ZNF469

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 zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)5.95671552
2collagen fibril organization (GO:0030199)5.55014918
3skin morphogenesis (GO:0043589)5.17310905
4endodermal cell differentiation (GO:0035987)4.72178498
5basement membrane organization (GO:0071711)4.03916133
6cell migration involved in heart development (GO:0060973)4.01411863
7collagen metabolic process (GO:0032963)3.94569636
8bone trabecula formation (GO:0060346)3.93296732
9collagen catabolic process (GO:0030574)3.86780356
10cell adhesion mediated by integrin (GO:0033627)3.68917321
11dermatan sulfate metabolic process (GO:0030205)3.67120700
12chondrocyte proliferation (GO:0035988)3.65004690
13chondroitin sulfate biosynthetic process (GO:0030206)3.64806738
14multicellular organismal macromolecule metabolic process (GO:0044259)3.61572210
15kidney mesenchyme development (GO:0072074)3.61022253
16extracellular matrix assembly (GO:0085029)3.58817718
17cell-substrate junction assembly (GO:0007044)3.58278079
18dermatan sulfate biosynthetic process (GO:0030208)3.58268986
19stress fiber assembly (GO:0043149)3.53967601
20positive regulation of blood vessel endothelial cell migration (GO:0043536)3.52820349
21wound healing, spreading of epidermal cells (GO:0035313)3.51884310
22multicellular organismal catabolic process (GO:0044243)3.50847814
23substrate-dependent cell migration (GO:0006929)3.50506701
24extracellular fibril organization (GO:0043206)3.49962688
25extracellular matrix disassembly (GO:0022617)3.45635147
26regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.43961092
27multicellular organismal metabolic process (GO:0044236)3.38774025
28vascular endothelial growth factor signaling pathway (GO:0038084)3.34629309
29negative regulation of smooth muscle cell migration (GO:0014912)3.29408957
30sequestering of extracellular ligand from receptor (GO:0035581)3.29056507
31tooth mineralization (GO:0034505)3.25982732
32negative regulation of fatty acid transport (GO:2000192)3.22087588
33fibril organization (GO:0097435)3.19866422
34barbed-end actin filament capping (GO:0051016)3.19247331
35adherens junction assembly (GO:0034333)3.18652265
36endocardial cushion development (GO:0003197)3.17066233
37positive regulation of osteoblast proliferation (GO:0033690)3.15569601
38chondrocyte development (GO:0002063)3.13288665
39metanephric mesenchyme development (GO:0072075)3.13087132
40negative regulation of chondrocyte differentiation (GO:0032331)3.11515752
41type B pancreatic cell proliferation (GO:0044342)3.11141357
42hypotonic response (GO:0006971)3.10188917
43positive regulation of endothelial cell apoptotic process (GO:2000353)3.07505650
44cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.06605999
45protein localization to endosome (GO:0036010)3.04837285
46focal adhesion assembly (GO:0048041)3.03149933
47cell-substrate adherens junction assembly (GO:0007045)3.03149933
48atrioventricular valve morphogenesis (GO:0003181)3.02699872
49vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.02142804
50planar cell polarity pathway involved in neural tube closure (GO:0090179)3.01773522
51hemidesmosome assembly (GO:0031581)3.01449122
52wound healing, spreading of cells (GO:0044319)3.00847864
53virion attachment to host cell (GO:0019062)2.90382851
54adhesion of symbiont to host cell (GO:0044650)2.90382851
55Golgi transport vesicle coating (GO:0048200)2.89491170
56COPI coating of Golgi vesicle (GO:0048205)2.89491170
57mesodermal cell differentiation (GO:0048333)2.89385675
58extracellular matrix organization (GO:0030198)2.87340917
