C1R

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)5.74548288
2regulation of protein activation cascade (GO:2000257)5.50668119
3regulation of complement activation (GO:0030449)5.44369463
4* complement activation, classical pathway (GO:0006958)5.08359728
5* complement activation (GO:0006956)4.80004161
6regulation of plasminogen activation (GO:0010755)4.73135152
7protein heterotrimerization (GO:0070208)4.68214075
8exogenous drug catabolic process (GO:0042738)4.67463679
9regulation of fibrinolysis (GO:0051917)4.62311527
10negative regulation of fibrinolysis (GO:0051918)4.59846180
11ethanol oxidation (GO:0006069)4.58124532
12protein carboxylation (GO:0018214)4.54510508
13peptidyl-glutamic acid carboxylation (GO:0017187)4.54510508
14epoxygenase P450 pathway (GO:0019373)4.51928472
15omega-hydroxylase P450 pathway (GO:0097267)4.48852492
16* protein activation cascade (GO:0072376)4.41158042
17drug catabolic process (GO:0042737)4.38422689
18negative regulation of protein activation cascade (GO:2000258)4.20713219
19fibrinolysis (GO:0042730)4.14076584
20negative regulation of complement activation (GO:0045916)3.99111019
21adhesion of symbiont to host cell (GO:0044650)3.92772969
22virion attachment to host cell (GO:0019062)3.92772969
23regulation of apoptotic cell clearance (GO:2000425)3.91157377
24regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.74740633
25ethanol metabolic process (GO:0006067)3.70833392
26cell migration involved in heart development (GO:0060973)3.69430960
27keratan sulfate catabolic process (GO:0042340)3.68073778
28regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.64146100
29extracellular fibril organization (GO:0043206)3.64057199
30adhesion of symbiont to host (GO:0044406)3.64047567
31extracellular matrix assembly (GO:0085029)3.59651929
32peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.58829584
33collagen fibril organization (GO:0030199)3.56686307
34urea metabolic process (GO:0019627)3.49563300
35opsonization (GO:0008228)3.46244023
36blood coagulation, intrinsic pathway (GO:0007597)3.44995553
37negative regulation of hemostasis (GO:1900047)3.41038594
38negative regulation of blood coagulation (GO:0030195)3.41038594
39type B pancreatic cell proliferation (GO:0044342)3.40496545
40fibril organization (GO:0097435)3.32611398
41skin morphogenesis (GO:0043589)3.30323866
42drug metabolic process (GO:0017144)3.26951738
43negative regulation of coagulation (GO:0050819)3.24707082
44nitrogen cycle metabolic process (GO:0071941)3.24560944
45glyoxylate metabolic process (GO:0046487)3.23139863
46erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.20429536
47L-phenylalanine catabolic process (GO:0006559)3.20429536
48negative regulation of wound healing (GO:0061045)3.17502718
49regulation of humoral immune response (GO:0002920)3.17477104
50basement membrane organization (GO:0071711)3.14160524
51endodermal cell differentiation (GO:0035987)3.06302557
52L-phenylalanine metabolic process (GO:0006558)3.06108335
53erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.06108335
54acute-phase response (GO:0006953)3.05221224
55vascular endothelial growth factor signaling pathway (GO:0038084)3.04903853
56cellular glucuronidation (GO:0052695)3.03803284
57positive regulation of extracellular matrix organization (GO:1903055)3.02666416
58tooth mineralization (GO:0034505)3.01131718
59negative regulation of humoral immune response (GO:0002921)3.00651573
60positive regulation of triglyceride lipase activity (GO:0061365)3.00271367
61positive regulation of lipoprotein lipase activity (GO:0051006)3.00271367
62urea cycle (GO:0000050)2.99436002
63triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.97208130
64sequestering of extracellular ligand from receptor (GO:0035581)2.97117414
65blood vessel maturation (GO:0001955)2.95843628
66bile acid biosynthetic process (GO:0006699)2.91676221
67bile acid metabolic process (GO:0008206)2.90219229
68negative regulation of fatty acid transport (GO:2000192)2.88789931
69collagen metabolic process (GO:0032963)2.86052209
70glucuronate metabolic process (GO:0019585)2.84333832
71uronic acid metabolic process (GO:0006063)2.84333832
72regulation of triglyceride catabolic process (GO:0010896)2.84241184
73regulation of extracellular matrix disassembly (GO:0010715)2.80926031
74hormone catabolic process (GO:0042447)2.74776865
75multicellular organismal macromolecule metabolic process (GO:0044259)2.74609894
76bone trabecula formation (GO:0060346)2.72901709
77positive regulation of hemostasis (GO:1900048)2.72791259
78positive regulation of blood coagulation (GO:0030194)2.72791259
79regulation of phospholipase A2 activity (GO:0032429)2.71707761
80negative regulation of lipase activity (GO:0060192)2.71220915
81positive regulation of endothelial cell apoptotic process (GO:2000353)2.68168363
82collagen catabolic process (GO:0030574)2.65005763
83multicellular organismal metabolic process (GO:0044236)2.64423604
84glomerular basement membrane development (GO:0032836)2.63541964
85cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.63497711
86negative regulation of sterol transport (GO:0032372)2.63485158
87negative regulation of cholesterol transport (GO:0032375)2.63485158
88metanephric mesenchyme development (GO:0072075)2.63317759
89bile acid and bile salt transport (GO:0015721)2.62825259
90extracellular matrix disassembly (GO:0022617)2.61616132
91glomerular filtration (GO:0003094)2.54525187
92barbed-end actin filament capping (GO:0051016)2.52818519
93multicellular organismal catabolic process (GO:0044243)2.52689906
94positive regulation of coagulation (GO:0050820)2.52312625
95dermatan sulfate metabolic process (GO:0030205)2.49360285
96negative regulation of smooth muscle cell migration (GO:0014912)2.48029371
97positive regulation of lipid catabolic process (GO:0050996)2.46587719
98mesenchymal-epithelial cell signaling (GO:0060638)2.46374331
99dermatan sulfate biosynthetic process (GO:0030208)2.45287173
100hyaluronan catabolic process (GO:0030214)2.45178887

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.57352595
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.55118124
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.16699922
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.82799552
5RXR_22158963_ChIP-Seq_LIVER_Mouse3.14242903
6TP63_17297297_ChIP-ChIP_HaCaT_Human2.92436283
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.84986372
8* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.64538572
9LXR_22158963_ChIP-Seq_LIVER_Mouse2.62000970
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.60325844
11PPARA_22158963_ChIP-Seq_LIVER_Mouse2.55298089
12CLOCK_20551151_ChIP-Seq_293T_Human2.34228831
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.20238822
14CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.15134272
15NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.13480789
16FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.12881592
17EGR1_23403033_ChIP-Seq_LIVER_Mouse2.09396826
18RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.08108522
19ESR2_21235772_ChIP-Seq_MCF-7_Human1.95422006
20CJUN_26792858_Chip-Seq_BT549_Human1.69597607
21SMAD_19615063_ChIP-ChIP_OVARY_Human1.69045417
22TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61423357
23ELK3_25401928_ChIP-Seq_HUVEC_Human1.56071483
