CD248

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
1protein heterotrimerization (GO:0070208)8.49275456
2collagen fibril organization (GO:0030199)7.27219992
3bone trabecula formation (GO:0060346)6.35877542
4chondrocyte proliferation (GO:0035988)6.25715591
5sequestering of extracellular ligand from receptor (GO:0035581)5.75665230
6skin morphogenesis (GO:0043589)5.62408309
7endodermal cell differentiation (GO:0035987)5.35431125
8type B pancreatic cell proliferation (GO:0044342)5.11986066
9collagen metabolic process (GO:0032963)5.01077953
10collagen catabolic process (GO:0030574)4.90054267
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.83826301
12extracellular fibril organization (GO:0043206)4.81414235
13axon extension involved in axon guidance (GO:0048846)4.73951528
14neuron projection extension involved in neuron projection guidance (GO:1902284)4.73951528
15multicellular organismal macromolecule metabolic process (GO:0044259)4.70969179
16multicellular organismal catabolic process (GO:0044243)4.51808068
17fibril organization (GO:0097435)4.49367835
18multicellular organismal metabolic process (GO:0044236)4.44903900
19negative regulation of fatty acid transport (GO:2000192)4.35299477
20metanephric mesenchyme development (GO:0072075)4.34021166
21basement membrane organization (GO:0071711)4.29362667
22craniofacial suture morphogenesis (GO:0097094)4.19382986
23extracellular matrix disassembly (GO:0022617)4.18103504
24mesenchymal-epithelial cell signaling (GO:0060638)4.15995684
25negative regulation of chondrocyte differentiation (GO:0032331)4.15631554
26kidney mesenchyme development (GO:0072074)4.13017272
27wound healing, spreading of epidermal cells (GO:0035313)4.12547596
28dermatan sulfate biosynthetic process (GO:0030208)4.12137763
29planar cell polarity pathway involved in neural tube closure (GO:0090179)4.10943644
30cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.10640926
31extracellular matrix assembly (GO:0085029)4.07691790
32outer ear morphogenesis (GO:0042473)4.04091061
33adhesion of symbiont to host (GO:0044406)3.99665390
34regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.91736930
35peptidyl-proline hydroxylation (GO:0019511)3.85159153
36cell adhesion mediated by integrin (GO:0033627)3.80417642
37cell migration involved in heart development (GO:0060973)3.80278869
38dermatan sulfate metabolic process (GO:0030205)3.74606440
39glomerular basement membrane development (GO:0032836)3.73651081
40positive regulation of epithelial to mesenchymal transition (GO:0010718)3.68170153
41barbed-end actin filament capping (GO:0051016)3.65113282
42G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.63223425
43peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.62150044
44cell proliferation involved in metanephros development (GO:0072203)3.62007271
45retina vasculature morphogenesis in camera-type eye (GO:0061299)3.61478165
46negative regulation of cartilage development (GO:0061037)3.59134389
47apoptotic cell clearance (GO:0043277)3.54598029
48vascular endothelial growth factor signaling pathway (GO:0038084)3.50350587
49cellular response to vitamin (GO:0071295)3.48803186
50embryonic cranial skeleton morphogenesis (GO:0048701)3.45074390
51plasma membrane repair (GO:0001778)3.42344982
52wound healing, spreading of cells (GO:0044319)3.37479475
53regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.33287368
54middle ear morphogenesis (GO:0042474)3.32486966
55regulation of tight junction assembly (GO:2000810)3.31162050
56protein hydroxylation (GO:0018126)3.30164220
57extracellular matrix organization (GO:0030198)3.21915968
58extracellular structure organization (GO:0043062)3.20566503
59epithelial cell-cell adhesion (GO:0090136)3.19822805
60negative regulation of catenin import into nucleus (GO:0035414)3.18800558
61regulation of extracellular matrix disassembly (GO:0010715)3.17695760
62endothelial cell morphogenesis (GO:0001886)3.17162577
63trabecula formation (GO:0060343)3.15936977
64negative regulation of embryonic development (GO:0045992)3.15109133
65extracellular regulation of signal transduction (GO:1900115)3.14867335
66extracellular negative regulation of signal transduction (GO:1900116)3.14867335
67positive regulation of fibroblast migration (GO:0010763)3.10550432
68cell-substrate junction assembly (GO:0007044)3.10465397
69hippo signaling (GO:0035329)3.10258174
70chondrocyte development (GO:0002063)3.09990971
71cranial suture morphogenesis (GO:0060363)3.07034773
