LOXL2

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 gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* collagen fibril organization (GO:0030199)6.80817616
2chondrocyte proliferation (GO:0035988)6.42358114
3protein heterotrimerization (GO:0070208)6.09529421
4endodermal cell differentiation (GO:0035987)5.73949780
5bone trabecula formation (GO:0060346)5.47020671
6sequestering of extracellular ligand from receptor (GO:0035581)5.33071669
7glomerular basement membrane development (GO:0032836)5.25245586
8basement membrane organization (GO:0071711)4.89852044
9skin morphogenesis (GO:0043589)4.84559155
10type B pancreatic cell proliferation (GO:0044342)4.84110872
11cell adhesion mediated by integrin (GO:0033627)4.82979810
12collagen metabolic process (GO:0032963)4.75066880
13collagen catabolic process (GO:0030574)4.68785753
14wound healing, spreading of epidermal cells (GO:0035313)4.55933059
15retina vasculature morphogenesis in camera-type eye (GO:0061299)4.53498387
16cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.48248538
17multicellular organismal macromolecule metabolic process (GO:0044259)4.46738020
18multicellular organismal catabolic process (GO:0044243)4.33518187
19extracellular matrix disassembly (GO:0022617)4.23449442
20polarized epithelial cell differentiation (GO:0030859)4.21806867
21multicellular organismal metabolic process (GO:0044236)4.20200402
22extracellular fibril organization (GO:0043206)4.04024704
23regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.94349717
24negative regulation of fatty acid transport (GO:2000192)3.93525752
25endocardial cushion development (GO:0003197)3.92190796
26neuron projection extension involved in neuron projection guidance (GO:1902284)3.91831908
27axon extension involved in axon guidance (GO:0048846)3.91831908
28peptidyl-proline hydroxylation (GO:0019511)3.88973227
29epithelial cell-cell adhesion (GO:0090136)3.88858310
30chondrocyte development (GO:0002063)3.88851599
31positive regulation of endothelial cell apoptotic process (GO:2000353)3.85989219
32glomerular visceral epithelial cell development (GO:0072015)3.67800982
33heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.67113766
34virion attachment to host cell (GO:0019062)3.64931691
35adhesion of symbiont to host cell (GO:0044650)3.64931691
36cellular response to vitamin D (GO:0071305)3.62677262
37substrate adhesion-dependent cell spreading (GO:0034446)3.60821079
38fibril organization (GO:0097435)3.60642967
39paraxial mesoderm development (GO:0048339)3.58631890
40hippo signaling (GO:0035329)3.54771136
41wound healing, spreading of cells (GO:0044319)3.52470344
42mesenchymal-epithelial cell signaling (GO:0060638)3.48322082
43craniofacial suture morphogenesis (GO:0097094)3.45095510
44vascular endothelial growth factor signaling pathway (GO:0038084)3.42642196
45plasma membrane repair (GO:0001778)3.41510854
46hemidesmosome assembly (GO:0031581)3.39105314
47positive regulation of epithelial to mesenchymal transition (GO:0010718)3.38628813
48cell migration involved in sprouting angiogenesis (GO:0002042)3.37689095
49protein hydroxylation (GO:0018126)3.36114654
50negative regulation of chondrocyte differentiation (GO:0032331)3.30546190
51* extracellular matrix organization (GO:0030198)3.29617611
52cellular response to vitamin (GO:0071295)3.28420836
53* extracellular structure organization (GO:0043062)3.28379366
54renal filtration (GO:0097205)3.25928260
55dermatan sulfate biosynthetic process (GO:0030208)3.25844382
56actin filament depolymerization (GO:0030042)3.23136499
57protein localization to endosome (GO:0036010)3.21732554
58atrioventricular valve morphogenesis (GO:0003181)3.19859552
59glomerular epithelial cell development (GO:0072310)3.19408647
60blood vessel maturation (GO:0001955)3.18091082
61extracellular matrix assembly (GO:0085029)3.17816917
62endothelial cell morphogenesis (GO:0001886)3.17383448
63adherens junction assembly (GO:0034333)3.16258151
64vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.16011645
65adhesion of symbiont to host (GO:0044406)3.14881646
66extracellular regulation of signal transduction (GO:1900115)3.13537507
67extracellular negative regulation of signal transduction (GO:1900116)3.13537507
68cell-substrate adherens junction assembly (GO:0007045)3.12512901
69focal adhesion assembly (GO:0048041)3.12512901
70branching involved in salivary gland morphogenesis (GO:0060445)3.10297958
71venous blood vessel morphogenesis (GO:0048845)3.07647650
