C1S

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)6.46299931
2regulation of protein activation cascade (GO:2000257)6.31757373
3regulation of complement activation (GO:0030449)6.16890316
4exogenous drug catabolic process (GO:0042738)5.75026163
5drug catabolic process (GO:0042737)5.48916079
6* complement activation, classical pathway (GO:0006958)5.48835886
7regulation of fibrinolysis (GO:0051917)5.40896320
8negative regulation of fibrinolysis (GO:0051918)5.37386962
9epoxygenase P450 pathway (GO:0019373)5.29626104
10* complement activation (GO:0006956)5.21414513
11ethanol oxidation (GO:0006069)5.15213857
12omega-hydroxylase P450 pathway (GO:0097267)5.05057995
13* protein activation cascade (GO:0072376)4.87429404
14negative regulation of protein activation cascade (GO:2000258)4.83717232
15protein carboxylation (GO:0018214)4.83460497
16peptidyl-glutamic acid carboxylation (GO:0017187)4.83460497
17fibrinolysis (GO:0042730)4.75772426
18negative regulation of complement activation (GO:0045916)4.48885721
19regulation of plasminogen activation (GO:0010755)4.47168872
20cellular glucuronidation (GO:0052695)4.33578900
21urea metabolic process (GO:0019627)4.30698145
22erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.15870514
23L-phenylalanine catabolic process (GO:0006559)4.15870514
24ethanol metabolic process (GO:0006067)4.14700264
25glyoxylate metabolic process (GO:0046487)4.13387464
26glucuronate metabolic process (GO:0019585)4.10023330
27uronic acid metabolic process (GO:0006063)4.10023330
28drug metabolic process (GO:0017144)4.08208048
29blood coagulation, intrinsic pathway (GO:0007597)4.05063606
30erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.98068471
31L-phenylalanine metabolic process (GO:0006558)3.98068471
32nitrogen cycle metabolic process (GO:0071941)3.96908752
33regulation of apoptotic cell clearance (GO:2000425)3.91489850
34negative regulation of blood coagulation (GO:0030195)3.82602191
35negative regulation of hemostasis (GO:1900047)3.82602191
36regulation of humoral immune response (GO:0002920)3.69217311
37bile acid metabolic process (GO:0008206)3.68516575
38urea cycle (GO:0000050)3.66060000
39opsonization (GO:0008228)3.64333988
40negative regulation of coagulation (GO:0050819)3.63439373
41bile acid biosynthetic process (GO:0006699)3.62926995
42acute-phase response (GO:0006953)3.56545511
43regulation of triglyceride catabolic process (GO:0010896)3.55905858
44negative regulation of wound healing (GO:0061045)3.55151619
45regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.54703331
46regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.47517784
47negative regulation of humoral immune response (GO:0002921)3.42330229
48daunorubicin metabolic process (GO:0044597)3.40792689
49polyketide metabolic process (GO:0030638)3.40792689
50doxorubicin metabolic process (GO:0044598)3.40792689
51triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.39324778
52bile acid and bile salt transport (GO:0015721)3.38136881
53virion attachment to host cell (GO:0019062)3.35995439
54adhesion of symbiont to host cell (GO:0044650)3.35995439
55hormone catabolic process (GO:0042447)3.35052415
56protein heterotrimerization (GO:0070208)3.30855064
57keratan sulfate catabolic process (GO:0042340)3.30269105
58positive regulation of lipoprotein lipase activity (GO:0051006)3.27720564
59positive regulation of triglyceride lipase activity (GO:0061365)3.27720564
60negative regulation of cholesterol transport (GO:0032375)3.27066462
61negative regulation of sterol transport (GO:0032372)3.27066462
62phenylpropanoid metabolic process (GO:0009698)3.21737685
