KIAA1462

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 endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vascular endothelial growth factor signaling pathway (GO:0038084)4.47526838
2protein heterotrimerization (GO:0070208)4.27585141
3blood vessel maturation (GO:0001955)4.14465099
4retina vasculature morphogenesis in camera-type eye (GO:0061299)4.10131601
5lymphangiogenesis (GO:0001946)4.06599224
6collagen fibril organization (GO:0030199)4.00837906
7extracellular matrix assembly (GO:0085029)3.96386706
8cell migration involved in heart development (GO:0060973)3.93266681
9endodermal cell differentiation (GO:0035987)3.81919208
10chondrocyte proliferation (GO:0035988)3.78752669
11sequestering of extracellular ligand from receptor (GO:0035581)3.77044511
12endothelium development (GO:0003158)3.68618012
13extracellular fibril organization (GO:0043206)3.58238483
14cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.54629732
15basement membrane organization (GO:0071711)3.50797343
16substrate-dependent cell migration (GO:0006929)3.46774069
17peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.44019546
18kidney mesenchyme development (GO:0072074)3.37585125
19regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.26875510
20lymph vessel development (GO:0001945)3.25796413
21skin morphogenesis (GO:0043589)3.23944514
22endothelial cell morphogenesis (GO:0001886)3.19482792
23endocardial cushion development (GO:0003197)3.19182293
24metanephric mesenchyme development (GO:0072075)3.13873999
25cell adhesion mediated by integrin (GO:0033627)3.10669299
26vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.07162311
27wound healing, spreading of epidermal cells (GO:0035313)3.06989967
28fibril organization (GO:0097435)3.02629177
29cell migration involved in sprouting angiogenesis (GO:0002042)3.02466087
30collagen metabolic process (GO:0032963)2.95538496
31sprouting angiogenesis (GO:0002040)2.93264688
32smooth muscle tissue development (GO:0048745)2.93225282
33cell-substrate junction assembly (GO:0007044)2.89260620
34regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.86923796
35venous blood vessel morphogenesis (GO:0048845)2.84668492
36cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.83929097
37substrate adhesion-dependent cell spreading (GO:0034446)2.83908014
38barbed-end actin filament capping (GO:0051016)2.81248516
39adherens junction assembly (GO:0034333)2.79821680
40glomerular basement membrane development (GO:0032836)2.79120086
41type B pancreatic cell proliferation (GO:0044342)2.78829882
42keratan sulfate catabolic process (GO:0042340)2.77845770
43collagen catabolic process (GO:0030574)2.77583425
44adhesion of symbiont to host cell (GO:0044650)2.75736900
45virion attachment to host cell (GO:0019062)2.75736900
46neuron projection extension involved in neuron projection guidance (GO:1902284)2.74800568
47axon extension involved in axon guidance (GO:0048846)2.74800568
48multicellular organismal macromolecule metabolic process (GO:0044259)2.74349970
49stress fiber assembly (GO:0043149)2.72022066
50regulation of integrin-mediated signaling pathway (GO:2001044)2.71421622
51bone trabecula formation (GO:0060346)2.70300895
52positive regulation of fibroblast migration (GO:0010763)2.66745386
53regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.66412643
54cytoskeletal anchoring at plasma membrane (GO:0007016)2.66032417
55extracellular matrix disassembly (GO:0022617)2.65644577
56negative regulation of smooth muscle cell migration (GO:0014912)2.65541094
57atrioventricular valve morphogenesis (GO:0003181)2.65502746
