CGB7

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 7 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
1negative regulation of cell aging (GO:0090344)6.65442812
2GDP-mannose metabolic process (GO:0019673)6.51754638
3DNA strand renaturation (GO:0000733)6.19215038
4cellular response to ATP (GO:0071318)6.03292506
5hemidesmosome assembly (GO:0031581)5.84239589
6gonadal mesoderm development (GO:0007506)5.29760086
7regulation of skeletal muscle contraction (GO:0014819)5.29613663
8meiotic chromosome segregation (GO:0045132)5.26640087
9desmosome organization (GO:0002934)5.04068547
10adenosine receptor signaling pathway (GO:0001973)4.70037241
11rRNA methylation (GO:0031167)4.50614053
12protein retention in ER lumen (GO:0006621)4.41286514
13adenine nucleotide transport (GO:0051503)4.36962805
14maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.30183636
15planar cell polarity pathway involved in neural tube closure (GO:0090179)4.28619618
16lens fiber cell differentiation (GO:0070306)4.09765970
17purine ribonucleotide transport (GO:0015868)4.04452179
18positive regulation of protein kinase C signaling (GO:0090037)3.98308429
19regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.90485305
20G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.88127861
21nucleotide-sugar biosynthetic process (GO:0009226)3.87578411
22bone trabecula formation (GO:0060346)3.81589728
23rRNA modification (GO:0000154)3.76787496
24nucleotide transmembrane transport (GO:1901679)3.71738201
25cell-substrate junction assembly (GO:0007044)3.59291531
26regulation of cell aging (GO:0090342)3.55934781
27protein carboxylation (GO:0018214)3.44703569
28peptidyl-glutamic acid carboxylation (GO:0017187)3.44703569
29semaphorin-plexin signaling pathway (GO:0071526)3.41228193
30sensory perception of taste (GO:0050909)3.34216273
31nucleoside transmembrane transport (GO:1901642)3.32422934
32purinergic nucleotide receptor signaling pathway (GO:0035590)3.26239910
33DNA replication checkpoint (GO:0000076)3.25521949
34UV protection (GO:0009650)3.21921967
35polarized epithelial cell differentiation (GO:0030859)3.19898913
36purine nucleotide transport (GO:0015865)3.19061586
37histone phosphorylation (GO:0016572)3.15550600
38urinary tract smooth muscle contraction (GO:0014848)3.13811490
39sex determination (GO:0007530)3.05575987
40endocytic recycling (GO:0032456)3.03501615
41atrioventricular valve morphogenesis (GO:0003181)3.02074236
42cell-substrate adherens junction assembly (GO:0007045)3.00254609
43focal adhesion assembly (GO:0048041)3.00254609
44establishment of apical/basal cell polarity (GO:0035089)2.98981864
45G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.98891431
46bundle of His cell to Purkinje myocyte communication (GO:0086069)2.96361517
47regulation of meiosis (GO:0040020)2.95781886
48response to ATP (GO:0033198)2.93599797
49hippo signaling (GO:0035329)2.92141965
50peristalsis (GO:0030432)2.88352982
51type B pancreatic cell proliferation (GO:0044342)2.88121587
52keratinocyte development (GO:0003334)2.78335771
53ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.78037003
54nucleoside bisphosphate biosynthetic process (GO:0033866)2.78037003
55purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.78037003
56proline biosynthetic process (GO:0006561)2.76926674
57sphingosine metabolic process (GO:0006670)2.76392799
58Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.74204699
59adherens junction assembly (GO:0034333)2.73990195
60regulation of cytokine production involved in inflammatory response (GO:1900015)2.71752276