63negative regulation of lipase activity (GO:0060192)3.14830178
64adhesion of symbiont to host (GO:0044406)3.13549085
65peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.12371641
66positive regulation of blood coagulation (GO:0030194)3.09612851
67positive regulation of hemostasis (GO:1900048)3.09612851
68primary alcohol catabolic process (GO:0034310)3.06813804
69triglyceride homeostasis (GO:0070328)3.06468533
70acylglycerol homeostasis (GO:0055090)3.06468533
71oxidative demethylation (GO:0070989)3.05342608
72phospholipid efflux (GO:0033700)3.02527234
73positive regulation of extracellular matrix organization (GO:1903055)3.00872158
74aminoglycoside antibiotic metabolic process (GO:0030647)2.98857922
75aromatic amino acid family catabolic process (GO:0009074)2.97257441
76collagen fibril organization (GO:0030199)2.93901089
77protein-lipid complex remodeling (GO:0034368)2.92118348
78macromolecular complex remodeling (GO:0034367)2.92118348
79plasma lipoprotein particle remodeling (GO:0034369)2.92118348
80extracellular fibril organization (GO:0043206)2.91782799
81positive regulation of coagulation (GO:0050820)2.87608370
82regulation of cholesterol esterification (GO:0010872)2.83115657
83acute inflammatory response (GO:0002526)2.81683853
84primary alcohol metabolic process (GO:0034308)2.79093504
85fat-soluble vitamin biosynthetic process (GO:0042362)2.78127450
86amino-acid betaine metabolic process (GO:0006577)2.77747529
87positive regulation of lipid catabolic process (GO:0050996)2.76686819
88fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.76097321
89extracellular matrix assembly (GO:0085029)2.76049175
90intestinal cholesterol absorption (GO:0030299)2.73652978
91regulation of acute inflammatory response (GO:0002673)2.71841222
92type B pancreatic cell proliferation (GO:0044342)2.71765583
93fibril organization (GO:0097435)2.71503235
94negative regulation of fatty acid transport (GO:2000192)2.66167825
95cholesterol efflux (GO:0033344)2.65858867
96cell migration involved in heart development (GO:0060973)2.64501662
97response to mercury ion (GO:0046689)2.62781419
98sequestering of extracellular ligand from receptor (GO:0035581)2.61148028
99skin morphogenesis (GO:0043589)2.60229803
100regulation of blood coagulation (GO:0030193)2.58609359

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.48303676
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.48850089
3RXR_22158963_ChIP-Seq_LIVER_Mouse3.69828283
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.34726616
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.26841970
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.18988900
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.03503396
8PPARA_22158963_ChIP-Seq_LIVER_Mouse2.99622633
9* EGR1_23403033_ChIP-Seq_LIVER_Mouse2.88938237
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.50786158
11NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.48087197
12TP63_17297297_ChIP-ChIP_HaCaT_Human2.30805261
13TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.25065521
14ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.16865353
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.07821309
16CLOCK_20551151_ChIP-Seq_293T_Human2.06061198
17* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.96269259
18SMAD_19615063_ChIP-ChIP_OVARY_Human1.82030324
19CJUN_26792858_Chip-Seq_BT549_Human1.81780900
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.81179975
21CDX2_19796622_ChIP-Seq_MESCs_Mouse1.63656832
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.62615195
23* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.61672716
