CSH2

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 somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1androgen metabolic process (GO:0008209)9.81621659
2positive regulation of growth hormone secretion (GO:0060124)9.53785290
3multi-organism reproductive process (GO:0044703)9.36813898
4glucocorticoid metabolic process (GO:0008211)8.00481448
5hormone biosynthetic process (GO:0042446)7.25573407
6regulation of growth hormone secretion (GO:0060123)6.78993680
7myoblast fusion (GO:0007520)6.34290105
8JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)6.27958014
9vitamin transmembrane transport (GO:0035461)6.24309902
10collecting duct development (GO:0072044)6.24229465
11response to gonadotropin (GO:0034698)6.13925446
12positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-6.05729666
13syncytium formation (GO:0006949)5.90536622
14syncytium formation by plasma membrane fusion (GO:0000768)5.64201394
15positive regulation of protein kinase C signaling (GO:0090037)5.38139908
16endocrine hormone secretion (GO:0060986)5.18591926
17negative regulation of activin receptor signaling pathway (GO:0032926)5.13341761
18sphingoid metabolic process (GO:0046519)4.81331952
19lymphangiogenesis (GO:0001946)4.80905480
20cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.66634841
21vascular endothelial growth factor signaling pathway (GO:0038084)4.66218604
22bone morphogenesis (GO:0060349)4.33678680
23protein neddylation (GO:0045116)4.17531643
24positive regulation of interferon-gamma biosynthetic process (GO:0045078)4.16578848
25T-helper 1 type immune response (GO:0042088)4.13693170
26regulation of interferon-gamma biosynthetic process (GO:0045072)4.10048336
27lymph vessel development (GO:0001945)4.07215696
28estrogen biosynthetic process (GO:0006703)32.8309898
29myelin maintenance (GO:0043217)3.95386647
30L-alpha-amino acid transmembrane transport (GO:1902475)3.62510138
31interkinetic nuclear migration (GO:0022027)3.42405400
32vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.41660169
33cellular hormone metabolic process (GO:0034754)3.41306398
34parturition (GO:0007567)3.35141703
35regulation of endocrine process (GO:0044060)3.35025277
36negative regulation of smooth muscle cell differentiation (GO:0051151)3.28820840
37JAK-STAT cascade (GO:0007259)3.27378071
38sprouting angiogenesis (GO:0002040)3.27362101
39eyelid development in camera-type eye (GO:0061029)3.14440746
40positive regulation of insulin receptor signaling pathway (GO:0046628)3.11794293
41sequestering of extracellular ligand from receptor (GO:0035581)3.09079218
42regulation of G0 to G1 transition (GO:0070316)3.07948686
43keratinocyte development (GO:0003334)3.05496662
44antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.01833042
45iron ion import (GO:0097286)2.88814533
46steroid biosynthetic process (GO:0006694)2.82743682
47ear development (GO:0043583)2.74916633
48progesterone metabolic process (GO:0042448)2.67057616
49mitotic cytokinesis (GO:0000281)2.64109125
50negative regulation of cell-matrix adhesion (GO:0001953)2.63967740
51basement membrane organization (GO:0071711)2.62779020
52transcytosis (GO:0045056)2.56516602
53polarized epithelial cell differentiation (GO:0030859)2.51663216
54positive regulation of alpha-beta T cell proliferation (GO:0046641)2.51043172
55C21-steroid hormone biosynthetic process (GO:0006700)2.44976680
56regulation of protein kinase C signaling (GO:0090036)2.43144390
57sphingosine metabolic process (GO:0006670)2.38531819
58ketone biosynthetic process (GO:0042181)2.35261522
59cytoskeleton-dependent cytokinesis (GO:0061640)2.33931458
60Sertoli cell development (GO:0060009)2.33855662
