PSG9

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 member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* multi-multicellular organism process (GO:0044706)9.54811586
2androgen metabolic process (GO:0008209)9.51723057
3positive regulation of growth hormone secretion (GO:0060124)9.00504044
4* multi-organism reproductive process (GO:0044703)8.32344396
5glucocorticoid metabolic process (GO:0008211)7.71834010
6hormone biosynthetic process (GO:0042446)6.95991761
7regulation of growth hormone secretion (GO:0060123)6.56786119
8vitamin transmembrane transport (GO:0035461)6.26292395
9myoblast fusion (GO:0007520)6.25426647
10positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-6.16625309
11response to gonadotropin (GO:0034698)6.14509657
12JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)6.09916647
13collecting duct development (GO:0072044)5.98545474
14syncytium formation (GO:0006949)5.77867887
15syncytium formation by plasma membrane fusion (GO:0000768)5.56175561
16endocrine hormone secretion (GO:0060986)5.19358242
17positive regulation of protein kinase C signaling (GO:0090037)5.15884117
18negative regulation of activin receptor signaling pathway (GO:0032926)5.06078197
19vascular endothelial growth factor signaling pathway (GO:0038084)4.94616057
20lymphangiogenesis (GO:0001946)4.94340316
21sphingoid metabolic process (GO:0046519)4.92432554
22cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.26825053
23bone morphogenesis (GO:0060349)4.25359888
24lymph vessel development (GO:0001945)4.18459585
25estrogen biosynthetic process (GO:0006703)31.0389572
26parturition (GO:0007567)3.89418090
27myelin maintenance (GO:0043217)3.81996647
28T-helper 1 type immune response (GO:0042088)3.73660705
29positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.70227298
30regulation of interferon-gamma biosynthetic process (GO:0045072)3.66986776
31vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.60702699
32sequestering of extracellular ligand from receptor (GO:0035581)3.55726559
33protein neddylation (GO:0045116)3.53970903
34sprouting angiogenesis (GO:0002040)3.51940190
35cellular hormone metabolic process (GO:0034754)3.33240394
36iron ion import (GO:0097286)3.32128632
37interkinetic nuclear migration (GO:0022027)3.24976657
38eyelid development in camera-type eye (GO:0061029)3.24252503
39regulation of endocrine process (GO:0044060)3.22900643
40L-alpha-amino acid transmembrane transport (GO:1902475)3.21424503
41regulation of G0 to G1 transition (GO:0070316)3.20541763
42JAK-STAT cascade (GO:0007259)3.15649783
43positive regulation of insulin receptor signaling pathway (GO:0046628)3.07999748
44basement membrane organization (GO:0071711)3.07918279
45keratinocyte development (GO:0003334)3.05450290
46negative regulation of smooth muscle cell differentiation (GO:0051151)2.95654323
47mitotic cytokinesis (GO:0000281)2.94265454
48polarized epithelial cell differentiation (GO:0030859)2.81731860
49negative regulation of cell-matrix adhesion (GO:0001953)2.79936695
50antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.76391559
51progesterone metabolic process (GO:0042448)2.74678156
52cytoskeleton-dependent cytokinesis (GO:0061640)2.74209380
53sphingosine metabolic process (GO:0006670)2.66675157
54steroid biosynthetic process (GO:0006694)2.64999703
55ear development (GO:0043583)2.62150735
56C21-steroid hormone biosynthetic process (GO:0006700)2.61959177
57regulation of protein kinase C signaling (GO:0090036)2.40604315
58regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.39384673
59cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.39154566
