CTGF

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 mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell adhesion mediated by integrin (GO:0033627)6.66669198
2wound healing, spreading of epidermal cells (GO:0035313)6.25316729
3collagen fibril organization (GO:0030199)5.81880290
4endodermal cell differentiation (GO:0035987)5.55522012
5positive regulation of endothelial cell apoptotic process (GO:2000353)5.35879404
6wound healing, spreading of cells (GO:0044319)5.31160945
7sequestering of extracellular ligand from receptor (GO:0035581)5.16127611
8negative regulation of fatty acid transport (GO:2000192)5.00756143
9glomerular basement membrane development (GO:0032836)4.99873087
10regulation of plasminogen activation (GO:0010755)4.94308308
11negative regulation of fibrinolysis (GO:0051918)4.93519029
12epithelial cell-cell adhesion (GO:0090136)4.70758296
13regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.68394633
14skin morphogenesis (GO:0043589)4.58439534
15plasma membrane repair (GO:0001778)4.54257235
16glomerular visceral epithelial cell development (GO:0072015)4.37165562
17endocardial cushion development (GO:0003197)4.26557629
18protein heterotrimerization (GO:0070208)4.25539370
19stress fiber assembly (GO:0043149)4.23794027
20positive regulation of blood vessel endothelial cell migration (GO:0043536)4.22637091
21vascular endothelial growth factor signaling pathway (GO:0038084)4.20849601
22cell migration involved in sprouting angiogenesis (GO:0002042)4.15395235
23cellular response to vitamin D (GO:0071305)4.01065357
24cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.94346861
25regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.91937147
26glomerular epithelial cell development (GO:0072310)3.87212268
27substrate-dependent cell migration (GO:0006929)3.83743736
28cell-substrate junction assembly (GO:0007044)3.82308673
29retina vasculature morphogenesis in camera-type eye (GO:0061299)3.80939447
30* chondrocyte proliferation (GO:0035988)3.80854369
31basement membrane organization (GO:0071711)3.80482910
32negative regulation of smooth muscle cell migration (GO:0014912)3.72490855
33mesodermal cell differentiation (GO:0048333)3.71523316
34regulation of tight junction assembly (GO:2000810)3.70827944
35cellular response to vitamin (GO:0071295)3.70223375
36bone trabecula formation (GO:0060346)3.65841026
37cell migration involved in heart development (GO:0060973)3.65468607
38substrate adhesion-dependent cell spreading (GO:0034446)3.60172251
39apoptotic cell clearance (GO:0043277)3.59563916
40neuron projection extension involved in neuron projection guidance (GO:1902284)3.59266061
41axon extension involved in axon guidance (GO:0048846)3.59266061
42collagen metabolic process (GO:0032963)3.59110395
43adherens junction assembly (GO:0034333)3.58426551
44protein localization to cell surface (GO:0034394)3.56595133
45positive regulation of osteoblast proliferation (GO:0033690)3.56015868
46collagen catabolic process (GO:0030574)3.49163582
47blood vessel maturation (GO:0001955)3.44255418
48hippo signaling (GO:0035329)3.42958606
49chondrocyte development (GO:0002063)3.40752794
50multicellular organismal macromolecule metabolic process (GO:0044259)3.39885300
51cell proliferation involved in metanephros development (GO:0072203)3.39082664
52extracellular matrix disassembly (GO:0022617)3.38935046
53type B pancreatic cell proliferation (GO:0044342)3.36878073
54protein retention in ER lumen (GO:0006621)3.35964955
55atrioventricular valve morphogenesis (GO:0003181)3.35393807
56regulation of transforming growth factor beta1 production (GO:0032908)3.35198679
57regulation of hippo signaling (GO:0035330)3.32872913
58renal filtration (GO:0097205)3.32200479
59peptidyl-proline hydroxylation (GO:0019511)3.31575808
60blood vessel endothelial cell migration (GO:0043534)3.31442256
61negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.30615341
62positive regulation of macrophage activation (GO:0043032)3.29814844
63cell proliferation involved in kidney development (GO:0072111)3.29106382
64positive regulation of fibroblast migration (GO:0010763)3.28698172
65regulation of fibrinolysis (GO:0051917)3.25526687
66multicellular organismal catabolic process (GO:0044243)3.24722350
67negative regulation of cell junction assembly (GO:1901889)3.21937021
68negative regulation of adherens junction organization (GO:1903392)3.21937021
69negative regulation of focal adhesion assembly (GO:0051895)3.21937021
70dermatan sulfate biosynthetic process (GO:0030208)3.21679894
71positive regulation of extracellular matrix organization (GO:1903055)3.20797700
72multicellular organismal metabolic process (GO:0044236)3.18656883