72cellular response to amino acid stimulus (GO:0071230)3.04930461
73heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.04113271
74venous blood vessel morphogenesis (GO:0048845)3.01548682
75smooth muscle tissue development (GO:0048745)3.00933770
76glomerular filtration (GO:0003094)3.00116013
77stress fiber assembly (GO:0043149)2.96950968
78negative regulation of BMP signaling pathway (GO:0030514)2.96614664
79negative regulation of smooth muscle cell migration (GO:0014912)2.95857168
80regulation of gastrulation (GO:0010470)2.95604724
81protein trimerization (GO:0070206)2.94664187
82glial cell migration (GO:0008347)2.94411627
83keratan sulfate catabolic process (GO:0042340)2.92095460
84regulation of cartilage development (GO:0061035)2.91755431
85blood vessel maturation (GO:0001955)2.90609189
86positive regulation of blood vessel endothelial cell migration (GO:0043536)2.88277553
87regulation of smooth muscle cell migration (GO:0014910)2.88222893
88endocardial cushion development (GO:0003197)2.87838237
89tooth mineralization (GO:0034505)2.87222613
90substrate adhesion-dependent cell spreading (GO:0034446)2.86985709
91cell proliferation involved in kidney development (GO:0072111)2.86690952
92Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.85833042
93adhesion of symbiont to host cell (GO:0044650)2.85564308
94virion attachment to host cell (GO:0019062)2.85564308
95regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.84415386
96insulin-like growth factor receptor signaling pathway (GO:0048009)2.84265103
97cellular response to interferon-alpha (GO:0035457)2.82819660
98polarized epithelial cell differentiation (GO:0030859)2.82560191
99protein localization to cell surface (GO:0034394)2.81694392
100adherens junction assembly (GO:0034333)2.81623983
101muscle cell migration (GO:0014812)2.81602183
102negative regulation of focal adhesion assembly (GO:0051895)2.79667133
103negative regulation of cell junction assembly (GO:1901889)2.79667133
104negative regulation of adherens junction organization (GO:1903392)2.79667133
105regulation of establishment of planar polarity (GO:0090175)2.79581590
106chondroitin sulfate biosynthetic process (GO:0030206)2.79126793
107cellular response to vitamin D (GO:0071305)2.78653828
108renal filtration (GO:0097205)2.78541639
109maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.78256907
110regulation of plasminogen activation (GO:0010755)2.77836157
111regulation of integrin-mediated signaling pathway (GO:2001044)2.77401363
112hyaluronan catabolic process (GO:0030214)2.77401157
113negative regulation of osteoblast proliferation (GO:0033689)2.77185544
114positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.76108453
115cell migration involved in sprouting angiogenesis (GO:0002042)2.75771902
116chondroitin sulfate catabolic process (GO:0030207)2.75624494
117regulation of chondrocyte differentiation (GO:0032330)2.72922140
118regulation of epithelial to mesenchymal transition (GO:0010717)2.72873511
119cell-substrate adherens junction assembly (GO:0007045)2.71836826
120focal adhesion assembly (GO:0048041)2.71836826
121cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.71501401
122pericardium development (GO:0060039)2.71303169
123positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.71228191
124substrate-dependent cell migration (GO:0006929)2.71166446
125negative regulation of leukocyte chemotaxis (GO:0002689)2.71005232
126protein retention in ER lumen (GO:0006621)2.70835165
127negative regulation of nitric-oxide synthase activity (GO:0051001)2.70774926
128vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.68993409
129negative regulation of axon extension involved in axon guidance (GO:0048843)2.66550493
130regulation of collagen metabolic process (GO:0010712)2.65498196
131cortical actin cytoskeleton organization (GO:0030866)2.63493435
132hypotonic response (GO:0006971)2.60083223
133COPI coating of Golgi vesicle (GO:0048205)2.59723943

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.84679470
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.60605799
3RARG_19884340_ChIP-ChIP_MEFs_Mouse5.14107056
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.33862676
5CLOCK_20551151_ChIP-Seq_293T_Human3.30264956
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.22426586
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.18951168
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.69385056
9CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.66739707