60transcytosis (GO:0045056)2.33099868
61diol metabolic process (GO:0034311)2.31530377
62hormone metabolic process (GO:0042445)2.25350230
63regulation of ruffle assembly (GO:1900027)2.24440058
64blood vessel morphogenesis (GO:0048514)2.22443640
65positive regulation of cellular response to insulin stimulus (GO:1900078)2.20590431
66insulin-like growth factor receptor signaling pathway (GO:0048009)2.18381604
67extracellular regulation of signal transduction (GO:1900115)2.15929347
68extracellular negative regulation of signal transduction (GO:1900116)2.15929347
69ketone biosynthetic process (GO:0042181)2.14321886
70positive regulation of cartilage development (GO:0061036)2.11414048
71import into cell (GO:0098657)2.10957641
72negative regulation of myoblast differentiation (GO:0045662)2.10828325
73regulation of hippo signaling (GO:0035330)2.10819501
74Leydig cell differentiation (GO:0033327)2.10434827
75protein targeting to Golgi (GO:0000042)2.08627598
76lung vasculature development (GO:0060426)2.07814647
77positive regulation of alpha-beta T cell proliferation (GO:0046641)2.07776020
78adherens junction assembly (GO:0034333)2.07329878
79regulation of activin receptor signaling pathway (GO:0032925)2.06541472
80female genitalia development (GO:0030540)2.06345461
81negative regulation of macrophage differentiation (GO:0045650)2.05324143
82establishment of protein localization to Golgi (GO:0072600)2.04588739
83regulation of integrin-mediated signaling pathway (GO:2001044)2.03873681
84vitamin D metabolic process (GO:0042359)2.02863272
85Sertoli cell development (GO:0060009)2.02259300
86mating behavior (GO:0007617)2.01898215
87wound healing, spreading of epidermal cells (GO:0035313)2.01540401
88bone trabecula formation (GO:0060346)2.00015939
89response to follicle-stimulating hormone (GO:0032354)14.8196728
90regulation of gonadotropin secretion (GO:0032276)13.8867202
91estrogen metabolic process (GO:0008210)13.3749241
92* female pregnancy (GO:0007565)13.2581038
93glucocorticoid biosynthetic process (GO:0006704)13.0368065
94prostate gland growth (GO:0060736)12.5602368
95androgen biosynthetic process (GO:0006702)10.9066898
96regulation of clathrin-mediated endocytosis (GO:2000369)1.99095650
97fibroblast migration (GO:0010761)1.98798756
98retrograde transport, vesicle recycling within Golgi (GO:0000301)1.97284860
99embryonic process involved in female pregnancy (GO:0060136)1.94152560
100apical protein localization (GO:0045176)1.93167560

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EGR1_19032775_ChIP-ChIP_M12_Human3.73206109
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.70965595
3TRIM28_17542650_ChIP-ChIP_NTERA2_Human3.02508882
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.77866948
5AHR_22903824_ChIP-Seq_MCF-7_Human2.72765289
6ESR1_20079471_ChIP-ChIP_T-47D_Human2.69576869
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.63592917
8TP53_18474530_ChIP-ChIP_U2OS_Human2.45068804
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.43826273
10* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.41507191
11PPAR_26484153_Chip-Seq_NCI-H1993_Human2.37960629
12ZNF217_24962896_ChIP-Seq_MCF-7_Human2.29392399
13BRD4_25478319_ChIP-Seq_HGPS_Human2.20152670
14ARNT_22903824_ChIP-Seq_MCF-7_Human2.18840757
15CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.16622994
16ZNF263_19887448_ChIP-Seq_K562_Human2.08070621
17P63_26484246_Chip-Seq_KERATINOCYTES_Human2.06570508
18* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.02505792
19ESR2_21235772_ChIP-Seq_MCF-7_Human2.01691601
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human12.9756435
21TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.98915487
22ESR1_21235772_ChIP-Seq_MCF-7_Human1.83163141
23FOXO3_23340844_ChIP-Seq_DLD1_Human1.74117645
24ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.59964528
25TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.52063453
26VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.49001103
27CJUN_26792858_Chip-Seq_BT549_Human1.44567997
28NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.40375323
29GATA3_24758297_ChIP-Seq_MCF-7_Human1.37239040
30RNF2_18974828_ChIP-Seq_MESCs_Mouse1.36745961
31EZH2_18974828_ChIP-Seq_MESCs_Mouse1.36745961
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34897871
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34438413
34PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.31688762
35NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.31481347
36SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.30654038
37PIAS1_25552417_ChIP-Seq_VCAP_Human1.27941320
38EP300_21415370_ChIP-Seq_HL-1_Mouse1.27676103
39HIF1A_21447827_ChIP-Seq_MCF-7_Human1.26858852
40SCL_19346495_ChIP-Seq_HPC-7_Human1.25134524
41* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.24968460
42TP63_23658742_ChIP-Seq_EP156T_Human1.24497373
43AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21292480
44RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20223987
45TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19560799
46ER_23166858_ChIP-Seq_MCF-7_Human1.18145750
47SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.17086020
48SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.17086020
49SOX2_20726797_ChIP-Seq_SW620_Human1.16414160
50RXR_22108803_ChIP-Seq_LS180_Human1.15727903
51CTCF_27219007_Chip-Seq_ERYTHROID_Human1.13556440
52JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10884786
53CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04910577
54TBX3_20139965_ChIP-Seq_ESCs_Mouse1.04638807
55TBX3_20139965_ChIP-Seq_MESCs_Mouse1.04574126
56VDR_24787735_ChIP-Seq_THP-1_Human1.04569203
57AR_21572438_ChIP-Seq_LNCaP_Human1.04387966
58CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03091498
59SMAD3_21741376_ChIP-Seq_HESCs_Human1.02406454
60UBF1/2_26484160_Chip-Seq_HMECs_Human1.01563086
61SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99388919
62NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.99012589
63NRF2_20460467_ChIP-Seq_MEFs_Mouse0.99012589
64ISL1_27105846_Chip-Seq_CPCs_Mouse0.97854611
65CBP_20019798_ChIP-Seq_JUKART_Human0.95341017
66IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95341017
67ESR1_15608294_ChIP-ChIP_MCF-7_Human0.95005673
68FOXA2_19822575_ChIP-Seq_HepG2_Human0.94508517
69SOX9_24532713_ChIP-Seq_HFSC_Mouse0.94289520
70SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.91692585
71P300_19829295_ChIP-Seq_ESCs_Human0.89111644
72JUN_21703547_ChIP-Seq_K562_Human0.88173801
73EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.88078672
74ERG_20517297_ChIP-Seq_VCAP_Human0.87229970
75FUS_26573619_Chip-Seq_HEK293_Human0.87180341
76ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.87023056
77GATA1_19941826_ChIP-Seq_K562_Human0.85658549
78POU5F1_16518401_ChIP-PET_MESCs_Mouse0.84467502
79SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.83666191
80RUNX2_22187159_ChIP-Seq_PCA_Human0.83330202
81JARID2_20064375_ChIP-Seq_MESCs_Mouse0.83209915
82SA1_22415368_ChIP-Seq_MEFs_Mouse0.83096563
83GATA4_25053715_ChIP-Seq_YYC3_Human0.82589554
84GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.82371338
85WT1_19549856_ChIP-ChIP_CCG9911_Human0.81700388
86TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81182517
87* KLF4_19829295_ChIP-Seq_ESCs_Human0.79794830
88POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.79510736
89TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79510736
90FOXM1_26456572_ChIP-Seq_MCF-7_Human0.78873246
91NANOG_19829295_ChIP-Seq_ESCs_Human0.78605879
92SOX2_19829295_ChIP-Seq_ESCs_Human0.78605879
93EGR1_19374776_ChIP-ChIP_THP-1_Human0.78177332
94SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.77851492
95RNF2_27304074_Chip-Seq_ESCs_Mouse0.77683152
96AR_19668381_ChIP-Seq_PC3_Human0.77467741
97JARID2_20075857_ChIP-Seq_MESCs_Mouse0.76350014
98OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.75989058
99EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.75923166
100FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.75811192

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology6.82847510
2MP0005379_endocrine/exocrine_gland_phen5.31777417
3MP0006276_abnormal_autonomic_nervous4.54358072
4MP0010368_abnormal_lymphatic_system3.90305727
5MP0005647_abnormal_sex_gland3.67614333
6MP0001919_abnormal_reproductive_system3.43319042
7MP0000013_abnormal_adipose_tissue3.18651344
8MP0003941_abnormal_skin_development2.86059540
9MP0000003_abnormal_adipose_tissue2.51402578
10MP0003959_abnormal_lean_body2.47662818
11MP0001440_abnormal_grooming_behavior2.34503653
12MP0006054_spinal_hemorrhage2.34044459
13MP0004019_abnormal_vitamin_homeostasis2.16840457
14MP0009697_abnormal_copulation11.3812400
15MP0005389_reproductive_system_phenotype1.98394997
16MP0002876_abnormal_thyroid_physiology1.79329174
17MP0009115_abnormal_fat_cell1.73443803
18MP0001666_abnormal_nutrient_absorption1.68456483
19MP0006138_congestive_heart_failure1.67009795
20MP0003950_abnormal_plasma_membrane1.63349933
21MP0000613_abnormal_salivary_gland1.61893131
22MP0003936_abnormal_reproductive_system1.60642742
23MP0000639_abnormal_adrenal_gland1.50372080
24MP0002971_abnormal_brown_adipose1.49427757
25MP0000647_abnormal_sebaceous_gland1.43589195
26MP0005023_abnormal_wound_healing1.43273365
27MP0001879_abnormal_lymphatic_vessel1.39667166
28MP0002998_abnormal_bone_remodeling1.38411540
29MP0003566_abnormal_cell_adhesion1.34469361
30MP0002653_abnormal_ependyma_morphology1.34379165
31MP0005375_adipose_tissue_phenotype1.31679046
32MP0009703_decreased_birth_body1.30336751
33MP0003453_abnormal_keratinocyte_physiol1.28063046
34MP0003705_abnormal_hypodermis_morpholog1.26370602
35MP0002075_abnormal_coat/hair_pigmentati1.23732513
36MP0010352_gastrointestinal_tract_polyps1.17635693
37MP0010329_abnormal_lipoprotein_level1.15395054
38MP0001756_abnormal_urination1.12296993
39MP0002909_abnormal_adrenal_gland1.06968092
40MP0004272_abnormal_basement_membrane1.05439990
41MP0004947_skin_inflammation1.00543871
42MP0004185_abnormal_adipocyte_glucose0.93313968
43MP0001186_pigmentation_phenotype0.87314656
44MP0002128_abnormal_blood_circulation0.83532063
45MP0005334_abnormal_fat_pad0.82538791
46MP0004085_abnormal_heartbeat0.80689857
47MP0008438_abnormal_cutaneous_collagen0.79083476
48MP0000230_abnormal_systemic_arterial0.78574036
49MP0002086_abnormal_extraembryonic_tissu0.75892778
50MP0009780_abnormal_chondrocyte_physiolo0.75818688
51MP0001765_abnormal_ion_homeostasis0.75743056
52MP0001915_intracranial_hemorrhage0.73596758
53MP0005409_darkened_coat_color0.71543549
54MP0003385_abnormal_body_wall0.70568782
55MP0003091_abnormal_cell_migration0.68192999
56MP0003191_abnormal_cellular_cholesterol0.68049839
57MP0001958_emphysema0.67840540
58MP0001340_abnormal_eyelid_morphology0.67290873
59MP0002972_abnormal_cardiac_muscle0.66278645
60MP0003795_abnormal_bone_structure0.64445585
61MP0005076_abnormal_cell_differentiation0.63527154
62MP0000681_abnormal_thyroid_gland0.62659471