73regulation of osteoblast proliferation (GO:0033688)3.14175137
74kidney mesenchyme development (GO:0072074)3.13739525
75metanephric mesenchyme development (GO:0072075)3.12860495
76mesenchymal-epithelial cell signaling (GO:0060638)3.12637011
77positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)3.10199850
78actin filament depolymerization (GO:0030042)3.07539007
79positive regulation of epithelial to mesenchymal transition (GO:0010718)3.06090586
80platelet degranulation (GO:0002576)3.05405813
81focal adhesion assembly (GO:0048041)3.04629488
82cell-substrate adherens junction assembly (GO:0007045)3.04629488
83planar cell polarity pathway involved in neural tube closure (GO:0090179)3.01901933
84endothelial cell morphogenesis (GO:0001886)3.01704184
85extracellular matrix organization (GO:0030198)3.01457884
86extracellular structure organization (GO:0043062)3.00262548
87lymphangiogenesis (GO:0001946)2.97413901
88protein hydroxylation (GO:0018126)2.93278713
89negative regulation of cell-matrix adhesion (GO:0001953)2.93206424
90craniofacial suture morphogenesis (GO:0097094)2.92550993
91negative regulation of cartilage development (GO:0061037)2.92281606
92extracellular fibril organization (GO:0043206)2.92102956
93negative regulation of anoikis (GO:2000811)2.91912374
94positive regulation of BMP signaling pathway (GO:0030513)2.90108267
95pathway-restricted SMAD protein phosphorylation (GO:0060389)2.89699956
96extracellular matrix assembly (GO:0085029)2.89195785
97response to fluid shear stress (GO:0034405)2.86869218
98neural crest cell development (GO:0014032)2.86726691
99Golgi transport vesicle coating (GO:0048200)2.86378365
100COPI coating of Golgi vesicle (GO:0048205)2.86378365
101dermatan sulfate metabolic process (GO:0030205)2.86223203
102sprouting angiogenesis (GO:0002040)2.84558406
103regulation of monocyte chemotaxis (GO:0090025)2.84202471
104maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.83871728
105keratan sulfate catabolic process (GO:0042340)2.83249439
106regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.83191098
107regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.82622767
108smooth muscle tissue development (GO:0048745)2.82479338
109negative regulation of embryonic development (GO:0045992)2.81384611
110positive regulation of p38MAPK cascade (GO:1900745)2.79353235
111fibril organization (GO:0097435)2.78566144
112muscle cell migration (GO:0014812)2.78469486
113venous blood vessel morphogenesis (GO:0048845)2.78274646
114positive regulation of cartilage development (GO:0061036)2.78196963
115vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.77010608
116endothelium development (GO:0003158)2.76785248
117cytoskeletal anchoring at plasma membrane (GO:0007016)2.76656998
118regulation of SMAD protein import into nucleus (GO:0060390)2.76415215
119cellular response to interferon-alpha (GO:0035457)2.75960278
120positive regulation of axon extension (GO:0045773)2.75545787
121* regulation of cartilage development (GO:0061035)2.74065467
122negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.74037344
123epoxygenase P450 pathway (GO:0019373)2.73524728
124positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.72683332
125positive regulation of endothelial cell migration (GO:0010595)2.71680905
126extracellular negative regulation of signal transduction (GO:1900116)2.71407380
127extracellular regulation of signal transduction (GO:1900115)2.71407380
128negative regulation of chondrocyte differentiation (GO:0032331)2.71276869
129positive regulation of monocyte chemotaxis (GO:0090026)2.71263162
130regulation of axon extension involved in axon guidance (GO:0048841)2.67217950
131artery development (GO:0060840)2.67188893
132virion attachment to host cell (GO:0019062)2.63955715
133adhesion of symbiont to host cell (GO:0044650)2.63955715
134cochlea morphogenesis (GO:0090103)2.63667129
135heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.63492372
136positive regulation of epithelial cell migration (GO:0010634)2.62733771
137regulation of glomerular filtration (GO:0003093)2.61669191

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.20816165
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.36271745
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse5.12328778
4CLOCK_20551151_ChIP-Seq_293T_Human3.26197601
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.19439533
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.09675398
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.03396550
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.99125494
9SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.80412266
10TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.75233259
11* CJUN_26792858_Chip-Seq_BT549_Human2.44876991
12HIF1A_21447827_ChIP-Seq_MCF-7_Human2.39416070
13* EP300_21415370_ChIP-Seq_HL-1_Mouse2.34328636
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.26257161
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.19654090
16WT1_19549856_ChIP-ChIP_CCG9911_Human2.17351088
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.15868388
18* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.14805072
19* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.14805072
20* BRD4_25478319_ChIP-Seq_HGPS_Human2.13917067
21WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.08996433
22PPAR_26484153_Chip-Seq_NCI-H1993_Human2.07430610
23CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.07361557
24EGR1_19374776_ChIP-ChIP_THP-1_Human2.06024409
25* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.03995048
26* ELK3_25401928_ChIP-Seq_HUVEC_Human2.03551852
27ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.00449839
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.96054018
29SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.87536278
30CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.85030640
31EED_16625203_ChIP-ChIP_MESCs_Mouse1.83354076
32ESR1_15608294_ChIP-ChIP_MCF-7_Human1.77771242
33JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.75864189
34SMAD_19615063_ChIP-ChIP_OVARY_Human1.74780194
35ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.73443585
36ATF3_27146783_Chip-Seq_COLON_Human1.73249485
37SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.72727281
38NRF2_20460467_ChIP-Seq_MEFs_Mouse1.72090840
39NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.72090840
40P300_27058665_Chip-Seq_ZR-75-30cells_Human1.65449280
41NFIB_24661679_ChIP-Seq_LUNG_Mouse1.65304257
42RNF2_18974828_ChIP-Seq_MESCs_Mouse1.63238854
43EZH2_18974828_ChIP-Seq_MESCs_Mouse1.63238854
44TP53_16413492_ChIP-PET_HCT116_Human1.62017454
45MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.59910372
46SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.57085802
47* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.56468678
48JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55959061
49RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.54830649
50SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.53141775
51* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.52345075
52TP53_22127205_ChIP-Seq_IMR90_Human1.51741754
53SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.51225515
54TP53_23651856_ChIP-Seq_MEFs_Mouse1.51102263
55* FOXO3_23340844_ChIP-Seq_DLD1_Human1.50941021
56SOX2_20726797_ChIP-Seq_SW620_Human1.50006926
57GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.49555623
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.46905947
59UBF1/2_26484160_Chip-Seq_HMECs_Human1.44426615
60TP53_20018659_ChIP-ChIP_R1E_Mouse1.42253489
61PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.42060883
62TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.42004815
63GATA2_21666600_ChIP-Seq_HMVEC_Human1.41425410
64THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39223209
65TP53_18474530_ChIP-ChIP_U2OS_Human1.38581348
66SOX9_24532713_ChIP-Seq_HFSC_Mouse1.38211656
67* TBX20_22328084_ChIP-Seq_HEART_Mouse1.37320052
68* TBX20_22080862_ChIP-Seq_HEART_Mouse1.37320052
69RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35397804
70ISL1_27105846_Chip-Seq_CPCs_Mouse1.33740637
71RACK7_27058665_Chip-Seq_MCF-7_Human1.32666543
72CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30007187
73HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.29599977
74KDM2B_26808549_Chip-Seq_SUP-B15_Human1.29156410
75ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.28942921
76UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.26607051
77RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25589091
78NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.23904704
79TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20827709
80ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19526165
81ZNF217_24962896_ChIP-Seq_MCF-7_Human1.18054763
82NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.15932482
83SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15494201
84* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.15459090
85* ELK1_22589737_ChIP-Seq_MCF10A_Human1.15437920
86KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14821295
87P63_26484246_Chip-Seq_KERATINOCYTES_Human1.14183994
88PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.11365331
89PIAS1_25552417_ChIP-Seq_VCAP_Human1.11148234
90FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.11005860
