MMP1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1wound healing, spreading of epidermal cells (GO:0035313)8.85034822
2blood vessel maturation (GO:0001955)7.88445959
3wound healing, spreading of cells (GO:0044319)6.10184628
4hemidesmosome assembly (GO:0031581)6.04852883
5endodermal cell differentiation (GO:0035987)5.99718528
6mesodermal cell differentiation (GO:0048333)5.89015992
7substrate-dependent cell migration (GO:0006929)5.51692214
8retina vasculature morphogenesis in camera-type eye (GO:0061299)5.03168873
9negative regulation of anoikis (GO:2000811)5.01602115
10skin morphogenesis (GO:0043589)4.81817404
11cell-substrate junction assembly (GO:0007044)4.68158238
12hyaluronan catabolic process (GO:0030214)4.64231432
13lymphangiogenesis (GO:0001946)4.61620303
14positive regulation of receptor recycling (GO:0001921)4.42901835
15hypotonic response (GO:0006971)4.29321327
16chondrocyte proliferation (GO:0035988)4.25589877
17protein localization to endosome (GO:0036010)4.19020537
18positive regulation of astrocyte differentiation (GO:0048711)4.12761831
19cellular response to vitamin D (GO:0071305)4.08887864
20regulation of anoikis (GO:2000209)4.04264264
21endothelium development (GO:0003158)4.02468845
22positive regulation of osteoblast proliferation (GO:0033690)4.01240671
23positive regulation of actin cytoskeleton reorganization (GO:2000251)3.85954243
24regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)3.81100433
25positive regulation of blood vessel endothelial cell migration (GO:0043536)3.79689894
26sprouting angiogenesis (GO:0002040)3.77180131
27cell migration involved in sprouting angiogenesis (GO:0002042)3.71885211
28endothelial cell proliferation (GO:0001935)3.71797914
29positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)3.65178344
30vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.64924007
31negative regulation of focal adhesion assembly (GO:0051895)3.61511361
32negative regulation of cell junction assembly (GO:1901889)3.61511361
33negative regulation of adherens junction organization (GO:1903392)3.61511361
34angiogenesis involved in wound healing (GO:0060055)3.61287791
35COPI coating of Golgi vesicle (GO:0048205)3.56122034
36Golgi transport vesicle coating (GO:0048200)3.56122034
37endothelial cell morphogenesis (GO:0001886)3.50510844
38artery development (GO:0060840)3.49615816
39positive regulation of interleukin-8 secretion (GO:2000484)3.47499892
40negative regulation of blood vessel endothelial cell migration (GO:0043537)3.33009530
41heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.32402591
42vascular endothelial growth factor signaling pathway (GO:0038084)3.30441803
43morphogenesis of an endothelium (GO:0003159)3.30385696
44endothelial tube morphogenesis (GO:0061154)3.30385696
45lung lobe morphogenesis (GO:0060463)3.27978913
46cellular response to vitamin (GO:0071295)3.25616592
47dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.25062912
48neuron projection extension involved in neuron projection guidance (GO:1902284)3.17393636
49axon extension involved in axon guidance (GO:0048846)3.17393636
50heterotypic cell-cell adhesion (GO:0034113)3.13447734
51* collagen metabolic process (GO:0032963)3.10611527
52regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.09344575
53* collagen catabolic process (GO:0030574)3.09344288
54venous blood vessel morphogenesis (GO:0048845)3.09323752
55* extracellular matrix disassembly (GO:0022617)3.08821255
56regulation of cell migration involved in sprouting angiogenesis (GO:0090049)3.08585088
57positive regulation of endothelial cell migration (GO:0010595)3.08025986
58renal filtration (GO:0097205)3.07238535