24LXR_22292898_ChIP-Seq_THP-1_Human1.55823895
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.55658475
26RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.54713793
27EP300_21415370_ChIP-Seq_HL-1_Mouse1.51509454
28TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.49878456
29ESR1_21235772_ChIP-Seq_MCF-7_Human1.49306067
30CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.48058173
31NFIB_24661679_ChIP-Seq_LUNG_Mouse1.45038369
32NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42190538
33* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.37552882
34GATA2_21666600_ChIP-Seq_HMVEC_Human1.34788956
35EED_16625203_ChIP-ChIP_MESCs_Mouse1.32866352
36CDX2_19796622_ChIP-Seq_MESCs_Mouse1.31108557
37TBX20_22080862_ChIP-Seq_HEART_Mouse1.28700563
38TBX20_22328084_ChIP-Seq_HEART_Mouse1.28700563
39SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.28103320
40IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.25731329
41SMC1_22415368_ChIP-Seq_MEFs_Mouse1.25272583
42WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.24054078
43PPAR_26484153_Chip-Seq_NCI-H1993_Human1.21187956
44NRF2_20460467_ChIP-Seq_MEFs_Mouse1.20368624
45NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.20368624
46SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.18916349
47TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18184523
48EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.17262085
49SMC3_22415368_ChIP-Seq_MEFs_Mouse1.17030239
50BRD4_25478319_ChIP-Seq_HGPS_Human1.15615865
51SOX9_24532713_ChIP-Seq_HFSC_Mouse1.12546752
52SOX2_20726797_ChIP-Seq_SW620_Human1.10598451
53PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.10213481
54SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.10106829
55FOXA2_19822575_ChIP-Seq_HepG2_Human1.10061894
56P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09548698
57EZH2_18974828_ChIP-Seq_MESCs_Mouse1.09081563
58RNF2_18974828_ChIP-Seq_MESCs_Mouse1.09081563
59SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.08598999
60TP53_18474530_ChIP-ChIP_U2OS_Human1.08511713
61SA1_22415368_ChIP-Seq_MEFs_Mouse1.07349112
62MTF2_20144788_ChIP-Seq_MESCs_Mouse1.04894113
63UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04014438
64RAD21_21589869_ChIP-Seq_MESCs_Mouse1.03445713
65RACK7_27058665_Chip-Seq_MCF-7_Human1.03152438
66DNAJC2_21179169_ChIP-ChIP_NT2_Human1.00610513
67HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99542871
68NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.98770172
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.97926164
70PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.97624444
71ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97233408
72JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96464333
73SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94814177
74JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94612411
75P300_27058665_Chip-Seq_ZR-75-30cells_Human0.94485398
76Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.93666559
77SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.93270051
78SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93198565
79CDX2_20551321_ChIP-Seq_CACO-2_Human0.92213994
80KDM2B_26808549_Chip-Seq_SUP-B15_Human0.90541919
81SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.90465568
82SALL4_18804426_ChIP-ChIP_XEN_Mouse0.89792876
83SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.89477673
84TP53_20018659_ChIP-ChIP_R1E_Mouse0.89264545
85TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.87677669
86ERG_21242973_ChIP-ChIP_JURKAT_Human0.87519014
87KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.87044996