91MTF2_20144788_ChIP-Seq_MESCs_Mouse1.10920080
92ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.08795656
93TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08550332
94* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.06636702
95* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04653811
96JARID2_20075857_ChIP-Seq_MESCs_Mouse1.03979224
97HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.03038958
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02142139
99CTNNB1_20460455_ChIP-Seq_HCT116_Human1.01898458
100ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01068242
101ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99241101
102RNF2_27304074_Chip-Seq_ESCs_Mouse0.98930736
103* TCF3_18692474_ChIP-Seq_MEFs_Mouse0.98487045
104POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.98302111
105KLF5_25053715_ChIP-Seq_YYC3_Human0.97990667
106ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97646661
107AHR_22903824_ChIP-Seq_MCF-7_Human0.97269536
108KDM2B_26808549_Chip-Seq_K562_Human0.96705849
109* FOXA2_19822575_ChIP-Seq_HepG2_Human0.96570064
110* CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.96274906
111TBX3_20139965_ChIP-Seq_ESCs_Mouse0.95223181
112TBX3_20139965_ChIP-Seq_MESCs_Mouse0.95079900
113WT1_25993318_ChIP-Seq_PODOCYTE_Human0.94626722
114* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.94324840
115ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.91252909
116* CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90818789
117FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.90619368
118FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.90126709
119STAT6_21828071_ChIP-Seq_BEAS2B_Human0.90079094
120ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.89876037
121STAT3_1855785_ChIP-Seq_MESCs_Mouse0.89586461
122DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89070735
123SA1_22415368_ChIP-Seq_MEFs_Mouse0.88639701
124* NFI_21473784_ChIP-Seq_ESCs_Mouse0.87839584
125KDM2B_26808549_Chip-Seq_DND41_Human0.87772784
126* SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.87267360
127KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.85974186
128ESR1_20079471_ChIP-ChIP_T-47D_Human0.84080235
129RUNX1_27514584_Chip-Seq_MCF-7_Human0.84061675

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.68987535
2MP0005275_abnormal_skin_tensile4.45953636
3MP0005623_abnormal_meninges_morphology4.02404054
4MP0003279_aneurysm4.00261266
5MP0005503_abnormal_tendon_morphology3.97717650
6MP0003705_abnormal_hypodermis_morpholog3.76216325
7MP0004272_abnormal_basement_membrane3.33378655
8MP0003566_abnormal_cell_adhesion3.27368855
9MP0010352_gastrointestinal_tract_polyps3.27166699
10MP0001958_emphysema3.05048035
11MP0009384_cardiac_valve_regurgitation2.38311295
12MP0003091_abnormal_cell_migration2.37195962
13MP0005023_abnormal_wound_healing2.34774503
14MP0006054_spinal_hemorrhage2.24269534
15MP0002295_abnormal_pulmonary_circulatio2.10629455
16MP0010368_abnormal_lymphatic_system2.05159273
17MP0001348_abnormal_lacrimal_gland2.02886638
18MP0005257_abnormal_intraocular_pressure1.95138631
19MP0000013_abnormal_adipose_tissue1.93656701
20MP0005508_abnormal_skeleton_morphology1.85099826
21MP0010030_abnormal_orbit_morphology1.78250197
22MP0004084_abnormal_cardiac_muscle1.77217147
23MP0003941_abnormal_skin_development1.66358271
24MP0002060_abnormal_skin_morphology1.64438185
25MP0000767_abnormal_smooth_muscle1.63635804
26MP0001243_abnormal_dermal_layer1.50642722
27MP0003385_abnormal_body_wall1.49424433
28MP0009053_abnormal_anal_canal1.49325710
29MP0001542_abnormal_bone_strength1.48894240
30MP0003283_abnormal_digestive_organ1.46357980
31MP0000733_abnormal_muscle_development1.46026796
32MP0000750_abnormal_muscle_regeneration1.37791762
33MP0002896_abnormal_bone_mineralization1.34647193
34MP0002877_abnormal_melanocyte_morpholog1.33978655
35MP0001299_abnormal_eye_distance/1.33260133
36MP0006138_congestive_heart_failure1.27932517
37MP0003942_abnormal_urinary_system1.23444018
38MP0003045_fibrosis1.21790721
39MP0002108_abnormal_muscle_morphology1.19039502
40MP0001879_abnormal_lymphatic_vessel1.18071468
41MP0002282_abnormal_trachea_morphology1.17625361
42MP0002128_abnormal_blood_circulation1.17154580
43MP0005084_abnormal_gallbladder_morpholo1.17113045
44MP0000534_abnormal_ureter_morphology1.15757248
45MP0003115_abnormal_respiratory_system1.15058357
46MP0002168_other_aberrant_phenotype1.11592360
47* MP0009250_abnormal_appendicular_skeleto1.08128376
48MP0004087_abnormal_muscle_fiber1.07482846
49MP0000751_myopathy1.06374150
50MP0005330_cardiomyopathy1.05161957
51* MP0001614_abnormal_blood_vessel1.03314839