59regulation of blood vessel endothelial cell migration (GO:0043535)3.06374153
60positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.03925615
61ganglion development (GO:0061548)3.02566150
62blood vessel endothelial cell migration (GO:0043534)3.01619404
63positive regulation of epithelial cell migration (GO:0010634)3.00106329
64peptide catabolic process (GO:0043171)3.00100717
65basement membrane organization (GO:0071711)2.97705199
66positive regulation of endothelial cell apoptotic process (GO:2000353)2.97044592
67semaphorin-plexin signaling pathway (GO:0071526)2.94846804
68endochondral ossification (GO:0001958)2.91315738
69replacement ossification (GO:0036075)2.91315738
70mammary gland epithelial cell proliferation (GO:0033598)2.91168116
71endothelial cell migration (GO:0043542)2.88445366
72stress fiber assembly (GO:0043149)2.87995147
73negative regulation of chondrocyte differentiation (GO:0032331)2.87252995
74negative regulation of nitric-oxide synthase activity (GO:0051001)2.85045698
75substrate adhesion-dependent cell spreading (GO:0034446)2.84965118
76* multicellular organismal macromolecule metabolic process (GO:0044259)2.84216863
77hepatocyte differentiation (GO:0070365)2.83942215
78regulation of actin cytoskeleton reorganization (GO:2000249)2.83703152
79regulation of collagen metabolic process (GO:0010712)2.83564198
80* multicellular organismal catabolic process (GO:0044243)2.83478422
81hormone catabolic process (GO:0042447)2.82782786
82endothelial cell chemotaxis (GO:0035767)2.80471594
83protein maturation by protein folding (GO:0022417)2.79348914
84maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.77998491
85angiogenesis (GO:0001525)2.77255426
86membrane protein ectodomain proteolysis (GO:0006509)2.74790840
87SMAD protein complex assembly (GO:0007183)2.72520123
88regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.70188879
89regulation of transforming growth factor beta1 production (GO:0032908)2.70143451
90* multicellular organismal metabolic process (GO:0044236)2.67115336
91regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.66326595
92viral entry into host cell (GO:0046718)2.66234538
93regulation of positive chemotaxis (GO:0050926)2.65810249
94response to magnesium ion (GO:0032026)2.65065150
95positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.65002935
96negative regulation of endothelial cell migration (GO:0010596)2.64589258
97negative regulation of platelet activation (GO:0010544)2.64512562
98positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.63999464
99heparan sulfate proteoglycan metabolic process (GO:0030201)2.62413708
100cell adhesion mediated by integrin (GO:0033627)10.5704950

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_21666600_ChIP-Seq_HMVEC_Human3.95862596
2SMAD_19615063_ChIP-ChIP_OVARY_Human3.58990699
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.36283206
4ELK3_25401928_ChIP-Seq_HUVEC_Human3.23812035
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.08662920
6TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.99511173
7PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.98232484
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.89646073
9STAT6_21828071_ChIP-Seq_BEAS2B_Human2.86941747
10ZNF263_19887448_ChIP-Seq_K562_Human2.68618148
11TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.68490029
12SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.67968436
13RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.27710782
14BRD4_25478319_ChIP-Seq_HGPS_Human2.27312007
15SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.16925802
16SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.16925802