61sphingomyelin metabolic process (GO:0006684)2.68805118
62positive regulation of catecholamine secretion (GO:0033605)2.67602297
63dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.64075591
64mitotic cell cycle arrest (GO:0071850)2.63215909
65convergent extension (GO:0060026)2.60108320
66notochord development (GO:0030903)2.59388260
67regulation of establishment of planar polarity (GO:0090175)2.57706200
68nucleoside transport (GO:0015858)2.56680849
69regulation of meiotic cell cycle (GO:0051445)2.56432106
70morphogenesis of embryonic epithelium (GO:0016331)2.56326209
71branching involved in salivary gland morphogenesis (GO:0060445)2.56122169
72grooming behavior (GO:0007625)2.55094219
73hair follicle development (GO:0001942)2.52880775
74activation of Rac GTPase activity (GO:0032863)2.51384495
75regulation of hippo signaling (GO:0035330)2.51106769
76actin filament bundle organization (GO:0061572)2.50744804
77actin filament bundle assembly (GO:0051017)2.50744804
78regulation of phospholipid biosynthetic process (GO:0071071)2.50359011
79keratinocyte proliferation (GO:0043616)2.49753965
80melanin biosynthetic process (GO:0042438)2.49701627
81regulation of water loss via skin (GO:0033561)2.49324380
82tRNA modification (GO:0006400)2.46227426
83epithelial cell-cell adhesion (GO:0090136)2.46030929
84plasma membrane repair (GO:0001778)2.45797116
85urogenital system development (GO:0001655)2.45715999
86sympathetic nervous system development (GO:0048485)2.45596114
87establishment of skin barrier (GO:0061436)2.43848864
88purinergic receptor signaling pathway (GO:0035587)2.43676049
89folic acid metabolic process (GO:0046655)2.43416999
90regulation of synapse structural plasticity (GO:0051823)2.43397475
91cochlea morphogenesis (GO:0090103)2.42076125
92G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.41074089
93regulation of cardioblast differentiation (GO:0051890)2.40933451
94negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.40329879
95estrogen biosynthetic process (GO:0006703)2.39807867
96diol metabolic process (GO:0034311)2.37288073
97regulation of translational fidelity (GO:0006450)2.35969239
98wound healing, spreading of epidermal cells (GO:0035313)2.35460882
99mammary gland development (GO:0030879)2.34174922
100establishment of planar polarity (GO:0001736)2.33999804

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.17071812
2RARG_19884340_ChIP-ChIP_MEFs_Mouse3.43841479
3STAT6_21828071_ChIP-Seq_BEAS2B_Human3.16132417
4VDR_21846776_ChIP-Seq_THP-1_Human2.85316856
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.83605625
6FOXM1_23109430_ChIP-Seq_U2OS_Human2.82397003
7LXR_22292898_ChIP-Seq_THP-1_Human2.65163718
8TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.54285493
9DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.46016766
10P68_20966046_ChIP-Seq_HELA_Human2.43177789
11RACK7_27058665_Chip-Seq_MCF-7_Human2.31418773
12XRN2_22483619_ChIP-Seq_HELA_Human2.25882316
13ERG_21242973_ChIP-ChIP_JURKAT_Human2.25689675
14EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.10018154
15ZNF263_19887448_ChIP-Seq_K562_Human2.05335777
16TP53_22127205_ChIP-Seq_IMR90_Human1.98962104
17CTCF_27219007_Chip-Seq_Bcells_Human1.90167677
18ATF3_27146783_Chip-Seq_COLON_Human1.88651271
19CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.85451959
20PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.81820921
21TET1_21451524_ChIP-Seq_MESCs_Mouse1.81234448
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.75382925
23DCP1A_22483619_ChIP-Seq_HELA_Human1.75189079
24ELK3_25401928_ChIP-Seq_HUVEC_Human1.74726917
