COL8A1

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 two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1collagen fibril organization (GO:0030199)7.66816555
2bone trabecula formation (GO:0060346)6.94033612
3protein heterotrimerization (GO:0070208)6.78930932
4sequestering of extracellular ligand from receptor (GO:0035581)6.66027761
5chondrocyte proliferation (GO:0035988)6.47076033
6skin morphogenesis (GO:0043589)5.12219768
7neuron projection extension involved in neuron projection guidance (GO:1902284)4.95199653
8axon extension involved in axon guidance (GO:0048846)4.95199653
9extracellular fibril organization (GO:0043206)4.84233867
10cell adhesion mediated by integrin (GO:0033627)4.80107954
11dermatan sulfate biosynthetic process (GO:0030208)4.74001787
12* endodermal cell differentiation (GO:0035987)4.67631681
13negative regulation of fatty acid transport (GO:2000192)4.49574256
14extracellular matrix assembly (GO:0085029)4.39051681
15dermatan sulfate metabolic process (GO:0030205)4.33636429
16craniofacial suture morphogenesis (GO:0097094)4.33319455
17lymphangiogenesis (GO:0001946)4.31359313
18* collagen metabolic process (GO:0032963)4.28950922
19fibril organization (GO:0097435)4.28502108
20regulation of branching involved in salivary gland morphogenesis (GO:0060693)4.27805917
21chondrocyte development (GO:0002063)4.26822085
22positive regulation of endothelial cell apoptotic process (GO:2000353)4.24955133
23regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.20499329
24* collagen catabolic process (GO:0030574)4.20152786
25substrate-dependent cell migration (GO:0006929)4.14697358
26metanephric mesenchyme development (GO:0072075)4.09659371
27cellular response to vitamin D (GO:0071305)4.09211314
28keratan sulfate catabolic process (GO:0042340)4.03478596
29planar cell polarity pathway involved in neural tube closure (GO:0090179)4.02547466
30* multicellular organismal macromolecule metabolic process (GO:0044259)4.00084901
31mesenchymal-epithelial cell signaling (GO:0060638)3.95889948
32wound healing, spreading of epidermal cells (GO:0035313)3.95841662
33extracellular negative regulation of signal transduction (GO:1900116)3.93857846
34extracellular regulation of signal transduction (GO:1900115)3.93857846
35blood vessel maturation (GO:0001955)3.89343387
36regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.87601536
37kidney mesenchyme development (GO:0072074)3.85983232
38cellular response to vitamin (GO:0071295)3.85522877
39* multicellular organismal catabolic process (GO:0044243)3.83510599
40negative regulation of chondrocyte differentiation (GO:0032331)3.76746259
41* multicellular organismal metabolic process (GO:0044236)3.76274473
42* extracellular matrix disassembly (GO:0022617)3.72613148
43cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.71765614
44plasma membrane repair (GO:0001778)3.69567429
45peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.67847407
46cranial suture morphogenesis (GO:0060363)3.62718105
47tooth mineralization (GO:0034505)3.50938577
48retina vasculature morphogenesis in camera-type eye (GO:0061299)3.47049409
49type B pancreatic cell proliferation (GO:0044342)3.39576809
50glomerular basement membrane development (GO:0032836)3.39058873
51endocardial cushion development (GO:0003197)3.38342379
52peptidyl-proline hydroxylation (GO:0019511)3.35465229
53* extracellular matrix organization (GO:0030198)3.34097254
54* extracellular structure organization (GO:0043062)3.32648651
55negative regulation of embryonic development (GO:0045992)3.32255856
56positive regulation of osteoblast proliferation (GO:0033690)3.31960961
57glomerular filtration (GO:0003094)3.30496908
58protein localization to cell surface (GO:0034394)3.26089953
59smooth muscle tissue development (GO:0048745)3.24345107
60cartilage condensation (GO:0001502)3.23180143
61cell aggregation (GO:0098743)3.23180143
62positive regulation of epithelial to mesenchymal transition (GO:0010718)3.21590756
63basement membrane organization (GO:0071711)3.21216395
64wound healing, spreading of cells (GO:0044319)3.20694647
65epithelial cell-cell adhesion (GO:0090136)3.20603793
66embryonic cranial skeleton morphogenesis (GO:0048701)3.20324039
67hippo signaling (GO:0035329)3.18354213
68renal filtration (GO:0097205)3.15103104
69endothelial cell morphogenesis (GO:0001886)3.15077474
70trabecula formation (GO:0060343)3.14196267
71artery development (GO:0060840)3.09892696
72regulation of plasminogen activation (GO:0010755)3.08620527
73Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.08012151
74negative regulation of axon extension involved in axon guidance (GO:0048843)3.05821696
75negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.04937336
