CD59

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 cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell adhesion mediated by integrin (GO:0033627)5.11005690
2hemidesmosome assembly (GO:0031581)4.70344503
3skin morphogenesis (GO:0043589)4.29425930
4regulation of metalloenzyme activity (GO:0048552)4.28389944
5regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.18948010
6regulation of integrin-mediated signaling pathway (GO:2001044)4.13962907
7regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.09743216
8COPI coating of Golgi vesicle (GO:0048205)4.02589222
9Golgi transport vesicle coating (GO:0048200)4.02589222
10desmosome organization (GO:0002934)3.90963993
11type B pancreatic cell proliferation (GO:0044342)3.61874562
12protein localization to endosome (GO:0036010)3.61505064
13sequestering of extracellular ligand from receptor (GO:0035581)3.57475970
14substrate-dependent cell migration (GO:0006929)3.54070886
15endodermal cell differentiation (GO:0035987)3.49850170
16wound healing, spreading of epidermal cells (GO:0035313)3.48812126
17membrane raft organization (GO:0031579)3.46586355
18barbed-end actin filament capping (GO:0051016)3.37612147
19extracellular fibril organization (GO:0043206)3.37298580
20chondrocyte proliferation (GO:0035988)3.36448427
21protein maturation by protein folding (GO:0022417)3.28607286
22apoptotic cell clearance (GO:0043277)3.26258624
23cellular response to vitamin D (GO:0071305)3.25681898
24cellular response to vitamin (GO:0071295)3.25298034
25retina vasculature morphogenesis in camera-type eye (GO:0061299)3.23585146
26positive regulation of actin filament depolymerization (GO:0030836)3.20406493
27regulation of extracellular matrix disassembly (GO:0010715)3.03008300
28keratan sulfate catabolic process (GO:0042340)3.02077255
29protein retention in ER lumen (GO:0006621)3.01913257
30regulation of transforming growth factor beta1 production (GO:0032908)2.99000482
31regulation of type B pancreatic cell apoptotic process (GO:2000674)2.97702470
32maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.95146509
33fibril organization (GO:0097435)2.94489717
34actin filament depolymerization (GO:0030042)2.91625568
35mesodermal cell differentiation (GO:0048333)2.89688448
36extracellular regulation of signal transduction (GO:1900115)2.89169561
37extracellular negative regulation of signal transduction (GO:1900116)2.89169561
38COPII vesicle coating (GO:0048208)2.88185903
39UDP-N-acetylglucosamine metabolic process (GO:0006047)2.85745275
40hypotonic response (GO:0006971)2.85039914
41collagen fibril organization (GO:0030199)2.84510065
42muscle cell migration (GO:0014812)2.83600236
43negative regulation of chondrocyte differentiation (GO:0032331)2.81715098
44cell-substrate junction assembly (GO:0007044)2.80476731
45regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.80110563
46regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.79792556
47adhesion of symbiont to host cell (GO:0044650)2.79464592
48virion attachment to host cell (GO:0019062)2.79464592
49dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.74064412
50fibrinolysis (GO:0042730)2.72034351
51regulation of plasminogen activation (GO:0010755)2.70183818
52hyaluronan catabolic process (GO:0030214)2.65406037
53iron ion import (GO:0097286)2.63702696
54endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.60143813
55axonemal dynein complex assembly (GO:0070286)2.59507936
56negative regulation of nitric-oxide synthase activity (GO:0051001)2.59210319
57kidney mesenchyme development (GO:0072074)2.59087638
58regulation of collagen metabolic process (GO:0010712)2.57739913
59negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.57261851
60wound healing, spreading of cells (GO:0044319)2.56264939
61glomerular epithelial cell development (GO:0072310)2.55144873
62regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.54374533
63negative regulation of anoikis (GO:2000811)2.52379066
64extracellular matrix disassembly (GO:0022617)2.52277047
65blood vessel maturation (GO:0001955)2.51536009
66positive regulation of osteoblast proliferation (GO:0033690)2.51178521
67regulation of membrane protein ectodomain proteolysis (GO:0051043)2.50007046
68vascular endothelial growth factor signaling pathway (GO:0038084)2.49374388
69negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.47789144
70positive regulation of blood vessel endothelial cell migration (GO:0043536)2.47752557
71smooth muscle tissue development (GO:0048745)2.47440599
72substrate adhesion-dependent cell spreading (GO:0034446)2.46326361
73adhesion of symbiont to host (GO:0044406)2.44783806
74positive regulation of receptor recycling (GO:0001921)2.40622309
75cellular copper ion homeostasis (GO:0006878)2.40529319
76metanephric mesenchyme development (GO:0072075)2.40386311
77extracellular matrix assembly (GO:0085029)2.39677259
78mesenchymal-epithelial cell signaling (GO:0060638)2.38061141
79collagen metabolic process (GO:0032963)2.35824594
80endocrine hormone secretion (GO:0060986)2.34310497
81cellular response to zinc ion (GO:0071294)2.33470429
82macroautophagy (GO:0016236)2.33299068
83vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.31431042
84extracellular matrix organization (GO:0030198)2.31027287
85extracellular structure organization (GO:0043062)2.30008448
86positive regulation of protein autophosphorylation (GO:0031954)2.29643753
87protein hydroxylation (GO:0018126)2.29558585
88endothelial cell morphogenesis (GO:0001886)2.29444730
89basement membrane organization (GO:0071711)2.29400912
90protein heterotrimerization (GO:0070208)2.28844209
91endosome to melanosome transport (GO:0035646)2.28374553
92endosome to pigment granule transport (GO:0043485)2.28374553
93sprouting angiogenesis (GO:0002040)2.27311200
94vesicle coating (GO:0006901)2.27196508
95positive regulation of collagen biosynthetic process (GO:0032967)2.27031849
96positive regulation of endothelial cell apoptotic process (GO:2000353)2.26904123
97response to gravity (GO:0009629)2.26770192
98negative regulation of coagulation (GO:0050819)2.26402282
99inositol phosphate-mediated signaling (GO:0048016)2.26381680
100lymphangiogenesis (GO:0001946)2.24531214

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.58296217
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse5.08048361
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.89924240
4* SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.52570123
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.30059833
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.27720143
7SMAD_19615063_ChIP-ChIP_OVARY_Human2.97558444
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.89022038
9CJUN_26792858_Chip-Seq_BT549_Human2.77635493
10* GATA2_21666600_ChIP-Seq_HMVEC_Human2.62715462
11* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.44184919
12* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.44184919
13* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.40894970
14* BRD4_25478319_ChIP-Seq_HGPS_Human2.38662107
15* SOX2_20726797_ChIP-Seq_SW620_Human2.15372632
16* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.13570511
17CLOCK_20551151_ChIP-Seq_293T_Human2.10490256
18ESR1_21235772_ChIP-Seq_MCF-7_Human2.09506142
19PPAR_26484153_Chip-Seq_NCI-H1993_Human2.04460679
