COL1A1

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 the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, 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)8.59626638
2* collagen fibril organization (GO:0030199)8.05023033
3chondrocyte proliferation (GO:0035988)6.35173035
4sequestering of extracellular ligand from receptor (GO:0035581)6.27105982
5endodermal cell differentiation (GO:0035987)6.16445417
6* collagen metabolic process (GO:0032963)5.67551304
7* collagen catabolic process (GO:0030574)5.63117084
8* bone trabecula formation (GO:0060346)5.32694604
9* multicellular organismal macromolecule metabolic process (GO:0044259)5.30253643
10neuron projection extension involved in neuron projection guidance (GO:1902284)5.26745670
11axon extension involved in axon guidance (GO:0048846)5.26745670
12* multicellular organismal catabolic process (GO:0044243)5.15132819
13extracellular fibril organization (GO:0043206)4.99265255
14* multicellular organismal metabolic process (GO:0044236)4.97997392
15* skin morphogenesis (GO:0043589)4.94890845
16* extracellular matrix disassembly (GO:0022617)4.65354827
17wound healing, spreading of epidermal cells (GO:0035313)4.64272984
18positive regulation of endothelial cell apoptotic process (GO:2000353)4.63890930
19type B pancreatic cell proliferation (GO:0044342)4.60378080
20negative regulation of fatty acid transport (GO:2000192)4.58592492
21fibril organization (GO:0097435)4.52775059
22cell adhesion mediated by integrin (GO:0033627)4.43984422
23regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.39512960
24dermatan sulfate biosynthetic process (GO:0030208)4.34510303
25cellular response to vitamin D (GO:0071305)4.25202755
26metanephric mesenchyme development (GO:0072075)4.23486327
27mesenchymal-epithelial cell signaling (GO:0060638)4.19446400
28planar cell polarity pathway involved in neural tube closure (GO:0090179)4.16824993
29virion attachment to host cell (GO:0019062)4.15384429
30extracellular matrix assembly (GO:0085029)4.12630838
31craniofacial suture morphogenesis (GO:0097094)4.12460154
32cellular response to vitamin (GO:0071295)4.03540260
33peptidyl-proline hydroxylation (GO:0019511)3.97580345
34regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.96521768
35dermatan sulfate metabolic process (GO:0030205)3.93903478
36kidney mesenchyme development (GO:0072074)3.93379945
37negative regulation of chondrocyte differentiation (GO:0032331)3.89965325
38basement membrane organization (GO:0071711)3.88093297
39outer ear morphogenesis (GO:0042473)3.74209512
40wound healing, spreading of cells (GO:0044319)3.69582004
41chondrocyte development (GO:0002063)3.65004134
42cell migration involved in heart development (GO:0060973)3.64220016
43apoptotic cell clearance (GO:0043277)3.61896195
44epithelial cell-cell adhesion (GO:0090136)3.60071516
45vascular endothelial growth factor signaling pathway (GO:0038084)3.58674226
46extracellular regulation of signal transduction (GO:1900115)3.55927347
47extracellular negative regulation of signal transduction (GO:1900116)3.55927347
48G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.55338860
49negative regulation of embryonic development (GO:0045992)3.51426803
50* extracellular matrix organization (GO:0030198)3.51283194
51adhesion of symbiont to host (GO:0044406)3.50793994
52* extracellular structure organization (GO:0043062)3.49898587
53embryonic cranial skeleton morphogenesis (GO:0048701)3.49063876
54* cellular response to amino acid stimulus (GO:0071230)3.42383300
55cell proliferation involved in metanephros development (GO:0072203)3.41071978
56protein hydroxylation (GO:0018126)3.40307616
57plasma membrane repair (GO:0001778)3.38716511
58negative regulation of cartilage development (GO:0061037)3.26815152
59positive regulation of osteoblast proliferation (GO:0033690)3.26708225
60blood vessel maturation (GO:0001955)3.24774483
61regulation of tight junction assembly (GO:2000810)3.21372110
62substrate-dependent cell migration (GO:0006929)3.19718765
63keratan sulfate catabolic process (GO:0042340)3.19625682
64stress fiber assembly (GO:0043149)3.18346759
65* cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.17911058
66cochlea morphogenesis (GO:0090103)3.17843359
67retina vasculature morphogenesis in camera-type eye (GO:0061299)3.15629912
68regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.15586184
69middle ear morphogenesis (GO:0042474)3.15320481
70glomerular basement membrane development (GO:0032836)3.13609003