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.59499227
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58904424
26* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.58064073
27* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.55636717
28CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.53512109
29EP300_21415370_ChIP-Seq_HL-1_Mouse1.52117271
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.47018110
31NRF2_20460467_ChIP-Seq_MEFs_Mouse1.41352549
32NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.41352549
33CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.38879748
34FOXA2_19822575_ChIP-Seq_HepG2_Human1.37859723
35GATA2_21666600_ChIP-Seq_HMVEC_Human1.36408753
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.33636552
37SOX2_20726797_ChIP-Seq_SW620_Human1.28712630
38MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.28565096
39TP53_18474530_ChIP-ChIP_U2OS_Human1.26269193
40NFIB_24661679_ChIP-Seq_LUNG_Mouse1.24033360
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.21214656
42CDX2_20551321_ChIP-Seq_CACO-2_Human1.19475953
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17144873
44SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16002207
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.12384175
46ESR1_20079471_ChIP-ChIP_T-47D_Human1.12247109
47SALL4_18804426_ChIP-ChIP_XEN_Mouse1.10686246
48TBX20_22328084_ChIP-Seq_HEART_Mouse1.10404237
49TBX20_22080862_ChIP-Seq_HEART_Mouse1.10404237
50PIAS1_25552417_ChIP-Seq_VCAP_Human1.08958757
51TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.07911666
52SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.05616153
53PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.04780252
54IRF8_22096565_ChIP-ChIP_GC-B_Human1.04437354
55BRD4_25478319_ChIP-Seq_HGPS_Human1.04354957
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02066212
57SOX9_24532713_ChIP-Seq_HFSC_Mouse0.99829967
58SOX2_27498859_Chip-Seq_STOMACH_Mouse0.99324926
59ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98076611
60LXR_22292898_ChIP-Seq_THP-1_Human0.96458028
61SMC1_22415368_ChIP-Seq_MEFs_Mouse0.96024954
62TP53_16413492_ChIP-PET_HCT116_Human0.95909663
63P63_26484246_Chip-Seq_KERATINOCYTES_Human0.95875873
64ELK3_25401928_ChIP-Seq_HUVEC_Human0.94757105
65FOXO3_23340844_ChIP-Seq_DLD1_Human0.94727758
66* HNF4A_19822575_ChIP-Seq_HepG2_Human0.94691666
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94045263
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.93470668
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.92673097
70FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92301105
71FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.91565248
72EED_16625203_ChIP-ChIP_MESCs_Mouse0.91342650
73SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.91210070
74JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91129236
75GATA4_25053715_ChIP-Seq_YYC3_Human0.88560716
76JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86496514
77STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85513846
78SMC3_22415368_ChIP-Seq_MEFs_Mouse0.85336524
79MTF2_20144788_ChIP-Seq_MESCs_Mouse0.85175059
80ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85131942
81RAD21_21589869_ChIP-Seq_MESCs_Mouse0.84858379
82* SA1_22415368_ChIP-Seq_MEFs_Mouse0.84098529
83WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.83770946
84EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83352420
85TCF4_18268006_ChIP-ChIP_LS174T_Human0.82710395
86EZH2_18974828_ChIP-Seq_MESCs_Mouse0.81153294
87RNF2_18974828_ChIP-Seq_MESCs_Mouse0.81153294
88SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.80556569
89SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.80556569
90SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.78320716
91PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.76702491
92HIF1A_21447827_ChIP-Seq_MCF-7_Human0.75380900
93AHR_22903824_ChIP-Seq_MCF-7_Human0.75141644
94DNAJC2_21179169_ChIP-ChIP_NT2_Human0.73240603
95* TP63_23658742_ChIP-Seq_EP156T_Human0.73097959
96KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.71587347
97SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.71529261
98SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.71389492
99SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.71268292
100SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.70877736

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.55815601
2MP0002139_abnormal_hepatobiliary_system4.97923581
3MP0005503_abnormal_tendon_morphology4.89888290
4MP0005275_abnormal_skin_tensile4.71241750
5MP0005360_urolithiasis3.57619448
6MP0005085_abnormal_gallbladder_physiolo3.29340948
7MP0005365_abnormal_bile_salt3.28974255
8MP0001958_emphysema2.96840093
9MP0003705_abnormal_hypodermis_morpholog2.86814166
10MP0003279_aneurysm2.74462105
11MP0004272_abnormal_basement_membrane2.72305886
12MP0010368_abnormal_lymphatic_system2.58905269
13MP0008875_abnormal_xenobiotic_pharmacok2.44605184
14MP0003252_abnormal_bile_duct2.26957304
15MP0009840_abnormal_foam_cell2.14883321
16MP0002138_abnormal_hepatobiliary_system2.09154422
17MP0005257_abnormal_intraocular_pressure2.08478078
18MP0006054_spinal_hemorrhage2.05401776
19MP0003868_abnormal_feces_composition1.96090931
20MP0001666_abnormal_nutrient_absorption1.94046892
21MP0005023_abnormal_wound_healing1.90333884
22MP0003191_abnormal_cellular_cholesterol1.87156154
23MP0003195_calcinosis1.83070908
24MP0001542_abnormal_bone_strength1.73909037
25MP0010329_abnormal_lipoprotein_level1.70455148
26MP0002295_abnormal_pulmonary_circulatio1.67271445
27MP0002108_abnormal_muscle_morphology1.62725112
28MP0005670_abnormal_white_adipose1.53639577
29MP0002060_abnormal_skin_morphology1.48016221
30MP0005508_abnormal_skeleton_morphology1.44991424
31MP0003566_abnormal_cell_adhesion1.39436087
32MP0009384_cardiac_valve_regurgitation1.38945076
33MP0005332_abnormal_amino_acid1.32630395
34MP0000751_myopathy1.32334180
35MP0002876_abnormal_thyroid_physiology1.30030536
36MP0005164_abnormal_response_to1.24335210
37MP0002933_joint_inflammation1.18780935
38MP0000767_abnormal_smooth_muscle1.18606057
39MP0000604_amyloidosis1.13647855
40MP0003300_gastrointestinal_ulcer1.13395960
41MP0001661_extended_life_span1.11479591
42MP0002896_abnormal_bone_mineralization1.11395584
43MP0001243_abnormal_dermal_layer1.08446000
44MP0003091_abnormal_cell_migration1.08225199
45MP0004019_abnormal_vitamin_homeostasis1.03271000
46MP0002971_abnormal_brown_adipose1.01621462
47MP0003724_increased_susceptibility_to1.00711343
48MP0005390_skeleton_phenotype1.00638930
49MP0005595_abnormal_vascular_smooth0.99196590
50MP0002254_reproductive_system_inflammat0.99183459
51MP0002118_abnormal_lipid_homeostasis0.97693847
52MP0004858_abnormal_nervous_system0.96872594
53MP0003011_delayed_dark_adaptation0.95855594
54MP0001533_abnormal_skeleton_physiology0.93805425
55MP0000609_abnormal_liver_physiology0.91050081
56MP0000249_abnormal_blood_vessel0.90027493
57MP0001879_abnormal_lymphatic_vessel0.88466042
58MP0010352_gastrointestinal_tract_polyps0.86581157
59MP0002168_other_aberrant_phenotype0.85493897
60MP0005058_abnormal_lysosome_morphology0.85086913
61MP0009780_abnormal_chondrocyte_physiolo0.84274511
62MP0003950_abnormal_plasma_membrane0.83482774
63MP0010386_abnormal_urinary_bladder0.83354021