58mesenchymal-epithelial cell signaling (GO:0060638)2.65056851
59negative regulation of chondrocyte differentiation (GO:0032331)2.64140351
60regulation of axon extension involved in axon guidance (GO:0048841)2.61921098
61positive regulation of endothelial cell apoptotic process (GO:2000353)2.61835613
62dermatan sulfate biosynthetic process (GO:0030208)2.61110111
63multicellular organismal metabolic process (GO:0044236)2.60806439
64positive regulation of receptor recycling (GO:0001921)2.60635966
65positive regulation of osteoblast proliferation (GO:0033690)2.60012203
66adhesion of symbiont to host (GO:0044406)2.59996665
67surfactant homeostasis (GO:0043129)2.58410350
68pericardium development (GO:0060039)2.56428842
69positive regulation of blood vessel endothelial cell migration (GO:0043536)2.55885017
70cardiac myofibril assembly (GO:0055003)2.55744666
71blood vessel endothelial cell migration (GO:0043534)2.55003182
72apoptotic cell clearance (GO:0043277)2.54330193
73cell-substrate adherens junction assembly (GO:0007045)2.54284772
74focal adhesion assembly (GO:0048041)2.54284772
75multicellular organismal catabolic process (GO:0044243)2.53286507
76extracellular matrix organization (GO:0030198)2.53092869
77endocrine hormone secretion (GO:0060986)2.53075827
78extracellular structure organization (GO:0043062)2.52111670
79artery development (GO:0060840)2.51688910
80protein localization to cell surface (GO:0034394)2.50362044
81dermatan sulfate metabolic process (GO:0030205)2.50303467
82regulation of transforming growth factor beta2 production (GO:0032909)2.48466933
83glomerular filtration (GO:0003094)2.46508422
84renal filtration (GO:0097205)2.46430511
85negative regulation of fatty acid transport (GO:2000192)2.46121631
86positive regulation of endothelial cell migration (GO:0010595)2.46120132
87mesodermal cell differentiation (GO:0048333)2.44272898
88regulation of glomerular filtration (GO:0003093)2.43382532
89endothelial cell proliferation (GO:0001935)2.39655332
90blood vessel morphogenesis (GO:0048514)2.39607275
91positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.39522361
92protein localization to endosome (GO:0036010)2.39439115
93positive regulation of astrocyte differentiation (GO:0048711)2.39435941
94artery morphogenesis (GO:0048844)2.37535505
95synaptic vesicle docking involved in exocytosis (GO:0016081)2.35286540
96negative regulation of BMP signaling pathway (GO:0030514)2.34953740
97negative regulation of axon extension involved in axon guidance (GO:0048843)2.33523049
98patterning of blood vessels (GO:0001569)2.33046193
99epithelial cell-cell adhesion (GO:0090136)2.31839010
100paraxial mesoderm development (GO:0048339)2.31403316

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.53155180
2PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.22715117
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.17161480
4ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.71393634
5SMAD_19615063_ChIP-ChIP_OVARY_Human2.52433023
6EP300_21415370_ChIP-Seq_HL-1_Mouse2.52300661
7* GATA2_21666600_ChIP-Seq_HMVEC_Human2.13630748
8EED_16625203_ChIP-ChIP_MESCs_Mouse2.12210535
9TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.09162319
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.07969422
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.07969422
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.04036170
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.03194377
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.01905618
15CDX2_19796622_ChIP-Seq_MESCs_Mouse1.98124599
16CJUN_26792858_Chip-Seq_BT549_Human1.95908860
17RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.90058486
