LOX

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 member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* collagen fibril organization (GO:0030199)7.77967414
2protein heterotrimerization (GO:0070208)7.75162575
3chondrocyte proliferation (GO:0035988)7.39136689
4sequestering of extracellular ligand from receptor (GO:0035581)7.06841311
5bone trabecula formation (GO:0060346)6.44677629
6skin morphogenesis (GO:0043589)6.43488572
7endodermal cell differentiation (GO:0035987)5.92070777
8type B pancreatic cell proliferation (GO:0044342)5.45463715
9positive regulation of endothelial cell apoptotic process (GO:2000353)5.23204594
10cell adhesion mediated by integrin (GO:0033627)5.07024792
11collagen metabolic process (GO:0032963)4.94551341
12axon extension involved in axon guidance (GO:0048846)4.94484001
13neuron projection extension involved in neuron projection guidance (GO:1902284)4.94484001
14collagen catabolic process (GO:0030574)4.87579523
15negative regulation of fatty acid transport (GO:2000192)4.85349005
16dermatan sulfate biosynthetic process (GO:0030208)4.84700609
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.77181267
18mesenchymal-epithelial cell signaling (GO:0060638)4.76541692
19wound healing, spreading of epidermal cells (GO:0035313)4.73825186
20cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.66943381
21peptidyl-proline hydroxylation (GO:0019511)4.65132273
22multicellular organismal macromolecule metabolic process (GO:0044259)4.59992642
23multicellular organismal catabolic process (GO:0044243)4.44282989
24dermatan sulfate metabolic process (GO:0030205)4.40627621
25multicellular organismal metabolic process (GO:0044236)4.32577759
26cellular response to vitamin (GO:0071295)4.28118629
27adhesion of symbiont to host cell (GO:0044650)4.24555779
28virion attachment to host cell (GO:0019062)4.24555779
29epoxygenase P450 pathway (GO:0019373)4.21693815
30metanephric mesenchyme development (GO:0072075)4.21284471
31extracellular matrix disassembly (GO:0022617)4.20134568
32extracellular fibril organization (GO:0043206)4.18658513
33cellular response to vitamin D (GO:0071305)4.11250467
34fibril organization (GO:0097435)4.08657371
35kidney mesenchyme development (GO:0072074)3.99421053
36apoptotic cell clearance (GO:0043277)3.97416331
37positive regulation of fibroblast migration (GO:0010763)3.92973384
38wound healing, spreading of cells (GO:0044319)3.92605721
39craniofacial suture morphogenesis (GO:0097094)3.91958212
40protein hydroxylation (GO:0018126)3.88260266
41negative regulation of chondrocyte differentiation (GO:0032331)3.87835122
42epithelial cell-cell adhesion (GO:0090136)3.81590112
43blood vessel maturation (GO:0001955)3.81476254
44extracellular regulation of signal transduction (GO:1900115)3.78656200
45extracellular negative regulation of signal transduction (GO:1900116)3.78656200
46omega-hydroxylase P450 pathway (GO:0097267)3.78231150
47protein localization to cell surface (GO:0034394)3.74925536
48positive regulation of extracellular matrix organization (GO:1903055)3.74708854
49basement membrane organization (GO:0071711)3.74224379
50regulation of tight junction assembly (GO:2000810)3.68528702
51positive regulation of macrophage activation (GO:0043032)3.67127630
52regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.65172285
53plasma membrane repair (GO:0001778)3.64289894
54adhesion of symbiont to host (GO:0044406)3.60837297
55retina vasculature morphogenesis in camera-type eye (GO:0061299)3.57015785
56heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.50577515
57negative regulation of osteoblast proliferation (GO:0033689)3.48917155
58positive regulation of epithelial to mesenchymal transition (GO:0010718)3.47187242
59cellular response to amino acid stimulus (GO:0071230)3.46708289
60positive regulation of blood vessel endothelial cell migration (GO:0043536)3.45990757
61cellular response to interferon-alpha (GO:0035457)3.42639423
62negative regulation of focal adhesion assembly (GO:0051895)3.41521392
63negative regulation of cell junction assembly (GO:1901889)3.41521392
64negative regulation of adherens junction organization (GO:1903392)3.41521392
65negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.41002773
66tooth mineralization (GO:0034505)3.37945453
67* extracellular matrix assembly (GO:0085029)3.37333322
68endocardial cushion development (GO:0003197)3.35974648
69chondrocyte development (GO:0002063)3.34573046
70regulation of extracellular matrix disassembly (GO:0010715)3.34532538