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.50005777
11WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.44677310
12* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.43438860
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.43152865
14WT1_19549856_ChIP-ChIP_CCG9911_Human2.35016570
15* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.32007625
16CJUN_26792858_Chip-Seq_BT549_Human2.29361920
17* ELK3_25401928_ChIP-Seq_HUVEC_Human2.26272776
18PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.23589160
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.10557387
20* BRD4_25478319_ChIP-Seq_HGPS_Human2.09026889
21HIF1A_21447827_ChIP-Seq_MCF-7_Human1.95966162
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.90668148
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.88283757
24TP53_20018659_ChIP-ChIP_R1E_Mouse1.87853661
25SMC1_22415368_ChIP-Seq_MEFs_Mouse1.79889020
26TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68754925
27P300_27058665_Chip-Seq_ZR-75-30cells_Human1.65710659
28ZFP281_18757296_ChIP-ChIP_E14_Mouse1.63893154
29NRF2_20460467_ChIP-Seq_MEFs_Mouse1.63016267
30NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.63016267
31EZH2_18974828_ChIP-Seq_MESCs_Mouse1.59456109
32RNF2_18974828_ChIP-Seq_MESCs_Mouse1.59456109
33KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54882167
34* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.49402862
35TP53_22127205_ChIP-Seq_IMR90_Human1.48067467
36ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.47393138
37SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.47258500
38ESR2_21235772_ChIP-Seq_MCF-7_Human1.44463357
39UBF1/2_26484160_Chip-Seq_HMECs_Human1.42834490
40GATA2_21666600_ChIP-Seq_HMVEC_Human1.42596734
41NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.40770507
42LXR_22292898_ChIP-Seq_THP-1_Human1.40593604
43* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39661093
44STAT6_21828071_ChIP-Seq_BEAS2B_Human1.39436341
45SMC3_22415368_ChIP-Seq_MEFs_Mouse1.39136723
46* TP53_23651856_ChIP-Seq_MEFs_Mouse1.38881935
47SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.38532596
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37910107
49JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37773857
50ATF3_27146783_Chip-Seq_COLON_Human1.37751243
51RACK7_27058665_Chip-Seq_MCF-7_Human1.37257087
52PPAR_26484153_Chip-Seq_NCI-H1993_Human1.35934972
53ESR1_21235772_ChIP-Seq_MCF-7_Human1.35731718
54ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.35416893
55SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.34017025
56SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.32774508
57SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.32189746
58SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.32189746
59SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.31718166
60TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.31703931
61TBX20_22328084_ChIP-Seq_HEART_Mouse1.31240968
62TBX20_22080862_ChIP-Seq_HEART_Mouse1.31240968
63ESR1_15608294_ChIP-ChIP_MCF-7_Human1.31191957
64SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.29795905
65JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28617826
66SOX9_24532713_ChIP-Seq_HFSC_Mouse1.27080527
67MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.26594052
68HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.25303227
69TP53_18474530_ChIP-ChIP_U2OS_Human1.24595366
70SA1_22415368_ChIP-Seq_MEFs_Mouse1.24528378
71* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.23321450
72KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.22593225
73ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.21087219
74RNF2_27304074_Chip-Seq_ESCs_Mouse1.19191166
75NFIB_24661679_ChIP-Seq_LUNG_Mouse1.19103234
76JARID2_20075857_ChIP-Seq_MESCs_Mouse1.18791076
77THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.18565280
78CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16511275
79* ISL1_27105846_Chip-Seq_CPCs_Mouse1.16317834
80CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.15511615
81ZFP281_27345836_Chip-Seq_ESCs_Mouse1.15439035
82FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.15411831
83* KDM2B_26808549_Chip-Seq_DND41_Human1.14866795
84RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.14173241
85TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13905037
86* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.13805088
87* KDM2B_26808549_Chip-Seq_K562_Human1.11747602
88TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09360437
89SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.08463300
90RBPJ_22232070_ChIP-Seq_NCS_Mouse1.08248135
91TP53_16413492_ChIP-PET_HCT116_Human1.08189863
92SMAD_19615063_ChIP-ChIP_OVARY_Human1.08111402
93RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.08094132
94FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.06634817
95P63_26484246_Chip-Seq_KERATINOCYTES_Human1.05486010
96* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.03753116
97* TET1_21490601_ChIP-Seq_MESCs_Mouse1.02755210
98SOX2_20726797_ChIP-Seq_SW620_Human1.01488060
99NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.01091916
100* RAD21_21589869_ChIP-Seq_MESCs_Mouse1.01057936
101EZH2_27304074_Chip-Seq_ESCs_Mouse0.99021413
102JARID2_20064375_ChIP-Seq_MESCs_Mouse0.98906013
103PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.98437745
104MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98168256
105* KDM2B_26808549_Chip-Seq_JURKAT_Human0.97906186
106PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.95053849
107* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.94755547
108TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.94291638
109NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.92598407
110SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92239552
111EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.92211109
112KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.89671380
113FOXO3_23340844_ChIP-Seq_DLD1_Human0.89572679
114HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.89431991
115POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.89395659
116TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88924519
117ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88710774
118RING1B_27294783_Chip-Seq_ESCs_Mouse0.88282603
119* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87934514

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.66061190
2MP0005275_abnormal_skin_tensile5.62383830
3MP0005503_abnormal_tendon_morphology5.57109912
4MP0003705_abnormal_hypodermis_morpholog4.57196593
5MP0003279_aneurysm4.11319747
6MP0001958_emphysema3.40417881
7MP0004272_abnormal_basement_membrane2.97811979
8MP0005623_abnormal_meninges_morphology2.75121609
9MP0009384_cardiac_valve_regurgitation2.70454558
10MP0006054_spinal_hemorrhage2.66784925
11MP0005508_abnormal_skeleton_morphology2.27021225
12MP0005257_abnormal_intraocular_pressure2.26554872
13MP0002060_abnormal_skin_morphology2.07129518
14MP0010030_abnormal_orbit_morphology2.04431196
15MP0003566_abnormal_cell_adhesion1.91276641
16MP0003385_abnormal_body_wall1.89431595
17MP0002295_abnormal_pulmonary_circulatio1.83073480
18MP0009250_abnormal_appendicular_skeleto1.82700592
19MP0002108_abnormal_muscle_morphology1.82526240
20MP0005023_abnormal_wound_healing1.72888028
21MP0001243_abnormal_dermal_layer1.62783959
22MP0003950_abnormal_plasma_membrane1.58175849
23MP0000013_abnormal_adipose_tissue1.55756687
24MP0003091_abnormal_cell_migration1.54482645
25MP0001542_abnormal_bone_strength1.51151669
26MP0000733_abnormal_muscle_development1.45823414
27MP0009780_abnormal_chondrocyte_physiolo1.45005797
28MP0010368_abnormal_lymphatic_system1.42756051
29MP0010352_gastrointestinal_tract_polyps1.40431988
30MP0002896_abnormal_bone_mineralization1.38078900
31MP0004134_abnormal_chest_morphology1.37091258
32MP0000751_myopathy1.35082360
33MP0004858_abnormal_nervous_system1.34118179
34MP0000767_abnormal_smooth_muscle1.33821708
35MP0005390_skeleton_phenotype1.25675397
36MP0002282_abnormal_trachea_morphology1.25014535
37MP0002932_abnormal_joint_morphology1.24164117
38MP0009053_abnormal_anal_canal1.23043551
39MP0003942_abnormal_urinary_system1.22228754
40MP0003283_abnormal_digestive_organ1.21530596
41MP0001299_abnormal_eye_distance/1.19771838
42MP0000163_abnormal_cartilage_morphology1.16362608
43MP0000534_abnormal_ureter_morphology1.15085117
44MP0000428_abnormal_craniofacial_morphol1.14545822
45MP0002115_abnormal_skeleton_extremities1.10224088
46MP0003115_abnormal_respiratory_system1.09935650
47MP0002933_joint_inflammation1.07321637
48MP0000049_abnormal_middle_ear1.06696319
49MP0000750_abnormal_muscle_regeneration1.06085724
50MP0000003_abnormal_adipose_tissue1.05515215
51MP0002249_abnormal_larynx_morphology1.04833873
52MP0003755_abnormal_palate_morphology1.03762922
53MP0002168_other_aberrant_phenotype1.02235447
54MP0001348_abnormal_lacrimal_gland1.00819506