76negative regulation of cartilage development (GO:0061037)3.03798927
77regulation of establishment of planar polarity (GO:0090175)3.03024860
78neuron remodeling (GO:0016322)3.01691353
79positive regulation of blood vessel endothelial cell migration (GO:0043536)3.01674086
80negative chemotaxis (GO:0050919)3.01465513
81insulin-like growth factor receptor signaling pathway (GO:0048009)3.01182045
82G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.01123028
83regulation of SMAD protein import into nucleus (GO:0060390)3.00641397
84vascular endothelial growth factor signaling pathway (GO:0038084)3.00096636
85negative regulation of nitric-oxide synthase activity (GO:0051001)2.96831719
86venous blood vessel morphogenesis (GO:0048845)2.96528376
87pericardium development (GO:0060039)2.94915782
88regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.94316752
89positive regulation of fibroblast migration (GO:0010763)2.94090152
90outer ear morphogenesis (GO:0042473)2.94000098
91sprouting angiogenesis (GO:0002040)2.92979480
92face morphogenesis (GO:0060325)2.91275883
93negative regulation of catenin import into nucleus (GO:0035414)2.91212576
94heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.91064060
95substrate adhesion-dependent cell spreading (GO:0034446)2.90727787
96positive regulation of cartilage development (GO:0061036)2.90458997
97protein hydroxylation (GO:0018126)2.89983443
98epoxygenase P450 pathway (GO:0019373)2.89962307
99negative regulation of BMP signaling pathway (GO:0030514)2.89091212
100negative regulation of protein localization to cell surface (GO:2000009)2.88499476
101cell migration involved in heart development (GO:0060973)2.87695708
102cellular response to amino acid stimulus (GO:0071230)2.82964314
103cell migration involved in sprouting angiogenesis (GO:0002042)2.80492591
104positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.80022699
105apoptotic cell clearance (GO:0043277)2.78491949
106convergent extension (GO:0060026)2.78082883
107regulation of collagen metabolic process (GO:0010712)2.77091660
108middle ear morphogenesis (GO:0042474)2.76933727
109endothelial cell proliferation (GO:0001935)2.75345035
110vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.75047212
111regulation of cartilage development (GO:0061035)2.74213495
112regulation of gastrulation (GO:0010470)2.73942326
113regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.73155586
114omega-hydroxylase P450 pathway (GO:0097267)2.73116039
115cellular response to interferon-alpha (GO:0035457)2.72966826
116negative regulation of endothelial cell proliferation (GO:0001937)2.72660379
117mesodermal cell differentiation (GO:0048333)2.71923243
118regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.71479257
119positive regulation of mesenchymal cell proliferation (GO:0002053)2.71392097
120regulation of chondrocyte differentiation (GO:0032330)2.70685917
121chondroitin sulfate biosynthetic process (GO:0030206)2.70329734
122adhesion of symbiont to host cell (GO:0044650)2.70123128
123virion attachment to host cell (GO:0019062)2.70123128
124cell-matrix adhesion (GO:0007160)2.68631115
125regulation of axon extension involved in axon guidance (GO:0048841)2.68627514
126negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.68245217
127negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.68209649
128adhesion of symbiont to host (GO:0044406)2.66055524
129regulation of integrin-mediated signaling pathway (GO:2001044)2.65133451
130regulation of phospholipase A2 activity (GO:0032429)2.62134095
131blood vessel remodeling (GO:0001974)2.56667336
132positive regulation of endothelial cell migration (GO:0010595)2.54677454
133negative regulation of axon guidance (GO:1902668)2.50950930
134negative regulation of smooth muscle cell migration (GO:0014912)2.50692840
135regulation of organ formation (GO:0003156)2.49639176

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.38646749
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.26241090
3PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.04086504
4TP63_17297297_ChIP-ChIP_HaCaT_Human4.03387993
5WT1_19549856_ChIP-ChIP_CCG9911_Human2.89950731
6CJUN_26792858_Chip-Seq_BT549_Human2.81075402
7CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.80167520
8* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.76391651
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.67104389
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.66201614
11* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.59918348
12TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.55080077
13EP300_21415370_ChIP-Seq_HL-1_Mouse2.34685011
14CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.32335560
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.27844234