64MP0002998_abnormal_bone_remodeling0.82381612
65MP0004883_abnormal_blood_vessel0.81560639
66MP0000013_abnormal_adipose_tissue0.81409961
67MP0004782_abnormal_surfactant_physiolog0.76609477
68MP0008004_abnormal_stomach_pH0.76068132
69MP0009643_abnormal_urine_homeostasis0.72476399
70MP0002133_abnormal_respiratory_system0.71947476
71MP0005388_respiratory_system_phenotype0.71947476
72MP0002128_abnormal_blood_circulation0.70287499
73MP0000343_altered_response_to0.69919030
74MP0003448_altered_tumor_morphology0.69042857
75MP0009053_abnormal_anal_canal0.68130215
76MP0002282_abnormal_trachea_morphology0.67266048
77MP0000467_abnormal_esophagus_morphology0.64286736
78MP0001915_intracranial_hemorrhage0.64205791
79MP0000163_abnormal_cartilage_morphology0.64096036
80MP0005165_increased_susceptibility_to0.64041174
81MP0003186_abnormal_redox_activity0.63762864
82MP0003941_abnormal_skin_development0.62819615
83MP0005166_decreased_susceptibility_to0.61074300
84MP0002249_abnormal_larynx_morphology0.59111134
85MP0003329_amyloid_beta_deposits0.58224300
86MP0005408_hypopigmentation0.57982682
87MP0005319_abnormal_enzyme/_coenzyme0.57521334
88MP0005584_abnormal_enzyme/coenzyme_acti0.57207010
89MP0005409_darkened_coat_color0.57191625
90MP0001756_abnormal_urination0.56218551
91MP0002115_abnormal_skeleton_extremities0.55997912
92MP0009763_increased_sensitivity_to0.55750420
93MP0000462_abnormal_digestive_system0.55333251
94MP0006138_congestive_heart_failure0.55314070
95MP0000003_abnormal_adipose_tissue0.54951099
96MP0009764_decreased_sensitivity_to0.54354112
97MP0005375_adipose_tissue_phenotype0.52994667
98MP0001614_abnormal_blood_vessel0.52592588
99MP0002136_abnormal_kidney_physiology0.51955976
100MP0005197_abnormal_uvea_morphology0.51272072

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)8.08359312
2* Abnormality of complement system (HP:0005339)6.46913242
3Protrusio acetabuli (HP:0003179)6.07125456
4Abnormality of monocarboxylic acid metabolism (HP:0010996)5.75490631
5* Systemic lupus erythematosus (HP:0002725)5.29545254
6Deep venous thrombosis (HP:0002625)5.14189479
7Premature rupture of membranes (HP:0001788)4.92253308
8Glomerulonephritis (HP:0000099)4.71007712
9Aortic aneurysm (HP:0004942)4.36376309
10Aortic dissection (HP:0002647)4.12000626
11Prolonged partial thromboplastin time (HP:0003645)4.09137594
12Nephritis (HP:0000123)3.98481139
13Vascular tortuosity (HP:0004948)3.81448983
14Conjugated hyperbilirubinemia (HP:0002908)3.64500602
15Abnormality of aromatic amino acid family metabolism (HP:0004338)3.61708254
16Hypobetalipoproteinemia (HP:0003563)3.60994217
17Broad metatarsal (HP:0001783)3.41347678
18Ankle contracture (HP:0006466)3.37846497
19Joint hemorrhage (HP:0005261)3.37763022
20Hyperlipoproteinemia (HP:0010980)3.37200762
21Soft skin (HP:0000977)3.30957559
22Follicular hyperkeratosis (HP:0007502)3.29185038
23Vertebral compression fractures (HP:0002953)3.26235976
24Mitral stenosis (HP:0001718)3.24479788
25Cervical subluxation (HP:0003308)3.20682175
26Abnormality of glutamine family amino acid metabolism (HP:0010902)3.19840848
27Arterial tortuosity (HP:0005116)3.12550471
28Xanthomatosis (HP:0000991)3.09212909
29Intrahepatic cholestasis (HP:0001406)2.99802769
30Bladder diverticulum (HP:0000015)2.94803078
31Peritonitis (HP:0002586)2.89409714
32Type 1 muscle fiber predominance (HP:0003803)2.87372925
33Wormian bones (HP:0002645)2.79817615
34Abnormality of the common coagulation pathway (HP:0010990)2.79357809
35Atrophic scars (HP:0001075)2.70874298
36Blue sclerae (HP:0000592)2.65036499
37Dilatation of the ascending aorta (HP:0005111)2.64757763
38Hypolipoproteinemia (HP:0010981)2.60567239