18CLOCK_20551151_ChIP-Seq_293T_Human1.86874417
19SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.86330017
20WT1_19549856_ChIP-ChIP_CCG9911_Human1.83916343
21* BRD4_25478319_ChIP-Seq_HGPS_Human1.83825953
22* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.83124948
23CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.81376685
24EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.78136161
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.77024614
26NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.76986405
27SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.75392963
28MTF2_20144788_ChIP-Seq_MESCs_Mouse1.74579059
29WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.71008281
30CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.65343169
31JARID2_20075857_ChIP-Seq_MESCs_Mouse1.63826628
32NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.56147317
33NRF2_20460467_ChIP-Seq_MEFs_Mouse1.56147317
34TBX20_22080862_ChIP-Seq_HEART_Mouse1.54477088
35TBX20_22328084_ChIP-Seq_HEART_Mouse1.54477088
36RNF2_27304074_Chip-Seq_ESCs_Mouse1.53571162
37NFIB_24661679_ChIP-Seq_LUNG_Mouse1.52667977
38SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.48453354
39SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.47119859
40SOX9_24532713_ChIP-Seq_HFSC_Mouse1.46312077
41EZH2_27304074_Chip-Seq_ESCs_Mouse1.43340589
42JARID2_20064375_ChIP-Seq_MESCs_Mouse1.43217342
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.43005052
44ESR1_21235772_ChIP-Seq_MCF-7_Human1.41832396
45TP63_17297297_ChIP-ChIP_HaCaT_Human1.41589421
46PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41514949
47TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.40369727
48WT1_25993318_ChIP-Seq_PODOCYTE_Human1.36869226
49CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.36113607
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.36024559
51* TP53_18474530_ChIP-ChIP_U2OS_Human1.34153785
52TP53_16413492_ChIP-PET_HCT116_Human1.32351554
53ELK3_25401928_ChIP-Seq_HUVEC_Human1.31648250
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30958297
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.30917428
56NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.29385217
57CTNNB1_20460455_ChIP-Seq_HCT116_Human1.29291419
58PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26678139
59GBX2_23144817_ChIP-Seq_PC3_Human1.24287050
60PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.24278406
61SALL4_18804426_ChIP-ChIP_XEN_Mouse1.23813062
62AHR_22903824_ChIP-Seq_MCF-7_Human1.21565194
63TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.21190281
64ISL1_27105846_Chip-Seq_CPCs_Mouse1.19180906
65HIF1A_21447827_ChIP-Seq_MCF-7_Human1.19098371
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18456348
67SMC1_22415368_ChIP-Seq_MEFs_Mouse1.16912401
68EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15519614
69STAT6_21828071_ChIP-Seq_BEAS2B_Human1.15467687
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.12356296
71TP53_23651856_ChIP-Seq_MEFs_Mouse1.12187382
72DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.11857039
73TP53_20018659_ChIP-ChIP_R1E_Mouse1.11190504
74EZH2_27294783_Chip-Seq_ESCs_Mouse1.10957512
75DROSHA_22980978_ChIP-Seq_HELA_Human1.10870856
76NR3C1_23031785_ChIP-Seq_PC12_Mouse1.10480323
77KDM2B_26808549_Chip-Seq_K562_Human1.07743436
78P300_27058665_Chip-Seq_ZR-75-30cells_Human1.07702727
79JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.04699463
80MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.04100235
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.03925012
82SA1_22415368_ChIP-Seq_MEFs_Mouse1.02926009
83JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02678238
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.02493800
85SUZ12_27294783_Chip-Seq_ESCs_Mouse1.02153022
86SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.00792354
87SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.00792354
88SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00273846
89RING1B_27294783_Chip-Seq_ESCs_Mouse1.00184790
90MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.99820741
91* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98159075
92YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96577097
93RING1B_27294783_Chip-Seq_NPCs_Mouse0.96378680
94HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.95758057
95SMAD3_21741376_ChIP-Seq_HESCs_Human0.95019191
96ESR1_20079471_ChIP-ChIP_T-47D_Human0.90929793
97UBF1/2_26484160_Chip-Seq_HMECs_Human0.90736618
98ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89941481
99TET1_21490601_ChIP-Seq_MESCs_Mouse0.88623348
100AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88255628

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.83787606
2MP0010368_abnormal_lymphatic_system4.57268244
3MP0004272_abnormal_basement_membrane4.34267904
4MP0005275_abnormal_skin_tensile4.11413308
5MP0005503_abnormal_tendon_morphology3.98038207
6MP0003279_aneurysm3.86666039
7MP0003705_abnormal_hypodermis_morpholog3.74246662
8MP0001958_emphysema3.69654630
9MP0001879_abnormal_lymphatic_vessel2.64047901
10MP0000751_myopathy2.61397831
11MP0003566_abnormal_cell_adhesion2.45378054
12MP0005623_abnormal_meninges_morphology2.40266541
13MP0000767_abnormal_smooth_muscle2.30261293
14MP0000013_abnormal_adipose_tissue2.11411566
15MP0005257_abnormal_intraocular_pressure2.10258920
16MP0009384_cardiac_valve_regurgitation2.05955124
17MP0009780_abnormal_chondrocyte_physiolo1.97101820
18MP0003950_abnormal_plasma_membrane1.90878525
19MP0002295_abnormal_pulmonary_circulatio1.88596454
20MP0003091_abnormal_cell_migration1.88200007
21MP0006054_spinal_hemorrhage1.87739590
22MP0002108_abnormal_muscle_morphology1.76530789
23MP0005595_abnormal_vascular_smooth1.75341192
24MP0005508_abnormal_skeleton_morphology1.69428124
25MP0004084_abnormal_cardiac_muscle1.59545540
26MP0005023_abnormal_wound_healing1.58395664
27MP0001542_abnormal_bone_strength1.51439210
28MP0006138_congestive_heart_failure1.47780735
29MP0009250_abnormal_appendicular_skeleto1.37946163
30MP0003828_pulmonary_edema1.36883792
31MP0002896_abnormal_bone_mineralization1.35984878
32MP0003283_abnormal_digestive_organ1.33121438
33MP0004036_abnormal_muscle_relaxation1.32000883
34MP0001299_abnormal_eye_distance/1.29178804
35MP0010030_abnormal_orbit_morphology1.28172861
36MP0000534_abnormal_ureter_morphology1.28151966
37MP0002060_abnormal_skin_morphology1.25381087
38MP0000749_muscle_degeneration1.20410731
39MP0003941_abnormal_skin_development1.19627027
40MP0003385_abnormal_body_wall1.18054391
41MP0002128_abnormal_blood_circulation1.17496062
42MP0000003_abnormal_adipose_tissue1.17491255
43MP0005409_darkened_coat_color1.14906688
44MP0000733_abnormal_muscle_development1.14427320
45MP0005670_abnormal_white_adipose1.12331723
46MP0000759_abnormal_skeletal_muscle1.09810489
47MP0010352_gastrointestinal_tract_polyps1.06692880
48MP0002933_joint_inflammation1.06640361
49MP0005620_abnormal_muscle_contractility1.05739795
50MP0000462_abnormal_digestive_system1.04156605
51MP0002133_abnormal_respiratory_system1.04017249
52MP0005388_respiratory_system_phenotype1.04017249
53MP0002877_abnormal_melanocyte_morpholog1.03337884
54MP0001614_abnormal_blood_vessel1.01096198
55MP0004087_abnormal_muscle_fiber0.96618570
