GH2

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 which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1androgen metabolic process (GO:0008209)9.93676557
2positive regulation of growth hormone secretion (GO:0060124)9.58480049
3multi-organism reproductive process (GO:0044703)9.52911910
4glucocorticoid metabolic process (GO:0008211)8.06893012
5hormone biosynthetic process (GO:0042446)7.44736466
6regulation of growth hormone secretion (GO:0060123)6.85576155
7vitamin transmembrane transport (GO:0035461)6.60483698
8collecting duct development (GO:0072044)6.30375723
9response to gonadotropin (GO:0034698)6.08783614
10positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-6.08306226
11myoblast fusion (GO:0007520)6.05750458
12syncytium formation (GO:0006949)5.94677705
13endocrine hormone secretion (GO:0060986)5.68812810
14negative regulation of activin receptor signaling pathway (GO:0032926)5.47737252
15protein neddylation (GO:0045116)5.39221963
16syncytium formation by plasma membrane fusion (GO:0000768)5.31000082
17positive regulation of protein kinase C signaling (GO:0090037)5.13489435
18lymphangiogenesis (GO:0001946)4.93220187
19sphingoid metabolic process (GO:0046519)4.79073215
20positive regulation of interferon-gamma biosynthetic process (GO:0045078)4.61566526
21cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.53881658
22lymph vessel development (GO:0001945)4.48583954
23vascular endothelial growth factor signaling pathway (GO:0038084)4.41463349
24L-alpha-amino acid transmembrane transport (GO:1902475)4.40404654
25regulation of interferon-gamma biosynthetic process (GO:0045072)4.38652579
26bone morphogenesis (GO:0060349)4.28946466
27estrogen biosynthetic process (GO:0006703)33.5299926
28T-helper 1 type immune response (GO:0042088)3.75126155
29myelin maintenance (GO:0043217)3.72620796
30negative regulation of smooth muscle cell differentiation (GO:0051151)3.65096399
31regulation of G0 to G1 transition (GO:0070316)3.51783768
32regulation of endocrine process (GO:0044060)3.51209152
33cellular hormone metabolic process (GO:0034754)3.40611388
34sprouting angiogenesis (GO:0002040)3.39465820
35parturition (GO:0007567)3.38851492
36vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.11604726
37eyelid development in camera-type eye (GO:0061029)3.08095330
38steroid biosynthetic process (GO:0006694)3.01261565
39interkinetic nuclear migration (GO:0022027)2.99181495
40keratinocyte development (GO:0003334)2.97988333
41polarized epithelial cell differentiation (GO:0030859)2.92808913
42C21-steroid hormone biosynthetic process (GO:0006700)2.90168815
43positive regulation of insulin receptor signaling pathway (GO:0046628)2.85733846
44sequestering of extracellular ligand from receptor (GO:0035581)2.83164474
45transcytosis (GO:0045056)2.81958050
46progesterone metabolic process (GO:0042448)2.78055758
47antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.76205150
48mitotic cytokinesis (GO:0000281)2.70997859
49iron ion import (GO:0097286)2.68188368
50ketone biosynthetic process (GO:0042181)2.60784821
51ear development (GO:0043583)2.58260734
52Sertoli cell development (GO:0060009)2.51314093
53basement membrane organization (GO:0071711)2.44816404
54negative regulation of cell-matrix adhesion (GO:0001953)2.43369161
55positive regulation of alpha-beta T cell proliferation (GO:0046641)2.38501081
56positive regulation of digestive system process (GO:0060456)2.38290204
57response to phenylpropanoid (GO:0080184)2.35899778
58sphingosine metabolic process (GO:0006670)2.33309556
59positive regulation of SMAD protein import into nucleus (GO:0060391)2.33004697
60Leydig cell differentiation (GO:0033327)2.32591758
61hormone metabolic process (GO:0042445)2.32392752
62regulation of calcium ion-dependent exocytosis (GO:0017158)2.32040605
63regulation of activin receptor signaling pathway (GO:0032925)2.28498070
64cytoskeleton-dependent cytokinesis (GO:0061640)2.25134670
65regulation of protein kinase C signaling (GO:0090036)2.21931112
66thyroid hormone generation (GO:0006590)2.19441381
67histone H2A monoubiquitination (GO:0035518)2.19132664
68bone trabecula formation (GO:0060346)2.12802207
69negative regulation of macrophage differentiation (GO:0045650)2.12126708
70regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.11555044
71vitamin D metabolic process (GO:0042359)2.05002341
72negative regulation of organ growth (GO:0046621)2.04660710
73regulation of ruffle assembly (GO:1900027)2.03910285
74diol metabolic process (GO:0034311)2.02375438
75response to follicle-stimulating hormone (GO:0032354)15.8341180
76female pregnancy (GO:0007565)15.1639873
77regulation of gonadotropin secretion (GO:0032276)14.4047046
78estrogen metabolic process (GO:0008210)14.3408156
79glucocorticoid biosynthetic process (GO:0006704)13.9354150
80prostate gland growth (GO:0060736)13.6124931