88JARID2_20075857_ChIP-Seq_MESCs_Mouse0.86334259
89STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.86162467
90SOX2_27498859_Chip-Seq_STOMACH_Mouse0.84549173
91DROSHA_22980978_ChIP-Seq_HELA_Human0.83921722
92UBF1/2_26484160_Chip-Seq_HMECs_Human0.83784090
93ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.83719930
94TP53_16413492_ChIP-PET_HCT116_Human0.82852383
95ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82508629
96SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82189417
97KDM2B_26808549_Chip-Seq_K562_Human0.81982444
98SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.80504746
99SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.80504746
100SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.78803518

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.28959051
2MP0005503_abnormal_tendon_morphology5.53664891
3MP0005275_abnormal_skin_tensile4.99213283
4MP0001958_emphysema3.64223509
5MP0003705_abnormal_hypodermis_morpholog3.54956075
6MP0002139_abnormal_hepatobiliary_system3.39228878
7MP0003279_aneurysm3.34766432
8MP0004272_abnormal_basement_membrane3.11629312
9MP0010368_abnormal_lymphatic_system2.69470823
10MP0005360_urolithiasis2.57871721
11MP0005257_abnormal_intraocular_pressure2.51556683
12MP0006054_spinal_hemorrhage2.35882187
13MP0005365_abnormal_bile_salt2.26338462
14MP0005085_abnormal_gallbladder_physiolo2.15390319
15MP0005023_abnormal_wound_healing1.97651577
16MP0000751_myopathy1.96851418
17MP0001542_abnormal_bone_strength1.92937607
18MP0009840_abnormal_foam_cell1.89910650
19MP0002295_abnormal_pulmonary_circulatio1.85598280
20MP0002108_abnormal_muscle_morphology1.84205800
21MP0005508_abnormal_skeleton_morphology1.78636967
22MP0009384_cardiac_valve_regurgitation1.78312712
23MP0002060_abnormal_skin_morphology1.72980931
24MP0008875_abnormal_xenobiotic_pharmacok1.71233961
25MP0003191_abnormal_cellular_cholesterol1.63470596
26MP0003566_abnormal_cell_adhesion1.59763085
27MP0003252_abnormal_bile_duct1.49655969
28MP0000767_abnormal_smooth_muscle1.49388056
29MP0002933_joint_inflammation1.43972887
30MP0004858_abnormal_nervous_system1.34518865
31MP0002138_abnormal_hepatobiliary_system1.33091832
32MP0003091_abnormal_cell_migration1.31303814
33MP0001243_abnormal_dermal_layer1.23372401
34MP0005670_abnormal_white_adipose1.23044358
35MP0002896_abnormal_bone_mineralization1.22783339
36MP0005164_abnormal_response_to1.22773089
37MP0002254_reproductive_system_inflammat1.20657043
38MP0003868_abnormal_feces_composition1.20512011
39MP0005390_skeleton_phenotype1.19503714
40MP0005595_abnormal_vascular_smooth1.18978426
41MP0001666_abnormal_nutrient_absorption1.18804300
42MP0010329_abnormal_lipoprotein_level1.14450457
43MP0000604_amyloidosis1.14326165
44MP0003300_gastrointestinal_ulcer1.10533504
45MP0005058_abnormal_lysosome_morphology1.05066084
46MP0003011_delayed_dark_adaptation1.00068438
47MP0003724_increased_susceptibility_to0.99948313
48MP0001879_abnormal_lymphatic_vessel0.99412748
49MP0001661_extended_life_span0.99318070
50MP0001533_abnormal_skeleton_physiology0.98767495
51MP0000013_abnormal_adipose_tissue0.96874220
52MP0003195_calcinosis0.93527323
53MP0002998_abnormal_bone_remodeling0.92076969
54MP0002249_abnormal_larynx_morphology0.87552736
55MP0008004_abnormal_stomach_pH0.86628222
56MP0000249_abnormal_blood_vessel0.86529001
57MP0004883_abnormal_blood_vessel0.86275801
58MP0003329_amyloid_beta_deposits0.84734308
59MP0002971_abnormal_brown_adipose0.84073474
60MP0005332_abnormal_amino_acid0.84037460
61MP0010352_gastrointestinal_tract_polyps0.81188602
62MP0009780_abnormal_chondrocyte_physiolo0.79288521
63MP0000163_abnormal_cartilage_morphology0.78927210
