CGB3

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 is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1thyroid hormone generation (GO:0006590)9.92387490
2response to follicle-stimulating hormone (GO:0032354)9.05833046
3female pregnancy (GO:0007565)8.81144063
4thyroid hormone metabolic process (GO:0042403)7.88247441
5estrogen metabolic process (GO:0008210)7.59521517
6regulation of gonadotropin secretion (GO:0032276)7.28261767
7endothelial cell proliferation (GO:0001935)6.94848328
8androgen biosynthetic process (GO:0006702)6.93793334
9sprouting angiogenesis (GO:0002040)6.92594794
10glucocorticoid biosynthetic process (GO:0006704)6.62715293
11vascular endothelial growth factor receptor signaling pathway (GO:0048010)6.58634271
12negative regulation of blood vessel endothelial cell migration (GO:0043537)6.49131917
13multi-multicellular organism process (GO:0044706)6.25505581
14thyroid gland development (GO:0030878)6.08834722
15negative regulation of organ growth (GO:0046621)5.91316835
16positive regulation of hair follicle development (GO:0051798)5.87387903
17positive regulation of hair cycle (GO:0042635)5.87387903
18blood vessel maturation (GO:0001955)5.78572589
19prostate gland growth (GO:0060736)5.58288369
20L-alpha-amino acid transmembrane transport (GO:1902475)5.57656404
21multi-organism reproductive process (GO:0044703)5.54452544
22syncytium formation (GO:0006949)5.52344560
23C21-steroid hormone biosynthetic process (GO:0006700)5.38468574
24vitamin transmembrane transport (GO:0035461)5.38008147
25negative regulation of activin receptor signaling pathway (GO:0032926)5.26632300
26androgen metabolic process (GO:0008209)5.19177794
27positive regulation of blood vessel endothelial cell migration (GO:0043536)5.04180490
28peptide hormone processing (GO:0016486)4.89213755
29trabecula formation (GO:0060343)4.88626741
30maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.80828104
31protein retention in ER lumen (GO:0006621)4.68665748
32tooth mineralization (GO:0034505)4.66067489
33positive regulation of growth hormone secretion (GO:0060124)4.62975171
34hormone biosynthetic process (GO:0042446)4.44714571
35wound healing, spreading of epidermal cells (GO:0035313)4.36640121
36cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.26963691
37regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.25783154
38negative regulation of endothelial cell migration (GO:0010596)4.13501518
39response to insecticide (GO:0017085)4.11728861
40keratinocyte development (GO:0003334)3.99572741
41response to gonadotropin (GO:0034698)3.91695462
42cranial suture morphogenesis (GO:0060363)3.91333773
43DNA replication initiation (GO:0006270)3.87637715
44progesterone metabolic process (GO:0042448)3.77245988
45regulation of hair follicle development (GO:0051797)3.75535655
46regulation of G0 to G1 transition (GO:0070316)3.71860251
47cytoskeletal anchoring at plasma membrane (GO:0007016)3.70454521
48mating behavior (GO:0007617)3.59845878
49epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)3.59701838
50glucocorticoid metabolic process (GO:0008211)3.46004708
51outflow tract septum morphogenesis (GO:0003148)3.44308719
52sphingoid metabolic process (GO:0046519)3.42324747
53wound healing, spreading of cells (GO:0044319)3.34117426
54ketone biosynthetic process (GO:0042181)3.33934321
55collecting duct development (GO:0072044)3.30589765
56ER overload response (GO:0006983)3.30551518
57negative regulation of epidermal cell differentiation (GO:0045605)3.28794579
58positive regulation of protein kinase C signaling (GO:0090037)3.27494665
59female genitalia development (GO:0030540)3.25077218