16* BRD4_25478319_ChIP-Seq_HGPS_Human2.26726711
17NRF2_20460467_ChIP-Seq_MEFs_Mouse2.23856447
18NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.23856447
19TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.20901349
20CLOCK_20551151_ChIP-Seq_293T_Human2.17882404
21CDX2_19796622_ChIP-Seq_MESCs_Mouse2.11942837
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.02707773
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.97584104
24TP53_18474530_ChIP-ChIP_U2OS_Human1.97178813
25WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.96048026
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.92122186
27SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.83987821
28TP53_16413492_ChIP-PET_HCT116_Human1.78826584
29HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.75670915
30EZH2_18974828_ChIP-Seq_MESCs_Mouse1.71633267
31RNF2_18974828_ChIP-Seq_MESCs_Mouse1.71633267
32PPAR_26484153_Chip-Seq_NCI-H1993_Human1.71395085
33SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.68453212
34TP53_20018659_ChIP-ChIP_R1E_Mouse1.68279509
35FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.62214793
36FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.61995961
37EZH2_22144423_ChIP-Seq_EOC_Human1.61478295
38SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61120708
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60972850
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.59676993
41HIF1A_21447827_ChIP-Seq_MCF-7_Human1.58815156
42RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55271064
43EGR1_19374776_ChIP-ChIP_THP-1_Human1.50591837
44ZNF217_24962896_ChIP-Seq_MCF-7_Human1.49616528
45SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.48565626
46SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.48409101
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48218171
48SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.44811771
49SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.44811771
50SMC1_22415368_ChIP-Seq_MEFs_Mouse1.44059927
51JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44055770
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.40581766
53ESR1_21235772_ChIP-Seq_MCF-7_Human1.40069798
54JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.39178348
55TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.38382868
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.33157199
57NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.29316751
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.28605420
59SOX9_24532713_ChIP-Seq_HFSC_Mouse1.28137500
60EZH2_27294783_Chip-Seq_ESCs_Mouse1.26903209
61AR_21572438_ChIP-Seq_LNCaP_Human1.26807667
62* TP53_23651856_ChIP-Seq_MEFs_Mouse1.26180658
63P300_27058665_Chip-Seq_ZR-75-30cells_Human1.24587131
64MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.24331858
65SMAD4_21799915_ChIP-Seq_A2780_Human1.23594549
66SUZ12_27294783_Chip-Seq_ESCs_Mouse1.22689953
67JARID2_20075857_ChIP-Seq_MESCs_Mouse1.19398894
68* SOX2_20726797_ChIP-Seq_SW620_Human1.19212567
69SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.16710385
70SA1_22415368_ChIP-Seq_MEFs_Mouse1.16187186
71UBF1/2_26484160_Chip-Seq_HMECs_Human1.16042914
72GATA2_21666600_ChIP-Seq_HMVEC_Human1.15550491
73EZH2_27304074_Chip-Seq_ESCs_Mouse1.14998879
74PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.14905840
75ESR2_21235772_ChIP-Seq_MCF-7_Human1.14462568
76RING1B_27294783_Chip-Seq_ESCs_Mouse1.13743695
77FOXO3_23340844_ChIP-Seq_DLD1_Human1.13150997
78ISL1_27105846_Chip-Seq_CPCs_Mouse1.12817758
79NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12497808
80CBX2_27304074_Chip-Seq_ESCs_Mouse1.12354377
81TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09402573
82TBX20_22328084_ChIP-Seq_HEART_Mouse1.09298333
83TBX20_22080862_ChIP-Seq_HEART_Mouse1.09298333
84ELK3_25401928_ChIP-Seq_HUVEC_Human1.07995082
85SMC3_22415368_ChIP-Seq_MEFs_Mouse1.07419434
86TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06039521
87RNF2_27304074_Chip-Seq_ESCs_Mouse1.05630728
88OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05315007
89ARNT_22903824_ChIP-Seq_MCF-7_Human1.04551708
90* P300_19829295_ChIP-Seq_ESCs_Human1.03214372
91MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02785360
92BCAT_22108803_ChIP-Seq_LS180_Human1.01755310
93JARID2_20064375_ChIP-Seq_MESCs_Mouse1.01343243
94KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99464492
95ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98889519
96BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98503439
97* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.98272096
98BMI1_23680149_ChIP-Seq_NPCS_Mouse0.98224639
99NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.97345460