56MP0005165_increased_susceptibility_to0.96472119
57MP0005167_abnormal_blood-brain_barrier0.96158825
58MP0008004_abnormal_stomach_pH0.95712542
59MP0010386_abnormal_urinary_bladder0.94996043
60MP0002925_abnormal_cardiovascular_devel0.89787015
61MP0005164_abnormal_response_to0.89508231
62MP0000163_abnormal_cartilage_morphology0.87477195
63MP0002127_abnormal_cardiovascular_syste0.86918818
64MP0003942_abnormal_urinary_system0.86328036
65MP0004858_abnormal_nervous_system0.86262455
66MP0004233_abnormal_muscle_weight0.83960807
67MP0001915_intracranial_hemorrhage0.83757628
68MP0005390_skeleton_phenotype0.82615584
69MP0000428_abnormal_craniofacial_morphol0.81606139
70MP0002972_abnormal_cardiac_muscle0.80200407
71MP0005369_muscle_phenotype0.79654717
72MP0001661_extended_life_span0.79141731
73MP0002932_abnormal_joint_morphology0.78786276
74MP0002115_abnormal_skeleton_extremities0.77699260
75MP0005375_adipose_tissue_phenotype0.77446272
76MP0003045_fibrosis0.77150599
77MP0005330_cardiomyopathy0.76992536
78MP0000750_abnormal_muscle_regeneration0.76135916
79MP0001243_abnormal_dermal_layer0.75221559
80MP0002168_other_aberrant_phenotype0.74796076
81MP0000762_abnormal_tongue_morphology0.74691609
82MP0004859_abnormal_synaptic_plasticity0.74484352
83MP0004145_abnormal_muscle_electrophysio0.73408777
84MP0004215_abnormal_myocardial_fiber0.72534851
85MP0001177_atelectasis0.72191124
86MP0000747_muscle_weakness0.68838770
87MP0000249_abnormal_blood_vessel0.68700514
88MP0005385_cardiovascular_system_phenoty0.67825424
89MP0001544_abnormal_cardiovascular_syste0.67825424
90MP0002998_abnormal_bone_remodeling0.67784594
91MP0004085_abnormal_heartbeat0.67489005
92MP0010630_abnormal_cardiac_muscle0.67411285
93MP0003935_abnormal_craniofacial_develop0.66578025
94MP0001849_ear_inflammation0.66265913
95MP0004782_abnormal_surfactant_physiolog0.65634166
96MP0003300_gastrointestinal_ulcer0.65029704
97MP0004130_abnormal_muscle_cell0.64845376
98MP0001175_abnormal_lung_morphology0.64392693
99MP0000266_abnormal_heart_morphology0.63295741
100MP0002106_abnormal_muscle_physiology0.63153022

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.61731199
2Premature rupture of membranes (HP:0001788)6.32896050
3Aortic aneurysm (HP:0004942)5.53804576
4Aortic dissection (HP:0002647)5.15580314
5Vascular tortuosity (HP:0004948)4.45903795
6Type 1 muscle fiber predominance (HP:0003803)4.35075817
7Arterial tortuosity (HP:0005116)4.06966935
8Ankle contracture (HP:0006466)3.98222100
9Spinal rigidity (HP:0003306)3.83052699
10Soft skin (HP:0000977)3.77068233
11Follicular hyperkeratosis (HP:0007502)3.69483820
12Cerebral aneurysm (HP:0004944)3.54546509
13Bladder diverticulum (HP:0000015)3.52223858
14Broad metatarsal (HP:0001783)3.51849831
15Shallow orbits (HP:0000586)3.44585650
16Overgrowth (HP:0001548)3.34853364
17Wormian bones (HP:0002645)3.31162898
18Increased variability in muscle fiber diameter (HP:0003557)3.20465624
19Mitral valve prolapse (HP:0001634)3.14177259
20Atrophic scars (HP:0001075)3.08450895
21Cervical subluxation (HP:0003308)3.06470247
22Dilatation of the ascending aorta (HP:0005111)3.00464283
23Slender build (HP:0001533)3.00100249
24Fragile skin (HP:0001030)2.93966617
25Genu recurvatum (HP:0002816)2.87091102
26Increased connective tissue (HP:0009025)2.84355558
27Abnormality of skeletal muscle fiber size (HP:0012084)2.79632641
28Mildly elevated creatine phosphokinase (HP:0008180)2.78462060
29Abnormality of dentin (HP:0010299)2.78110832
30Wrist flexion contracture (HP:0001239)2.74131164
31Blue sclerae (HP:0000592)2.72124885
32Joint laxity (HP:0001388)2.69185952