72tooth mineralization (GO:0034505)3.07580657
73muscle cell migration (GO:0014812)3.07413192
74planar cell polarity pathway involved in neural tube closure (GO:0090179)3.06003537
75insulin-like growth factor receptor signaling pathway (GO:0048009)3.05681267
76keratan sulfate catabolic process (GO:0042340)3.05558311
77negative regulation of cartilage development (GO:0061037)3.04166358
78metanephric mesenchyme development (GO:0072075)3.03940279
79hyaluronan catabolic process (GO:0030214)3.03845112
80establishment of apical/basal cell polarity (GO:0035089)3.02396242
81negative regulation of axon extension involved in axon guidance (GO:0048843)2.99866268
82glomerular filtration (GO:0003094)2.99185931
83regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.98599936
84apoptotic cell clearance (GO:0043277)2.98086385
85hypotonic response (GO:0006971)2.97183245
86regulation of cardioblast differentiation (GO:0051890)2.96909172
87barbed-end actin filament capping (GO:0051016)2.95894774
88regulation of transforming growth factor beta2 production (GO:0032909)2.95631810
89kidney mesenchyme development (GO:0072074)2.93778088
90substrate-dependent cell migration (GO:0006929)2.93574526
91dermatan sulfate metabolic process (GO:0030205)2.93531708
92mesodermal cell differentiation (GO:0048333)2.93370641
93regulation of plasminogen activation (GO:0010755)2.93323874
94stress fiber assembly (GO:0043149)2.92931941
95trabecula formation (GO:0060343)2.92465988
96positive regulation of blood vessel endothelial cell migration (GO:0043536)2.92279476
97atrial septum morphogenesis (GO:0060413)2.91372435
98regulation of SMAD protein import into nucleus (GO:0060390)2.90453259
99COPI coating of Golgi vesicle (GO:0048205)2.89939067
100Golgi transport vesicle coating (GO:0048200)2.89939067
101positive regulation of osteoblast proliferation (GO:0033690)2.87547390
102lymphangiogenesis (GO:0001946)2.86648581
103heparan sulfate proteoglycan metabolic process (GO:0030201)2.85008059
104positive regulation of stem cell differentiation (GO:2000738)2.84830005
105negative regulation of embryonic development (GO:0045992)2.84570645
106maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.83776441
107positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.82546359
108cochlea morphogenesis (GO:0090103)2.81891167
109positive regulation of endothelial cell migration (GO:0010595)2.81712932
110positive regulation of axon extension (GO:0045773)2.80177680
111positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.79728984
112blood vessel endothelial cell migration (GO:0043534)2.79559313
113dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.79452211
114chondroitin sulfate biosynthetic process (GO:0030206)2.78501089
115cell-substrate junction assembly (GO:0007044)2.78496814
116cell migration involved in heart development (GO:0060973)2.76023585
117negative regulation of nitric-oxide synthase activity (GO:0051001)2.75587012
118regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.75157753
119negative regulation of stem cell proliferation (GO:2000647)2.75101899
120positive regulation of fibroblast migration (GO:0010763)2.74345288
121negative regulation of smooth muscle cell migration (GO:0014912)2.73905988
122notochord development (GO:0030903)2.73712324
123mesenchyme development (GO:0060485)2.73334567
124cell-substrate adhesion (GO:0031589)2.72806044
125G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.72537230
126protein retention in ER lumen (GO:0006621)2.72460977
127* regulation of cartilage development (GO:0061035)2.71106260
128pericardium development (GO:0060039)2.70404599
129regulation of G0 to G1 transition (GO:0070316)2.70003658
130protein localization to cell surface (GO:0034394)2.69089276
131cell-matrix adhesion (GO:0007160)2.68164702
132cranial suture morphogenesis (GO:0060363)2.67830784
133regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.65510097
134positive regulation of macrophage activation (GO:0043032)2.64239829
135positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.61837666
136positive regulation of SMAD protein import into nucleus (GO:0060391)2.60599743

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.95350288
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.91615308
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse4.53476420
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.10417800
5CLOCK_20551151_ChIP-Seq_293T_Human3.10671022
6WT1_19549856_ChIP-ChIP_CCG9911_Human2.99574006
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.86700713
8* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.77576377
9NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.70464888
10* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.57719473
11* CJUN_26792858_Chip-Seq_BT549_Human2.57067231
12EP300_21415370_ChIP-Seq_HL-1_Mouse2.56651928
13EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.47172690
14TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.41916748
15CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.40195678
16* BRD4_25478319_ChIP-Seq_HGPS_Human2.36657650
17* HIF1A_21447827_ChIP-Seq_MCF-7_Human2.27363380
18SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.26791142
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.22295764
20CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.14925683
21WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.09359542
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.07913642
23* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.90928309
24SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.90730878
25SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.90730878
26RBPJ_22232070_ChIP-Seq_NCS_Mouse1.89950197
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.89137166
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.87616069
29HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.86857211
30TP53_20018659_ChIP-ChIP_R1E_Mouse1.85378921
31PPAR_26484153_Chip-Seq_NCI-H1993_Human1.73727843
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71426804
33CDX2_19796622_ChIP-Seq_MESCs_Mouse1.68708710
34ELK3_25401928_ChIP-Seq_HUVEC_Human1.67505567
35MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.66392551
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.66295788
37NRF2_20460467_ChIP-Seq_MEFs_Mouse1.62438761
38NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.62438761
39TP53_16413492_ChIP-PET_HCT116_Human1.59704591
40* UBF1/2_26484160_Chip-Seq_HMECs_Human1.55630392
41EED_16625203_ChIP-ChIP_MESCs_Mouse1.54693339
42TP53_18474530_ChIP-ChIP_U2OS_Human1.54670863
43P300_27058665_Chip-Seq_ZR-75-30cells_Human1.52775884
44ESR2_21235772_ChIP-Seq_MCF-7_Human1.51100759
45ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.50270652
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.46605029
47ISL1_27105846_Chip-Seq_CPCs_Mouse1.43111194
48STAT6_21828071_ChIP-Seq_BEAS2B_Human1.43062597
49SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.42714050
50* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41509557
51SMC1_22415368_ChIP-Seq_MEFs_Mouse1.41351326
52ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.36566869
53TP53_23651856_ChIP-Seq_MEFs_Mouse1.36495362
54* TBX20_22328084_ChIP-Seq_HEART_Mouse1.32974671
55* TBX20_22080862_ChIP-Seq_HEART_Mouse1.32974671
56* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.30855820
57KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.30780015
58SOX9_24532713_ChIP-Seq_HFSC_Mouse1.29318090
59NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.28496981
60TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.28483810
61TP53_22127205_ChIP-Seq_IMR90_Human1.27304637
62* SOX2_20726797_ChIP-Seq_SW620_Human1.27263193
63ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.26328085
64PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.26133614
65LXR_22292898_ChIP-Seq_THP-1_Human1.26123504
66ATF3_27146783_Chip-Seq_COLON_Human1.25207923
67CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.24830240
68FOXO3_23340844_ChIP-Seq_DLD1_Human1.24769926
69UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.22548404
70EZH2_18974828_ChIP-Seq_MESCs_Mouse1.19550575
71RNF2_18974828_ChIP-Seq_MESCs_Mouse1.19550575
72ESR1_15608294_ChIP-ChIP_MCF-7_Human1.16539073
73GATA2_21666600_ChIP-Seq_HMVEC_Human1.15685689
74TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.15252999
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15237806
76SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13790950
77TCF3_18692474_ChIP-Seq_MEFs_Mouse1.13595315
78CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.13422586
79TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12787033
80KDM2B_26808549_Chip-Seq_K562_Human1.11708701
81RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.09621520
82KDM2B_26808549_Chip-Seq_SUP-B15_Human1.09455775
83DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.09156785
84ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08906488
85SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.06876750
86SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06052275
87SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05393332
88NFIB_24661679_ChIP-Seq_LUNG_Mouse1.05110907
89EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.04592030
90SA1_22415368_ChIP-Seq_MEFs_Mouse1.02547553
91RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.02534748
92EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01772723
93TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.99646928
94* TET1_21490601_ChIP-Seq_MESCs_Mouse0.99185769
95NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99068721
96HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.99063621
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.98928316
98ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98746156
99NANOG_16153702_ChIP-ChIP_HESCs_Human0.98219426
100AR_21909140_ChIP-Seq_LNCAP_Human0.98171253
101* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.97272265
102KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95987463
103FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.95478579
104SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.94812945
105ELK1_22589737_ChIP-Seq_MCF10A_Human0.94087634
106RACK7_27058665_Chip-Seq_MCF-7_Human0.93366994
107TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93342122
108SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.92881850
109NFI_21473784_ChIP-Seq_ESCs_Mouse0.92282088
110TP63_19390658_ChIP-ChIP_HaCaT_Human0.91106715
111ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.90775906
112TCF4_18268006_ChIP-ChIP_LS174T_Human0.90757276
113MTF2_20144788_ChIP-Seq_MESCs_Mouse0.90175696
114SALL1_21062744_ChIP-ChIP_HESCs_Human0.88355774
115P63_26484246_Chip-Seq_KERATINOCYTES_Human0.87064664
116FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.86865984

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.84114392
2MP0005503_abnormal_tendon_morphology4.93738511
3MP0005275_abnormal_skin_tensile4.92985488
4MP0004272_abnormal_basement_membrane3.93375006
5MP0003279_aneurysm3.53091427
6MP0005623_abnormal_meninges_morphology3.40307080
7MP0003705_abnormal_hypodermis_morpholog3.33233526
8MP0001958_emphysema2.59673792
9MP0009384_cardiac_valve_regurgitation2.56497154
10MP0006054_spinal_hemorrhage2.48052301
11MP0003566_abnormal_cell_adhesion2.36246145
12MP0003950_abnormal_plasma_membrane2.23792850
13MP0005257_abnormal_intraocular_pressure2.15646381
14MP0005508_abnormal_skeleton_morphology2.10088887
15MP0003385_abnormal_body_wall1.98113371
16MP0009250_abnormal_appendicular_skeleto1.89917357
17MP0003941_abnormal_skin_development1.81628185
18MP0010352_gastrointestinal_tract_polyps1.80812312
19MP0010030_abnormal_orbit_morphology1.76093835
20MP0009053_abnormal_anal_canal1.73081545
21MP0002060_abnormal_skin_morphology1.71908328
22MP0005023_abnormal_wound_healing1.66247166
23MP0003091_abnormal_cell_migration1.56121102
24MP0010368_abnormal_lymphatic_system1.56027824
25MP0002295_abnormal_pulmonary_circulatio1.55750645
26MP0001542_abnormal_bone_strength1.54681237
27MP0002896_abnormal_bone_mineralization1.53849375
28MP0003283_abnormal_digestive_organ1.52898537
29MP0002108_abnormal_muscle_morphology1.49613669
30MP0004084_abnormal_cardiac_muscle1.45414735
31MP0000767_abnormal_smooth_muscle1.44027844
32MP0004134_abnormal_chest_morphology1.41434788
33MP0003942_abnormal_urinary_system1.39970560
34MP0002282_abnormal_trachea_morphology1.37746056
35MP0004858_abnormal_nervous_system1.37553250
36MP0000733_abnormal_muscle_development1.34714086
37MP0000534_abnormal_ureter_morphology1.29169374
38MP0000163_abnormal_cartilage_morphology1.28049646
39MP0000013_abnormal_adipose_tissue1.27968927
40MP0001243_abnormal_dermal_layer1.27276041
41MP0003115_abnormal_respiratory_system1.24889946
42MP0002932_abnormal_joint_morphology1.22635448
43MP0002115_abnormal_skeleton_extremities1.22000495
44MP0001299_abnormal_eye_distance/1.20759768
45MP0000428_abnormal_craniofacial_morphol1.20332133
46MP0005390_skeleton_phenotype1.14655332
47MP0000537_abnormal_urethra_morphology1.14637835
48MP0002933_joint_inflammation1.14023015
49MP0003755_abnormal_palate_morphology1.12991112
50MP0002113_abnormal_skeleton_development1.12595233
51MP0000751_myopathy1.09529022
52MP0003935_abnormal_craniofacial_develop1.05204753
53MP0001849_ear_inflammation1.04692556
54MP0005197_abnormal_uvea_morphology1.03603494
55MP0003937_abnormal_limbs/digits/tail_de1.00636471
56MP0010386_abnormal_urinary_bladder0.99573493
57MP0006138_congestive_heart_failure0.99265228