39Wrist flexion contracture (HP:0001239)2.55883544
40Cerebral aneurysm (HP:0004944)2.54804918
41Cardiovascular calcification (HP:0011915)2.54676457
42Osteolytic defects of the hand bones (HP:0009699)2.51999329
43Osteolytic defects of the phalanges of the hand (HP:0009771)2.51999329
44Fragile skin (HP:0001030)2.51796575
45Abnormal delivery (HP:0001787)2.51688911
46Neonatal short-limb short stature (HP:0008921)2.50734118
47Abnormality of the intrinsic pathway (HP:0010989)2.43549344
48Aneurysm (HP:0002617)2.43271570
49Spondylolisthesis (HP:0003302)2.42121774
50Recurrent gram-negative bacterial infections (HP:0005420)2.39478311
51Fat malabsorption (HP:0002630)2.38769112
52Hydroxyprolinuria (HP:0003080)2.37438079
53Abnormality of proline metabolism (HP:0010907)2.37438079
54Spinal rigidity (HP:0003306)2.32890264
55Spontaneous abortion (HP:0005268)2.32698157
56Hypoalphalipoproteinemia (HP:0003233)2.32151789
57Mitral valve prolapse (HP:0001634)2.29670820
58Biconcave vertebral bodies (HP:0004586)2.29009530
59Increased variability in muscle fiber diameter (HP:0003557)2.28187263
60Slender build (HP:0001533)2.24761518
61Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.24472877
62Shallow orbits (HP:0000586)2.20990962
63Hemorrhage of the eye (HP:0011885)2.17460549
64Skin nodule (HP:0200036)2.17159986
65Joint stiffness (HP:0001387)2.10560326
66Hyperextensible skin (HP:0000974)2.09555845
67Gingival bleeding (HP:0000225)2.09070451
68Vascular calcification (HP:0004934)2.07110331
69Abnormality of dentin (HP:0010299)2.03814718
70Striae distensae (HP:0001065)2.03452421
71Mildly elevated creatine phosphokinase (HP:0008180)2.03386516
72Overgrowth (HP:0001548)2.00617129
73Abnormality of the acetabulum (HP:0003170)1.99916163
74Abnormality of pyrimidine metabolism (HP:0004353)1.98771391
75Increased connective tissue (HP:0009025)1.96809523
76Purpura (HP:0000979)1.96378962
77Emphysema (HP:0002097)1.95859244
78Mucopolysacchariduria (HP:0008155)1.94390387
79Urinary glycosaminoglycan excretion (HP:0003541)1.94390387
80Aortic regurgitation (HP:0001659)1.93986502
81Joint laxity (HP:0001388)1.91283808
82Steatorrhea (HP:0002570)1.90532118
83Nonimmune hydrops fetalis (HP:0001790)1.87582440
84Genu recurvatum (HP:0002816)1.86729993
85Wide anterior fontanel (HP:0000260)1.86623584
86Ovoid vertebral bodies (HP:0003300)1.85432703
87Aortic valve stenosis (HP:0001650)1.85060756
88Abnormality of skeletal muscle fiber size (HP:0012084)1.84569780
89Ectopia lentis (HP:0001083)1.83498917
90Abnormality of mucopolysaccharide metabolism (HP:0011020)1.80865111
91Abnormality of polysaccharide metabolism (HP:0011012)1.80865111
92Abnormality of glycosaminoglycan metabolism (HP:0004371)1.80865111
93Polycythemia (HP:0001901)1.80746707
94Myocardial infarction (HP:0001658)1.77612841
95Coxa vara (HP:0002812)1.75985853
96Persistence of primary teeth (HP:0006335)1.74200790
97Abnormality of the Achilles tendon (HP:0005109)1.71926207
98Pulmonary artery stenosis (HP:0004415)1.69637819
99Amyloidosis (HP:0011034)1.69541998
100Gingival overgrowth (HP:0000212)1.68913648

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.71636701
2MYLK4.34036071
3PDGFRA3.65116440
4RIPK13.37851336
5DDR23.35294085
6FGFR42.62715011
7TGFBR22.59671887
8EPHA32.44047262
9TYK22.06229721
10MST1R2.01554511
11KIT1.95193522
12NEK91.89509564
13CDC42BPA1.84844830
14TRIB31.83467388
15EPHB11.82567723
16EPHB21.82093342
17JAK11.79199699
18SIK11.61500803
19PIK3CG1.55353432
20PDGFRB1.52995449
21MET1.50461786
22NTRK11.48502888
23LATS11.46292375
24LATS21.43788534
25ABL21.42858329
26FGFR31.40094661
27PAK21.32392547
28PTK21.31936705