71cell migration involved in sprouting angiogenesis (GO:0002042)3.12673598
72venous blood vessel morphogenesis (GO:0048845)3.11630694
73heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.11351898
74peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.09984520
75cranial suture morphogenesis (GO:0060363)3.08581360
76hippo signaling (GO:0035329)3.07209314
77barbed-end actin filament capping (GO:0051016)3.06498994
78regulation of gastrulation (GO:0010470)3.05098076
79cell-substrate junction assembly (GO:0007044)3.02492657
80protein localization to cell surface (GO:0034394)3.00872135
81* positive regulation of epithelial to mesenchymal transition (GO:0010718)2.99492714
82negative regulation of axon extension involved in axon guidance (GO:0048843)2.96053435
83negative regulation of focal adhesion assembly (GO:0051895)2.95886429
84negative regulation of cell junction assembly (GO:1901889)2.95886429
85negative regulation of adherens junction organization (GO:1903392)2.95886429
86polarized epithelial cell differentiation (GO:0030859)2.95708036
87negative regulation of smooth muscle cell migration (GO:0014912)2.95065244
88negative regulation of catenin import into nucleus (GO:0035414)2.95042376
89insulin-like growth factor receptor signaling pathway (GO:0048009)2.94698486
90glial cell migration (GO:0008347)2.93745080
91anatomical structure regression (GO:0060033)2.93744481
92Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.93412421
93substrate adhesion-dependent cell spreading (GO:0034446)2.93042025
94chondroitin sulfate biosynthetic process (GO:0030206)2.90741062
95positive regulation of extracellular matrix organization (GO:1903055)2.88893691
96eye morphogenesis (GO:0048592)2.88339748
97smooth muscle tissue development (GO:0048745)2.87598749
98positive regulation of fibroblast migration (GO:0010763)2.87163012
99regulation of establishment of planar polarity (GO:0090175)2.86419701
100regulation of cartilage development (GO:0061035)2.86357326
101positive regulation of blood vessel endothelial cell migration (GO:0043536)2.85398386
102COPI coating of Golgi vesicle (GO:0048205)2.85289507
103Golgi transport vesicle coating (GO:0048200)2.85289507
104endocardial cushion development (GO:0003197)2.84739800
105positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.84613981
106regulation of extracellular matrix disassembly (GO:0010715)2.84185661
107cellular response to interferon-alpha (GO:0035457)2.82371479
108camera-type eye morphogenesis (GO:0048593)2.79354398
109response to fluid shear stress (GO:0034405)2.79165699
110regulation of axon extension involved in axon guidance (GO:0048841)2.79088697
111vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.79059994
112negative regulation of BMP signaling pathway (GO:0030514)2.79047750
113pericardium development (GO:0060039)2.78831903
114adherens junction assembly (GO:0034333)2.78231334
115negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.78113903
116heparan sulfate proteoglycan metabolic process (GO:0030201)2.78101705
117muscle cell migration (GO:0014812)2.77692054
118protein retention in ER lumen (GO:0006621)2.77644772
119establishment of planar polarity (GO:0001736)2.77359789
120establishment of tissue polarity (GO:0007164)2.77359789
121maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.77249508
122endothelial cell morphogenesis (GO:0001886)2.76821391
123wound healing (GO:0042060)2.76083037
124glomerular filtration (GO:0003094)2.75681460
125positive regulation of mesenchymal cell proliferation (GO:0002053)2.75657862
126adhesion of symbiont to host cell (GO:0044650)2.74615790
127atrioventricular valve morphogenesis (GO:0003181)2.74499006
128positive regulation of cartilage development (GO:0061036)2.72274424
129regulation of plasminogen activation (GO:0010755)2.70828438
130regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.70608338
131regulation of osteoblast proliferation (GO:0033688)2.69027903
132cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.68403335

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.75046747
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.75069341
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse4.74208200
4* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.27133215
5* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.34146091
6* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.14807281
7CLOCK_20551151_ChIP-Seq_293T_Human3.07095319