58MP0000432_abnormal_head_morphology0.98317834
59MP0000049_abnormal_middle_ear0.96824653
60MP0003122_maternal_imprinting0.96807926
61MP0002877_abnormal_melanocyte_morpholog0.95558333
62MP0000750_abnormal_muscle_regeneration0.94873777
63MP0002168_other_aberrant_phenotype0.94278551
64MP0002109_abnormal_limb_morphology0.93867085
65MP0002116_abnormal_craniofacial_bone0.92882229
66MP0003045_fibrosis0.92741278
67MP0000759_abnormal_skeletal_muscle0.92722615
68MP0002128_abnormal_blood_circulation0.92100932
69MP0001879_abnormal_lymphatic_vessel0.91397320
70MP0001614_abnormal_blood_vessel0.90405240
71MP0001348_abnormal_lacrimal_gland0.90376203
72MP0001915_intracranial_hemorrhage0.89614550
73MP0009780_abnormal_chondrocyte_physiolo0.86738377
74MP0000749_muscle_degeneration0.85668261
75MP0000516_abnormal_urinary_system0.85526386
76MP0005367_renal/urinary_system_phenotyp0.85526386
77MP0003567_abnormal_fetal_cardiomyocyte0.84329825
78MP0002233_abnormal_nose_morphology0.83697747
79MP0002925_abnormal_cardiovascular_devel0.83436287
80MP0000003_abnormal_adipose_tissue0.82800957
81MP0000762_abnormal_tongue_morphology0.81421360
82MP0002111_abnormal_tail_morphology0.80987452
83MP0003123_paternal_imprinting0.80811057
84MP0002089_abnormal_postnatal_growth/wei0.80620639
85MP0002697_abnormal_eye_size0.80542028
86MP0002998_abnormal_bone_remodeling0.79399154
87MP0005076_abnormal_cell_differentiation0.78532857
88MP0005164_abnormal_response_to0.78021206
89MP0003300_gastrointestinal_ulcer0.77293475
90MP0001175_abnormal_lung_morphology0.75648554
91MP0004087_abnormal_muscle_fiber0.75017981
92MP0002114_abnormal_axial_skeleton0.73194947
93MP0010630_abnormal_cardiac_muscle0.72995957
94MP0003795_abnormal_bone_structure0.72467377
95MP0008775_abnormal_heart_ventricle0.71766521
96MP0000858_altered_metastatic_potential0.71191401
97MP0003828_pulmonary_edema0.70614829
98MP0005330_cardiomyopathy0.69982500
99MP0004197_abnormal_fetal_growth/weight/0.69201983
100MP0005171_absent_coat_pigmentation0.69171780
101MP0002249_abnormal_larynx_morphology0.68874360
102MP0000462_abnormal_digestive_system0.68476282
103MP0005193_abnormal_anterior_eye0.67298681
104MP0005595_abnormal_vascular_smooth0.66872628
105MP0003119_abnormal_digestive_system0.65178874
106MP0002254_reproductive_system_inflammat0.64418417
107MP0003191_abnormal_cellular_cholesterol0.63735272
108MP0003448_altered_tumor_morphology0.63589740
109MP0000266_abnormal_heart_morphology0.63531985
110MP0002177_abnormal_outer_ear0.63273462
111MP0005165_increased_susceptibility_to0.62495413
112MP0004233_abnormal_muscle_weight0.61661395
113MP0001544_abnormal_cardiovascular_syste0.60810124
114MP0005621_abnormal_cell_physiology0.58707256
115MP0002133_abnormal_respiratory_system0.58233276
116MP0005388_respiratory_system_phenotype0.58233276
117MP0009840_abnormal_foam_cell0.57784700
118MP0000538_abnormal_urinary_bladder0.57229921
119MP0000467_abnormal_esophagus_morphology0.56131846
120MP0005409_darkened_coat_color0.52072172
121MP0000343_altered_response_to0.47594965

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)8.19669822
2Protrusio acetabuli (HP:0003179)7.97501699
3Aortic dissection (HP:0002647)5.20812352
4Shallow orbits (HP:0000586)4.81445377
5Atrophic scars (HP:0001075)4.64761045
6Soft skin (HP:0000977)4.50193731
7Ankle contracture (HP:0006466)4.32340499
8Cerebral aneurysm (HP:0004944)4.24493926
9Peritonitis (HP:0002586)4.23558496
10Abnormality of dentin (HP:0010299)4.05984145
11Fragile skin (HP:0001030)3.95208045
12Bladder diverticulum (HP:0000015)3.90079805
13Broad metatarsal (HP:0001783)3.82262095
14Cervical subluxation (HP:0003308)3.74557627
15Aortic aneurysm (HP:0004942)3.68560052
16Neonatal short-limb short stature (HP:0008921)3.68254824
17Dilatation of the ascending aorta (HP:0005111)3.64053957
18Genu recurvatum (HP:0002816)3.56142441
19Mitral valve prolapse (HP:0001634)3.48645000
20Blue sclerae (HP:0000592)3.40906624
21Wormian bones (HP:0002645)3.39799524
22Type 1 muscle fiber predominance (HP:0003803)3.09042706
23Biconcave vertebral bodies (HP:0004586)2.97624880
24Spinal rigidity (HP:0003306)2.97154645
25Follicular hyperkeratosis (HP:0007502)2.96441041
26Wrist flexion contracture (HP:0001239)2.91131830
27Bowel diverticulosis (HP:0005222)2.71205249
28Vertebral compression fractures (HP:0002953)2.70539116
29Abnormal delivery (HP:0001787)2.68095463
30Increased connective tissue (HP:0009025)2.66166003
31Abnormality of the acetabulum (HP:0003170)2.63224515
32Hyperextensible skin (HP:0000974)2.59677891