29GRK11.31378722
30TTN1.30441590
31NLK1.28951114
32TESK11.28942099
33AKT31.27834319
34MAP3K61.26572998
35GRK51.21632834
36FER1.18758238
37MAPK71.15864982
38PRPF4B1.14909837
39MAP3K31.13622134
40PIK3CA1.01158345
41STK380.99092242
42PRKD20.94179494
43TRPM70.90184106
44LMTK20.88332310
45PAK40.87891933
46ADRBK10.86558969
47MAPKAPK30.86394494
48TBK10.85586442
49TIE10.80773917
50PRKG20.79408561
51JAK30.78154399
52ZAP700.76974461
53MAP3K70.76807526
54MAP3K20.75227469
55PRKAA20.73640990
56DMPK0.69366620
57GSK3A0.64938523
58PRKD10.63421110
59PDPK10.62737264
60STK38L0.60538525
61ADRBK20.60090552
62RET0.59319521
63MAPK40.59090454
64MAP3K120.57231981
65MAP3K10.56733696
66ROCK10.56683581
67MTOR0.55225270
68PKN20.54786904
69MAPK110.54765358
70PRKACG0.54199065
71HIPK20.52507125
72CAMK2G0.50592508
73GRK60.50452127
74FLT30.50096745
75ERBB40.49983665
76RPS6KA20.49587499
77IGF1R0.49327092
78JAK20.47332238
79GRK70.45583239
80MAP2K10.45392151
81SRC0.43852166
82LIMK10.42714554
83MAPK120.42686733
84DAPK30.40865102
85ROCK20.39675275
86STK30.39636195
87KSR20.38842510
88MARK20.36612225
89TGFBR10.36106513
90ILK0.35421918
91PTK60.34860319
92IRAK10.34711531
93PRKCE0.34515865
94BMX0.33019218
95ERBB20.32361108
96ABL10.31239092
97MAP3K130.31144651
98BLK0.31121769
99PRKG10.30990463
100MELK0.30925197

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046104.32460204
2Caffeine metabolism_Homo sapiens_hsa002323.47739414
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.31631961
4Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.19876408
5Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.14189147
6Retinol metabolism_Homo sapiens_hsa008303.12634064
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.71563373
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.70551128
9Chemical carcinogenesis_Homo sapiens_hsa052042.65830712
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.42337071
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.39827752
12Phenylalanine metabolism_Homo sapiens_hsa003602.29217644
13Fatty acid degradation_Homo sapiens_hsa000712.29027677
14Tyrosine metabolism_Homo sapiens_hsa003502.20773284
15Arginine biosynthesis_Homo sapiens_hsa002202.20334333
16Histidine metabolism_Homo sapiens_hsa003402.15188510
17Drug metabolism - other enzymes_Homo sapiens_hsa009832.10661907
18* Staphylococcus aureus infection_Homo sapiens_hsa051502.03026961
19Cyanoamino acid metabolism_Homo sapiens_hsa004601.97509737
20PPAR signaling pathway_Homo sapiens_hsa033201.72728189
21Bile secretion_Homo sapiens_hsa049761.71677583
22Tryptophan metabolism_Homo sapiens_hsa003801.71566146
23Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.66020858
24Linoleic acid metabolism_Homo sapiens_hsa005911.53893289
25Starch and sucrose metabolism_Homo sapiens_hsa005001.49821542
26Prion diseases_Homo sapiens_hsa050201.48223194
27ECM-receptor interaction_Homo sapiens_hsa045121.43876530
28Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.37101531
29Arachidonic acid metabolism_Homo sapiens_hsa005901.37083332
30Butanoate metabolism_Homo sapiens_hsa006501.25091690
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.21951225
32Glycosaminoglycan degradation_Homo sapiens_hsa005311.20950916
33Fat digestion and absorption_Homo sapiens_hsa049751.19295803
34Protein digestion and absorption_Homo sapiens_hsa049741.05626256
35beta-Alanine metabolism_Homo sapiens_hsa004101.02200580
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.00708165
37ABC transporters_Homo sapiens_hsa020100.97754014
38Vitamin B6 metabolism_Homo sapiens_hsa007500.94360249
39Arginine and proline metabolism_Homo sapiens_hsa003300.94030020
