COL6A2

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 one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* protein heterotrimerization (GO:0070208)8.72971324
2collagen fibril organization (GO:0030199)7.14614661
3bone trabecula formation (GO:0060346)6.45379225
4* collagen metabolic process (GO:0032963)5.58649404
5* collagen catabolic process (GO:0030574)5.52418635
6skin morphogenesis (GO:0043589)5.29954890
7extracellular fibril organization (GO:0043206)5.29915730
8* multicellular organismal macromolecule metabolic process (GO:0044259)5.29331517
9endodermal cell differentiation (GO:0035987)5.23359511
10* multicellular organismal catabolic process (GO:0044243)5.10605182
11* multicellular organismal metabolic process (GO:0044236)5.01482094
12sequestering of extracellular ligand from receptor (GO:0035581)4.82154601
13fibril organization (GO:0097435)4.62604195
14virion attachment to host cell (GO:0019062)4.60099112
15adhesion of symbiont to host cell (GO:0044650)4.60099112
16type B pancreatic cell proliferation (GO:0044342)4.59020649
17* extracellular matrix disassembly (GO:0022617)4.56524090
18regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.50651403
19chondrocyte proliferation (GO:0035988)4.42501509
20axon extension involved in axon guidance (GO:0048846)4.19915871
21neuron projection extension involved in neuron projection guidance (GO:1902284)4.19915871
22basement membrane organization (GO:0071711)4.18098930
23cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.08225798
24adhesion of symbiont to host (GO:0044406)3.99546966
25extracellular matrix assembly (GO:0085029)3.95173213
26negative regulation of smooth muscle cell migration (GO:0014912)3.83890901
27anatomical structure regression (GO:0060033)3.80786979
28keratan sulfate catabolic process (GO:0042340)3.80089214
29planar cell polarity pathway involved in neural tube closure (GO:0090179)3.72850273
30barbed-end actin filament capping (GO:0051016)3.71629356
31negative regulation of chondrocyte differentiation (GO:0032331)3.71484431
32outer ear morphogenesis (GO:0042473)3.70246781
33retina vasculature morphogenesis in camera-type eye (GO:0061299)3.58931243
34cell proliferation involved in metanephros development (GO:0072203)3.58757701
35negative regulation of fatty acid transport (GO:2000192)3.58733245
36regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.53829447
37metanephric mesenchyme development (GO:0072075)3.52622560
38glomerular basement membrane development (GO:0032836)3.49499986
39protein retention in ER lumen (GO:0006621)3.47953238
40apoptotic cell clearance (GO:0043277)3.47676850
41glomerular filtration (GO:0003094)3.47077933
42negative regulation of cartilage development (GO:0061037)3.42244835
43substrate-dependent cell migration (GO:0006929)3.40648639
44cellular response to amino acid stimulus (GO:0071230)3.40291108
45vascular endothelial growth factor signaling pathway (GO:0038084)3.38563748
46positive regulation of endothelial cell apoptotic process (GO:2000353)3.38437215
47plasma membrane repair (GO:0001778)3.38161098
48positive regulation of blood vessel endothelial cell migration (GO:0043536)3.35453122
49trabecula formation (GO:0060343)3.32813886
50maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.31351600
51kidney mesenchyme development (GO:0072074)3.29885440
52insulin-like growth factor receptor signaling pathway (GO:0048009)3.26362790
53dermatan sulfate biosynthetic process (GO:0030208)3.25469446
54Golgi transport vesicle coating (GO:0048200)3.24711098
55COPI coating of Golgi vesicle (GO:0048205)3.24711098
56cell migration involved in heart development (GO:0060973)3.23496943
57* extracellular matrix organization (GO:0030198)3.21636932
58mesenchymal-epithelial cell signaling (GO:0060638)3.20865605
59* extracellular structure organization (GO:0043062)3.20439997
60cardiac myofibril assembly (GO:0055003)3.20340537
61craniofacial suture morphogenesis (GO:0097094)3.19265440
62renal filtration (GO:0097205)3.18519649
63blood vessel maturation (GO:0001955)3.16139186
64epithelial cell-cell adhesion (GO:0090136)3.14579696
65cell migration involved in sprouting angiogenesis (GO:0002042)3.11493098
66G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.09660805
67negative regulation of catenin import into nucleus (GO:0035414)3.09247465
68wound healing, spreading of epidermal cells (GO:0035313)3.09194293
69gonadal mesoderm development (GO:0007506)3.08944826
70regulation of extracellular matrix disassembly (GO:0010715)3.07630763
71regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.07369312
