ITGA11

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 an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)8.15781019
2protein heterotrimerization (GO:0070208)7.86328875
3bone trabecula formation (GO:0060346)7.70363256
4chondrocyte proliferation (GO:0035988)6.81915465
5sequestering of extracellular ligand from receptor (GO:0035581)6.73668433
6endodermal cell differentiation (GO:0035987)6.22072125
7skin morphogenesis (GO:0043589)5.87063429
8positive regulation of endothelial cell apoptotic process (GO:2000353)5.44556611
9cartilage development involved in endochondral bone morphogenesis (GO:0060351)5.16570977
10collagen metabolic process (GO:0032963)5.11187369
11negative regulation of fatty acid transport (GO:2000192)5.09807855
12collagen catabolic process (GO:0030574)5.04428390
13wound healing, spreading of epidermal cells (GO:0035313)5.02966074
14extracellular fibril organization (GO:0043206)4.99289630
15regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.91375510
16extracellular matrix assembly (GO:0085029)4.87746385
17multicellular organismal macromolecule metabolic process (GO:0044259)4.77231589
18dermatan sulfate biosynthetic process (GO:0030208)4.75060535
19craniofacial suture morphogenesis (GO:0097094)4.66069881
20neuron projection extension involved in neuron projection guidance (GO:1902284)4.65206950
21axon extension involved in axon guidance (GO:0048846)4.65206950
22cellular response to vitamin (GO:0071295)4.62127761
23multicellular organismal catabolic process (GO:0044243)4.60942629
24cellular response to vitamin D (GO:0071305)4.59753791
25fibril organization (GO:0097435)4.49740620
26multicellular organismal metabolic process (GO:0044236)4.48503268
27dermatan sulfate metabolic process (GO:0030205)4.38986201
28extracellular matrix disassembly (GO:0022617)4.27428646
29peptidyl-proline hydroxylation (GO:0019511)4.18162767
30positive regulation of fibroblast migration (GO:0010763)4.17972554
31type B pancreatic cell proliferation (GO:0044342)4.10273735
32regulation of plasminogen activation (GO:0010755)4.07935742
33cranial suture morphogenesis (GO:0060363)4.05639873
34metanephric mesenchyme development (GO:0072075)4.04752898
35keratan sulfate catabolic process (GO:0042340)3.99393597
36wound healing, spreading of cells (GO:0044319)3.98119900
37mesenchymal-epithelial cell signaling (GO:0060638)3.97321321
38endocardial cushion development (GO:0003197)3.95960347
39tooth mineralization (GO:0034505)3.88498227
40chondrocyte development (GO:0002063)3.88086771
41negative regulation of chondrocyte differentiation (GO:0032331)3.87546459
42kidney mesenchyme development (GO:0072074)3.73610081
43peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.68896506
44negative regulation of focal adhesion assembly (GO:0051895)3.67670670
45negative regulation of cell junction assembly (GO:1901889)3.67670670
46negative regulation of adherens junction organization (GO:1903392)3.67670670
47epithelial cell-cell adhesion (GO:0090136)3.66114666
48positive regulation of epithelial to mesenchymal transition (GO:0010718)3.64450056
49extracellular negative regulation of signal transduction (GO:1900116)3.64204183
50extracellular regulation of signal transduction (GO:1900115)3.64204183
51planar cell polarity pathway involved in neural tube closure (GO:0090179)3.64161376
52plasma membrane repair (GO:0001778)3.61882230
53negative regulation of fibrinolysis (GO:0051918)3.59129302
54* extracellular matrix organization (GO:0030198)3.52791814
55* extracellular structure organization (GO:0043062)3.51520978
56substrate adhesion-dependent cell spreading (GO:0034446)3.50428031
57adhesion of symbiont to host (GO:0044406)3.50067289
58smooth muscle tissue development (GO:0048745)3.47267495
59protein hydroxylation (GO:0018126)3.46796071
60positive regulation of blood vessel endothelial cell migration (GO:0043536)3.46151095
61regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.45626017
62adhesion of symbiont to host cell (GO:0044650)3.41218025
63virion attachment to host cell (GO:0019062)3.41218025
64heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.40065442
65negative regulation of embryonic development (GO:0045992)3.38975121
66basement membrane organization (GO:0071711)3.34276511
67actin filament depolymerization (GO:0030042)3.31359333
68positive regulation of collagen biosynthetic process (GO:0032967)3.30259864
69apoptotic cell clearance (GO:0043277)3.26662444