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.75096434
9CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.64030157
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.54164784
11CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.52657919
12WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.49796232
13CJUN_26792858_Chip-Seq_BT549_Human2.42544913
14* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.28982857
15* BRD4_25478319_ChIP-Seq_HGPS_Human2.25446588
16* WT1_19549856_ChIP-ChIP_CCG9911_Human2.22484512
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.21651340
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.20298688
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.11354988
20ELK3_25401928_ChIP-Seq_HUVEC_Human2.10674938
21HIF1A_21447827_ChIP-Seq_MCF-7_Human2.00894838
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.89410524
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.80586598
24TP53_20018659_ChIP-ChIP_R1E_Mouse1.77227118
25* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.76190435
26* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.72426789
27NRF2_20460467_ChIP-Seq_MEFs_Mouse1.71916877
28NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.71916877
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.67369956
30EZH2_18974828_ChIP-Seq_MESCs_Mouse1.59439486
31RNF2_18974828_ChIP-Seq_MESCs_Mouse1.59439486
32STAT6_21828071_ChIP-Seq_BEAS2B_Human1.56965252
33UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.55856435
34SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.53809232
35* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.52253015
36ESR1_15608294_ChIP-ChIP_MCF-7_Human1.50586941
37* TP53_22127205_ChIP-Seq_IMR90_Human1.49679048
38SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.49311838
39SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.49311838
40KDM2B_26808549_Chip-Seq_SUP-B15_Human1.46710481
41PPAR_26484153_Chip-Seq_NCI-H1993_Human1.46352099
42ESR2_21235772_ChIP-Seq_MCF-7_Human1.44627095
43HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.43719528
44MTF2_20144788_ChIP-Seq_MESCs_Mouse1.43327193
45SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.43091362
46* ATF3_27146783_Chip-Seq_COLON_Human1.41659476
47* TP53_23651856_ChIP-Seq_MEFs_Mouse1.41397868
48SMAD_19615063_ChIP-ChIP_OVARY_Human1.40055519
49* UBF1/2_26484160_Chip-Seq_HMECs_Human1.38845986
50SOX9_24532713_ChIP-Seq_HFSC_Mouse1.38680919
51SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.37259835
52* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36650520
53SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.33482296
54* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.33405300
55SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.33289594
56* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.32436201
57NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.31372805
58TP53_16413492_ChIP-PET_HCT116_Human1.30427423
59LXR_22292898_ChIP-Seq_THP-1_Human1.30316667
60ESR1_21235772_ChIP-Seq_MCF-7_Human1.30043111
61ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.30017054
62ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.29659583
63SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29338519
64* TP53_18474530_ChIP-ChIP_U2OS_Human1.28061813
65DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.27808707
66PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27145358
67ISL1_27105846_Chip-Seq_CPCs_Mouse1.25076321
68* RACK7_27058665_Chip-Seq_MCF-7_Human1.24338522
69RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23175732
70KDM2B_26808549_Chip-Seq_K562_Human1.22924924
71* SA1_22415368_ChIP-Seq_MEFs_Mouse1.22540034
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22297641
73SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.21318979
74* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.20969130
75TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.20040139
76ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.18999785
77RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.18425777
78GATA2_21666600_ChIP-Seq_HMVEC_Human1.17412352
79TBX20_22328084_ChIP-Seq_HEART_Mouse1.17353144
80TBX20_22080862_ChIP-Seq_HEART_Mouse1.17353144
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.17187188
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16892421
83JARID2_20075857_ChIP-Seq_MESCs_Mouse1.16524839
84RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15949809
85JARID2_20064375_ChIP-Seq_MESCs_Mouse1.15124164
86SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.14781302
87NFIB_24661679_ChIP-Seq_LUNG_Mouse1.14722795
88MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.13848388
89KDM2B_26808549_Chip-Seq_DND41_Human1.13173910
90P63_26484246_Chip-Seq_KERATINOCYTES_Human1.12588452
91SOX2_20726797_ChIP-Seq_SW620_Human1.10461944
92KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09151673
93TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07604164
94ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07070234
95FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.06983619
96TET1_21490601_ChIP-Seq_MESCs_Mouse1.04332323
97CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.03929151
98EZH2_27294783_Chip-Seq_ESCs_Mouse1.03491606
99* KDM2B_26808549_Chip-Seq_JURKAT_Human1.01896464
100WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01358896
101RING1B_27294783_Chip-Seq_ESCs_Mouse1.00156558
102FOXO3_23340844_ChIP-Seq_DLD1_Human0.99873565
103TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99806852
104SUZ12_27294783_Chip-Seq_ESCs_Mouse0.99736092
105CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99391489
106MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.97454636
107EZH2_27304074_Chip-Seq_ESCs_Mouse0.96788167
108* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.95605341
109SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94927751
110KLF5_25053715_ChIP-Seq_YYC3_Human0.94546971
111SALL4_18804426_ChIP-ChIP_XEN_Mouse0.93838186
112EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93451976
113DROSHA_22980978_ChIP-Seq_HELA_Human0.93260042
114NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.93140484
115ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.92913100
116ERG_21242973_ChIP-ChIP_JURKAT_Human0.92620547
117RNF2_27304074_Chip-Seq_ESCs_Mouse0.91547440
118POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.86964466

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.49880297
2MP0005275_abnormal_skin_tensile6.17059101
3MP0005503_abnormal_tendon_morphology6.03387929
4MP0003705_abnormal_hypodermis_morpholog4.24059881
5* MP0003279_aneurysm3.70733922
6MP0001958_emphysema3.43073801
7MP0004272_abnormal_basement_membrane2.96825733
8MP0005623_abnormal_meninges_morphology2.63929553
9MP0009384_cardiac_valve_regurgitation2.50503110
10MP0002060_abnormal_skin_morphology2.45265858
11* MP0005508_abnormal_skeleton_morphology2.29873002
12MP0010030_abnormal_orbit_morphology2.15607682
13MP0003566_abnormal_cell_adhesion2.08311034
14* MP0001542_abnormal_bone_strength1.95476476
15MP0002108_abnormal_muscle_morphology1.95330599
16MP0005023_abnormal_wound_healing1.89099972
17MP0003385_abnormal_body_wall1.86250509
18* MP0001243_abnormal_dermal_layer1.81019983
19MP0003091_abnormal_cell_migration1.70941207
20MP0010352_gastrointestinal_tract_polyps1.70792411
21* MP0002896_abnormal_bone_mineralization1.70091198
22* MP0009250_abnormal_appendicular_skeleto1.69220727
23MP0003283_abnormal_digestive_organ1.54594889
24* MP0002295_abnormal_pulmonary_circulatio1.51240781
25MP0001348_abnormal_lacrimal_gland1.41577016
26MP0000767_abnormal_smooth_muscle1.38377983
27MP0000733_abnormal_muscle_development1.38105716
28MP0002282_abnormal_trachea_morphology1.34429902
29MP0001299_abnormal_eye_distance/1.33797666
30* MP0005390_skeleton_phenotype1.33676953
31MP0003950_abnormal_plasma_membrane1.32816723
32MP0009053_abnormal_anal_canal1.32353382
33MP0004858_abnormal_nervous_system1.31709980
34* MP0002115_abnormal_skeleton_extremities1.28169460
35MP0000428_abnormal_craniofacial_morphol1.25868416
36MP0000163_abnormal_cartilage_morphology1.24746125
37MP0000751_myopathy1.22594872
38MP0003115_abnormal_respiratory_system1.16875834
39* MP0002932_abnormal_joint_morphology1.15479698
40MP0002933_joint_inflammation1.14420177
41MP0003942_abnormal_urinary_system1.12410859
42MP0003755_abnormal_palate_morphology1.10322509
43MP0000534_abnormal_ureter_morphology1.06805174
44* MP0002113_abnormal_skeleton_development1.06793519
45MP0000049_abnormal_middle_ear1.06399749
46MP0005076_abnormal_cell_differentiation1.04941209
47* MP0002998_abnormal_bone_remodeling1.04935574
48MP0002254_reproductive_system_inflammat1.03541643
49MP0003045_fibrosis0.98091283
50MP0002168_other_aberrant_phenotype0.97178472
51MP0002877_abnormal_melanocyte_morpholog0.96836511
52MP0010386_abnormal_urinary_bladder0.96500668
53MP0002249_abnormal_larynx_morphology0.93581398
54* MP0003795_abnormal_bone_structure0.86786375
55MP0001879_abnormal_lymphatic_vessel0.86723242
