PSG4

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: The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antigen (CEA) gene family and may play a role in regulation of the innate immune system. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to follicle-stimulating hormone (GO:0032354)9.47327812
2regulation of gonadotropin secretion (GO:0032276)9.09607654
3* female pregnancy (GO:0007565)8.90974916
4estrogen metabolic process (GO:0008210)8.51411245
5glucocorticoid biosynthetic process (GO:0006704)7.77051692
6prostate gland growth (GO:0060736)7.40529550
7androgen biosynthetic process (GO:0006702)6.57487894
8* multi-multicellular organism process (GO:0044706)6.40710510
9androgen metabolic process (GO:0008209)5.90320549
10* multi-organism reproductive process (GO:0044703)5.58772379
11sequestering of extracellular ligand from receptor (GO:0035581)5.34417523
12positive regulation of growth hormone secretion (GO:0060124)5.31839979
13positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-4.99745309
14vascular endothelial growth factor signaling pathway (GO:0038084)4.97455105
15myoblast fusion (GO:0007520)4.66555706
16glucocorticoid metabolic process (GO:0008211)4.56783110
17lymphangiogenesis (GO:0001946)4.55914286
18bone trabecula formation (GO:0060346)4.51097636
19endocrine hormone secretion (GO:0060986)4.42176605
20hormone biosynthetic process (GO:0042446)4.27622532
21syncytium formation (GO:0006949)4.17913986
22syncytium formation by plasma membrane fusion (GO:0000768)4.16103046
23response to gonadotropin (GO:0034698)4.12290595
24negative regulation of activin receptor signaling pathway (GO:0032926)4.07786259
25regulation of growth hormone secretion (GO:0060123)4.06473536
26skin morphogenesis (GO:0043589)3.98753612
27endodermal cell differentiation (GO:0035987)3.94035175
28collagen fibril organization (GO:0030199)3.89114057
29blood vessel maturation (GO:0001955)3.86803191
30protein heterotrimerization (GO:0070208)3.84701286
31lymph vessel development (GO:0001945)3.82221590
32sprouting angiogenesis (GO:0002040)3.81676348
33hemidesmosome assembly (GO:0031581)3.79320331
34JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.74553390
35cell migration involved in heart development (GO:0060973)3.73739324
36vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.73200020
37cellular response to vitamin (GO:0071295)3.66623804
38sphingoid metabolic process (GO:0046519)3.66284664
39type B pancreatic cell proliferation (GO:0044342)3.64842200
40basement membrane organization (GO:0071711)3.63726511
41positive regulation of protein kinase C signaling (GO:0090037)3.56282003
42collecting duct development (GO:0072044)3.55666619
43bone morphogenesis (GO:0060349)3.47930658
44negative regulation of osteoblast proliferation (GO:0033689)3.44682149
45extracellular regulation of signal transduction (GO:1900115)3.43382285
46extracellular negative regulation of signal transduction (GO:1900116)3.43382285
47extracellular matrix assembly (GO:0085029)3.40485535
48cell adhesion mediated by integrin (GO:0033627)3.34566095
49endocardial cushion development (GO:0003197)3.26486290
50eyelid development in camera-type eye (GO:0061029)3.21204512
51mesenchymal-epithelial cell signaling (GO:0060638)3.16388326
52vitamin transmembrane transport (GO:0035461)3.14044539
53cell-substrate junction assembly (GO:0007044)3.11153815
54substrate-dependent cell migration (GO:0006929)3.05770318
55polarized epithelial cell differentiation (GO:0030859)3.00368893
56adhesion of symbiont to host cell (GO:0044650)2.90614524
57virion attachment to host cell (GO:0019062)2.90614524
58regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.89378311
59mesodermal cell differentiation (GO:0048333)2.86669682
60negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.84543754
61kidney mesenchyme development (GO:0072074)2.84493171
62regulation of integrin-mediated signaling pathway (GO:2001044)2.83202000
63smooth muscle tissue development (GO:0048745)2.80476119
64negative regulation of BMP signaling pathway (GO:0030514)2.80035679
65heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.79893399
66chondrocyte proliferation (GO:0035988)2.79884705
67positive regulation of cartilage development (GO:0061036)2.79202727
68desmosome organization (GO:0002934)2.78829898
69adhesion of symbiont to host (GO:0044406)2.78582911
70regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.77806041
71wound healing, spreading of epidermal cells (GO:0035313)2.71924094
72adherens junction assembly (GO:0034333)2.70096352
73regulation of transforming growth factor beta1 production (GO:0032908)2.69561064
74negative regulation of cell-matrix adhesion (GO:0001953)2.67675344
75cellular response to vitamin D (GO:0071305)2.67230350
76cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.64861919
77endothelial cell morphogenesis (GO:0001886)2.62701100
78protein localization to endosome (GO:0036010)2.60966841
79positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.60869229
80collagen metabolic process (GO:0032963)2.60746487
81neuron projection extension involved in neuron projection guidance (GO:1902284)2.59582900
82axon extension involved in axon guidance (GO:0048846)2.59582900
83pericardium development (GO:0060039)2.59275742
84extracellular matrix disassembly (GO:0022617)2.59179506
85insulin-like growth factor receptor signaling pathway (GO:0048009)2.58210262
86blood vessel morphogenesis (GO:0048514)2.56894857
87cell migration involved in sprouting angiogenesis (GO:0002042)2.56207430
88positive regulation of receptor recycling (GO:0001921)2.55554887
89anterior/posterior axis specification, embryo (GO:0008595)2.53432958
90cytoskeleton-dependent cytokinesis (GO:0061640)2.53124365
91iron ion import (GO:0097286)2.49573009
92hyaluronan catabolic process (GO:0030214)2.47773936
93positive regulation of blood vessel endothelial cell migration (GO:0043536)2.47507197
94regulation of G0 to G1 transition (GO:0070316)2.46325502
95cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.46251190
96negative regulation of protein localization to plasma membrane (GO:1903077)2.46142543
97trabecula formation (GO:0060343)2.45902683
98mitotic cytokinesis (GO:0000281)2.45597527
99apoptotic cell clearance (GO:0043277)2.44601999
100estrogen biosynthetic process (GO:0006703)19.3355340

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human6.85941088
2TRIM28_21343339_ChIP-Seq_HEK293_Human5.03576881
3PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.68109284
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.67572816
5* BRD4_25478319_ChIP-Seq_HGPS_Human3.02470365
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.00219997
7TP53_18474530_ChIP-ChIP_U2OS_Human2.73443018
8CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.68447257
9* EGR1_19032775_ChIP-ChIP_M12_Human2.64062304
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.34012337
11WT1_19549856_ChIP-ChIP_CCG9911_Human2.28832754
12CJUN_26792858_Chip-Seq_BT549_Human2.28005755
13TRIM28_17542650_ChIP-ChIP_NTERA2_Human2.22529477
14TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.20772025
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.20037224
16* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.19518915
17PPAR_26484153_Chip-Seq_NCI-H1993_Human2.19382943