59extracellular structure organization (GO:0043062)2.86201160
60apoptotic cell clearance (GO:0043277)2.83890717
61adhesion of symbiont to host (GO:0044406)2.83863493
62regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.83054759
63positive regulation of receptor recycling (GO:0001921)2.82702613
64glomerular basement membrane development (GO:0032836)2.79008387
65substrate adhesion-dependent cell spreading (GO:0034446)2.77610327
66venous blood vessel morphogenesis (GO:0048845)2.77174777
67positive regulation of fibroblast migration (GO:0010763)2.75272670
68regulation of extracellular matrix disassembly (GO:0010715)2.74269944
69endothelial cell morphogenesis (GO:0001886)2.72267616
70semaphorin-plexin signaling pathway (GO:0071526)2.72027122
71protein retention in ER lumen (GO:0006621)2.71845530
72keratan sulfate catabolic process (GO:0042340)2.71377197
73positive regulation of extracellular matrix organization (GO:1903055)2.70925746
74cortical actin cytoskeleton organization (GO:0030866)2.69509139
75positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.68493262
76heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.67714384
77positive regulation of epithelial to mesenchymal transition (GO:0010718)2.66898702
78dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.63872069
79glial cell migration (GO:0008347)2.61542281
80regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.61385472
81chondroitin sulfate catabolic process (GO:0030207)2.60751434
82retina vasculature morphogenesis in camera-type eye (GO:0061299)2.59943268
83maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.56919576
84cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.55671975
85actin filament depolymerization (GO:0030042)2.54306209
86phagocytosis, recognition (GO:0006910)2.52791837
87mannose metabolic process (GO:0006013)2.51105392
88cortical cytoskeleton organization (GO:0030865)2.48955686
89regulation of smooth muscle cell migration (GO:0014910)2.48759867
90proteoglycan biosynthetic process (GO:0030166)2.47709875
91regulation of early endosome to late endosome transport (GO:2000641)2.46880659
92regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.46699303
93response to fluid shear stress (GO:0034405)2.46636830
94regulation of osteoblast proliferation (GO:0033688)2.46213531
95positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.45429615
96positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.44590771
97regulation of collagen metabolic process (GO:0010712)2.44500969
98chondroitin sulfate metabolic process (GO:0030204)2.42427754
99proteoglycan metabolic process (GO:0006029)2.42237419
100cytoskeletal anchoring at plasma membrane (GO:0007016)2.42141946

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.10548854
2RARG_19884340_ChIP-ChIP_MEFs_Mouse3.92239725
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.74290705
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.51020145
5TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.70916823
6ELK3_25401928_ChIP-Seq_HUVEC_Human2.63701397
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.61909820
8RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.57230287
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.56176685
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.36170388
11KDM2B_26808549_Chip-Seq_SUP-B15_Human2.21332841
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.10099432
13LXR_22292898_ChIP-Seq_THP-1_Human2.10083728
14ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.98095144
15EGR1_19374776_ChIP-ChIP_THP-1_Human1.92674181
16CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.90738992
17WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.88513044
18CLOCK_20551151_ChIP-Seq_293T_Human1.85547851
19TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.84385250
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84241707
21* BRD4_25478319_ChIP-Seq_HGPS_Human1.81488052
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.80019528
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.76541040
24EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.74021200
25STAT6_21828071_ChIP-Seq_BEAS2B_Human1.72698975
26TP53_22127205_ChIP-Seq_IMR90_Human1.71690501
27GATA2_21666600_ChIP-Seq_HMVEC_Human1.71136572
28* KDM2B_26808549_Chip-Seq_K562_Human1.70714644
29KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.64515133
30P300_27058665_Chip-Seq_ZR-75-30cells_Human1.62694222
31RACK7_27058665_Chip-Seq_MCF-7_Human1.60167047
32SMC1_22415368_ChIP-Seq_MEFs_Mouse1.56262623
33SOX9_24532713_ChIP-Seq_HFSC_Mouse1.51649046
34* KDM2B_26808549_Chip-Seq_DND41_Human1.51319607
35* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48601806
36CJUN_26792858_Chip-Seq_BT549_Human1.46388759
37SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.45049329
38NFIB_24661679_ChIP-Seq_LUNG_Mouse1.42855712
39VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.41898396
40HIF1A_21447827_ChIP-Seq_MCF-7_Human1.40711468
41KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.40665149
42UBF1/2_26484160_Chip-Seq_HMECs_Human1.39924474
43RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.38876991
44EP300_21415370_ChIP-Seq_HL-1_Mouse1.38255320
45TCF7_22412390_ChIP-Seq_EML_Mouse1.37860901
46TP53_23651856_ChIP-Seq_MEFs_Mouse1.37365873
47SMC3_22415368_ChIP-Seq_MEFs_Mouse1.34682240
48VDR_21846776_ChIP-Seq_THP-1_Human1.34609613
49WT1_19549856_ChIP-ChIP_CCG9911_Human1.34443447
50SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.31936825
51SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.31936825
52DROSHA_22980978_ChIP-Seq_HELA_Human1.30921247
53KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.29568747
54TBX20_22328084_ChIP-Seq_HEART_Mouse1.29085017
55TBX20_22080862_ChIP-Seq_HEART_Mouse1.29085017
56KDM2B_26808549_Chip-Seq_JURKAT_Human1.27657999
57ZFP281_27345836_Chip-Seq_ESCs_Mouse1.27609331
58EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25152738
59CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.22797744
60TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.19386552
61VDR_24763502_ChIP-Seq_THP-1_Human1.17621024
62JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17517243
63Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.16901613
64ZFP281_18757296_ChIP-ChIP_E14_Mouse1.15043658
65ESR1_21235772_ChIP-Seq_MCF-7_Human1.14876787
66DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.13729648
67SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.13143060
68SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11578374
69PPAR_26484153_Chip-Seq_NCI-H1993_Human1.11412682
70JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11368882
71SA1_22415368_ChIP-Seq_MEFs_Mouse1.10075843
72ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08948517
73MYB_21317192_ChIP-Seq_ERMYB_Mouse1.07784087
74P63_26484246_Chip-Seq_KERATINOCYTES_Human1.07267061
75SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.07054309
76NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06943629
77TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06879750
78RNF2_18974828_ChIP-Seq_MESCs_Mouse1.06416703
79EZH2_18974828_ChIP-Seq_MESCs_Mouse1.06416703
80ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.05607167