71embryonic cranial skeleton morphogenesis (GO:0048701)3.32678401
72* extracellular matrix organization (GO:0030198)3.32229283
73vascular endothelial growth factor signaling pathway (GO:0038084)3.32143809
74* extracellular structure organization (GO:0043062)3.30830636
75maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.25770700
76Golgi transport vesicle coating (GO:0048200)3.25107366
77COPI coating of Golgi vesicle (GO:0048205)3.25107366
78negative regulation of BMP signaling pathway (GO:0030514)3.24367291
79negative regulation of leukocyte chemotaxis (GO:0002689)3.23405071
80substrate-dependent cell migration (GO:0006929)3.21393157
81planar cell polarity pathway involved in neural tube closure (GO:0090179)3.20477238
82regulation of osteoblast proliferation (GO:0033688)3.19675762
83protein retention in ER lumen (GO:0006621)3.19657014
84regulation of integrin-mediated signaling pathway (GO:2001044)3.19553939
85keratan sulfate catabolic process (GO:0042340)3.18058643
86regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.17466306
87negative regulation of embryonic development (GO:0045992)3.17462119
88COPII vesicle coating (GO:0048208)3.11371264
89cell-substrate junction assembly (GO:0007044)3.11278235
90middle ear morphogenesis (GO:0042474)3.10383769
91negative regulation of cartilage development (GO:0061037)3.09785790
92positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.09586096
93venous blood vessel morphogenesis (GO:0048845)3.08583968
94G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.07891006
95substrate adhesion-dependent cell spreading (GO:0034446)3.06214601
96cell migration involved in heart development (GO:0060973)3.05658057
97regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.05198850
98outer ear morphogenesis (GO:0042473)3.03450414
99hyaluronan catabolic process (GO:0030214)3.01958310
100sprouting angiogenesis (GO:0002040)2.97949642
101barbed-end actin filament capping (GO:0051016)2.97399405
102hippo signaling (GO:0035329)2.95982073
103positive regulation of osteoblast proliferation (GO:0033690)2.95615640
104stress fiber assembly (GO:0043149)2.95033422
105negative regulation of axon extension involved in axon guidance (GO:0048843)2.93253713
106negative regulation of fibrinolysis (GO:0051918)2.93116111
107regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.91258457
108chondroitin sulfate biosynthetic process (GO:0030206)2.90632280
109cranial suture morphogenesis (GO:0060363)2.89924762
110endothelial cell morphogenesis (GO:0001886)2.88331650
111peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.87961414
112negative regulation of nitric-oxide synthase activity (GO:0051001)2.86263225
113negative regulation of catenin import into nucleus (GO:0035414)2.86061471
114vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.85841955
115response to fluid shear stress (GO:0034405)2.85746394
116regulation of plasminogen activation (GO:0010755)2.85686533
117glomerular basement membrane development (GO:0032836)2.85425511
118positive regulation of axon extension (GO:0045773)2.84488280
119pericardium development (GO:0060039)2.82678117
120actin filament depolymerization (GO:0030042)2.82660856
121endothelial cell proliferation (GO:0001935)2.82051769
122negative regulation of smooth muscle cell migration (GO:0014912)2.81661008
123heparan sulfate proteoglycan metabolic process (GO:0030201)2.81047476
124cell migration involved in sprouting angiogenesis (GO:0002042)2.80792480
125regulation of gastrulation (GO:0010470)2.79324859
126smooth muscle tissue development (GO:0048745)2.78121468
127negative chemotaxis (GO:0050919)2.74691483
128replacement ossification (GO:0036075)2.74605410
129positive regulation of cartilage development (GO:0061036)2.72477122
130cochlea morphogenesis (GO:0090103)2.72185796
131lymphangiogenesis (GO:0001946)2.71851346

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.49866210
2RARG_19884340_ChIP-ChIP_MEFs_Mouse5.78670159
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.84699925
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.79077144
5RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.65575041
6CLOCK_20551151_ChIP-Seq_293T_Human3.34376305
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.19178541
8CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse3.08100040
9* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse3.03353558
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.96761718