61hormone metabolic process (GO:0042445)2.31442352
62cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.28717063
63regulation of calcium ion-dependent exocytosis (GO:0017158)2.18868651
64regulation of ruffle assembly (GO:1900027)2.16552416
65negative regulation of macrophage differentiation (GO:0045650)2.15564540
66response to phenylpropanoid (GO:0080184)2.13093507
67blood vessel morphogenesis (GO:0048514)2.10757278
68response to inactivity (GO:0014854)2.10703865
69regulation of activin receptor signaling pathway (GO:0032925)2.10625551
70diol metabolic process (GO:0034311)2.09718691
71positive regulation of T cell cytokine production (GO:0002726)2.07325972
72positive regulation of cellular response to insulin stimulus (GO:1900078)2.07171485
73regulation of T-helper 2 cell differentiation (GO:0045628)2.01053042
74regulation of alpha-beta T cell proliferation (GO:0046640)2.01003693
75regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.00258957
76response to follicle-stimulating hormone (GO:0032354)15.7159551
77female pregnancy (GO:0007565)14.8294859
78regulation of gonadotropin secretion (GO:0032276)14.2206946
79estrogen metabolic process (GO:0008210)14.1238381
80glucocorticoid biosynthetic process (GO:0006704)13.5818999
81prostate gland growth (GO:0060736)13.3717235
82androgen biosynthetic process (GO:0006702)11.3465358
83multi-multicellular organism process (GO:0044706)10.7465211
84apical protein localization (GO:0045176)1.99786881
85mating behavior (GO:0007617)1.95585193
86female genitalia development (GO:0030540)1.95348375
87vitamin D metabolic process (GO:0042359)1.94452822
88thyroid hormone generation (GO:0006590)1.92210567
89insulin-like growth factor receptor signaling pathway (GO:0048009)1.90913386
90Leydig cell differentiation (GO:0033327)1.89062841
91lung vasculature development (GO:0060426)1.88969019
92negative regulation of Ras protein signal transduction (GO:0046580)1.88825603
93regulation of clathrin-mediated endocytosis (GO:2000369)1.87313133
94response to vitamin E (GO:0033197)1.87279507
95negative regulation of small GTPase mediated signal transduction (GO:0051058)1.82405226
96regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)1.80306210
97protein targeting to Golgi (GO:0000042)1.80248849
98negative regulation of myoblast differentiation (GO:0045662)1.79916556
99cellular response to gonadotropin stimulus (GO:0071371)1.79551856
100extracellular regulation of signal transduction (GO:1900115)1.78675363

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_19032775_ChIP-ChIP_M12_Human5.90680241
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.47366316
3TRIM28_17542650_ChIP-ChIP_NTERA2_Human3.10471638
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.98476038
5BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.88877896
6CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.61377760
7AHR_22903824_ChIP-Seq_MCF-7_Human2.56181947
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.53522989
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.44092035
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.23248087
11TP53_18474530_ChIP-ChIP_U2OS_Human2.19946664
12PPAR_26484153_Chip-Seq_NCI-H1993_Human2.08916329
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human13.5309851
14ARNT_22903824_ChIP-Seq_MCF-7_Human1.99343277
15CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.95100318
16ZNF217_24962896_ChIP-Seq_MCF-7_Human1.94909905
17JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.91500240
18ZNF263_19887448_ChIP-Seq_K562_Human1.86597702
19VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.79974877
