MT1L

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular response to cadmium ion (GO:0071276)8.89574712
2membrane raft organization (GO:0031579)5.90764202
3regulation of metalloenzyme activity (GO:0048552)5.46456444
4negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.35850312
5* response to zinc ion (GO:0010043)4.33320081
6barbed-end actin filament capping (GO:0051016)4.27155305
7protein heterotetramerization (GO:0051290)4.24281408
8negative regulation of nitric-oxide synthase activity (GO:0051001)4.13410727
9fibrinolysis (GO:0042730)4.10227308
10regulation of integrin-mediated signaling pathway (GO:2001044)3.93823049
11response to cadmium ion (GO:0046686)3.91517321
12apoptotic cell clearance (GO:0043277)3.90238606
13cellular copper ion homeostasis (GO:0006878)3.88974664
14cell adhesion mediated by integrin (GO:0033627)3.82541248
15proteasome assembly (GO:0043248)3.71222737
16nucleotide-sugar biosynthetic process (GO:0009226)3.66632210
17eosinophil chemotaxis (GO:0048245)3.55091926
18skin morphogenesis (GO:0043589)3.53694505
19endodermal cell differentiation (GO:0035987)3.47347694
20cellular response to arsenic-containing substance (GO:0071243)3.34785658
21maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.34573780
22pyrimidine-containing compound salvage (GO:0008655)3.32890967
23pyrimidine nucleoside salvage (GO:0043097)3.32890967
24regulation of mononuclear cell migration (GO:0071675)3.28821813
25membrane budding (GO:0006900)3.28421416
26nucleobase-containing small molecule interconversion (GO:0015949)3.28002068
27copper ion homeostasis (GO:0055070)3.24449800
28UDP-N-acetylglucosamine metabolic process (GO:0006047)3.23145072
29protein retention in ER lumen (GO:0006621)3.19903470
30eosinophil migration (GO:0072677)3.09509874
31regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.07265069
32negative regulation of monooxygenase activity (GO:0032769)3.04132638
33regulation of apoptotic process involved in morphogenesis (GO:1902337)3.02346830
34regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.02142050
35cell migration involved in heart development (GO:0060973)3.01948037
36regulation of vitamin D biosynthetic process (GO:0060556)2.97817991
37peptidyl-proline hydroxylation (GO:0019511)2.94755789
38erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.94386451
39L-phenylalanine metabolic process (GO:0006558)2.94386451
40positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.94197324
41protein hydroxylation (GO:0018126)2.92982685
42negative regulation of nitric oxide biosynthetic process (GO:0045019)2.90261965
43negative regulation of coagulation (GO:0050819)2.89106778
44regulation of plasminogen activation (GO:0010755)2.86818853
45positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.84022444
46regulation of cellular amino acid metabolic process (GO:0006521)2.80045160
47decidualization (GO:0046697)2.79886734
48protein localization to endosome (GO:0036010)2.78709041
49protein maturation by protein folding (GO:0022417)2.78211785
50hyaluronan catabolic process (GO:0030214)2.77392011
51response to copper ion (GO:0046688)2.74857263
52nucleoside salvage (GO:0043174)2.72238722
53negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.69795027
54positive regulation of extracellular matrix organization (GO:1903055)2.68981560
55antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.64707981
56vagina development (GO:0060068)2.64700880
57cellular response to vitamin D (GO:0071305)2.60857374
58positive regulation of natural killer cell differentiation (GO:0032825)2.59819799
59negative regulation of response to reactive oxygen species (GO:1901032)2.59471718
60chondrocyte proliferation (GO:0035988)2.57830466
61antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.57714836
62negative regulation of ligase activity (GO:0051352)2.57058597
63negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.57058597
64negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.55702417
65natural killer cell mediated immunity (GO:0002228)2.54740048
66natural killer cell mediated cytotoxicity (GO:0042267)2.54740048
67positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.51868413
68positive regulation of vesicle fusion (GO:0031340)2.51371938
69regulation of macrophage chemotaxis (GO:0010758)2.45236169
70mesodermal cell differentiation (GO:0048333)2.45222697
71positive regulation of blood vessel endothelial cell migration (GO:0043536)2.44085487
72positive regulation of chemokine biosynthetic process (GO:0045080)2.42883853
73positive regulation of triglyceride lipase activity (GO:0061365)2.40728424
74positive regulation of lipoprotein lipase activity (GO:0051006)2.40728424
75substrate-dependent cell migration (GO:0006929)2.40693189
76negative regulation of protein localization to plasma membrane (GO:1903077)2.40587416
77response to redox state (GO:0051775)2.40511188
78regulation of vitamin metabolic process (GO:0030656)2.39670613
79response to magnesium ion (GO:0032026)2.39500521
80GDP-mannose metabolic process (GO:0019673)2.39271703
81mesenchymal-epithelial cell signaling (GO:0060638)2.38981800
82response to increased oxygen levels (GO:0036296)2.38744372
83response to hyperoxia (GO:0055093)2.38744372
84regulation of chemokine biosynthetic process (GO:0045073)2.38244180
85response to peptidoglycan (GO:0032494)2.36606140
86negative regulation of smooth muscle cell migration (GO:0014912)2.36310429
87hemidesmosome assembly (GO:0031581)2.35162493
88cellular response to vitamin (GO:0071295)2.34585528
89regulation of membrane protein ectodomain proteolysis (GO:0051043)2.34294723
90negative regulation of hemostasis (GO:1900047)2.31949770
91negative regulation of blood coagulation (GO:0030195)2.31949770
92positive regulation of cell junction assembly (GO:1901890)2.31436506
93positive regulation of focal adhesion assembly (GO:0051894)2.31436506
94endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.31354964
95positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.29152118
96regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.28315758
97negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.26314249
98COPI coating of Golgi vesicle (GO:0048205)2.25600686
99Golgi transport vesicle coating (GO:0048200)2.25600686
100* cellular response to zinc ion (GO:0071294)13.6147492

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.35134080
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.97340852
3SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.89037769
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.43986668
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.09035430
6SMAD_19615063_ChIP-ChIP_OVARY_Human2.98351629
7PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.93618914
8ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.86750300
9NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.72753789
10* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.72117476
11SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.44623597
12SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.44623597
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.37984142
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.37857452
15RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.35590860
16* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.33771292
17JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.32707049