11* CJUN_26792858_Chip-Seq_BT549_Human2.76846202
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.75201922
13BRD4_25478319_ChIP-Seq_HGPS_Human2.59791035
14* WT1_19549856_ChIP-ChIP_CCG9911_Human2.57293825
15ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.54737104
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.52060298
17NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.43642965
18NRF2_20460467_ChIP-Seq_MEFs_Mouse2.43642965
19WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.25622034
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.09463403
21ESR1_15608294_ChIP-ChIP_MCF-7_Human2.07669231
22SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.00240993
23EP300_21415370_ChIP-Seq_HL-1_Mouse1.98359874
24SMAD_19615063_ChIP-ChIP_OVARY_Human1.97511560
25EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.94161181
26ELK3_25401928_ChIP-Seq_HUVEC_Human1.92141258
27* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.78812014
28CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.76704443
29SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.76387021
30SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.76387021
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.68868063
32PPAR_26484153_Chip-Seq_NCI-H1993_Human1.68816500
33JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.66106503
34P300_27058665_Chip-Seq_ZR-75-30cells_Human1.64820838
35ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.64689257
36TP53_18474530_ChIP-ChIP_U2OS_Human1.62006227
37* TP53_20018659_ChIP-ChIP_R1E_Mouse1.60766859
38TP53_16413492_ChIP-PET_HCT116_Human1.60090922
39NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.59873826
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.59100899
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.56724255
42TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56629724
43EED_16625203_ChIP-ChIP_MESCs_Mouse1.54034685
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52544490
45TP53_22127205_ChIP-Seq_IMR90_Human1.50392888
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.50375985
47ESR1_21235772_ChIP-Seq_MCF-7_Human1.50177886
48RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.50015218
49* TP53_23651856_ChIP-Seq_MEFs_Mouse1.49495186
50* ATF3_27146783_Chip-Seq_COLON_Human1.45104980
51FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.42102584
52MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.40975099
53SOX2_20726797_ChIP-Seq_SW620_Human1.37520775
54SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.36493434
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.33900486
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32062702
57UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.28709005
58* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.28288081
59SALL4_18804426_ChIP-ChIP_XEN_Mouse1.27043811
60* SA1_22415368_ChIP-Seq_MEFs_Mouse1.24000191
61NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.23739095
62HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.21491539
63THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.21113197
64* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.18617134
65NFI_21473784_ChIP-Seq_ESCs_Mouse1.16266853
66* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14800245
67* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14800245
68SOX9_24532713_ChIP-Seq_HFSC_Mouse1.14654731
69* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.14180757
70SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.12652644
71FOXO3_23340844_ChIP-Seq_DLD1_Human1.11399506
72ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.10765565
73KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10493903
74* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.10436883
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.09946065
76RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07759142
77* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.07550130
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06999467
79PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.06450260
80FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.05818692
81PIAS1_25552417_ChIP-Seq_VCAP_Human1.05711854
82POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.04681657
83TBX20_22080862_ChIP-Seq_HEART_Mouse1.03896346
84TBX20_22328084_ChIP-Seq_HEART_Mouse1.03896346
85SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.03791580
86NFIB_24661679_ChIP-Seq_LUNG_Mouse1.03040296
87PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02936471
88ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.01581387
89TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.00834672
90ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.00811190
91PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.99166719
92* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.97571525
93P63_26484246_Chip-Seq_KERATINOCYTES_Human0.97134011
94DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.96003849
95* HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.95108736
96* RACK7_27058665_Chip-Seq_MCF-7_Human0.93742295
97* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.93470392
98KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93244928
99* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.93180783
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92568906
101Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.92401106
102TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90913457
103TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.89694164
104KLF5_25053715_ChIP-Seq_YYC3_Human0.88763471
105PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.87692975
106RNF2_27304074_Chip-Seq_ESCs_Mouse0.86870469
107EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.86431283
108ZNF217_24962896_ChIP-Seq_MCF-7_Human0.85851544
109PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.85784693
110TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85506566
111CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84926620
112ISL1_27105846_Chip-Seq_CPCs_Mouse0.84444306
113ZFP281_27345836_Chip-Seq_ESCs_Mouse0.84373576
114ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.84073563
115JARID2_20064375_ChIP-Seq_MESCs_Mouse0.84023807
116GATA2_21666600_ChIP-Seq_HMVEC_Human0.83473535
117TBX3_20139965_ChIP-Seq_ESCs_Mouse0.83419269
118TBX3_20139965_ChIP-Seq_MESCs_Mouse0.83249940
119TP63_23658742_ChIP-Seq_EP156T_Human0.82726591
120* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.81752833
121SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.80424987

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen9.06795738
2MP0005503_abnormal_tendon_morphology5.91936586
3* MP0005275_abnormal_skin_tensile5.16213738
4MP0003705_abnormal_hypodermis_morpholog5.09993568
5* MP0003279_aneurysm4.09166344
6* MP0001958_emphysema3.05739200
7MP0006054_spinal_hemorrhage2.93724316
8MP0005623_abnormal_meninges_morphology2.73214856
9MP0005257_abnormal_intraocular_pressure2.58710714
10MP0004272_abnormal_basement_membrane2.49828694
11MP0005508_abnormal_skeleton_morphology2.38081082
12MP0010352_gastrointestinal_tract_polyps2.27256237
13MP0005023_abnormal_wound_healing2.19413919
14MP0001542_abnormal_bone_strength2.11823860
15MP0003566_abnormal_cell_adhesion2.08496307
16* MP0002060_abnormal_skin_morphology1.95069754
17MP0003091_abnormal_cell_migration1.92195494
18* MP0009384_cardiac_valve_regurgitation1.89403963
19* MP0002295_abnormal_pulmonary_circulatio1.85260085
20MP0010030_abnormal_orbit_morphology1.78790424
21MP0009250_abnormal_appendicular_skeleto1.78241894
22MP0001243_abnormal_dermal_layer1.78235173
23MP0003385_abnormal_body_wall1.70483160
24MP0000013_abnormal_adipose_tissue1.69456379
25MP0002108_abnormal_muscle_morphology1.69357090
26MP0001348_abnormal_lacrimal_gland1.62353399
27MP0002896_abnormal_bone_mineralization1.60825075
28MP0001299_abnormal_eye_distance/1.50121452
29MP0004134_abnormal_chest_morphology1.47856830
30MP0002933_joint_inflammation1.46919793
31MP0005390_skeleton_phenotype1.46800181
32MP0003283_abnormal_digestive_organ1.45542981
33MP0002282_abnormal_trachea_morphology1.34559256
34MP0004858_abnormal_nervous_system1.33981883
35MP0000733_abnormal_muscle_development1.29345484
36MP0002115_abnormal_skeleton_extremities1.25139281
37MP0000163_abnormal_cartilage_morphology1.19431235
38MP0002932_abnormal_joint_morphology1.18092228
39MP0002168_other_aberrant_phenotype1.17961105
40* MP0000767_abnormal_smooth_muscle1.15957738
41MP0000428_abnormal_craniofacial_morphol1.13799049
42MP0002877_abnormal_melanocyte_morpholog1.10903665
43MP0009053_abnormal_anal_canal1.10305671
44MP0002998_abnormal_bone_remodeling1.09638569
45MP0005171_absent_coat_pigmentation1.08997064
46MP0002113_abnormal_skeleton_development1.05470377
47MP0003942_abnormal_urinary_system1.05273217
48MP0001533_abnormal_skeleton_physiology1.02428985
49MP0003045_fibrosis1.01026927
50MP0003755_abnormal_palate_morphology0.95234695