25RARA_24833708_ChIP-Seq_LIVER_Mouse1.74240587
26MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.72539639
27TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.71634836
28UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.67816802
29CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.67487884
30RARB_24833708_ChIP-Seq_LIVER_Mouse1.66776973
31SMC4_20622854_ChIP-Seq_HELA_Human1.66067130
32E2F1_20622854_ChIP-Seq_HELA_Human1.65256075
33CTCF_27219007_Chip-Seq_ERYTHROID_Human1.63501692
34UBF1/2_26484160_Chip-Seq_HMECs_Human1.59368913
35BCOR_27268052_Chip-Seq_Bcells_Human1.57798549
36PHF8_20622854_ChIP-Seq_HELA_Human1.56068770
37FOXP1_21924763_ChIP-Seq_HESCs_Human1.55870422
38DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.54092737
39HIF1A_21447827_ChIP-Seq_MCF-7_Human1.52439403
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.50480413
41SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.50434065
42BCL6_27268052_Chip-Seq_Bcells_Human1.48770875
43KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.48622610
44RXRA_24833708_ChIP-Seq_LIVER_Mouse1.48588308
45MAF_26560356_Chip-Seq_TH2_Human1.43855634
46SA1_27219007_Chip-Seq_ERYTHROID_Human1.42838574
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.41350253
48CTCF_21964334_Chip-Seq_Bcells_Human1.40327549
49* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.40321689
50ESR2_21235772_ChIP-Seq_MCF-7_Human1.37474986
51SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.37216422
52JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.36699444
53SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.35560029
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34647761
55HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.34357935
56CREB1_26743006_Chip-Seq_LNCaP_Human1.31301594
57MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.29654096
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28927761
59* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.28747714
60EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.26526355
61* TP63_22573176_ChIP-Seq_HFKS_Human1.26092767
62RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.23669793
63SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.23505708
64KDM2B_26808549_Chip-Seq_K562_Human1.22629344
65KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.22206662
66SRY_22984422_ChIP-ChIP_TESTIS_Rat1.19946008
67SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.19225753
68SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.19225753
69SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.18903000
70KLF4_18555785_ChIP-Seq_MESCs_Mouse1.18523942
71SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18277606
72ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.16732889
73TP53_23651856_ChIP-Seq_MEFs_Mouse1.16611801
74CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.16407648
75TCF7_22412390_ChIP-Seq_EML_Mouse1.15909152
76KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.13266963
77CTCF_20526341_ChIP-Seq_ESCs_Human1.12943796
78KDM2B_26808549_Chip-Seq_DND41_Human1.12485917
79FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11482565
80JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.09322776
81TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09279053
82GABP_19822575_ChIP-Seq_HepG2_Human1.09181879
83MYC_18358816_ChIP-ChIP_MESCs_Mouse1.08788387
84ELF1_20517297_ChIP-Seq_JURKAT_Human1.08443249
85ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.08324050
86HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.08313657