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.18375446
19AHR_22903824_ChIP-Seq_MCF-7_Human2.16640185
20PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.14995471
21ZNF217_24962896_ChIP-Seq_MCF-7_Human2.08616363
22RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.03932034
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.98939213
24CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.95748204
25EP300_21415370_ChIP-Seq_HL-1_Mouse1.92526614
26* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.84924954
27BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.82393026
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.80468030
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.77771354
30SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.76540028
31SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.76540028
32ARNT_22903824_ChIP-Seq_MCF-7_Human1.75145314
33SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.68752009
34NRF2_20460467_ChIP-Seq_MEFs_Mouse1.67691114
35NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.67691114
36EZH2_18974828_ChIP-Seq_MESCs_Mouse1.64593499
37RNF2_18974828_ChIP-Seq_MESCs_Mouse1.64593499
38SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.62632959
39ESR1_21235772_ChIP-Seq_MCF-7_Human1.62452441
40ESR1_20079471_ChIP-ChIP_T-47D_Human1.61583980
41JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.61228512
42SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.57577273
43ZNF263_19887448_ChIP-Seq_K562_Human1.51401926
44HIF1A_21447827_ChIP-Seq_MCF-7_Human1.50866271
45UBF1/2_26484160_Chip-Seq_HMECs_Human1.46913938
46SOX9_24532713_ChIP-Seq_HFSC_Mouse1.44640014
47EED_16625203_ChIP-ChIP_MESCs_Mouse1.43473746
48FOXO3_23340844_ChIP-Seq_DLD1_Human1.40652949
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39637758
50TP53_16413492_ChIP-PET_HCT116_Human1.38141995
51EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.37344674
52GATA2_21666600_ChIP-Seq_HMVEC_Human1.35613147
53TP63_23658742_ChIP-Seq_EP156T_Human1.30744156
54SA1_22415368_ChIP-Seq_MEFs_Mouse1.28607708
55FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.28462613
56TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.28265302
57SOX2_20726797_ChIP-Seq_SW620_Human1.26689248
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24971677
59SMC1_22415368_ChIP-Seq_MEFs_Mouse1.23591651
60CLOCK_20551151_ChIP-Seq_293T_Human1.22882568
61PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.22585423
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.22360239
63NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.19022260
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.18695744
65TP53_22127205_ChIP-Seq_IMR90_Human1.18038975
66SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.16681727
67ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14497297
68SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.13630755
69WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.12525013
70ELK3_25401928_ChIP-Seq_HUVEC_Human1.09673717
71JARID2_20075857_ChIP-Seq_MESCs_Mouse1.09451535
72ISL1_27105846_Chip-Seq_CPCs_Mouse1.09416552
73RXR_22108803_ChIP-Seq_LS180_Human1.09247908
74ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09074087
75MTF2_20144788_ChIP-Seq_MESCs_Mouse1.06047513
76CTNNB1_20460455_ChIP-Seq_HCT116_Human1.05019885
77SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.04626460
78TBX20_22328084_ChIP-Seq_HEART_Mouse1.02543018
79TBX20_22080862_ChIP-Seq_HEART_Mouse1.02543018
80PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.00507029
81TP53_20018659_ChIP-ChIP_R1E_Mouse0.99098697
82* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.98718454