51MP0000534_abnormal_ureter_morphology0.93006207
52MP0000003_abnormal_adipose_tissue0.91912129
53MP0003300_gastrointestinal_ulcer0.88748663
54MP0003795_abnormal_bone_structure0.88504045
55MP0005076_abnormal_cell_differentiation0.87453111
56MP0010368_abnormal_lymphatic_system0.86816240
57MP0000749_muscle_degeneration0.86181872
58MP0000762_abnormal_tongue_morphology0.83418286
59MP0000049_abnormal_middle_ear0.80856226
60MP0005595_abnormal_vascular_smooth0.79633107
61MP0002089_abnormal_postnatal_growth/wei0.78113246
62* MP0002128_abnormal_blood_circulation0.77949174
63MP0002109_abnormal_limb_morphology0.77009564
64MP0005197_abnormal_uvea_morphology0.76775658
65MP0005164_abnormal_response_to0.75570971
66MP0000432_abnormal_head_morphology0.75047358
67* MP0001614_abnormal_blood_vessel0.74127953
68MP0003937_abnormal_limbs/digits/tail_de0.73446147
69MP0002254_reproductive_system_inflammat0.72650586
70MP0003448_altered_tumor_morphology0.71934625
71MP0002116_abnormal_craniofacial_bone0.71901018
72MP0001915_intracranial_hemorrhage0.71859595
73* MP0003115_abnormal_respiratory_system0.71536439
74MP0002249_abnormal_larynx_morphology0.70369639
75MP0002111_abnormal_tail_morphology0.69747957
76MP0002233_abnormal_nose_morphology0.68946206
77MP0004233_abnormal_muscle_weight0.68407749
78MP0003941_abnormal_skin_development0.67595430
79MP0001175_abnormal_lung_morphology0.67273093
80MP0003935_abnormal_craniofacial_develop0.67038293
81MP0000750_abnormal_muscle_regeneration0.66027107
82MP0005165_increased_susceptibility_to0.65855674
83MP0000751_myopathy0.64945680
84MP0008004_abnormal_stomach_pH0.64104145
85MP0003950_abnormal_plasma_membrane0.63882171
86MP0005193_abnormal_anterior_eye0.62799625
87MP0001849_ear_inflammation0.62614907
88MP0002114_abnormal_axial_skeleton0.61797140
89MP0000858_altered_metastatic_potential0.61678660
90MP0002177_abnormal_outer_ear0.61540667
91MP0000538_abnormal_urinary_bladder0.60419888
92MP0003191_abnormal_cellular_cholesterol0.60174266
93MP0001879_abnormal_lymphatic_vessel0.59654689
94MP0004883_abnormal_blood_vessel0.59565077
95MP0004084_abnormal_cardiac_muscle0.59300992
96MP0002925_abnormal_cardiovascular_devel0.58299877
97* MP0002133_abnormal_respiratory_system0.57430972
98* MP0005388_respiratory_system_phenotype0.57430972
99MP0002697_abnormal_eye_size0.55569874
100* MP0000759_abnormal_skeletal_muscle0.54786955
101MP0005220_abnormal_exocrine_pancreas0.54132863
102MP0004808_abnormal_hematopoietic_stem0.53804981
103MP0000343_altered_response_to0.52596069
104MP0010771_integument_phenotype0.52300342
105MP0005367_renal/urinary_system_phenotyp0.50908414
106MP0000516_abnormal_urinary_system0.50908414
107MP0005621_abnormal_cell_physiology0.48570958
108MP0010386_abnormal_urinary_bladder0.47188634
109MP0009780_abnormal_chondrocyte_physiolo0.46818623
110MP0000467_abnormal_esophagus_morphology0.46164302
111MP0005084_abnormal_gallbladder_morpholo0.45523289
112MP0000462_abnormal_digestive_system0.44928638
113MP0005369_muscle_phenotype0.43336143
114MP0001270_distended_abdomen0.42306740

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.84133188
2Premature rupture of membranes (HP:0001788)9.38123662
3Peritonitis (HP:0002586)5.91742336
4Aortic dissection (HP:0002647)5.66307410
5Soft skin (HP:0000977)5.38342672
6Atrophic scars (HP:0001075)4.97956267
7Shallow orbits (HP:0000586)4.97422621
8Abnormality of dentin (HP:0010299)4.81237119
9Ankle contracture (HP:0006466)4.77927718
10Aortic aneurysm (HP:0004942)4.70830500
11Bladder diverticulum (HP:0000015)4.64903366
12Dilatation of the ascending aorta (HP:0005111)4.56434185
13Fragile skin (HP:0001030)4.35863811
14Genu recurvatum (HP:0002816)4.28702873
15Biconcave vertebral bodies (HP:0004586)4.17451670
16Cervical subluxation (HP:0003308)4.11232798
17Broad metatarsal (HP:0001783)4.07040968
18Neonatal short-limb short stature (HP:0008921)4.05460144
19Vertebral compression fractures (HP:0002953)4.03920443
20Cerebral aneurysm (HP:0004944)3.89781917
21Wormian bones (HP:0002645)3.87107896
22Blue sclerae (HP:0000592)3.71832058
23Wrist flexion contracture (HP:0001239)3.66725164
24Mitral valve prolapse (HP:0001634)3.63860759
25Bowel diverticulosis (HP:0005222)3.61561286
26Vascular tortuosity (HP:0004948)3.51204250
27Follicular hyperkeratosis (HP:0007502)3.39244696
28Abnormal delivery (HP:0001787)3.25371757
29Infantile muscular hypotonia (HP:0008947)3.21783350
30Type 1 muscle fiber predominance (HP:0003803)3.16035711
31Spinal rigidity (HP:0003306)3.10285346
32Hyperextensible skin (HP:0000974)3.08605836