33Mesomelia (HP:0003027)2.56627576
34Vascular tortuosity (HP:0004948)2.48963218
35Wide anterior fontanel (HP:0000260)2.47072335
36Joint laxity (HP:0001388)2.46895900
37Hypoventilation (HP:0002791)2.45852093
38Osteoarthritis (HP:0002758)2.44214194
39Spondylolisthesis (HP:0003302)2.43108868
40Abnormality of skeletal muscle fiber size (HP:0012084)2.41852533
41Ectopia lentis (HP:0001083)2.40277457
42Aneurysm (HP:0002617)2.35540267
43Overgrowth (HP:0001548)2.35199644
44Elbow flexion contracture (HP:0002987)2.33031618
45Infantile muscular hypotonia (HP:0008947)2.31416460
46Hip contracture (HP:0003273)2.27654119
47Aortic valve stenosis (HP:0001650)2.25199288
48Arterial tortuosity (HP:0005116)2.24186795
49Hypoplastic ischia (HP:0003175)2.23219441
50Camptodactyly of toe (HP:0001836)2.23007345
51Breech presentation (HP:0001623)2.22842384
52Broad ribs (HP:0000885)2.22636928
53Deviation of the hallux (HP:0010051)2.20849280
54Broad long bones (HP:0005622)2.20493878
55Platyspondyly (HP:0000926)2.19683748
56Thin bony cortex (HP:0002753)2.17699538
57Mitral stenosis (HP:0001718)2.16273220
58Joint stiffness (HP:0001387)2.15267935
59Hallux valgus (HP:0001822)2.14027160
60Knee flexion contracture (HP:0006380)2.13819388
61Generalized amyotrophy (HP:0003700)2.13038303
62Slender build (HP:0001533)2.12214733
63Upper limb amyotrophy (HP:0009129)2.11462193
64Distal upper limb amyotrophy (HP:0007149)2.11462193
65Achilles tendon contracture (HP:0001771)2.10948628
66Buphthalmos (HP:0000557)2.10230313
67Abnormality of the peritoneum (HP:0002585)2.10042690
68Short 4th metacarpal (HP:0010044)2.09353992
69Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.09353992
70Mildly elevated creatine phosphokinase (HP:0008180)2.08981520
71Ulnar bowing (HP:0003031)2.07822279
72Tibial bowing (HP:0002982)2.06182753
73Mild short stature (HP:0003502)2.05112532
74Femoral bowing (HP:0002980)2.05016654
75Coxa vara (HP:0002812)2.04616101
76Osteolytic defects of the phalanges of the hand (HP:0009771)2.03366334
77Osteolytic defects of the hand bones (HP:0009699)2.03366334
78Radial bowing (HP:0002986)1.99508043
79Renal duplication (HP:0000075)1.98603984
80Nonimmune hydrops fetalis (HP:0001790)1.97855640
81Right ventricular cardiomyopathy (HP:0011663)1.97514342
82Long toe (HP:0010511)1.97322545
83Increased variability in muscle fiber diameter (HP:0003557)1.97187960
84Limb-girdle muscle weakness (HP:0003325)1.95553301
85Cardiovascular calcification (HP:0011915)1.95383531
86Cupped ribs (HP:0000887)1.95222119
87Epiphyseal dysplasia (HP:0002656)1.94833100
88Protruding ear (HP:0000411)1.94612220
89Limited hip movement (HP:0008800)1.93126501
90Asymmetry of the thorax (HP:0001555)1.92865974
91Round ear (HP:0100830)1.92193848
92Abnormality of the ischium (HP:0003174)1.91638322
93Abnormality of the calcaneus (HP:0008364)1.91617863
94Venous insufficiency (HP:0005293)1.91287132
95Mitral regurgitation (HP:0001653)1.90709532
96Bowed forearm bones (HP:0003956)1.89352733
97Bowing of the arm (HP:0006488)1.89352733
98Muscle fiber splitting (HP:0003555)1.88448926
99Absent frontal sinuses (HP:0002688)1.86869347
100Bell-shaped thorax (HP:0001591)1.86449941
101Venous abnormality (HP:0002624)1.86055596
102Short nail (HP:0001799)1.85526560
103Natal tooth (HP:0000695)1.85444635
104Aortic regurgitation (HP:0001659)1.85199390
105Premature skin wrinkling (HP:0100678)1.85147870
106Morphological abnormality of the middle ear (HP:0008609)1.83882102
107Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.82555624
108Inguinal hernia (HP:0000023)1.82267077
109Abnormality of the Achilles tendon (HP:0005109)1.81274226
110Spinal cord compression (HP:0002176)1.80992105
111Congenital glaucoma (HP:0001087)1.80468442
112Disproportionate tall stature (HP:0001519)1.80273988
113Broad phalanx (HP:0006009)1.80040062
114Osteopenia (HP:0000938)1.79942412
115Coronal craniosynostosis (HP:0004440)1.78343873
116Flexion contracture of toe (HP:0005830)1.77845211
117Joint contractures involving the joints of the feet (HP:0100492)1.77845211
118Hyperacusis (HP:0010780)1.75665839
119Abnormality of skull ossification (HP:0002703)1.75027929
120Abnormality of the 4th metacarpal (HP:0010012)1.73940598
121Striae distensae (HP:0001065)1.73583395
122Broad face (HP:0000283)1.73554227
123Arachnodactyly (HP:0001166)1.72082820
124Hand muscle atrophy (HP:0009130)1.71900807
125Ovoid vertebral bodies (HP:0003300)1.71432032
126Abnormal vertebral ossification (HP:0100569)1.70780585
127Thin skin (HP:0000963)1.68317986