81ERG_21242973_ChIP-ChIP_JURKAT_Human1.04264417
82TET1_21490601_ChIP-Seq_MESCs_Mouse1.04217972
83BRD4_27068464_Chip-Seq_AML-cells_Mouse1.00960409
84KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.00319225
85ATF3_27146783_Chip-Seq_COLON_Human1.00145524
86NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.98330235
87MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98235317
88FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97720812
89MTF2_20144788_ChIP-Seq_MESCs_Mouse0.96473968
90CTCF_27219007_Chip-Seq_ERYTHROID_Human0.96332017
91TP53_20018659_ChIP-ChIP_R1E_Mouse0.95154778
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.94795088
93NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.94795088
94ZNF263_19887448_ChIP-Seq_K562_Human0.94208591
95FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.93457576
96TP53_16413492_ChIP-PET_HCT116_Human0.92458113
97RUNX1_27514584_Chip-Seq_MCF-7_Human0.92424916
98EED_16625203_ChIP-ChIP_MESCs_Mouse0.91903012
99SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.91827139
100NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.91598649

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.25461535
2MP0003705_abnormal_hypodermis_morpholog4.83639218
3MP0003279_aneurysm4.57518784
4MP0005275_abnormal_skin_tensile3.92942103
5MP0001958_emphysema3.86476076
6MP0005503_abnormal_tendon_morphology3.78382806
7MP0004272_abnormal_basement_membrane3.39049703
8MP0005257_abnormal_intraocular_pressure3.18112711
9MP0003566_abnormal_cell_adhesion2.98168638
10MP0005623_abnormal_meninges_morphology2.50965226
11MP0003091_abnormal_cell_migration2.41366774
12MP0006054_spinal_hemorrhage2.28971101
13MP0001542_abnormal_bone_strength2.28068262
14MP0000767_abnormal_smooth_muscle2.23394742
15MP0009384_cardiac_valve_regurgitation2.22465904
16MP0010368_abnormal_lymphatic_system2.13220553
17MP0002060_abnormal_skin_morphology1.99650311
18MP0005023_abnormal_wound_healing1.88289055
19MP0000013_abnormal_adipose_tissue1.85031686
20MP0005508_abnormal_skeleton_morphology1.78312146
21MP0000751_myopathy1.78084577
22MP0003300_gastrointestinal_ulcer1.53079034
23MP0001849_ear_inflammation1.45789033
24MP0002896_abnormal_bone_mineralization1.42182146
25MP0001243_abnormal_dermal_layer1.38426048
26MP0005595_abnormal_vascular_smooth1.38300452
27MP0002295_abnormal_pulmonary_circulatio1.35043276
28MP0002108_abnormal_muscle_morphology1.33530528
29MP0010030_abnormal_orbit_morphology1.30366555
30MP0002254_reproductive_system_inflammat1.29923120
31MP0005390_skeleton_phenotype1.29178176
32MP0000733_abnormal_muscle_development1.28090561
33MP0004858_abnormal_nervous_system1.27636592
34MP0001348_abnormal_lacrimal_gland1.25827828
35MP0003950_abnormal_plasma_membrane1.24138704
36MP0004134_abnormal_chest_morphology1.23239154
37MP0002877_abnormal_melanocyte_morpholog1.23070636
38MP0010352_gastrointestinal_tract_polyps1.19830379
39MP0005164_abnormal_response_to1.18938444
40MP0005076_abnormal_cell_differentiation1.17665948
41MP0002998_abnormal_bone_remodeling1.14376205
42MP0005058_abnormal_lysosome_morphology1.14280366
43MP0009250_abnormal_appendicular_skeleto1.13246921
44MP0003828_pulmonary_edema1.11304801
45MP0003448_altered_tumor_morphology1.09017409
46MP0001915_intracranial_hemorrhage1.07891997
47MP0002933_joint_inflammation1.06968388
48MP0003172_abnormal_lysosome_physiology1.03900923
49MP0003436_decreased_susceptibility_to1.02186232
50MP0001533_abnormal_skeleton_physiology1.01572329
51MP0000003_abnormal_adipose_tissue1.00971941
52MP0009840_abnormal_foam_cell0.97995973
53MP0001299_abnormal_eye_distance/0.96910268
54MP0004883_abnormal_blood_vessel0.96066637