60organ regeneration (GO:0031100)3.15824582
61regulation of growth hormone secretion (GO:0060123)3.15769106
62positive regulation of meiotic cell cycle (GO:0051446)3.15485433
63iron ion import (GO:0097286)3.08046568
64positive regulation of epidermis development (GO:0045684)3.07119837
65basement membrane organization (GO:0071711)3.06857244
66placenta development (GO:0001890)3.05448527
67heme transport (GO:0015886)3.03392309
68negative regulation of epithelial cell migration (GO:0010633)3.02086187
69polarized epithelial cell differentiation (GO:0030859)3.00876998
70sphingosine metabolic process (GO:0006670)2.98205471
71regulation of histone phosphorylation (GO:0033127)2.92469980
72regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.91939953
73craniofacial suture morphogenesis (GO:0097094)2.89501275
74bundle of His cell to Purkinje myocyte communication (GO:0086069)2.87649163
75branching involved in labyrinthine layer morphogenesis (GO:0060670)2.83516084
76regulation of mitotic spindle organization (GO:0060236)2.82864885
77endodermal cell differentiation (GO:0035987)2.82718770
78COPI coating of Golgi vesicle (GO:0048205)2.81664364
79Golgi transport vesicle coating (GO:0048200)2.81664364
80desmosome organization (GO:0002934)2.77418697
81C21-steroid hormone metabolic process (GO:0008207)2.73349515
82N-glycan processing (GO:0006491)2.72381295
83anatomical structure maturation (GO:0071695)2.65639037
84regulation of blood vessel endothelial cell migration (GO:0043535)2.63805783
85osteoblast development (GO:0002076)2.60840396
86surfactant homeostasis (GO:0043129)2.58880243
87response to phenylpropanoid (GO:0080184)2.58619569
88diol metabolic process (GO:0034311)2.58329363
89regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901212.56214641
90protein maturation by protein folding (GO:0022417)2.54875007
91positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-2.54646750
92positive regulation of endothelial cell migration (GO:0010595)2.54117993
93regulation of spindle organization (GO:0090224)2.50372221
94mitotic metaphase plate congression (GO:0007080)2.47218132
95regulation of keratinocyte differentiation (GO:0045616)2.46601575
96regulation of hair cycle (GO:0042634)2.43008514
97estrogen biosynthetic process (GO:0006703)19.0673206
98endocrine hormone secretion (GO:0060986)13.3064700
99bone trabecula formation (GO:0060346)12.7196172
100activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)11.5662410

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human9.21725533
2SCL_19346495_ChIP-Seq_HPC-7_Human3.21509459
3ZNF263_19887448_ChIP-Seq_K562_Human3.15306387
4HIF1A_21447827_ChIP-Seq_MCF-7_Human2.84819729
5FOXM1_23109430_ChIP-Seq_U2OS_Human2.77651228
6TP63_17297297_ChIP-ChIP_HaCaT_Human2.73735247
7ESR1_15608294_ChIP-ChIP_MCF-7_Human2.69701585
8ESR2_21235772_ChIP-Seq_MCF-7_Human2.53376705
9TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.48134479
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.40844456
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.30835465
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.19845612
13ESR1_21235772_ChIP-Seq_MCF-7_Human2.18640350
14PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.12804392
15PPAR_26484153_Chip-Seq_NCI-H1993_Human1.89499599
16P63_26484246_Chip-Seq_KERATINOCYTES_Human1.85100217
17RACK7_27058665_Chip-Seq_MCF-7_Human1.76808507
18E2F7_22180533_ChIP-Seq_HELA_Human1.76665822
19PKCTHETA_26484144_Chip-Seq_BREAST_Human1.69555455
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.67203661
21CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.59822045