63MP0002557_abnormal_social/conspecific_i0.61731080
64MP0005319_abnormal_enzyme/_coenzyme0.52206423
65MP0000759_abnormal_skeletal_muscle0.52000642
66MP0003136_yellow_coat_color0.51376604
67MP0003828_pulmonary_edema0.51055182
68MP0000685_abnormal_immune_system0.50656089
69MP0000367_abnormal_coat/_hair0.50646798
70MP0004782_abnormal_surfactant_physiolog0.50395412
71MP0002295_abnormal_pulmonary_circulatio0.50053628
72MP0000747_muscle_weakness0.47756720
73MP0005452_abnormal_adipose_tissue0.46980518
74MP0000383_abnormal_hair_follicle0.46189997
75MP0003699_abnormal_female_reproductive0.46040393
76MP0003567_abnormal_fetal_cardiomyocyte0.45602725
77MP0005187_abnormal_penis_morphology0.45280933
78MP0001243_abnormal_dermal_layer0.45047019
79MP0005275_abnormal_skin_tensile0.44302500
80MP0000627_abnormal_mammary_gland0.44041284
81MP0000534_abnormal_ureter_morphology0.43259343
82MP0001119_abnormal_female_reproductive0.42745573
83MP0000266_abnormal_heart_morphology0.42559992
84MP0002210_abnormal_sex_determination0.40432807
85MP0010386_abnormal_urinary_bladder0.40200788
86MP0000427_abnormal_hair_cycle0.39187551
87MP0003183_abnormal_peptide_metabolism0.38702116
88MP0005385_cardiovascular_system_phenoty0.37232055
89MP0001544_abnormal_cardiovascular_syste0.37232055
90MP0000598_abnormal_liver_morphology0.37022388
91MP0000767_abnormal_smooth_muscle0.36133804
92MP0009384_cardiac_valve_regurgitation0.34975215
93MP0004145_abnormal_muscle_electrophysio0.34370172
94MP0005636_abnormal_mineral_homeostasis0.33892043
95MP0002269_muscular_atrophy0.33559227
96MP0003953_abnormal_hormone_level0.33408089
97MP0002925_abnormal_cardiovascular_devel0.32739277
98MP0003122_maternal_imprinting0.32689531
99MP0001614_abnormal_blood_vessel0.30989100
100MP0005257_abnormal_intraocular_pressure0.28552088

Predicted human phenotypes

RankGene SetZ-score
1Capillary hemangiomas (HP:0005306)8.94221439
2Hypergonadotropic hypogonadism (HP:0000815)8.15672768
3Decreased number of large peripheral myelinated nerve fibers (HP:0003387)7.95798112
4Upper limb muscle weakness (HP:0003484)7.80135326
5Muscle fibrillation (HP:0010546)6.15668638
6Nonimmune hydrops fetalis (HP:0001790)6.13966603
7Tongue fasciculations (HP:0001308)5.89658221
8Abnormal pupillary function (HP:0007686)5.84396582
9Abnormal auditory evoked potentials (HP:0006958)5.71416021
10Accelerated skeletal maturation (HP:0005616)5.52573856
11Female pseudohermaphroditism (HP:0010458)4.71769693
12Anosmia (HP:0000458)4.59447540
13Back pain (HP:0003418)4.35231186
14Lower limb asymmetry (HP:0100559)3.63150420
15Gynecomastia (HP:0000771)3.62414863
16Abnormality of the ischium (HP:0003174)3.58388058
17Wormian bones (HP:0002645)3.41652276
18Hypogonadotrophic hypogonadism (HP:0000044)3.32727386
19Long palpebral fissure (HP:0000637)3.27087809
20Pseudobulbar signs (HP:0002200)3.17028241
21Basal cell carcinoma (HP:0002671)3.13594746
22Onion bulb formation (HP:0003383)3.09350641
23Long eyelashes (HP:0000527)3.07435739
24Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.98302229
25Bilateral microphthalmos (HP:0007633)2.96916845
26Disproportionate tall stature (HP:0001519)2.92329302
27Genu valgum (HP:0002857)2.87379122
28Congenital ichthyosiform erythroderma (HP:0007431)2.84421764
29Areflexia of lower limbs (HP:0002522)2.83519390
30Primary amenorrhea (HP:0000786)2.83473180
31Testicular neoplasm (HP:0010788)2.79380092
32Cardiovascular calcification (HP:0011915)2.77266082
33Fragile skin (HP:0001030)2.72028006
34Delayed gross motor development (HP:0002194)2.71595663
35Bilateral sensorineural hearing impairment (HP:0008619)2.69295876