72cellular response to vitamin (GO:0071295)3.07293594
73glial cell migration (GO:0008347)3.05321472
74peptidyl-proline hydroxylation (GO:0019511)3.04103713
75venous blood vessel morphogenesis (GO:0048845)3.03083062
76endothelial cell morphogenesis (GO:0001886)3.02493498
77positive regulation of epithelial to mesenchymal transition (GO:0010718)3.01694797
78positive regulation of fatty acid beta-oxidation (GO:0032000)3.00819196
79embryonic cranial skeleton morphogenesis (GO:0048701)3.00525189
80vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.97488217
81chondrocyte development (GO:0002063)2.96784321
82positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.95467654
83cellular response to vitamin D (GO:0071305)2.95279723
84polarized epithelial cell differentiation (GO:0030859)2.95242752
85dermatan sulfate metabolic process (GO:0030205)2.93075261
86adherens junction assembly (GO:0034333)2.92959969
87cell proliferation involved in kidney development (GO:0072111)2.91958596
88positive regulation of glycogen biosynthetic process (GO:0045725)2.91534490
89hemidesmosome assembly (GO:0031581)2.89964179
90positive regulation of mesenchymal cell proliferation (GO:0002053)2.89830236
91heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.88888508
92endocardial cushion development (GO:0003197)2.88657357
93stress fiber assembly (GO:0043149)2.85920925
94cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.84933744
95hippo signaling (GO:0035329)2.84382604
96chondroitin sulfate biosynthetic process (GO:0030206)2.84313346
97protein localization to endosome (GO:0036010)2.83888257
98middle ear morphogenesis (GO:0042474)2.83681013
99regulation of plasminogen activation (GO:0010755)2.82154201
100regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.81213010
101muscle cell migration (GO:0014812)2.81157081
102peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.80884204
103negative regulation of embryonic development (GO:0045992)2.80424449
104protein hydroxylation (GO:0018126)2.79120128
105negative regulation of BMP signaling pathway (GO:0030514)2.76780672
106regulation of gastrulation (GO:0010470)2.76357835
107positive regulation of fatty acid oxidation (GO:0046321)2.75807983
108* protein trimerization (GO:0070206)2.75310979
109positive regulation of osteoblast proliferation (GO:0033690)2.74528271
110hypotonic response (GO:0006971)2.72938466
111focal adhesion assembly (GO:0048041)2.72413347
112cell-substrate adherens junction assembly (GO:0007045)2.72413347
113heart morphogenesis (GO:0003007)2.70865879
114positive regulation of receptor recycling (GO:0001921)2.70800374
115extracellular regulation of signal transduction (GO:1900115)2.70495089
116extracellular negative regulation of signal transduction (GO:1900116)2.70495089
117regulation of smooth muscle cell migration (GO:0014910)2.70441162
118Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.70229208
119skin development (GO:0043588)2.67935356
120cochlea morphogenesis (GO:0090103)2.67029224
121mesenchyme morphogenesis (GO:0072132)2.65928720
122dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.65570397
123hyaluronan catabolic process (GO:0030214)2.65557402
124cell adhesion mediated by integrin (GO:0033627)2.65335061
125tooth mineralization (GO:0034505)2.65117180
126regulation of cartilage development (GO:0061035)2.64750525
127regulation of mesenchymal cell proliferation (GO:0010464)2.64011900
128replacement ossification (GO:0036075)2.63860692
129endochondral ossification (GO:0001958)2.63860692
130cell-substrate junction assembly (GO:0007044)2.63225574
131face morphogenesis (GO:0060325)2.63194162
132positive regulation of axon extension (GO:0045773)2.62818452
133substrate adhesion-dependent cell spreading (GO:0034446)2.60640729
134chondroitin sulfate catabolic process (GO:0030207)2.58499802
135embryonic skeletal joint morphogenesis (GO:0060272)2.57798032
136branching involved in salivary gland morphogenesis (GO:0060445)2.57226599
137regulation of establishment of planar polarity (GO:0090175)2.57211272
138negative regulation of leukocyte chemotaxis (GO:0002689)2.56964205
139peripheral nervous system axon ensheathment (GO:0032292)2.55787257
140myelination in peripheral nervous system (GO:0022011)2.55787257

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.40053696
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.20557324
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.95938380
4CLOCK_20551151_ChIP-Seq_293T_Human3.45919390
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.41912042
6* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.28389334
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.02325249
8* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.72106624
9* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.58060935
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.51580213
11* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.30705104
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.29127921
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.25509465
14* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.21597331
15SMAD_19615063_ChIP-ChIP_OVARY_Human2.12608255
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.10545241
17CJUN_26792858_Chip-Seq_BT549_Human2.09304639
18STAT6_21828071_ChIP-Seq_BEAS2B_Human2.01489261
19WT1_19549856_ChIP-ChIP_CCG9911_Human1.96992618
20TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.88563217
21ELK3_25401928_ChIP-Seq_HUVEC_Human1.88031914
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.81010554
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.80847869
24RNF2_18974828_ChIP-Seq_MESCs_Mouse1.78271009
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.78271009
26HIF1A_21447827_ChIP-Seq_MCF-7_Human1.75431557
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.73896859
28* BRD4_25478319_ChIP-Seq_HGPS_Human1.73623684
29TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.66700897
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.64855575
31TBX20_22328084_ChIP-Seq_HEART_Mouse1.59711851
32TBX20_22080862_ChIP-Seq_HEART_Mouse1.59711851
33KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54181638
34SOX9_24532713_ChIP-Seq_HFSC_Mouse1.53145323
35P300_27058665_Chip-Seq_ZR-75-30cells_Human1.51584121
36STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.50554943
37SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.48797977
38* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.46303757
39SMC1_22415368_ChIP-Seq_MEFs_Mouse1.45576083
40PPAR_26484153_Chip-Seq_NCI-H1993_Human1.44345693
41SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.43392161
42EGR1_19374776_ChIP-ChIP_THP-1_Human1.43338723
43CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42722610
44ISL1_27105846_Chip-Seq_CPCs_Mouse1.42068675
45TP53_20018659_ChIP-ChIP_R1E_Mouse1.41957810
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.40639782
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.40021957
48KDM2B_26808549_Chip-Seq_K562_Human1.38661186
49UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.37486144
50NRF2_20460467_ChIP-Seq_MEFs_Mouse1.37172312
51NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.37172312
52DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.36394633
53SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.32500993
54LXR_22292898_ChIP-Seq_THP-1_Human1.31418244
55RACK7_27058665_Chip-Seq_MCF-7_Human1.29525121
56UBF1/2_26484160_Chip-Seq_HMECs_Human1.27603540
57NFIB_24661679_ChIP-Seq_LUNG_Mouse1.27390643
58KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.26178258
59JARID2_20075857_ChIP-Seq_MESCs_Mouse1.25428426
60BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.21859848
61ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.19507063
62NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.19491263
63ZNF263_19887448_ChIP-Seq_K562_Human1.19170460
64EZH2_27304074_Chip-Seq_ESCs_Mouse1.18803363
65KDM2B_26808549_Chip-Seq_DND41_Human1.18731994
66TP53_22127205_ChIP-Seq_IMR90_Human1.17869299
67WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17430925
68JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17302645
69PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.16946435
70ERG_21242973_ChIP-ChIP_JURKAT_Human1.16172981
71SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.15470464
72RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15386664
73ESR1_20079471_ChIP-ChIP_T-47D_Human1.15140846
74TP53_18474530_ChIP-ChIP_U2OS_Human1.14857942
75* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14043786
76ATF3_27146783_Chip-Seq_COLON_Human1.13942363
77TET1_21490601_ChIP-Seq_MESCs_Mouse1.13410876
78MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.12634668
79THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.12540432
80KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.12256544
81SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12169916
82SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12169916
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.12044324
84TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.12014797
85RNF2_27304074_Chip-Seq_ESCs_Mouse1.10060169
86* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08120714
87KDM2B_26808549_Chip-Seq_JURKAT_Human1.08090649
88FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.07692032
89FOXO3_23340844_ChIP-Seq_DLD1_Human1.07175022
90KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.07077885
91SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.06746874
92* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06658441
93* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06291457
94MTF2_20144788_ChIP-Seq_MESCs_Mouse1.06043296
95TP53_16413492_ChIP-PET_HCT116_Human1.05740771
96ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05499511
97* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05315937
98P63_26484246_Chip-Seq_KERATINOCYTES_Human1.04564044
99RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.04019740
100SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03894151
101GATA2_21666600_ChIP-Seq_HMVEC_Human1.02516150
102TP53_23651856_ChIP-Seq_MEFs_Mouse1.02515010
103EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01524234
104SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.00974665
105ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00773530
106TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00383254
107POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.00177102
108HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.99487395
109* SA1_22415368_ChIP-Seq_MEFs_Mouse0.99205370
110NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99000676
111DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98722802
112SOX2_20726797_ChIP-Seq_SW620_Human0.98713082
113SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.98549637
114* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98161109
115ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.98083050
116MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.96853229
117* DROSHA_22980978_ChIP-Seq_HELA_Human0.96548360

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.00801406
2MP0005275_abnormal_skin_tensile6.07381787
3MP0005503_abnormal_tendon_morphology5.50394832
4MP0003705_abnormal_hypodermis_morpholog3.99173594
5MP0003279_aneurysm3.30677420
6MP0001958_emphysema3.28373988
7MP0004272_abnormal_basement_membrane3.22374645
8MP0006054_spinal_hemorrhage2.66191222
9MP0000751_myopathy2.50510339
10MP0002060_abnormal_skin_morphology2.38806351
11MP0005623_abnormal_meninges_morphology2.23059621
12MP0002108_abnormal_muscle_morphology2.16676628
13MP0005257_abnormal_intraocular_pressure2.15219198
14MP0005508_abnormal_skeleton_morphology2.13354112
15MP0009384_cardiac_valve_regurgitation1.85869206
16MP0004858_abnormal_nervous_system1.71881992
17MP0001243_abnormal_dermal_layer1.69254948
18MP0000013_abnormal_adipose_tissue1.61738801
19MP0009250_abnormal_appendicular_skeleto1.59267088
20MP0003566_abnormal_cell_adhesion1.57829007
21MP0010030_abnormal_orbit_morphology1.56180411
22MP0003385_abnormal_body_wall1.54342930
23MP0002896_abnormal_bone_mineralization1.52839756
24MP0004134_abnormal_chest_morphology1.40712845
25MP0001542_abnormal_bone_strength1.36193740
26MP0003950_abnormal_plasma_membrane1.35557678
27MP0000733_abnormal_muscle_development1.34946819
28MP0002295_abnormal_pulmonary_circulatio1.33692188
29MP0003283_abnormal_digestive_organ1.28662936
30MP0002877_abnormal_melanocyte_morpholog1.26708632
31MP0000003_abnormal_adipose_tissue1.25911246
32MP0002837_dystrophic_cardiac_calcinosis1.25364736
33MP0005023_abnormal_wound_healing1.23434011
34MP0002282_abnormal_trachea_morphology1.21877834
35MP0000767_abnormal_smooth_muscle1.18897006
36MP0003091_abnormal_cell_migration1.17193314
37MP0000428_abnormal_craniofacial_morphol1.15650617
38MP0002254_reproductive_system_inflammat1.15425985
39MP0000750_abnormal_muscle_regeneration1.14638868
40MP0003115_abnormal_respiratory_system1.13150033
41MP0004185_abnormal_adipocyte_glucose1.12855985
42MP0002115_abnormal_skeleton_extremities1.12517985
43MP0005390_skeleton_phenotype1.11637978
44MP0000163_abnormal_cartilage_morphology1.11224422
45MP0000534_abnormal_ureter_morphology1.09708057
46MP0005076_abnormal_cell_differentiation1.08736433
47MP0002932_abnormal_joint_morphology1.08643424
48MP0005670_abnormal_white_adipose1.08221887
49MP0005375_adipose_tissue_phenotype1.07366617
50MP0001299_abnormal_eye_distance/1.06285993
51MP0003045_fibrosis1.03798463
52MP0002249_abnormal_larynx_morphology1.02656162
53MP0002933_joint_inflammation1.02245121
54MP0001348_abnormal_lacrimal_gland1.00884665
55MP0003122_maternal_imprinting1.00764706
56MP0004084_abnormal_cardiac_muscle0.96448692