40Other glycan degradation_Homo sapiens_hsa005110.90677704
41* Pertussis_Homo sapiens_hsa051330.89888392
42Sulfur metabolism_Homo sapiens_hsa009200.87927750
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85576104
44Amoebiasis_Homo sapiens_hsa051460.84470884
45Peroxisome_Homo sapiens_hsa041460.82711023
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78228989
47Renin-angiotensin system_Homo sapiens_hsa046140.76452588
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.76133711
49Focal adhesion_Homo sapiens_hsa045100.75331756
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73180166
51Mineral absorption_Homo sapiens_hsa049780.64693048
52Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.63133791
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.58370481
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58027529
55Pyruvate metabolism_Homo sapiens_hsa006200.56272110
56Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.55195628
57Glycerolipid metabolism_Homo sapiens_hsa005610.53396330
58Fatty acid metabolism_Homo sapiens_hsa012120.50468290
59Malaria_Homo sapiens_hsa051440.47470241
60Biosynthesis of amino acids_Homo sapiens_hsa012300.45396217
61alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42409873
62Insulin resistance_Homo sapiens_hsa049310.42172992
63Carbon metabolism_Homo sapiens_hsa012000.41734707
64Propanoate metabolism_Homo sapiens_hsa006400.40251075
65Cysteine and methionine metabolism_Homo sapiens_hsa002700.39743539
66Adipocytokine signaling pathway_Homo sapiens_hsa049200.36234638
67Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.35436421
68Vitamin digestion and absorption_Homo sapiens_hsa049770.35426733
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.35015129
70Galactose metabolism_Homo sapiens_hsa000520.33951817
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.33865413
72Fructose and mannose metabolism_Homo sapiens_hsa000510.32559771
73Proteoglycans in cancer_Homo sapiens_hsa052050.30699373
74Glutathione metabolism_Homo sapiens_hsa004800.30528800
75Lysine degradation_Homo sapiens_hsa003100.28616935
76Lysosome_Homo sapiens_hsa041420.27635512
77Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.27225321
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26241543
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.26215938
80Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24009920
81PI3K-Akt signaling pathway_Homo sapiens_hsa041510.22982507
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.22783661
83Dilated cardiomyopathy_Homo sapiens_hsa054140.20414311
84Phagosome_Homo sapiens_hsa041450.15210408
85AMPK signaling pathway_Homo sapiens_hsa041520.14418261
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.13342966
87Ovarian steroidogenesis_Homo sapiens_hsa049130.13192281
88Metabolic pathways_Homo sapiens_hsa011000.12707971
89Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.12133026
90Sphingolipid metabolism_Homo sapiens_hsa006000.11594100
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.11045991
92TGF-beta signaling pathway_Homo sapiens_hsa043500.10793721
93African trypanosomiasis_Homo sapiens_hsa051430.10054788
94Pentose phosphate pathway_Homo sapiens_hsa000300.08894644
95Sulfur relay system_Homo sapiens_hsa041220.07337547
96Regulation of actin cytoskeleton_Homo sapiens_hsa048100.07241425
97Glucagon signaling pathway_Homo sapiens_hsa049220.07117356
98Toxoplasmosis_Homo sapiens_hsa051450.07098322
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.06903885
100Thyroid hormone synthesis_Homo sapiens_hsa049180.03907265

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