55MP0005409_darkened_coat_color0.93661593
56MP0000462_abnormal_digestive_system0.90508082
57MP0002128_abnormal_blood_circulation0.89576598
58MP0000759_abnormal_skeletal_muscle0.88158280
59MP0000858_altered_metastatic_potential0.87412950
60MP0000534_abnormal_ureter_morphology0.86480373
61MP0001879_abnormal_lymphatic_vessel0.85357619
62MP0001614_abnormal_blood_vessel0.85058795
63MP0003385_abnormal_body_wall0.84535705
64MP0008004_abnormal_stomach_pH0.84413482
65MP0000762_abnormal_tongue_morphology0.82764513
66MP0002113_abnormal_skeleton_development0.80785959
67MP0003795_abnormal_bone_structure0.79370264
68MP0003045_fibrosis0.77884875
69MP0009780_abnormal_chondrocyte_physiolo0.77170720
70MP0003191_abnormal_cellular_cholesterol0.76765798
71MP0000163_abnormal_cartilage_morphology0.76556167
72MP0004510_myositis0.76432815
73MP0002115_abnormal_skeleton_extremities0.76077892
74MP0000343_altered_response_to0.72434744
75MP0005171_absent_coat_pigmentation0.72316576
76MP0005388_respiratory_system_phenotype0.72190119
77MP0002133_abnormal_respiratory_system0.72190119
78MP0000432_abnormal_head_morphology0.71959821
79MP0000249_abnormal_blood_vessel0.71529926
80MP0002932_abnormal_joint_morphology0.71359275
81MP0002168_other_aberrant_phenotype0.71331158
82MP0000749_muscle_degeneration0.71026252
83MP0000750_abnormal_muscle_regeneration0.69582333
84MP0005621_abnormal_cell_physiology0.68720268
85MP0009278_abnormal_bone_marrow0.68588012
86MP0003942_abnormal_urinary_system0.68393188
87MP0003453_abnormal_keratinocyte_physiol0.68264369
88MP0002282_abnormal_trachea_morphology0.67996959
89MP0003283_abnormal_digestive_organ0.67625677
90MP0002925_abnormal_cardiovascular_devel0.67344422
91MP0000428_abnormal_craniofacial_morphol0.67030592
92MP0005165_increased_susceptibility_to0.65200654
93MP0001175_abnormal_lung_morphology0.64902786
94MP0009053_abnormal_anal_canal0.64561378
95MP0005197_abnormal_uvea_morphology0.61267210
96MP0004808_abnormal_hematopoietic_stem0.60442341
97MP0004087_abnormal_muscle_fiber0.60338897
98MP0000538_abnormal_urinary_bladder0.59546684
99MP0010386_abnormal_urinary_bladder0.58712570
100MP0004947_skin_inflammation0.57891508

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)8.26972157
2Protrusio acetabuli (HP:0003179)6.56150583
3Aortic dissection (HP:0002647)5.42796269
4Aortic aneurysm (HP:0004942)4.64247368
5Soft skin (HP:0000977)4.36265575
6Fragile skin (HP:0001030)4.35865416
7Ankle contracture (HP:0006466)4.26745524
8Atrophic scars (HP:0001075)4.26151912
9Type 1 muscle fiber predominance (HP:0003803)4.23023752
10Bladder diverticulum (HP:0000015)4.07414876
11Follicular hyperkeratosis (HP:0007502)4.00439166
12Vascular tortuosity (HP:0004948)3.94182649
13Cerebral aneurysm (HP:0004944)3.80932010
14Genu recurvatum (HP:0002816)3.76051963
15Peritonitis (HP:0002586)3.72893803
16Arterial tortuosity (HP:0005116)3.69935112
17Spinal rigidity (HP:0003306)3.50671487
18Slender build (HP:0001533)3.45864284
19Dilatation of the ascending aorta (HP:0005111)3.36283048
20Neonatal short-limb short stature (HP:0008921)3.31857083
21Shallow orbits (HP:0000586)3.27155860
22* Abnormality of dentin (HP:0010299)3.27089418
23* Blue sclerae (HP:0000592)3.21889986
24Wormian bones (HP:0002645)3.17952668
25* Mitral valve prolapse (HP:0001634)3.04169903
26Broad metatarsal (HP:0001783)3.04011107
27Increased variability in muscle fiber diameter (HP:0003557)3.00810120
28Cervical subluxation (HP:0003308)2.99608119
29Aortic regurgitation (HP:0001659)2.94529655
30Mildly elevated creatine phosphokinase (HP:0008180)2.94029717
31Bowel diverticulosis (HP:0005222)2.92411130