52* MP0000163_abnormal_cartilage_morphology1.01861992
53MP0000537_abnormal_urethra_morphology1.01467734
54MP0000049_abnormal_middle_ear0.98866312
55MP0000003_abnormal_adipose_tissue0.98253213
56MP0008775_abnormal_heart_ventricle0.97952832
57MP0004858_abnormal_nervous_system0.97783804
58MP0000749_muscle_degeneration0.97465704
59MP0004134_abnormal_chest_morphology0.96152608
60MP0005171_absent_coat_pigmentation0.94540275
61* MP0005390_skeleton_phenotype0.94445227
62MP0002932_abnormal_joint_morphology0.93461573
63MP0002933_joint_inflammation0.93217083
64MP0010630_abnormal_cardiac_muscle0.90588061
65MP0001915_intracranial_hemorrhage0.90354664
66MP0005595_abnormal_vascular_smooth0.89260610
67* MP0002113_abnormal_skeleton_development0.87913921
68* MP0002925_abnormal_cardiovascular_devel0.87613271
69MP0000747_muscle_weakness0.85679059
70MP0000428_abnormal_craniofacial_morphol0.84519620
71MP0001849_ear_inflammation0.84286004
72MP0002089_abnormal_postnatal_growth/wei0.84104901
73* MP0002115_abnormal_skeleton_extremities0.83523624
74MP0002972_abnormal_cardiac_muscle0.83076856
75* MP0003755_abnormal_palate_morphology0.82089424
76MP0005620_abnormal_muscle_contractility0.81951468
77MP0002928_abnormal_bile_duct0.81493340
78MP0010386_abnormal_urinary_bladder0.80627817
79MP0004036_abnormal_muscle_relaxation0.80453560
80MP0004233_abnormal_muscle_weight0.80246453
81MP0000467_abnormal_esophagus_morphology0.79888291
82MP0005193_abnormal_anterior_eye0.79758185
83MP0003300_gastrointestinal_ulcer0.79508199
84MP0002092_abnormal_eye_morphology0.79283896
85* MP0002116_abnormal_craniofacial_bone0.79221794
86MP0005388_respiratory_system_phenotype0.79188995
87MP0002133_abnormal_respiratory_system0.79188995
88MP0001544_abnormal_cardiovascular_syste0.78845248
89MP0005385_cardiovascular_system_phenoty0.78845248
90MP0000759_abnormal_skeletal_muscle0.76970033
91MP0005164_abnormal_response_to0.76556013
92MP0000462_abnormal_digestive_system0.76505094
93MP0008004_abnormal_stomach_pH0.76195043
94MP0002998_abnormal_bone_remodeling0.76082340
95MP0001175_abnormal_lung_morphology0.75658329
96MP0003950_abnormal_plasma_membrane0.75602959
97MP0000858_altered_metastatic_potential0.73648113
98MP0002697_abnormal_eye_size0.73201445
99MP0003828_pulmonary_edema0.71257877
100MP0000266_abnormal_heart_morphology0.70993467
101MP0002269_muscular_atrophy0.70986689
102MP0005197_abnormal_uvea_morphology0.69467518
103* MP0003935_abnormal_craniofacial_develop0.69348193
104MP0004883_abnormal_blood_vessel0.69249271
105MP0003448_altered_tumor_morphology0.69183197
106* MP0000432_abnormal_head_morphology0.68317023
107MP0005165_increased_susceptibility_to0.66876534
108MP0005076_abnormal_cell_differentiation0.66854092
109MP0000762_abnormal_tongue_morphology0.66800514
110MP0003937_abnormal_limbs/digits/tail_de0.64153806
111MP0009780_abnormal_chondrocyte_physiolo0.62633495
112* MP0002109_abnormal_limb_morphology0.62328586
113MP0000343_altered_response_to0.62186544
114* MP0002114_abnormal_axial_skeleton0.62066662
115* MP0003795_abnormal_bone_structure0.61916597
116MP0000249_abnormal_blood_vessel0.60270973
117MP0005409_darkened_coat_color0.59364970
118MP0000538_abnormal_urinary_bladder0.58200592
119MP0001270_distended_abdomen0.55724706

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)8.21692980
2Protrusio acetabuli (HP:0003179)7.67377983
3Aortic dissection (HP:0002647)4.99943215
4Shallow orbits (HP:0000586)4.77240282
5Peritonitis (HP:0002586)4.76924358
6Atrophic scars (HP:0001075)4.68152672
7Cerebral aneurysm (HP:0004944)4.37062642
8Aortic aneurysm (HP:0004942)4.12435152
9Dilatation of the ascending aorta (HP:0005111)3.92442768
10Abnormality of dentin (HP:0010299)3.92014820
11Soft skin (HP:0000977)3.91479786
12Fragile skin (HP:0001030)3.85921275
13Ankle contracture (HP:0006466)3.70061414
14Cervical subluxation (HP:0003308)3.68065552
15Bladder diverticulum (HP:0000015)3.67796314
16Broad metatarsal (HP:0001783)3.41787343
17Wormian bones (HP:0002645)3.41047634
18Genu recurvatum (HP:0002816)3.37509964
19Increased connective tissue (HP:0009025)3.32978148
20Blue sclerae (HP:0000592)3.20875674
21Mitral valve prolapse (HP:0001634)3.14032654
22Neonatal short-limb short stature (HP:0008921)3.12623513
23Follicular hyperkeratosis (HP:0007502)3.10255903
24Wrist flexion contracture (HP:0001239)3.09664748
25Spinal rigidity (HP:0003306)3.07801997
26Short nail (HP:0001799)2.94327168
27Vertebral compression fractures (HP:0002953)2.91755394
28Biconcave vertebral bodies (HP:0004586)2.85490993
29Muscle fiber splitting (HP:0003555)2.84337912
30Bowel diverticulosis (HP:0005222)2.80774413
31Right ventricular cardiomyopathy (HP:0011663)2.72637722