70retina vasculature morphogenesis in camera-type eye (GO:0061299)3.26220736
71trabecula formation (GO:0060343)3.25414229
72cell migration involved in heart development (GO:0060973)3.24257565
73vascular endothelial growth factor signaling pathway (GO:0038084)3.19184640
74negative regulation of cartilage development (GO:0061037)3.15694172
75* cell adhesion mediated by integrin (GO:0033627)3.15550510
76positive regulation of collagen metabolic process (GO:0010714)3.13745232
77regulation of collagen metabolic process (GO:0010712)3.13505588
78regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.12727030
79cellular response to amino acid stimulus (GO:0071230)3.10364660
80cell-substrate junction assembly (GO:0007044)3.08307719
81regulation of tight junction assembly (GO:2000810)3.06813927
82negative regulation of BMP signaling pathway (GO:0030514)3.06768376
83positive regulation of osteoblast proliferation (GO:0033690)3.06131557
84regulation of integrin-mediated signaling pathway (GO:2001044)3.06131253
85regulation of SMAD protein import into nucleus (GO:0060390)3.05865440
86glomerular basement membrane development (GO:0032836)3.05664481
87cell aggregation (GO:0098743)3.03991534
88cartilage condensation (GO:0001502)3.03991534
89response to fluid shear stress (GO:0034405)3.03946755
90chondroitin sulfate catabolic process (GO:0030207)3.03458877
91pericardium development (GO:0060039)3.03348574
92camera-type eye morphogenesis (GO:0048593)3.03330198
93face morphogenesis (GO:0060325)3.02813513
94negative regulation of smooth muscle cell migration (GO:0014912)3.02652269
95endothelial cell morphogenesis (GO:0001886)3.02295974
96positive regulation of axon extension (GO:0045773)3.01091787
97cell migration involved in sprouting angiogenesis (GO:0002042)3.00497171
98protein localization to cell surface (GO:0034394)3.00427212
99regulation of collagen biosynthetic process (GO:0032965)3.00098127
100embryonic cranial skeleton morphogenesis (GO:0048701)2.99666612
101lymphangiogenesis (GO:0001946)2.98069273
102chondroitin sulfate biosynthetic process (GO:0030206)2.97224424
103regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.96635601
104regulation of cartilage development (GO:0061035)2.95795787
105regulation of chondrocyte differentiation (GO:0032330)2.95752802
106sprouting angiogenesis (GO:0002040)2.94334308
107regulation of extracellular matrix disassembly (GO:0010715)2.93003420
108negative regulation of axon extension involved in axon guidance (GO:0048843)2.91710236
109protein retention in ER lumen (GO:0006621)2.91389887
110cellular response to interferon-alpha (GO:0035457)2.89813398
111endothelial cell proliferation (GO:0001935)2.89471074
112pathway-restricted SMAD protein phosphorylation (GO:0060389)2.87675606
113positive regulation of macrophage activation (GO:0043032)2.87344022
114outer ear morphogenesis (GO:0042473)2.85503812
115venous blood vessel morphogenesis (GO:0048845)2.85139936
116endochondral ossification (GO:0001958)2.84828551
117replacement ossification (GO:0036075)2.84828551
118negative regulation of cell-matrix adhesion (GO:0001953)2.84768787
119positive regulation of cartilage development (GO:0061036)2.82326972
120G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.81935634
121positive regulation of SMAD protein import into nucleus (GO:0060391)2.81048496
122blood vessel maturation (GO:0001955)2.80153940
123stress fiber assembly (GO:0043149)2.79188313
124maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.78056335
125muscle cell migration (GO:0014812)2.75633422
126heparan sulfate proteoglycan metabolic process (GO:0030201)2.73067212
127regulation of osteoblast proliferation (GO:0033688)2.72397943
128regulation of axon extension involved in axon guidance (GO:0048841)2.71443410
129vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.69539495
130cochlea morphogenesis (GO:0090103)2.67018211

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* TRIM28_21343339_ChIP-Seq_HEK293_Human6.66344833
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.82015378
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.73009285
4* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.48143129
5RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.99139909
6TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.93060639
7ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.82828797
8CJUN_26792858_Chip-Seq_BT549_Human2.69373905
9CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.63319280
10WT1_19549856_ChIP-ChIP_CCG9911_Human2.44922629
11CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.38980204
12CLOCK_20551151_ChIP-Seq_293T_Human2.29796263
13SMAD_19615063_ChIP-ChIP_OVARY_Human2.27318423
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.25764516
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.22781507
16BRD4_25478319_ChIP-Seq_HGPS_Human2.21372467
17WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.11834702
18* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.05635131
19RNF2_18974828_ChIP-Seq_MESCs_Mouse2.03494596
20EZH2_18974828_ChIP-Seq_MESCs_Mouse2.03494596
21NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.94329307
22NRF2_20460467_ChIP-Seq_MEFs_Mouse1.94329307
23* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.86529586
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.84638661
25* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.84325832
26SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.83932984
27TP53_20018659_ChIP-ChIP_R1E_Mouse1.77294252
28* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.74575954
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.71664096
30SMC1_22415368_ChIP-Seq_MEFs_Mouse1.70445658
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.67102376
32TP53_18474530_ChIP-ChIP_U2OS_Human1.64490958
33HIF1A_21447827_ChIP-Seq_MCF-7_Human1.64108236
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.63777931
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.59775885
36JARID2_20075857_ChIP-Seq_MESCs_Mouse1.59452575
37TP53_16413492_ChIP-PET_HCT116_Human1.58839527
38CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.56621753
39PPAR_26484153_Chip-Seq_NCI-H1993_Human1.56579927
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.55170916
41EGR1_19374776_ChIP-ChIP_THP-1_Human1.54157648
42HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.50110129
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.48547593
44* TP53_23651856_ChIP-Seq_MEFs_Mouse1.47372786
45ESR1_21235772_ChIP-Seq_MCF-7_Human1.47256799
46* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43494050
47EZH2_27304074_Chip-Seq_ESCs_Mouse1.43441647
48ELK3_25401928_ChIP-Seq_HUVEC_Human1.43304213
49ESR2_21235772_ChIP-Seq_MCF-7_Human1.43110267
50* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.39506517
51PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38593388
52P300_27058665_Chip-Seq_ZR-75-30cells_Human1.37144953
53* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.36736334
54SMC3_22415368_ChIP-Seq_MEFs_Mouse1.34537876
55SA1_22415368_ChIP-Seq_MEFs_Mouse1.32910000
56SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.32129901
57SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.32129901
58NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.31380550
59JARID2_20064375_ChIP-Seq_MESCs_Mouse1.28609507
60* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.25802950
61RNF2_27304074_Chip-Seq_ESCs_Mouse1.23404724
62ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20731101
63ISL1_27105846_Chip-Seq_CPCs_Mouse1.18025912
64* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.17934177
65TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.17772455
66UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17605328
67MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.16635703
68UBF1/2_26484160_Chip-Seq_HMECs_Human1.16177928
69TBX20_22080862_ChIP-Seq_HEART_Mouse1.14936770
70TBX20_22328084_ChIP-Seq_HEART_Mouse1.14936770
71SOX2_20726797_ChIP-Seq_SW620_Human1.14444197
72FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.13804804
73AHR_22903824_ChIP-Seq_MCF-7_Human1.08715503
74CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.07364058
75ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.07109593
76TP53_22127205_ChIP-Seq_IMR90_Human1.06955384
77TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06224648
78* DROSHA_22980978_ChIP-Seq_HELA_Human1.05636920
79TBX3_20139965_ChIP-Seq_ESCs_Mouse1.04840387
80TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04153636
81CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03382421
82FOXO3_23340844_ChIP-Seq_DLD1_Human1.03072110
83TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.02666980
84ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02063181
85SALL4_18804426_ChIP-ChIP_XEN_Mouse1.01994605
86NFI_21473784_ChIP-Seq_ESCs_Mouse1.00390650
87ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00037786
88* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.99837589