17CJUN_26792858_Chip-Seq_BT549_Human2.08764235
18WT1_19549856_ChIP-ChIP_CCG9911_Human2.01745501
19TP63_17297297_ChIP-ChIP_HaCaT_Human10.1575139
20CLOCK_20551151_ChIP-Seq_293T_Human1.95568716
21KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.92115422
22* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.88986913
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.87952392
24JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.86860582
25UBF1/2_26484160_Chip-Seq_HMECs_Human1.86583472
26P300_27058665_Chip-Seq_ZR-75-30cells_Human1.85804035
27CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.84598977
28* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.82184127
29THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.74273524
30JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.72747053
31ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.72694663
32HIF1A_21447827_ChIP-Seq_MCF-7_Human1.70363958
33SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.69916153
34ESR2_21235772_ChIP-Seq_MCF-7_Human1.68883952
35TP53_22127205_ChIP-Seq_IMR90_Human1.65062918
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.61547082
37KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.61026298
38UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.55451233
39WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.53945609
40EGR1_19374776_ChIP-ChIP_THP-1_Human1.53417110
41NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38902272
42KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37658477
43MYB_21317192_ChIP-Seq_ERMYB_Mouse1.36056268
44TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.35752861
45CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.34092023
46ATF3_27146783_Chip-Seq_COLON_Human1.33067837
47SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33061144
48P63_26484246_Chip-Seq_KERATINOCYTES_Human1.32099151
49Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.30745700
50ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.28986231
51SOX2_20726797_ChIP-Seq_SW620_Human1.23969712
52LXR_22292898_ChIP-Seq_THP-1_Human1.22703152
53FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.22637275
54SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21729764
55FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.21436373
56SMC1_22415368_ChIP-Seq_MEFs_Mouse1.20349569
57EP300_21415370_ChIP-Seq_HL-1_Mouse1.17007670
58NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.13500711
59EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.12421735
60TBX20_22328084_ChIP-Seq_HEART_Mouse1.10577219
61TBX20_22080862_ChIP-Seq_HEART_Mouse1.10577219
62TP53_23651856_ChIP-Seq_MEFs_Mouse1.08672317
63NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.08271979
64RACK7_27058665_Chip-Seq_MCF-7_Human1.07689293
65EGR1_19032775_ChIP-ChIP_M12_Human1.06712265
66FOXO3_23340844_ChIP-Seq_DLD1_Human1.06442349
67TP53_18474530_ChIP-ChIP_U2OS_Human1.05059773
68NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.04532454
69ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03712412
70KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.02075798
71SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01164061
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.99792757
73KDM2B_26808549_Chip-Seq_K562_Human0.98774860
74GATA1_19941826_ChIP-Seq_K562_Human0.97339252
75NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96506251
76NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95641306
77NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95641306
78TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92761288
79POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.92435702
80ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.92372518
81TP63_23658742_ChIP-Seq_EP156T_Human0.89832713
82NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.89594780
83TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.89261797
84ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.87280279
85HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.84475049
86EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.84267139
87TP53_16413492_ChIP-PET_HCT116_Human0.84053513
88ELK4_26923725_Chip-Seq_MESODERM_Mouse0.83093558
89TET1_21490601_ChIP-Seq_MESCs_Mouse0.82059406
90KDM2B_26808549_Chip-Seq_JURKAT_Human0.81822897
91SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.81707686
92SA1_22415368_ChIP-Seq_MEFs_Mouse0.81273903
93ZFP281_27345836_Chip-Seq_ESCs_Mouse0.77915590
94FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.77862297
95STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.76281306
96SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.74803675
97PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.74567975
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.74376957
99SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.73986223
100SOX2_27498859_Chip-Seq_STOMACH_Mouse0.73533617

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010368_abnormal_lymphatic_system5.54693119
2MP0004272_abnormal_basement_membrane4.91858974
3MP0008438_abnormal_cutaneous_collagen4.08827627
4MP0002877_abnormal_melanocyte_morpholog3.97309590
5MP0003566_abnormal_cell_adhesion3.95586918
6MP0001879_abnormal_lymphatic_vessel3.37826045
7MP0005623_abnormal_meninges_morphology3.13694557
8MP0003705_abnormal_hypodermis_morpholog2.94354114
9MP0010352_gastrointestinal_tract_polyps2.57619674
10MP0003279_aneurysm2.51918346
11MP0004510_myositis2.34662607
12MP0003091_abnormal_cell_migration2.28913065
13MP0003828_pulmonary_edema2.16332823
14MP0003950_abnormal_plasma_membrane2.15690168
15MP0005595_abnormal_vascular_smooth2.00387462
16MP0005023_abnormal_wound_healing1.94236607
17MP0010030_abnormal_orbit_morphology1.93198914
18MP0000767_abnormal_smooth_muscle1.89340972
19MP0001849_ear_inflammation1.84799950
20MP0005257_abnormal_intraocular_pressure1.76834254
21MP0002295_abnormal_pulmonary_circulatio1.74801991
22MP0005167_abnormal_blood-brain_barrier1.68151538
23MP0004084_abnormal_cardiac_muscle1.66732634
24MP0003303_peritoneal_inflammation1.62253573
25MP0009840_abnormal_foam_cell1.61002864
26MP0009780_abnormal_chondrocyte_physiolo1.57416504
27MP0002138_abnormal_hepatobiliary_system1.53892784
28MP0003300_gastrointestinal_ulcer1.52075058
29MP0002896_abnormal_bone_mineralization1.50260483
30MP0005275_abnormal_skin_tensile1.49232966
31MP0002933_joint_inflammation1.48952680
32MP0009697_abnormal_copulation1.43643696
33MP0002332_abnormal_exercise_endurance1.43077248
34MP0009053_abnormal_anal_canal1.42770500
35MP0002060_abnormal_skin_morphology1.39829025
36MP0006054_spinal_hemorrhage1.38067685
37MP0000678_abnormal_parathyroid_gland1.35680633
38MP0004782_abnormal_surfactant_physiolog1.34628189
39MP0001614_abnormal_blood_vessel1.32056572
40MP0005164_abnormal_response_to1.31973325
41MP0000467_abnormal_esophagus_morphology1.29449293
42MP0005409_darkened_coat_color1.28058158
43MP0000465_gastrointestinal_hemorrhage1.27452094
44MP0005165_increased_susceptibility_to1.26486400
45MP0002796_impaired_skin_barrier1.25771391
46MP0004858_abnormal_nervous_system1.24841956
47MP0002925_abnormal_cardiovascular_devel1.24071884
48MP0000751_myopathy1.23375790
49MP0003191_abnormal_cellular_cholesterol1.22726748
50MP0003448_altered_tumor_morphology1.21129506