20P63_26484246_Chip-Seq_KERATINOCYTES_Human1.79332195
21SCL_19346495_ChIP-Seq_HPC-7_Human1.76358823
22ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.74243753
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.71385298
24BRD4_25478319_ChIP-Seq_HGPS_Human1.64508447
25ESR1_21235772_ChIP-Seq_MCF-7_Human1.53808215
26FOXO3_23340844_ChIP-Seq_DLD1_Human1.52543613
27ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.40541792
28EZH2_18974828_ChIP-Seq_MESCs_Mouse1.37854968
29RNF2_18974828_ChIP-Seq_MESCs_Mouse1.37854968
30TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36514699
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.31448838
32GATA3_24758297_ChIP-Seq_MCF-7_Human1.28302985
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27520497
34VDR_24787735_ChIP-Seq_THP-1_Human1.27258207
35PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.25876298
36ER_23166858_ChIP-Seq_MCF-7_Human1.25493604
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25262552
38CTCF_27219007_Chip-Seq_ERYTHROID_Human1.22215496
39RXR_22108803_ChIP-Seq_LS180_Human1.19488796
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.19250457
41AR_21572438_ChIP-Seq_LNCaP_Human1.18861253
42NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.17704118
43CBP_20019798_ChIP-Seq_JUKART_Human1.14732300
44IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14732300
45TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.13674311
46KLF4_19829295_ChIP-Seq_ESCs_Human1.12052715
47TP63_23658742_ChIP-Seq_EP156T_Human1.08067452
48SMAD3_21741376_ChIP-Seq_HESCs_Human1.05686881
49TBX3_20139965_ChIP-Seq_ESCs_Mouse1.03274269
50TBX3_20139965_ChIP-Seq_MESCs_Mouse1.03226285
51SOX2_20726797_ChIP-Seq_SW620_Human1.01996262
52RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.01370533
53POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00988835
54TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00988835
55P300_19829295_ChIP-Seq_ESCs_Human1.00975464
56EWS_26573619_Chip-Seq_HEK293_Human1.00969562
57HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97960661
58GATA1_19941826_ChIP-Seq_K562_Human0.96781812
59NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.96172742
60POU5F1_16518401_ChIP-PET_MESCs_Mouse0.95696759
61ISL1_27105846_Chip-Seq_CPCs_Mouse0.94983168
62PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94951424
63ERG_20517297_ChIP-Seq_VCAP_Human0.94582198
64CJUN_26792858_Chip-Seq_BT549_Human0.94330848
65GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.94238425
66EP300_21415370_ChIP-Seq_HL-1_Mouse0.93593711
67SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.93115027
68EGR1_19374776_ChIP-ChIP_THP-1_Human0.92254196
69SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.92095017
70CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90434425
71RUNX2_22187159_ChIP-Seq_PCA_Human0.90156527
72FUS_26573619_Chip-Seq_HEK293_Human0.89378311
73JARID2_20064375_ChIP-Seq_MESCs_Mouse0.88860854
74SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.87571474
75FOXA2_19822575_ChIP-Seq_HepG2_Human0.87324471
76SOX2_19829295_ChIP-Seq_ESCs_Human0.87245334
77NANOG_19829295_ChIP-Seq_ESCs_Human0.87245334
78RNF2_27304074_Chip-Seq_ESCs_Mouse0.86861031
79SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86554739
80ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85186095
81PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.84688349
82JUN_21703547_ChIP-Seq_K562_Human0.84334920
83OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83433434
84JARID2_20075857_ChIP-Seq_MESCs_Mouse0.83167896
85HTT_18923047_ChIP-ChIP_STHdh_Human0.81993876
86TP63_22573176_ChIP-Seq_HFKS_Human0.81213120
87EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.81185149
88TAF15_26573619_Chip-Seq_HEK293_Human0.80310734
89UBF1/2_26484160_Chip-Seq_HMECs_Human0.79933321
90AR_19668381_ChIP-Seq_PC3_Human0.78315042
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75408724
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75408724
93GATA4_25053715_ChIP-Seq_YYC3_Human0.74282843
94CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.74153690
95ZFP57_27257070_Chip-Seq_ESCs_Mouse0.73963147
96MTF2_20144788_ChIP-Seq_MESCs_Mouse0.73890619
97FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.73026851
98AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.72804388
99JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71412421
100SA1_22415368_ChIP-Seq_MEFs_Mouse0.71108037

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology7.14224412
2MP0005379_endocrine/exocrine_gland_phen5.43333255
3MP0006276_abnormal_autonomic_nervous4.96117587
4MP0005647_abnormal_sex_gland3.89095216
5MP0010368_abnormal_lymphatic_system3.77018108
6MP0001919_abnormal_reproductive_system3.65345472
7MP0000013_abnormal_adipose_tissue3.09367891
8MP0003959_abnormal_lean_body2.52660976
9MP0001440_abnormal_grooming_behavior2.52064652
10MP0003941_abnormal_skin_development2.47210841
11MP0000003_abnormal_adipose_tissue2.44156584
12MP0004019_abnormal_vitamin_homeostasis2.25497240
13MP0006054_spinal_hemorrhage2.19330524
14MP0005389_reproductive_system_phenotype2.05077296
15MP0002876_abnormal_thyroid_physiology2.00436843
16MP0009697_abnormal_copulation11.8684896
17MP0001666_abnormal_nutrient_absorption1.89666310
18MP0009115_abnormal_fat_cell1.88997017
19MP0002653_abnormal_ependyma_morphology1.77681005
20MP0000613_abnormal_salivary_gland1.67234987
21MP0006138_congestive_heart_failure1.58935232
22MP0003936_abnormal_reproductive_system1.57312241
23MP0002971_abnormal_brown_adipose1.50184014
24MP0000639_abnormal_adrenal_gland1.44039840
25MP0010329_abnormal_lipoprotein_level1.42356638
26MP0000647_abnormal_sebaceous_gland1.41257370
27MP0009703_decreased_birth_body1.39221482
28MP0001879_abnormal_lymphatic_vessel1.38032053
29MP0002998_abnormal_bone_remodeling1.35194912
30MP0005375_adipose_tissue_phenotype1.31994279
31MP0002075_abnormal_coat/hair_pigmentati1.31340392
32MP0003453_abnormal_keratinocyte_physiol1.20855015
33MP0001756_abnormal_urination1.16485907
34MP0005023_abnormal_wound_healing1.05173880
35MP0004947_skin_inflammation1.03724684
36MP0002909_abnormal_adrenal_gland1.03144279
37MP0001186_pigmentation_phenotype0.88512739
38MP0005334_abnormal_fat_pad0.88297799
39MP0004085_abnormal_heartbeat0.87012060
40MP0001765_abnormal_ion_homeostasis0.83827254
41MP0004185_abnormal_adipocyte_glucose0.83753922
42MP0003136_yellow_coat_color0.79414202
43MP0010352_gastrointestinal_tract_polyps0.79351129
44MP0000230_abnormal_systemic_arterial0.77886601
45MP0002128_abnormal_blood_circulation0.77129511
46MP0002557_abnormal_social/conspecific_i0.75537156
47MP0001915_intracranial_hemorrhage0.72356979
48MP0000685_abnormal_immune_system0.71458088
49MP0002086_abnormal_extraembryonic_tissu0.70713345
50MP0003566_abnormal_cell_adhesion0.68195264
51MP0002972_abnormal_cardiac_muscle0.66665581
52MP0003950_abnormal_plasma_membrane0.66079555
53MP0005319_abnormal_enzyme/_coenzyme0.65519491
54MP0005409_darkened_coat_color0.64977152
55MP0003567_abnormal_fetal_cardiomyocyte0.63084239
56MP0003795_abnormal_bone_structure0.60423736
57MP0003122_maternal_imprinting0.60226199
58MP0003385_abnormal_body_wall0.60129639
59MP0001340_abnormal_eyelid_morphology0.59298288
60MP0000681_abnormal_thyroid_gland0.57162133
61MP0004145_abnormal_muscle_electrophysio0.56123222