89ESR1_15608294_ChIP-ChIP_MCF-7_Human0.99757978
90AR_21572438_ChIP-Seq_LNCaP_Human0.99423888
91PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.99208560
92ARNT_22903824_ChIP-Seq_MCF-7_Human0.98441598
93RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.98312844
94PIAS1_25552417_ChIP-Seq_VCAP_Human0.98184448
95GATA2_21666600_ChIP-Seq_HMVEC_Human0.97773574
96KDM2B_26808549_Chip-Seq_SUP-B15_Human0.97705303
97ZFP57_27257070_Chip-Seq_ESCs_Mouse0.97450177
98DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.95670575
99PCGF2_27294783_Chip-Seq_NPCs_Mouse0.94932981
100ZFP281_27345836_Chip-Seq_ESCs_Mouse0.93689219
101* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92077651
102ATF3_27146783_Chip-Seq_COLON_Human0.91094776
103GBX2_23144817_ChIP-Seq_PC3_Human0.90847701
104SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.90662460
105NFIB_24661679_ChIP-Seq_LUNG_Mouse0.90635695
106TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.89376028
107EZH2_27294783_Chip-Seq_ESCs_Mouse0.89290652
108ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.88515764
109KDM2B_26808549_Chip-Seq_K562_Human0.88254275
110TP63_23658742_ChIP-Seq_EP156T_Human0.88208054
111SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.88160421
112NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.86835378
113* PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.85240400
114PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.85091670
115SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.82804148
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82331290
117ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.81171366
118GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.80572642
119NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.80306642
120Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.80100393
121NR3C1_23031785_ChIP-Seq_PC12_Mouse0.79515978

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.46383214
2MP0005503_abnormal_tendon_morphology6.57703548
3MP0005275_abnormal_skin_tensile6.19186165
4MP0003279_aneurysm4.22756384
5MP0003705_abnormal_hypodermis_morpholog3.72109970
6MP0001958_emphysema3.45046542
7MP0005257_abnormal_intraocular_pressure2.94109335
8MP0005623_abnormal_meninges_morphology2.91859228
9MP0006054_spinal_hemorrhage2.55965974
10MP0004272_abnormal_basement_membrane2.52932680
11MP0005508_abnormal_skeleton_morphology2.49450254
12MP0009384_cardiac_valve_regurgitation2.39048830
13MP0002295_abnormal_pulmonary_circulatio2.36613581
14MP0002060_abnormal_skin_morphology2.08593049
15MP0002108_abnormal_muscle_morphology2.02450589
16MP0001542_abnormal_bone_strength2.02279669
17MP0003283_abnormal_digestive_organ1.94376021
18MP0004134_abnormal_chest_morphology1.88469537
19MP0010352_gastrointestinal_tract_polyps1.85933639
20MP0005023_abnormal_wound_healing1.84860066
21MP0009250_abnormal_appendicular_skeleto1.84546942
22MP0001348_abnormal_lacrimal_gland1.73013692
23MP0003385_abnormal_body_wall1.72818316
24MP0001243_abnormal_dermal_layer1.68577088
25* MP0003566_abnormal_cell_adhesion1.67829673
26MP0003091_abnormal_cell_migration1.54261210
27MP0000013_abnormal_adipose_tissue1.49145300
28MP0005390_skeleton_phenotype1.44546036
29MP0000767_abnormal_smooth_muscle1.38644700
30MP0002896_abnormal_bone_mineralization1.37852616
31MP0003950_abnormal_plasma_membrane1.37162032
32MP0010030_abnormal_orbit_morphology1.33595048
33MP0002933_joint_inflammation1.32360612
34MP0000733_abnormal_muscle_development1.18594653
35MP0000163_abnormal_cartilage_morphology1.18499402
36MP0002932_abnormal_joint_morphology1.18469595
37MP0002115_abnormal_skeleton_extremities1.17930083
38MP0002282_abnormal_trachea_morphology1.17306091
39MP0001299_abnormal_eye_distance/1.11886774
40MP0009053_abnormal_anal_canal1.10578546
41MP0009780_abnormal_chondrocyte_physiolo1.10484011
42MP0002998_abnormal_bone_remodeling1.09467653
43MP0000749_muscle_degeneration1.06823042
44MP0003045_fibrosis1.04939101
45MP0000428_abnormal_craniofacial_morphol1.04223572
46MP0002113_abnormal_skeleton_development1.03741464
47MP0003115_abnormal_respiratory_system1.03126812
48MP0000751_myopathy1.00363077
49MP0002168_other_aberrant_phenotype1.00180270
50MP0004858_abnormal_nervous_system0.98360841
51MP0003941_abnormal_skin_development0.95801163
52MP0002254_reproductive_system_inflammat0.95187932
53MP0003755_abnormal_palate_morphology0.93762295
54MP0005171_absent_coat_pigmentation0.93004347
55MP0010368_abnormal_lymphatic_system0.92927225