33Neonatal short-limb short stature (HP:0008921)2.67199156
34Aneurysm (HP:0002617)2.65522281
35Spondylolisthesis (HP:0003302)2.62347709
36Aortic regurgitation (HP:0001659)2.60253101
37Wide anterior fontanel (HP:0000260)2.45501706
38Round ear (HP:0100830)2.43513342
39Hypoplasia of the iris (HP:0007676)2.39198401
40Bowel diverticulosis (HP:0005222)2.38360899
41Hyperextensible skin (HP:0000974)2.36785352
42Aortic valve stenosis (HP:0001650)2.36303458
43Osteolytic defects of the phalanges of the hand (HP:0009771)2.33930153
44Osteolytic defects of the hand bones (HP:0009699)2.33930153
45Mitral regurgitation (HP:0001653)2.30999830
46Hypoventilation (HP:0002791)2.30159344
47Limited hip movement (HP:0008800)2.24259597
48Vertebral compression fractures (HP:0002953)2.23890632
49Ectopia lentis (HP:0001083)2.22718552
50Peritonitis (HP:0002586)2.17524512
51Mitral stenosis (HP:0001718)2.13279108
52Ulnar bowing (HP:0003031)2.05803301
53Elbow flexion contracture (HP:0002987)2.05608104
54Joint stiffness (HP:0001387)2.05383470
55Camptodactyly of toe (HP:0001836)2.05344660
56Striae distensae (HP:0001065)2.04765315
57Pulmonary artery stenosis (HP:0004415)2.03968286
58Coronal craniosynostosis (HP:0004440)2.02301974
59Disproportionate tall stature (HP:0001519)2.01738312
60Abnormality of the acetabulum (HP:0003170)1.99344303
61Hip contracture (HP:0003273)1.97672792
62Muscle fiber splitting (HP:0003555)1.93389769
63Broad ribs (HP:0000885)1.92023275
64Lymphangioma (HP:0100764)1.90141438
65Obstructive sleep apnea (HP:0002870)1.88837889
66Mild short stature (HP:0003502)1.88497318
67Hyporeflexia of lower limbs (HP:0002600)1.86934254
68Protruding ear (HP:0000411)1.84553915
69Abnormal delivery (HP:0001787)1.84031202
70Biconcave vertebral bodies (HP:0004586)1.83510191
71Nonimmune hydrops fetalis (HP:0001790)1.82297950
72Short nail (HP:0001799)1.81905887
73Persistence of primary teeth (HP:0006335)1.81522363
74Knee flexion contracture (HP:0006380)1.79380742
75Ulnar deviation of the wrist (HP:0003049)1.78951799
76Hydroureter (HP:0000072)1.78831388
77Venous abnormality (HP:0002624)1.77624950
78Ovoid vertebral bodies (HP:0003300)1.76082447
79Joint contractures involving the joints of the feet (HP:0100492)1.75736710
80Flexion contracture of toe (HP:0005830)1.75736710
81Venous insufficiency (HP:0005293)1.73091759
82Long toe (HP:0010511)1.72321570
83Distal lower limb amyotrophy (HP:0008944)1.71822882
84Coxa vara (HP:0002812)1.71532474
85Inguinal hernia (HP:0000023)1.71492519
86Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.66395781
87Abnormality of the anterior chamber (HP:0000593)1.63252585
88Spinal cord compression (HP:0002176)1.62482488
89Pulmonic stenosis (HP:0001642)1.62383349
90Limb-girdle muscle weakness (HP:0003325)1.62222606
91Generalized amyotrophy (HP:0003700)1.61134877
92Arachnodactyly (HP:0001166)1.60808873
93Polycythemia (HP:0001901)1.60469807
94Distal lower limb muscle weakness (HP:0009053)1.60153660
95Osteoarthritis (HP:0002758)1.59646267
96Premature skin wrinkling (HP:0100678)1.59024986
97Lower limb amyotrophy (HP:0007210)1.58976518
98Bradycardia (HP:0001662)1.57529237
99Upper limb amyotrophy (HP:0009129)1.57470395
100Distal upper limb amyotrophy (HP:0007149)1.57470395

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TIE15.47697102
2MYLK4.28992467
3PDGFRA3.90150111
4TTN3.31747624
5TGFBR22.81172884
6DDR22.78974850
7LATS22.62940840
8RIPK12.61115288
9NTRK12.35071935
10EPHB22.34425732
11PTK22.19377966
12LATS12.05699129
13NEK92.03554710
14PAK21.87116058
15KDR1.83242512
16TRIB31.74891183
17AKT31.67992894
18MET1.64290805
19PDGFRB1.60940297
20DMPK1.57135247
21STK381.45839957
22TRPM71.38055880