51MP0001915_intracranial_hemorrhage1.20278121
52MP0000343_altered_response_to1.19400188
53MP0000858_altered_metastatic_potential1.18563430
54MP0001299_abnormal_eye_distance/1.11783239
55MP0003453_abnormal_keratinocyte_physiol1.10657673
56MP0003941_abnormal_skin_development1.10362984
57MP0008004_abnormal_stomach_pH1.07964417
58MP0005508_abnormal_skeleton_morphology1.06453863
59MP0001542_abnormal_bone_strength1.03452614
60MP0001958_emphysema1.02492075
61MP0005197_abnormal_uvea_morphology1.02079822
62MP0000733_abnormal_muscle_development1.00755873
63MP0000249_abnormal_blood_vessel1.00466914
64MP0002998_abnormal_bone_remodeling1.00360280
65MP0006138_congestive_heart_failure0.99517102
66MP0008260_abnormal_autophagy0.97788321
67MP0000762_abnormal_tongue_morphology0.97732587
68MP0002128_abnormal_blood_circulation0.91820085
69MP0003045_fibrosis0.91634112
70MP0005166_decreased_susceptibility_to0.91229839
71MP0005451_abnormal_body_composition0.89852667
72MP0005501_abnormal_skin_physiology0.87377229
73MP0001727_abnormal_embryo_implantation0.86448844
74MP0005390_skeleton_phenotype0.84454115
75MP0001533_abnormal_skeleton_physiology0.83249468
76MP0000579_abnormal_nail_morphology0.80876543
77MP0000613_abnormal_salivary_gland0.80294835
78MP0004947_skin_inflammation0.78546405
79MP0004233_abnormal_muscle_weight0.76702746
80MP0002932_abnormal_joint_morphology0.74200613
81MP0003385_abnormal_body_wall0.73454396
82MP0002177_abnormal_outer_ear0.73369486
83MP0005621_abnormal_cell_physiology0.72262454
84MP0001243_abnormal_dermal_layer0.71927866
85MP0001216_abnormal_epidermal_layer0.71144491
86MP0002972_abnormal_cardiac_muscle0.70621394
87MP0000428_abnormal_craniofacial_morphol0.69582272
88MP0004036_abnormal_muscle_relaxation0.68920859
89MP0003436_decreased_susceptibility_to0.68580667
90MP0009250_abnormal_appendicular_skeleto0.67574778
91MP0002168_other_aberrant_phenotype0.66936103
92MP0000750_abnormal_muscle_regeneration0.66284643
93MP0002127_abnormal_cardiovascular_syste0.65101981
94MP0000627_abnormal_mammary_gland0.63794113
95MP0000013_abnormal_adipose_tissue0.61567229
96MP0005464_abnormal_platelet_physiology0.61289415
97MP0000163_abnormal_cartilage_morphology0.60936913
98MP0008775_abnormal_heart_ventricle0.60553502
99MP0004484_altered_response_of0.60538019
100MP0000749_muscle_degeneration0.60186072

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.13766059
2Premature rupture of membranes (HP:0001788)5.30731720
3Arterial tortuosity (HP:0005116)4.79053436
4Vascular tortuosity (HP:0004948)4.58286246
5Atrophic scars (HP:0001075)4.43491219
6Cervical subluxation (HP:0003308)4.29773074
7Spinal rigidity (HP:0003306)4.22382838
8Follicular hyperkeratosis (HP:0007502)4.16242751
9Ankle contracture (HP:0006466)4.03265823
10Hematochezia (HP:0002573)3.80363713
11Aortic dissection (HP:0002647)3.60197370
12Fragile skin (HP:0001030)3.52399878
13Overgrowth (HP:0001548)3.45540934
14Spontaneous hematomas (HP:0007420)3.44210244
15Vertebral compression fractures (HP:0002953)3.43839043
16Fragile nails (HP:0001808)3.42283870
17Wrist flexion contracture (HP:0001239)3.30187767
18Polycythemia (HP:0001901)3.22989845
19Achilles tendon contracture (HP:0001771)3.21121377
20Slender build (HP:0001533)3.16680122
21Aortic aneurysm (HP:0004942)3.14009343
22Cerebral aneurysm (HP:0004944)3.07149275
23Esophageal varix (HP:0002040)3.00240703
24Genu recurvatum (HP:0002816)2.97570919
25Cerebral hemorrhage (HP:0001342)2.94540536
26Conjunctival telangiectasia (HP:0000524)2.92919567
27Milia (HP:0001056)2.87608811
28Type 1 muscle fiber predominance (HP:0003803)2.86280014
29Wormian bones (HP:0002645)2.82833335
30Abnormality of the Achilles tendon (HP:0005109)2.82059689