64MP0003950_abnormal_plasma_membrane0.78518827
65MP0002128_abnormal_blood_circulation0.77803991
66MP0002133_abnormal_respiratory_system0.77513655
67MP0005388_respiratory_system_phenotype0.77513655
68MP0000343_altered_response_to0.74840486
69MP0002282_abnormal_trachea_morphology0.74622180
70MP0000467_abnormal_esophagus_morphology0.74560837
71MP0002168_other_aberrant_phenotype0.73947307
72MP0002876_abnormal_thyroid_physiology0.73229383
73MP0003448_altered_tumor_morphology0.71860591
74MP0005409_darkened_coat_color0.71691245
75MP0004019_abnormal_vitamin_homeostasis0.71555751
76MP0009053_abnormal_anal_canal0.70576230
77MP0001849_ear_inflammation0.70096115
78MP0002115_abnormal_skeleton_extremities0.68928355
79MP0005165_increased_susceptibility_to0.68615180
80MP0005623_abnormal_meninges_morphology0.68583484
81MP0003941_abnormal_skin_development0.66894631
82MP0009250_abnormal_appendicular_skeleto0.66651649
83MP0001915_intracranial_hemorrhage0.66296145
84MP0006138_congestive_heart_failure0.65699548
85MP0010386_abnormal_urinary_bladder0.65035163
86MP0000462_abnormal_digestive_system0.64870387
87MP0002118_abnormal_lipid_homeostasis0.64453784
88MP0001348_abnormal_lacrimal_gland0.61472142
89MP0001614_abnormal_blood_vessel0.60968014
90MP0000681_abnormal_thyroid_gland0.56601629
91MP0000003_abnormal_adipose_tissue0.56312618
92MP0000609_abnormal_liver_physiology0.56147378
93MP0000534_abnormal_ureter_morphology0.56049893
94MP0003795_abnormal_bone_structure0.55408367
95MP0005197_abnormal_uvea_morphology0.55014467
96MP0001175_abnormal_lung_morphology0.54902635
97MP0003115_abnormal_respiratory_system0.54448798
98MP0004782_abnormal_surfactant_physiolog0.51768132
99MP0003186_abnormal_redox_activity0.50843981
100MP0002113_abnormal_skeleton_development0.50554915

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.89032785
2Systemic lupus erythematosus (HP:0002725)6.08692682
3Premature rupture of membranes (HP:0001788)5.90062154
4* Complement deficiency (HP:0004431)5.89933101
5* Abnormality of complement system (HP:0005339)5.62177271
6Aortic aneurysm (HP:0004942)4.78816773
7Abnormality of monocarboxylic acid metabolism (HP:0010996)4.35070996
8Aortic dissection (HP:0002647)4.35009456
9Vascular tortuosity (HP:0004948)4.20639649
10Ankle contracture (HP:0006466)4.14499057
11Deep venous thrombosis (HP:0002625)3.88860970
12Broad metatarsal (HP:0001783)3.83590610
13Follicular hyperkeratosis (HP:0007502)3.75998737
14Glomerulonephritis (HP:0000099)3.75884644
15Soft skin (HP:0000977)3.71136980
16Bladder diverticulum (HP:0000015)3.64368028
17Type 1 muscle fiber predominance (HP:0003803)3.61011970
18Vertebral compression fractures (HP:0002953)3.58538129
19Cervical subluxation (HP:0003308)3.54566837
20Arterial tortuosity (HP:0005116)3.35426740
21Wormian bones (HP:0002645)3.19462068
22Atrophic scars (HP:0001075)3.10739609
23Peritonitis (HP:0002586)3.07991398
24Neonatal short-limb short stature (HP:0008921)3.01444315
25Dilatation of the ascending aorta (HP:0005111)2.98797051
26Mitral stenosis (HP:0001718)2.96240770
27Fragile skin (HP:0001030)2.94543534
28Shallow orbits (HP:0000586)2.93907771
29Spinal rigidity (HP:0003306)2.93447549
30Blue sclerae (HP:0000592)2.92366683
31Prolonged partial thromboplastin time (HP:0003645)2.91830173
32Cerebral aneurysm (HP:0004944)2.91658999
33Slender build (HP:0001533)2.90590726
34Increased variability in muscle fiber diameter (HP:0003557)2.87944845
35Wrist flexion contracture (HP:0001239)2.76666585
36Biconcave vertebral bodies (HP:0004586)2.76319802
37Joint hemorrhage (HP:0005261)2.63650900
38Abnormality of dentin (HP:0010299)2.63481408
39* Nephritis (HP:0000123)2.63261919