62MP0003705_abnormal_hypodermis_morpholog0.54643622
63MP0004272_abnormal_basement_membrane0.54031973
64MP0005452_abnormal_adipose_tissue0.53336988
65MP0001119_abnormal_female_reproductive0.53254219
66MP0000367_abnormal_coat/_hair0.52778558
67MP0002210_abnormal_sex_determination0.51609950
68MP0004782_abnormal_surfactant_physiolog0.51440271
69MP0005636_abnormal_mineral_homeostasis0.50495272
70MP0003699_abnormal_female_reproductive0.49445239
71MP0004381_abnormal_hair_follicle0.48799427
72MP0003828_pulmonary_edema0.46753398
73MP0005076_abnormal_cell_differentiation0.44114348
74MP0000383_abnormal_hair_follicle0.43452984
75MP0000598_abnormal_liver_morphology0.43139662
76MP0009780_abnormal_chondrocyte_physiolo0.42951157
77MP0005385_cardiovascular_system_phenoty0.41307833
78MP0001544_abnormal_cardiovascular_syste0.41307833
79MP0000266_abnormal_heart_morphology0.40141516
80MP0003953_abnormal_hormone_level0.38616654
81MP0000759_abnormal_skeletal_muscle0.35751704
82MP0003183_abnormal_peptide_metabolism0.35528066
83MP0003724_increased_susceptibility_to0.33682297
84MP0002295_abnormal_pulmonary_circulatio0.32346874
85MP0001545_abnormal_hematopoietic_system0.31126000
86MP0005397_hematopoietic_system_phenotyp0.31126000
87MP0005666_abnormal_adipose_tissue0.29838023
88MP0003091_abnormal_cell_migration0.29399842
89MP0001929_abnormal_gametogenesis0.28923345
90MP0000747_muscle_weakness0.28285402
91MP0002925_abnormal_cardiovascular_devel0.27756277
92MP0000627_abnormal_mammary_gland0.27124158
93MP0001188_hyperpigmentation0.26761796
94MP0003191_abnormal_cellular_cholesterol0.26196380
95MP0002136_abnormal_kidney_physiology0.26087615
96MP0008057_abnormal_DNA_replication0.25671993
97MP0000653_abnormal_sex_gland0.24337002
98MP0001614_abnormal_blood_vessel0.23652608
99MP0010678_abnormal_skin_adnexa0.22563102
100MP0005187_abnormal_penis_morphology0.21987280

Predicted human phenotypes

RankGene SetZ-score
1Hypergonadotropic hypogonadism (HP:0000815)9.13595889
2Upper limb muscle weakness (HP:0003484)8.79961681
3Decreased number of large peripheral myelinated nerve fibers (HP:0003387)8.70885492
4Abnormal pupillary function (HP:0007686)6.91963108
5Muscle fibrillation (HP:0010546)6.54387005
6Nonimmune hydrops fetalis (HP:0001790)6.42667312
7Tongue fasciculations (HP:0001308)6.22073425
8Abnormal auditory evoked potentials (HP:0006958)6.14905041
9Accelerated skeletal maturation (HP:0005616)6.11330890
10Female pseudohermaphroditism (HP:0010458)5.71957717
11Anosmia (HP:0000458)5.46635133
12Back pain (HP:0003418)4.62975783
13Lower limb asymmetry (HP:0100559)4.51755016
14Gynecomastia (HP:0000771)4.18320765
15Hypogonadotrophic hypogonadism (HP:0000044)3.93322000
16Basal cell carcinoma (HP:0002671)3.89858913
17Abnormality of the ischium (HP:0003174)3.89212564
18Bilateral microphthalmos (HP:0007633)3.75313968
19Long palpebral fissure (HP:0000637)3.45928066
20Primary amenorrhea (HP:0000786)3.43646303
21Onion bulb formation (HP:0003383)3.37900161
22Abnormal pancreas size (HP:0012094)3.22619016
23Pseudobulbar signs (HP:0002200)3.17118573
24Sex reversal (HP:0012245)3.10199577
25Abnormal sex determination (HP:0012244)3.10199577
26Long eyelashes (HP:0000527)3.04914180
27Decreased number of peripheral myelinated nerve fibers (HP:0003380)3.02178784
28Areflexia of lower limbs (HP:0002522)3.01967648
29Disproportionate tall stature (HP:0001519)3.01230779
30Testicular neoplasm (HP:0010788)2.98216446
31Genu valgum (HP:0002857)2.94901082
32Abnormality of the aortic arch (HP:0012303)2.94435611
33Venous insufficiency (HP:0005293)2.88904438
34Peripheral demyelination (HP:0011096)2.80365447
35Bilateral sensorineural hearing impairment (HP:0008619)2.74324933