32Distal upper limb amyotrophy (HP:0007149)2.68941214
33Upper limb amyotrophy (HP:0009129)2.68941214
34Vascular tortuosity (HP:0004948)2.68741684
35Difficulty climbing stairs (HP:0003551)2.66170813
36Aneurysm (HP:0002617)2.62839492
37Abnormal delivery (HP:0001787)2.62526808
38Cardiovascular calcification (HP:0011915)2.59752980
39Aortic valve stenosis (HP:0001650)2.57297012
40Radial bowing (HP:0002986)2.57117924
41Abnormality of the calcaneus (HP:0008364)2.52937724
42Increased density of long bones (HP:0006392)2.47325033
43Abnormality of the acetabulum (HP:0003170)2.46332988
44Elbow flexion contracture (HP:0002987)2.45585311
45Hyperextensible skin (HP:0000974)2.44972654
46Infantile muscular hypotonia (HP:0008947)2.44276856
47Mesomelia (HP:0003027)2.44084807
48Round ear (HP:0100830)2.43135037
49Type 1 muscle fiber predominance (HP:0003803)2.40721863
50Ectopia lentis (HP:0001083)2.39672565
51Scapular winging (HP:0003691)2.39533769
52Disproportionate tall stature (HP:0001519)2.32729463
53Broad face (HP:0000283)2.29157801
54Abnormality of the peritoneum (HP:0002585)2.28774622
55Mitral stenosis (HP:0001718)2.28266618
56Knee flexion contracture (HP:0006380)2.27240147
57Osteolytic defects of the hand bones (HP:0009699)2.26900668
58Osteolytic defects of the phalanges of the hand (HP:0009771)2.26900668
59Renal duplication (HP:0000075)2.26052151
60Distal lower limb amyotrophy (HP:0008944)2.25915534
61Tibial bowing (HP:0002982)2.25873933
62Bowed forearm bones (HP:0003956)2.21530512
63Bowing of the arm (HP:0006488)2.21530512
64Thin bony cortex (HP:0002753)2.21116787
65Ulnar bowing (HP:0003031)2.20630695
66Mitral regurgitation (HP:0001653)2.19593518
67Hyporeflexia of lower limbs (HP:0002600)2.17895429
68Increased variability in muscle fiber diameter (HP:0003557)2.17214258
69Mild short stature (HP:0003502)2.16925177
70Focal segmental glomerulosclerosis (HP:0000097)2.16351094
71Overgrowth (HP:0001548)2.13393502
72Arterial tortuosity (HP:0005116)2.12638864
73Wide anterior fontanel (HP:0000260)2.10813559
74Slender build (HP:0001533)2.10649620
75Pulmonary artery stenosis (HP:0004415)2.07522421
76Deviation of the hallux (HP:0010051)2.07473007
77Fused cervical vertebrae (HP:0002949)2.05465978
78Hallux valgus (HP:0001822)2.05227987
79Coxa vara (HP:0002812)2.04576239
80Inguinal hernia (HP:0000023)2.04384587
81Joint laxity (HP:0001388)2.04292661
82Mesangial abnormality (HP:0001966)2.04134783
83Spinal cord compression (HP:0002176)2.03029184
84Ovoid vertebral bodies (HP:0003300)2.02679894
85Hand muscle atrophy (HP:0009130)2.02164284
86Femoral bowing (HP:0002980)1.96211878
87Buphthalmos (HP:0000557)1.96055144
88Flared iliac wings (HP:0002869)1.95325203
89Hypoplasia of the iris (HP:0007676)1.94644836
90Venous abnormality (HP:0002624)1.94614931
91Congenital glaucoma (HP:0001087)1.94081369
92Abnormality of carpal bone ossification (HP:0006257)1.92756999
93Abnormality of skeletal muscle fiber size (HP:0012084)1.92211116
94Increased mean platelet volume (HP:0011877)1.90957739
95Broad ribs (HP:0000885)1.90682525
96Distal lower limb muscle weakness (HP:0009053)1.89559160
97Premature skin wrinkling (HP:0100678)1.89295976
98Platyspondyly (HP:0000926)1.89033962
99Abnormal ossification of hand bones (HP:0005921)1.88792350
100Mildly elevated creatine phosphokinase (HP:0008180)1.88334383
101Hip contracture (HP:0003273)1.87305442
102Limited hip movement (HP:0008800)1.85648073
103Hypoventilation (HP:0002791)1.85138760
104Tarsal synostosis (HP:0008368)1.84108255
105Nonimmune hydrops fetalis (HP:0001790)1.84040327
106Arachnodactyly (HP:0001166)1.83957999
107Flat acetabular roof (HP:0003180)1.81545524
108Aortic regurgitation (HP:0001659)1.81298276
109Venous insufficiency (HP:0005293)1.80107417
110Breech presentation (HP:0001623)1.79963825
111Persistence of primary teeth (HP:0006335)1.79639485
112Cupped ribs (HP:0000887)1.79423416
113Spondylolisthesis (HP:0003302)1.78888674
114Protruding ear (HP:0000411)1.78403819
115Broad long bones (HP:0005622)1.78263405
116Joint stiffness (HP:0001387)1.78240644
117Short hallux (HP:0010109)1.77303546
118Abnormal vertebral ossification (HP:0100569)1.76934334
119Bronchomalacia (HP:0002780)1.76584863
120Abnormality of the anterior chamber (HP:0000593)1.75344308
121Absent frontal sinuses (HP:0002688)1.74771949
122Osteoarthritis (HP:0002758)1.74656606
123Coronal craniosynostosis (HP:0004440)1.72572068
124* Camptodactyly of toe (HP:0001836)1.71773367
125Vascular calcification (HP:0004934)1.71035811
126Delayed closure of the anterior fontanelle (HP:0001476)1.69592664
127Delayed cranial suture closure (HP:0000270)1.65649799
128Striae distensae (HP:0001065)1.64329150
129Increased corneal curvature (HP:0100692)1.63003131