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96920399
101TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.96140795
102TP63_23658742_ChIP-Seq_EP156T_Human0.95803165
103RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.95314447
104SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93702311
105TCF4_18268006_ChIP-ChIP_LS174T_Human0.93495330
106BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.93023847
107NFI_21473784_ChIP-Seq_ESCs_Mouse0.92943737
108GBX2_23144817_ChIP-Seq_PC3_Human0.92004043
109* KDM2B_26808549_Chip-Seq_REH_Human0.90731703
110NR3C1_23031785_ChIP-Seq_PC12_Mouse0.90347398
111RXR_22108803_ChIP-Seq_LS180_Human0.89869704
112CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.89626301
113SMAD3_21741376_ChIP-Seq_EPCs_Human0.89528831
114DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.89305641
115UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.88477994
116TBX3_20139965_ChIP-Seq_ESCs_Mouse0.88107693
117PCGF2_27294783_Chip-Seq_ESCs_Mouse0.87898916
118PCGF2_27294783_Chip-Seq_NPCs_Mouse0.87660442
119TBX3_20139965_ChIP-Seq_MESCs_Mouse0.87632945
120SUZ12_27294783_Chip-Seq_NPCs_Mouse0.87233129
121STAT3_23295773_ChIP-Seq_U87_Human0.87130903
122WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86117878
123NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85880091
124PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.85870983
125DROSHA_22980978_ChIP-Seq_HELA_Human0.85150080
126SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.84304302
127TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.84290233
128AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83046211
129AHR_22903824_ChIP-Seq_MCF-7_Human0.82697635
130RING1B_27294783_Chip-Seq_NPCs_Mouse0.82304186
131TP53_22127205_ChIP-Seq_IMR90_Human0.82127936
132GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.82113639

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.14556803
2MP0005503_abnormal_tendon_morphology6.64415787
3MP0005275_abnormal_skin_tensile6.10531171
4MP0003279_aneurysm3.75614267
5MP0003705_abnormal_hypodermis_morpholog3.60811326
6MP0001958_emphysema3.38596782
7MP0009384_cardiac_valve_regurgitation2.80814802
8MP0004272_abnormal_basement_membrane2.72915283
9MP0005257_abnormal_intraocular_pressure2.68681081
10MP0005623_abnormal_meninges_morphology2.60579768
11MP0005508_abnormal_skeleton_morphology2.37129766
12MP0006054_spinal_hemorrhage2.25034650
13MP0003566_abnormal_cell_adhesion2.19192978
14MP0002060_abnormal_skin_morphology2.11360040
15MP0002108_abnormal_muscle_morphology2.04328173
16MP0002295_abnormal_pulmonary_circulatio2.00955876
17MP0009250_abnormal_appendicular_skeleto1.81074958
18MP0003385_abnormal_body_wall1.77637493
19MP0001542_abnormal_bone_strength1.70063538
20MP0010386_abnormal_urinary_bladder1.69616684
21MP0010352_gastrointestinal_tract_polyps1.69042682
22MP0005023_abnormal_wound_healing1.57649624
23MP0010030_abnormal_orbit_morphology1.54926035
24MP0003091_abnormal_cell_migration1.49620972
25MP0001243_abnormal_dermal_layer1.45470260
26MP0004134_abnormal_chest_morphology1.42479379
27MP0002896_abnormal_bone_mineralization1.40461553
28MP0001299_abnormal_eye_distance/1.39101103
29MP0000013_abnormal_adipose_tissue1.35325392
30MP0010368_abnormal_lymphatic_system1.34817174
31MP0005390_skeleton_phenotype1.32915225
32MP0000733_abnormal_muscle_development1.30934963
33MP0000767_abnormal_smooth_muscle1.30360981
34MP0002102_abnormal_ear_morphology1.27491031
35MP0005171_absent_coat_pigmentation1.27175755
36MP0003941_abnormal_skin_development1.25306136
37MP0003283_abnormal_digestive_organ1.25066097
38MP0009053_abnormal_anal_canal1.21023936
39MP0002932_abnormal_joint_morphology1.19993889
40MP0000534_abnormal_ureter_morphology1.17442504
41MP0000163_abnormal_cartilage_morphology1.13637327
42MP0002115_abnormal_skeleton_extremities1.13540136
43MP0001348_abnormal_lacrimal_gland1.12855076
44MP0003942_abnormal_urinary_system1.11442641
45MP0002933_joint_inflammation1.11207287
46MP0000428_abnormal_craniofacial_morphol1.08953433
47MP0002282_abnormal_trachea_morphology1.07856265
48MP0002168_other_aberrant_phenotype1.05285471
49MP0003045_fibrosis1.04681526
50MP0002113_abnormal_skeleton_development1.04455692
51MP0003755_abnormal_palate_morphology1.04013350
52MP0000569_abnormal_digit_pigmentation1.00294901
53MP0003115_abnormal_respiratory_system0.99315390
54MP0000751_myopathy0.98054411
55MP0002998_abnormal_bone_remodeling0.97612708
56MP0002877_abnormal_melanocyte_morpholog0.92886741
57MP0000003_abnormal_adipose_tissue0.88261298
58MP0009780_abnormal_chondrocyte_physiolo0.88029239
59MP0003935_abnormal_craniofacial_develop0.87651241
60MP0002233_abnormal_nose_morphology0.87477198
61MP0000432_abnormal_head_morphology0.87425163
62MP0000049_abnormal_middle_ear0.85599581
