PSG6

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 pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* multi-multicellular organism process (GO:0044706)9.13864871
2androgen metabolic process (GO:0008209)9.10690764
3* multi-organism reproductive process (GO:0044703)7.95231120
4regulation of growth hormone secretion (GO:0060123)7.47484854
5glucocorticoid metabolic process (GO:0008211)7.15454368
6hormone biosynthetic process (GO:0042446)6.73938556
7myoblast fusion (GO:0007520)5.97409108
8positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-5.91801334
9response to gonadotropin (GO:0034698)5.82593936
10vitamin transmembrane transport (GO:0035461)5.81601518
11JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)5.61949218
12syncytium formation (GO:0006949)5.57785976
13collecting duct development (GO:0072044)5.56589642
14positive regulation of protein kinase C signaling (GO:0090037)5.41254334
15syncytium formation by plasma membrane fusion (GO:0000768)5.27357017
16sphingoid metabolic process (GO:0046519)5.26108915
17lymphangiogenesis (GO:0001946)5.05135238
18endocrine hormone secretion (GO:0060986)5.04334542
19negative regulation of activin receptor signaling pathway (GO:0032926)5.03291059
20vascular endothelial growth factor signaling pathway (GO:0038084)4.54952421
21cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.11407020
22parturition (GO:0007567)4.06745837
23bone morphogenesis (GO:0060349)4.05013686
24lymph vessel development (GO:0001945)3.77203284
25sequestering of extracellular ligand from receptor (GO:0035581)3.69112472
26T-helper 1 type immune response (GO:0042088)3.59083300
27regulation of interferon-gamma biosynthetic process (GO:0045072)3.58580276
28sprouting angiogenesis (GO:0002040)3.54620018
29positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.52881626
30myelin maintenance (GO:0043217)3.34902440
31vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.30734253
32cellular hormone metabolic process (GO:0034754)3.29797393
33interkinetic nuclear migration (GO:0022027)3.28389253
34protein neddylation (GO:0045116)3.21598957
35iron ion import (GO:0097286)3.06937626
36regulation of endocrine process (GO:0044060)3.05939963
37keratinocyte development (GO:0003334)3.04281544
38estrogen biosynthetic process (GO:0006703)29.2361959
39JAK-STAT cascade (GO:0007259)2.98989165
40eyelid development in camera-type eye (GO:0061029)2.98301881
41positive regulation of insulin receptor signaling pathway (GO:0046628)2.83067939
42negative regulation of smooth muscle cell differentiation (GO:0051151)2.81461757
43regulation of G0 to G1 transition (GO:0070316)2.77050202
44L-alpha-amino acid transmembrane transport (GO:1902475)2.74805241
45sphingosine metabolic process (GO:0006670)2.72151696
46negative regulation of cell-matrix adhesion (GO:0001953)2.65566639
47progesterone metabolic process (GO:0042448)2.64274273
48steroid biosynthetic process (GO:0006694)2.57885384
49antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.54113273
50basement membrane organization (GO:0071711)2.52656439
51C21-steroid hormone biosynthetic process (GO:0006700)2.51723567
52hormone metabolic process (GO:0042445)2.46757565
53diol metabolic process (GO:0034311)2.46500503
54mating behavior (GO:0007617)2.44558931
55transcytosis (GO:0045056)2.43447920
56import into cell (GO:0098657)2.38819640
57adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)2.37196884
58regulation of ruffle assembly (GO:1900027)2.37134668
59regulation of protein kinase C signaling (GO:0090036)2.35711055
60polarized epithelial cell differentiation (GO:0030859)2.33041863
61ear development (GO:0043583)2.31283856
62positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.30612192
63establishment of protein localization to Golgi (GO:0072600)2.30451860
64fibroblast migration (GO:0010761)2.26023034
65protein targeting to Golgi (GO:0000042)2.23328253
66extracellular negative regulation of signal transduction (GO:1900116)2.22247141
67extracellular regulation of signal transduction (GO:1900115)2.22247141
68mitotic cytokinesis (GO:0000281)2.22214536
69ketone biosynthetic process (GO:0042181)2.22005538
70regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.21405002
71regulation of hippo signaling (GO:0035330)2.18809024
72female genitalia development (GO:0030540)2.17177534
73blood vessel morphogenesis (GO:0048514)2.16312159
74cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.15315874
75regulation of integrin-mediated signaling pathway (GO:2001044)2.09093755
76retrograde transport, vesicle recycling within Golgi (GO:0000301)2.08155842
77cytoskeleton-dependent cytokinesis (GO:0061640)2.07787901
78lung vasculature development (GO:0060426)2.07527303
79thyroid hormone generation (GO:0006590)2.07424260
80positive regulation of cartilage development (GO:0061036)2.07389437
81UDP-N-acetylglucosamine metabolic process (GO:0006047)2.05234883
82negative regulation of myoblast differentiation (GO:0045662)2.04753510
83thyroid hormone metabolic process (GO:0042403)2.03096064
84regulation of calcium ion-dependent exocytosis (GO:0017158)2.03035893
85regulation of clathrin-mediated endocytosis (GO:2000369)2.01651972
86Leydig cell differentiation (GO:0033327)2.01413455
87response to follicle-stimulating hormone (GO:0032354)13.9136213
88regulation of gonadotropin secretion (GO:0032276)13.2186803
89estrogen metabolic process (GO:0008210)12.8903862
90* female pregnancy (GO:0007565)12.5847938
91glucocorticoid biosynthetic process (GO:0006704)12.2088097
92prostate gland growth (GO:0060736)11.5494818
93positive regulation of growth hormone secretion (GO:0060124)10.4468827
94androgen biosynthetic process (GO:0006702)10.3734079
95cellular response to gonadotropin stimulus (GO:0071371)1.99347083
96response to insecticide (GO:0017085)1.98361607
97wound healing, spreading of epidermal cells (GO:0035313)1.96915553
98positive regulation of alpha-beta T cell proliferation (GO:0046641)1.95682082
99negative regulation of macrophage differentiation (GO:0045650)1.95058565
100smooth muscle tissue development (GO:0048745)1.91209409

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human9.32314745
2EGR1_19032775_ChIP-ChIP_M12_Human5.10969153
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.31524282
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.13316776
5TRIM28_17542650_ChIP-ChIP_NTERA2_Human2.81434047
6CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.71768474
7TP53_18474530_ChIP-ChIP_U2OS_Human2.47623805
8CDX2_19796622_ChIP-Seq_MESCs_Mouse2.36643640
9ESR1_20079471_ChIP-ChIP_T-47D_Human2.32810164
10* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.27098831
11ZNF217_24962896_ChIP-Seq_MCF-7_Human2.12444762
12CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.11558260
13* AHR_22903824_ChIP-Seq_MCF-7_Human2.10861833
14JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.07971438
15PPAR_26484153_Chip-Seq_NCI-H1993_Human1.87383121
16ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.80694935
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.80466029
18BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.79011148
19* BRD4_25478319_ChIP-Seq_HGPS_Human1.78588795
20* ARNT_22903824_ChIP-Seq_MCF-7_Human1.78541029
21ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.67883184
22* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.64116728
23PIAS1_25552417_ChIP-Seq_VCAP_Human1.63211593
24CJUN_26792858_Chip-Seq_BT549_Human1.60544509
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.59952181
26PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59553733
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.54274332
28ESR1_21235772_ChIP-Seq_MCF-7_Human1.52119467
29RXR_22108803_ChIP-Seq_LS180_Human1.51369053
30ER_23166858_ChIP-Seq_MCF-7_Human1.46467066
31VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.42664215
32FOXO3_23340844_ChIP-Seq_DLD1_Human1.39350240
33RNF2_18974828_ChIP-Seq_MESCs_Mouse1.34344736
34EZH2_18974828_ChIP-Seq_MESCs_Mouse1.34344736
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.32807812
36P300_19829295_ChIP-Seq_ESCs_Human1.31894946
37SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29499087
38TP63_23658742_ChIP-Seq_EP156T_Human1.29115298
39AR_21572438_ChIP-Seq_LNCaP_Human1.28452336
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28340181
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26729875
42CBP_20019798_ChIP-Seq_JUKART_Human1.26729875
43PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.26591562
44TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.25521614
45EP300_21415370_ChIP-Seq_HL-1_Mouse1.21781886
46VDR_24787735_ChIP-Seq_THP-1_Human1.21460916
47PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.20463005
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18137662
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.17086797
50GATA3_24758297_ChIP-Seq_MCF-7_Human1.14399830
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.13809188
52SMAD3_21741376_ChIP-Seq_HESCs_Human1.13771435
53NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12131528
54SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.11917497
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10125626
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10125626
57SCL_19346495_ChIP-Seq_HPC-7_Human1.09883901
58EWS_26573619_Chip-Seq_HEK293_Human1.08438556
59NANOG_19829295_ChIP-Seq_ESCs_Human1.08112862
60SOX2_19829295_ChIP-Seq_ESCs_Human1.08112862
61GBX2_23144817_ChIP-Seq_PC3_Human1.06420526
62NRF2_20460467_ChIP-Seq_MEFs_Mouse1.05194388
63NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.05194388
64FUS_26573619_Chip-Seq_HEK293_Human1.05085660
65TP53_16413492_ChIP-PET_HCT116_Human1.03221960
66JUN_21703547_ChIP-Seq_K562_Human1.01714495
67SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00423859
68JARID2_20064375_ChIP-Seq_MESCs_Mouse0.99032947
69HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97081441
70SOX2_20726797_ChIP-Seq_SW620_Human0.96675838
71GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.95480392
72KLF4_19829295_ChIP-Seq_ESCs_Human0.95178361
73MTF2_20144788_ChIP-Seq_MESCs_Mouse0.95151875
74ISL1_27105846_Chip-Seq_CPCs_Mouse0.94779236
75RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.94446122
76JARID2_20075857_ChIP-Seq_MESCs_Mouse0.94010988
77UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93964728
78DROSHA_22980978_ChIP-Seq_HELA_Human0.93671634
79TCF4_23295773_ChIP-Seq_U87_Human0.92951172
80ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90763461
81CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90585032
82AR_19668381_ChIP-Seq_PC3_Human0.89803560
83SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.89418287
84SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.89418287
85FOXA1_27270436_Chip-Seq_PROSTATE_Human0.89027096
86FOXA1_25329375_ChIP-Seq_VCAP_Human0.89027096
87GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.88931859