57MP0005666_abnormal_adipose_tissue0.95802916
58MP0000462_abnormal_digestive_system0.94307978
59MP0000049_abnormal_middle_ear0.92294068
60MP0004087_abnormal_muscle_fiber0.91903041
61MP0003942_abnormal_urinary_system0.90647490
62MP0002168_other_aberrant_phenotype0.90620295
63MP0005164_abnormal_response_to0.90358225
64MP0010368_abnormal_lymphatic_system0.88895627
65MP0000762_abnormal_tongue_morphology0.88813067
66MP0005369_muscle_phenotype0.88766925
67MP0000759_abnormal_skeletal_muscle0.88735836
68MP0003448_altered_tumor_morphology0.85544592
69MP0002113_abnormal_skeleton_development0.84931994
70MP0002998_abnormal_bone_remodeling0.84835842
71MP0005058_abnormal_lysosome_morphology0.83988815
72MP0009053_abnormal_anal_canal0.83505859
73MP0009840_abnormal_foam_cell0.81920190
74MP0003755_abnormal_palate_morphology0.81676757
75MP0006138_congestive_heart_failure0.81326278
76MP0004130_abnormal_muscle_cell0.80024723
77MP0003300_gastrointestinal_ulcer0.78935602
78MP0003935_abnormal_craniofacial_develop0.77862775
79MP0002128_abnormal_blood_circulation0.77532495
80MP0002109_abnormal_limb_morphology0.76662866
81MP0009278_abnormal_bone_marrow0.74459654
82MP0010386_abnormal_urinary_bladder0.73501411
83MP0002116_abnormal_craniofacial_bone0.73017779
84MP0010352_gastrointestinal_tract_polyps0.72830909
85MP0005330_cardiomyopathy0.72778309
86MP0001879_abnormal_lymphatic_vessel0.71969993
87MP0002089_abnormal_postnatal_growth/wei0.71903410
88MP0005171_absent_coat_pigmentation0.71899536
89MP0001614_abnormal_blood_vessel0.71798699
90MP0003941_abnormal_skin_development0.71447699
91MP0001533_abnormal_skeleton_physiology0.71265777
92MP0010771_integument_phenotype0.70243189
93MP0001915_intracranial_hemorrhage0.70027279
94MP0005409_darkened_coat_color0.69927660
95MP0000432_abnormal_head_morphology0.69081426
96MP0000749_muscle_degeneration0.68805209
97MP0005595_abnormal_vascular_smooth0.67320341
98MP0001849_ear_inflammation0.67203697
99MP0010630_abnormal_cardiac_muscle0.66624149
100MP0005388_respiratory_system_phenotype0.66442551
101MP0002133_abnormal_respiratory_system0.66442551
102MP0009780_abnormal_chondrocyte_physiolo0.66170106
103MP0000579_abnormal_nail_morphology0.66118998
104MP0002106_abnormal_muscle_physiology0.66022425
105MP0001544_abnormal_cardiovascular_syste0.65553802
106MP0005385_cardiovascular_system_phenoty0.65553802
107MP0001175_abnormal_lung_morphology0.64286214
108MP0005197_abnormal_uvea_morphology0.63777066
109MP0004510_myositis0.63247469
110MP0008775_abnormal_heart_ventricle0.62949807
111MP0002925_abnormal_cardiovascular_devel0.62561204
112MP0003795_abnormal_bone_structure0.62392057
113MP0002233_abnormal_nose_morphology0.61361203
114MP0000537_abnormal_urethra_morphology0.60688155
115MP0004145_abnormal_muscle_electrophysio0.59587123
116MP0005620_abnormal_muscle_contractility0.59372163
117MP0002114_abnormal_axial_skeleton0.59154357
118MP0005165_increased_susceptibility_to0.58837942
119MP0000858_altered_metastatic_potential0.57278492
120MP0000467_abnormal_esophagus_morphology0.53094930
121MP0004883_abnormal_blood_vessel0.51399042

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.16876760
2Premature rupture of membranes (HP:0001788)7.68093164
3* Ankle contracture (HP:0006466)6.27766244
4Aortic dissection (HP:0002647)5.39034569
5Atrophic scars (HP:0001075)5.33007250
6Broad metatarsal (HP:0001783)5.02635837
7Soft skin (HP:0000977)4.86257884
8* Type 1 muscle fiber predominance (HP:0003803)4.83544297
9* Follicular hyperkeratosis (HP:0007502)4.74050723
10Fragile skin (HP:0001030)4.70049482
11Bladder diverticulum (HP:0000015)4.63226789
12Shallow orbits (HP:0000586)4.62007140
13Peritonitis (HP:0002586)4.44289717
14Cerebral aneurysm (HP:0004944)4.31453936
15Neonatal short-limb short stature (HP:0008921)3.92222604
16Mitral valve prolapse (HP:0001634)3.85212647
17Dilatation of the ascending aorta (HP:0005111)3.84362805
18* Slender build (HP:0001533)3.76090697
19* Spinal rigidity (HP:0003306)3.63761787
20Abnormality of dentin (HP:0010299)3.60773975
21Genu recurvatum (HP:0002816)3.55577667
22Aortic aneurysm (HP:0004942)3.49016493
23Blue sclerae (HP:0000592)3.19916435
24* Mildly elevated creatine phosphokinase (HP:0008180)3.15482449
25* Increased variability in muscle fiber diameter (HP:0003557)3.14039659
26Cervical subluxation (HP:0003308)3.06512924
27Wormian bones (HP:0002645)3.05416373
28Wrist flexion contracture (HP:0001239)3.00413444
29Biconcave vertebral bodies (HP:0004586)2.99993628
30Hyperextensible skin (HP:0000974)2.98736967
31Bowel diverticulosis (HP:0005222)2.96483550
32Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.94594579
33Short 4th metacarpal (HP:0010044)2.94594579
34* Increased connective tissue (HP:0009025)2.90524584
35* Abnormality of skeletal muscle fiber size (HP:0012084)2.70043093
36* Joint laxity (HP:0001388)2.68497294
37Vertebral compression fractures (HP:0002953)2.67829631
38Striae distensae (HP:0001065)2.55659683
39Infantile muscular hypotonia (HP:0008947)2.53672551
40Deviation of the hallux (HP:0010051)2.52632468
41Abnormality of the 4th metacarpal (HP:0010012)2.51228432
42Abnormal delivery (HP:0001787)2.50165771
43Wide anterior fontanel (HP:0000260)2.48428416
44Hallux valgus (HP:0001822)2.45620332
45Ectopia lentis (HP:0001083)2.45592505
46Osteolytic defects of the hand bones (HP:0009699)2.42688066
47Osteolytic defects of the phalanges of the hand (HP:0009771)2.42688066
48Venous insufficiency (HP:0005293)2.39959715
49Joint stiffness (HP:0001387)2.39311187
50Muscle fiber splitting (HP:0003555)2.39031472
51Osteoarthritis (HP:0002758)2.38437510
52Nonimmune hydrops fetalis (HP:0001790)2.36935664
53Venous abnormality (HP:0002624)2.36565398
54Aneurysm (HP:0002617)2.33781876
55* Elbow flexion contracture (HP:0002987)2.29864225
56Overgrowth (HP:0001548)2.28910147
57Thin bony cortex (HP:0002753)2.27396928
58Flat cornea (HP:0007720)2.26785603
59Abnormality of the acetabulum (HP:0003170)2.26384257
60Abnormality of the peritoneum (HP:0002585)2.25088104
61Mitral regurgitation (HP:0001653)2.23241381
62Aortic valve stenosis (HP:0001650)2.23206683
63Breech presentation (HP:0001623)2.22255329
64Alopecia of scalp (HP:0002293)2.18929044
65Aortic regurgitation (HP:0001659)2.16904267
66Broad ribs (HP:0000885)2.15993611
67Renovascular hypertension (HP:0100817)2.12796889
68Round ear (HP:0100830)2.09064254
69Mild short stature (HP:0003502)2.08975627
70Long toe (HP:0010511)2.08134157
71Ulnar bowing (HP:0003031)2.07396002
72Natal tooth (HP:0000695)2.06744066
73Vascular tortuosity (HP:0004948)2.05229248
74Upper limb amyotrophy (HP:0009129)2.04830194
75Distal upper limb amyotrophy (HP:0007149)2.04830194
76Mesomelia (HP:0003027)2.04785470
77Buphthalmos (HP:0000557)2.03638398
78Morphological abnormality of the middle ear (HP:0008609)2.03099345
79Camptodactyly of toe (HP:0001836)1.99289950
80Disproportionate tall stature (HP:0001519)1.98739888
81Premature skin wrinkling (HP:0100678)1.97896090
82Obstructive sleep apnea (HP:0002870)1.97236016
83Tibial bowing (HP:0002982)1.96882974
84Narrow nasal bridge (HP:0000446)1.93721569
85Thin skin (HP:0000963)1.92671547
86* Generalized amyotrophy (HP:0003700)1.90773499
87Bell-shaped thorax (HP:0001591)1.90082034
88* Hypoventilation (HP:0002791)1.89029053
89Spondylolisthesis (HP:0003302)1.88357142
90Abnormality of skull ossification (HP:0002703)1.88234788
91Arterial tortuosity (HP:0005116)1.88212356
92Hyperacusis (HP:0010780)1.88203591
93Inguinal hernia (HP:0000023)1.87157596
94Hip contracture (HP:0003273)1.87044903
95Hypoplastic ischia (HP:0003175)1.86901377
96Delayed cranial suture closure (HP:0000270)1.86811496
97Femoral bowing (HP:0002980)1.86640729
98Short nail (HP:0001799)1.85298325
99Broad long bones (HP:0005622)1.84457225
100Redundant skin (HP:0001582)1.83324557
101* Protruding ear (HP:0000411)1.82137850
102Coxa vara (HP:0002812)1.81492163
103Absent frontal sinuses (HP:0002688)1.80932075
104Mitral stenosis (HP:0001718)1.80606577
105Delayed closure of the anterior fontanelle (HP:0001476)1.80474557
106Milia (HP:0001056)1.78603616
107Coronal craniosynostosis (HP:0004440)1.78216702
108Pulmonary artery stenosis (HP:0004415)1.78162383
109Ovoid vertebral bodies (HP:0003300)1.78041829
110* Limb-girdle muscle weakness (HP:0003325)1.77817289
111Distal lower limb amyotrophy (HP:0008944)1.77443806
112Lymphangioma (HP:0100764)1.77249321
113Renal duplication (HP:0000075)1.73952854
114Emphysema (HP:0002097)1.73330186
115Knee flexion contracture (HP:0006380)1.71733684
116Persistence of primary teeth (HP:0006335)1.71262069
117Turricephaly (HP:0000262)1.70717562
118Asymmetry of the thorax (HP:0001555)1.70052793
119Bowing of the arm (HP:0006488)1.69344222
120Bowed forearm bones (HP:0003956)1.69344222
121Ulnar deviation of the wrist (HP:0003049)1.69264470
122Rectal prolapse (HP:0002035)1.65863634
123Platyspondyly (HP:0000926)1.64828040
124Osteopenia (HP:0000938)1.64387562

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB35.03182682
2DDR24.52665548
3TTN3.97465287
4PDGFRA3.96432756
5SIK13.38610456
6PKN23.09250988
7RIPK12.87013592
8LATS12.82855866
9ERN12.71633468
10LATS22.55142458
11EPHB22.34438461
12MYLK1.93934615
13DMPK1.83427543