87P300_27058665_Chip-Seq_ZR-75-30cells_Human1.08106382
88CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.08017423
89E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.06996232
90RUNX1_27514584_Chip-Seq_MCF-7_Human1.06773065
91E2F7_22180533_ChIP-Seq_HELA_Human1.05636872
92POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.05606825
93SMC3_22415368_ChIP-Seq_MEFs_Mouse1.04361459
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03864220
95YY1_22570637_ChIP-Seq_MALME-3M_Human1.03704313
96CTCF_21964334_ChIP-Seq_BJAB-B_Human1.03164811
97CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.01882554
98NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.01075043
99TP63_19390658_ChIP-ChIP_HaCaT_Human0.99934375
100VDR_24763502_ChIP-Seq_THP-1_Human0.99823629

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation4.85623085
2MP0003705_abnormal_hypodermis_morpholog3.87968835
3MP0005174_abnormal_tail_pigmentation3.70148943
4MP0005409_darkened_coat_color3.65180828
5MP0003136_yellow_coat_color3.57835242
6MP0001986_abnormal_taste_sensitivity3.35488554
7MP0000751_myopathy3.13587665
8MP0005423_abnormal_somatic_nervous3.03089888
9MP0000579_abnormal_nail_morphology2.56030230
10MP0003453_abnormal_keratinocyte_physiol2.46198657
11MP0001188_hyperpigmentation2.33253515
12MP0000750_abnormal_muscle_regeneration2.30343250
13MP0005257_abnormal_intraocular_pressure2.30101753
14MP0010030_abnormal_orbit_morphology2.27542644
15MP0000013_abnormal_adipose_tissue2.24166160
16MP0000003_abnormal_adipose_tissue2.18914570
17MP0005501_abnormal_skin_physiology2.07160249
18MP0003941_abnormal_skin_development1.82831097
19MP0005330_cardiomyopathy1.75965070
20MP0005083_abnormal_biliary_tract1.74695513
21MP0002796_impaired_skin_barrier1.69862698
22MP0005076_abnormal_cell_differentiation1.62056189
23MP0003111_abnormal_nucleus_morphology1.61793863
24MP0004381_abnormal_hair_follicle1.58809055
25MP0002060_abnormal_skin_morphology1.58545880
26MP0005023_abnormal_wound_healing1.53880264
27MP0000015_abnormal_ear_pigmentation1.49457243
28MP0001958_emphysema1.49380987
29MP0003566_abnormal_cell_adhesion1.47900375
30MP0001661_extended_life_span1.46141451
31MP0000467_abnormal_esophagus_morphology1.41920700
32MP0008438_abnormal_cutaneous_collagen1.41771772
33MP0010771_integument_phenotype1.41302601
34MP0004957_abnormal_blastocyst_morpholog1.39608890
35MP0000762_abnormal_tongue_morphology1.38739091
36MP0003693_abnormal_embryo_hatching1.32843051
37MP0000747_muscle_weakness1.31725027
38MP0000733_abnormal_muscle_development1.29672436
39MP0004272_abnormal_basement_membrane1.26176682
40MP0000538_abnormal_urinary_bladder1.26148014
41MP0001849_ear_inflammation1.25764782
42MP0001216_abnormal_epidermal_layer1.24536622
43MP0003091_abnormal_cell_migration1.23105186
44MP0000383_abnormal_hair_follicle1.19486766
45MP0009053_abnormal_anal_canal1.18709943
46MP0000749_muscle_degeneration1.18034482
47MP0000537_abnormal_urethra_morphology1.17621181
48MP0001756_abnormal_urination1.16682249
49MP0001968_abnormal_touch/_nociception1.16553834
50MP0002098_abnormal_vibrissa_morphology1.15382956
51MP0000427_abnormal_hair_cycle1.14577072
52MP0003806_abnormal_nucleotide_metabolis1.13878563
53MP0010234_abnormal_vibrissa_follicle1.08678612
54MP0003077_abnormal_cell_cycle1.08495102
55MP0000759_abnormal_skeletal_muscle1.06913244
56MP0010094_abnormal_chromosome_stability1.06036294
57MP0000566_synostosis1.02974830
58MP0004197_abnormal_fetal_growth/weight/1.01180973
59MP0000377_abnormal_hair_follicle1.00237995
60MP0001502_abnormal_circadian_rhythm1.00108097
61MP0010678_abnormal_skin_adnexa0.99588334