18BRD4_25478319_ChIP-Seq_HGPS_Human2.26814516
19RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.21685443
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.10931925
21CJUN_26792858_Chip-Seq_BT549_Human2.08428095
22HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse2.08082859
23GABP_17652178_ChIP-ChIP_JURKAT_Human2.07140771
24CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.02817558
25TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.01700333
26GATA2_21666600_ChIP-Seq_HMVEC_Human2.01149210
27ELK3_25401928_ChIP-Seq_HUVEC_Human1.95138747
28PPAR_26484153_Chip-Seq_NCI-H1993_Human1.94854854
29EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.93173505
30TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.79832528
31ATF3_27146783_Chip-Seq_COLON_Human1.74030775
32JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.72974259
33SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.67026615
34SOX2_20726797_ChIP-Seq_SW620_Human1.63681544
35NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.61853206
36ELK1_22589737_ChIP-Seq_MCF10A_Human1.58056868
37MYB_21317192_ChIP-Seq_ERMYB_Mouse1.56143042
38CLOCK_20551151_ChIP-Seq_293T_Human1.55924860
39PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.54847772
40Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.52531460
41KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.51779054
42KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.50572515
43CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.42707283
44P63_26484246_Chip-Seq_KERATINOCYTES_Human1.42441710
45CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.42214477
46MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.39643830
47TFEB_21752829_ChIP-Seq_HELA_Human1.38335619
48UBF1/2_26484160_Chip-Seq_HMECs_Human1.38219263
49ELK1_19687146_ChIP-ChIP_HELA_Human1.35233214
50CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.33266604
51NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.33220069
52RXR_22158963_ChIP-Seq_LIVER_Mouse1.32006604
53ESR2_21235772_ChIP-Seq_MCF-7_Human1.28781609
54STAT6_21828071_ChIP-Seq_BEAS2B_Human1.28513731
55NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.28221337
56FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.26645703
57CSB_26484114_Chip-Seq_FIBROBLAST_Human1.24873442
58KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.23226573
59ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.22227064
60DCP1A_22483619_ChIP-Seq_HELA_Human1.21238158
61CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21217350
62UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.20549271
63TP53_18474530_ChIP-ChIP_U2OS_Human1.17953425
64SRY_22984422_ChIP-ChIP_TESTIS_Rat1.17110697
65SRF_21415370_ChIP-Seq_HL-1_Mouse1.16924059
66TBX5_21415370_ChIP-Seq_HL-1_Mouse1.16640583
67E2F1_18555785_ChIP-Seq_MESCs_Mouse1.14831998
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.14666100
69P300_27058665_Chip-Seq_ZR-75-30cells_Human1.14085212
70EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.11421528
71KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.11059865
72DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.09905821
73SMC1_22415368_ChIP-Seq_MEFs_Mouse1.08165512
74SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.07175531
75TP53_22127205_ChIP-Seq_IMR90_Human1.06427571
76STAT4_19710469_ChIP-ChIP_TH1__Mouse1.06361645
77PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05492350
78ETS1_20019798_ChIP-Seq_JURKAT_Human1.03225751
79STAT3_1855785_ChIP-Seq_MESCs_Mouse1.03130383
80MYC_18358816_ChIP-ChIP_MESCs_Mouse0.98997550
81ZNF263_19887448_ChIP-Seq_K562_Human0.97468075
82IRF8_21731497_ChIP-ChIP_J774_Mouse0.96965339
83SMC3_22415368_ChIP-Seq_MEFs_Mouse0.96327171