40Aneurysm (HP:0002617)2.63124842
41Hyperlipoproteinemia (HP:0010980)2.58762871
42Abnormal delivery (HP:0001787)2.56260288
43Increased connective tissue (HP:0009025)2.55819405
44Conjugated hyperbilirubinemia (HP:0002908)2.55633051
45Spondylolisthesis (HP:0003302)2.53990436
46Xanthomatosis (HP:0000991)2.49244649
47Mitral valve prolapse (HP:0001634)2.47784876
48Mildly elevated creatine phosphokinase (HP:0008180)2.47430497
49Abnormality of aromatic amino acid family metabolism (HP:0004338)2.47058208
50Joint stiffness (HP:0001387)2.45253461
51Genu recurvatum (HP:0002816)2.45199585
52Osteolytic defects of the phalanges of the hand (HP:0009771)2.43637724
53Osteolytic defects of the hand bones (HP:0009699)2.43637724
54Abnormality of skeletal muscle fiber size (HP:0012084)2.37158115
55Aortic regurgitation (HP:0001659)2.36656982
56Joint laxity (HP:0001388)2.36467113
57Abnormality of glutamine family amino acid metabolism (HP:0010902)2.33665888
58Hyperextensible skin (HP:0000974)2.31781789
59Overgrowth (HP:0001548)2.27242863
60Emphysema (HP:0002097)2.20773288
61Aortic valve stenosis (HP:0001650)2.19964611
62Hypobetalipoproteinemia (HP:0003563)2.18699239
63Bowel diverticulosis (HP:0005222)2.18077952
64Abnormality of the acetabulum (HP:0003170)2.15240591
65Cardiovascular calcification (HP:0011915)2.15196165
66Wide anterior fontanel (HP:0000260)2.13328385
67Intrahepatic cholestasis (HP:0001406)2.12155903
68Mitral regurgitation (HP:0001653)2.06481180
69Nonimmune hydrops fetalis (HP:0001790)2.04003557
70Hypoalphalipoproteinemia (HP:0003233)2.02780952
71Ectopia lentis (HP:0001083)1.98775566
72Pulmonary artery stenosis (HP:0004415)1.98301421
73Coronal craniosynostosis (HP:0004440)1.97306882
74Striae distensae (HP:0001065)1.96724253
75Abnormality of the intrinsic pathway (HP:0010989)1.95484319
76Persistence of primary teeth (HP:0006335)1.91107936
77Abnormality of the common coagulation pathway (HP:0010990)1.90341376
78Ovoid vertebral bodies (HP:0003300)1.88940326
79Skin nodule (HP:0200036)1.88552778
80Hemorrhage of the eye (HP:0011885)1.87251490
81Recurrent gram-negative bacterial infections (HP:0005420)1.86113317
82Hypoventilation (HP:0002791)1.85224545
83Mucopolysacchariduria (HP:0008155)1.85020461
84Urinary glycosaminoglycan excretion (HP:0003541)1.85020461
85Hydroxyprolinuria (HP:0003080)1.84524062
86Abnormality of proline metabolism (HP:0010907)1.84524062
87Hypolipoproteinemia (HP:0010981)1.84052611
88Coxa vara (HP:0002812)1.83767158
89Elbow flexion contracture (HP:0002987)1.83652886
90Round ear (HP:0100830)1.81997092
91Osteoarthritis (HP:0002758)1.81229800
92Gingival overgrowth (HP:0000212)1.80476519
93Ulnar bowing (HP:0003031)1.79283817
94Abnormality of the Achilles tendon (HP:0005109)1.78657555
95Generalized amyotrophy (HP:0003700)1.78028442
96Abnormality of mucopolysaccharide metabolism (HP:0011020)1.75383986
97Abnormality of polysaccharide metabolism (HP:0011012)1.75383986
98Abnormality of glycosaminoglycan metabolism (HP:0004371)1.75383986
99Turricephaly (HP:0000262)1.75092149
100Mild short stature (HP:0003502)1.74779674

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.70700003
2MYLK4.41895562
3PDGFRA3.91571170
4RIPK13.33995093
5DDR23.30365141
6TRIB32.49356599
7FGFR42.39190891
8TGFBR22.36395154
9EPHA32.14098876
10SIK12.12917413
11EPHB22.07219568
12CDC42BPA2.06412007
13KIT1.99968342
14TTN1.94619001
15EPHB11.90294198
16NEK91.78998302
17TYK21.71396613
18NTRK11.67611300
19TESK11.63551552
20JAK11.60428819
21MAP3K61.59374256
22PDGFRB1.53937562
23PAK21.53385648
24LATS21.49422364
25PTK21.48173503
26ABL21.43130640
27PRPF4B1.40063158
28MST1R1.34321374
29PRKD21.33481150