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.61669350
2TTN4.18878088
3LATS14.02430349
4PDGFRA3.52881330
5TRIB33.42409124
6EPHB23.03940847
7LATS22.84529285
8PKN22.81300032
9PAK22.26744990
10EPHA22.26484033
11STK38L1.93125529
12PTK21.91155462
13DMPK1.90863359
14STK31.84459090
15TGFBR21.81950458
16MYLK1.76336135
17FER1.71502704
18PAK31.71491226
19RIPK11.69938919
20PAK41.69352655
21SIK11.59667521
22MET1.52617062
23EPHA31.51094395
24PTK61.48400568
25ERN11.45248914
26TRPM71.43362079
27PIK3CA1.37893074
28LIMK11.37206390
29FGFR11.36556601
30ICK1.35458926
31ZAK1.32820792
32TESK11.31537958
33BMX1.29519287
34PTK2B1.25549208
35ROCK11.25524028
36NEK91.23561231
37LRRK21.20103560
38PDGFRB1.12663344
39SMG11.12207186
40ILK1.11905753
41MTOR1.11643125
42CDC42BPA1.06055708
43ARAF1.04935777
44PIM21.03141504
45RPS6KA20.99105629
46KDR0.94026721
47PAK60.93256486
48FLT30.91121318
49TIE10.90287187
50MAP3K30.90221826
51ERBB30.90138239
52CDK80.88815152
53TGFBR10.88514254
54AKT30.87528579
55PLK20.86443296
56TAOK20.82622136
57MAP3K100.81459410
58MST1R0.81163262
59ROCK20.79977702
60RPS6KA40.79180513
61MAP2K30.77059472
62MOS0.74426092
63MAP3K60.73935504
64PIK3CG0.72043613
65NUAK10.70439365
66EPHB10.64234062
67CLK10.63735257
68PRKG20.63096125
69INSR0.60519610
70DYRK1B0.59852716
71CDK60.59366808
72GRK70.57779225
73PRKD10.57265713
74WNK10.56117587
75MAPK70.56024233
76NTRK10.55121900
77PLK30.54694866
78STK100.54471877
79PAK10.54366546
80KIT0.54245036
81TTK0.53045319
82DAPK30.52202726
83PRKD20.51116803
84PRKCH0.50022486
85SCYL20.49977220
86TESK20.49607434
87MAP2K10.48803031
88STK240.48399517
89CDK120.48232479
90PRKD30.47377845
91MAP3K80.46341962
92KSR20.43691223
93JAK30.43213658
94MAP3K130.40049859
95CAMK2G0.39412419
96FRK0.38884595
97SRC0.37898978
98MKNK10.37614258
99ABL20.37414031
100BRAF0.35722551
101RPS6KB20.34926604
102PRPF4B0.34745508
103CDK150.34565141
104MAPKAPK30.33875606
105PRKCE0.33676131
106GRK50.32672398
107MAPK10.32458013
108CDK11A0.32380317
109RPS6KL10.32362066
110RPS6KC10.32362066
111CDK90.31825500
112EEF2K0.31503851
113CDK180.31479399
114CDK140.30773328
115GSK3A0.28853584
116RET0.28724359
117PRKCI0.28587230
118ZAP700.28508016
119ERBB40.28256077
120ADRBK10.28005329
121FGFR40.26470388
122IRAK30.26080823
123NEK10.25742110
124NEK20.25609010
125MAPKAPK20.25115849
126IGF1R0.24994935
127PASK0.23548714
128AKT10.22688400
129LMTK20.21672176
130ERBB20.21589593
131MELK0.21583868
132STK380.21351257
133ABL10.21156781
134CHUK0.20533502

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.57132005
2Focal adhesion_Homo sapiens_hsa045103.55506065
3Protein digestion and absorption_Homo sapiens_hsa049743.07425674
4Amoebiasis_Homo sapiens_hsa051462.72269912
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.63334589
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.62668187
7Small cell lung cancer_Homo sapiens_hsa052222.61765867
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.55319900
9Dilated cardiomyopathy_Homo sapiens_hsa054142.50105229
10Proteoglycans in cancer_Homo sapiens_hsa052052.39053023
11Adherens junction_Homo sapiens_hsa045202.22882575
12Hippo signaling pathway_Homo sapiens_hsa043902.22588600
13AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.19259661
14TGF-beta signaling pathway_Homo sapiens_hsa043502.10679750
15Bladder cancer_Homo sapiens_hsa052192.03123420
16Basal cell carcinoma_Homo sapiens_hsa052172.01591914
17Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.93765953
18PI3K-Akt signaling pathway_Homo sapiens_hsa041511.90864867
19MicroRNAs in cancer_Homo sapiens_hsa052061.84052715
20p53 signaling pathway_Homo sapiens_hsa041151.75351487
21Hedgehog signaling pathway_Homo sapiens_hsa043401.73697481
22Malaria_Homo sapiens_hsa051441.73479019
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.55407757
24Regulation of actin cytoskeleton_Homo sapiens_hsa048101.49265747
25Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.41653801
26Viral myocarditis_Homo sapiens_hsa054161.39545468
27Chronic myeloid leukemia_Homo sapiens_hsa052201.31859392
28Pathways in cancer_Homo sapiens_hsa052001.26890454
29Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.24466841
30Tight junction_Homo sapiens_hsa045301.23701555
31Melanoma_Homo sapiens_hsa052181.20880905
32Leukocyte transendothelial migration_Homo sapiens_hsa046701.19328949
33Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18261463
34Wnt signaling pathway_Homo sapiens_hsa043101.16132213
35Toxoplasmosis_Homo sapiens_hsa051451.11826745