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.98693739
84EGR1_19374776_ChIP-ChIP_THP-1_Human0.98331432
85KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97723955
86SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.96863302
87RNF2_27304074_Chip-Seq_ESCs_Mouse0.94497481
88SALL4_18804426_ChIP-ChIP_XEN_Mouse0.94324161
89P300_27058665_Chip-Seq_ZR-75-30cells_Human0.93744912
90NFIB_24661679_ChIP-Seq_LUNG_Mouse0.92449068
91VDR_24787735_ChIP-Seq_THP-1_Human0.92414772
92TP53_23651856_ChIP-Seq_MEFs_Mouse0.92293343
93JARID2_20064375_ChIP-Seq_MESCs_Mouse0.91429239
94EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89986465
95GATA3_24758297_ChIP-Seq_MCF-7_Human0.88734419
96TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86958440
97SMC3_22415368_ChIP-Seq_MEFs_Mouse0.86845400
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86786159
99TBX3_20139965_ChIP-Seq_ESCs_Mouse0.86444978
100TBX3_20139965_ChIP-Seq_MESCs_Mouse0.86076674

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009697_abnormal_copulation6.62358896
2MP0008438_abnormal_cutaneous_collagen5.89891966
3MP0003705_abnormal_hypodermis_morpholog3.94698745
4MP0010368_abnormal_lymphatic_system3.71750503
5MP0003941_abnormal_skin_development3.55639452
6MP0002163_abnormal_gland_morphology3.54431504
7MP0005503_abnormal_tendon_morphology3.36414970
8MP0001958_emphysema3.35497887
9MP0005275_abnormal_skin_tensile3.35048316
10MP0004272_abnormal_basement_membrane3.31951544
11MP0006054_spinal_hemorrhage3.19235925
12MP0003279_aneurysm3.02380256
13MP0009384_cardiac_valve_regurgitation2.92687064
14MP0000013_abnormal_adipose_tissue2.83924334
15MP0005379_endocrine/exocrine_gland_phen2.40156832
16MP0005257_abnormal_intraocular_pressure2.37481990
17MP0003950_abnormal_plasma_membrane2.34117426
18MP0006276_abnormal_autonomic_nervous2.34030387
19MP0005023_abnormal_wound_healing2.28177447
20MP0003566_abnormal_cell_adhesion2.22645401
21MP0000003_abnormal_adipose_tissue1.98730043
22MP0002295_abnormal_pulmonary_circulatio1.77847287
23MP0001542_abnormal_bone_strength1.73413293
24MP0005647_abnormal_sex_gland1.71195579
25MP0003091_abnormal_cell_migration1.65060291
26MP0001919_abnormal_reproductive_system1.62896336
27MP0003959_abnormal_lean_body1.59367190
28MP0010352_gastrointestinal_tract_polyps1.58627873
29MP0005623_abnormal_meninges_morphology1.57972878
30MP0002060_abnormal_skin_morphology1.56617483
31MP0000767_abnormal_smooth_muscle1.46773538
32MP0009780_abnormal_chondrocyte_physiolo1.43752837
33MP0001879_abnormal_lymphatic_vessel1.34694541
34MP0001243_abnormal_dermal_layer1.31347997
35MP0000534_abnormal_ureter_morphology1.27109115
36MP0001440_abnormal_grooming_behavior1.25716981
37MP0002998_abnormal_bone_remodeling1.23272313
38MP0006138_congestive_heart_failure1.22174031
39MP0001299_abnormal_eye_distance/1.21927236
40MP0005508_abnormal_skeleton_morphology1.20200062
41MP0002896_abnormal_bone_mineralization1.16051533
42MP0010386_abnormal_urinary_bladder1.15162981
43MP0002108_abnormal_muscle_morphology1.08873438
44MP0003385_abnormal_body_wall1.07896529
45MP0003936_abnormal_reproductive_system1.07062454
46MP0000613_abnormal_salivary_gland1.04740718
47MP0005389_reproductive_system_phenotype1.03324809
48MP0002128_abnormal_blood_circulation1.02759412
49MP0000751_myopathy1.01549648
50MP0000759_abnormal_skeletal_muscle0.96595395
51MP0009250_abnormal_appendicular_skeleto0.96284284
52MP0003453_abnormal_keratinocyte_physiol0.93856738
53MP0005595_abnormal_vascular_smooth0.92960682
54MP0000639_abnormal_adrenal_gland0.92360732
55MP0009115_abnormal_fat_cell0.91517664
56MP0004858_abnormal_nervous_system0.87617831