84IRF8_27001747_Chip-Seq_BMDM_Mouse0.94745055
85TET1_21451524_ChIP-Seq_MESCs_Mouse0.94343751
86FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.93922166
87RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.92485400
88CREB1_15753290_ChIP-ChIP_HEK293T_Human0.92422150
89NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.92392064
90ESR1_21235772_ChIP-Seq_MCF-7_Human0.89682377
91PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.89589232
92CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89185135
93SA1_22415368_ChIP-Seq_MEFs_Mouse0.88462493
94FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.88075428
95KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87498990
96SALL4_18804426_ChIP-ChIP_XEN_Mouse0.86969941
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86879574
98NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86879574
99AR_21909140_ChIP-Seq_LNCAP_Human0.86760940
100ELF5_23300383_ChIP-Seq_T47D_Human0.86304748

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003950_abnormal_plasma_membrane5.61907333
2MP0008438_abnormal_cutaneous_collagen4.26030150
3MP0003806_abnormal_nucleotide_metabolis3.97459284
4MP0003191_abnormal_cellular_cholesterol3.23334691
5MP0003705_abnormal_hypodermis_morpholog3.09513593
6MP0010368_abnormal_lymphatic_system2.88263114
7MP0003279_aneurysm2.85531427
8MP0009840_abnormal_foam_cell2.80548239
9MP0005360_urolithiasis2.67502659
10MP0006054_spinal_hemorrhage2.58036095
11MP0004272_abnormal_basement_membrane2.50453508
12MP0005023_abnormal_wound_healing2.47034578
13MP0003566_abnormal_cell_adhesion2.44563694
14MP0000343_altered_response_to2.30864595
15MP0001853_heart_inflammation2.24638598
16MP0000858_altered_metastatic_potential2.17183802
17MP0009780_abnormal_chondrocyte_physiolo2.11390303
18MP0005623_abnormal_meninges_morphology1.95813655
19MP0003186_abnormal_redox_activity1.88844045
20MP0005164_abnormal_response_to1.86861589
21MP0005595_abnormal_vascular_smooth1.75060214
22MP0009785_altered_susceptibility_to1.74898518
23MP0002295_abnormal_pulmonary_circulatio1.69985653
24MP0001958_emphysema1.69936946
25MP0003448_altered_tumor_morphology1.69153855
26MP0003091_abnormal_cell_migration1.67280170
27MP0003828_pulmonary_edema1.66272074
28MP0000750_abnormal_muscle_regeneration1.64329685
29MP0004883_abnormal_blood_vessel1.53802937
30MP0000749_muscle_degeneration1.51052952
31MP0001542_abnormal_bone_strength1.48935841
32MP0004233_abnormal_muscle_weight1.48376992
33MP0009697_abnormal_copulation1.47083882
34MP0009053_abnormal_anal_canal1.47028501
35MP0001879_abnormal_lymphatic_vessel1.46812234
36MP0005275_abnormal_skin_tensile1.41591971
37MP0004510_myositis1.40881196
38MP0008260_abnormal_autophagy1.40267566
39MP0002148_abnormal_hypersensitivity_rea1.38381192
40MP0003075_altered_response_to1.35959118
41MP0006082_CNS_inflammation1.35415320
42MP0001849_ear_inflammation1.27423207
43MP0005257_abnormal_intraocular_pressure1.23726390
44MP0002933_joint_inflammation1.22930732
45MP0000733_abnormal_muscle_development1.22689169
46MP0003453_abnormal_keratinocyte_physiol1.22140609
47MP0005165_increased_susceptibility_to1.21361775
48MP0002060_abnormal_skin_morphology1.18694068
49MP0005058_abnormal_lysosome_morphology1.17101863
50MP0009764_decreased_sensitivity_to1.15487592
51MP0001533_abnormal_skeleton_physiology1.13939392
52MP0003436_decreased_susceptibility_to1.13890493
53MP0000762_abnormal_tongue_morphology1.08671658
54MP0005451_abnormal_body_composition1.04668429
55MP0003941_abnormal_skin_development1.02779372
56MP0000767_abnormal_smooth_muscle1.01654707
57MP0005166_decreased_susceptibility_to0.99297866
58MP0002332_abnormal_exercise_endurance0.97515971