20EP300_21415370_ChIP-Seq_HL-1_Mouse2.04267957
21ESR2_21235772_ChIP-Seq_MCF-7_Human2.03653814
22ZNF217_24962896_ChIP-Seq_MCF-7_Human2.02629896
23ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.00466200
24JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.99486480
25JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.96234522
26CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.95448898
27HIF1A_21447827_ChIP-Seq_MCF-7_Human1.92940044
28RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.88216739
29TP53_18474530_ChIP-ChIP_U2OS_Human1.84627863
30CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.82372787
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.75627462
32NRF2_20460467_ChIP-Seq_MEFs_Mouse1.75512950
33NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.75512950
34SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.71507113
35SOX9_24532713_ChIP-Seq_HFSC_Mouse1.57951694
36* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.53244558
37* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.50316396
38BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.46899243
39TBX20_22328084_ChIP-Seq_HEART_Mouse1.46019149
40TBX20_22080862_ChIP-Seq_HEART_Mouse1.46019149
41Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.45278625
42* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.44765950
43SALL4_18804426_ChIP-ChIP_XEN_Mouse1.43514177
44TP63_23658742_ChIP-Seq_EP156T_Human1.43012412
45FOXO3_23340844_ChIP-Seq_DLD1_Human1.41112652
46TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40034400
47WT1_19549856_ChIP-ChIP_CCG9911_Human1.39830942
48* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.38819191
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28196267
50ZNF263_19887448_ChIP-Seq_K562_Human1.25984627
51RXR_22158963_ChIP-Seq_LIVER_Mouse1.24984608
52ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.24513327
53AHR_22903824_ChIP-Seq_MCF-7_Human1.23406112
54MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.22640813
55* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.22534660
56ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.20564651
57SOX2_27498859_Chip-Seq_STOMACH_Mouse1.19974887
58ELK3_25401928_ChIP-Seq_HUVEC_Human1.18456481
59FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.18371648
60P300_27058665_Chip-Seq_ZR-75-30cells_Human1.15381358
61NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.13431187
62LXR_22158963_ChIP-Seq_LIVER_Mouse1.13405044
63ESR1_20079471_ChIP-ChIP_T-47D_Human1.13270102
64TP53_16413492_ChIP-PET_HCT116_Human1.12107656
65FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.10669272
66NFIB_24661679_ChIP-Seq_LUNG_Mouse1.09784926
67UBF1/2_26484160_Chip-Seq_HMECs_Human1.09725871
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.09233886
69* ATF3_27146783_Chip-Seq_COLON_Human1.08531503
70FOXM1_26456572_ChIP-Seq_MCF-7_Human1.08213461
71* GATA3_24758297_ChIP-Seq_MCF-7_Human1.02617344
72STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.98886551
73EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.98382466
74ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98362331
75PIAS1_25552417_ChIP-Seq_VCAP_Human0.98130878
76* GATA4_25053715_ChIP-Seq_YYC3_Human0.97603711
77CDX2_20551321_ChIP-Seq_CACO-2_Human0.95142442
78ARNT_22903824_ChIP-Seq_MCF-7_Human0.94654068
79TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.94356994
80PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.94067161
81SMC1_22415368_ChIP-Seq_MEFs_Mouse0.92487810
82NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.91349984
83FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.90050062
84CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89856798
85ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.87422615
86NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.87054823
87PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.85886066
88RACK7_27058665_Chip-Seq_MCF-7_Human0.85750603
89ELK1_22589737_ChIP-Seq_MCF10A_Human0.85363343
90TP53_23651856_ChIP-Seq_MEFs_Mouse0.84393153
91PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83872851
92TP53_22127205_ChIP-Seq_IMR90_Human0.83799032
93CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83657448
94HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.81756328
95FOXA2_19822575_ChIP-Seq_HepG2_Human0.77334998
96CDX2_22108803_ChIP-Seq_LS180_Human0.75742750
97PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.75295003
98PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.74750697
99WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.74077435
100EOMES_21245162_ChIP-Seq_HESCs_Human0.73801514

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.53854645
2MP0003950_abnormal_plasma_membrane3.80862695
3MP0009780_abnormal_chondrocyte_physiolo3.77445741
4MP0004272_abnormal_basement_membrane3.75500129
5MP0010368_abnormal_lymphatic_system3.21150341
6MP0005275_abnormal_skin_tensile3.12462540
7MP0003279_aneurysm3.00844848
8MP0003566_abnormal_cell_adhesion3.00459465
9MP0003705_abnormal_hypodermis_morpholog2.86003876
10MP0006054_spinal_hemorrhage2.70085261
11MP0001958_emphysema2.66892122
12MP0005623_abnormal_meninges_morphology2.58458346
13MP0000013_abnormal_adipose_tissue2.36812264
14MP0002877_abnormal_melanocyte_morpholog2.36379210
15MP0005257_abnormal_intraocular_pressure2.36013183
16MP0005023_abnormal_wound_healing2.23325054
17MP0010234_abnormal_vibrissa_follicle2.19856035
18MP0003191_abnormal_cellular_cholesterol2.09118166
19MP0002060_abnormal_skin_morphology2.01305377
20MP0005503_abnormal_tendon_morphology1.99951675
21MP0003300_gastrointestinal_ulcer1.96345637
22MP0005165_increased_susceptibility_to1.93095206
23MP0002295_abnormal_pulmonary_circulatio1.90554919
24MP0010352_gastrointestinal_tract_polyps1.86652392
25MP0001542_abnormal_bone_strength1.85543882
26MP0010386_abnormal_urinary_bladder1.83173826
27MP0009840_abnormal_foam_cell1.77112955
28MP0003091_abnormal_cell_migration1.74916847
29MP0001879_abnormal_lymphatic_vessel1.70423987
30MP0003941_abnormal_skin_development1.60808266
31MP0002896_abnormal_bone_mineralization1.56019968
32MP0005058_abnormal_lysosome_morphology1.52261746
33MP0000767_abnormal_smooth_muscle1.45337128
34MP0005595_abnormal_vascular_smooth1.44817145
35MP0002168_other_aberrant_phenotype1.44378090
36MP0000751_myopathy1.39975706
37MP0000343_altered_response_to1.39408591
38MP0000749_muscle_degeneration1.34457380
39MP0001299_abnormal_eye_distance/1.34411557
40MP0005164_abnormal_response_to1.33698980
41MP0003075_altered_response_to1.27201320
42MP0005171_absent_coat_pigmentation1.24257915
43MP0005408_hypopigmentation1.19299831
44MP0000003_abnormal_adipose_tissue1.18892369
45MP0001243_abnormal_dermal_layer1.16581979
46MP0005508_abnormal_skeleton_morphology1.16498699
47MP0009384_cardiac_valve_regurgitation1.13356876
48MP0003045_fibrosis1.11824432
49MP0004084_abnormal_cardiac_muscle1.10298595
50MP0005330_cardiomyopathy1.05010536
51MP0010030_abnormal_orbit_morphology1.03870647
52MP0002332_abnormal_exercise_endurance1.03657584
53MP0004510_myositis1.02499610
54MP0003453_abnormal_keratinocyte_physiol1.00265081
55MP0000762_abnormal_tongue_morphology0.99454243
56MP0003828_pulmonary_edema0.97764434
57MP0002837_dystrophic_cardiac_calcinosis0.93318942
58MP0001756_abnormal_urination0.92198484
59MP0002796_impaired_skin_barrier0.87070412