32Biconcave vertebral bodies (HP:0004586)2.89055836
33* Joint laxity (HP:0001388)2.87152088
34Mitral regurgitation (HP:0001653)2.71824633
35* Spondylolisthesis (HP:0003302)2.62316665
36Hyperextensible skin (HP:0000974)2.60831150
37Aneurysm (HP:0002617)2.59440840
38Abnormality of skeletal muscle fiber size (HP:0012084)2.58045939
39Increased connective tissue (HP:0009025)2.57605935
40Round ear (HP:0100830)2.57067111
41Ulnar bowing (HP:0003031)2.50110877
42Wide anterior fontanel (HP:0000260)2.45689279
43Overgrowth (HP:0001548)2.45345649
44Hypoventilation (HP:0002791)2.39781612
45Elbow flexion contracture (HP:0002987)2.38127221
46Obstructive sleep apnea (HP:0002870)2.35274283
47Abnormal delivery (HP:0001787)2.34030306
48Vertebral compression fractures (HP:0002953)2.33085053
49Joint stiffness (HP:0001387)2.31254130
50Broad face (HP:0000283)2.28917183
51Ectopia lentis (HP:0001083)2.25722118
52Hyperacusis (HP:0010780)2.24623769
53Mild short stature (HP:0003502)2.23254404
54Distal upper limb amyotrophy (HP:0007149)2.21933665
55Upper limb amyotrophy (HP:0009129)2.21933665
56Thin bony cortex (HP:0002753)2.20643485
57Generalized amyotrophy (HP:0003700)2.15255762
58Aortic valve stenosis (HP:0001650)2.13378689
59Distal lower limb amyotrophy (HP:0008944)2.12871686
60Wrist flexion contracture (HP:0001239)2.09795422
61* Disproportionate tall stature (HP:0001519)2.08583757
62Infantile muscular hypotonia (HP:0008947)2.07025079
63Abnormality of the acetabulum (HP:0003170)2.06793202
64Short nail (HP:0001799)2.06032805
65Achilles tendon contracture (HP:0001771)2.05182066
66Osteolytic defects of the hand bones (HP:0009699)2.04141268
67Osteolytic defects of the phalanges of the hand (HP:0009771)2.04141268
68Long toe (HP:0010511)2.02377229
69Nonimmune hydrops fetalis (HP:0001790)2.01899702
70Mesomelia (HP:0003027)2.01223925
71Mitral stenosis (HP:0001718)2.00263301
72Inguinal hernia (HP:0000023)1.93158307
73Venous abnormality (HP:0002624)1.91467952
74Renal duplication (HP:0000075)1.91104618
75Protruding ear (HP:0000411)1.86715262
76Osteoarthritis (HP:0002758)1.86644363
77Camptodactyly of toe (HP:0001836)1.86232892
78Venous insufficiency (HP:0005293)1.85645447
79Natal tooth (HP:0000695)1.83928303
80Tibial bowing (HP:0002982)1.82708263
81Absent frontal sinuses (HP:0002688)1.81360764
82Pulmonary artery stenosis (HP:0004415)1.81359255
83Breech presentation (HP:0001623)1.74972438
84Abnormality of the Achilles tendon (HP:0005109)1.74230646
85Hallux valgus (HP:0001822)1.72917046
86Flat cornea (HP:0007720)1.72763828
87Femoral bowing (HP:0002980)1.71811838
88Long eyelashes (HP:0000527)1.71248686
89Hypoplasia of the iris (HP:0007676)1.70482687
90Deviation of the hallux (HP:0010051)1.69416969
91Bowing of the arm (HP:0006488)1.68197186
92Bowed forearm bones (HP:0003956)1.68197186
93Broad long bones (HP:0005622)1.67901030
94Arachnodactyly (HP:0001166)1.66700352
95Broad ribs (HP:0000885)1.66201418
96Joint contractures involving the joints of the feet (HP:0100492)1.65670306
97Flexion contracture of toe (HP:0005830)1.65670306
98Thoracolumbar scoliosis (HP:0002944)1.65472553
99Ulnar deviation of the wrist (HP:0003049)1.65062227
100Morphological abnormality of the middle ear (HP:0008609)1.64936989

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN3.40816117
2MYLK3.39493012
3PDGFRA3.35040545
4TRIB33.32889002
5DDR23.17444836
6ERN12.93265539
7SIK12.66819722
8RIPK12.33231320
9TGFBR22.19843232
10PTK22.16775655
11CDC42BPA2.16746663
12TESK11.97968341
13PRKD21.95720588
14PAK21.87012539
15PRPF4B1.85907898
16IRAK31.78348244
17CDK121.73099695
18ICK1.68937355
19PIK3CG1.63519838
20NTRK11.59297644