22YY1_22570637_ChIP-Seq_MALME-3M_Human1.59508230
23TP53_22127205_ChIP-Seq_IMR90_Human1.56363826
24LXR_22292898_ChIP-Seq_THP-1_Human1.56092322
25AR_21909140_ChIP-Seq_LNCAP_Human1.54372987
26TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.53707868
27BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.50482088
28GATA1_26923725_Chip-Seq_HPCs_Mouse1.50099542
29TP63_22573176_ChIP-Seq_HFKS_Human1.48749456
30PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.46928771
31UBF1/2_26484160_Chip-Seq_HMECs_Human1.44728340
32DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.44523981
33EGR1_19032775_ChIP-ChIP_M12_Human1.43544471
34CTCF_27219007_Chip-Seq_ERYTHROID_Human1.41817451
35SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.33623735
36ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.32675053
37TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.32329699
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.30187070
39CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.25516904
40FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.23796318
41GATA3_24758297_ChIP-Seq_MCF-7_Human1.19936685
42HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.19461277
43DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.15181776
44TP63_19390658_ChIP-ChIP_HaCaT_Human1.13937521
45TET1_21451524_ChIP-Seq_MESCs_Mouse1.12852218
46EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.11943194
47TET1_21490601_ChIP-Seq_MESCs_Mouse1.11613503
48CTCF_20526341_ChIP-Seq_ESCs_Human1.11490879
49KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.09974487
50KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.09974487
51KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.09974487
52TRIM28_21343339_ChIP-Seq_HEK293_Human1.09843378
53TTF2_22483619_ChIP-Seq_HELA_Human1.09473310
54RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.07428812
55ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.07324626
56KDM2B_26808549_Chip-Seq_K562_Human1.07228594
57XRN2_22483619_ChIP-Seq_HELA_Human1.06652825
58KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.06465590
59RARG_19884340_ChIP-ChIP_MEFs_Mouse1.05665039
60AHR_22903824_ChIP-Seq_MCF-7_Human1.03487412
61CSB_26484114_Chip-Seq_FIBROBLAST_Human1.02612626
62CLOCK_20551151_ChIP-Seq_293T_Human1.02348046
63VDR_21846776_ChIP-Seq_THP-1_Human1.01580761
64KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.01089613
65TCF3_18692474_ChIP-Seq_MEFs_Mouse0.99450608
66RARA_24833708_ChIP-Seq_LIVER_Mouse0.99255235
67ELK3_25401928_ChIP-Seq_HUVEC_Human0.99232584
68ESR1_20079471_ChIP-ChIP_T-47D_Human0.98177083
69P68_20966046_ChIP-Seq_HELA_Human0.97875732
70EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97139573
71ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.97075696
72MYC_19079543_ChIP-ChIP_MESCs_Mouse0.95085411
73MYC_18555785_ChIP-Seq_MESCs_Mouse0.94443745
74CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.93876691
75KLF4_18555785_ChIP-Seq_MESCs_Mouse0.93789392
76SRY_22984422_ChIP-ChIP_TESTIS_Rat0.93311679
77MYC_19030024_ChIP-ChIP_MESCs_Mouse0.92234507
78GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.91400286
79EGR1_19374776_ChIP-ChIP_THP-1_Human0.91249800
80SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.91035953
81GATA4_25053715_ChIP-Seq_YYC3_Human0.90990539
82SA1_27219007_Chip-Seq_ERYTHROID_Human0.90807668
83MYC_18358816_ChIP-ChIP_MESCs_Mouse0.90471479
84NELFA_20434984_ChIP-Seq_ESCs_Mouse0.89921494
85JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89816042
86SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88647424
87NCOR1_26117541_ChIP-Seq_K562_Human0.88129765
88ATF3_27146783_Chip-Seq_COLON_Human0.87906670