56MP0000003_abnormal_adipose_tissue0.89481716
57MP0005595_abnormal_vascular_smooth0.82924363
58MP0003448_altered_tumor_morphology0.82865322
59MP0002233_abnormal_nose_morphology0.82563953
60MP0001533_abnormal_skeleton_physiology0.82330056
61MP0003942_abnormal_urinary_system0.81869411
62MP0000538_abnormal_urinary_bladder0.81650970
63MP0000049_abnormal_middle_ear0.81175214
64MP0003795_abnormal_bone_structure0.80538908
65MP0000534_abnormal_ureter_morphology0.80091072
66MP0004084_abnormal_cardiac_muscle0.79225065
67MP0002116_abnormal_craniofacial_bone0.79021946
68MP0002128_abnormal_blood_circulation0.78731030
69MP0002109_abnormal_limb_morphology0.78074289
70MP0002877_abnormal_melanocyte_morpholog0.77813028
71MP0003300_gastrointestinal_ulcer0.77246709
72MP0002089_abnormal_postnatal_growth/wei0.76461037
73MP0003935_abnormal_craniofacial_develop0.76152823
74MP0005084_abnormal_gallbladder_morpholo0.74255667
75* MP0000432_abnormal_head_morphology0.73253941
76MP0001177_atelectasis0.72608646
77MP0000462_abnormal_digestive_system0.71372120
78MP0000569_abnormal_digit_pigmentation0.70683444
79MP0002837_dystrophic_cardiac_calcinosis0.69634937
80MP0005388_respiratory_system_phenotype0.69453622
81MP0002133_abnormal_respiratory_system0.69453622
82MP0002111_abnormal_tail_morphology0.68477855
83MP0002249_abnormal_larynx_morphology0.68406386
84MP0001614_abnormal_blood_vessel0.68335898
85MP0000516_abnormal_urinary_system0.66450505
86MP0005367_renal/urinary_system_phenotyp0.66450505
87MP0002928_abnormal_bile_duct0.65787005
88MP0002114_abnormal_axial_skeleton0.65469282
89MP0001175_abnormal_lung_morphology0.64009422
90MP0005164_abnormal_response_to0.62098637
91MP0005197_abnormal_uvea_morphology0.61476267
92MP0005193_abnormal_anterior_eye0.59914613
93MP0002697_abnormal_eye_size0.58912860
94MP0004036_abnormal_muscle_relaxation0.58862303
95MP0004883_abnormal_blood_vessel0.58099280
96MP0002177_abnormal_outer_ear0.58064534
97MP0010386_abnormal_urinary_bladder0.57524376
98MP0000762_abnormal_tongue_morphology0.57064377
99MP0005076_abnormal_cell_differentiation0.56662691
100MP0000759_abnormal_skeletal_muscle0.56614939
101MP0004233_abnormal_muscle_weight0.56088909
102MP0005620_abnormal_muscle_contractility0.55856867
103MP0005220_abnormal_exocrine_pancreas0.55219990
104MP0005369_muscle_phenotype0.54920672
105MP0000750_abnormal_muscle_regeneration0.54749700
106MP0002925_abnormal_cardiovascular_devel0.53799491
107MP0006138_congestive_heart_failure0.53564025
108MP0001915_intracranial_hemorrhage0.52289153
109MP0005165_increased_susceptibility_to0.52248992
110MP0000467_abnormal_esophagus_morphology0.52127991
111MP0003937_abnormal_limbs/digits/tail_de0.51107631
112MP0001270_distended_abdomen0.50515562
113MP0004087_abnormal_muscle_fiber0.50141882
114MP0001879_abnormal_lymphatic_vessel0.49943936
115MP0010771_integument_phenotype0.49721617
116MP0001849_ear_inflammation0.49281685
117MP0000343_altered_response_to0.47265729

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)9.71375991
2Peritonitis (HP:0002586)6.00185836
3Aortic dissection (HP:0002647)5.83839907
4Shallow orbits (HP:0000586)5.36070156
5Atrophic scars (HP:0001075)5.27304905
6Soft skin (HP:0000977)5.20003464
7Abnormality of dentin (HP:0010299)4.97100120
8Bladder diverticulum (HP:0000015)4.87292319
9Broad metatarsal (HP:0001783)4.80574796
10Ankle contracture (HP:0006466)4.63883810
11Genu recurvatum (HP:0002816)4.58441720
12Fragile skin (HP:0001030)4.55028203
13Biconcave vertebral bodies (HP:0004586)4.34707754
14Dilatation of the ascending aorta (HP:0005111)4.31589038
15Aortic aneurysm (HP:0004942)4.28271377
16Neonatal short-limb short stature (HP:0008921)4.27183633
17Blue sclerae (HP:0000592)3.91498096
18Cerebral aneurysm (HP:0004944)3.83399230
19Vertebral compression fractures (HP:0002953)3.82203334
20Mitral valve prolapse (HP:0001634)3.81911748
21Wormian bones (HP:0002645)3.72225825
22Cervical subluxation (HP:0003308)3.67318526
23Bowel diverticulosis (HP:0005222)3.67036151
24Wrist flexion contracture (HP:0001239)3.42297922
25Abnormal delivery (HP:0001787)3.40510201
26Infantile muscular hypotonia (HP:0008947)3.31956156
27Follicular hyperkeratosis (HP:0007502)3.30303343
28Hyperextensible skin (HP:0000974)3.17195179
29Ectopia lentis (HP:0001083)3.06371248
30Vascular tortuosity (HP:0004948)3.05394094
31Spinal rigidity (HP:0003306)2.98762875
32Type 1 muscle fiber predominance (HP:0003803)2.98374388
33Breech presentation (HP:0001623)2.84553868
34Broad ribs (HP:0000885)2.82111441