36Peripheral demyelination (HP:0011096)2.68227358
37Decreased motor nerve conduction velocity (HP:0003431)2.62121339
38Abnormal pancreas size (HP:0012094)2.58663619
39Distal lower limb muscle weakness (HP:0009053)2.55215743
40Aortic aneurysm (HP:0004942)2.54377740
41Venous insufficiency (HP:0005293)2.54377243
42Abnormality of liposaccharide metabolism (HP:0010968)2.52712665
43Abnormality of glycosphingolipid metabolism (HP:0004343)2.52712665
44Abnormality of glycolipid metabolism (HP:0010969)2.52712665
45Osteolytic defects of the phalanges of the hand (HP:0009771)2.46325421
46Osteolytic defects of the hand bones (HP:0009699)2.46325421
47Difficulty walking (HP:0002355)2.43223194
48Polycythemia (HP:0001901)2.36077498
49Sex reversal (HP:0012245)2.34083941
50Abnormal sex determination (HP:0012244)2.34083941
51Venous abnormality (HP:0002624)2.27059612
52Blue sclerae (HP:0000592)2.20566959
53Flat cornea (HP:0007720)2.15055735
54Hyporeflexia of lower limbs (HP:0002600)2.14346251
55Vascular calcification (HP:0004934)2.13817964
56Bicornuate uterus (HP:0000813)2.12278878
57Sparse lateral eyebrow (HP:0005338)2.09157761
58Hypoplastic nipples (HP:0002557)2.07964823
59Abnormality of the aortic arch (HP:0012303)2.07947443
60Morphological abnormality of the middle ear (HP:0008609)2.06476851
61Aplasia of the musculature (HP:0100854)2.04721718
62Arteriovenous malformation (HP:0100026)2.03008388
63Asymmetric growth (HP:0100555)2.00141035
64Abnormality of the pupil (HP:0000615)1.98098152
65Knee flexion contracture (HP:0006380)1.96467220
66Fasciculations (HP:0002380)1.95067088
67Elbow flexion contracture (HP:0002987)1.94211570
68Aplasia/Hypoplasia of the tibia (HP:0005772)1.91340653
69Hematochezia (HP:0002573)1.90490571
70Short tibia (HP:0005736)1.88499522
71Abnormal autonomic nervous system physiology (HP:0012332)1.87451951
72Ulnar deviation of finger (HP:0009465)1.85093215
73Breast hypoplasia (HP:0003187)1.83992095
74Annular pancreas (HP:0001734)1.82488322
75Distal lower limb amyotrophy (HP:0008944)1.82296571
76Right ventricular cardiomyopathy (HP:0011663)1.81009246
77Hypoplasia of the iris (HP:0007676)1.80939369
78Hyperaldosteronism (HP:0000859)1.79754172
79Protrusio acetabuli (HP:0003179)1.76493149
80Protruding ear (HP:0000411)1.76266724
81Kyphoscoliosis (HP:0002751)1.75037848
82Hypohidrosis (HP:0000966)1.73850112
83Neonatal hypoglycemia (HP:0001998)1.72748234
84Spontaneous hematomas (HP:0007420)1.71760745
85Increased connective tissue (HP:0009025)1.70920223
86Overgrowth (HP:0001548)1.69188364
87Dilatation of the ascending aorta (HP:0005111)1.67422830
88Anophthalmia (HP:0000528)1.66516151
89Deep philtrum (HP:0002002)1.66337747
90Mitral stenosis (HP:0001718)1.66006629
91Cerebral aneurysm (HP:0004944)1.65494056
92Abnormality of the distal phalanx of the thumb (HP:0009617)1.64758193
93Difficulty climbing stairs (HP:0003551)1.62923075
94Hyperpituitarism (HP:0010514)1.62368206
95Hypoplasia of the uterus (HP:0000013)1.61779789
96Hoarse voice (HP:0001609)1.60258416
97Lower limb amyotrophy (HP:0007210)1.60093425
98Mutism (HP:0002300)1.59241439
99Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.58211339
100Arachnodactyly (HP:0001166)1.57677896

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KDR9.69604125
2PDGFRA6.76766425
3AKT35.86897503
4DAPK24.07281497
5ICK2.79101010
6PDGFRB2.70525022
7BLK2.30542893
8MST42.09154975
9ERBB41.85415640
10NEK91.66318390
11DAPK11.66082038
12MET1.50889380
13EPHA21.50017752
14TIE11.45566618
15MYLK1.44425518
16LATS11.39562644
17PKN11.31180478
18RIPK11.22849052
19RPS6KA21.18764678
20DAPK31.14528848
21MST1R1.05366217
22PDPK11.02476498
23INSR1.02436851
24MAP3K70.98446575
