928
80Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.57533755
81Folate biosynthesis_Homo sapiens_hsa007900.54945057
82Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.53205556
83Hepatitis C_Homo sapiens_hsa051600.53202638
84Influenza A_Homo sapiens_hsa051640.52919637
85Glycerolipid metabolism_Homo sapiens_hsa005610.52115039
86ECM-receptor interaction_Homo sapiens_hsa045120.49773291
87N-Glycan biosynthesis_Homo sapiens_hsa005100.49584356
88Prion diseases_Homo sapiens_hsa050200.49420780
89Malaria_Homo sapiens_hsa051440.48436725
90Retinol metabolism_Homo sapiens_hsa008300.47826771
91Endocytosis_Homo sapiens_hsa041440.47750706
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47194918
93Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45849591
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44877441
95TNF signaling pathway_Homo sapiens_hsa046680.42816208
96Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.40597436
97Focal adhesion_Homo sapiens_hsa045100.40464402
98Collecting duct acid secretion_Homo sapiens_hsa049660.40314298
99African trypanosomiasis_Homo sapiens_hsa051430.39843141
100Sulfur relay system_Homo sapiens_hsa041220.39380263

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