35Abnormality of the acetabulum (HP:0003170)2.81231671
36Overgrowth (HP:0001548)2.75788305
37Abnormality of the peritoneum (HP:0002585)2.64207606
38Joint laxity (HP:0001388)2.63605490
39Deviation of the hallux (HP:0010051)2.59858805
40Camptodactyly of toe (HP:0001836)2.56931428
41Spondylolisthesis (HP:0003302)2.55327905
42Hallux valgus (HP:0001822)2.55175486
43Wide anterior fontanel (HP:0000260)2.54952369
44Thin bony cortex (HP:0002753)2.51197166
45Osteoarthritis (HP:0002758)2.50168852
46Nonimmune hydrops fetalis (HP:0001790)2.48075905
47Round ear (HP:0100830)2.47408507
48Mitral regurgitation (HP:0001653)2.46690376
49Mild short stature (HP:0003502)2.45486844
50Slender build (HP:0001533)2.44564163
51Elbow flexion contracture (HP:0002987)2.42578263
52Absent frontal sinuses (HP:0002688)2.41973179
53Increased connective tissue (HP:0009025)2.41473419
54Increased variability in muscle fiber diameter (HP:0003557)2.40399106
55Tibial bowing (HP:0002982)2.33870308
56Ovoid vertebral bodies (HP:0003300)2.32577591
57Morphological abnormality of the middle ear (HP:0008609)2.31362920
58Aneurysm (HP:0002617)2.31244426
59Redundant skin (HP:0001582)2.30208218
60Hypoplasia of the iris (HP:0007676)2.28655693
61Aortic regurgitation (HP:0001659)2.19350038
62Mesomelia (HP:0003027)2.15838821
63Femoral bowing (HP:0002980)2.14878488
64Arterial tortuosity (HP:0005116)2.14245872
65Hypoventilation (HP:0002791)2.13890184
66Congenital glaucoma (HP:0001087)2.13594272
67Renal duplication (HP:0000075)2.13491736
68Venous insufficiency (HP:0005293)2.12379996
69Delayed closure of the anterior fontanelle (HP:0001476)2.11234186
70Joint stiffness (HP:0001387)2.09722405
71Aortic valve stenosis (HP:0001650)2.09605115
72Venous abnormality (HP:0002624)2.04769083
73Abnormality of skeletal muscle fiber size (HP:0012084)2.04495514
74Cardiovascular calcification (HP:0011915)2.04152538
75Abnormality of the anterior chamber (HP:0000593)2.03256133
76Pulmonary artery stenosis (HP:0004415)2.03218398
77Bell-shaped thorax (HP:0001591)2.03043498
78Ulnar deviation of the wrist (HP:0003049)2.02690829
79Mildly elevated creatine phosphokinase (HP:0008180)2.02558574
80Coxa vara (HP:0002812)2.01392798
81Flat cornea (HP:0007720)2.00706986
82Broad long bones (HP:0005622)2.00689996
83Protrusio acetabuli (HP:0003179)10.0149781
84Disproportionate tall stature (HP:0001519)1.99267698
85Buphthalmos (HP:0000557)1.99141972
86Decreased skull ossification (HP:0004331)1.98358860
87Increased corneal curvature (HP:0100692)1.98349206
88Keratoconus (HP:0000563)1.98349206
89Joint contractures involving the joints of the feet (HP:0100492)1.95652177
90Flexion contracture of toe (HP:0005830)1.95652177
91Mitral stenosis (HP:0001718)1.94968990
92Striae distensae (HP:0001065)1.93974310
93Ulnar bowing (HP:0003031)1.93774171
94Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.93488994
95Platyspondyly (HP:0000926)1.92759567
96Osteopenia (HP:0000938)1.92349541
97Inguinal hernia (HP:0000023)1.91888200
98Coronal craniosynostosis (HP:0004440)1.84840817
99Knee flexion contracture (HP:0006380)1.84658446
100Abnormality of skull ossification (HP:0002703)1.83563361
101Thin skin (HP:0000963)1.81756545
102Delayed gross motor development (HP:0002194)1.81686298
103Flared iliac wings (HP:0002869)1.80607082
104Osteolytic defects of the hand bones (HP:0009699)1.80355939
105Osteolytic defects of the phalanges of the hand (HP:0009771)1.80355939
106Hip contracture (HP:0003273)1.78238350
107Protruding ear (HP:0000411)1.75184392
108Premature skin wrinkling (HP:0100678)1.74406777
109Bowing of the arm (HP:0006488)1.73948822
110Bowed forearm bones (HP:0003956)1.73948822
111Right ventricular cardiomyopathy (HP:0011663)1.72387044
112Delayed cranial suture closure (HP:0000270)1.70519749
113Spinal cord compression (HP:0002176)1.68698793
114Beaking of vertebral bodies (HP:0004568)1.68214323
115Slender long bone (HP:0003100)1.66684514
116Tarsal synostosis (HP:0008368)1.64244440
117Asymmetry of the thorax (HP:0001555)1.63948665
118Distal upper limb amyotrophy (HP:0007149)1.63716964
119Upper limb amyotrophy (HP:0009129)1.63716964
120Limited hip movement (HP:0008800)1.61625182

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.10243965
2PDGFRA4.23198606
3TTN4.00979912
4TRIB33.95284046
5LATS23.94162405
6ERN13.28340478
7LATS13.24193895
8PKN23.01481767
9EPHB22.75450449
10RIPK12.51815656
11EPHA32.44537117
12SIK12.32005898
13PAK22.10823100
14PAK32.03342037
15MYLK1.85222580
16BMX1.74848690
17PTK21.72083827