31Mildly elevated creatine phosphokinase (HP:0008180)2.71399593
32Short nail (HP:0001799)2.70789961
33Increased variability in muscle fiber diameter (HP:0003557)2.65656898
34Blue sclerae (HP:0000592)2.61845810
35Mitral valve prolapse (HP:0001634)2.54236114
36Abnormality of the nasal mucosa (HP:0000433)2.52252468
37Abnormality of liposaccharide metabolism (HP:0010968)2.46846325
38Abnormality of glycosphingolipid metabolism (HP:0004343)2.46846325
39Abnormality of glycolipid metabolism (HP:0010969)2.46846325
40Menorrhagia (HP:0000132)2.46803994
41Abnormality of skeletal muscle fiber size (HP:0012084)2.44995249
42Increased connective tissue (HP:0009025)2.44096786
43Abnormality of the vasculature of the conjunctiva (HP:0008054)2.43540657
44Bladder diverticulum (HP:0000015)2.42421819
45Spondylolisthesis (HP:0003302)2.40307749
46Tetraparesis (HP:0002273)2.37652679
47Broad metatarsal (HP:0001783)2.36631156
48Aplasia cutis congenita (HP:0001057)2.36615574
49Coxa vara (HP:0002812)2.35057838
50Difficulty climbing stairs (HP:0003551)2.34977809
51Neurofibrillary tangles (HP:0002185)2.32297169
52Shallow orbits (HP:0000586)2.28492789
53Osteolytic defects of the phalanges of the hand (HP:0009771)2.28391244
54Osteolytic defects of the hand bones (HP:0009699)2.28391244
55Upper limb amyotrophy (HP:0009129)2.27253197
56Distal upper limb amyotrophy (HP:0007149)2.27253197
57Trismus (HP:0000211)2.25358801
58Abnormality of the acetabulum (HP:0003170)2.24693331
59Disproportionate tall stature (HP:0001519)2.20758327
60Abnormality of dentin (HP:0010299)2.20304905
61Cardiovascular calcification (HP:0011915)2.19139073
62Pterygium (HP:0001059)2.18826501
63Hypoventilation (HP:0002791)2.18758014
64Joint laxity (HP:0001388)2.16500710
65Aneurysm (HP:0002617)2.15013146
66Neonatal death (HP:0003811)2.13199702
67Elbow flexion contracture (HP:0002987)2.11852756
68Soft skin (HP:0000977)2.09798214
69Skull defect (HP:0001362)2.07589634
70Generalized amyotrophy (HP:0003700)2.01904165
71Abnormal platelet function (HP:0011869)2.01107073
72Impaired platelet aggregation (HP:0003540)2.01107073
73Nonimmune hydrops fetalis (HP:0001790)2.00953027
74Obstructive sleep apnea (HP:0002870)1.98028526
75Portal hypertension (HP:0001409)1.97331631
76Dilatation of the ascending aorta (HP:0005111)1.96935854
77Distal lower limb amyotrophy (HP:0008944)1.94869059
78Cerebral inclusion bodies (HP:0100314)1.94569632
79Onycholysis (HP:0001806)1.92701995
80Natal tooth (HP:0000695)1.91925525
81Deep venous thrombosis (HP:0002625)1.91446869
82Thick nail (HP:0001805)1.90039395
83Broad face (HP:0000283)1.89964684
84Vascular calcification (HP:0004934)1.88575919
85Cavernous hemangioma (HP:0001048)1.88012134
86Porencephaly (HP:0002132)1.84404830
87Hand muscle atrophy (HP:0009130)1.84325158
88Protruding ear (HP:0000411)1.82908241
89Aortic valve stenosis (HP:0001650)1.82200699
90Spinal cord lesions (HP:0100561)1.80631182
91Syringomyelia (HP:0003396)1.80631182
92Osteopenia (HP:0000938)1.80217575
93Congenital glaucoma (HP:0001087)1.78761721
94Abnormality of the hepatic vasculature (HP:0006707)1.78688275
95Joint stiffness (HP:0001387)1.76808970
96Premature skin wrinkling (HP:0100678)1.76591402
97Myocardial infarction (HP:0001658)1.75981017
98Dysautonomia (HP:0002459)1.75348782
99Bronchomalacia (HP:0002780)1.74850154
100* Ankyloglossia (HP:0010296)1.70595282

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR24.25055633
2IRAK33.49475657
3NTRK12.99651214
4PDGFRA2.39440552
5EPHB22.36733306
6PTK22.27004750
7EPHA22.16257295
8MET2.15065592
9TIE110.9414210
10MST1R1.89030644
11PTK2B1.87785081
12FLT31.76827126
13PAK41.68481292
14PRKG21.67766991