59MP0005464_abnormal_platelet_physiology0.96864878
60MP0002896_abnormal_bone_mineralization0.94835886
61MP0005503_abnormal_tendon_morphology0.91126060
62MP0000358_abnormal_cell_content/0.90053788
63MP0002877_abnormal_melanocyte_morpholog0.87013332
64MP0001299_abnormal_eye_distance/0.86766028
65MP0000249_abnormal_blood_vessel0.86604849
66MP0002998_abnormal_bone_remodeling0.86487038
67MP0000013_abnormal_adipose_tissue0.85825736
68MP0010386_abnormal_urinary_bladder0.85116312
69MP0000759_abnormal_skeletal_muscle0.84602143
70MP0001243_abnormal_dermal_layer0.84254715
71MP0002837_dystrophic_cardiac_calcinosis0.83930432
72MP0003195_calcinosis0.82531872
73MP0008007_abnormal_cellular_replicative0.81473211
74MP0000678_abnormal_parathyroid_gland0.79627500
75MP0000747_muscle_weakness0.79154360
76MP0005390_skeleton_phenotype0.78062999
77MP0002972_abnormal_cardiac_muscle0.77471394
78MP0001216_abnormal_epidermal_layer0.76240898
79MP0005330_cardiomyopathy0.76146801
80MP0009763_increased_sensitivity_to0.75386532
81MP0002139_abnormal_hepatobiliary_system0.73690307
82MP0000751_myopathy0.71947102
83MP0002419_abnormal_innate_immunity0.71915722
84MP0001545_abnormal_hematopoietic_system0.71075977
85MP0005397_hematopoietic_system_phenotyp0.71075977
86MP0001915_intracranial_hemorrhage0.71064070
87MP0004947_skin_inflammation0.70662667
88MP0010030_abnormal_orbit_morphology0.70325061
89MP0008469_abnormal_protein_level0.69544854
90MP0003795_abnormal_bone_structure0.66958608
91MP0001845_abnormal_inflammatory_respons0.66688476
92MP0000685_abnormal_immune_system0.64892822
93MP0005508_abnormal_skeleton_morphology0.62491579
94MP0008875_abnormal_xenobiotic_pharmacok0.61543997
95MP0005197_abnormal_uvea_morphology0.61371060
96MP0005584_abnormal_enzyme/coenzyme_acti0.59908354
97MP0010352_gastrointestinal_tract_polyps0.59297688
98MP0008004_abnormal_stomach_pH0.58599757
99MP0005193_abnormal_anterior_eye0.58228016
100MP0006036_abnormal_mitochondrial_physio0.57773762

Predicted human phenotypes

RankGene SetZ-score
1Vascular tortuosity (HP:0004948)4.62272674
2Premature rupture of membranes (HP:0001788)4.61058438
3Abnormality of aromatic amino acid family metabolism (HP:0004338)3.93900073
4Aortic aneurysm (HP:0004942)3.71499273
5Protrusio acetabuli (HP:0003179)3.63766464
6Abnormality of placental membranes (HP:0011409)3.51128323
7Amniotic constriction ring (HP:0009775)3.51128323
8Vertebral compression fractures (HP:0002953)3.50557437
9Abnormality of liposaccharide metabolism (HP:0010968)3.45983598
10Abnormality of glycosphingolipid metabolism (HP:0004343)3.45983598
11Abnormality of glycolipid metabolism (HP:0010969)3.45983598
12Arterial tortuosity (HP:0005116)3.24042773
13Reduced subcutaneous adipose tissue (HP:0003758)3.17511715
14Aortic dissection (HP:0002647)3.15676928
15Atrophic scars (HP:0001075)2.97852832
16Follicular hyperkeratosis (HP:0007502)2.96255131
17Axonal loss (HP:0003447)2.92837567
18Ankle contracture (HP:0006466)2.88738351
19Spondylolisthesis (HP:0003302)2.77309681
20Generalized amyotrophy (HP:0003700)2.72651328
21Wormian bones (HP:0002645)2.67732964
22Distal lower limb muscle weakness (HP:0009053)2.65744861
23Cervical subluxation (HP:0003308)2.59140313
24Spinal rigidity (HP:0003306)2.56038314
25Hypokinesia (HP:0002375)2.47416908
26Mitral stenosis (HP:0001718)2.47021679
27Osteolytic defects of the phalanges of the hand (HP:0009771)2.43182938
28Osteolytic defects of the hand bones (HP:0009699)2.43182938
29Abnormality of the intrinsic pathway (HP:0010989)2.38159812
30Cardiovascular calcification (HP:0011915)2.38014515
31Bladder diverticulum (HP:0000015)2.36222504
32Esophageal neoplasm (HP:0100751)2.32896146
33Neoplasm of head and neck (HP:0012288)2.32896146
34Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.32534627
35Distal upper limb amyotrophy (HP:0007149)2.23536181
36Upper limb amyotrophy (HP:0009129)2.23536181
37Abnormalities of placenta or umbilical cord (HP:0001194)2.21101910
38Type 1 muscle fiber predominance (HP:0003803)2.18556402
39Elbow flexion contracture (HP:0002987)2.18350279
40Generalized aminoaciduria (HP:0002909)2.17998727
41Fragile skin (HP:0001030)2.17499705
42Soft skin (HP:0000977)2.17377129
43Myocardial infarction (HP:0001658)2.16787577
44Petechiae (HP:0000967)2.16511579
45Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.11876081
46Decreased activity of mitochondrial respiratory chain (HP:0008972)2.11876081
47Delayed gross motor development (HP:0002194)2.11728539
48Renal Fanconi syndrome (HP:0001994)2.10170524
49Vascular calcification (HP:0004934)2.10000738
50Popliteal pterygium (HP:0009756)2.09094730
51Rough bone trabeculation (HP:0100670)2.08438423
52Dilatation of the ascending aorta (HP:0005111)2.08122413
53Blue sclerae (HP:0000592)2.07996913
54Abnormality of dentin (HP:0010299)2.07313192
55Tetraparesis (HP:0002273)2.06659366
56Nemaline bodies (HP:0003798)2.04904765
57Aortic valve stenosis (HP:0001650)2.04443219
58Trismus (HP:0000211)2.03063092
59Glucose intolerance (HP:0000833)2.02816631
60Vacuolated lymphocytes (HP:0001922)2.02416454
61Abnormal platelet function (HP:0011869)2.01345795
62Impaired platelet aggregation (HP:0003540)2.01345795
63Mitral regurgitation (HP:0001653)2.01180890
64Neck muscle weakness (HP:0000467)2.00981108
65Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.98176137
66Reduced antithrombin III activity (HP:0001976)1.96763260
67Menorrhagia (HP:0000132)1.95607826
68Malnutrition (HP:0004395)1.95219681
69Mildly elevated creatine phosphokinase (HP:0008180)1.92949158
70Conjunctival telangiectasia (HP:0000524)1.91383664
71Weak cry (HP:0001612)1.91148320
72Bone cyst (HP:0012062)1.90898591
73Cerebral hemorrhage (HP:0001342)1.88580981
74Aortic regurgitation (HP:0001659)1.88444761
75Orthostatic hypotension (HP:0001278)1.88294530
76Acute necrotizing encephalopathy (HP:0006965)1.87891717
77Slender build (HP:0001533)1.87192665
78Aplastic anemia (HP:0001915)1.86940894
79Nuclear cataract (HP:0100018)1.85653203
80Abnormality of the umbilical cord (HP:0010881)1.85286405
81Systemic lupus erythematosus (HP:0002725)1.83271565
82Muscle fiber splitting (HP:0003555)1.81882801
83Mucosal telangiectasiae (HP:0100579)1.81866503
84Hypertensive crisis (HP:0100735)1.81847998
85Pterygium (HP:0001059)1.81662786
86Abnormal mitochondria in muscle tissue (HP:0008316)1.81164124
87Wrist flexion contracture (HP:0001239)1.80498014
88Aplasia of the musculature (HP:0100854)1.78758931
89Bulbar palsy (HP:0001283)1.78527623
90Fatigable weakness (HP:0003473)1.76909267
91Abnormality of the neuromuscular junction (HP:0003398)1.76909267
92Distal lower limb amyotrophy (HP:0008944)1.74719918
93Ovoid vertebral bodies (HP:0003300)1.74492932
94Abnormal trabecular bone morphology (HP:0100671)1.74439675
95Oral leukoplakia (HP:0002745)1.73550074
96Congenital ichthyosiform erythroderma (HP:0007431)1.73200816
97Increased serum ferritin (HP:0003281)1.72701685
98Progressive neurologic deterioration (HP:0002344)1.72612292
99Knee flexion contracture (HP:0006380)1.72591608
100Abnormal gallbladder physiology (HP:0012438)1.71706855

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK4.38619820
2MAP3K124.13991715
3NME23.23897121
4LIMK13.01111842
5PAK42.95242009
6MUSK2.86501061
7TESK12.82714912
8TGFBR22.73303167
9EPHB22.73291624
10IRAK32.71248691
11BUB12.34106001
12LATS22.30560252
13PTK22.29721832
14MAP3K32.26057222
15ARAF2.21627789
16EIF2AK12.18484087
17ILK2.03474033
18FLT31.96657038