23TESK11.17690099
24LIMK11.17189994
25PRKD21.14839871
26ROCK11.12280738
27PAK41.10629796
28PIK3CG1.08771394
29LMTK21.08569051
30PAK61.08532510
31ICK1.08097406
32CDC42BPA1.03452800
33FER1.00556327
34PTK2B0.99665959
35FLT30.97668928
36PRKG20.96376159
37ROCK20.95469372
38PRKD30.94899978
39SIK10.94149763
40GRK50.93092414
41RPS6KA20.93004582
42EEF2K0.92638775
43ERBB40.91677490
44MAP3K70.90335257
45ERN10.89487061
46MTOR0.87109629
47MARK20.85577467
48MAP3K60.85233663
49STK38L0.84155447
50ADRBK10.82672327
51ABL20.82652520
52MOS0.82037985
53EPHB10.80894435
54PRPF4B0.75963424
55MAPK70.74982811
56OBSCN0.72953882
57PKN20.72211921
58PRKD10.71999994
59DAPK30.71424981
60MARK10.71297661
61JAK10.63117917
62MAPK120.61784634
63KIT0.61492394
64GRK10.61083793
65WNK10.60852220
66MST1R0.60357643
67CAMK10.58401384
68GSK3A0.57616447
69CAMK2G0.56478822
70MAP2K10.54024099
71ILK0.52696965
72MELK0.50919835
73SGK30.50136258
74MAPKAPK30.48685531
75CAMK2B0.47627016
76GRK70.46872320
77CAMK1G0.44959891
78RET0.43583121
79PRKCE0.43242589
80PDPK10.42910466
81PAK30.42859280
82PRKAA20.42833862
83TGFBR10.42381174
84FGFR40.41556584
85PRKCH0.40701894
86KSR20.39899561
87MAPK40.39082776
88MAP2K30.38991476
89MAP3K30.38784013
90NTRK30.38185743
91STK30.36758498
92SRC0.35488141
93SGK20.35064264
94SGK4940.34912495
95SGK2230.34912495
96EPHA40.34822331
97MAP3K130.34740042
98ARAF0.34544107
99RPS6KC10.32614589
100RPS6KL10.32614589

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.07607939
2Focal adhesion_Homo sapiens_hsa045102.99741858
3Dilated cardiomyopathy_Homo sapiens_hsa054142.43470028
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.37137503
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.31320180
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.26382733
7Protein digestion and absorption_Homo sapiens_hsa049741.96654136
8AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.80200576
9Adherens junction_Homo sapiens_hsa045201.79052726
10Proteoglycans in cancer_Homo sapiens_hsa052051.76235188
11Amoebiasis_Homo sapiens_hsa051461.70102530
12Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.69929775
13Glycosaminoglycan degradation_Homo sapiens_hsa005311.68724497
14Vascular smooth muscle contraction_Homo sapiens_hsa042701.57048046
15Regulation of actin cytoskeleton_Homo sapiens_hsa048101.50546636
16Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.44648117
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.43591024
18TGF-beta signaling pathway_Homo sapiens_hsa043501.41006587
19cGMP-PKG signaling pathway_Homo sapiens_hsa040221.38813539
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.38206635
21PI3K-Akt signaling pathway_Homo sapiens_hsa041511.37682040
22Small cell lung cancer_Homo sapiens_hsa052221.25632189
23Gap junction_Homo sapiens_hsa045401.23396096
24Hippo signaling pathway_Homo sapiens_hsa043901.23214577
25Tight junction_Homo sapiens_hsa045301.21847433
26Phospholipase D signaling pathway_Homo sapiens_hsa040721.20302549
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.20166819
28Rap1 signaling pathway_Homo sapiens_hsa040151.18116725
29Melanogenesis_Homo sapiens_hsa049161.14264702
30Glioma_Homo sapiens_hsa052141.14172158
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.13621507
32Renin secretion_Homo sapiens_hsa049241.12736325
33Prion diseases_Homo sapiens_hsa050201.10332765
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09322424
35Melanoma_Homo sapiens_hsa052181.08792742
36Axon guidance_Homo sapiens_hsa043601.08691494
37Hedgehog signaling pathway_Homo sapiens_hsa043401.08012425
38MicroRNAs in cancer_Homo sapiens_hsa052061.03946944