63MP0005595_abnormal_vascular_smooth0.85468359
64MP0003646_muscle_fatigue0.84625615
65MP0002109_abnormal_limb_morphology0.84599732
66MP0002160_abnormal_reproductive_system0.82880356
67MP0001879_abnormal_lymphatic_vessel0.81067955
68MP0002128_abnormal_blood_circulation0.80248112
69MP0002116_abnormal_craniofacial_bone0.79645944
70MP0003795_abnormal_bone_structure0.78688624
71MP0003937_abnormal_limbs/digits/tail_de0.77219117
72MP0002089_abnormal_postnatal_growth/wei0.76592125
73MP0002837_dystrophic_cardiac_calcinosis0.75827912
74MP0000762_abnormal_tongue_morphology0.74673131
75MP0001533_abnormal_skeleton_physiology0.74460453
76MP0004885_abnormal_endolymph0.74432115
77MP0005367_renal/urinary_system_phenotyp0.74303620
78MP0000516_abnormal_urinary_system0.74303620
79MP0005388_respiratory_system_phenotype0.73207673
80MP0002133_abnormal_respiratory_system0.73207673
81MP0005076_abnormal_cell_differentiation0.71951035
82MP0002177_abnormal_outer_ear0.71929465
83MP0002249_abnormal_larynx_morphology0.71412744
84MP0000230_abnormal_systemic_arterial0.71402266
85MP0001614_abnormal_blood_vessel0.71260200
86MP0004858_abnormal_nervous_system0.70579387
87MP0004084_abnormal_cardiac_muscle0.69981873
88MP0003448_altered_tumor_morphology0.68471618
89MP0006138_congestive_heart_failure0.68195172
90MP0001175_abnormal_lung_morphology0.65131203
91MP0005197_abnormal_uvea_morphology0.64633263
92MP0001177_atelectasis0.64152705
93MP0003950_abnormal_plasma_membrane0.63685215
94MP0000749_muscle_degeneration0.63317333
95MP0000750_abnormal_muscle_regeneration0.62368771
96MP0002111_abnormal_tail_morphology0.62118098
97MP0000759_abnormal_skeletal_muscle0.62118071
98MP0002925_abnormal_cardiovascular_devel0.62030202
99MP0008775_abnormal_heart_ventricle0.61797935
100MP0005369_muscle_phenotype0.61736933
101MP0002114_abnormal_axial_skeleton0.61308041
102MP0003300_gastrointestinal_ulcer0.61243246
103MP0005620_abnormal_muscle_contractility0.59892175
104MP0003828_pulmonary_edema0.59723045
105MP0000538_abnormal_urinary_bladder0.59625459
106MP0004087_abnormal_muscle_fiber0.59524021
107MP0004883_abnormal_blood_vessel0.59072023
108MP0005330_cardiomyopathy0.58087411
109MP0005164_abnormal_response_to0.57511538
110* MP0005193_abnormal_anterior_eye0.56694476
111MP0001915_intracranial_hemorrhage0.53964917
112MP0004233_abnormal_muscle_weight0.53723247
113MP0003878_abnormal_ear_physiology0.53277371
114MP0005377_hearing/vestibular/ear_phenot0.53277371
115MP0004145_abnormal_muscle_electrophysio0.51522692
116MP0000343_altered_response_to0.50346132
117MP0001661_extended_life_span0.50264445
118MP0002092_abnormal_eye_morphology0.45400336
119MP0000026_abnormal_inner_ear0.45136941

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.55679665
2Premature rupture of membranes (HP:0001788)8.86336009
3Aortic dissection (HP:0002647)5.64608147
4Shallow orbits (HP:0000586)5.16486476
5Peritonitis (HP:0002586)5.06987328
6Soft skin (HP:0000977)5.04466734
7Atrophic scars (HP:0001075)5.00265438
8Broad metatarsal (HP:0001783)4.74355450
9Aortic aneurysm (HP:0004942)4.66442637
10Bladder diverticulum (HP:0000015)4.61730739
11Dilatation of the ascending aorta (HP:0005111)4.45209159
12Fragile skin (HP:0001030)4.39141361
13Abnormality of dentin (HP:0010299)4.35687388
14Ankle contracture (HP:0006466)4.35223941
15Neonatal short-limb short stature (HP:0008921)4.16813534
16Genu recurvatum (HP:0002816)4.04707894
17Cerebral aneurysm (HP:0004944)4.02066783
18Biconcave vertebral bodies (HP:0004586)3.87167318
19Mitral valve prolapse (HP:0001634)3.85671932
20Cervical subluxation (HP:0003308)3.78599425
21Wormian bones (HP:0002645)3.66910735
22Blue sclerae (HP:0000592)3.60622574
23Vertebral compression fractures (HP:0002953)3.56933963
24Absent frontal sinuses (HP:0002688)3.48045690
25Bowel diverticulosis (HP:0005222)3.30866633
26Vascular tortuosity (HP:0004948)3.25937097
27Wrist flexion contracture (HP:0001239)3.17937384
28Hyperextensible skin (HP:0000974)3.13411462
29Follicular hyperkeratosis (HP:0007502)3.09280217
30Spinal rigidity (HP:0003306)3.04953299
31Abnormal delivery (HP:0001787)3.02305935
32Infantile muscular hypotonia (HP:0008947)2.97315816
33Ectopia lentis (HP:0001083)2.86581874
34Overgrowth (HP:0001548)2.85260475
35Type 1 muscle fiber predominance (HP:0003803)2.83206018
36Keratoconus (HP:0000563)2.80369069
37Increased corneal curvature (HP:0100692)2.80369069
38Wide anterior fontanel (HP:0000260)2.71610111
39Mitral regurgitation (HP:0001653)2.70987622
40Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.67806003
41Abnormality of the acetabulum (HP:0003170)2.62241632
42Increased connective tissue (HP:0009025)2.60328488
43Spondylolisthesis (HP:0003302)2.59448127
44Camptodactyly of toe (HP:0001836)2.54870537