33Overgrowth (HP:0001548)3.02304979
34Arterial tortuosity (HP:0005116)2.96057632
35Abnormality of the acetabulum (HP:0003170)2.92518114
36Breech presentation (HP:0001623)2.76128055
37Ectopia lentis (HP:0001083)2.75955326
38Elbow flexion contracture (HP:0002987)2.70641900
39Abnormality of the peritoneum (HP:0002585)2.65274088
40Nonimmune hydrops fetalis (HP:0001790)2.61825161
41Slender build (HP:0001533)2.57998062
42Spondylolisthesis (HP:0003302)2.54839324
43Aortic valve stenosis (HP:0001650)2.52942356
44Aneurysm (HP:0002617)2.50104507
45Thin bony cortex (HP:0002753)2.49419721
46Hypoventilation (HP:0002791)2.47821559
47Increased connective tissue (HP:0009025)2.47528741
48Deviation of the hallux (HP:0010051)2.45985129
49Wide anterior fontanel (HP:0000260)2.44332213
50Joint laxity (HP:0001388)2.44036653
51Tibial bowing (HP:0002982)2.43569441
52Camptodactyly of toe (HP:0001836)2.40052874
53Hallux valgus (HP:0001822)2.39782710
54Broad ribs (HP:0000885)2.37908686
55Coxa vara (HP:0002812)2.32695880
56Mitral regurgitation (HP:0001653)2.31689412
57Cardiovascular calcification (HP:0011915)2.27212089
58Osteolytic defects of the phalanges of the hand (HP:0009771)2.26873286
59Osteolytic defects of the hand bones (HP:0009699)2.26873286
60Osteoarthritis (HP:0002758)2.26448072
61Round ear (HP:0100830)2.25608734
62Ulnar bowing (HP:0003031)2.23974428
63Buphthalmos (HP:0000557)2.23604364
64Increased variability in muscle fiber diameter (HP:0003557)2.22387850
65Congenital glaucoma (HP:0001087)2.22333255
66Ovoid vertebral bodies (HP:0003300)2.20560682
67Bell-shaped thorax (HP:0001591)2.19538193
68Mesomelia (HP:0003027)2.17388061
69Joint stiffness (HP:0001387)2.16429656
70Femoral bowing (HP:0002980)2.16304041
71Mild short stature (HP:0003502)2.15565098
72Mildly elevated creatine phosphokinase (HP:0008180)2.13582621
73Spinal cord lesions (HP:0100561)2.12621581
74Syringomyelia (HP:0003396)2.12621581
75Renal duplication (HP:0000075)2.12284989
76Aortic regurgitation (HP:0001659)2.11175285
77Morphological abnormality of the middle ear (HP:0008609)2.10844309
78Delayed closure of the anterior fontanelle (HP:0001476)2.06635502
79Increased density of long bones (HP:0006392)2.05067513
80Decreased skull ossification (HP:0004331)2.04797846
81Absent frontal sinuses (HP:0002688)2.04792746
82Short nail (HP:0001799)2.04422133
83Redundant skin (HP:0001582)2.03134854
84Broad long bones (HP:0005622)2.01275680
85Flared iliac wings (HP:0002869)2.00222520
86Radial bowing (HP:0002986)1.97706207
87Venous abnormality (HP:0002624)1.97469416
88Generalized amyotrophy (HP:0003700)1.96847159
89Spinal cord compression (HP:0002176)1.95655969
90Knee flexion contracture (HP:0006380)1.95300876
91Venous insufficiency (HP:0005293)1.94437871
92Abnormality of skull ossification (HP:0002703)1.94337609
93Upper limb amyotrophy (HP:0009129)1.92822854
94Distal upper limb amyotrophy (HP:0007149)1.92822854
95Abnormality of skeletal muscle fiber size (HP:0012084)1.92278831
96Protruding ear (HP:0000411)1.89507664
97Hypoplasia of the iris (HP:0007676)1.87985868
98Delayed cranial suture closure (HP:0000270)1.87972501
99Flat cornea (HP:0007720)1.87447945
100Platyspondyly (HP:0000926)1.87077495
101Thin skin (HP:0000963)1.86807279
102Abnormality of the anterior chamber (HP:0000593)1.86638588
103Abnormality of the calcaneus (HP:0008364)1.84280110
104Joint contractures involving the joints of the feet (HP:0100492)1.83662757
105Flexion contracture of toe (HP:0005830)1.83662757
106Bowed forearm bones (HP:0003956)1.83442761
107Bowing of the arm (HP:0006488)1.83442761
108Premature skin wrinkling (HP:0100678)1.83199843
109Cupped ribs (HP:0000887)1.82516733
110Inguinal hernia (HP:0000023)1.82294559
111Limb-girdle muscle weakness (HP:0003325)1.81678960
112Osteopenia (HP:0000938)1.81611228
113Beaking of vertebral bodies (HP:0004568)1.81284883
114Coronal craniosynostosis (HP:0004440)1.79899106
115Striae distensae (HP:0001065)1.78303475
116Thoracolumbar scoliosis (HP:0002944)1.73672452
117Disproportionate tall stature (HP:0001519)1.71961893
118Mitral stenosis (HP:0001718)1.70635144

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.02740172
2TTN4.42667869
3TRIB33.97866508
4PDGFRA3.82949809
5LATS23.79652104
6ERN12.99822822
7PKN22.82740373
8LATS12.69615836
9PAK22.17694464
10SIK12.03024235
11TRPM71.99266421
12PAK31.92393729
13EPHB21.80936310
14EPHA31.78229386
15STK381.76405687
16PTK21.75136970
17TESK11.74075658
18RIPK11.73617683
19BMX1.64246237
20FER1.60652080