88* RUNX2_22187159_ChIP-Seq_PCA_Human0.88490859
89SOX9_24532713_ChIP-Seq_HFSC_Mouse0.88477511
90OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88095242
91CDX2_22108803_ChIP-Seq_LS180_Human0.87933930
92TP63_22573176_ChIP-Seq_HFKS_Human0.87479924
93SMAD4_21799915_ChIP-Seq_A2780_Human0.87198540
94TOP2B_26459242_ChIP-Seq_MCF-7_Human0.86882209
95AR_25329375_ChIP-Seq_VCAP_Human0.86497093
96RNF2_27304074_Chip-Seq_ESCs_Mouse0.86296116
97SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.86008544
98GATA1_19941826_ChIP-Seq_K562_Human0.85422449
99ERG_20517297_ChIP-Seq_VCAP_Human0.85109219
100TAF15_26573619_Chip-Seq_HEK293_Human0.84547643

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology6.38090660
2MP0005379_endocrine/exocrine_gland_phen5.03730524
3MP0006276_abnormal_autonomic_nervous4.51662728
4MP0010368_abnormal_lymphatic_system3.72766751
5MP0005647_abnormal_sex_gland3.59953197
6MP0001919_abnormal_reproductive_system3.33002099
7MP0000013_abnormal_adipose_tissue2.97325096
8MP0003941_abnormal_skin_development2.89867272
9MP0003959_abnormal_lean_body2.89822869
10MP0001440_abnormal_grooming_behavior2.49194127
11MP0006054_spinal_hemorrhage2.44698341
12MP0003950_abnormal_plasma_membrane2.40730231
13MP0000003_abnormal_adipose_tissue2.40226168
14MP0002876_abnormal_thyroid_physiology2.21335490
15MP0002653_abnormal_ependyma_morphology2.15015450
16MP0009697_abnormal_copulation11.1646802
17MP0004019_abnormal_vitamin_homeostasis1.99661195
18MP0005389_reproductive_system_phenotype1.97123561
19MP0009115_abnormal_fat_cell1.72992532
20MP0000639_abnormal_adrenal_gland1.62476252
21MP0002971_abnormal_brown_adipose1.58349433
22MP0006138_congestive_heart_failure1.53071718
23MP0003936_abnormal_reproductive_system1.52309939
24MP0001666_abnormal_nutrient_absorption1.45405540
25MP0000647_abnormal_sebaceous_gland1.40860448
26MP0005023_abnormal_wound_healing1.39790572
27MP0001879_abnormal_lymphatic_vessel1.37384313
28MP0002998_abnormal_bone_remodeling1.31430586
29MP0010329_abnormal_lipoprotein_level1.31075972
30MP0000613_abnormal_salivary_gland1.29419329
31MP0001501_abnormal_sleep_pattern1.24996068
32MP0005375_adipose_tissue_phenotype1.18476338
33MP0009703_decreased_birth_body1.18047089
34MP0002075_abnormal_coat/hair_pigmentati1.16903882
35MP0001756_abnormal_urination1.15338651
36MP0010386_abnormal_urinary_bladder1.13378981
37MP0004272_abnormal_basement_membrane1.10241147
38MP0000230_abnormal_systemic_arterial1.08332327
39MP0008438_abnormal_cutaneous_collagen1.08154262
40MP0004947_skin_inflammation1.05031317
41MP0005503_abnormal_tendon_morphology1.02825982
42MP0009780_abnormal_chondrocyte_physiolo0.95901547
43MP0004085_abnormal_heartbeat0.94000413
44MP0000685_abnormal_immune_system0.90282414
45MP0003566_abnormal_cell_adhesion0.90069836
46MP0003453_abnormal_keratinocyte_physiol0.89442985
47MP0002909_abnormal_adrenal_gland0.87516715
48MP0005334_abnormal_fat_pad0.86921551
49MP0002557_abnormal_social/conspecific_i0.85812165
50MP0005275_abnormal_skin_tensile0.83238186
51MP0003136_yellow_coat_color0.82779476
52MP0000383_abnormal_hair_follicle0.77420581
53MP0001765_abnormal_ion_homeostasis0.76352301
54MP0002128_abnormal_blood_circulation0.76227939
55MP0003705_abnormal_hypodermis_morpholog0.75220647
56MP0001186_pigmentation_phenotype0.72623102
57MP0003191_abnormal_cellular_cholesterol0.72166096
58MP0001958_emphysema0.69163988
59MP0003795_abnormal_bone_structure0.66118600
60MP0002972_abnormal_cardiac_muscle0.64767153
61MP0004381_abnormal_hair_follicle0.63652512
62MP0000681_abnormal_thyroid_gland0.62736846
63MP0001915_intracranial_hemorrhage0.62560979
64MP0002295_abnormal_pulmonary_circulatio0.60574772