45Joint laxity (HP:0001388)2.54744039
46Round ear (HP:0100830)2.52435506
47Thin bony cortex (HP:0002753)2.51018455
48Abnormality of the frontal sinuses (HP:0002687)2.50680765
49Aneurysm (HP:0002617)2.50464311
50Broad ribs (HP:0000885)2.49594544
51Radial bowing (HP:0002986)2.44752878
52Elbow flexion contracture (HP:0002987)2.43270871
53Breech presentation (HP:0001623)2.39178956
54Osteolytic defects of the phalanges of the hand (HP:0009771)2.36843848
55Osteolytic defects of the hand bones (HP:0009699)2.36843848
56Deviation of the hallux (HP:0010051)2.31339421
57Hallux valgus (HP:0001822)2.29020667
58Bell-shaped thorax (HP:0001591)2.28997128
59Metaphyseal dysplasia (HP:0100255)2.28880559
60Arterial tortuosity (HP:0005116)2.28404816
61Cardiovascular calcification (HP:0011915)2.28182171
62Morphological abnormality of the middle ear (HP:0008609)2.27378154
63Ovoid vertebral bodies (HP:0003300)2.25346119
64Ulnar bowing (HP:0003031)2.22261571
65Abnormality of the peritoneum (HP:0002585)2.21485788
66Knee flexion contracture (HP:0006380)2.19390065
67Slender build (HP:0001533)2.19130915
68Mesomelia (HP:0003027)2.18338163
69Mild short stature (HP:0003502)2.15319725
70Nonimmune hydrops fetalis (HP:0001790)2.15142898
71Increased variability in muscle fiber diameter (HP:0003557)2.13779299
72Mildly elevated creatine phosphokinase (HP:0008180)2.12152284
73Buphthalmos (HP:0000557)2.11909097
74Irregular vertebral endplates (HP:0003301)2.11806405
75Aortic regurgitation (HP:0001659)2.11527212
76Tibial bowing (HP:0002982)2.10423598
77Osteoarthritis (HP:0002758)2.09963844
78Venous insufficiency (HP:0005293)2.09323368
79Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.08609856
80Venous abnormality (HP:0002624)2.07592274
81Persistence of primary teeth (HP:0006335)2.07384221
82Spinal cord lesions (HP:0100561)2.06041229
83Syringomyelia (HP:0003396)2.06041229
84Bowing of the arm (HP:0006488)2.05144053
85Bowed forearm bones (HP:0003956)2.05144053
86Coronal craniosynostosis (HP:0004440)2.04572804
87Disproportionate tall stature (HP:0001519)2.03459831
88Femoral bowing (HP:0002980)2.02812646
89Microglossia (HP:0000171)2.02787288
90Decreased skull ossification (HP:0004331)2.01960865
91Broad long bones (HP:0005622)2.00003485
92Osteopenia (HP:0000938)1.98948436
93Striae distensae (HP:0001065)1.98162245
94Inguinal hernia (HP:0000023)1.95665563
95Hypoventilation (HP:0002791)1.95606317
96Flexion contracture of toe (HP:0005830)1.93766252
97Joint contractures involving the joints of the feet (HP:0100492)1.93766252
98Cupped ribs (HP:0000887)1.92752919
99Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.91852730
100Short 4th metacarpal (HP:0010044)1.91852730
101Abnormality of the anterior chamber (HP:0000593)1.91828509
102Flared iliac wings (HP:0002869)1.90397311
103Mitral stenosis (HP:0001718)1.89806443
104Congenital glaucoma (HP:0001087)1.88850467
105Hip contracture (HP:0003273)1.88736750
106Short nail (HP:0001799)1.87777027
107Asymmetry of the thorax (HP:0001555)1.87429942
108Thin skin (HP:0000963)1.86403856
109Abnormality of skeletal muscle fiber size (HP:0012084)1.84701776
110Abnormality of skull ossification (HP:0002703)1.83060527
111Aortic valve stenosis (HP:0001650)1.82308633
112Flat cornea (HP:0007720)1.82173168
113Redundant skin (HP:0001582)1.79648085
114Abnormality of the vertebral endplates (HP:0005106)1.79463479
115Limited hip movement (HP:0008800)1.79454691
116Spinal cord compression (HP:0002176)1.77768026
117Right ventricular cardiomyopathy (HP:0011663)1.77599961
118Joint stiffness (HP:0001387)1.77005153
119Hypoplasia of the iris (HP:0007676)1.76887536
120Coxa vara (HP:0002812)1.74975987
121Renal duplication (HP:0000075)1.74657702
122Delayed closure of the anterior fontanelle (HP:0001476)1.74622371
123Hypoplastic ischia (HP:0003175)1.73610507
124Delayed cranial suture closure (HP:0000270)1.72409462

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.24538578
2TTN4.21190962
3PDGFRA3.80192425
4TIE13.67151487
5EPHA33.57140223
6LATS13.52178765
7SIK12.92429806
8TRIB32.85514967
9LATS22.61063567
10EPHB22.57546182
11PAK22.24082913
12PAK32.15874411
13TRPM72.14702714
14FER2.10183622
15DMPK2.05687644
16PIK3CA1.93794303
17PKN21.89082808
18ERN11.80062204
19RIPK11.77782965
20FRK1.73430244
21PTK21.66080897
22STK31.64089979
23MYLK1.61896079
24TGFBR21.60616299
25STK38L1.53806275
26NEK91.47559100
27PTK2B1.44287048
28ERBB31.42562079
29ROCK11.36410534
30PLK21.34756246
31BMX1.34004728
32PIM21.31376337
33PDGFRB1.27984045
34FGFR11.25532134
35MET1.22237056
36NUAK11.18889336
37ADRBK21.17359313
38WNK41.16204957
39RPS6KA21.16133138
40GRK11.15753180
41CASK1.10305259
42PAK41.09846683
43MAP3K61.06617270
44MAPK71.06599714
45MUSK1.06453074
46PTK61.03715011
47TESK11.03232318
48LRRK20.99807053
49ZAK0.99662064