25SRC0.97812054
26STK380.94278042
27NME10.91355990
28TRPM70.90232624
29STK100.86201143
30FRK0.85132198
31EGFR0.81772414
32MAP3K120.80317916
33PTK60.79834565
34PTK20.75285993
35TGFBR20.73918268
36PRKD20.68879463
37RPS6KA60.67711776
38RPS6KC10.67287034
39RPS6KL10.67287034
40PTK2B0.66251794
41AKT20.65904899
42INSRR0.61972385
43MTOR0.56882852
44AURKB0.52876856
45MAP2K10.50890018
46PAK20.50427082
47MARK20.49210246
48MELK0.43174351
49JAK20.42677058
50PRKCZ0.42379322
51PDK10.41751282
52PRKD10.40690971
53TYK20.40570548
54YES10.39981255
55MAP3K90.39885712
56CDC42BPA0.39637820
57SMG10.38262867
58TRIB30.35931051
59BMX0.35228591
60ROCK10.32161533
61EPHB20.31492699
62TTN0.31055812
63MAPK130.30836189
64MAPK110.30153609
65CAMK2G0.29767556
66STK30.29124964
67PAK40.29014438
68ERBB30.28722725
69BRD40.28568978
70PRKG20.27443445
71PRKAA20.27054309
72NME20.24282763
73RPS6KB20.24252454
74PRKCE0.23582831
75MAPK40.22710365
76FER0.21778251
77ROCK20.21639835
78PRKCA0.20949320
79LATS20.19530817
80SCYL20.19053982
81DYRK1B0.18545236
82TESK20.18179256
83ADRBK10.18015782
84SGK4940.17204112
85SGK2230.17204112
86MAPK10.16780814
87SGK10.15084485
88PRKCQ0.14016532
89ABL20.13842087
90NTRK10.13789404
91PRKAA10.13496117
92PIK3CA0.12742335
93ILK0.11684996
94TAF10.10185005
95TBK10.10116324
96LCK0.09750307
97SGK30.08695086
98RPS6KA10.07607539
99PRKCI0.07494103
100HCK0.07156683

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049138.88764217
2Steroid hormone biosynthesis_Homo sapiens_hsa001407.70173607
3Jak-STAT signaling pathway_Homo sapiens_hsa046303.94482410
4Folate biosynthesis_Homo sapiens_hsa007902.28474089
5Sphingolipid metabolism_Homo sapiens_hsa006002.24642310
6PI3K-Akt signaling pathway_Homo sapiens_hsa041512.18216580
7Aldosterone synthesis and secretion_Homo sapiens_hsa049252.16013988
8N-Glycan biosynthesis_Homo sapiens_hsa005102.06562743
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.97160541
10Renin-angiotensin system_Homo sapiens_hsa046141.75615500
11Mineral absorption_Homo sapiens_hsa049781.61109460
12Focal adhesion_Homo sapiens_hsa045101.44088394
13ECM-receptor interaction_Homo sapiens_hsa045121.38793323
14Inositol phosphate metabolism_Homo sapiens_hsa005621.34129842
15Axon guidance_Homo sapiens_hsa043601.28905466
16Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.25598403
17Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.13490391
18Salivary secretion_Homo sapiens_hsa049701.09589006
19Prolactin signaling pathway_Homo sapiens_hsa049171.08501307
20Ras signaling pathway_Homo sapiens_hsa040141.07826261
21Vitamin digestion and absorption_Homo sapiens_hsa049771.02339811
22Histidine metabolism_Homo sapiens_hsa003401.01132119
23Renal cell carcinoma_Homo sapiens_hsa052110.99047751
24Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.96960803
25Dorso-ventral axis formation_Homo sapiens_hsa043200.94148299
26Glycosaminoglycan degradation_Homo sapiens_hsa005310.93552737
27Phosphatidylinositol signaling system_Homo sapiens_hsa040700.92254782
28Bladder cancer_Homo sapiens_hsa052190.91867359
29Sphingolipid signaling pathway_Homo sapiens_hsa040710.89958834
30Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.88594706
31Proteoglycans in cancer_Homo sapiens_hsa052050.81440044
32Adherens junction_Homo sapiens_hsa045200.80552978
33Rap1 signaling pathway_Homo sapiens_hsa040150.77994783
34AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.77970552
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.77319186
36Small cell lung cancer_Homo sapiens_hsa052220.77013481
37Tryptophan metabolism_Homo sapiens_hsa003800.75500556
38Tight junction_Homo sapiens_hsa045300.73697770