89SOX2_27498859_Chip-Seq_STOMACH_Mouse0.86341402
90TCF7_22412390_ChIP-Seq_EML_Mouse0.86141414
91PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85752687
92MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.84707305
93RXR_22158963_ChIP-Seq_LIVER_Mouse0.84646637
94JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.84398172
95SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.84236533
96SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.84236533
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83443837
98P300_27268052_Chip-Seq_Bcells_Human0.82451130
99CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.82311472
100RUNX1_27514584_Chip-Seq_MCF-7_Human0.81336023

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002876_abnormal_thyroid_physiology7.74286029
2MP0000003_abnormal_adipose_tissue6.68778233
3MP0009697_abnormal_copulation5.50362240
4MP0000013_abnormal_adipose_tissue3.82740856
5MP0002163_abnormal_gland_morphology3.42849451
6MP0005375_adipose_tissue_phenotype3.19198654
7MP0010307_abnormal_tumor_latency3.04188908
8MP0005451_abnormal_body_composition2.91500578
9MP0000647_abnormal_sebaceous_gland2.82051069
10MP0005023_abnormal_wound_healing2.80904419
11MP0000681_abnormal_thyroid_gland2.75165450
12MP0002160_abnormal_reproductive_system2.61683976
13MP0005379_endocrine/exocrine_gland_phen2.48462383
14MP0009115_abnormal_fat_cell2.40576461
15MP0009672_abnormal_birth_weight2.24537291
16MP0005389_reproductive_system_phenotype2.22705716
17MP0005076_abnormal_cell_differentiation2.12149647
18MP0002098_abnormal_vibrissa_morphology2.05882676
19MP0003705_abnormal_hypodermis_morpholog2.01114972
20MP0003448_altered_tumor_morphology1.91601779
21MP0004782_abnormal_surfactant_physiolog1.91255663
22MP0005647_abnormal_sex_gland1.90995960
23MP0001919_abnormal_reproductive_system1.84977243
24MP0002909_abnormal_adrenal_gland1.70415846
25MP0009703_decreased_birth_body1.67209813
26MP0005257_abnormal_intraocular_pressure1.61961115
27MP0010094_abnormal_chromosome_stability1.57465625
28MP0004185_abnormal_adipocyte_glucose1.50331915
29MP0006276_abnormal_autonomic_nervous1.49624182
30MP0001440_abnormal_grooming_behavior1.47026120
31MP0003936_abnormal_reproductive_system1.46978752
32MP0003566_abnormal_cell_adhesion1.44840464
33MP0003453_abnormal_keratinocyte_physiol1.41120445
34MP0002796_impaired_skin_barrier1.38752586
35MP0001881_abnormal_mammary_gland1.34566425
36MP0000377_abnormal_hair_follicle1.31979058
37MP0009333_abnormal_splenocyte_physiolog1.31287756
38MP0003941_abnormal_skin_development1.28610171
39MP0002086_abnormal_extraembryonic_tissu1.22570933
40MP0000627_abnormal_mammary_gland1.21368593
41MP0000427_abnormal_hair_cycle1.19126566
42MP0005334_abnormal_fat_pad1.17605675
43MP0000639_abnormal_adrenal_gland1.17302055
44MP0004019_abnormal_vitamin_homeostasis1.14342593
45MP0002210_abnormal_sex_determination1.13924331
46MP0003959_abnormal_lean_body1.09860589
47MP0000631_abnormal_neuroendocrine_gland1.09748772
48MP0005501_abnormal_skin_physiology1.06772035
49MP0002127_abnormal_cardiovascular_syste1.05893575
50MP0000750_abnormal_muscle_regeneration1.00295003
51MP0001216_abnormal_epidermal_layer0.99431630
52MP0000383_abnormal_hair_follicle0.94792564
53MP0000613_abnormal_salivary_gland0.93801716
54MP0003718_maternal_effect0.93123541
55MP0004264_abnormal_extraembryonic_tissu0.91929876
56MP0000358_abnormal_cell_content/0.89841099
57MP0010368_abnormal_lymphatic_system0.88384825
58MP0001661_extended_life_span0.86977324
59MP0003693_abnormal_embryo_hatching0.85170723
60MP0006082_CNS_inflammation0.85046924
61MP0003984_embryonic_growth_retardation0.80519804