55MP0003045_fibrosis1.00052557
56MP0005076_abnormal_cell_differentiation0.96587866
57MP0002254_reproductive_system_inflammat0.96259135
58MP0001879_abnormal_lymphatic_vessel0.94338455
59MP0002113_abnormal_skeleton_development0.93286273
60MP0010386_abnormal_urinary_bladder0.93251034
61MP0003941_abnormal_skin_development0.87899603
62MP0002877_abnormal_melanocyte_morpholog0.86788943
63MP0001849_ear_inflammation0.86502217
64MP0000759_abnormal_skeletal_muscle0.86357053
65MP0002128_abnormal_blood_circulation0.85356744
66MP0002998_abnormal_bone_remodeling0.81776611
67MP0002116_abnormal_craniofacial_bone0.80609760
68MP0002089_abnormal_postnatal_growth/wei0.80598162
69MP0004233_abnormal_muscle_weight0.79679814
70MP0001614_abnormal_blood_vessel0.79440945
71MP0002837_dystrophic_cardiac_calcinosis0.78960662
72MP0003935_abnormal_craniofacial_develop0.78421965
73MP0005595_abnormal_vascular_smooth0.77978427
74MP0002109_abnormal_limb_morphology0.76378663
75MP0000432_abnormal_head_morphology0.74007059
76MP0000749_muscle_degeneration0.73488642
77MP0000516_abnormal_urinary_system0.73447126
78MP0005367_renal/urinary_system_phenotyp0.73447126
79MP0001533_abnormal_skeleton_physiology0.72903235
80MP0003122_maternal_imprinting0.72007626
81MP0005375_adipose_tissue_phenotype0.70397414
82MP0000762_abnormal_tongue_morphology0.70377084
83MP0002111_abnormal_tail_morphology0.69849478
84MP0004883_abnormal_blood_vessel0.69738802
85MP0004087_abnormal_muscle_fiber0.69032132
86MP0001175_abnormal_lung_morphology0.68696431
87MP0003795_abnormal_bone_structure0.68167313
88MP0002925_abnormal_cardiovascular_devel0.67329013
89MP0002233_abnormal_nose_morphology0.66241552
90* MP0003448_altered_tumor_morphology0.66181372
91MP0002114_abnormal_axial_skeleton0.65263124
92MP0005058_abnormal_lysosome_morphology0.64416260
93MP0002133_abnormal_respiratory_system0.63288064
94MP0005388_respiratory_system_phenotype0.63288064
95MP0005369_muscle_phenotype0.63199416
96MP0005171_absent_coat_pigmentation0.62572566
97MP0001915_intracranial_hemorrhage0.61095020
98MP0003937_abnormal_limbs/digits/tail_de0.60595537
99MP0003828_pulmonary_edema0.59906201
100MP0000343_altered_response_to0.59601294
101MP0006138_congestive_heart_failure0.59532913
102MP0002971_abnormal_brown_adipose0.59218581
103MP0005164_abnormal_response_to0.57428335
104MP0009840_abnormal_foam_cell0.57346741
105MP0000537_abnormal_urethra_morphology0.57105615
106MP0000858_altered_metastatic_potential0.56596692
107MP0003300_gastrointestinal_ulcer0.56259660
108MP0004084_abnormal_cardiac_muscle0.56234212
109MP0003959_abnormal_lean_body0.56210647
110MP0000538_abnormal_urinary_bladder0.55879736
111MP0002177_abnormal_outer_ear0.55712922
112MP0010771_integument_phenotype0.55544683
113MP0005197_abnormal_uvea_morphology0.55393956
114MP0000462_abnormal_digestive_system0.54044620
115MP0000266_abnormal_heart_morphology0.53299874
116MP0005670_abnormal_white_adipose0.52912293
117MP0000249_abnormal_blood_vessel0.51856362
118MP0005165_increased_susceptibility_to0.51131504
119MP0003191_abnormal_cellular_cholesterol0.50987174
120MP0004130_abnormal_muscle_cell0.49487951
121MP0005620_abnormal_muscle_contractility0.49393680

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.39785358
2Premature rupture of membranes (HP:0001788)8.47147000
3Ankle contracture (HP:0006466)5.62351506
4Aortic dissection (HP:0002647)5.25176551
5Shallow orbits (HP:0000586)5.24805113
6Peritonitis (HP:0002586)5.09518635
7Soft skin (HP:0000977)5.06030435
8Atrophic scars (HP:0001075)4.69983973
9Broad metatarsal (HP:0001783)4.62336055
10Bladder diverticulum (HP:0000015)4.55562388
11Follicular hyperkeratosis (HP:0007502)4.34272542
12Type 1 muscle fiber predominance (HP:0003803)4.33997532
13Abnormality of dentin (HP:0010299)4.32573511
14Fragile skin (HP:0001030)4.29842336
15Aortic aneurysm (HP:0004942)4.26254576
16Dilatation of the ascending aorta (HP:0005111)4.12491683
17Cerebral aneurysm (HP:0004944)4.06825132
18Biconcave vertebral bodies (HP:0004586)3.78323486
19Vertebral compression fractures (HP:0002953)3.78182852
20Genu recurvatum (HP:0002816)3.77873573
21Spinal rigidity (HP:0003306)3.74560511
22Increased connective tissue (HP:0009025)3.72983773
23Neonatal short-limb short stature (HP:0008921)3.68125650
24Wrist flexion contracture (HP:0001239)3.56817484
25Slender build (HP:0001533)3.53063641
26Wormian bones (HP:0002645)3.52298815
27Mitral valve prolapse (HP:0001634)3.51835666
28Blue sclerae (HP:0000592)3.50845235
29Cervical subluxation (HP:0003308)3.40081787