19MOS1.96478250
20EPHA21.87417054
21MST1R1.86884839
22DDR21.85751930
23ERBB41.79771094
24ABL21.77830810
25MET1.68891413
26CDK81.68430404
27PBK1.65757120
28PDGFRA1.64697720
29EIF2AK31.55959389
30MST41.51860495
31NTRK11.43129502
32STK161.42318081
33GRK71.33098411
34NEK11.25385653
35PAK21.20910942
36LMTK21.06607263
37PIM21.06431099
38PTK2B1.06362856
39ROCK11.04900158
40TAOK20.99447130
41EPHB10.99292003
42DAPK30.98342979
43STK380.97672016
44PAK10.94551903
45VRK20.93919449
46PRKG20.93546779
47ZAP700.89624223
48PAK60.86532121
49TTN0.84241073
50ROCK20.82097940
51TESK20.81324217
52ERN10.81141336
53KDR0.76812878
54CDK90.74085285
55MAP3K90.69332971
56TBK10.69104991
57ADRBK10.66490006
58MAPKAPK30.66470070
59TGFBR10.66351081
60BMPR20.65687396
61BMX0.65283809
62CAMK2G0.64842982
63PIK3CG0.60799253
64PDGFRB0.58640236
65BCKDK0.54925153
66STK240.54641470
67STK100.53011677
68DAPK10.48771508
69MAP3K80.47380812
70MAP2K30.45335238
71DMPK0.44740131
72MAP3K130.43945498
73TRPM70.41947846
74CAMK2D0.41926266
75JAK30.39724195
76BRAF0.38389067
77BLK0.38134742
78CLK10.37347681
79NEK90.37285839
80TYK20.36459919
81GSK3A0.36353717
82STK40.36309585
83ABL10.36004171
84IKBKB0.35950273
85TRIB30.33450684
86PDK20.33395625
87CSK0.32550520
88CDC42BPA0.31416200
89MAPKAPK20.29993103
90PRKD20.29301278
91PRKCD0.28994407
92MAP2K10.28192891
93KSR20.27706004
94AURKA0.26070077
95MAP3K20.25915099
96KSR10.25497864
97RAF10.25180889
98INSR0.23255554
99STK38L0.22218463
100LATS10.21768842

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.49262106
2Mineral absorption_Homo sapiens_hsa049784.39785243
3Sulfur metabolism_Homo sapiens_hsa009203.24647167
4Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.75089738
5Protein export_Homo sapiens_hsa030602.20142977
6Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.11859535
7Folate biosynthesis_Homo sapiens_hsa007902.09857618
8Vibrio cholerae infection_Homo sapiens_hsa051102.06945984
9Pathogenic Escherichia coli infection_Homo sapiens_hsa051302.06242104
10Salmonella infection_Homo sapiens_hsa051322.04500996
11Shigellosis_Homo sapiens_hsa051311.97034980
12Oxidative phosphorylation_Homo sapiens_hsa001901.92729915
13Legionellosis_Homo sapiens_hsa051341.88798480
14Malaria_Homo sapiens_hsa051441.88045284
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.87725933
16Rheumatoid arthritis_Homo sapiens_hsa053231.86756547
17Complement and coagulation cascades_Homo sapiens_hsa046101.75285145
18Glutathione metabolism_Homo sapiens_hsa004801.66488099
19Galactose metabolism_Homo sapiens_hsa000521.66260306
20Other glycan degradation_Homo sapiens_hsa005111.56610808
21ECM-receptor interaction_Homo sapiens_hsa045121.56045182
22Pertussis_Homo sapiens_hsa051331.53382390
23Glycosaminoglycan degradation_Homo sapiens_hsa005311.47778290
24SNARE interactions in vesicular transport_Homo sapiens_hsa041301.47624205
25Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.47021611
26Lysosome_Homo sapiens_hsa041421.44134540
27Collecting duct acid secretion_Homo sapiens_hsa049661.44116701
28Focal adhesion_Homo sapiens_hsa045101.40949549
29Prion diseases_Homo sapiens_hsa050201.40689902
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.40522980
31Fructose and mannose metabolism_Homo sapiens_hsa000511.34760094
32Parkinsons disease_Homo sapiens_hsa050121.33316775
33Sulfur relay system_Homo sapiens_hsa041221.27459823
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.24578655
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.24500049
36Phagosome_Homo sapiens_hsa041451.23760630
37Proteoglycans in cancer_Homo sapiens_hsa052051.21703109
38Amoebiasis_Homo sapiens_hsa051461.19513505
39TNF signaling pathway_Homo sapiens_hsa046681.13775661