62MP0000367_abnormal_coat/_hair0.79919796
63MP0003567_abnormal_fetal_cardiomyocyte0.79368281
64MP0003115_abnormal_respiratory_system0.78729318
65MP0002970_abnormal_white_adipose0.77054846
66MP0002088_abnormal_embryonic_growth/wei0.76462868
67MP0008775_abnormal_heart_ventricle0.76124601
68MP0001697_abnormal_embryo_size0.75126933
69MP0002653_abnormal_ependyma_morphology0.73760535
70MP0005380_embryogenesis_phenotype0.73192974
71MP0001672_abnormal_embryogenesis/_devel0.73192974
72MP0001188_hyperpigmentation0.71431437
73MP0004957_abnormal_blastocyst_morpholog0.70317379
74MP0001730_embryonic_growth_arrest0.70058013
75MP0006138_congestive_heart_failure0.69149528
76MP0005408_hypopigmentation0.68962052
77MP0004272_abnormal_basement_membrane0.67783451
78MP0001145_abnormal_male_reproductive0.67589722
79MP0001243_abnormal_dermal_layer0.67017506
80MP0002148_abnormal_hypersensitivity_rea0.62879257
81MP0003077_abnormal_cell_cycle0.61877664
82MP0002925_abnormal_cardiovascular_devel0.60790982
83MP0004147_increased_porphyrin_level0.59810907
84MP0010678_abnormal_skin_adnexa0.59099610
85MP0010352_gastrointestinal_tract_polyps0.59095344
86MP0005409_darkened_coat_color0.58625115
87MP0006054_spinal_hemorrhage0.56864744
88MP0005197_abnormal_uvea_morphology0.55784911
89MP0002080_prenatal_lethality0.55691567
90MP0000350_abnormal_cell_proliferation0.55347707
91MP0003699_abnormal_female_reproductive0.54964596
92MP0005623_abnormal_meninges_morphology0.54285172
93MP0001731_abnormal_postnatal_growth0.54240366
94MP0001119_abnormal_female_reproductive0.53714736
95MP0000653_abnormal_sex_gland0.53694526
96MP0001929_abnormal_gametogenesis0.53120645
97MP0001756_abnormal_urination0.52924839
98MP0003698_abnormal_male_reproductive0.51747578
99MP0005330_cardiomyopathy0.50998123
100MP0002075_abnormal_coat/hair_pigmentati0.50919809

Predicted human phenotypes

RankGene SetZ-score
1Cervical subluxation (HP:0003308)7.85074889
2Broad metatarsal (HP:0001783)7.34714319
3Ankle contracture (HP:0006466)6.33697915
4Aplasia cutis congenita (HP:0001057)5.86975264
5Protrusio acetabuli (HP:0003179)5.80752441
6Wrist flexion contracture (HP:0001239)5.39648066
7Decreased number of large peripheral myelinated nerve fibers (HP:0003387)4.70260124
8Vertebral compression fractures (HP:0002953)4.64052954
9Amelogenesis imperfecta (HP:0000705)4.47145851
10Hypergonadotropic hypogonadism (HP:0000815)4.24589888
11Capillary hemangiomas (HP:0005306)3.96550969
12Fragile nails (HP:0001808)3.89881597
13Short nail (HP:0001799)3.84221526
1411 pairs of ribs (HP:0000878)3.79378442
15Widely patent fontanelles and sutures (HP:0004492)3.75734267
16Abnormality of the parietal bone (HP:0002696)3.44575577
17Impulsivity (HP:0100710)3.42466733
18Woolly hair (HP:0002224)3.38256859
19Narrow nasal bridge (HP:0000446)3.38037272
20Abnormality of dental color (HP:0011073)3.36673273
21Abnormality of the frontal sinuses (HP:0002687)3.35439807
22Hip contracture (HP:0003273)3.26539276
23Birth length less than 3rd percentile (HP:0003561)3.21275819
24Abnormal sex determination (HP:0012244)3.18650892
25Sex reversal (HP:0012245)3.18650892
26Skin nodule (HP:0200036)3.03458175
27Broad distal phalanx of finger (HP:0009836)2.93749966
28Testicular atrophy (HP:0000029)2.93288259
29Spinal cord compression (HP:0002176)2.91643133
30Hyperglycinemia (HP:0002154)2.89374270
31Upper limb muscle weakness (HP:0003484)2.87519178
32Fragile skin (HP:0001030)2.86578398
33Breast hypoplasia (HP:0003187)2.84120958
34Male infertility (HP:0003251)2.80611588
35Female pseudohermaphroditism (HP:0010458)2.76693639
36Short clavicles (HP:0000894)2.73345361