30Bowel diverticulosis (HP:0005222)3.25132589
31Hyperextensible skin (HP:0000974)3.04773109
32Increased variability in muscle fiber diameter (HP:0003557)3.03649471
33Overgrowth (HP:0001548)2.93109219
34Vascular tortuosity (HP:0004948)2.89052766
35Mildly elevated creatine phosphokinase (HP:0008180)2.88151364
36Abnormal delivery (HP:0001787)2.79486808
37Infantile muscular hypotonia (HP:0008947)2.69465383
38Abnormality of skeletal muscle fiber size (HP:0012084)2.65489366
39Abnormality of the acetabulum (HP:0003170)2.63211843
40Elbow flexion contracture (HP:0002987)2.62883717
41Joint laxity (HP:0001388)2.62090007
42Deviation of the hallux (HP:0010051)2.55193664
43Arterial tortuosity (HP:0005116)2.51486415
44Wide anterior fontanel (HP:0000260)2.50798165
45Aortic valve stenosis (HP:0001650)2.50083234
46Aneurysm (HP:0002617)2.48658201
47Breech presentation (HP:0001623)2.47690651
48Ectopia lentis (HP:0001083)2.47384483
49Hallux valgus (HP:0001822)2.46749734
50Nonimmune hydrops fetalis (HP:0001790)2.45865777
51Abnormality of the peritoneum (HP:0002585)2.44737161
52Thin bony cortex (HP:0002753)2.38169929
53Short 4th metacarpal (HP:0010044)2.32299704
54Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.32299704
55Buphthalmos (HP:0000557)2.32236469
56Round ear (HP:0100830)2.31716156
57Mitral regurgitation (HP:0001653)2.26913232
58Camptodactyly of toe (HP:0001836)2.23509643
59Redundant skin (HP:0001582)2.23418476
60Venous abnormality (HP:0002624)2.19138849
61Broad ribs (HP:0000885)2.17437976
62Venous insufficiency (HP:0005293)2.15314130
63Striae distensae (HP:0001065)2.13141270
64Long toe (HP:0010511)2.10869667
65Spondylolisthesis (HP:0003302)2.09767667
66Coronal craniosynostosis (HP:0004440)2.07972097
67Coxa vara (HP:0002812)2.07420205
68Congenital glaucoma (HP:0001087)2.05799521
69Hypoventilation (HP:0002791)2.01944561
70Morphological abnormality of the middle ear (HP:0008609)2.01822382
71Osteoarthritis (HP:0002758)2.01362598
72Ovoid vertebral bodies (HP:0003300)2.00763357
73Generalized amyotrophy (HP:0003700)2.00111498
74Abnormality of the 4th metacarpal (HP:0010012)1.99661640
75Premature skin wrinkling (HP:0100678)1.98204233
76Osteolytic defects of the phalanges of the hand (HP:0009771)1.97729593
77Osteolytic defects of the hand bones (HP:0009699)1.97729593
78Mesomelia (HP:0003027)1.95051974
79Bell-shaped thorax (HP:0001591)1.92617062
80Delayed closure of the anterior fontanelle (HP:0001476)1.90514532
81Mitral stenosis (HP:0001718)1.89955681
82Protruding ear (HP:0000411)1.89856662
83Emphysema (HP:0002097)1.89326212
84Abnormality of skull ossification (HP:0002703)1.88367937
85Aortic regurgitation (HP:0001659)1.87380055
86Tibial bowing (HP:0002982)1.86945347
87Joint stiffness (HP:0001387)1.86924725
88Broad long bones (HP:0005622)1.85384563
89Inguinal hernia (HP:0000023)1.84671242
90Disproportionate tall stature (HP:0001519)1.84603689
91Osteopenia (HP:0000938)1.84184252
92Thin skin (HP:0000963)1.83430869
93Abnormality of the Achilles tendon (HP:0005109)1.82601543
94Flat cornea (HP:0007720)1.82353397
95Natal tooth (HP:0000695)1.81694503
96Spinal cord lesions (HP:0100561)1.81086271
97Syringomyelia (HP:0003396)1.81086271
98Short nail (HP:0001799)1.80102166
99Asymmetry of the thorax (HP:0001555)1.79380846
100Decreased skull ossification (HP:0004331)1.78546682
101Muscle fiber splitting (HP:0003555)1.78497492
102Ulnar bowing (HP:0003031)1.78049137
103Thoracolumbar scoliosis (HP:0002944)1.77792347
104Mild short stature (HP:0003502)1.77417421
105Limb-girdle muscle weakness (HP:0003325)1.76292210
106Knee flexion contracture (HP:0006380)1.75811217
107Obstructive sleep apnea (HP:0002870)1.75095619
108Femoral bowing (HP:0002980)1.74839353
109Hypoplasia of the iris (HP:0007676)1.73494672
110Delayed cranial suture closure (HP:0000270)1.73308842
111Flexion contracture of toe (HP:0005830)1.71620268
112Joint contractures involving the joints of the feet (HP:0100492)1.71620268
113Achilles tendon contracture (HP:0001771)1.70149290
114Renal duplication (HP:0000075)1.69007974
115Distal upper limb amyotrophy (HP:0007149)1.68913756
116Upper limb amyotrophy (HP:0009129)1.68913756
117Absent frontal sinuses (HP:0002688)1.67429778

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB35.06473321
2DDR24.56369300
3LATS23.77343773
4PDGFRA3.75794995
5TTN3.63783289
6ERN13.57748990
7PKN23.31727508
8LATS12.61909138
9EPHB22.60997225
10SIK12.53339162
11PAK22.19029539
12RIPK12.08013090
13MYLK1.88458362
14BMX1.82210860