60MP0001849_ear_inflammation0.81165482
61MP0002972_abnormal_cardiac_muscle0.80953551
62MP0000733_abnormal_muscle_development0.80611948
63MP0008775_abnormal_heart_ventricle0.80270835
64MP0005166_decreased_susceptibility_to0.79984794
65MP0008875_abnormal_xenobiotic_pharmacok0.79616249
66MP0004036_abnormal_muscle_relaxation0.78608699
67MP0005197_abnormal_uvea_morphology0.77560472
68MP0001216_abnormal_epidermal_layer0.77430218
69MP0002909_abnormal_adrenal_gland0.76957323
70MP0003186_abnormal_redox_activity0.76760115
71MP0002108_abnormal_muscle_morphology0.74804105
72MP0009053_abnormal_anal_canal0.74676891
73MP0000467_abnormal_esophagus_morphology0.74477474
74MP0003868_abnormal_feces_composition0.74311200
75MP0010678_abnormal_skin_adnexa0.73997591
76MP0010771_integument_phenotype0.72540969
77MP0001915_intracranial_hemorrhage0.69247253
78MP0005395_other_phenotype0.68073170
79MP0004484_altered_response_of0.67129176
80MP0005390_skeleton_phenotype0.67119461
81MP0000759_abnormal_skeletal_muscle0.65069945
82MP0000163_abnormal_cartilage_morphology0.64966151
83MP0005620_abnormal_muscle_contractility0.64780504
84MP0004043_abnormal_pH_regulation0.64077852
85MP0004233_abnormal_muscle_weight0.63935409
86MP0003806_abnormal_nucleotide_metabolis0.63579704
87MP0000613_abnormal_salivary_gland0.63197454
88MP0001614_abnormal_blood_vessel0.62612336
89MP0004883_abnormal_blood_vessel0.62441514
90MP0002128_abnormal_blood_circulation0.62265449
91MP0006138_congestive_heart_failure0.61719257
92MP0005501_abnormal_skin_physiology0.60741590
93MP0002282_abnormal_trachea_morphology0.60688750
94MP0000750_abnormal_muscle_regeneration0.60290573
95MP0003448_altered_tumor_morphology0.59599792
96MP0003795_abnormal_bone_structure0.59477071
97MP0000538_abnormal_urinary_bladder0.59181909
98MP0004215_abnormal_myocardial_fiber0.59060893
99MP0002998_abnormal_bone_remodeling0.59058426
100MP0002177_abnormal_outer_ear0.56912766

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.64504819
2Protrusio acetabuli (HP:0003179)5.10073091
3Cardiovascular calcification (HP:0011915)3.93974274
4Vascular tortuosity (HP:0004948)3.87706800
5Atrophic scars (HP:0001075)3.85859769
6Follicular hyperkeratosis (HP:0007502)3.81818704
7Arterial tortuosity (HP:0005116)3.60037501
8Vascular calcification (HP:0004934)3.49709973
9Aortic dissection (HP:0002647)3.42343964
10Mitral stenosis (HP:0001718)3.37971115
11Osteolytic defects of the phalanges of the hand (HP:0009771)3.37339184
12Osteolytic defects of the hand bones (HP:0009699)3.37339184
13Vertebral compression fractures (HP:0002953)3.33372759
14Aortic aneurysm (HP:0004942)3.26986883
15Cervical subluxation (HP:0003308)3.19527345
16Spinal rigidity (HP:0003306)3.11572829
17Short nail (HP:0001799)3.09404939
18Glucose intolerance (HP:0000833)2.84011453
19Abnormality of liposaccharide metabolism (HP:0010968)2.83672080
20Abnormality of glycosphingolipid metabolism (HP:0004343)2.83672080
21Abnormality of glycolipid metabolism (HP:0010969)2.83672080
22Abnormality of dentin (HP:0010299)2.74533826
23Wormian bones (HP:0002645)2.72328372
24Ankle contracture (HP:0006466)2.69076053
25Reduced subcutaneous adipose tissue (HP:0003758)2.67739976
26Type 1 muscle fiber predominance (HP:0003803)2.64213591
27Distal lower limb muscle weakness (HP:0009053)2.59788709
28Fragile skin (HP:0001030)2.55178047
29Spondylolisthesis (HP:0003302)2.54199031
30Mucopolysacchariduria (HP:0008155)2.52835635
31Urinary glycosaminoglycan excretion (HP:0003541)2.52835635
32Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.52601782
33Abnormality of mucopolysaccharide metabolism (HP:0011020)2.45768219
34Abnormality of polysaccharide metabolism (HP:0011012)2.45768219