57MP0002971_abnormal_brown_adipose0.85702998
58MP0002876_abnormal_thyroid_physiology0.84138289
59MP0003942_abnormal_urinary_system0.83188678
60MP0003191_abnormal_cellular_cholesterol0.81564164
61MP0003795_abnormal_bone_structure0.81362271
62MP0002075_abnormal_coat/hair_pigmentati0.79996944
63MP0005375_adipose_tissue_phenotype0.79884211
64MP0004019_abnormal_vitamin_homeostasis0.79698152
65MP0001756_abnormal_urination0.78732950
66MP0005171_absent_coat_pigmentation0.75445552
67MP0000733_abnormal_muscle_development0.74607631
68MP0003448_altered_tumor_morphology0.74302746
69MP0000681_abnormal_thyroid_gland0.74131357
70MP0009053_abnormal_anal_canal0.72952151
71MP0001915_intracranial_hemorrhage0.72504925
72MP0004947_skin_inflammation0.69985614
73MP0000762_abnormal_tongue_morphology0.69409878
74MP0005164_abnormal_response_to0.68880363
75MP0005409_darkened_coat_color0.68452517
76MP0009703_decreased_birth_body0.68191718
77MP0000647_abnormal_sebaceous_gland0.67916098
78MP0001348_abnormal_lacrimal_gland0.67317606
79MP0001666_abnormal_nutrient_absorption0.65133117
80MP0003828_pulmonary_edema0.64238005
81MP0002115_abnormal_skeleton_extremities0.61833218
82MP0000428_abnormal_craniofacial_morphol0.61406202
83MP0002113_abnormal_skeleton_development0.60890992
84MP0001614_abnormal_blood_vessel0.60844554
85MP0004134_abnormal_chest_morphology0.60564723
86MP0000230_abnormal_systemic_arterial0.59886800
87MP0001340_abnormal_eyelid_morphology0.58358951
88MP0001186_pigmentation_phenotype0.58245288
89MP0005197_abnormal_uvea_morphology0.57996847
90MP0001849_ear_inflammation0.57919333
91MP0005390_skeleton_phenotype0.57561146
92MP0003115_abnormal_respiratory_system0.56689941
93MP0000579_abnormal_nail_morphology0.56654902
94MP0005058_abnormal_lysosome_morphology0.55521788
95MP0000538_abnormal_urinary_bladder0.55229208
96MP0005193_abnormal_anterior_eye0.54502191
97MP0002925_abnormal_cardiovascular_devel0.53489963
98MP0005076_abnormal_cell_differentiation0.53224608
99MP0000432_abnormal_head_morphology0.52459960
100MP0002877_abnormal_melanocyte_morpholog0.52170787

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)6.82059211
2Premature rupture of membranes (HP:0001788)6.03295556
3Aortic aneurysm (HP:0004942)5.42642262
4Vascular tortuosity (HP:0004948)4.65832864
5Wormian bones (HP:0002645)4.45552158
6Aortic dissection (HP:0002647)4.30916855
7Nonimmune hydrops fetalis (HP:0001790)4.27855622
8Ankle contracture (HP:0006466)4.10133104
9Follicular hyperkeratosis (HP:0007502)4.07907698
10Atrophic scars (HP:0001075)4.03840895
11Capillary hemangiomas (HP:0005306)3.91127141
12Cervical subluxation (HP:0003308)3.80315890
13Arterial tortuosity (HP:0005116)3.79256623
14Fragile skin (HP:0001030)3.72054029
15Broad metatarsal (HP:0001783)3.68491078
16Upper limb muscle weakness (HP:0003484)3.60181993
17Decreased number of large peripheral myelinated nerve fibers (HP:0003387)3.48141109
18Soft skin (HP:0000977)3.47123857
19Dilatation of the ascending aorta (HP:0005111)3.28558398
20Vertebral compression fractures (HP:0002953)3.26872742
21Bladder diverticulum (HP:0000015)3.26200100
22Blue sclerae (HP:0000592)3.17843943
23Shallow orbits (HP:0000586)3.17834079
24Hypergonadotropic hypogonadism (HP:0000815)3.11978315
25Type 1 muscle fiber predominance (HP:0003803)3.11242799
26Spinal rigidity (HP:0003306)3.09256112
27Spondylolisthesis (HP:0003302)3.05357369
28Neonatal short-limb short stature (HP:0008921)3.01702062
29Overgrowth (HP:0001548)2.99536236
30Abnormality of dentin (HP:0010299)2.95785453
31Genu recurvatum (HP:0002816)2.94265537
32Cardiovascular calcification (HP:0011915)2.92386200