21AKT31.57968592
22RPS6KA41.46214541
23LIMK11.46156083
24LRRK21.37570601
25PTK2B1.35246444
26PAK41.32678438
27PIM21.30320410
28STK31.30314494
29MOS1.28157130
30PDGFRB1.22122212
31NEK91.22009869
32FRK1.15548955
33PIK3CG1.14814997
34PTK61.13851901
35FGFR11.13451815
36TGFBR21.11822001
37PIK3CA1.11258327
38DMPK1.10389843
39NTRK11.04840904
40MET1.03760410
41SCYL21.02567821
42PLK20.99520683
43EEF2K0.99056047
44GRK70.98626921
45ROCK10.98156980
46MTOR0.96622458
47FLT30.91592126
48ERBB30.86453412
49ABL20.86117842
50MYLK0.85512501
51ILK0.84956471
52MAP3K60.84620086
53MAP2K10.84159152
54KIT0.83540561
55ICK0.81018464
56PRKD20.78749742
57MAPK70.77246040
58NME20.77137628
59MAP3K100.73640558
60TAOK10.71417640
61PAK10.71021709
62JAK10.70481946
63INSR0.69830321
64TESK20.69742954
65GSK3A0.67149036
66RPS6KA20.64719504
67EPHB10.63498032
68MAPKAPK50.63324254
69ARAF0.63115054
70MELK0.62667424
71ROCK20.62100070
72PRKCH0.59592209
73RET0.59001133
74PRKD10.58454221
75CAMKK10.56243180
76MAP3K30.54882814
77KSR20.54084168
78EPHA20.53135535
79CDK80.52056201
80DAPK30.51298785
81STK38L0.50609133
82CAMKK20.48950588
83PRKCE0.48607384
84CDK60.48204924
85PRKD30.48002136
86LMTK20.46741623
87MAP3K120.45910695
88MAP3K80.45480212
89CLK10.45251614
90GRK50.44965409
91SRC0.44030214
92ADRBK10.42867177
93CDC42BPA0.42219070
94FGFR20.42181582
95JAK30.39656988
96MAP2K30.39608528
97MAPKAPK30.38761930
98TAOK20.38582412
99PAK60.38329625
100PRKG20.37298727
101WNK40.36557308
102CDK140.36149481
103CAMK2G0.35232961
104CDK150.35029842
105MARK10.34259728
106TYK20.33900853
107CDK180.29923944
108TGFBR10.29765264
109STK100.28681152
110STK240.28625514
111NUAK10.28150708
112CDK11A0.27952289
113MAPK10.27627839
114CDK120.27534968
115MST1R0.26572180
116RAF10.26556954
117PNCK0.26069954
118CAMK1D0.26031617
119ABL10.25078934
120FGFR40.24828440
121MAPK110.24702282
122MAPKAPK20.24655676
123IRAK30.24442849
124DYRK1B0.24354620
125NEK20.23117021
126PLK30.22906523
127WNK10.22376295
128IGF1R0.21901373
129PDK20.21813183
130ERBB40.20610206

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.90028785
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.58732722
3Focal adhesion_Homo sapiens_hsa045103.45922166
4Malaria_Homo sapiens_hsa051442.87359096
5Protein digestion and absorption_Homo sapiens_hsa049742.70069226
6Proteoglycans in cancer_Homo sapiens_hsa052052.53139915
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.50257178
8Amoebiasis_Homo sapiens_hsa051462.44670735
9Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.35465589
10Bladder cancer_Homo sapiens_hsa052192.34322591
11Adherens junction_Homo sapiens_hsa045202.05939243
12TGF-beta signaling pathway_Homo sapiens_hsa043502.03296828
13Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.91623364
14MicroRNAs in cancer_Homo sapiens_hsa052061.91588832
15PI3K-Akt signaling pathway_Homo sapiens_hsa041511.84201359
16Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.80442776
17Dilated cardiomyopathy_Homo sapiens_hsa054141.80261380
18Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.73539166
19Small cell lung cancer_Homo sapiens_hsa052221.72515421
20p53 signaling pathway_Homo sapiens_hsa041151.68324950
21Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.66470937
22Hippo signaling pathway_Homo sapiens_hsa043901.64662932
23Melanoma_Homo sapiens_hsa052181.63250089
24Chronic myeloid leukemia_Homo sapiens_hsa052201.59288287
25Shigellosis_Homo sapiens_hsa051311.54585773
26Regulation of actin cytoskeleton_Homo sapiens_hsa048101.50530425
27Phagosome_Homo sapiens_hsa041451.38533955
28Basal cell carcinoma_Homo sapiens_hsa052171.26291514
29Leukocyte transendothelial migration_Homo sapiens_hsa046701.23407558
30Glioma_Homo sapiens_hsa052141.18309892
31TNF signaling pathway_Homo sapiens_hsa046681.17411271
32Platelet activation_Homo sapiens_hsa046111.17050889
33Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.16879226
34Pancreatic cancer_Homo sapiens_hsa052121.13299177
35Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.12425393
36Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.10172957
37Rap1 signaling pathway_Homo sapiens_hsa040151.08067352
38Prostate cancer_Homo sapiens_hsa052151.05406395
39Complement and coagulation cascades_Homo sapiens_hsa046101.02451425
40Glycosaminoglycan degradation_Homo sapiens_hsa005310.99431266
41Hedgehog signaling pathway_Homo sapiens_hsa043400.99140797
42Pathways in cancer_Homo sapiens_hsa052000.98660639
43Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.95093030