50PRKCH0.99434248
51NTRK10.99196888
52MTOR0.97106243
53PRKD20.95897468
54JAK10.95075282
55PIK3CG0.94436227
56EPHA20.94376730
57ROCK20.90266520
58LIMK10.88863279
59FGFR20.88724753
60MOS0.86311970
61BMPR1B0.86308405
62INSR0.77953748
63ILK0.75011357
64RPS6KA40.74820382
65CDC42BPA0.72965211
66EPHB10.69941882
67MARK10.69397108
68PRKD10.67761948
69AKT30.66385835
70ADRBK10.65586756
71INSRR0.61653018
72KIT0.60899662
73CAMK2B0.60284624
74PRKCE0.59804399
75MAP3K120.58998605
76PINK10.58067711
77FLT30.57631112
78CDK60.56145795
79GRK70.55517783
80PRKD30.54942021
81ABL20.54900911
82WNK10.54745611
83FGFR30.54154838
84CDK80.53714922
85DAPK30.53492427
86RET0.52639325
87TEC0.52536856
88MAP2K10.52310430
89DYRK1B0.51639784
90MAPKAPK30.51082962
91SRC0.48040194
92RPS6KA60.46248784
93MELK0.45436301
94MAP3K70.43802986
95SGK20.43008884
96PRKG20.42495730
97CAMK2G0.40357937
98MARK20.38155236
99PRKCG0.36827933
100CAMK2D0.36204320
101IGF1R0.36186869
102SGK2230.35599402
103SGK4940.35599402
104MAP3K30.35502407
105GRK50.35445894
106CAMK2A0.35202400
107CAMK1D0.35049862
108MAPKAPK50.34461531
109CAMK10.33956669
110RPS6KC10.32805745
111RPS6KL10.32805745
112LMTK20.32327768
113MAPK10.31138507
114STK240.29005048
115ABL10.28809129
116SGK30.28776911
117SCYL20.28412860
118PAK10.28190212
119MST1R0.27978054
120CAMK1G0.27873611
121PRKCD0.27238563
122FGFR40.26912278
123ERBB40.26076954
124TGFBR10.25990298
125ERBB20.25888308
126CDK140.24779089
127FYN0.22757472
128GSK3A0.22509438
129CSF1R0.21125283
130MAP3K100.19861802
131CAMKK10.19239497
132CHUK0.17789215
133CDK150.17480879
134EIF2AK20.17094777
135PLK30.15897250
136PAK60.15692084
137STK380.14887231

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.76207317
2Focal adhesion_Homo sapiens_hsa045103.35935944
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.73708144
4Protein digestion and absorption_Homo sapiens_hsa049742.69727297
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.69287573
6Dilated cardiomyopathy_Homo sapiens_hsa054142.62478776
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.49491329
8Malaria_Homo sapiens_hsa051442.48891274
9Amoebiasis_Homo sapiens_hsa051462.47657465
10AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.45239779
11Proteoglycans in cancer_Homo sapiens_hsa052052.40174892
12TGF-beta signaling pathway_Homo sapiens_hsa043502.17215738
13Adherens junction_Homo sapiens_hsa045202.10146596
14Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.96360869
15Bladder cancer_Homo sapiens_hsa052191.96325270
16Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.94591418
17Hippo signaling pathway_Homo sapiens_hsa043901.82808255
18MicroRNAs in cancer_Homo sapiens_hsa052061.80844623
19Small cell lung cancer_Homo sapiens_hsa052221.79635489
20PI3K-Akt signaling pathway_Homo sapiens_hsa041511.77096077
21Melanoma_Homo sapiens_hsa052181.57517894
22Basal cell carcinoma_Homo sapiens_hsa052171.55547229
23Regulation of actin cytoskeleton_Homo sapiens_hsa048101.53896686
24Chronic myeloid leukemia_Homo sapiens_hsa052201.42266116
25p53 signaling pathway_Homo sapiens_hsa041151.40584619
26Viral myocarditis_Homo sapiens_hsa054161.31914167
27Hedgehog signaling pathway_Homo sapiens_hsa043401.26156377
28Wnt signaling pathway_Homo sapiens_hsa043101.25494148
29Leukocyte transendothelial migration_Homo sapiens_hsa046701.23992518
30Axon guidance_Homo sapiens_hsa043601.23635247
31Sulfur metabolism_Homo sapiens_hsa009201.21924295
32Platelet activation_Homo sapiens_hsa046111.20461030
33Glioma_Homo sapiens_hsa052141.18747321
34Prostate cancer_Homo sapiens_hsa052151.16554212
35Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.15346482
36Pathways in cancer_Homo sapiens_hsa052001.13498294
37Rap1 signaling pathway_Homo sapiens_hsa040151.12576239
38Pancreatic cancer_Homo sapiens_hsa052121.11798531
39Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07525805
40Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.04945740
41Shigellosis_Homo sapiens_hsa051310.98865112
42Tight junction_Homo sapiens_hsa045300.95367547
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.94871392
44Toxoplasmosis_Homo sapiens_hsa051450.92921831
45Melanogenesis_Homo sapiens_hsa049160.92141655
46Phagosome_Homo sapiens_hsa041450.91352988
47TNF signaling pathway_Homo sapiens_hsa046680.87959098
48Dorso-ventral axis formation_Homo sapiens_hsa043200.87897316
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.83566722
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83308393
51Cocaine addiction_Homo sapiens_hsa050300.83297642
52HTLV-I infection_Homo sapiens_hsa051660.83116731
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82339478
54Colorectal cancer_Homo sapiens_hsa052100.78964839
55Gap junction_Homo sapiens_hsa045400.75907923