36Wormian bones (HP:0002645)2.72944493
37Decreased motor nerve conduction velocity (HP:0003431)2.64156739
38Bicornuate uterus (HP:0000813)2.63981653
39Polycythemia (HP:0001901)2.62394168
40Delayed gross motor development (HP:0002194)2.61558189
41Asymmetric growth (HP:0100555)2.58834127
42Difficulty walking (HP:0002355)2.51840811
43Hyperaldosteronism (HP:0000859)2.40691942
44Congenital ichthyosiform erythroderma (HP:0007431)2.39861955
45Venous abnormality (HP:0002624)2.38377037
46Abnormality of the pupil (HP:0000615)2.31624445
47Spontaneous hematomas (HP:0007420)2.30158264
48Hypoplastic nipples (HP:0002557)2.29818010
49Mutism (HP:0002300)2.28375248
50Short tibia (HP:0005736)2.26593424
51Arteriovenous malformation (HP:0100026)2.24941338
52Hematochezia (HP:0002573)2.24830659
53Aplasia/Hypoplasia of the tibia (HP:0005772)2.17486006
54Anophthalmia (HP:0000528)2.16589790
55Abnormality of liposaccharide metabolism (HP:0010968)2.15102695
56Abnormality of glycosphingolipid metabolism (HP:0004343)2.15102695
57Abnormality of glycolipid metabolism (HP:0010969)2.15102695
58Annular pancreas (HP:0001734)2.13777762
59Flat cornea (HP:0007720)2.13283373
60Hypoplasia of the uterus (HP:0000013)2.11195334
61Fragile skin (HP:0001030)2.10168918
62Hyporeflexia of lower limbs (HP:0002600)2.08358047
63Aplasia of the musculature (HP:0100854)2.05624880
64Distal lower limb muscle weakness (HP:0009053)2.04531640
65Morphological abnormality of the middle ear (HP:0008609)2.02549461
66Cardiovascular calcification (HP:0011915)2.01614738
67Capillary hemangiomas (HP:0005306)10.1318762
68Renal salt wasting (HP:0000127)1.97508371
69Decreased circulating renin level (HP:0003351)1.93120742
70Abnormal autonomic nervous system physiology (HP:0012332)1.87701020
71Ectopic kidney (HP:0000086)1.86828027
72Right ventricular cardiomyopathy (HP:0011663)1.85215680
73Ulnar deviation of finger (HP:0009465)1.85092182
74Confusion (HP:0001289)1.85090571
75Coarctation of aorta (HP:0001680)1.84635781
76Hypoplasia of the iris (HP:0007676)1.83186159
77Long clavicles (HP:0000890)1.82472102
78Severe Myopia (HP:0011003)1.80895229
79Sparse lateral eyebrow (HP:0005338)1.75336883
80Hypohidrosis (HP:0000966)1.75328088
81Lymphedema (HP:0001004)1.74335571
82Fasciculations (HP:0002380)1.72792801
83Deep philtrum (HP:0002002)1.71863877
84Eczematoid dermatitis (HP:0000976)1.71082324
85Blue sclerae (HP:0000592)1.70732467
86Hyperpituitarism (HP:0010514)1.66652341
87Cerebral aneurysm (HP:0004944)1.64524454
88Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.62826033
89Abnormality of incisor morphology (HP:0011063)1.62481297
90Breast hypoplasia (HP:0003187)1.61336404
91Myotonia (HP:0002486)1.61176783
92Aortic aneurysm (HP:0004942)1.59503352
93Abnormal lung lobation (HP:0002101)1.59256792
94Abnormality of secondary sexual hair (HP:0009888)1.53215178
95Abnormality of the axillary hair (HP:0100134)1.53215178
96Abnormality of the nasolacrimal system (HP:0000614)1.51721408
97Aplasia cutis congenita (HP:0001057)1.50997377
98Teleangiectasia of the skin (HP:0100585)1.49886395
99Midline defect of the nose (HP:0004122)1.49788577
100Kyphoscoliosis (HP:0002751)1.48840477

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA6.63847216
2AKT35.84611982
3DAPK24.75774911
4BLK2.93023081
5ICK2.57390337
6PDGFRB2.53789400
7MST42.37620952
8KDR10.6303325
9TIE11.83160496
10DAPK11.74312014
11PKN11.52307167
12NEK91.24902656
13ERBB41.18130748
14DAPK31.10572853
15MAP3K71.07847627
16INSR1.07744374
17RIPK11.05754416
18PDPK11.05422357
19SRC1.03790991
20RPS6KA20.98870211
21EGFR0.93271796
22LATS10.93110826
23INSRR0.87689107
24FRK0.86080225
25RPS6KA60.75444078