56MP0002089_abnormal_postnatal_growth/wei0.86682223
57* MP0002109_abnormal_limb_morphology0.86110811
58MP0003935_abnormal_craniofacial_develop0.85184018
59* MP0004134_abnormal_chest_morphology0.85001135
60* MP0002116_abnormal_craniofacial_bone0.84790899
61MP0000749_muscle_degeneration0.84189600
62MP0003122_maternal_imprinting0.83647226
63MP0004185_abnormal_adipocyte_glucose0.83358975
64MP0001533_abnormal_skeleton_physiology0.83087312
65MP0000762_abnormal_tongue_morphology0.82410998
66* MP0000432_abnormal_head_morphology0.82085121
67MP0003941_abnormal_skin_development0.81618192
68* MP0002128_abnormal_blood_circulation0.79778486
69* MP0006054_spinal_hemorrhage0.79260463
70MP0002111_abnormal_tail_morphology0.78321032
71MP0005171_absent_coat_pigmentation0.78231870
72MP0000750_abnormal_muscle_regeneration0.76497611
73MP0003937_abnormal_limbs/digits/tail_de0.76388818
74MP0010368_abnormal_lymphatic_system0.75241029
75* MP0001614_abnormal_blood_vessel0.74984773
76MP0005595_abnormal_vascular_smooth0.73965178
77MP0010771_integument_phenotype0.73136520
78* MP0005257_abnormal_intraocular_pressure0.69857078
79MP0000538_abnormal_urinary_bladder0.68540134
80* MP0002114_abnormal_axial_skeleton0.67958875
81MP0000759_abnormal_skeletal_muscle0.67663698
82MP0001175_abnormal_lung_morphology0.65702160
83MP0003300_gastrointestinal_ulcer0.65593855
84MP0002925_abnormal_cardiovascular_devel0.65534292
85MP0003448_altered_tumor_morphology0.64895736
86* MP0002233_abnormal_nose_morphology0.64342822
87MP0000537_abnormal_urethra_morphology0.64102771
88MP0009278_abnormal_bone_marrow0.62659515
89MP0005164_abnormal_response_to0.60658424
90MP0001177_atelectasis0.60555759
91MP0002133_abnormal_respiratory_system0.60253895
92MP0005388_respiratory_system_phenotype0.60253895
93MP0002697_abnormal_eye_size0.60082267
94MP0009780_abnormal_chondrocyte_physiolo0.60072764
95MP0004883_abnormal_blood_vessel0.59706026
96MP0001849_ear_inflammation0.59695569
97MP0000467_abnormal_esophagus_morphology0.59075251
98MP0005193_abnormal_anterior_eye0.57491352
99* MP0000013_abnormal_adipose_tissue0.57409418
100MP0005369_muscle_phenotype0.57065133
101MP0005197_abnormal_uvea_morphology0.56068934
102MP0004087_abnormal_muscle_fiber0.54553545
103MP0001340_abnormal_eyelid_morphology0.52956461
104MP0000579_abnormal_nail_morphology0.52634247
105MP0005058_abnormal_lysosome_morphology0.52314995
106MP0000858_altered_metastatic_potential0.52046934
107MP0002234_abnormal_pharynx_morphology0.51829404
108MP0000516_abnormal_urinary_system0.51662567
109MP0005367_renal/urinary_system_phenotyp0.51662567
110MP0002092_abnormal_eye_morphology0.49940114
111MP0004197_abnormal_fetal_growth/weight/0.49084694
112MP0001270_distended_abdomen0.48880440
113MP0005620_abnormal_muscle_contractility0.47488957
114MP0004084_abnormal_cardiac_muscle0.46701477
115MP0000747_muscle_weakness0.45924328
116MP0005621_abnormal_cell_physiology0.41975213

Predicted human phenotypes

RankGene SetZ-score
1* Protrusio acetabuli (HP:0003179)9.45032985
2* Premature rupture of membranes (HP:0001788)8.77888654
3Ankle contracture (HP:0006466)5.88240251
4* Atrophic scars (HP:0001075)5.24124708
5Shallow orbits (HP:0000586)5.22984353
6* Aortic dissection (HP:0002647)5.11798235
7* Soft skin (HP:0000977)4.88859771
8* Peritonitis (HP:0002586)4.68313804
9Follicular hyperkeratosis (HP:0007502)4.66100311
10Broad metatarsal (HP:0001783)4.47284641
11Type 1 muscle fiber predominance (HP:0003803)4.28347228
12* Fragile skin (HP:0001030)4.28257650
13* Bladder diverticulum (HP:0000015)4.26900036
14* Abnormality of dentin (HP:0010299)4.21752296
15Cerebral aneurysm (HP:0004944)4.16624834
16* Dilatation of the ascending aorta (HP:0005111)3.92709639
17* Genu recurvatum (HP:0002816)3.90406495
18Aortic aneurysm (HP:0004942)3.72465778
19Slender build (HP:0001533)3.69294524
20* Mitral valve prolapse (HP:0001634)3.63456114
21Spinal rigidity (HP:0003306)3.61896227
22Vertebral compression fractures (HP:0002953)3.61676418
23* Blue sclerae (HP:0000592)3.60825922
24* Biconcave vertebral bodies (HP:0004586)3.58432306
25* Wormian bones (HP:0002645)3.48062513
26Cervical subluxation (HP:0003308)3.45716464
27Increased connective tissue (HP:0009025)3.34058726
28* Neonatal short-limb short stature (HP:0008921)3.28387510
29Wrist flexion contracture (HP:0001239)3.18931578
30* Hyperextensible skin (HP:0000974)2.95919635
31Increased variability in muscle fiber diameter (HP:0003557)2.95815522