130Keratoconus (HP:0000563)1.63003131

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.78176654
2DDR23.50784660
3TRIB33.48875402
4EPHA23.27662367
5LATS23.04247664
6PDGFRA2.77218574
7LATS12.71649938
8TESK12.58184081
9EPHB22.43332044
10PAK22.42068497
11PKN22.32867439
12MYLK2.31715728
13PTK22.20510819
14LIMK12.20414535
15PAK32.16644530
16TRPM72.01224312
17ERN12.00549265
18MAPK151.90506127
19BMX1.82867115
20DMPK1.77239413
21RIPK11.68808375
22PIK3CA1.61323268
23ICK1.61243594
24LRRK21.60645106
25STK38L1.58585870
26PAK41.57307036
27PTK2B1.54637360
28FER1.54344332
29PIK3CG1.47162353
30PIM21.44492658
31PNCK1.41102796
32MAPKAPK31.37838299
33KDR1.37172897
34FGFR41.34414376
35PTK61.33714283
36TGFBR21.33603046
37FLT31.28678480
38ROCK11.23459097
39CDK81.16380606
40RPS6KA41.14401563
41ILK1.09060350
42TESK21.06287224
43WNK41.04467700
44MAP3K31.01937760
45MOS1.00722993
46STK30.99673479
47MTOR0.99225364
48MET0.99175540
49STK100.98435355
50FGFR10.94202920
51DAPK30.93063778
52CDC42BPA0.90211110
53PDGFRB0.89294333
54ERBB30.89208933
55MAP2K10.85488167
56WNK10.81346650
57MAP3K120.78832761
58AKT30.78083519
59ERBB40.76455148
60TGFBR10.76378601
61PRKD10.76027292
62GSK3A0.75812134
63NTRK10.75185042
64ROCK20.72298403
65MELK0.72151653
66PRKG20.69575241
67INSR0.69324121
68SIK10.69306989
69RPS6KA20.68226523
70PAK10.67841526
71ABL20.66875667
72BRSK20.65534885
73RPS6KB20.62421696
74MAPK70.62196539
75MAP2K30.60893288
76MAP3K80.60695730
77MAP3K70.58084753
78NEK90.57632913
79STK240.57170494
80TIE10.56859832
81TAOK10.56748164
82EPHB10.56745684
83EPHA30.55608195
84PRKD20.54889718
85ADRBK10.54399814
86PDK20.52833625
87MAP3K60.52625170
88NEK10.52569741
89RET0.52519124
90CDK120.52399766
91EEF2K0.51020793
92STK380.49982591
93FGFR30.49371732
94NME20.47196410
95MAP3K100.43497707
96SRC0.41937549
97GRK70.41850190
98PRKCH0.41677262
99PRKD30.40042977
100PAK60.39834928
101MAPKAPK20.37507220
102LMTK20.37298525
103PRKCE0.37235157
104TAOK20.36989063
105PDK30.36738024
106PDK40.36738024
107CDK140.36139806
108KIT0.36083585
109CDK90.34822054
110SCYL20.34690633
111STK390.34012824
112FRK0.33486696
113MAP3K110.32802987
114CDK150.32087943
115SMG10.30693060
116EGFR0.30304536
117WEE10.30140277
118DYRK1B0.28962520
119ARAF0.27824168
120PLK20.27196004
121CDK180.26765352
122CDK11A0.25820244
123CAMK2G0.25379614
124ABL10.25199972
125CDK60.25116133
126CAMKK10.23695530
127CAMK1G0.23124199
128CAMK2D0.21352543
129TYRO30.21351328
130IGF1R0.21327864
131MARK20.20870832
132BRSK10.15898597

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.85337556
2Focal adhesion_Homo sapiens_hsa045103.69967591
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.04272481
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.01975951
5Dilated cardiomyopathy_Homo sapiens_hsa054142.88854436
6Bladder cancer_Homo sapiens_hsa052192.79251990
7Amoebiasis_Homo sapiens_hsa051462.63905346
8Proteoglycans in cancer_Homo sapiens_hsa052052.63456142
9Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.54604278
10Small cell lung cancer_Homo sapiens_hsa052222.45516894
11Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.41602138
12AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.35512888
13Adherens junction_Homo sapiens_hsa045202.34864514
14Glycosaminoglycan degradation_Homo sapiens_hsa005312.32381307
15Protein digestion and absorption_Homo sapiens_hsa049742.10222655
16TGF-beta signaling pathway_Homo sapiens_hsa043502.04803212
17Regulation of actin cytoskeleton_Homo sapiens_hsa048102.00818808
18* Hippo signaling pathway_Homo sapiens_hsa043901.94069451
19p53 signaling pathway_Homo sapiens_hsa041151.88747715
20MicroRNAs in cancer_Homo sapiens_hsa052061.86803658
21Shigellosis_Homo sapiens_hsa051311.81828296
22Malaria_Homo sapiens_hsa051441.76357625
23Leukocyte transendothelial migration_Homo sapiens_hsa046701.72184308
24PI3K-Akt signaling pathway_Homo sapiens_hsa041511.71685564
25Tight junction_Homo sapiens_hsa045301.55697353
26Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.47317521
27Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.39863771
28Chronic myeloid leukemia_Homo sapiens_hsa052201.36060251
29Rap1 signaling pathway_Homo sapiens_hsa040151.28924804
30Viral myocarditis_Homo sapiens_hsa054161.25739987
31Melanoma_Homo sapiens_hsa052181.22279838
32Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.18003478
33Basal cell carcinoma_Homo sapiens_hsa052171.10814496
34Platelet activation_Homo sapiens_hsa046111.09964486
35Pathways in cancer_Homo sapiens_hsa052001.03778317
36Axon guidance_Homo sapiens_hsa043601.02674894
37Salmonella infection_Homo sapiens_hsa051321.01862039
38HIF-1 signaling pathway_Homo sapiens_hsa040660.99709734