26RPS6KC10.74169631
27RPS6KL10.74169631
28STK380.72403543
29TYK20.72062173
30FES0.67074014
31PTK60.66041822
32MAPK130.64770563
33MET0.62382029
34STK100.61224177
35JAK20.59936087
36TGFBR20.59210698
37MARK20.58620763
38YES10.58367515
39AKT20.57653195
40TRPM70.52327378
41PRKCZ0.51752426
42PDK10.51383521
43PRKD20.44693133
44SGK2230.43406525
45SGK4940.43406525
46PRKD10.42219687
47LYN0.41266642
48AURKB0.39657607
49EPHA20.38463297
50NME10.37927602
51SGK10.37344065
52MAP2K10.37177327
53BRD40.36675879
54MAPK40.36622840
55MTOR0.36155130
56DYRK1B0.34761280
57FER0.33353578
58CDC42BPA0.33327327
59MAPK110.32746343
60LCK0.31600898
61PRKCQ0.31298453
62SMG10.29798397
63MYLK0.29751081
64HCK0.28185191
65PRKCA0.26560804
66TAF10.23734387
67MELK0.23511773
68ERBB20.22399092
69TXK0.22304250
70EPHB20.21367096
71PRKAA10.20162969
72PTK2B0.19326931
73CAMK40.18927273
74MAP3K120.18879435
75ERBB30.18518282
76PRKAA20.18298392
77MAPK10.18110220
78PRKCE0.16563429
79KIT0.16370436
80MAP3K90.15084375
81STK30.13928915
82SGK30.13319229
83RPS6KA10.12919022
84STK240.12209513
85MAPK80.11507661
86MAPK30.11248423
87SGK20.11069055
88ROCK10.10537578
89PRKCB0.09795911
90CAMK2G0.09488410
91FGFR30.09309668
92MAP3K40.08575189
93ROCK20.08459837
94TESK20.07909700
95PINK10.07547491
96PIK3CA0.06963862
97TBK10.06874574
98MAP2K20.06262464
99CAMK1D0.06224882
100PRKG20.06050066

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049139.73823918
2Steroid hormone biosynthesis_Homo sapiens_hsa001408.43177532
3* Jak-STAT signaling pathway_Homo sapiens_hsa046303.06885393
4Folate biosynthesis_Homo sapiens_hsa007902.56945205
5Aldosterone synthesis and secretion_Homo sapiens_hsa049252.40563042
6N-Glycan biosynthesis_Homo sapiens_hsa005102.09216453
7Sphingolipid metabolism_Homo sapiens_hsa006001.96729358
8Mineral absorption_Homo sapiens_hsa049781.92591473
9Renin-angiotensin system_Homo sapiens_hsa046141.92222816
10* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.56801335
11* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.46960350
12Histidine metabolism_Homo sapiens_hsa003401.34954843
13Vitamin digestion and absorption_Homo sapiens_hsa049771.22705076
14Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.21166339
15Salivary secretion_Homo sapiens_hsa049701.19591167
16Inositol phosphate metabolism_Homo sapiens_hsa005621.18153413
17Axon guidance_Homo sapiens_hsa043601.14177317
18Ras signaling pathway_Homo sapiens_hsa040141.07700590
19Tryptophan metabolism_Homo sapiens_hsa003801.05841807
20Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.03314075
21Focal adhesion_Homo sapiens_hsa045100.95846106
22Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.95670972
23Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.94484598
24Dorso-ventral axis formation_Homo sapiens_hsa043200.92955670
25Sphingolipid signaling pathway_Homo sapiens_hsa040710.92837930
26Renal cell carcinoma_Homo sapiens_hsa052110.92651944
27Prolactin signaling pathway_Homo sapiens_hsa049170.89250907
28ECM-receptor interaction_Homo sapiens_hsa045120.85268954
29Phosphatidylinositol signaling system_Homo sapiens_hsa040700.82735883
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71300894
31Rap1 signaling pathway_Homo sapiens_hsa040150.70185855
32Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.68701912
33AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.67011359
34Malaria_Homo sapiens_hsa051440.64229808
35Thyroid hormone synthesis_Homo sapiens_hsa049180.58754916
36Bladder cancer_Homo sapiens_hsa052190.55708282
37Tight junction_Homo sapiens_hsa045300.54983790
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54221829
39Autoimmune thyroid disease_Homo sapiens_hsa053200.50357793