36Axon guidance_Homo sapiens_hsa043601.11076283
37Prostate cancer_Homo sapiens_hsa052151.03773688
38Shigellosis_Homo sapiens_hsa051311.00484342
39HTLV-I infection_Homo sapiens_hsa051661.00414185
40Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.98601754
41Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.96394960
42Pancreatic cancer_Homo sapiens_hsa052120.93950055
43Rap1 signaling pathway_Homo sapiens_hsa040150.93455670
44Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.92440475
45Platelet activation_Homo sapiens_hsa046110.91790542
46Galactose metabolism_Homo sapiens_hsa000520.90814365
47Melanogenesis_Homo sapiens_hsa049160.86730359
48Cell cycle_Homo sapiens_hsa041100.84004212
49HIF-1 signaling pathway_Homo sapiens_hsa040660.78492065
50Phagosome_Homo sapiens_hsa041450.76352109
51Pentose phosphate pathway_Homo sapiens_hsa000300.75566283
52Glycosaminoglycan degradation_Homo sapiens_hsa005310.74296349
53Colorectal cancer_Homo sapiens_hsa052100.74116374
54Renal cell carcinoma_Homo sapiens_hsa052110.73266430
55Glioma_Homo sapiens_hsa052140.70265042
56N-Glycan biosynthesis_Homo sapiens_hsa005100.69726812
57Viral carcinogenesis_Homo sapiens_hsa052030.68621982
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66147597
59TNF signaling pathway_Homo sapiens_hsa046680.64585231
60Notch signaling pathway_Homo sapiens_hsa043300.63893562
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.63732176
62Ovarian steroidogenesis_Homo sapiens_hsa049130.61654339
63Lysine degradation_Homo sapiens_hsa003100.59008404
64Renin-angiotensin system_Homo sapiens_hsa046140.58760235
65Vascular smooth muscle contraction_Homo sapiens_hsa042700.57912197
66FoxO signaling pathway_Homo sapiens_hsa040680.57527361
67Hepatitis B_Homo sapiens_hsa051610.55769221
68Salmonella infection_Homo sapiens_hsa051320.55416515
69Sulfur metabolism_Homo sapiens_hsa009200.53873801
70cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53012498
71Apoptosis_Homo sapiens_hsa042100.52507067
72Endometrial cancer_Homo sapiens_hsa052130.51827639
73Thyroid hormone synthesis_Homo sapiens_hsa049180.50480143
74Estrogen signaling pathway_Homo sapiens_hsa049150.49536068
75Ras signaling pathway_Homo sapiens_hsa040140.48218615
76Gap junction_Homo sapiens_hsa045400.47609429
77Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.47124834
78Non-small cell lung cancer_Homo sapiens_hsa052230.45670737
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45174496
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44780893
81Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.44596729
82ErbB signaling pathway_Homo sapiens_hsa040120.44270335
83Cocaine addiction_Homo sapiens_hsa050300.43410767
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42058631
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.41982749
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.41109537
87Endocytosis_Homo sapiens_hsa041440.39478496
88Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38160162
89Lysosome_Homo sapiens_hsa041420.37966563
90Insulin resistance_Homo sapiens_hsa049310.37904523
91Leishmaniasis_Homo sapiens_hsa051400.37353266
92mTOR signaling pathway_Homo sapiens_hsa041500.37090217
93AMPK signaling pathway_Homo sapiens_hsa041520.35931683
94Sphingolipid metabolism_Homo sapiens_hsa006000.35877107
95Other glycan degradation_Homo sapiens_hsa005110.35850053
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35730467
97Thyroid cancer_Homo sapiens_hsa052160.34488321
98Prion diseases_Homo sapiens_hsa050200.34283153
99Fructose and mannose metabolism_Homo sapiens_hsa000510.33985879
100Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33864835
101Biosynthesis of amino acids_Homo sapiens_hsa012300.33155383
102Neurotrophin signaling pathway_Homo sapiens_hsa047220.32589395
103MAPK signaling pathway_Homo sapiens_hsa040100.30067830
104Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.29951404
105Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.28320741
106Vibrio cholerae infection_Homo sapiens_hsa051100.27312550
107VEGF signaling pathway_Homo sapiens_hsa043700.26487806
108Pertussis_Homo sapiens_hsa051330.26465646
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.26252318
110Transcriptional misregulation in cancer_Homo sapiens_hsa052020.25860031
111Phospholipase D signaling pathway_Homo sapiens_hsa040720.24560391
112One carbon pool by folate_Homo sapiens_hsa006700.24046098
113GnRH signaling pathway_Homo sapiens_hsa049120.23288616

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