21EPHB21.47422079
22PKN21.44421263
23LATS21.42308762
24NEK91.36895250
25KIT1.35903382
26EPHB11.33669690
27PDGFRB1.33152538
28PAK41.29386295
29MST1R1.25850296
30MET1.24434437
31TRPM71.24371722
32SMG11.23168201
33LIMK11.21097618
34MTOR1.19094941
35RPS6KA21.18015996
36EPHA21.17697591
37STK381.16400210
38MAP3K131.15624646
39TAOK21.14319316
40MAP3K31.12803964
41LMTK21.12116233
42MAP2K31.08813205
43MAP3K71.03881746
44MAP3K61.02653857
45GRK71.01200995
46PRKG21.00970654
47JAK10.97789565
48MARK20.96302496
49DMPK0.94807011
50ROCK10.91917212
51FLT30.91077481
52MAPK70.90716138
53PTK2B0.90417745
54MAP3K140.89487036
55EEF2K0.88858008
56MOS0.84140359
57JAK30.83503636
58LATS10.83434844
59ZAP700.82835589
60TBK10.76988768
61ROCK20.75094066
62FGFR40.74144503
63ABL20.72284092
64ILK0.69237629
65DAPK30.67439562
66CHUK0.66740512
67PTK60.66503632
68RPS6KC10.64275911
69RPS6KL10.64275911
70PRKD30.63359211
71WNK10.61430218
72CSF1R0.60607811
73TYK20.60235875
74BMX0.59913447
75MELK0.57302290
76AKT30.54999543
77PIM20.54579988
78PDPK10.53768602
79PRKD10.51975820
80MUSK0.50603456
81HIPK20.49622492
82CAMK1G0.48293318
83MAP3K100.48277055
84ADRBK10.47823762
85RPS6KA60.47693050
86GSK3A0.44835071
87MAP3K10.44020264
88CAMK1D0.41211956
89TIE10.41095749
90TAOK10.40287876
91MAP2K10.40083903
92PRKCH0.39328476
93MAPK120.38971104
94MAPKAPK20.37841836
95MAPK150.36393412
96CDK90.35467758
97MAPK40.35330776
98ARAF0.34854190
99CAMK2G0.33934204
100PAK10.33528864

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.89114792
2ECM-receptor interaction_Homo sapiens_hsa045123.28166432
3Focal adhesion_Homo sapiens_hsa045102.65874809
4Glycosaminoglycan degradation_Homo sapiens_hsa005312.05842799
5Amoebiasis_Homo sapiens_hsa051462.01930617
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.94652877
7Protein digestion and absorption_Homo sapiens_hsa049741.94594146
8Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.80173141
9Other glycan degradation_Homo sapiens_hsa005111.79994210
10Dilated cardiomyopathy_Homo sapiens_hsa054141.61103205
11Proteoglycans in cancer_Homo sapiens_hsa052051.61088959
12Regulation of actin cytoskeleton_Homo sapiens_hsa048101.53176319
13Chronic myeloid leukemia_Homo sapiens_hsa052201.52359806
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.51592218
15Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.50924094
16Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.49365196
17Bladder cancer_Homo sapiens_hsa052191.46115658
18Notch signaling pathway_Homo sapiens_hsa043301.45714103
19Small cell lung cancer_Homo sapiens_hsa052221.40230902
20Malaria_Homo sapiens_hsa051441.37851610
21Prion diseases_Homo sapiens_hsa050201.18524401
22Platelet activation_Homo sapiens_hsa046111.16391277
23MicroRNAs in cancer_Homo sapiens_hsa052061.15605338
24PI3K-Akt signaling pathway_Homo sapiens_hsa041511.14748998
25Adherens junction_Homo sapiens_hsa045201.14702290
26TNF signaling pathway_Homo sapiens_hsa046681.12930821
27Phospholipase D signaling pathway_Homo sapiens_hsa040721.12017139
28Acute myeloid leukemia_Homo sapiens_hsa052211.11328866
29Leukocyte transendothelial migration_Homo sapiens_hsa046701.09702337
30Pancreatic cancer_Homo sapiens_hsa052121.04643993
31Toxoplasmosis_Homo sapiens_hsa051451.03905632
32Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.03818530
33Osteoclast differentiation_Homo sapiens_hsa043801.02327373
34Neurotrophin signaling pathway_Homo sapiens_hsa047221.01084103
35Glioma_Homo sapiens_hsa052141.00482530
36Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.00225110
37Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96511750