62MP0005375_adipose_tissue_phenotype0.96733764
63MP0004087_abnormal_muscle_fiber0.94162805
64MP0009384_cardiac_valve_regurgitation0.93271592
65MP0003755_abnormal_palate_morphology0.92312687
66MP0003385_abnormal_body_wall0.88577016
67MP0003950_abnormal_plasma_membrane0.87716825
68MP0002160_abnormal_reproductive_system0.87152610
69MP0000358_abnormal_cell_content/0.86097157
70MP0005623_abnormal_meninges_morphology0.82898753
71MP0009780_abnormal_chondrocyte_physiolo0.82377464
72MP0001348_abnormal_lacrimal_gland0.81944452
73MP0003448_altered_tumor_morphology0.81789838
74MP0002234_abnormal_pharynx_morphology0.80913782
75MP0008875_abnormal_xenobiotic_pharmacok0.79938995
76MP0000367_abnormal_coat/_hair0.79620278
77MP0009931_abnormal_skin_appearance0.77749246
78MP0005275_abnormal_skin_tensile0.75460353
79MP0002089_abnormal_postnatal_growth/wei0.74878430
80MP0002896_abnormal_bone_mineralization0.73139199
81MP0003878_abnormal_ear_physiology0.72213323
82MP0005377_hearing/vestibular/ear_phenot0.72213323
83MP0000767_abnormal_smooth_muscle0.70797632
84MP0002736_abnormal_nociception_after0.69177611
85MP0000678_abnormal_parathyroid_gland0.68899753
86MP0004233_abnormal_muscle_weight0.68531266
87MP0002177_abnormal_outer_ear0.66447163
88MP0005197_abnormal_uvea_morphology0.66416917
89MP0009250_abnormal_appendicular_skeleto0.63943863
90MP0001346_abnormal_lacrimal_gland0.63565473
91MP0002080_prenatal_lethality0.61834908
92MP0001243_abnormal_dermal_layer0.61787562
93MP0001299_abnormal_eye_distance/0.61753938
94MP0010307_abnormal_tumor_latency0.61002971
95MP0002086_abnormal_extraembryonic_tissu0.60695280
96MP0003279_aneurysm0.60367512
97MP0005451_abnormal_body_composition0.59778567
98MP0000534_abnormal_ureter_morphology0.58517353
99MP0003935_abnormal_craniofacial_develop0.57933871
100MP0002697_abnormal_eye_size0.57313161

Predicted human phenotypes

RankGene SetZ-score
1Ulnar bowing (HP:0003031)5.56360474
2Poikiloderma (HP:0001029)5.43328525
3Popliteal pterygium (HP:0009756)4.98191687
4Testicular atrophy (HP:0000029)4.60491788
5Rib fusion (HP:0000902)4.46644777
6Squamous cell carcinoma (HP:0002860)4.33684417
7Thin bony cortex (HP:0002753)4.28760813
8Coronal craniosynostosis (HP:0004440)4.19130332
9Turricephaly (HP:0000262)3.89363026
10Rectal fistula (HP:0100590)3.75060981
11Rectovaginal fistula (HP:0000143)3.75060981
12Pterygium (HP:0001059)3.63972681
13Intestinal fistula (HP:0100819)3.62022596
14Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.52503134
15Facial hemangioma (HP:0000329)3.51654877
16Vaginal fistula (HP:0004320)3.47731377
17Aplasia of the musculature (HP:0100854)3.46726653
18Annular pancreas (HP:0001734)3.39116527
19Amniotic constriction ring (HP:0009775)3.16263359
20Abnormality of placental membranes (HP:0011409)3.16263359
21Atrophic scars (HP:0001075)3.15898658
22Bowing of the arm (HP:0006488)3.09384199
23Bowed forearm bones (HP:0003956)3.09384199
24Short chin (HP:0000331)3.05311274
25Abnormality of the intrinsic pathway (HP:0010989)3.00982963
26Delayed epiphyseal ossification (HP:0002663)2.99095069
27Akinesia (HP:0002304)2.96028482
28Attenuation of retinal blood vessels (HP:0007843)2.82677974
29Anteriorly placed anus (HP:0001545)2.82409617
30Cervical subluxation (HP:0003308)2.80340350
31Dyschromatopsia (HP:0007641)2.70397610
32Patellar aplasia (HP:0006443)2.67450009
33Chorioretinal atrophy (HP:0000533)2.67267845
34Facial diplegia (HP:0001349)2.65154504
35Protrusio acetabuli (HP:0003179)2.62584107
36Fetal akinesia sequence (HP:0001989)2.54538062
37Aplasia/Hypoplasia of the patella (HP:0006498)2.49935990