65MP0005452_abnormal_adipose_tissue0.59028772
66MP0004185_abnormal_adipocyte_glucose0.57917698
67MP0000367_abnormal_coat/_hair0.55759011
68MP0003091_abnormal_cell_migration0.55453485
69MP0000427_abnormal_hair_cycle0.55210589
70MP0003183_abnormal_peptide_metabolism0.54063641
71MP0004782_abnormal_surfactant_physiolog0.53152778
72MP0003828_pulmonary_edema0.52207041
73MP0009384_cardiac_valve_regurgitation0.50807425
74MP0005164_abnormal_response_to0.50645460
75MP0010678_abnormal_skin_adnexa0.50364191
76MP0002086_abnormal_extraembryonic_tissu0.50204123
77MP0001340_abnormal_eyelid_morphology0.49339778
78MP0003385_abnormal_body_wall0.45686128
79MP0001119_abnormal_female_reproductive0.44137343
80MP0005171_absent_coat_pigmentation0.43259601
81MP0005319_abnormal_enzyme/_coenzyme0.43250392
82MP0010352_gastrointestinal_tract_polyps0.43187665
83MP0001881_abnormal_mammary_gland0.43172779
84MP0000767_abnormal_smooth_muscle0.42552650
85MP0003252_abnormal_bile_duct0.40902899
86MP0003953_abnormal_hormone_level0.40505263
87MP0003011_delayed_dark_adaptation0.39694229
88MP0005595_abnormal_vascular_smooth0.39136365
89MP0005385_cardiovascular_system_phenoty0.38006908
90MP0001544_abnormal_cardiovascular_syste0.38006908
91MP0005187_abnormal_penis_morphology0.37997398
92MP0003567_abnormal_fetal_cardiomyocyte0.37971845
93MP0000266_abnormal_heart_morphology0.37279298
94MP0002108_abnormal_muscle_morphology0.36743994
95MP0002210_abnormal_sex_determination0.36659771
96MP0000569_abnormal_digit_pigmentation0.36189155
97MP0003699_abnormal_female_reproductive0.35894711
98MP0000759_abnormal_skeletal_muscle0.35616013
99MP0005409_darkened_coat_color0.32767095
100MP0008875_abnormal_xenobiotic_pharmacok0.31924877

Predicted human phenotypes

RankGene SetZ-score
1Capillary hemangiomas (HP:0005306)8.55046267
2Decreased number of large peripheral myelinated nerve fibers (HP:0003387)8.04297125
3Hypergonadotropic hypogonadism (HP:0000815)7.70074443
4Upper limb muscle weakness (HP:0003484)7.63683165
5Abnormal pupillary function (HP:0007686)6.38182415
6Nonimmune hydrops fetalis (HP:0001790)6.24121433
7Abnormal auditory evoked potentials (HP:0006958)6.12199692
8Muscle fibrillation (HP:0010546)5.87375844
9Tongue fasciculations (HP:0001308)5.69082083
10Accelerated skeletal maturation (HP:0005616)5.32246735
11Female pseudohermaphroditism (HP:0010458)4.75911498
12Back pain (HP:0003418)4.16349590
13Anosmia (HP:0000458)4.16050979
14Abnormality of the ischium (HP:0003174)4.10602865
15Wormian bones (HP:0002645)3.45659600
16Gynecomastia (HP:0000771)3.34188563
17Hypogonadotrophic hypogonadism (HP:0000044)3.25632761
18Delayed gross motor development (HP:0002194)3.23794027
19Congenital ichthyosiform erythroderma (HP:0007431)3.11746735
20Bilateral microphthalmos (HP:0007633)3.09352323
21Onion bulb formation (HP:0003383)3.03108341
22Aortic aneurysm (HP:0004942)3.01955631
23Venous insufficiency (HP:0005293)2.88121585
24Lower limb asymmetry (HP:0100559)2.86185647
25Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.83154052
26Long eyelashes (HP:0000527)2.81095149
27Pseudobulbar signs (HP:0002200)2.80868369
28Basal cell carcinoma (HP:0002671)2.80037719
29Difficulty walking (HP:0002355)2.76181550
30Genu valgum (HP:0002857)2.74910659
31Abnormality of liposaccharide metabolism (HP:0010968)2.73504669
32Abnormality of glycosphingolipid metabolism (HP:0004343)2.73504669
33Abnormality of glycolipid metabolism (HP:0010969)2.73504669
34Bilateral sensorineural hearing impairment (HP:0008619)2.72422498
35Primary amenorrhea (HP:0000786)2.69881999
36Long palpebral fissure (HP:0000637)2.66097274