33Elbow flexion contracture (HP:0002987)2.88002330
34Disproportionate tall stature (HP:0001519)2.77799014
35Sparse lateral eyebrow (HP:0005338)2.70539903
36Slender build (HP:0001533)2.70110798
37Osteolytic defects of the phalanges of the hand (HP:0009771)2.65509086
38Osteolytic defects of the hand bones (HP:0009699)2.65509086
39Back pain (HP:0003418)2.57177212
40Mitral regurgitation (HP:0001653)2.56618001
41Mitral valve prolapse (HP:0001634)2.49301143
42Aortic regurgitation (HP:0001659)2.44972296
43Bowel diverticulosis (HP:0005222)2.43908473
44Biconcave vertebral bodies (HP:0004586)2.43463727
45Aneurysm (HP:0002617)2.43299268
46Peritonitis (HP:0002586)2.40191790
47Coronal craniosynostosis (HP:0004440)2.36977541
48Natal tooth (HP:0000695)2.35099102
49Mildly elevated creatine phosphokinase (HP:0008180)2.32049321
50Joint laxity (HP:0001388)2.31726550
51Morphological abnormality of the middle ear (HP:0008609)2.31540510
52Mitral stenosis (HP:0001718)2.31224851
53Aortic valve stenosis (HP:0001650)2.29960537
54Increased connective tissue (HP:0009025)2.29332723
55Abnormality of the acetabulum (HP:0003170)2.24483460
56Accelerated skeletal maturation (HP:0005616)2.23774474
57Genu valgum (HP:0002857)2.23499526
58Delayed gross motor development (HP:0002194)2.21983273
59Long eyelashes (HP:0000527)2.17143503
60Cerebral aneurysm (HP:0004944)2.15988909
61Flat cornea (HP:0007720)2.13686830
62Joint stiffness (HP:0001387)2.13311535
63Protruding ear (HP:0000411)2.12918167
64Ovoid vertebral bodies (HP:0003300)2.12247613
65Muscle fibrillation (HP:0010546)2.12190385
66Abnormal auditory evoked potentials (HP:0006958)2.11400365
67Increased variability in muscle fiber diameter (HP:0003557)2.09001044
68Tongue fasciculations (HP:0001308)2.08386029
69Short nail (HP:0001799)2.07529730
70Aplasia of the musculature (HP:0100854)2.05849011
71Knee flexion contracture (HP:0006380)2.03317273
72Hypoplasia of the iris (HP:0007676)2.03031220
73Camptodactyly of toe (HP:0001836)2.02517573
74Hypoventilation (HP:0002791)1.99873976
75Abnormal pupillary function (HP:0007686)1.99559811
76Long palpebral fissure (HP:0000637)1.98521511
77Syringomyelia (HP:0003396)1.98228209
78Spinal cord lesions (HP:0100561)1.98228209
79Wide anterior fontanel (HP:0000260)1.96101436
80Long toe (HP:0010511)1.95658385
81Hyperextensible skin (HP:0000974)1.94613230
82Venous abnormality (HP:0002624)1.94595943
83Abnormality of liposaccharide metabolism (HP:0010968)1.93246028
84Abnormality of glycosphingolipid metabolism (HP:0004343)1.93246028
85Abnormality of glycolipid metabolism (HP:0010969)1.93246028
86Vascular calcification (HP:0004934)1.91874775
87Venous insufficiency (HP:0005293)1.90670386
88Ulnar bowing (HP:0003031)1.85670948
89Arachnodactyly (HP:0001166)1.85000954
90Short clavicles (HP:0000894)1.83297428
91Abnormality of carpal bone ossification (HP:0006257)1.81158617
92Distal lower limb muscle weakness (HP:0009053)1.79640453
93Broad ribs (HP:0000885)1.78603642
94Flared iliac wings (HP:0002869)1.78234468
95Ectopia lentis (HP:0001083)1.77944531
96Abnormal delivery (HP:0001787)1.77871794
97Redundant skin (HP:0001582)1.74948000
98Hip contracture (HP:0003273)1.74613409
99Abnormality of skull ossification (HP:0002703)1.73384850
100Distal lower limb amyotrophy (HP:0008944)1.73016531

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA6.71123041
2AKT36.06924712
3KDR5.50334350
4MYLK3.50953627
5NEK92.95202473
6PDGFRB2.60326853
7DDR22.31401424
8ICK2.02694770
9PTK21.99509478
10RIPK11.99134410
11MET1.81324705
12LATS11.81108289
13STK381.80384141
14NTRK11.74342819
15DAPK21.73009547
16PRKD21.70967670
17PAK21.69928143
18TGFBR21.67097080
19ERBB41.65975552
20EPHB21.48934240