30PIK3CG1.32156108
31MAPK71.25400066
32MET1.23943535
33AKT31.18845018
34MAP3K31.12846316
35LATS11.11564719
36GRK11.09527419
37GRK51.08258791
38FGFR31.01990579
39PAK41.01118593
40STK380.98611770
41ADRBK10.91323006
42DMPK0.90644236
43FER0.88815876
44NLK0.85931644
45MAPKAPK30.84809358
46TRPM70.81911640
47MAP3K70.81222191
48TBK10.80886898
49PRKG20.75340225
50PKN20.74682213
51LIMK10.74326213
52ZAP700.74323550
53RPS6KA20.73601482
54PRKD10.72250775
55MTOR0.71932070
56TIE10.71773234
57JAK30.71722309
58ROCK10.65146356
59HIPK20.63719337
60LMTK20.62737880
61ERBB40.62438418
62PIK3CA0.62438048
63ROCK20.61964568
64DAPK30.61101832
65MARK20.59336906
66RET0.57252945
67PDPK10.57146711
68MAPK40.56314869
69GSK3A0.55389758
70CAMK2G0.53811560
71SMG10.53415741
72PRKAA20.53044924
73ICK0.52864693
74ILK0.52634249
75EEF2K0.51679984
76PTK2B0.50794709
77MAP3K10.50789550
78FLT30.50130351
79GRK60.48620572
80RPS6KC10.47315423
81RPS6KL10.47315423
82MAPK110.46351673
83MAPK120.45706361
84PTK60.45595883
85BMX0.44272484
86SRC0.43206298
87EPHA20.40489831
88KSR20.39982572
89MAP2K10.39873206
90GRK70.39353883
91MAP2K30.39293382
92PIM20.39289211
93ADRBK20.38193360
94PRKACG0.38005918
95MELK0.37699950
96TGFBR10.37541808
97JAK20.34998008
98MAP3K20.34703629
99TAOK20.34120428
100RPS6KA60.33300402

Predicted pathways (KEGG)

RankGene SetZ-score
1* Complement and coagulation cascades_Homo sapiens_hsa046104.40911545
2Caffeine metabolism_Homo sapiens_hsa002323.10992975
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.04276350
4Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.86570286
5Retinol metabolism_Homo sapiens_hsa008302.83038326
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.53707916
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.53144914
8Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.40874388
9Chemical carcinogenesis_Homo sapiens_hsa052042.32665482
10Tyrosine metabolism_Homo sapiens_hsa003502.23661570
11Phenylalanine metabolism_Homo sapiens_hsa003602.21156747
12ECM-receptor interaction_Homo sapiens_hsa045122.16643989
13Fatty acid degradation_Homo sapiens_hsa000712.12343539
14* Staphylococcus aureus infection_Homo sapiens_hsa051502.07917601
15Arginine biosynthesis_Homo sapiens_hsa002202.07510158
16Steroid hormone biosynthesis_Homo sapiens_hsa001402.05870050
17Cyanoamino acid metabolism_Homo sapiens_hsa004602.04639734
18Histidine metabolism_Homo sapiens_hsa003402.03157641
19Prion diseases_Homo sapiens_hsa050201.92966568
20Pentose and glucuronate interconversions_Homo sapiens_hsa000401.88833244
21Drug metabolism - other enzymes_Homo sapiens_hsa009831.70870335
22PPAR signaling pathway_Homo sapiens_hsa033201.67593382
23Bile secretion_Homo sapiens_hsa049761.63647279
24Glycosaminoglycan degradation_Homo sapiens_hsa005311.63582073
25Tryptophan metabolism_Homo sapiens_hsa003801.49260096
26Protein digestion and absorption_Homo sapiens_hsa049741.44861078
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.44505542
28Arachidonic acid metabolism_Homo sapiens_hsa005901.39735598
29Linoleic acid metabolism_Homo sapiens_hsa005911.33735133
30Focal adhesion_Homo sapiens_hsa045101.29256519
31Other glycan degradation_Homo sapiens_hsa005111.27228618
32Amoebiasis_Homo sapiens_hsa051461.24293963
33Starch and sucrose metabolism_Homo sapiens_hsa005001.22710413
34* Pertussis_Homo sapiens_hsa051331.05881439
35Fat digestion and absorption_Homo sapiens_hsa049750.98470104
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96961317
37Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96903944
38Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.92845076
39Vitamin B6 metabolism_Homo sapiens_hsa007500.88424865