15DMPK1.78701239
16EPHA31.74952976
17AKT31.74197058
18PTK21.64148928
19PTK2B1.59944654
20STK381.53984585
21GRK51.50476463
22PTK61.44536495
23FER1.43097864
24RPS6KA41.38533363
25PIM21.37914858
26TGFBR21.36459233
27PAK31.36178440
28EEF2K1.34819722
29MAP3K101.33043791
30LRRK21.31723309
31GRK71.29072015
32ILK1.29032430
33PAK41.24742885
34TESK11.21741489
35PDGFRB1.20148778
36MAP3K61.18820176
37FGFR11.14153213
38MET1.13460762
39TRPM71.11589526
40ROCK11.10642977
41DAPK31.09801718
42MAPK71.07042690
43LIMK11.06698785
44STK31.05366543
45MTOR1.04833613
46PIK3CA0.98696239
47MOS0.97154231
48NEK90.87663473
49CAMK1D0.87185259
50EPHB10.86894783
51PIK3CG0.83541732
52GRK10.80816777
53ERBB40.78484903
54MAP2K10.78191248
55PRPF4B0.77484477
56PRKD20.76253096
57PRKD10.75722710
58WNK10.74650590
59NTRK10.73051267
60FLT30.72765129
61KIT0.72368048
62ROCK20.72324116
63TAOK10.71891616
64STK38L0.71296319
65PAK10.67118300
66CDC42BPA0.66550551
67ADRBK20.65583655
68RET0.65264996
69ICK0.65044241
70FGFR20.63690207
71ABL20.62212679
72CAMK1G0.60441153
73PRKD30.59679466
74DYRK1B0.59292389
75TESK20.56809841
76KDR0.56207670
77JAK30.55769823
78MAP3K30.54934033
79INSR0.54606823
80SMG10.54494186
81GRK60.54246818
82MAPK40.53642497
83ARAF0.53437670
84CDK60.53299973
85FRK0.50213367
86CAMK10.50198694
87PRKCH0.48086243
88KSR20.47843486
89TYK20.47442503
90PAK60.47003204
91TIE10.45649213
92CLK10.43414410
93SRC0.43173583
94MAP2K30.43028194
95NME20.42914623
96TAOK20.42638811
97CAMKK10.41524655
98RPS6KA60.41523195
99TGFBR10.41383866
100ZAP700.40218693
101PDPK10.38607920
102ADRBK10.38558630
103FGFR40.37871042
104LMTK20.37816434
105MELK0.36553745
106TBK10.36496321
107CAMK2G0.36150180
108MAPKAPK20.35392350
109MAPK10.34676802
110CDK120.34626591
111MAP3K80.32211198
112MARK10.32110068
113CDK80.31640326
114CDK140.29723987
115PRKG20.29348903
116MAPKAPK50.28964472
117MAPKAPK30.28794231
118ERBB30.27026815
119MAP3K70.26624084
120JAK10.26558907
121MARK20.24988195
122PLK20.24213577
123SCYL20.22540736
124CDK150.21484913
125RPS6KA20.17605310
126GSK3A0.17419094
127CDK11A0.17211224
128RPS6KL10.17039179
129RPS6KC10.17039179

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.93425201
2Focal adhesion_Homo sapiens_hsa045103.44784961
3Protein digestion and absorption_Homo sapiens_hsa049743.26216657
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.96990309
5Proteoglycans in cancer_Homo sapiens_hsa052052.49906342
6AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.47762460
7Amoebiasis_Homo sapiens_hsa051462.43944158
8Bladder cancer_Homo sapiens_hsa052192.39045835
9Basal cell carcinoma_Homo sapiens_hsa052172.14750455
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.10698362
11Dilated cardiomyopathy_Homo sapiens_hsa054142.08694444
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.03536484
13Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.99524403
14Malaria_Homo sapiens_hsa051441.99032964
15Adherens junction_Homo sapiens_hsa045201.98868542
16Small cell lung cancer_Homo sapiens_hsa052221.87376175
17PI3K-Akt signaling pathway_Homo sapiens_hsa041511.85143170
18TGF-beta signaling pathway_Homo sapiens_hsa043501.85126171
19MicroRNAs in cancer_Homo sapiens_hsa052061.80904432
20Hippo signaling pathway_Homo sapiens_hsa043901.80807511
21Hedgehog signaling pathway_Homo sapiens_hsa043401.79693751
22Melanoma_Homo sapiens_hsa052181.71453185
23Chronic myeloid leukemia_Homo sapiens_hsa052201.67984841
24Other glycan degradation_Homo sapiens_hsa005111.63639397
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.57905832
26Regulation of actin cytoskeleton_Homo sapiens_hsa048101.35581196
27Glioma_Homo sapiens_hsa052141.33492560
28p53 signaling pathway_Homo sapiens_hsa041151.32714052
29Pathways in cancer_Homo sapiens_hsa052001.22815980
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.22621086
31Prostate cancer_Homo sapiens_hsa052151.20171227
32Viral myocarditis_Homo sapiens_hsa054161.19528875
33Wnt signaling pathway_Homo sapiens_hsa043101.17668660
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.14188027
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.13575654
36Platelet activation_Homo sapiens_hsa046111.10558216
37Pancreatic cancer_Homo sapiens_hsa052121.10008512
38Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.09916240
39Rap1 signaling pathway_Homo sapiens_hsa040151.08541172
40Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07794730
41Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.05181513