32Mildly elevated creatine phosphokinase (HP:0008180)2.93505237
33* Bowel diverticulosis (HP:0005222)2.93223526
34* Abnormal delivery (HP:0001787)2.89043028
35Elbow flexion contracture (HP:0002987)2.78818694
36Mitral regurgitation (HP:0001653)2.57640849
37* Joint laxity (HP:0001388)2.55845243
38Abnormality of skeletal muscle fiber size (HP:0012084)2.55599042
39Overgrowth (HP:0001548)2.55283265
40* Deviation of the hallux (HP:0010051)2.48628291
41Osteolytic defects of the phalanges of the hand (HP:0009771)2.43996604
42Osteolytic defects of the hand bones (HP:0009699)2.43996604
43Aortic regurgitation (HP:0001659)2.42280171
44* Abnormality of the acetabulum (HP:0003170)2.42172755
45* Ectopia lentis (HP:0001083)2.42077558
46Vascular tortuosity (HP:0004948)2.41979296
47Aortic valve stenosis (HP:0001650)2.40256345
48* Hallux valgus (HP:0001822)2.40043340
49Ulnar bowing (HP:0003031)2.39813158
50Joint stiffness (HP:0001387)2.37354989
51Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.35909530
52Short 4th metacarpal (HP:0010044)2.35909530
53Absent frontal sinuses (HP:0002688)2.34315987
54Broad ribs (HP:0000885)2.34192931
55Thin bony cortex (HP:0002753)2.30115644
56Mesomelia (HP:0003027)2.28495832
57* Wide anterior fontanel (HP:0000260)2.27811236
58Aneurysm (HP:0002617)2.27361309
59Camptodactyly of toe (HP:0001836)2.27193943
60* Infantile muscular hypotonia (HP:0008947)2.23646013
61* Osteoarthritis (HP:0002758)2.22128263
62Buphthalmos (HP:0000557)2.18247522
63Premature skin wrinkling (HP:0100678)2.15696243
64* Mild short stature (HP:0003502)2.12201987
65Spondylolisthesis (HP:0003302)2.11241341
66Bell-shaped thorax (HP:0001591)2.10293762
67Coronal craniosynostosis (HP:0004440)2.09668811
68Round ear (HP:0100830)2.08420328
69* Abnormality of the peritoneum (HP:0002585)2.04945922
70Ulnar deviation of the wrist (HP:0003049)2.04252184
71Coxa vara (HP:0002812)2.02518789
72Alopecia of scalp (HP:0002293)2.01717543
73Long toe (HP:0010511)2.01052473
74Hypoventilation (HP:0002791)2.01034259
75Redundant skin (HP:0001582)2.00622789
76Arterial tortuosity (HP:0005116)1.99736580
77Renal duplication (HP:0000075)1.98737074
78Calcaneovalgus deformity (HP:0001848)1.97140713
79Congenital glaucoma (HP:0001087)1.96885272
80Striae distensae (HP:0001065)1.95771015
81Generalized amyotrophy (HP:0003700)1.94168660
82Disproportionate tall stature (HP:0001519)1.93805227
83Knee flexion contracture (HP:0006380)1.93331660
84Abnormality of the calcaneus (HP:0008364)1.92936406
85* Venous abnormality (HP:0002624)1.92095670
86Mitral stenosis (HP:0001718)1.92090919
87Protruding ear (HP:0000411)1.90577960
88Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.89744156
89Abnormality of the 4th metacarpal (HP:0010012)1.89063766
90Distal upper limb amyotrophy (HP:0007149)1.88241551
91Upper limb amyotrophy (HP:0009129)1.88241551
92* Tibial bowing (HP:0002982)1.86575566
93* Venous insufficiency (HP:0005293)1.86036770
94* Femoral bowing (HP:0002980)1.85982476
95* Breech presentation (HP:0001623)1.85667150
96* Thin skin (HP:0000963)1.84737766
97Hypoplasia of the iris (HP:0007676)1.84208188
98Bowed forearm bones (HP:0003956)1.83557696
99Bowing of the arm (HP:0006488)1.83557696
100Keratoconus (HP:0000563)1.83355627
101Increased corneal curvature (HP:0100692)1.83355627
102Deformed tarsal bones (HP:0008119)1.83322473
103Thoracolumbar scoliosis (HP:0002944)1.82866199
104Flat cornea (HP:0007720)1.82048788
105Delayed cranial suture closure (HP:0000270)1.81289365
106* Inguinal hernia (HP:0000023)1.81054242
107Thin ribs (HP:0000883)1.80806470
108Asymmetry of the thorax (HP:0001555)1.80608702
109Achilles tendon contracture (HP:0001771)1.79021939
110* Broad long bones (HP:0005622)1.78774214
111Joint contractures involving the joints of the feet (HP:0100492)1.78253854
112Flexion contracture of toe (HP:0005830)1.78253854
113Limb-girdle muscle weakness (HP:0003325)1.77371794
114Syringomyelia (HP:0003396)1.76795669
115Spinal cord lesions (HP:0100561)1.76795669
116Short nail (HP:0001799)1.76732661
117* Platyspondyly (HP:0000926)1.76394107
118Narrow nasal bridge (HP:0000446)1.75873638
119Ovoid vertebral bodies (HP:0003300)1.75540199
120Delayed closure of the anterior fontanelle (HP:0001476)1.74766112
121Hip contracture (HP:0003273)1.74554222
122Natal tooth (HP:0000695)1.73866831
123Limited hip movement (HP:0008800)1.73676191
124* Osteopenia (HP:0000938)1.72110076

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.55853818
2TRIB34.55625121
3PDGFRA4.22568885
4TTN4.09368168
5LATS23.82393761