38Breast hypoplasia (HP:0003187)2.47746535
39Abnormality of the neuromuscular junction (HP:0003398)2.41716887
40Fatigable weakness (HP:0003473)2.41716887
41Fragile nails (HP:0001808)2.41530270
42Male infertility (HP:0003251)2.41050931
43Short humerus (HP:0005792)2.33848876
44Choroideremia (HP:0001139)2.33412504
45Aplasia cutis congenita (HP:0001057)2.33218167
46Bony spicule pigmentary retinopathy (HP:0007737)2.31697002
47Joint stiffness (HP:0001387)2.31283496
48Thin ribs (HP:0000883)2.29668505
49Abnormality of nail color (HP:0100643)2.27594875
50Capillary hemangiomas (HP:0005306)2.27444464
51Neonatal respiratory distress (HP:0002643)2.26965750
52Premature rupture of membranes (HP:0001788)2.26194015
53Increased number of teeth (HP:0011069)2.25325427
54Milia (HP:0001056)2.22814104
55Fragile skin (HP:0001030)2.22031438
56Abnormality of the costochondral junction (HP:0000919)2.21101481
57Mesangial abnormality (HP:0001966)2.20550890
58Absent radius (HP:0003974)2.18746284
59Aplasia/hypoplasia of the humerus (HP:0006507)2.14944471
60Narrow nasal bridge (HP:0000446)2.12076254
61Hemorrhage of the eye (HP:0011885)2.11989440
62Congenital stationary night blindness (HP:0007642)2.10769170
63Hypoalbuminemia (HP:0003073)2.09938162
64Abnormal albumin level (HP:0012116)2.09938162
65Fused cervical vertebrae (HP:0002949)2.07638443
66Natal tooth (HP:0000695)2.06154648
67Birth length less than 3rd percentile (HP:0003561)2.04525311
68Myopathic facies (HP:0002058)2.04427952
69Myotonia (HP:0002486)2.03856038
70Malignant hyperthermia (HP:0002047)2.03804794
71Absent forearm bone (HP:0003953)2.03665108
72Aplasia involving forearm bones (HP:0009822)2.03665108
73Choanal stenosis (HP:0000452)2.00664255
74Entropion (HP:0000621)2.00005451
75Lip pit (HP:0100267)1.99514388
76Absent thumb (HP:0009777)1.97831695
77Cheilitis (HP:0100825)1.95957001
78Selective tooth agenesis (HP:0001592)1.92850738
79Broad face (HP:0000283)1.91794745
80Aplasia/Hypoplasia involving the musculature (HP:0001460)1.91503726
81Atrioventricular block (HP:0001678)1.90833589
82Congenital hip dislocation (HP:0001374)1.88508419
83Enlarged epiphyses (HP:0010580)1.88485319
84Hypophosphatemic rickets (HP:0004912)1.87426840
85Right ventricular cardiomyopathy (HP:0011663)1.85904641
86Widely patent fontanelles and sutures (HP:0004492)1.84780522
87Tibial bowing (HP:0002982)1.84693422
88Flat occiput (HP:0005469)1.83974938
89Prolonged partial thromboplastin time (HP:0003645)1.83887448
90Depressed nasal tip (HP:0000437)1.83329136
91Thick nail (HP:0001805)1.78176320
92Plantar hyperkeratosis (HP:0007556)1.75130149
93Exercise-induced myalgia (HP:0003738)1.73488061
94Ankle contracture (HP:0006466)1.71502624
95Bifid uvula (HP:0000193)1.69424626
96Abnormal trabecular bone morphology (HP:0100671)1.68467250
97Tubular atrophy (HP:0000092)1.67575144
98Reduced antithrombin III activity (HP:0001976)1.66383849
99Bladder diverticulum (HP:0000015)1.65658051
100Distal upper limb amyotrophy (HP:0007149)1.65091769

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK155.79175204
2EPHA24.51046237
3MST1R3.99041419
4MET3.22389867
5CDK123.18432672
6TTN2.78515238
7WNK42.69714242
8LATS12.49329619
9SIK12.45033549
10TRIB32.33357386
11ICK2.23274485
12MUSK2.16538699
13LATS21.94320410
14PBK1.93257028
15PTK21.70418872
16TESK21.65148123
17MAP2K31.45887152
18PAK41.35668950
19PIM21.32851125
20FLT31.29442577
21NTRK11.27757107
22MAPKAPK31.27371153
23EPHB21.21019386
24PDGFRA1.15625075
25EEF2K1.12759449
26BMX1.11425310
27STK241.11001999
28SMG11.06592264
29ADRBK11.05852897
30STK381.03864120