42Complement and coagulation cascades_Homo sapiens_hsa046101.05122931
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03325751
44HTLV-I infection_Homo sapiens_hsa051661.02912675
45Central carbon metabolism in cancer_Homo sapiens_hsa052301.02464118
46Axon guidance_Homo sapiens_hsa043601.01912625
47Shigellosis_Homo sapiens_hsa051311.00089776
48Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.98885714
49Toxoplasmosis_Homo sapiens_hsa051450.90203519
50Tight junction_Homo sapiens_hsa045300.89794306
51Melanogenesis_Homo sapiens_hsa049160.89293213
52TNF signaling pathway_Homo sapiens_hsa046680.86978106
53HIF-1 signaling pathway_Homo sapiens_hsa040660.83980564
54Notch signaling pathway_Homo sapiens_hsa043300.81231552
55Colorectal cancer_Homo sapiens_hsa052100.78721042
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.76944271
57Renal cell carcinoma_Homo sapiens_hsa052110.76655737
58Longevity regulating pathway - mammal_Homo sapiens_hsa042110.76112602
59Cocaine addiction_Homo sapiens_hsa050300.73625106
60Estrogen signaling pathway_Homo sapiens_hsa049150.73499185
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.73123044
62Glycosaminoglycan degradation_Homo sapiens_hsa005310.72737287
63Gap junction_Homo sapiens_hsa045400.71372923
64Insulin resistance_Homo sapiens_hsa049310.70476406
65Phagosome_Homo sapiens_hsa041450.69662638
66Vibrio cholerae infection_Homo sapiens_hsa051100.69242571
67Pertussis_Homo sapiens_hsa051330.68135275
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.67709985
69mTOR signaling pathway_Homo sapiens_hsa041500.67697370
70Endometrial cancer_Homo sapiens_hsa052130.66591642
71AMPK signaling pathway_Homo sapiens_hsa041520.64855759
72Renin-angiotensin system_Homo sapiens_hsa046140.62801971
73Hepatitis B_Homo sapiens_hsa051610.61371531
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.61050141
75VEGF signaling pathway_Homo sapiens_hsa043700.60996298
76Ras signaling pathway_Homo sapiens_hsa040140.60330417
77Aldosterone synthesis and secretion_Homo sapiens_hsa049250.59096627
78Adipocytokine signaling pathway_Homo sapiens_hsa049200.58954918
79Viral carcinogenesis_Homo sapiens_hsa052030.57313471
80GnRH signaling pathway_Homo sapiens_hsa049120.56320043
81Endocytosis_Homo sapiens_hsa041440.55829338
82cGMP-PKG signaling pathway_Homo sapiens_hsa040220.55635357
83Apoptosis_Homo sapiens_hsa042100.55548994
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.55338763
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.53946982
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53594649
87N-Glycan biosynthesis_Homo sapiens_hsa005100.53306676
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53100202
89Sulfur metabolism_Homo sapiens_hsa009200.52863363
90Acute myeloid leukemia_Homo sapiens_hsa052210.52231341
91Thyroid cancer_Homo sapiens_hsa052160.51369405
92cAMP signaling pathway_Homo sapiens_hsa040240.51360961
93FoxO signaling pathway_Homo sapiens_hsa040680.50862307
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50698857
95Insulin signaling pathway_Homo sapiens_hsa049100.48499811
96Non-small cell lung cancer_Homo sapiens_hsa052230.47042846
97Salmonella infection_Homo sapiens_hsa051320.46675660
98Sphingolipid signaling pathway_Homo sapiens_hsa040710.46635107
99Prolactin signaling pathway_Homo sapiens_hsa049170.45994773
100Renin secretion_Homo sapiens_hsa049240.44253364
101Ovarian steroidogenesis_Homo sapiens_hsa049130.42952727
102Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42841767
103Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.41123038
104Lysosome_Homo sapiens_hsa041420.40324893
105Calcium signaling pathway_Homo sapiens_hsa040200.39547016
106Thyroid hormone synthesis_Homo sapiens_hsa049180.39247953
107Lysine degradation_Homo sapiens_hsa003100.38558113
108Dorso-ventral axis formation_Homo sapiens_hsa043200.38365002
109MAPK signaling pathway_Homo sapiens_hsa040100.37637451
110Galactose metabolism_Homo sapiens_hsa000520.37382581
111Choline metabolism in cancer_Homo sapiens_hsa052310.36810692
112Prion diseases_Homo sapiens_hsa050200.36155717
113PPAR signaling pathway_Homo sapiens_hsa033200.33685244
114Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.33669939
115Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33001189
116ErbB signaling pathway_Homo sapiens_hsa040120.31752055
117Osteoclast differentiation_Homo sapiens_hsa043800.29237823
118Oxytocin signaling pathway_Homo sapiens_hsa049210.27785603

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