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.13602875
41Regulation of actin cytoskeleton_Homo sapiens_hsa048101.10976220
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.10309253
43Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.07892127
44Alzheimers disease_Homo sapiens_hsa050101.04103030
45Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.02630751
46Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.02300741
47Bladder cancer_Homo sapiens_hsa052191.01443548
48Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.98245224
49Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.97748013
50N-Glycan biosynthesis_Homo sapiens_hsa005100.97328920
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92101101
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.92041819
53Pentose phosphate pathway_Homo sapiens_hsa000300.89179080
54Huntingtons disease_Homo sapiens_hsa050160.88139781
55Fatty acid elongation_Homo sapiens_hsa000620.84482791
56Pyrimidine metabolism_Homo sapiens_hsa002400.83137553
57NOD-like receptor signaling pathway_Homo sapiens_hsa046210.80305259
58Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.79703629
59Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.75788595
60Phenylalanine metabolism_Homo sapiens_hsa003600.73266715
61Chemical carcinogenesis_Homo sapiens_hsa052040.72841361
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72500564
63AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.70815036
64Ribosome_Homo sapiens_hsa030100.70493705
65Hematopoietic cell lineage_Homo sapiens_hsa046400.70082546
66Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.69024958
67p53 signaling pathway_Homo sapiens_hsa041150.68162543
68PPAR signaling pathway_Homo sapiens_hsa033200.66623456
69Tyrosine metabolism_Homo sapiens_hsa003500.65927331
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65736960
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.64695452
72African trypanosomiasis_Homo sapiens_hsa051430.64265992
73Dilated cardiomyopathy_Homo sapiens_hsa054140.61992706
74Toll-like receptor signaling pathway_Homo sapiens_hsa046200.61450248
75Sphingolipid metabolism_Homo sapiens_hsa006000.57985773
76Endocytosis_Homo sapiens_hsa041440.56890057
77Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51241639
78NF-kappa B signaling pathway_Homo sapiens_hsa040640.49026341
79Carbon metabolism_Homo sapiens_hsa012000.48594480
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.47213390
81Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44404794
82Leukocyte transendothelial migration_Homo sapiens_hsa046700.44226180
83Synaptic vesicle cycle_Homo sapiens_hsa047210.43643352
84Starch and sucrose metabolism_Homo sapiens_hsa005000.42990596
85Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41495544
86Tuberculosis_Homo sapiens_hsa051520.37127302
87Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.37023364
88Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36278182
89Osteoclast differentiation_Homo sapiens_hsa043800.34613319
90Metabolic pathways_Homo sapiens_hsa011000.32585263
91Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31934458
92Biosynthesis of amino acids_Homo sapiens_hsa012300.31839979
93HIF-1 signaling pathway_Homo sapiens_hsa040660.29205840
94Renal cell carcinoma_Homo sapiens_hsa052110.28960163
95Adherens junction_Homo sapiens_hsa045200.28645668
96Small cell lung cancer_Homo sapiens_hsa052220.27424316
97Apoptosis_Homo sapiens_hsa042100.25848470
98Arginine and proline metabolism_Homo sapiens_hsa003300.24442589
99Vitamin B6 metabolism_Homo sapiens_hsa007500.22682469
100Chemokine signaling pathway_Homo sapiens_hsa040620.22437771

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