39Other glycan degradation_Homo sapiens_hsa005110.67924096
40Endocytosis_Homo sapiens_hsa041440.67676548
41Malaria_Homo sapiens_hsa051440.65376624
42Regulation of actin cytoskeleton_Homo sapiens_hsa048100.60345630
43Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59999593
44Thyroid hormone synthesis_Homo sapiens_hsa049180.58881584
45Chronic myeloid leukemia_Homo sapiens_hsa052200.56947974
46Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56181919
47TGF-beta signaling pathway_Homo sapiens_hsa043500.55390456
48Hippo signaling pathway_Homo sapiens_hsa043900.55306632
49Pathways in cancer_Homo sapiens_hsa052000.54880256
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.51817583
51ErbB signaling pathway_Homo sapiens_hsa040120.50578562
52Prostate cancer_Homo sapiens_hsa052150.49777777
53Amoebiasis_Homo sapiens_hsa051460.49391021
54Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.48729058
55Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.48198249
56Insulin resistance_Homo sapiens_hsa049310.47738788
57HIF-1 signaling pathway_Homo sapiens_hsa040660.45289216
58FoxO signaling pathway_Homo sapiens_hsa040680.44859857
59Complement and coagulation cascades_Homo sapiens_hsa046100.44489351
60Lysosome_Homo sapiens_hsa041420.42249134
61Leukocyte transendothelial migration_Homo sapiens_hsa046700.40164739
62MicroRNAs in cancer_Homo sapiens_hsa052060.39607058
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.38910573
64GnRH signaling pathway_Homo sapiens_hsa049120.37478348
65Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.36879108
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.36346139
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35800535
68Platelet activation_Homo sapiens_hsa046110.35722672
69Melanoma_Homo sapiens_hsa052180.34037912
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32840480
71MAPK signaling pathway_Homo sapiens_hsa040100.31340115
72Endometrial cancer_Homo sapiens_hsa052130.30251337
73Glioma_Homo sapiens_hsa052140.29233052
74Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.27825569
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27668663
76Acute myeloid leukemia_Homo sapiens_hsa052210.27367484
77Insulin signaling pathway_Homo sapiens_hsa049100.25983738
78ABC transporters_Homo sapiens_hsa020100.25429681
79Type II diabetes mellitus_Homo sapiens_hsa049300.25249432
80Dilated cardiomyopathy_Homo sapiens_hsa054140.24798524
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.23322793
82Choline metabolism in cancer_Homo sapiens_hsa052310.22858361
83Estrogen signaling pathway_Homo sapiens_hsa049150.22516691
84Adipocytokine signaling pathway_Homo sapiens_hsa049200.21301183
85Non-small cell lung cancer_Homo sapiens_hsa052230.19365564
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.18891383
87Circadian rhythm_Homo sapiens_hsa047100.17747390
88Fatty acid biosynthesis_Homo sapiens_hsa000610.17593479
89Metabolic pathways_Homo sapiens_hsa011000.16285471
90Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.15434544
91Hepatitis C_Homo sapiens_hsa051600.14807644
92Hepatitis B_Homo sapiens_hsa051610.14567874
93Transcriptional misregulation in cancer_Homo sapiens_hsa052020.14418877
94Toxoplasmosis_Homo sapiens_hsa051450.14335179
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.13843318
96AMPK signaling pathway_Homo sapiens_hsa041520.13149738
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.12942450
98Protein digestion and absorption_Homo sapiens_hsa049740.12677306
99Gap junction_Homo sapiens_hsa045400.12355578
100Gastric acid secretion_Homo sapiens_hsa049710.12324829

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