56Renal cell carcinoma_Homo sapiens_hsa052110.74452021
57Ovarian steroidogenesis_Homo sapiens_hsa049130.73761020
58Selenocompound metabolism_Homo sapiens_hsa004500.73746174
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.73640150
60Ras signaling pathway_Homo sapiens_hsa040140.71245894
61Hepatitis B_Homo sapiens_hsa051610.70951044
62Salmonella infection_Homo sapiens_hsa051320.70932537
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.70492795
64Phototransduction_Homo sapiens_hsa047440.69204138
65Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.68051706
66Estrogen signaling pathway_Homo sapiens_hsa049150.67376723
67Nitrogen metabolism_Homo sapiens_hsa009100.66583961
68Renin-angiotensin system_Homo sapiens_hsa046140.66415494
69FoxO signaling pathway_Homo sapiens_hsa040680.64379765
70Glutamatergic synapse_Homo sapiens_hsa047240.64188346
71Renin secretion_Homo sapiens_hsa049240.63866663
72Cholinergic synapse_Homo sapiens_hsa047250.62008887
73Complement and coagulation cascades_Homo sapiens_hsa046100.60970413
74cGMP-PKG signaling pathway_Homo sapiens_hsa040220.60703506
75Insulin secretion_Homo sapiens_hsa049110.60305267
76Morphine addiction_Homo sapiens_hsa050320.60188557
77Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.60170463
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60095063
79Thyroid hormone synthesis_Homo sapiens_hsa049180.59556872
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59249016
81Calcium signaling pathway_Homo sapiens_hsa040200.58996767
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58352730
83HIF-1 signaling pathway_Homo sapiens_hsa040660.58280169
84Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58039320
85GnRH signaling pathway_Homo sapiens_hsa049120.57465685
86Endometrial cancer_Homo sapiens_hsa052130.57266698
87Leishmaniasis_Homo sapiens_hsa051400.56719775
88cAMP signaling pathway_Homo sapiens_hsa040240.56292469
89Serotonergic synapse_Homo sapiens_hsa047260.56282342
90Phospholipase D signaling pathway_Homo sapiens_hsa040720.56225950
91Endocytosis_Homo sapiens_hsa041440.56040711
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55954087
93Pancreatic secretion_Homo sapiens_hsa049720.54842080
94Central carbon metabolism in cancer_Homo sapiens_hsa052300.53713734
95Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.52864456
96MAPK signaling pathway_Homo sapiens_hsa040100.52276809
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.52123175
98Apoptosis_Homo sapiens_hsa042100.48266073
99Circadian rhythm_Homo sapiens_hsa047100.47709937
100alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.47185533
101Glycosaminoglycan degradation_Homo sapiens_hsa005310.46395206
102mTOR signaling pathway_Homo sapiens_hsa041500.46088472
103Circadian entrainment_Homo sapiens_hsa047130.45773256
104Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.45334383
105Insulin resistance_Homo sapiens_hsa049310.44706339
106Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.44462359
107Viral carcinogenesis_Homo sapiens_hsa052030.44397272
108Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44265582
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43023912
110Protein export_Homo sapiens_hsa030600.42452055
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42072021
112N-Glycan biosynthesis_Homo sapiens_hsa005100.40249040
113Notch signaling pathway_Homo sapiens_hsa043300.40081925
114Dopaminergic synapse_Homo sapiens_hsa047280.39876316
115Gastric acid secretion_Homo sapiens_hsa049710.39734827
116ErbB signaling pathway_Homo sapiens_hsa040120.39523005
117Oxytocin signaling pathway_Homo sapiens_hsa049210.39012958
118GABAergic synapse_Homo sapiens_hsa047270.36974778
119Osteoclast differentiation_Homo sapiens_hsa043800.35224603
120Arachidonic acid metabolism_Homo sapiens_hsa005900.34725545
121Salivary secretion_Homo sapiens_hsa049700.33712437
122AMPK signaling pathway_Homo sapiens_hsa041520.33641420
123Prion diseases_Homo sapiens_hsa050200.32203649
124Thyroid cancer_Homo sapiens_hsa052160.31992879
125Pertussis_Homo sapiens_hsa051330.31878847
126Lysosome_Homo sapiens_hsa041420.31497082
127Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.31362666
128Sulfur relay system_Homo sapiens_hsa041220.30941022
129Cardiac muscle contraction_Homo sapiens_hsa042600.30762131
130Olfactory transduction_Homo sapiens_hsa047400.29779457
131Tuberculosis_Homo sapiens_hsa051520.28617951
132Lysine degradation_Homo sapiens_hsa003100.27700539
133Rheumatoid arthritis_Homo sapiens_hsa053230.27532295
134Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27326107
135Non-small cell lung cancer_Homo sapiens_hsa052230.27312158
136Insulin signaling pathway_Homo sapiens_hsa049100.27214420

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