37Aplasia of the musculature (HP:0100854)2.64892248
38Depressed nasal tip (HP:0000437)2.63421652
39Abnormality of the dental root (HP:0006486)2.62963078
40Taurodontia (HP:0000679)2.62963078
41Abnormality of permanent molar morphology (HP:0011071)2.62963078
42Nonimmune hydrops fetalis (HP:0001790)2.60925764
43Oligodactyly (hands) (HP:0001180)2.55780945
44Aplasia/Hypoplasia of the clavicles (HP:0006710)2.55297206
45Split foot (HP:0001839)2.53203153
46Right ventricular cardiomyopathy (HP:0011663)2.51038528
47Abnormality of molar (HP:0011077)2.48428469
48Abnormality of molar morphology (HP:0011070)2.48428469
49Delayed closure of the anterior fontanelle (HP:0001476)2.46208117
50Hyperglycinuria (HP:0003108)2.42502593
51Bowed forearm bones (HP:0003956)2.39096975
52Bowing of the arm (HP:0006488)2.39096975
53Wide cranial sutures (HP:0010537)2.37847618
54Absent hand (HP:0004050)2.36771862
55Tarsal synostosis (HP:0008368)2.33117920
56Annular pancreas (HP:0001734)2.32477271
57Abnormality of the dental pulp (HP:0006479)2.30974998
58Mesangial abnormality (HP:0001966)2.20646254
59Duplicated collecting system (HP:0000081)2.18463397
60Chromosomal breakage induced by crosslinking agents (HP:0003221)2.13724254
61Split hand (HP:0001171)2.11433988
62Sparse lateral eyebrow (HP:0005338)2.08040933
63Abnormality of carpal bone ossification (HP:0006257)2.07808120
64Synostosis involving bones of the lower limbs (HP:0009138)2.06282674
65Synostosis involving bones of the feet (HP:0009140)2.06282674
66Aplastic anemia (HP:0001915)2.05751439
67Absent radius (HP:0003974)2.05324507
68Aplasia involving forearm bones (HP:0009822)2.04985432
69Absent forearm bone (HP:0003953)2.04985432
70Radial bowing (HP:0002986)2.04936943
71Delayed gross motor development (HP:0002194)2.02666367
72Oligodactyly (HP:0012165)1.96836319
73Abnormal auditory evoked potentials (HP:0006958)1.94368741
74Long palpebral fissure (HP:0000637)1.92839920
75Ectopic kidney (HP:0000086)1.92017315
76Missing ribs (HP:0000921)1.91369269
77Hypoplastic nipples (HP:0002557)1.90973715
78Congenital ichthyosiform erythroderma (HP:0007431)1.90609127
79Ureteral duplication (HP:0000073)1.90288888
80Limited hip movement (HP:0008800)1.89187696
81Renal salt wasting (HP:0000127)1.88293544
82Coronal craniosynostosis (HP:0004440)1.86657477
83Chromsome breakage (HP:0040012)1.85967265
84Accelerated skeletal maturation (HP:0005616)1.84126696
85Abnormality of the renal collecting system (HP:0004742)1.81984789
86Abnormality of the aortic arch (HP:0012303)1.81756295
87Poikiloderma (HP:0001029)1.79609458
88Hyperaldosteronism (HP:0000859)1.78870862
89Vaginal fistula (HP:0004320)1.76901788
90Basal cell carcinoma (HP:0002671)1.74215086
91Dislocated radial head (HP:0003083)1.73027556
92Osteomalacia (HP:0002749)1.70931336
93Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.70050413
94Esophageal varix (HP:0002040)1.68455064
95Back pain (HP:0003418)1.66792072
96Abnormal vertebral ossification (HP:0100569)1.66594387
97Abnormality of the radial head (HP:0003995)1.65896389
98Bilateral microphthalmos (HP:0007633)1.65549828
99Kyphoscoliosis (HP:0002751)1.65230702
100Severe short stature (HP:0003510)1.63396971

Predicted kinase interactions (KEA)

RankGene SetZ-score
1AKT36.74288624
2ICK5.05180679
3KDR4.95553193
4MST44.08775919
5NME13.69280729
6PDGFRA2.90544878
7MST1R2.48657059
8WEE12.45202146
9EPHA22.36177702
10TYRO32.34373308
11MET1.92351317
12MAP3K71.83765263
13NME21.79012685
14PBK1.75683803
15GSK3A1.69459986
16SMG11.65497758
17NEK91.53209459
18LATS21.53077668
19STK101.37721455
20MAPK151.33512076
21PTK21.25711895
22BUB11.25250303
23MAP2K11.23626350
24DAPK21.22857113
25TGFBR11.19782519