31ZAK1.03631782
32RPS6KA21.02039926
33NME21.01168000
34MTOR1.00320556
35TGFBR10.99627892
36NEK20.98319000
37BUB10.97839091
38STK30.94361966
39PKN20.94302451
40STK160.92951520
41MAP2K60.88834117
42PRKD20.88596156
43ARAF0.87864240
44BRD40.85532100
45TTK0.82660545
46CDK80.79649185
47PLK10.79382351
48CHEK20.78296898
49NEK90.73877596
50ERBB40.71088348
51IRAK30.70861236
52WNK10.70804580
53STK38L0.70584902
54AURKA0.70516521
55MAP3K60.70314624
56MELK0.70097618
57CDK60.69166214
58AKT20.68128337
59RPS6KC10.67393292
60RPS6KL10.67393292
61RPS6KA60.66063155
62CDK90.64819421
63DYRK1B0.64475687
64CDK40.63381570
65TLK10.63295396
66IRAK20.62723708
67CDK70.62501691
68NME10.59088005
69PLK40.57857462
70TRPM70.57559293
71CDK11A0.55566175
72CDK150.54618102
73MAP3K30.51070929
74OBSCN0.50562151
75CDK180.49630006
76LIMK10.47404295
77LMTK20.46385338
78PHKG20.46150269
79PHKG10.46150269
80PDPK10.45890566
81DDR20.45783046
82SIK20.44859300
83MAP3K70.44812782
84BRSK10.43552056
85ROCK10.43191260
86PAK10.42630970
87PTK2B0.41846627
88CDK140.41174614
89BMPR1B0.39882678
90RPS6KB20.39346452
91ACVR1B0.39089885
92EIF2AK30.38778594
93ERN10.38621322
94PRKD30.38296361
95MAPK110.38055072
96BLK0.37173488
97TESK10.36842893
98ATR0.36668437
99PRKCI0.36409532
100PAK20.35686824

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006045.01968329
2Sulfur relay system_Homo sapiens_hsa041224.40555047
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.50177828
4Fructose and mannose metabolism_Homo sapiens_hsa000513.30189988
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.89988511
6Glycosaminoglycan degradation_Homo sapiens_hsa005312.32197389
7ECM-receptor interaction_Homo sapiens_hsa045121.99376419
8Hedgehog signaling pathway_Homo sapiens_hsa043401.95508004
9Hippo signaling pathway_Homo sapiens_hsa043901.93316889
10Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.89336600
11Fanconi anemia pathway_Homo sapiens_hsa034601.88016844
12Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.80942976
13Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.63155395
14Sphingolipid metabolism_Homo sapiens_hsa006001.63118384
15p53 signaling pathway_Homo sapiens_hsa041151.59861533
16Bladder cancer_Homo sapiens_hsa052191.56606376
17Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.56281349
18Basal cell carcinoma_Homo sapiens_hsa052171.47103305
19Circadian rhythm_Homo sapiens_hsa047101.39638730
20Cell cycle_Homo sapiens_hsa041101.34417463
21Small cell lung cancer_Homo sapiens_hsa052221.26075799
22Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.24641988
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.15199316
24Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.13738811
25Focal adhesion_Homo sapiens_hsa045101.13683204
26Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.11975898
27Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.09331651
28Dilated cardiomyopathy_Homo sapiens_hsa054141.02677237
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02170445
30Central carbon metabolism in cancer_Homo sapiens_hsa052301.00388129
31Homologous recombination_Homo sapiens_hsa034400.99636560
32Galactose metabolism_Homo sapiens_hsa000520.98031637
33Notch signaling pathway_Homo sapiens_hsa043300.97267166
34Base excision repair_Homo sapiens_hsa034100.95243230
35N-Glycan biosynthesis_Homo sapiens_hsa005100.94598184
36Melanogenesis_Homo sapiens_hsa049160.94315323
37Biosynthesis of amino acids_Homo sapiens_hsa012300.91777374
38Proteoglycans in cancer_Homo sapiens_hsa052050.90788119
39Inositol phosphate metabolism_Homo sapiens_hsa005620.87194184
40Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.86450191
41TGF-beta signaling pathway_Homo sapiens_hsa043500.85322492
42Basal transcription factors_Homo sapiens_hsa030220.84822105
43MicroRNAs in cancer_Homo sapiens_hsa052060.84653053
44Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.84164404
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.83675024
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.82419590
47Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79982978
48Ovarian steroidogenesis_Homo sapiens_hsa049130.79281910
49Melanoma_Homo sapiens_hsa052180.79124182
50mRNA surveillance pathway_Homo sapiens_hsa030150.77654031
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77428300
52Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.75322875
53Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.73971046
54Pyrimidine metabolism_Homo sapiens_hsa002400.72797379
55Cyanoamino acid metabolism_Homo sapiens_hsa004600.71855122
56Lysine degradation_Homo sapiens_hsa003100.71695731
57Other glycan degradation_Homo sapiens_hsa005110.70370770
58PI3K-Akt signaling pathway_Homo sapiens_hsa041510.69462876
59Axon guidance_Homo sapiens_hsa043600.67503858
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.66761098
61Phenylalanine metabolism_Homo sapiens_hsa003600.66100109
62Protein digestion and absorption_Homo sapiens_hsa049740.65867552
63Nucleotide excision repair_Homo sapiens_hsa034200.65849926
64Tight junction_Homo sapiens_hsa045300.65716370
65RNA transport_Homo sapiens_hsa030130.64276278
66RNA polymerase_Homo sapiens_hsa030200.63268042
67Arginine biosynthesis_Homo sapiens_hsa002200.62734424
68Pathways in cancer_Homo sapiens_hsa052000.62209618
69Endocytosis_Homo sapiens_hsa041440.61306903
70Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61149725
71Regulation of actin cytoskeleton_Homo sapiens_hsa048100.60253948
72Arginine and proline metabolism_Homo sapiens_hsa003300.58179935
73Glutathione metabolism_Homo sapiens_hsa004800.57823248
74Taste transduction_Homo sapiens_hsa047420.56597526
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56470963
76VEGF signaling pathway_Homo sapiens_hsa043700.55510508
77Calcium signaling pathway_Homo sapiens_hsa040200.55181722
78Adherens junction_Homo sapiens_hsa045200.54015202
79Vitamin digestion and absorption_Homo sapiens_hsa049770.51807766
80DNA replication_Homo sapiens_hsa030300.51025831
81Pyruvate metabolism_Homo sapiens_hsa006200.49883240
82Pentose phosphate pathway_Homo sapiens_hsa000300.49776156
83Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.45471768
84Gap junction_Homo sapiens_hsa045400.44985057
85AMPK signaling pathway_Homo sapiens_hsa041520.44914848
86Chronic myeloid leukemia_Homo sapiens_hsa052200.44122824
87Amoebiasis_Homo sapiens_hsa051460.43781249
88One carbon pool by folate_Homo sapiens_hsa006700.43248120
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.40768691
90Wnt signaling pathway_Homo sapiens_hsa043100.39303010
91mTOR signaling pathway_Homo sapiens_hsa041500.38234006
92Lysosome_Homo sapiens_hsa041420.37784440
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36561234
94MAPK signaling pathway_Homo sapiens_hsa040100.36437907
95Glucagon signaling pathway_Homo sapiens_hsa049220.36152995
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35445606
97Insulin signaling pathway_Homo sapiens_hsa049100.34945663
98Thyroid cancer_Homo sapiens_hsa052160.33772389
99Rap1 signaling pathway_Homo sapiens_hsa040150.31803009
100ABC transporters_Homo sapiens_hsa020100.30005731

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