37Areflexia of lower limbs (HP:0002522)2.64886566
38Flat cornea (HP:0007720)2.53595644
39Fragile skin (HP:0001030)2.52731661
40Aplasia of the musculature (HP:0100854)2.44495346
41Cardiovascular calcification (HP:0011915)2.41721205
42Abnormality of the aortic arch (HP:0012303)2.38156155
43Venous abnormality (HP:0002624)2.35501351
44Breast hypoplasia (HP:0003187)2.34985402
45Morphological abnormality of the middle ear (HP:0008609)2.30630029
46Testicular neoplasm (HP:0010788)2.30349310
47Aplasia/Hypoplasia of the tibia (HP:0005772)2.29690146
48Decreased motor nerve conduction velocity (HP:0003431)2.29265002
49Abnormal pancreas size (HP:0012094)2.24361151
50Disproportionate tall stature (HP:0001519)2.21231767
51Blue sclerae (HP:0000592)2.13222323
52Hypoplastic nipples (HP:0002557)2.12967306
53Peripheral demyelination (HP:0011096)2.10915535
54Decreased circulating renin level (HP:0003351)2.10638026
55Anophthalmia (HP:0000528)2.10238645
56Hypohidrosis (HP:0000966)2.08593246
57Osteolytic defects of the phalanges of the hand (HP:0009771)2.05728606
58Osteolytic defects of the hand bones (HP:0009699)2.05728606
59Spontaneous hematomas (HP:0007420)2.05539159
60Hyporeflexia of lower limbs (HP:0002600)2.02743583
61Bicornuate uterus (HP:0000813)2.01570618
62Abnormality of the pupil (HP:0000615)2.01498896
63Hypoplasia of the iris (HP:0007676)2.00502005
64Abnormality of incisor morphology (HP:0011063)1.99286483
65Polycythemia (HP:0001901)1.98529073
66Long nose (HP:0003189)1.98019395
67Abnormal sex determination (HP:0012244)1.97591884
68Sex reversal (HP:0012245)1.97591884
69Short tibia (HP:0005736)1.95185870
70Hyperaldosteronism (HP:0000859)1.92844719
71Knee flexion contracture (HP:0006380)1.87847271
72Mutism (HP:0002300)1.85337622
73Aortic dissection (HP:0002647)1.84545298
74Distal lower limb muscle weakness (HP:0009053)1.80530877
75Tarsal synostosis (HP:0008368)1.76621064
76Sparse lateral eyebrow (HP:0005338)1.74566460
77Hematochezia (HP:0002573)1.69915569
78Protrusio acetabuli (HP:0003179)1.69249519
79Vascular calcification (HP:0004934)1.68413881
80Hydroxyprolinuria (HP:0003080)1.67125166
81Abnormality of proline metabolism (HP:0010907)1.67125166
82Inability to walk (HP:0002540)1.66362699
83Arteriovenous malformation (HP:0100026)1.64673510
84Elbow flexion contracture (HP:0002987)1.63762123
85Broad metatarsal (HP:0001783)1.62914273
86Mitral stenosis (HP:0001718)1.61913485
87Short clavicles (HP:0000894)1.61213336
88Overgrowth (HP:0001548)1.61014354
89Follicular hyperkeratosis (HP:0007502)1.60341175
90Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.59882595
91Ulnar deviation of finger (HP:0009465)1.59617377
92Tubular atrophy (HP:0000092)1.59436237
93Wide intermamillary distance (HP:0006610)1.57853826
94Deep philtrum (HP:0002002)1.56401141
95Partial agenesis of the corpus callosum (HP:0001338)1.55755464
96Aplasia/Hypoplasia of the clavicles (HP:0006710)1.55151337
97Protruding ear (HP:0000411)1.53442552
98Severe short stature (HP:0003510)1.53059317
99Abnormal autonomic nervous system physiology (HP:0012332)1.52732347
100Synostosis involving bones of the lower limbs (HP:0009138)1.51915527

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KDR9.13681660
2AKT36.11911625
3PDGFRA5.90992775
4DAPK24.33970876
5PDGFRB2.45493637
6NEK92.41096957
7FRK2.37482108
8BLK2.33690084
9ICK2.08690776
10PKN11.99543668
11NME11.78420507
12MYLK1.74958517
13MST41.64227661
14TIE11.54170442
15DAPK11.45594664
16TRPM71.40278784
17MAP3K71.29992950
18MAPK131.20719307
19ERBB41.18671884
20MET1.16437130
21DAPK31.15875390
22LATS11.07018286
23EPHA21.01374851
24INSR1.00472123
25PIK3CG0.99946260
26ADRBK20.96980381
27PDPK10.93871298