21TRIB31.29391113
22ERN11.23587500
23DAPK31.18370213
24TRPM71.17912503
25TTN1.15733687
26SIK11.14304089
27EPHA21.12438273
28MST1R1.12161663
29ADRBK11.12017908
30GRK71.11792275
31LATS21.09472261
32RPS6KA21.09112512
33PIM21.06434699
34FLT31.06334238
35CDC42BPA1.04497884
36PAK40.99565015
37LIMK10.93999498
38BLK0.93699037
39KIT0.87869739
40PTK2B0.84527078
41ROCK10.82153716
42MTOR0.81864065
43TIE10.78265605
44INSR0.76968879
45SRC0.76848537
46ABL20.76306242
47TESK10.75429040
48MAP3K70.75328438
49ROCK20.75155487
50DYRK1B0.71332310
51MAP2K10.67793816
52PDPK10.66958626
53MAP2K30.64651196
54TYK20.63158920
55RPS6KC10.63098737
56RPS6KL10.63098737
57PKN10.62895183
58PIK3CG0.62534193
59PAK60.61701852
60MELK0.60934999
61PRKG20.59056521
62MAP3K60.59027582
63GRK50.56492292
64RPS6KA60.55883084
65PRKD10.55405828
66MOS0.55260443
67MAP3K30.52609522
68PTK60.51194701
69CDK120.46311314
70MARK20.46055209
71MAP3K120.43123957
72MAPK70.41914929
73JAK10.41268502
74MAPK110.40954978
75PRKCE0.40801412
76SCYL20.39993706
77STK100.39103113
78DAPK10.38758294
79EGFR0.38296161
80CAMK2G0.37400378
81SMG10.37334460
82BMX0.36867787
83WNK10.35338787
84JAK30.34976635
85MST40.32491492
86STK30.32073451
87GSK3A0.30728553
88CDK80.30364807
89MAPK40.30116884
90ILK0.28594492
91ADRBK20.28242194
92TBK10.27532705
93EPHB10.26321576
94AKT20.25545785
95PLK20.23326026
96TAOK20.22366152
97PKN20.22207157
98AURKB0.20419596
99PAK30.19699418
100MAPK10.19272780

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049135.24583954
2Steroid hormone biosynthesis_Homo sapiens_hsa001404.43333037
3ECM-receptor interaction_Homo sapiens_hsa045123.45012263
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.78234148
5Focal adhesion_Homo sapiens_hsa045102.69208245
6Jak-STAT signaling pathway_Homo sapiens_hsa046302.52921466
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.32738854
8PI3K-Akt signaling pathway_Homo sapiens_hsa041512.25311398
9Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.11092241
10Other glycan degradation_Homo sapiens_hsa005111.86735289
11Proteoglycans in cancer_Homo sapiens_hsa052051.82618485
12N-Glycan biosynthesis_Homo sapiens_hsa005101.79164197
13Sphingolipid metabolism_Homo sapiens_hsa006001.67730728
14AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.61800427
15Bladder cancer_Homo sapiens_hsa052191.56362085
16Small cell lung cancer_Homo sapiens_hsa052221.49883362
17Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.43778524
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.41748501
19Renin-angiotensin system_Homo sapiens_hsa046141.41684416
20Amoebiasis_Homo sapiens_hsa051461.39937524
21Regulation of actin cytoskeleton_Homo sapiens_hsa048101.37821299
22Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.32808370
23Axon guidance_Homo sapiens_hsa043601.32410276
24Adherens junction_Homo sapiens_hsa045201.31002695
25Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.28639849
26Protein digestion and absorption_Homo sapiens_hsa049741.21661165
27Melanoma_Homo sapiens_hsa052181.19366100
28Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.14497459
29TGF-beta signaling pathway_Homo sapiens_hsa043501.13741932
30Dilated cardiomyopathy_Homo sapiens_hsa054141.09572160
31Hippo signaling pathway_Homo sapiens_hsa043901.07564685
32Ras signaling pathway_Homo sapiens_hsa040141.05828594
33MicroRNAs in cancer_Homo sapiens_hsa052061.04934420
34Mineral absorption_Homo sapiens_hsa049781.03872819
35Malaria_Homo sapiens_hsa051441.03450569
36Rap1 signaling pathway_Homo sapiens_hsa040151.02052340
37Pathways in cancer_Homo sapiens_hsa052001.00025715
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.97628519