26RPS6KB21.19781654
27TRIB31.16504517
28AKT21.12837671
29BRSK21.08462355
30CDK61.06762927
31BMX0.99387813
32NEK10.97905667
33PRKCI0.97873407
34CDK70.95277359
35PIM10.94248451
36PDGFRB0.93641168
37PKN10.87969122
38EIF2AK30.85152113
39PLK10.84943447
40PDPK10.84138502
41BRAF0.84011244
42PAK40.82208052
43PRKD20.80171190
44PDK20.76644585
45TESK20.74719980
46AURKB0.73309205
47MARK20.73013130
48ERBB40.70992393
49LATS10.70650414
50MAP3K80.67832375
51STK380.66386866
52LRRK20.63846131
53PTK60.62956596
54MTOR0.62935873
55KSR20.62732698
56RPS6KA20.62580163
57MATK0.61150070
58PTK2B0.60374720
59SRC0.60144820
60CDK40.60024801
61EIF2AK10.58321259
62NEK60.57410474
63CDK120.57033453
64PLK30.54252091
65CHEK20.54155130
66BLK0.51581609
67TTK0.50847993
68CCNB10.50406025
69AURKA0.49421943
70DYRK1B0.43229547
71CHEK10.41988140
72SGK30.41591396
73PASK0.40992053
74RPS6KC10.40872389
75RPS6KL10.40872389
76RPS6KA60.39957332
77MAPK110.39351545
78PRKD10.37345836
79MAPK10.35478559
80MAP3K20.35433133
81CDK10.33801930
82DAPK10.33767336
83PRKCZ0.32127334
84PRKG20.32127144
85CDK20.32005324
86EGFR0.31557148
87PRKD30.29993847
88INSR0.29503206
89MAP3K100.29498069
90RIPK10.29202736
91NEK20.28630088
92MELK0.28060642
93WNK40.26964905
94DAPK30.26237190
95TGFBR20.26043507
96RPS6KA10.25764496
97CDK80.24025424
98PAK10.22148982
99KSR10.20718857
100BRSK10.20446204

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049137.65359455
2Steroid hormone biosynthesis_Homo sapiens_hsa001403.82815224
3N-Glycan biosynthesis_Homo sapiens_hsa005102.80920233
4Thyroid hormone synthesis_Homo sapiens_hsa049182.65082118
5Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.35296747
6Autoimmune thyroid disease_Homo sapiens_hsa053202.32428115
7p53 signaling pathway_Homo sapiens_hsa041152.27091847
8Prolactin signaling pathway_Homo sapiens_hsa049172.23828634
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.17815277
10PI3K-Akt signaling pathway_Homo sapiens_hsa041512.11095707
11GnRH signaling pathway_Homo sapiens_hsa049122.08570670
12Bladder cancer_Homo sapiens_hsa052192.00655798
13Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.99861260
14Cell cycle_Homo sapiens_hsa041101.73561831
15Ras signaling pathway_Homo sapiens_hsa040141.71270115
16HIF-1 signaling pathway_Homo sapiens_hsa040661.68251752
17Rap1 signaling pathway_Homo sapiens_hsa040151.62907288
18Folate biosynthesis_Homo sapiens_hsa007901.61399046
19Small cell lung cancer_Homo sapiens_hsa052221.61272573
20Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.59498106
21Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.58771844
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.57833568
23Prostate cancer_Homo sapiens_hsa052151.44957769
24Inositol phosphate metabolism_Homo sapiens_hsa005621.44777718
25Mineral absorption_Homo sapiens_hsa049781.40120432
26Selenocompound metabolism_Homo sapiens_hsa004501.33956345
27Jak-STAT signaling pathway_Homo sapiens_hsa046301.30570063
28Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.29600701
29Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.28236755
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26631198
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.17912866
32Sphingolipid metabolism_Homo sapiens_hsa006001.16634502
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.09675387
34Focal adhesion_Homo sapiens_hsa045101.08499947
35Pathways in cancer_Homo sapiens_hsa052001.05896392
36Hippo signaling pathway_Homo sapiens_hsa043901.03592258
37Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.90380840
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.88595237