28RPS6KA20.92229641
29SRC0.89964410
30STK380.88547746
31RIPK10.83854594
32ADRBK10.78088253
33PTK2B0.76006411
34PRKD20.75457191
35RPS6KA60.75447412
36MAP2K10.74743065
37MAP3K120.73633441
38INSRR0.72344157
39TGFBR20.67972763
40EGFR0.66266085
41PAK20.63282166
42RPS6KC10.61880974
43RPS6KL10.61880974
44MAPKAPK50.58767333
45MARK20.56523121
46CDC42BPA0.56240740
47PRKCZ0.52634631
48PRKCE0.51425094
49MAPK40.49309171
50PRKCQ0.49164702
51TYK20.48844741
52AKT20.46102280
53MAP3K90.45305948
54MST1R0.45168680
55MAPKAPK30.44524602
56STK100.43762355
57MAP4K20.43388340
58PRKAA20.43328393
59PRKD10.43073366
60PTK20.42280167
61ACVR1B0.42198286
62ERBB30.41979173
63MELK0.41476212
64PDK10.41195143
65PRKG20.40908033
66YES10.40080365
67ROCK10.39189046
68GRK10.37589385
69MAPK110.36397275
70PTK60.36073105
71JAK20.35406706
72PIK3CA0.34523846
73PRKCA0.33825287
74MTOR0.33197952
75KIT0.32303196
76CAMK2G0.31723155
77DDR20.30441388
78HCK0.29060362
79STK30.29021785
80PRKCG0.28726346
81FER0.28656782
82PINK10.28060627
83AURKB0.27600007
84EPHB20.25955039
85STK38L0.25046922
86PRKAA10.24709177
87CAMK40.24665135
88SGK10.23201002
89MUSK0.20705320
90GRK50.20506621
91PRKCB0.20342794
92MAPK10.19597817
93STK240.19437465
94LCK0.18367447
95TEC0.15825955
96LYN0.15580543
97MAPK30.15094103
98BMPR1B0.14203574
99ABL20.13846187
100BMX0.13778088

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049138.54794536
2Steroid hormone biosynthesis_Homo sapiens_hsa001407.22487564
3Jak-STAT signaling pathway_Homo sapiens_hsa046303.54368445
4Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.55981165
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.20753715
6Sphingolipid metabolism_Homo sapiens_hsa006002.15689791
7Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89431722
8PI3K-Akt signaling pathway_Homo sapiens_hsa041511.85094566
9Linoleic acid metabolism_Homo sapiens_hsa005911.78663181
10N-Glycan biosynthesis_Homo sapiens_hsa005101.62058441
11Folate biosynthesis_Homo sapiens_hsa007901.56715705
12Renin-angiotensin system_Homo sapiens_hsa046141.56189275
13Mineral absorption_Homo sapiens_hsa049781.55991068
14ECM-receptor interaction_Homo sapiens_hsa045121.46692964
15Inositol phosphate metabolism_Homo sapiens_hsa005621.32807936
16Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.24623332
17Ether lipid metabolism_Homo sapiens_hsa005651.23936305
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.23833118
19Salivary secretion_Homo sapiens_hsa049701.22752268
20Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.21662491
21Histidine metabolism_Homo sapiens_hsa003401.20969973
22Ras signaling pathway_Homo sapiens_hsa040141.18721303
23Focal adhesion_Homo sapiens_hsa045101.11422030
24Axon guidance_Homo sapiens_hsa043601.09334061
25Dorso-ventral axis formation_Homo sapiens_hsa043201.03146280
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.01921590
27Tryptophan metabolism_Homo sapiens_hsa003801.01651845
28Nicotine addiction_Homo sapiens_hsa050330.99785367
29Glycosaminoglycan degradation_Homo sapiens_hsa005310.90224189
30Phosphatidylinositol signaling system_Homo sapiens_hsa040700.89046769
31Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.84085526
32Prolactin signaling pathway_Homo sapiens_hsa049170.82926877
33Vitamin digestion and absorption_Homo sapiens_hsa049770.73749723
34Vascular smooth muscle contraction_Homo sapiens_hsa042700.72376875
35Platelet activation_Homo sapiens_hsa046110.71006679
36Sphingolipid signaling pathway_Homo sapiens_hsa040710.70345422
37Rap1 signaling pathway_Homo sapiens_hsa040150.69951866
38Arachidonic acid metabolism_Homo sapiens_hsa005900.67554852
39Malaria_Homo sapiens_hsa051440.67413056