35Abnormality of glycosaminoglycan metabolism (HP:0004371)2.45768219
36Nuclear cataract (HP:0100018)2.41654009
37Tetraparesis (HP:0002273)2.38924115
38Distal upper limb amyotrophy (HP:0007149)2.38360257
39Upper limb amyotrophy (HP:0009129)2.38360257
40Rhinitis (HP:0012384)2.35584159
41Hand muscle atrophy (HP:0009130)2.34950071
42Soft skin (HP:0000977)2.34343970
43Onycholysis (HP:0001806)2.32959122
44Abnormality of the nasal mucosa (HP:0000433)2.31966042
45Mildly elevated creatine phosphokinase (HP:0008180)2.30411120
46Right ventricular cardiomyopathy (HP:0011663)2.29603078
47Joint stiffness (HP:0001387)2.22126943
48Dysostosis multiplex (HP:0000943)2.19648240
49Cerebral aneurysm (HP:0004944)2.18985303
50Blue sclerae (HP:0000592)2.16750055
51Increased connective tissue (HP:0009025)2.12500852
52Natal tooth (HP:0000695)2.11200935
53Dilatation of the ascending aorta (HP:0005111)2.08167973
54Elbow flexion contracture (HP:0002987)2.07353682
55Asymmetric septal hypertrophy (HP:0001670)2.06908152
56Bladder diverticulum (HP:0000015)2.06551101
57Abnormality of the distal phalanges of the toes (HP:0010182)2.05794312
58Alopecia of scalp (HP:0002293)2.03870079
59Increased variability in muscle fiber diameter (HP:0003557)2.03091386
60Abnormal respiratory epithelium morphology (HP:0012253)2.01646568
61Abnormal respiratory motile cilium morphology (HP:0005938)2.01646568
62Ovoid vertebral bodies (HP:0003300)2.01641347
63Abnormal respiratory motile cilium physiology (HP:0012261)2.01471051
64Delayed gross motor development (HP:0002194)1.99948281
65Slender build (HP:0001533)1.98995561
66Abnormal ciliary motility (HP:0012262)1.95909728
67Generalized amyotrophy (HP:0003700)1.94260551
68Abnormal glucose tolerance (HP:0001952)1.90830474
69Spinal cord compression (HP:0002176)1.88623216
70Limb-girdle muscle atrophy (HP:0003797)1.87668567
71Entropion (HP:0000621)1.86871753
72Abnormality of the acetabulum (HP:0003170)1.84652803
73Aortic valve stenosis (HP:0001650)1.82983233
74Bradycardia (HP:0001662)1.82486424
75Male infertility (HP:0003251)1.80974050
76Aneurysm (HP:0002617)1.77640633
77Abnormality of skeletal muscle fiber size (HP:0012084)1.77158738
78Hypokinesia (HP:0002375)1.76766319
79Popliteal pterygium (HP:0009756)1.76284689
80Striae distensae (HP:0001065)1.76142000
81Vacuolated lymphocytes (HP:0001922)1.75989780
82Wrist flexion contracture (HP:0001239)1.75730294
83Aortic regurgitation (HP:0001659)1.75433881
84Hyperphosphatemia (HP:0002905)1.75406982
85Coxa vara (HP:0002812)1.73458648
86Absent/shortened dynein arms (HP:0200106)1.72073941
87Dynein arm defect of respiratory motile cilia (HP:0012255)1.72073941
88Hyporeflexia of lower limbs (HP:0002600)1.71479741
89Acanthosis nigricans (HP:0000956)1.70285040
90Abnormality of carpal bone ossification (HP:0006257)1.69161340
91Interstitial pulmonary disease (HP:0006530)1.68571373
92Shallow orbits (HP:0000586)1.68427455
93Axonal loss (HP:0003447)1.68064280
94Round ear (HP:0100830)1.67302573
95Neurofibrillary tangles (HP:0002185)1.66242783
96Mitral regurgitation (HP:0001653)1.64625241
97Congenital glaucoma (HP:0001087)1.63632334
98Genu recurvatum (HP:0002816)1.63451633
99Milia (HP:0001056)1.62384556
100Plantar hyperkeratosis (HP:0007556)1.59551231

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK23.98829246
2MYLK3.32710336
3TESK13.31184842
4EPHA23.29472985
5LIMK13.20656708
6MST1R3.07303773
7MAP3K122.84219765
8TGFBR22.72637519
9TIE12.50727486
10PTK22.46856746
11MAP3K32.22051484
12PAK42.21521906
13MET2.17699110
14MST41.97004774
15TRPM71.92783342
16PDGFRA1.84847365
17FER1.82368312
18DDR21.72271453
19TTN1.70728940
20MAPKAPK31.61095172