18STK38L1.69753587
19TRPM71.62377205
20PIK3CG1.58265426
21DMPK1.53399061
22FER1.52761057
23PTK2B1.41058589
24PDGFRB1.37719282
25KIT1.35903362
26STK31.34166524
27PIM21.27389622
28TGFBR21.26953008
29PIK3CA1.26581902
30PAK41.25896264
31ROCK11.22469443
32PTK61.17131058
33NTRK11.15523790
34FGFR11.11016928
35AKT31.04892544
36NEK91.02289091
37ILK1.02263153
38MET1.01861058
39MTOR1.01456056
40FRK0.96337614
41LRRK20.94688764
42CDC42BPA0.94588335
43PRKD20.94119442
44PRKCH0.92927410
45PLK20.92705920
46ABL20.89794489
47MUSK0.89434744
48MAP3K60.86419699
49DAPK30.83070101
50INSR0.78796408
51ROCK20.73128992
52MAPKAPK30.73093294
53RPS6KA40.73059019
54FLT30.72206852
55MAP3K30.70304734
56TESK10.69095063
57MAP3K100.68583410
58JAK10.67602982
59MOS0.67101635
60MELK0.65673227
61PRKD10.65075943
62NUAK10.64774460
63GSK3A0.64679680
64ERBB30.62694493
65CAMKK10.60701454
66PRKD30.59694382
67ADRBK10.59557468
68RET0.57465734
69CAMK1D0.57050053
70STK380.54125902
71CAMK2G0.53850481
72STK240.52310555
73FGFR20.51542953
74LMTK20.50807519
75MAP2K10.50546002
76PAK10.50281153
77EPHB10.50059739
78PRKG20.49883464
79PRPF4B0.49285693
80SRC0.49258160
81WNK40.48974929
82CAMK1G0.46364894
83MAP2K30.46150882
84LIMK10.46091720
85EEF2K0.43887092
86MAPKAPK50.42188430
87RPS6KC10.41139860
88RPS6KL10.41139860
89PRKCE0.41062842
90CAMK10.40964076
91TAOK20.40530183
92MARK10.40297665
93CAMK2D0.39151041
94CDK60.38932921
95CAMK2B0.37049771
96RPS6KA60.35568903
97JAK30.34961634
98MAPK10.34725516
99WNK10.34311019
100MARK20.33199796
101ZAK0.31666702
102FYN0.28714254
103ICK0.28086890
104MAP3K70.28086095
105ABL10.27988575
106ZAP700.27914109
107FGFR40.27452458
108EPHA20.27109154
109GRK70.26848341
110TGFBR10.26759084
111MAPK120.26520058
112ERBB40.26452738
113PAK60.25552248
114DYRK1B0.24757725
115IGF1R0.24718968
116MAPK40.23421006
117RPS6KA20.22812144
118CDK80.22247784
119IKBKB0.21117275
120SCYL20.20708211
121MAPKAPK20.20342280
122TAOK10.20174178
123CDK140.20003636
124HCK0.17883332
125CDK150.17465448
126MAPK70.14183552
127CDK180.13594847
128CLK10.11955427
129CDK11A0.11602546

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045124.99622028
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.45237207
3* Focal adhesion_Homo sapiens_hsa045103.35398823
4Protein digestion and absorption_Homo sapiens_hsa049743.13310754
5Malaria_Homo sapiens_hsa051443.13011164
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.63907585
7Amoebiasis_Homo sapiens_hsa051462.59468016
8Bladder cancer_Homo sapiens_hsa052192.47559821
9Proteoglycans in cancer_Homo sapiens_hsa052052.37658737
10TGF-beta signaling pathway_Homo sapiens_hsa043502.24678682
11Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.17665396
12* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.03760040
13* Dilated cardiomyopathy_Homo sapiens_hsa054141.97880809
14Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.94044774
15Hippo signaling pathway_Homo sapiens_hsa043901.89268915
16* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.82209579
17Basal cell carcinoma_Homo sapiens_hsa052171.78465433
18Adherens junction_Homo sapiens_hsa045201.77970669
19* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.77888543
20MicroRNAs in cancer_Homo sapiens_hsa052061.74489010
21Melanoma_Homo sapiens_hsa052181.54306746
22Chronic myeloid leukemia_Homo sapiens_hsa052201.53537751
23Small cell lung cancer_Homo sapiens_hsa052221.51533053
24p53 signaling pathway_Homo sapiens_hsa041151.49586374
25* Regulation of actin cytoskeleton_Homo sapiens_hsa048101.42361846
26Hedgehog signaling pathway_Homo sapiens_hsa043401.39808437
27Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.31836751
28Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.18725487
29Wnt signaling pathway_Homo sapiens_hsa043101.17693399
30Glioma_Homo sapiens_hsa052141.17163058
31Phagosome_Homo sapiens_hsa041451.16242748
32Leukocyte transendothelial migration_Homo sapiens_hsa046701.14596346
33Platelet activation_Homo sapiens_hsa046111.14233170
34Pancreatic cancer_Homo sapiens_hsa052121.12142035
35Other glycan degradation_Homo sapiens_hsa005111.10541844
36Pathways in cancer_Homo sapiens_hsa052001.09658486
37Rap1 signaling pathway_Homo sapiens_hsa040151.09116844
38Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.06958181
39Melanogenesis_Homo sapiens_hsa049161.05551943
40Axon guidance_Homo sapiens_hsa043601.04544571
41Prostate cancer_Homo sapiens_hsa052151.04473999
42Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.03623577