40ABC transporters_Homo sapiens_hsa020100.64070610
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.61165997
42Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58270136
43Fatty acid biosynthesis_Homo sapiens_hsa000610.57041638
44Renal cell carcinoma_Homo sapiens_hsa052110.57010253
45Phospholipase D signaling pathway_Homo sapiens_hsa040720.53111851
46TGF-beta signaling pathway_Homo sapiens_hsa043500.53061918
47AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.52746069
48GnRH signaling pathway_Homo sapiens_hsa049120.52608465
49Fat digestion and absorption_Homo sapiens_hsa049750.48615665
50Endocytosis_Homo sapiens_hsa041440.47717939
51Tight junction_Homo sapiens_hsa045300.47310013
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47218018
53Proteoglycans in cancer_Homo sapiens_hsa052050.46009569
54Glycerophospholipid metabolism_Homo sapiens_hsa005640.45704766
55Thyroid hormone synthesis_Homo sapiens_hsa049180.45652032
56Bladder cancer_Homo sapiens_hsa052190.44267063
57Small cell lung cancer_Homo sapiens_hsa052220.44206941
58Complement and coagulation cascades_Homo sapiens_hsa046100.43855546
59Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41282834
60Lysosome_Homo sapiens_hsa041420.40986038
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40855689
62Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.40677030
63Pathways in cancer_Homo sapiens_hsa052000.38303788
64Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37011030
65Phototransduction_Homo sapiens_hsa047440.36593401
66Amoebiasis_Homo sapiens_hsa051460.35997727
67Hippo signaling pathway_Homo sapiens_hsa043900.35844148
68Choline metabolism in cancer_Homo sapiens_hsa052310.35083409
69Gastric acid secretion_Homo sapiens_hsa049710.34395298
70Cholinergic synapse_Homo sapiens_hsa047250.34206908
71Nitrogen metabolism_Homo sapiens_hsa009100.34121339
72MAPK signaling pathway_Homo sapiens_hsa040100.32813320
73ErbB signaling pathway_Homo sapiens_hsa040120.32452287
74Long-term depression_Homo sapiens_hsa047300.32449019
75Circadian rhythm_Homo sapiens_hsa047100.30306118
76Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.30150465
77Adherens junction_Homo sapiens_hsa045200.26856171
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26854466
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.26791281
80Morphine addiction_Homo sapiens_hsa050320.26740971
81Serotonergic synapse_Homo sapiens_hsa047260.26177965
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.25795136
83FoxO signaling pathway_Homo sapiens_hsa040680.25359956
84Melanoma_Homo sapiens_hsa052180.25190610
85Insulin resistance_Homo sapiens_hsa049310.25178951
86Calcium signaling pathway_Homo sapiens_hsa040200.24542832
87Cocaine addiction_Homo sapiens_hsa050300.24106527
88Protein digestion and absorption_Homo sapiens_hsa049740.23327396
89HIF-1 signaling pathway_Homo sapiens_hsa040660.23038503
90Metabolic pathways_Homo sapiens_hsa011000.22952530
91Transcriptional misregulation in cancer_Homo sapiens_hsa052020.22017877
92Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.21917948
93Olfactory transduction_Homo sapiens_hsa047400.21708431
94Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.21333862
95GABAergic synapse_Homo sapiens_hsa047270.21253514
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.20489007
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.18953792
98African trypanosomiasis_Homo sapiens_hsa051430.18310089
99Type II diabetes mellitus_Homo sapiens_hsa049300.18262893
100Leukocyte transendothelial migration_Homo sapiens_hsa046700.18239683

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