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84056558
41ABC transporters_Homo sapiens_hsa020100.84043737
42beta-Alanine metabolism_Homo sapiens_hsa004100.83263234
43Butanoate metabolism_Homo sapiens_hsa006500.83110526
44Arginine and proline metabolism_Homo sapiens_hsa003300.80081333
45Malaria_Homo sapiens_hsa051440.79656451
46Renin-angiotensin system_Homo sapiens_hsa046140.79452832
47Sulfur metabolism_Homo sapiens_hsa009200.74141154
48AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.69087057
49Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.66890887
50Mineral absorption_Homo sapiens_hsa049780.63693976
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.61131042
52Proteoglycans in cancer_Homo sapiens_hsa052050.58323548
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.57674297
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57623963
55Dilated cardiomyopathy_Homo sapiens_hsa054140.56781509
56Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.54196484
57Peroxisome_Homo sapiens_hsa041460.54046685
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.52744329
592-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52660589
60Insulin resistance_Homo sapiens_hsa049310.51938794
61Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.50770903
62Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.49500307
63PI3K-Akt signaling pathway_Homo sapiens_hsa041510.48917319
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.45696241
65Adipocytokine signaling pathway_Homo sapiens_hsa049200.45599433
66Lysosome_Homo sapiens_hsa041420.45172440
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.44833944
68Galactose metabolism_Homo sapiens_hsa000520.43598099
69Biosynthesis of amino acids_Homo sapiens_hsa012300.43078164
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41443385
71Glycerolipid metabolism_Homo sapiens_hsa005610.38926150
72Pyruvate metabolism_Homo sapiens_hsa006200.35783306
73Fructose and mannose metabolism_Homo sapiens_hsa000510.33389727
74Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32858041
75Carbon metabolism_Homo sapiens_hsa012000.32606816
76Regulation of actin cytoskeleton_Homo sapiens_hsa048100.31168954
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28289112
78Fatty acid metabolism_Homo sapiens_hsa012120.26831046
79TGF-beta signaling pathway_Homo sapiens_hsa043500.26104974
80Glutathione metabolism_Homo sapiens_hsa004800.25557379
81Lysine degradation_Homo sapiens_hsa003100.23968976
82Toxoplasmosis_Homo sapiens_hsa051450.23202390
83AMPK signaling pathway_Homo sapiens_hsa041520.21512419
84Leukocyte transendothelial migration_Homo sapiens_hsa046700.21456163
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.21183187
86Ovarian steroidogenesis_Homo sapiens_hsa049130.19994872
87Melanoma_Homo sapiens_hsa052180.19613594
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.19226534
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.17924052
90Pentose phosphate pathway_Homo sapiens_hsa000300.17868826
91Adherens junction_Homo sapiens_hsa045200.17504590
92Bladder cancer_Homo sapiens_hsa052190.16424820
93TNF signaling pathway_Homo sapiens_hsa046680.15992776
94Central carbon metabolism in cancer_Homo sapiens_hsa052300.15943161
95* Phagosome_Homo sapiens_hsa041450.15889502
96Vitamin digestion and absorption_Homo sapiens_hsa049770.15370776
97cGMP-PKG signaling pathway_Homo sapiens_hsa040220.15084846
98Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.14662768
99Small cell lung cancer_Homo sapiens_hsa052220.14374159
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.14370430

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