44HTLV-I infection_Homo sapiens_hsa051660.92537411
45Viral myocarditis_Homo sapiens_hsa054160.90112363
46Central carbon metabolism in cancer_Homo sapiens_hsa052300.89268357
47Salmonella infection_Homo sapiens_hsa051320.88211188
48Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.87362963
49Wnt signaling pathway_Homo sapiens_hsa043100.87169123
50HIF-1 signaling pathway_Homo sapiens_hsa040660.85818672
51Axon guidance_Homo sapiens_hsa043600.83564260
52N-Glycan biosynthesis_Homo sapiens_hsa005100.83318409
53Tight junction_Homo sapiens_hsa045300.81757137
54Toxoplasmosis_Homo sapiens_hsa051450.80679801
55Sulfur metabolism_Homo sapiens_hsa009200.78388262
56Lysosome_Homo sapiens_hsa041420.77627493
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.77359144
58Viral carcinogenesis_Homo sapiens_hsa052030.75660496
59Hepatitis B_Homo sapiens_hsa051610.75526823
60Apoptosis_Homo sapiens_hsa042100.73107857
61Renal cell carcinoma_Homo sapiens_hsa052110.72475154
62mTOR signaling pathway_Homo sapiens_hsa041500.69925833
63Colorectal cancer_Homo sapiens_hsa052100.67417417
64Gap junction_Homo sapiens_hsa045400.66535305
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.64869899
66Cocaine addiction_Homo sapiens_hsa050300.64563860
67Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64054795
68Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.61403661
69Galactose metabolism_Homo sapiens_hsa000520.60244093
70Ras signaling pathway_Homo sapiens_hsa040140.59265468
71Melanogenesis_Homo sapiens_hsa049160.58868209
72Endocytosis_Homo sapiens_hsa041440.58226810
73Rheumatoid arthritis_Homo sapiens_hsa053230.56879138
74Leishmaniasis_Homo sapiens_hsa051400.56653046
75Thyroid cancer_Homo sapiens_hsa052160.56241369
76Ovarian steroidogenesis_Homo sapiens_hsa049130.55115200
77Vascular smooth muscle contraction_Homo sapiens_hsa042700.54222971
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.53980892
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52833550
80Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52454284
81GnRH signaling pathway_Homo sapiens_hsa049120.52441395
82Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52440642
83Estrogen signaling pathway_Homo sapiens_hsa049150.52230242
84Caffeine metabolism_Homo sapiens_hsa002320.49511143
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49481822
86FoxO signaling pathway_Homo sapiens_hsa040680.48803275
87Thyroid hormone synthesis_Homo sapiens_hsa049180.48430118
88Phospholipase D signaling pathway_Homo sapiens_hsa040720.48381551
89Renin-angiotensin system_Homo sapiens_hsa046140.48354244
90VEGF signaling pathway_Homo sapiens_hsa043700.47402399
91Tuberculosis_Homo sapiens_hsa051520.47175404
92Sphingolipid metabolism_Homo sapiens_hsa006000.45732524
93Pertussis_Homo sapiens_hsa051330.44623424
94Osteoclast differentiation_Homo sapiens_hsa043800.44525596
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42828801
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42446967
97AMPK signaling pathway_Homo sapiens_hsa041520.40763706
98Vibrio cholerae infection_Homo sapiens_hsa051100.40034852
99Prion diseases_Homo sapiens_hsa050200.39370743
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.38617715
101Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.38557402
102Dorso-ventral axis formation_Homo sapiens_hsa043200.37845304
103Endometrial cancer_Homo sapiens_hsa052130.37817572
104MAPK signaling pathway_Homo sapiens_hsa040100.36566903
105Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.35249384
106Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.34418158
107Cell cycle_Homo sapiens_hsa041100.32966825
108Pentose phosphate pathway_Homo sapiens_hsa000300.32365467
109Oxytocin signaling pathway_Homo sapiens_hsa049210.32188957
110SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31938472
111ErbB signaling pathway_Homo sapiens_hsa040120.31603149
112Other glycan degradation_Homo sapiens_hsa005110.30458845
113One carbon pool by folate_Homo sapiens_hsa006700.30171691
114cAMP signaling pathway_Homo sapiens_hsa040240.29779932
115Adipocytokine signaling pathway_Homo sapiens_hsa049200.29270327
116Non-small cell lung cancer_Homo sapiens_hsa052230.29014459
117Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.28990343
118Insulin resistance_Homo sapiens_hsa049310.28811100
119Choline metabolism in cancer_Homo sapiens_hsa052310.27729472
120Protein export_Homo sapiens_hsa030600.27316011

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