14TGFBR21.78039089
15PAK21.75726876
16EPHA31.70008893
17CAMK1D1.64743319
18LIMK11.63064181
19EEF2K1.62990410
20PTK61.61738485
21FGFR21.57876353
22MAP3K61.51702731
23BMX1.51055060
24AKT31.50157104
25FER1.45121903
26PDGFRB1.44371305
27MAP3K101.42315074
28STK381.42300905
29LMTK21.30487731
30EPHB11.29829887
31FGFR11.29747662
32PTK21.27453265
33MET1.25975127
34CAMK1G1.24395610
35PTK2B1.19489635
36STK31.18417376
37PRPF4B1.17526618
38ILK1.09464382
39MTOR1.08251285
40PAK41.07801781
41ROCK11.04108333
42FGFR41.03827768
43TRPM71.03228696
44LRRK20.98290207
45ICK0.94705979
46MAPK70.94474582
47PIK3CA0.93926421
48SMG10.91690117
49PAK30.91040332
50TAOK20.86455241
51PRKD10.79389967
52RET0.76942473
53PRKD20.75393370
54FGFR30.73463324
55PRKCH0.71523914
56ROCK20.70960121
57GRK50.70482382
58NEK90.70394725
59IRAK30.70351778
60DAPK30.70275691
61MST1R0.70232290
62FRK0.69927274
63FLT30.68734562
64TIE10.67930520
65RPS6KA40.67696699
66ERBB40.67293304
67PRKD30.67226068
68KIT0.65885457
69MAP2K10.64586861
70JAK10.64355511
71CDC42BPA0.61876879
72STK38L0.59836469
73MAP3K30.58818720
74CDK120.58494110
75PIM20.57459741
76NTRK10.56219000
77WNK10.56083011
78MAP3K70.54956337
79ZAP700.53899441
80ARAF0.52707318
81PDK40.52079027
82PDK30.52079027
83MAP3K130.51162565
84EPHA20.50957275
85JAK30.49028106
86TYRO30.47904558
87KSR20.47726720
88CLK10.46329148
89DYRK1B0.46072928
90INSR0.45051971
91CDK60.44194376
92SRC0.42940331
93PDPK10.42381840
94TGFBR10.42173260
95MAPK40.41290398
96OBSCN0.39959184
97PHKG10.39909712
98PHKG20.39909712
99MOS0.39456947
100HIPK20.39264295
101CAMK2G0.38708494
102GRK70.38203336
103PAK10.36912119
104GSK3A0.36374386
105ADRBK10.35525266
106PIK3CG0.34743291
107MELK0.33980381
108MAPK10.33700089
109TAOK10.33473003
110PAK60.32885789
111TYK20.32279982
112MARK20.32165772
113CAMKK10.30502242
114KDR0.30396081
115TBK10.29989319
116PRKG20.29799762
117RPS6KA20.29757324
118MARK10.28249078
119PRKAA20.27972636
120ABL20.27683461
121MAP2K30.25983018
122MAPKAPK50.25785497
123MAPKAPK20.25608441
124RPS6KL10.25417054
125RPS6KC10.25417054
126PDK20.25203887
127TESK10.23891683
128IGF1R0.22621570
129MAPKAPK30.22604055
130RPS6KA60.22315595

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045125.18773865
2* Protein digestion and absorption_Homo sapiens_hsa049744.06645310
3* Focal adhesion_Homo sapiens_hsa045103.26066184
4Amoebiasis_Homo sapiens_hsa051462.53243916
5Basal cell carcinoma_Homo sapiens_hsa052172.39876571
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.24202360
7Proteoglycans in cancer_Homo sapiens_hsa052052.14543971
8Hedgehog signaling pathway_Homo sapiens_hsa043402.11707882
9Dilated cardiomyopathy_Homo sapiens_hsa054142.07495559
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.00038994
11Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.98516469
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.93045052
13Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.84762177
14Small cell lung cancer_Homo sapiens_hsa052221.82234087
15Adherens junction_Homo sapiens_hsa045201.79823975
16* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.67668983
17Other glycan degradation_Homo sapiens_hsa005111.63905033
18Malaria_Homo sapiens_hsa051441.61351727
19TGF-beta signaling pathway_Homo sapiens_hsa043501.54629825
20Hippo signaling pathway_Homo sapiens_hsa043901.51218636
21Bladder cancer_Homo sapiens_hsa052191.48426411
22Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.44010831
23MicroRNAs in cancer_Homo sapiens_hsa052061.37001694
24Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.29215404
25Chronic myeloid leukemia_Homo sapiens_hsa052201.27568485
26Melanoma_Homo sapiens_hsa052181.22460558
27Viral myocarditis_Homo sapiens_hsa054161.19654229
28Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.19294246
29Pathways in cancer_Homo sapiens_hsa052001.17454630
30PPAR signaling pathway_Homo sapiens_hsa033201.16502190
31Insulin resistance_Homo sapiens_hsa049311.15094547
32Central carbon metabolism in cancer_Homo sapiens_hsa052301.14518241
33Platelet activation_Homo sapiens_hsa046111.14204749
34Notch signaling pathway_Homo sapiens_hsa043301.09856675
35Toxoplasmosis_Homo sapiens_hsa051451.07714402
36Glioma_Homo sapiens_hsa052141.07277827
37Adipocytokine signaling pathway_Homo sapiens_hsa049201.06658373
38Prostate cancer_Homo sapiens_hsa052151.03626983
39Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.01998022
40Regulation of actin cytoskeleton_Homo sapiens_hsa048101.01849557
41Wnt signaling pathway_Homo sapiens_hsa043100.97354752
42Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.96863895