21EPHB21.59600363
22EPHB11.55327075
23NME21.53724275
24ARAF1.52928809
25IRAK31.52584060
26PHKG21.52091363
27PHKG11.52091363
28LATS21.46984968
29MOS1.46852287
30NEK91.44779883
31RIPK11.43206343
32ABL21.33421408
33PIM21.32001595
34PTK2B1.27475227
35NTRK11.25998081
36STK38L1.25022261
37EIF2AK31.24684100
38STK381.22059695
39MAP3K21.20378819
40PRKG21.19523488
41ERN11.18606122
42STK241.17871185
43ROCK11.15644368
44ERBB41.12674740
45ILK1.09098338
46EIF2AK11.05923719
47ROCK21.05578518
48ERBB30.98684184
49PAK20.92719014
50PDK20.90231662
51SCYL20.82923961
52STK100.79268719
53STK30.77968418
54LATS10.76871225
55PRKD20.75772674
56GSK3A0.72702586
57PRKCE0.72376537
58MAPK150.72214296
59DMPK0.66314258
60PAK60.62380802
61CAMK2D0.62059829
62DAPK30.62051482
63PDGFRB0.61393065
64PAK30.61206238
65CAMK2G0.58644294
66FRK0.58359230
67GRK70.55595302
68TGFBR10.54022099
69ADRBK10.51270968
70CDC42BPA0.50889679
71EPHA30.50336011
72MAP2K10.46829658
73TBK10.45906161
74TAOK20.45709669
75PIK3CG0.44279595
76MAPKAPK50.44112327
77PLK20.43367750
78PRKCI0.43083808
79FLT30.42694265
80JAK10.42637503
81PAK10.38668539
82PRKD10.38391123
83MAP3K60.37172332
84DAPK10.36622006
85CLK10.35095161
86AKT20.31314133
87MUSK0.31014647
88PRKD30.29152250
89GRK10.29061771
90CDK80.28790123
91FGFR30.28508543
92GRK50.27083244
93NEK10.25561499
94MAP3K10.25465892
95SRC0.24874408
96ABL10.24788384
97BMX0.24629880
98BCR0.24045984
99BMPR20.22619564
100PRKAA20.22333601

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.33273498
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.22710823
3Sulfur metabolism_Homo sapiens_hsa009202.61831192
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.34798099
5Vibrio cholerae infection_Homo sapiens_hsa051102.28150304
6Focal adhesion_Homo sapiens_hsa045102.27951308
7Other glycan degradation_Homo sapiens_hsa005112.27348705
8Lysosome_Homo sapiens_hsa041422.10566653
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.06005610
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.00904176
11Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.88898825
12Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.86698409
13Sphingolipid metabolism_Homo sapiens_hsa006001.82374136
14Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.77159904
15Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.76478510
16Dilated cardiomyopathy_Homo sapiens_hsa054141.72399842
17Glutathione metabolism_Homo sapiens_hsa004801.63995368
18Proteoglycans in cancer_Homo sapiens_hsa052051.63693422
19* Complement and coagulation cascades_Homo sapiens_hsa046101.53033739
20N-Glycan biosynthesis_Homo sapiens_hsa005101.50603853
21Phenylalanine metabolism_Homo sapiens_hsa003601.42651860
22Mineral absorption_Homo sapiens_hsa049781.40708454
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.38660633
24Amoebiasis_Homo sapiens_hsa051461.33983572
25Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.33709777
26Protein export_Homo sapiens_hsa030601.32856953
27Folate biosynthesis_Homo sapiens_hsa007901.32064960
28Protein digestion and absorption_Homo sapiens_hsa049741.29118661
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.25709347
30Tyrosine metabolism_Homo sapiens_hsa003501.25281360
31Adherens junction_Homo sapiens_hsa045201.25133155
32Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.22598168
33SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21691522
34Circadian rhythm_Homo sapiens_hsa047101.19206228
35Regulation of actin cytoskeleton_Homo sapiens_hsa048101.11885029
36Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.10907330
37Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.10277259