39Phagosome_Homo sapiens_hsa041450.95836528
40Pancreatic cancer_Homo sapiens_hsa052120.94584121
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93575628
42Other glycan degradation_Homo sapiens_hsa005110.92795737
43Glioma_Homo sapiens_hsa052140.90765164
44Toxoplasmosis_Homo sapiens_hsa051450.90456925
45Renal cell carcinoma_Homo sapiens_hsa052110.88001505
46Hedgehog signaling pathway_Homo sapiens_hsa043400.87345406
47Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.84206704
48TNF signaling pathway_Homo sapiens_hsa046680.83894335
49Prostate cancer_Homo sapiens_hsa052150.82828375
50Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.80541244
51HTLV-I infection_Homo sapiens_hsa051660.78265815
52VEGF signaling pathway_Homo sapiens_hsa043700.75759859
53Gap junction_Homo sapiens_hsa045400.75719187
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.74515029
55Apoptosis_Homo sapiens_hsa042100.71649443
56Complement and coagulation cascades_Homo sapiens_hsa046100.67252321
57Wnt signaling pathway_Homo sapiens_hsa043100.64853036
58Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63767988
59Endocytosis_Homo sapiens_hsa041440.61306161
60Central carbon metabolism in cancer_Homo sapiens_hsa052300.60695104
61Melanogenesis_Homo sapiens_hsa049160.58252479
62Ras signaling pathway_Homo sapiens_hsa040140.57281587
63Cocaine addiction_Homo sapiens_hsa050300.56750135
64Leishmaniasis_Homo sapiens_hsa051400.54163046
65Viral carcinogenesis_Homo sapiens_hsa052030.53644813
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.52306131
67MAPK signaling pathway_Homo sapiens_hsa040100.52011672
68Estrogen signaling pathway_Homo sapiens_hsa049150.51557253
69Colorectal cancer_Homo sapiens_hsa052100.51236324
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.50864376
71GnRH signaling pathway_Homo sapiens_hsa049120.48299604
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.45799651
73Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45703725
74FoxO signaling pathway_Homo sapiens_hsa040680.45418023
75Thyroid hormone synthesis_Homo sapiens_hsa049180.45364873
76Ovarian steroidogenesis_Homo sapiens_hsa049130.44980168
77mTOR signaling pathway_Homo sapiens_hsa041500.44910025
78Cyanoamino acid metabolism_Homo sapiens_hsa004600.44218734
79ErbB signaling pathway_Homo sapiens_hsa040120.43493832
80Endometrial cancer_Homo sapiens_hsa052130.43073348
81Hepatitis B_Homo sapiens_hsa051610.42431447
82cGMP-PKG signaling pathway_Homo sapiens_hsa040220.41991176
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41865208
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41511733
85Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.40997837
86Sulfur metabolism_Homo sapiens_hsa009200.39826358
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39118216
88Sphingolipid metabolism_Homo sapiens_hsa006000.39058248
89Pertussis_Homo sapiens_hsa051330.38775735
90Galactose metabolism_Homo sapiens_hsa000520.38622093
91Renin-angiotensin system_Homo sapiens_hsa046140.38334308
92Sulfur relay system_Homo sapiens_hsa041220.38148006
93Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36809176
94Lysosome_Homo sapiens_hsa041420.36215864
95Oxytocin signaling pathway_Homo sapiens_hsa049210.35994575
96Glutathione metabolism_Homo sapiens_hsa004800.35988438
97Thyroid hormone signaling pathway_Homo sapiens_hsa049190.35545619
98N-Glycan biosynthesis_Homo sapiens_hsa005100.35069914
99cAMP signaling pathway_Homo sapiens_hsa040240.34608185
100Vibrio cholerae infection_Homo sapiens_hsa051100.34382911
101Notch signaling pathway_Homo sapiens_hsa043300.33225559
102Prion diseases_Homo sapiens_hsa050200.32955915
103PPAR signaling pathway_Homo sapiens_hsa033200.30708311
104Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.30287090
105Insulin resistance_Homo sapiens_hsa049310.29842524
106Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.28995879
107Thyroid cancer_Homo sapiens_hsa052160.28088486
108AMPK signaling pathway_Homo sapiens_hsa041520.27774021
109Choline metabolism in cancer_Homo sapiens_hsa052310.27695599
110Selenocompound metabolism_Homo sapiens_hsa004500.27140153
111Dorso-ventral axis formation_Homo sapiens_hsa043200.27058456
112Lysine degradation_Homo sapiens_hsa003100.26999170
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25598134
114Adipocytokine signaling pathway_Homo sapiens_hsa049200.24964020
115Glucagon signaling pathway_Homo sapiens_hsa049220.24942235
1162-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.24815321
117Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24348998
118Osteoclast differentiation_Homo sapiens_hsa043800.21904894

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