43Shigellosis_Homo sapiens_hsa051311.00260964
44TNF signaling pathway_Homo sapiens_hsa046680.96149990
45HTLV-I infection_Homo sapiens_hsa051660.91224909
46Toxoplasmosis_Homo sapiens_hsa051450.84915096
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.80364215
48Dorso-ventral axis formation_Homo sapiens_hsa043200.79072006
49Tight junction_Homo sapiens_hsa045300.78476151
50Renal cell carcinoma_Homo sapiens_hsa052110.77920968
51Glycosaminoglycan degradation_Homo sapiens_hsa005310.75500095
52Estrogen signaling pathway_Homo sapiens_hsa049150.74392412
53Viral myocarditis_Homo sapiens_hsa054160.73559679
54GnRH signaling pathway_Homo sapiens_hsa049120.73017894
55Colorectal cancer_Homo sapiens_hsa052100.72304004
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.72266536
57HIF-1 signaling pathway_Homo sapiens_hsa040660.71310045
58Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70279195
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.70270409
60Gap junction_Homo sapiens_hsa045400.70182155
61Ras signaling pathway_Homo sapiens_hsa040140.67171702
62Hepatitis B_Homo sapiens_hsa051610.66884477
63Ovarian steroidogenesis_Homo sapiens_hsa049130.64865149
64Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.64441538
65Leishmaniasis_Homo sapiens_hsa051400.63765679
66Central carbon metabolism in cancer_Homo sapiens_hsa052300.63730177
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.62361602
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62110242
69Salmonella infection_Homo sapiens_hsa051320.61119959
70Phospholipase D signaling pathway_Homo sapiens_hsa040720.60741971
71Renin secretion_Homo sapiens_hsa049240.59741820
72Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58761192
73FoxO signaling pathway_Homo sapiens_hsa040680.58551468
74Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56553097
75MAPK signaling pathway_Homo sapiens_hsa040100.55888421
76Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55859317
77Sphingolipid metabolism_Homo sapiens_hsa006000.54485716
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53285424
79Apoptosis_Homo sapiens_hsa042100.52436734
80Calcium signaling pathway_Homo sapiens_hsa040200.51377365
81Vibrio cholerae infection_Homo sapiens_hsa051100.51136470
82Rheumatoid arthritis_Homo sapiens_hsa053230.50959988
83Thyroid hormone synthesis_Homo sapiens_hsa049180.50743178
84Neurotrophin signaling pathway_Homo sapiens_hsa047220.48650790
85Endocytosis_Homo sapiens_hsa041440.45758540
86N-Glycan biosynthesis_Homo sapiens_hsa005100.45024746
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.44617823
88ErbB signaling pathway_Homo sapiens_hsa040120.43944663
89cAMP signaling pathway_Homo sapiens_hsa040240.43804464
90Endometrial cancer_Homo sapiens_hsa052130.41832067
91Insulin resistance_Homo sapiens_hsa049310.41385368
92Tuberculosis_Homo sapiens_hsa051520.41347891
93Insulin secretion_Homo sapiens_hsa049110.40794110
94Osteoclast differentiation_Homo sapiens_hsa043800.40435078
95Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.40279333
96Cholinergic synapse_Homo sapiens_hsa047250.40166464
97mTOR signaling pathway_Homo sapiens_hsa041500.40123116
98Notch signaling pathway_Homo sapiens_hsa043300.39662274
99Viral carcinogenesis_Homo sapiens_hsa052030.38053642
100Lysine degradation_Homo sapiens_hsa003100.36660295
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.36333381
102Complement and coagulation cascades_Homo sapiens_hsa046100.36111488
103Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36043246
104Sulfur metabolism_Homo sapiens_hsa009200.35842288
105Oxytocin signaling pathway_Homo sapiens_hsa049210.35680393
106Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34485808
107Cocaine addiction_Homo sapiens_hsa050300.34054997
108Lysosome_Homo sapiens_hsa041420.33938282
109Circadian rhythm_Homo sapiens_hsa047100.33737334
110Gastric acid secretion_Homo sapiens_hsa049710.33661310
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32813615
112Renin-angiotensin system_Homo sapiens_hsa046140.32486470
113SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31913361
114Choline metabolism in cancer_Homo sapiens_hsa052310.30858234
115Prion diseases_Homo sapiens_hsa050200.30822667
116AMPK signaling pathway_Homo sapiens_hsa041520.30646996
117Adipocytokine signaling pathway_Homo sapiens_hsa049200.30412967
118Pertussis_Homo sapiens_hsa051330.28343339
119VEGF signaling pathway_Homo sapiens_hsa043700.28095228

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