6PKN23.13039509
7LATS12.88368289
8ERN12.88363382
9SIK12.68801294
10EPHB22.41751911
11PAK22.15496663
12RIPK12.10638096
13BMX2.10497389
14EPHA31.73474567
15PTK21.71081943
16EEF2K1.60073530
17DMPK1.56146234
18TRPM71.53709355
19PTK61.50199170
20FER1.49967402
21STK381.45534692
22MYLK1.42463717
23PAK41.41665835
24PAK31.41140581
25MAP3K101.40445007
26RPS6KA41.39709272
27PDGFRB1.39491059
28PTK2B1.31560275
29FGFR11.30235765
30MAP3K61.29434821
31AKT31.26582474
32KIT1.17857232
33STK31.16738296
34LRRK21.15992587
35MTOR1.10828952
36TGFBR21.09940873
37TESK11.07255534
38MET1.03947659
39ILK1.03178808
40ROCK11.02034074
41PIM20.98086965
42GRK70.95645954
43MAPK70.94605205
44LIMK10.88243861
45PIK3CG0.87141112
46NTRK10.85790058
47PRKD20.85725970
48NEK90.85548172
49EPHB10.85254921
50PIK3CA0.81657742
51ABL20.79098044
52FGFR20.78683583
53MARK10.76334544
54MOS0.73970383
55CDC42BPA0.72584558
56PRKD30.71757763
57TAOK20.70748893
58SMG10.70322007
59ICK0.70023947
60PAK10.68152082
61MAP2K10.67085816
62FLT30.66217097
63ROCK20.65201210
64RET0.64698510
65INSR0.64242214
66PRKD10.64149978
67DAPK30.63327715
68PRKCH0.61954489
69EPHA20.60554005
70TAOK10.60470815
71SCYL20.59792157
72PRPF4B0.54065504
73ERBB40.53068411
74CAMK1D0.52981129
75ADRBK10.51921398
76GSK3A0.50889710
77CDK60.50125159
78PLK20.49207194
79JAK10.49109236
80STK38L0.47949396
81LMTK20.47573476
82FRK0.47513008
83CAMKK10.45021835
84CLK10.44733246
85MAPKAPK30.43692334
86SRC0.43515328
87CAMK2G0.42728262
88MELK0.39983882
89MAP3K80.37661093
90GRK50.37521600
91MAPKAPK50.36404675
92FGFR40.35227982
93DYRK1B0.34398888
94WNK10.34217068
95MAPK10.34108325
96CAMK1G0.33867781
97PRKG20.32895220
98JAK30.32518430
99MAP3K30.32097115
100ARAF0.31135820
101ERBB30.30868650
102CDK80.30113397
103PAK60.29984992
104CDK120.29165793
105HIPK20.28977367
106MAP2K30.27110052
107RPS6KA20.26989955
108MAPK40.26875565
109CDK90.25932849
110KSR20.25381162
111ZAP700.25181194
112TESK20.25149426
113CDK11A0.24893531
114MARK20.23882875
115MAPKAPK20.23859240
116NME20.23721061
117CDK140.23391413
118RPS6KC10.22761968
119RPS6KL10.22761968
120ERBB20.22648592
121CDK150.22027498
122FYN0.20935164
123RPS6KA60.20351788
124ABL10.20060188
125TYRO30.19532211
126MAP3K70.19301726

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045125.30580669
2* Protein digestion and absorption_Homo sapiens_hsa049743.64514598
3* Focal adhesion_Homo sapiens_hsa045103.53429615
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.98076404
5Proteoglycans in cancer_Homo sapiens_hsa052052.46301481
6* Amoebiasis_Homo sapiens_hsa051462.42605911
7* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.26059997
8Malaria_Homo sapiens_hsa051442.22894194
9Basal cell carcinoma_Homo sapiens_hsa052172.19952683
10Bladder cancer_Homo sapiens_hsa052192.16918504
11Adherens junction_Homo sapiens_hsa045202.03865495
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.02133516
13Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.99625558
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.89616650
15Dilated cardiomyopathy_Homo sapiens_hsa054141.88797903
16MicroRNAs in cancer_Homo sapiens_hsa052061.85131248
17* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.84607655
18Small cell lung cancer_Homo sapiens_hsa052221.84488806
19Hippo signaling pathway_Homo sapiens_hsa043901.83934336
20Hedgehog signaling pathway_Homo sapiens_hsa043401.83174611
21TGF-beta signaling pathway_Homo sapiens_hsa043501.78638966
22Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.57375888
23Chronic myeloid leukemia_Homo sapiens_hsa052201.54817739
24Melanoma_Homo sapiens_hsa052181.52404416
25Regulation of actin cytoskeleton_Homo sapiens_hsa048101.46078914
26Other glycan degradation_Homo sapiens_hsa005111.36724642
27Glioma_Homo sapiens_hsa052141.27010640
28Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.24052395
29Prostate cancer_Homo sapiens_hsa052151.23209592
30Leukocyte transendothelial migration_Homo sapiens_hsa046701.18114975
31Pathways in cancer_Homo sapiens_hsa052001.16919980
32Wnt signaling pathway_Homo sapiens_hsa043101.16474047
33p53 signaling pathway_Homo sapiens_hsa041151.16364869
34Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.13203068
35Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.11449070
36Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.09545782
37Axon guidance_Homo sapiens_hsa043601.08995956
38Shigellosis_Homo sapiens_hsa051311.07098248
39* Platelet activation_Homo sapiens_hsa046111.06083131