15MOS1.65762226
16KDR1.51187850
17TGFBR11.42366209
18LIMK11.37675009
19ARAF1.34949688
20RIPK11.33224749
21ERN11.30514048
22LATS21.30285687
23EPHB11.28613361
24TTN1.17832661
25DDR21.17128732
26TESK11.09279477
27ZAP701.06522312
28ERBB41.06225578
29TEC1.02398553
30STK381.01028186
31MYLK0.96285041
32PDGFRB0.93266981
33MAP3K130.86460512
34PIM20.86319260
35FER0.84663020
36TRPM70.84261404
37ROCK20.83324616
38SIK10.81768290
39PRKD20.81752184
40GRK50.79895447
41FES0.77387484
42RPS6KA20.72341722
43MAP2K30.70689568
44SCYL20.69765521
45PAK20.68507617
46LMTK20.64836561
47ICK0.64493687
48JAK30.64371593
49MAP3K30.64066771
50PKN20.63354428
51PRKD30.62795024
52LATS10.62713498
53ROCK10.61855092
54CSK0.61552424
55TRIB30.61028063
56KSR20.60475556
57STK100.59079032
58NEK90.58188352
59PTK60.56444123
60NME20.55049626
61ABL20.52501228
62TESK20.52261655
63PRPF4B0.47753994
64AKT30.45743262
65BMX0.44977068
66CDC42BPA0.43556840
67PAK60.41634109
68MAP3K90.39450618
69MAP3K140.39118212
70MTOR0.38992317
71MAP3K80.38759960
72MAP3K120.37271184
73CDK80.36456146
74PDPK10.35795964
75FGFR40.33998840
76GSK3A0.32519768
77SRC0.31818717
78BRAF0.31743783
79MAP3K10.31281210
80SMG10.30865032
81GRK10.30478843
82TAOK20.30338099
83DAPK30.29337580
84ILK0.29093563
85ADRBK10.26660288
86DYRK1B0.26221895
87CDK120.26090642
88JAK10.25216747
89TBK10.25136008
90EGFR0.24145730
91KSR10.23845495
92PLK20.23151467
93IGF1R0.22750960
94MAP3K110.22299844
95LRRK20.21918231
96PAK10.21034247
97CHUK0.20695238
98RPS6KL10.20065558
99RPS6KC10.20065558
100GRK60.19443398

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.98897633
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.82971502
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.78957336
4Focal adhesion_Homo sapiens_hsa045102.75606184
5Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.30504438
6Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.18757560
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.15935295
8* Bladder cancer_Homo sapiens_hsa052192.15277534
9Proteoglycans in cancer_Homo sapiens_hsa052052.13398663
10Small cell lung cancer_Homo sapiens_hsa052222.03803390
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.99797615
12Shigellosis_Homo sapiens_hsa051311.87877732
13Amoebiasis_Homo sapiens_hsa051461.87550820
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.80580773
15Malaria_Homo sapiens_hsa051441.71364518
16Dilated cardiomyopathy_Homo sapiens_hsa054141.67307103
17Regulation of actin cytoskeleton_Homo sapiens_hsa048101.61494641
18Pertussis_Homo sapiens_hsa051331.59402615
19Other glycan degradation_Homo sapiens_hsa005111.58619189
20Hematopoietic cell lineage_Homo sapiens_hsa046401.56110944
21Prion diseases_Homo sapiens_hsa050201.55522876
22Leukocyte transendothelial migration_Homo sapiens_hsa046701.54661100
23Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.47161525
24PI3K-Akt signaling pathway_Homo sapiens_hsa041511.45593973
25VEGF signaling pathway_Homo sapiens_hsa043701.44107977
26MicroRNAs in cancer_Homo sapiens_hsa052061.41042716
27Chronic myeloid leukemia_Homo sapiens_hsa052201.38642756
28Thyroid cancer_Homo sapiens_hsa052161.35460871
29TNF signaling pathway_Homo sapiens_hsa046681.25275307
30Adherens junction_Homo sapiens_hsa045201.22294268
31Protein digestion and absorption_Homo sapiens_hsa049741.18135317
32Salmonella infection_Homo sapiens_hsa051321.16791805
33Pancreatic cancer_Homo sapiens_hsa052121.13914011
34Axon guidance_Homo sapiens_hsa043601.13513091
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.09932024
36* Pathways in cancer_Homo sapiens_hsa052001.08037975
37Rap1 signaling pathway_Homo sapiens_hsa040151.06619580