40HIF-1 signaling pathway_Homo sapiens_hsa040660.49364370
41Adherens junction_Homo sapiens_hsa045200.48667727
42Glycosaminoglycan degradation_Homo sapiens_hsa005310.48499610
43Other glycan degradation_Homo sapiens_hsa005110.48478088
44Endocytosis_Homo sapiens_hsa041440.45102930
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44755995
46Insulin resistance_Homo sapiens_hsa049310.43982951
47Prostate cancer_Homo sapiens_hsa052150.43373632
48Small cell lung cancer_Homo sapiens_hsa052220.42520172
49Proteoglycans in cancer_Homo sapiens_hsa052050.41935990
50Type II diabetes mellitus_Homo sapiens_hsa049300.41686767
51FoxO signaling pathway_Homo sapiens_hsa040680.40762056
52Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40610253
53GnRH signaling pathway_Homo sapiens_hsa049120.39165215
54Pathways in cancer_Homo sapiens_hsa052000.37833714
55Complement and coagulation cascades_Homo sapiens_hsa046100.37381916
56ErbB signaling pathway_Homo sapiens_hsa040120.36084102
57Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35563015
58TGF-beta signaling pathway_Homo sapiens_hsa043500.35242038
59Acute myeloid leukemia_Homo sapiens_hsa052210.33790709
60Chronic myeloid leukemia_Homo sapiens_hsa052200.32844900
61Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.31491353
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.31047410
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29757434
64Platelet activation_Homo sapiens_hsa046110.28377076
65MAPK signaling pathway_Homo sapiens_hsa040100.27426526
66Endometrial cancer_Homo sapiens_hsa052130.26848285
67Fatty acid biosynthesis_Homo sapiens_hsa000610.26173607
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24720953
69Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23600875
70Metabolic pathways_Homo sapiens_hsa011000.22796956
71Hippo signaling pathway_Homo sapiens_hsa043900.22595182
72Amoebiasis_Homo sapiens_hsa051460.21228752
73Choline metabolism in cancer_Homo sapiens_hsa052310.20952556
74Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.20467016
75Leukocyte transendothelial migration_Homo sapiens_hsa046700.19071487
76Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.18423798
77Estrogen signaling pathway_Homo sapiens_hsa049150.17966040
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.17100975
79Arginine and proline metabolism_Homo sapiens_hsa003300.16940003
80Hepatitis B_Homo sapiens_hsa051610.16846040
81MicroRNAs in cancer_Homo sapiens_hsa052060.15451547
82Nicotine addiction_Homo sapiens_hsa050330.15150483
83Glioma_Homo sapiens_hsa052140.14071062
84Phenylalanine metabolism_Homo sapiens_hsa003600.13383396
85Longevity regulating pathway - mammal_Homo sapiens_hsa042110.12690504
86Toxoplasmosis_Homo sapiens_hsa051450.12571194
87Chemokine signaling pathway_Homo sapiens_hsa040620.11728064
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.11168112
89Non-small cell lung cancer_Homo sapiens_hsa052230.10912931
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.10808880
91Hepatitis C_Homo sapiens_hsa051600.10481887
92Insulin signaling pathway_Homo sapiens_hsa049100.09866567
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.09714200
94Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.09245087
95Gastric acid secretion_Homo sapiens_hsa049710.09175836
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.09027476
97NF-kappa B signaling pathway_Homo sapiens_hsa040640.08399563
98Adipocytokine signaling pathway_Homo sapiens_hsa049200.07999875
99Melanogenesis_Homo sapiens_hsa049160.07691380
100Lysosome_Homo sapiens_hsa041420.07616869

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