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88098289
40Vitamin digestion and absorption_Homo sapiens_hsa049770.87762769
41RNA transport_Homo sapiens_hsa030130.85647963
42Arginine and proline metabolism_Homo sapiens_hsa003300.83933574
43DNA replication_Homo sapiens_hsa030300.79766108
44Adherens junction_Homo sapiens_hsa045200.79259799
45Thyroid cancer_Homo sapiens_hsa052160.77892217
46Oocyte meiosis_Homo sapiens_hsa041140.76160655
47Basal cell carcinoma_Homo sapiens_hsa052170.74163861
48Sulfur relay system_Homo sapiens_hsa041220.73889151
49Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.73718631
50Proteoglycans in cancer_Homo sapiens_hsa052050.72114868
51Phosphatidylinositol signaling system_Homo sapiens_hsa040700.72054836
52Nucleotide excision repair_Homo sapiens_hsa034200.69758906
53Endometrial cancer_Homo sapiens_hsa052130.68608226
54MicroRNAs in cancer_Homo sapiens_hsa052060.67438739
55Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.67137801
56Renal cell carcinoma_Homo sapiens_hsa052110.66135257
57Hedgehog signaling pathway_Homo sapiens_hsa043400.64281052
58Aldosterone synthesis and secretion_Homo sapiens_hsa049250.63933994
59Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63091460
60mRNA surveillance pathway_Homo sapiens_hsa030150.62477213
61Fructose and mannose metabolism_Homo sapiens_hsa000510.60235109
62Acute myeloid leukemia_Homo sapiens_hsa052210.58838102
63Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.53665005
64Estrogen signaling pathway_Homo sapiens_hsa049150.52767593
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51125644
66ECM-receptor interaction_Homo sapiens_hsa045120.49194809
67FoxO signaling pathway_Homo sapiens_hsa040680.48786014
68Hepatitis B_Homo sapiens_hsa051610.48333918
69Endocytosis_Homo sapiens_hsa041440.46565272
70Mismatch repair_Homo sapiens_hsa034300.46524756
71Tight junction_Homo sapiens_hsa045300.46023743
72Viral carcinogenesis_Homo sapiens_hsa052030.45567144
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.43574773
74Fanconi anemia pathway_Homo sapiens_hsa034600.43333614
75Galactose metabolism_Homo sapiens_hsa000520.42722071
76Basal transcription factors_Homo sapiens_hsa030220.41331290
77Renin-angiotensin system_Homo sapiens_hsa046140.40174229
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40162502
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39708153
80Chronic myeloid leukemia_Homo sapiens_hsa052200.39618660
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.37591953
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37280056
83Sphingolipid signaling pathway_Homo sapiens_hsa040710.35296941
84Homologous recombination_Homo sapiens_hsa034400.34939962
85Protein digestion and absorption_Homo sapiens_hsa049740.34910028
86Ether lipid metabolism_Homo sapiens_hsa005650.34083981
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31643913
88Pyrimidine metabolism_Homo sapiens_hsa002400.31299981
89Leukocyte transendothelial migration_Homo sapiens_hsa046700.30823515
90Measles_Homo sapiens_hsa051620.30232218
91Non-homologous end-joining_Homo sapiens_hsa034500.29929035
92ErbB signaling pathway_Homo sapiens_hsa040120.29550159
93Base excision repair_Homo sapiens_hsa034100.27904531
94Melanogenesis_Homo sapiens_hsa049160.27883153
95Insulin signaling pathway_Homo sapiens_hsa049100.26815766
96Spliceosome_Homo sapiens_hsa030400.26402159
97Melanoma_Homo sapiens_hsa052180.23868716
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.23230867
99Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.22921531
100Insulin resistance_Homo sapiens_hsa049310.21847313

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