38Fatty acid elongation_Homo sapiens_hsa000621.09953581
39AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.05892634
40Tight junction_Homo sapiens_hsa045301.02131638
41Collecting duct acid secretion_Homo sapiens_hsa049661.02067554
42Chemical carcinogenesis_Homo sapiens_hsa052040.97924303
43Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.95645810
44Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.94586329
45Vitamin B6 metabolism_Homo sapiens_hsa007500.93404852
46Galactose metabolism_Homo sapiens_hsa000520.93009558
47Small cell lung cancer_Homo sapiens_hsa052220.91957385
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90958905
49beta-Alanine metabolism_Homo sapiens_hsa004100.89944637
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.88295981
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.87790221
52Pertussis_Homo sapiens_hsa051330.87653295
53Phagosome_Homo sapiens_hsa041450.87605092
54Histidine metabolism_Homo sapiens_hsa003400.85856593
55Shigellosis_Homo sapiens_hsa051310.85685553
56TGF-beta signaling pathway_Homo sapiens_hsa043500.83719531
57Primary bile acid biosynthesis_Homo sapiens_hsa001200.83488315
58Bladder cancer_Homo sapiens_hsa052190.80205774
59PI3K-Akt signaling pathway_Homo sapiens_hsa041510.79848533
60Pancreatic secretion_Homo sapiens_hsa049720.71217270
61Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70998086
62Pentose phosphate pathway_Homo sapiens_hsa000300.68720677
63Salmonella infection_Homo sapiens_hsa051320.67897759
64Endocytosis_Homo sapiens_hsa041440.67408120
65Malaria_Homo sapiens_hsa051440.67213972
66Prion diseases_Homo sapiens_hsa050200.66590484
67Proteasome_Homo sapiens_hsa030500.65102339
68Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63868925
69Synaptic vesicle cycle_Homo sapiens_hsa047210.62196553
70Hippo signaling pathway_Homo sapiens_hsa043900.60596899
71Salivary secretion_Homo sapiens_hsa049700.58550758
72PPAR signaling pathway_Homo sapiens_hsa033200.53671788
73Starch and sucrose metabolism_Homo sapiens_hsa005000.52051786
74Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.51725600
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.49112278
76Maturity onset diabetes of the young_Homo sapiens_hsa049500.48656548
77Rheumatoid arthritis_Homo sapiens_hsa053230.48327713
78Arginine biosynthesis_Homo sapiens_hsa002200.47835654
79Renin secretion_Homo sapiens_hsa049240.47475348
80Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47337304
81Fructose and mannose metabolism_Homo sapiens_hsa000510.47166486
82Melanoma_Homo sapiens_hsa052180.41880235
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.41624276
84Fatty acid degradation_Homo sapiens_hsa000710.41222366
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38527739
86Retinol metabolism_Homo sapiens_hsa008300.38222849
87Insulin secretion_Homo sapiens_hsa049110.35750211
88cGMP-PKG signaling pathway_Homo sapiens_hsa040220.35501929
89Pathways in cancer_Homo sapiens_hsa052000.31607076
90Thyroid hormone synthesis_Homo sapiens_hsa049180.31325078
91Sphingolipid signaling pathway_Homo sapiens_hsa040710.30457853
92Peroxisome_Homo sapiens_hsa041460.30362002
93Pentose and glucuronate interconversions_Homo sapiens_hsa000400.30110651
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.29877480
95Ovarian steroidogenesis_Homo sapiens_hsa049130.29725509
96Arginine and proline metabolism_Homo sapiens_hsa003300.29365890
97Bile secretion_Homo sapiens_hsa049760.29111735
98Glucagon signaling pathway_Homo sapiens_hsa049220.27639875
99Hepatitis C_Homo sapiens_hsa051600.26751678
100Dorso-ventral axis formation_Homo sapiens_hsa043200.26539040

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