40Central carbon metabolism in cancer_Homo sapiens_hsa052301.04816578
41Rap1 signaling pathway_Homo sapiens_hsa040151.03754414
42HTLV-I infection_Homo sapiens_hsa051661.03249700
43Pancreatic cancer_Homo sapiens_hsa052121.02526962
44TNF signaling pathway_Homo sapiens_hsa046681.02335768
45Melanogenesis_Homo sapiens_hsa049160.98528261
46Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.95967230
47Toxoplasmosis_Homo sapiens_hsa051450.92391178
48Cocaine addiction_Homo sapiens_hsa050300.91755386
49Notch signaling pathway_Homo sapiens_hsa043300.91257990
50Tight junction_Homo sapiens_hsa045300.89829041
51Viral myocarditis_Homo sapiens_hsa054160.87185155
52Vibrio cholerae infection_Homo sapiens_hsa051100.84949593
53Estrogen signaling pathway_Homo sapiens_hsa049150.83571573
54Phagosome_Homo sapiens_hsa041450.81772019
55Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.80686816
56Gap junction_Homo sapiens_hsa045400.79139159
57Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77717335
58Colorectal cancer_Homo sapiens_hsa052100.75660771
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74285803
60Renal cell carcinoma_Homo sapiens_hsa052110.72600532
61Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.69558458
62Hepatitis B_Homo sapiens_hsa051610.69432047
63mTOR signaling pathway_Homo sapiens_hsa041500.67940693
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.66400207
65Longevity regulating pathway - mammal_Homo sapiens_hsa042110.65304465
66GnRH signaling pathway_Homo sapiens_hsa049120.64451354
67HIF-1 signaling pathway_Homo sapiens_hsa040660.64354355
68Complement and coagulation cascades_Homo sapiens_hsa046100.63595884
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.62191378
70Endometrial cancer_Homo sapiens_hsa052130.60542335
71Salmonella infection_Homo sapiens_hsa051320.60515765
72Viral carcinogenesis_Homo sapiens_hsa052030.59907990
73Pertussis_Homo sapiens_hsa051330.59183071
74Insulin resistance_Homo sapiens_hsa049310.58445161
75Renin-angiotensin system_Homo sapiens_hsa046140.57003551
76Apoptosis_Homo sapiens_hsa042100.56308564
77N-Glycan biosynthesis_Homo sapiens_hsa005100.56105787
78Phospholipase D signaling pathway_Homo sapiens_hsa040720.55343320
79Ras signaling pathway_Homo sapiens_hsa040140.54089422
80Ovarian steroidogenesis_Homo sapiens_hsa049130.53582606
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52584781
82VEGF signaling pathway_Homo sapiens_hsa043700.52012217
83Thyroid hormone synthesis_Homo sapiens_hsa049180.51772058
84Oxytocin signaling pathway_Homo sapiens_hsa049210.51512353
85Endocytosis_Homo sapiens_hsa041440.50835187
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.50684102
87cAMP signaling pathway_Homo sapiens_hsa040240.50174291
88Glycosaminoglycan degradation_Homo sapiens_hsa005310.48405595
89Galactose metabolism_Homo sapiens_hsa000520.48287928
90Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47057212
91FoxO signaling pathway_Homo sapiens_hsa040680.46887942
92AMPK signaling pathway_Homo sapiens_hsa041520.46751571
93Dorso-ventral axis formation_Homo sapiens_hsa043200.46673315
94Cholinergic synapse_Homo sapiens_hsa047250.46632639
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46487538
96Choline metabolism in cancer_Homo sapiens_hsa052310.45545069
97Prolactin signaling pathway_Homo sapiens_hsa049170.45065276
98MAPK signaling pathway_Homo sapiens_hsa040100.44670496
99Non-small cell lung cancer_Homo sapiens_hsa052230.43441548
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43096412
101Acute myeloid leukemia_Homo sapiens_hsa052210.40858708
102Adipocytokine signaling pathway_Homo sapiens_hsa049200.40858418
103Osteoclast differentiation_Homo sapiens_hsa043800.40586612
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.40553409
105Leishmaniasis_Homo sapiens_hsa051400.39696697
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38464099
107Lysine degradation_Homo sapiens_hsa003100.37643478
108Thyroid cancer_Homo sapiens_hsa052160.36592467
109ErbB signaling pathway_Homo sapiens_hsa040120.35591216
110Prion diseases_Homo sapiens_hsa050200.35327709
111Calcium signaling pathway_Homo sapiens_hsa040200.34776661
112Insulin signaling pathway_Homo sapiens_hsa049100.34308948
113Aldosterone synthesis and secretion_Homo sapiens_hsa049250.33990215
114Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32909514
115Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.31506757
116Lysosome_Homo sapiens_hsa041420.29550039

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