38N-Glycan biosynthesis_Homo sapiens_hsa005101.04948102
39Lysosome_Homo sapiens_hsa041421.04444681
40Phagosome_Homo sapiens_hsa041451.03740416
41Complement and coagulation cascades_Homo sapiens_hsa046101.01644265
42Vibrio cholerae infection_Homo sapiens_hsa051100.99854235
43* Rheumatoid arthritis_Homo sapiens_hsa053230.98954536
44Sulfur metabolism_Homo sapiens_hsa009200.95765509
45Renal cell carcinoma_Homo sapiens_hsa052110.95397082
46Toxoplasmosis_Homo sapiens_hsa051450.95168261
47Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.93955696
48Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.93252709
49Platelet activation_Homo sapiens_hsa046110.91705447
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.91488032
51Glioma_Homo sapiens_hsa052140.89370451
52Melanoma_Homo sapiens_hsa052180.89280421
53HIF-1 signaling pathway_Homo sapiens_hsa040660.87986815
54Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.87974516
55TGF-beta signaling pathway_Homo sapiens_hsa043500.87146841
56Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81820650
57Estrogen signaling pathway_Homo sapiens_hsa049150.81673154
58Endocytosis_Homo sapiens_hsa041440.80680114
59Renin-angiotensin system_Homo sapiens_hsa046140.78981552
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.77888404
61GnRH signaling pathway_Homo sapiens_hsa049120.77470937
62Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.76673605
63Sphingolipid signaling pathway_Homo sapiens_hsa040710.76436542
64Notch signaling pathway_Homo sapiens_hsa043300.75847422
65ErbB signaling pathway_Homo sapiens_hsa040120.75228993
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73988485
67Neurotrophin signaling pathway_Homo sapiens_hsa047220.73316921
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72560301
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.71428481
70Apoptosis_Homo sapiens_hsa042100.69807737
71Ras signaling pathway_Homo sapiens_hsa040140.69046093
72Sphingolipid metabolism_Homo sapiens_hsa006000.67789049
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65708731
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63925478
75Gap junction_Homo sapiens_hsa045400.61820846
76Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61663588
77Acute myeloid leukemia_Homo sapiens_hsa052210.61228330
78African trypanosomiasis_Homo sapiens_hsa051430.59300894
79p53 signaling pathway_Homo sapiens_hsa041150.58768276
80Tight junction_Homo sapiens_hsa045300.58380227
81Endometrial cancer_Homo sapiens_hsa052130.57996824
82Prolactin signaling pathway_Homo sapiens_hsa049170.57697036
83Hepatitis B_Homo sapiens_hsa051610.56480346
84Hippo signaling pathway_Homo sapiens_hsa043900.55339284
85Non-small cell lung cancer_Homo sapiens_hsa052230.54487458
86Galactose metabolism_Homo sapiens_hsa000520.52156606
87Jak-STAT signaling pathway_Homo sapiens_hsa046300.51335269
88Prostate cancer_Homo sapiens_hsa052150.49654873
89Hepatitis C_Homo sapiens_hsa051600.46208549
90NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44835428
91Melanogenesis_Homo sapiens_hsa049160.43323713
92Leishmaniasis_Homo sapiens_hsa051400.42924551
93Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42396808
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41646628
95Toll-like receptor signaling pathway_Homo sapiens_hsa046200.41121008
96Influenza A_Homo sapiens_hsa051640.40821091
97Arginine biosynthesis_Homo sapiens_hsa002200.40457062
98Chemokine signaling pathway_Homo sapiens_hsa040620.39914653
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39061797
100NF-kappa B signaling pathway_Homo sapiens_hsa040640.38808196

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