43AMPK signaling pathway_Homo sapiens_hsa041520.95952781
44Leukocyte transendothelial migration_Homo sapiens_hsa046700.92044820
45Melanogenesis_Homo sapiens_hsa049160.91139827
46Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90845873
47Axon guidance_Homo sapiens_hsa043600.90770337
48Complement and coagulation cascades_Homo sapiens_hsa046100.87922928
49Lysosome_Homo sapiens_hsa041420.87662786
50Tight junction_Homo sapiens_hsa045300.87297946
51Pancreatic cancer_Homo sapiens_hsa052120.87292248
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.86858867
53Estrogen signaling pathway_Homo sapiens_hsa049150.84476599
54Lysine degradation_Homo sapiens_hsa003100.82075187
55Rap1 signaling pathway_Homo sapiens_hsa040150.80165633
56Fatty acid biosynthesis_Homo sapiens_hsa000610.78841711
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.78762166
58mTOR signaling pathway_Homo sapiens_hsa041500.77816167
59HTLV-I infection_Homo sapiens_hsa051660.76981108
60Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.76138167
61Insulin signaling pathway_Homo sapiens_hsa049100.74534093
62Vibrio cholerae infection_Homo sapiens_hsa051100.74271212
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.72164378
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.71879656
65Renin-angiotensin system_Homo sapiens_hsa046140.71767326
66Renal cell carcinoma_Homo sapiens_hsa052110.71337335
67Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.71160294
68Galactose metabolism_Homo sapiens_hsa000520.71025757
69Ovarian steroidogenesis_Homo sapiens_hsa049130.69829056
70Pertussis_Homo sapiens_hsa051330.69496575
71Fatty acid metabolism_Homo sapiens_hsa012120.68905886
722-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.68760546
73Endometrial cancer_Homo sapiens_hsa052130.67207741
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.66351629
75TNF signaling pathway_Homo sapiens_hsa046680.65903979
76HIF-1 signaling pathway_Homo sapiens_hsa040660.65832836
77Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65320486
78Shigellosis_Homo sapiens_hsa051310.64846591
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.63943930
80Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.61803684
81Colorectal cancer_Homo sapiens_hsa052100.61548030
82N-Glycan biosynthesis_Homo sapiens_hsa005100.59232203
83Gap junction_Homo sapiens_hsa045400.59119707
84Thyroid hormone synthesis_Homo sapiens_hsa049180.58404600
85Prolactin signaling pathway_Homo sapiens_hsa049170.56960479
86MAPK signaling pathway_Homo sapiens_hsa040100.56877655
87GnRH signaling pathway_Homo sapiens_hsa049120.56677009
88Renin secretion_Homo sapiens_hsa049240.54683820
89Fatty acid degradation_Homo sapiens_hsa000710.53789511
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.52624834
91Cocaine addiction_Homo sapiens_hsa050300.52512450
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.52275622
93VEGF signaling pathway_Homo sapiens_hsa043700.51335453
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.51200637
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50544935
96Glucagon signaling pathway_Homo sapiens_hsa049220.50227819
97Choline metabolism in cancer_Homo sapiens_hsa052310.49470338
98Acute myeloid leukemia_Homo sapiens_hsa052210.48482018
99Type II diabetes mellitus_Homo sapiens_hsa049300.48281405
100Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.47426034
101Salmonella infection_Homo sapiens_hsa051320.46340745
102Sphingolipid signaling pathway_Homo sapiens_hsa040710.45903283
103Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.44386969
104ErbB signaling pathway_Homo sapiens_hsa040120.44349776
105Ras signaling pathway_Homo sapiens_hsa040140.44207987
106FoxO signaling pathway_Homo sapiens_hsa040680.43777195
107cAMP signaling pathway_Homo sapiens_hsa040240.41937509
108Endocytosis_Homo sapiens_hsa041440.41345821
109Dorso-ventral axis formation_Homo sapiens_hsa043200.41183381
110Cyanoamino acid metabolism_Homo sapiens_hsa004600.41016401
111Pentose phosphate pathway_Homo sapiens_hsa000300.40797042
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.39839602
113Prion diseases_Homo sapiens_hsa050200.38705519
114Oxytocin signaling pathway_Homo sapiens_hsa049210.38227921
115Osteoclast differentiation_Homo sapiens_hsa043800.37544716
116Non-small cell lung cancer_Homo sapiens_hsa052230.36792653
117Hepatitis B_Homo sapiens_hsa051610.36501283
118Thyroid cancer_Homo sapiens_hsa052160.36377247
119Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.33706921
120Phagosome_Homo sapiens_hsa041450.32324463

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