38Pathways in cancer_Homo sapiens_hsa052000.95019512
39Lysosome_Homo sapiens_hsa041420.93826237
40Vascular smooth muscle contraction_Homo sapiens_hsa042700.93725568
41Central carbon metabolism in cancer_Homo sapiens_hsa052300.93313047
42Renal cell carcinoma_Homo sapiens_hsa052110.93206542
43Shigellosis_Homo sapiens_hsa051310.89584365
44Prostate cancer_Homo sapiens_hsa052150.89428631
45VEGF signaling pathway_Homo sapiens_hsa043700.89195275
46Thyroid hormone signaling pathway_Homo sapiens_hsa049190.89002274
47Melanoma_Homo sapiens_hsa052180.88867713
48Pertussis_Homo sapiens_hsa051330.88608058
49GnRH signaling pathway_Homo sapiens_hsa049120.88590629
50TGF-beta signaling pathway_Homo sapiens_hsa043500.88125079
51cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87660556
52Rap1 signaling pathway_Homo sapiens_hsa040150.87491941
53Hepatitis B_Homo sapiens_hsa051610.87458521
54Estrogen signaling pathway_Homo sapiens_hsa049150.87412228
55Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.87136909
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.85019296
57Melanogenesis_Homo sapiens_hsa049160.84369951
58mTOR signaling pathway_Homo sapiens_hsa041500.83033127
59Gap junction_Homo sapiens_hsa045400.78817689
60Dorso-ventral axis formation_Homo sapiens_hsa043200.78605754
61Hippo signaling pathway_Homo sapiens_hsa043900.77739450
62Endocytosis_Homo sapiens_hsa041440.77700089
63Toll-like receptor signaling pathway_Homo sapiens_hsa046200.77148384
64Salmonella infection_Homo sapiens_hsa051320.75079098
65Leishmaniasis_Homo sapiens_hsa051400.74105158
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.71562054
67Non-small cell lung cancer_Homo sapiens_hsa052230.70628868
68Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70426419
69Basal cell carcinoma_Homo sapiens_hsa052170.70265551
70Endometrial cancer_Homo sapiens_hsa052130.70223375
71Axon guidance_Homo sapiens_hsa043600.69332993
72MAPK signaling pathway_Homo sapiens_hsa040100.68767664
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.68051003
74Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.66894780
75Vibrio cholerae infection_Homo sapiens_hsa051100.66181341
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.64878858
77Phagosome_Homo sapiens_hsa041450.63653605
78Prolactin signaling pathway_Homo sapiens_hsa049170.63411456
79HTLV-I infection_Homo sapiens_hsa051660.62390979
80B cell receptor signaling pathway_Homo sapiens_hsa046620.61658830
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.60740629
82Hedgehog signaling pathway_Homo sapiens_hsa043400.60440255
83Choline metabolism in cancer_Homo sapiens_hsa052310.60406793
84Tuberculosis_Homo sapiens_hsa051520.59630419
85Influenza A_Homo sapiens_hsa051640.59112988
86ErbB signaling pathway_Homo sapiens_hsa040120.58512163
87Hepatitis C_Homo sapiens_hsa051600.58154884
88Oxytocin signaling pathway_Homo sapiens_hsa049210.58033012
89Insulin resistance_Homo sapiens_hsa049310.57442363
90Apoptosis_Homo sapiens_hsa042100.56159167
91Tight junction_Homo sapiens_hsa045300.55576072
92Phosphatidylinositol signaling system_Homo sapiens_hsa040700.54477010
93Complement and coagulation cascades_Homo sapiens_hsa046100.54165462
94Viral myocarditis_Homo sapiens_hsa054160.53185799
95Ras signaling pathway_Homo sapiens_hsa040140.53040277
96Colorectal cancer_Homo sapiens_hsa052100.52656541
97Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52237425
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52007078
99Inositol phosphate metabolism_Homo sapiens_hsa005620.50459502
100Thyroid cancer_Homo sapiens_hsa052160.50336330

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