39Pathways in cancer_Homo sapiens_hsa052001.01305205
40Leukocyte transendothelial migration_Homo sapiens_hsa046701.01255309
41Complement and coagulation cascades_Homo sapiens_hsa046101.00385050
42Renal cell carcinoma_Homo sapiens_hsa052110.98294848
43Oxytocin signaling pathway_Homo sapiens_hsa049210.97683728
44Dorso-ventral axis formation_Homo sapiens_hsa043200.96458892
45Gastric acid secretion_Homo sapiens_hsa049710.96421299
46Basal cell carcinoma_Homo sapiens_hsa052170.96109049
47Thyroid hormone signaling pathway_Homo sapiens_hsa049190.94738182
48Platelet activation_Homo sapiens_hsa046110.94504668
49Cocaine addiction_Homo sapiens_hsa050300.92552379
50GnRH signaling pathway_Homo sapiens_hsa049120.92264823
51Long-term potentiation_Homo sapiens_hsa047200.92021120
52cAMP signaling pathway_Homo sapiens_hsa040240.90735062
53Calcium signaling pathway_Homo sapiens_hsa040200.90594052
54Estrogen signaling pathway_Homo sapiens_hsa049150.90216561
55Chronic myeloid leukemia_Homo sapiens_hsa052200.88985697
56Ras signaling pathway_Homo sapiens_hsa040140.88936381
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88113608
58Bladder cancer_Homo sapiens_hsa052190.85756793
59Malaria_Homo sapiens_hsa051440.84749720
60Insulin secretion_Homo sapiens_hsa049110.77715296
61Circadian entrainment_Homo sapiens_hsa047130.77516625
62Notch signaling pathway_Homo sapiens_hsa043300.76696983
63Wnt signaling pathway_Homo sapiens_hsa043100.74585989
64Ovarian steroidogenesis_Homo sapiens_hsa049130.74008115
65Thyroid hormone synthesis_Homo sapiens_hsa049180.73093358
66Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.72165906
67Cholinergic synapse_Homo sapiens_hsa047250.71649981
68Endocytosis_Homo sapiens_hsa041440.70513621
69Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.70456233
70Salivary secretion_Homo sapiens_hsa049700.70105876
71Central carbon metabolism in cancer_Homo sapiens_hsa052300.69373851
72MAPK signaling pathway_Homo sapiens_hsa040100.68348859
73Longevity regulating pathway - mammal_Homo sapiens_hsa042110.68170112
74Glutamatergic synapse_Homo sapiens_hsa047240.68107341
75Circadian rhythm_Homo sapiens_hsa047100.67403846
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.65989065
77Prostate cancer_Homo sapiens_hsa052150.64323989
78Pancreatic cancer_Homo sapiens_hsa052120.63561836
79Pancreatic secretion_Homo sapiens_hsa049720.63260698
80Amphetamine addiction_Homo sapiens_hsa050310.62845257
81VEGF signaling pathway_Homo sapiens_hsa043700.62563879
82AMPK signaling pathway_Homo sapiens_hsa041520.61837815
83Choline metabolism in cancer_Homo sapiens_hsa052310.61541872
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.60688638
85Thyroid cancer_Homo sapiens_hsa052160.60657710
86Morphine addiction_Homo sapiens_hsa050320.58560061
87mTOR signaling pathway_Homo sapiens_hsa041500.57880570
88Vibrio cholerae infection_Homo sapiens_hsa051100.57718526
89GABAergic synapse_Homo sapiens_hsa047270.57635881
90ErbB signaling pathway_Homo sapiens_hsa040120.57509832
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57379174
92Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55353965
93Bile secretion_Homo sapiens_hsa049760.55164379
94Endometrial cancer_Homo sapiens_hsa052130.54853820
95Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.54802252
96Insulin signaling pathway_Homo sapiens_hsa049100.53720069
97Dopaminergic synapse_Homo sapiens_hsa047280.53514309
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.51000304
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50901165
100Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.49193019

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