39Lysosome_Homo sapiens_hsa041420.96330088
40Chronic myeloid leukemia_Homo sapiens_hsa052200.95879031
41Folate biosynthesis_Homo sapiens_hsa007900.94826153
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.92903203
43Inositol phosphate metabolism_Homo sapiens_hsa005620.92488818
44Prostate cancer_Homo sapiens_hsa052150.92218085
45Endocytosis_Homo sapiens_hsa041440.88074705
46Prolactin signaling pathway_Homo sapiens_hsa049170.87726799
47Sphingolipid signaling pathway_Homo sapiens_hsa040710.87227185
48Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.85516648
49Dorso-ventral axis formation_Homo sapiens_hsa043200.83598515
50Glioma_Homo sapiens_hsa052140.81443656
51Leukocyte transendothelial migration_Homo sapiens_hsa046700.81184829
52p53 signaling pathway_Homo sapiens_hsa041150.81069585
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80752746
54Renal cell carcinoma_Homo sapiens_hsa052110.79285420
55Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.79278989
56Tight junction_Homo sapiens_hsa045300.76048366
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.75698063
58Melanogenesis_Homo sapiens_hsa049160.72568425
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.70147207
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.67183790
61Salivary secretion_Homo sapiens_hsa049700.66529054
62Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64623631
63Platelet activation_Homo sapiens_hsa046110.64477364
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.64071234
65GnRH signaling pathway_Homo sapiens_hsa049120.63527528
66Hedgehog signaling pathway_Homo sapiens_hsa043400.63198369
67Central carbon metabolism in cancer_Homo sapiens_hsa052300.62311404
68Complement and coagulation cascades_Homo sapiens_hsa046100.62095077
69Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60169772
70Gap junction_Homo sapiens_hsa045400.59509639
71Thyroid hormone synthesis_Homo sapiens_hsa049180.56422713
72ErbB signaling pathway_Homo sapiens_hsa040120.55962412
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55533256
74Basal cell carcinoma_Homo sapiens_hsa052170.54526203
75TNF signaling pathway_Homo sapiens_hsa046680.53880930
76Neurotrophin signaling pathway_Homo sapiens_hsa047220.53786333
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.53548309
78MAPK signaling pathway_Homo sapiens_hsa040100.52312162
79Pancreatic cancer_Homo sapiens_hsa052120.52140194
80FoxO signaling pathway_Homo sapiens_hsa040680.51962929
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.50185758
82Toxoplasmosis_Homo sapiens_hsa051450.49555484
83Shigellosis_Homo sapiens_hsa051310.49415195
84Endometrial cancer_Homo sapiens_hsa052130.45726650
85Estrogen signaling pathway_Homo sapiens_hsa049150.45500591
86Hepatitis C_Homo sapiens_hsa051600.44909235
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.44092289
88Hepatitis B_Homo sapiens_hsa051610.43574362
89Phagosome_Homo sapiens_hsa041450.43103168
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.40651595
91Wnt signaling pathway_Homo sapiens_hsa043100.39685522
92Prion diseases_Homo sapiens_hsa050200.39430209
93Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38900233
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.37944600
95Acute myeloid leukemia_Homo sapiens_hsa052210.36462550
96Vibrio cholerae infection_Homo sapiens_hsa051100.36435431
97Insulin resistance_Homo sapiens_hsa049310.36338169
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33971258
99Choline metabolism in cancer_Homo sapiens_hsa052310.32746055
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32094345

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