81androgen biosynthetic process (GO:0006702)11.4601300
82multi-multicellular organism process (GO:0044706)10.9748765
83response to insecticide (GO:0017085)1.99623389
84placenta development (GO:0001890)1.93719465
85regulation of NIK/NF-kappaB signaling (GO:1901222)1.93598073
86apical protein localization (GO:0045176)1.93433137
87cellular response to vascular endothelial growth factor stimulus (GO:0035924)1.92584978
88female genitalia development (GO:0030540)1.91267976
89positive regulation of cellular response to insulin stimulus (GO:1900078)1.88370028
90C21-steroid hormone metabolic process (GO:0008207)1.88109888
91thyroid hormone metabolic process (GO:0042403)1.86805665
92blood vessel morphogenesis (GO:0048514)1.86374346
93response to inactivity (GO:0014854)1.84312443
94positive regulation of steroid hormone secretion (GO:2000833)1.83661490
95regulation of clathrin-mediated endocytosis (GO:2000369)1.83066335
96mitotic G2 DNA damage checkpoint (GO:0007095)1.81349467
97positive regulation of T cell cytokine production (GO:0002726)1.80273227
98regulation of alpha-beta T cell proliferation (GO:0046640)1.78388493
99vitamin transport (GO:0051180)1.78268311
100cellular response to exogenous dsRNA (GO:0071360)1.77310633

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_19032775_ChIP-ChIP_M12_Human6.67629392
2PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.61305762
3TRIM28_17542650_ChIP-ChIP_NTERA2_Human3.56476419
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.09196070
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.88091392
6BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.84943080
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.62016570
8ZNF263_19887448_ChIP-Seq_K562_Human2.40791728
9AHR_22903824_ChIP-Seq_MCF-7_Human2.36823098
10ESR1_20079471_ChIP-ChIP_T-47D_Human2.36082104
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.21424160
12TP53_18474530_ChIP-ChIP_U2OS_Human2.16469342
13PPAR_26484153_Chip-Seq_NCI-H1993_Human2.06033840
14CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.05416349
15MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human14.7733284
16JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.87715523
17P63_26484246_Chip-Seq_KERATINOCYTES_Human1.82828375
18ZNF217_24962896_ChIP-Seq_MCF-7_Human1.74772538
19ARNT_22903824_ChIP-Seq_MCF-7_Human1.74738607
20SCL_19346495_ChIP-Seq_HPC-7_Human1.71976743
21BRD4_25478319_ChIP-Seq_HGPS_Human1.68230972
22ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.67200846
23EWS_26573619_Chip-Seq_HEK293_Human1.64764019
24ER_23166858_ChIP-Seq_MCF-7_Human1.57652628
25CBP_20019798_ChIP-Seq_JUKART_Human1.41886729
26IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.41886729
27P300_19829295_ChIP-Seq_ESCs_Human1.41116950
28FUS_26573619_Chip-Seq_HEK293_Human1.40919835
29PIAS1_25552417_ChIP-Seq_VCAP_Human1.37470439
30AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.36032422
31GATA3_24758297_ChIP-Seq_MCF-7_Human1.35049940
32FOXO3_23340844_ChIP-Seq_DLD1_Human1.26566696
33AR_21572438_ChIP-Seq_LNCaP_Human1.26051189
34VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.24025970
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.20232803
36PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.19445799
37ERG_20517297_ChIP-Seq_VCAP_Human1.19069579
38TBX3_20139965_ChIP-Seq_ESCs_Mouse1.18952419
39SOX2_19829295_ChIP-Seq_ESCs_Human1.18446030
40NANOG_19829295_ChIP-Seq_ESCs_Human1.18446030
41TBX3_20139965_ChIP-Seq_MESCs_Mouse1.18442757
42RXR_22108803_ChIP-Seq_LS180_Human1.16204288
43ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15625809
44GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.15041036
45ESR1_21235772_ChIP-Seq_MCF-7_Human1.12731881
46HTT_18923047_ChIP-ChIP_STHdh_Human1.12503999
47KLF4_19829295_ChIP-Seq_ESCs_Human1.11177228
48TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.10411188
49RUNX2_22187159_ChIP-Seq_PCA_Human1.10273172
50CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09803788
51ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.09331702
52IGF1R_20145208_ChIP-Seq_DFB_Human1.08440075
53EZH2_18974828_ChIP-Seq_MESCs_Mouse1.07953936
54RNF2_18974828_ChIP-Seq_MESCs_Mouse1.07953936
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.06355242
56JUN_21703547_ChIP-Seq_K562_Human1.04578571
57FOXA1_27270436_Chip-Seq_PROSTATE_Human1.03954926
58FOXA1_25329375_ChIP-Seq_VCAP_Human1.03954926
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03635346
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03635346
61PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01463423
62MYC_19829295_ChIP-Seq_ESCs_Human0.99418816
63TP63_23658742_ChIP-Seq_EP156T_Human0.96790829
64TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96128003
65VDR_24787735_ChIP-Seq_THP-1_Human0.95345105
66SMAD3_21741376_ChIP-Seq_HESCs_Human0.93961707
67POU5F1_16518401_ChIP-PET_MESCs_Mouse0.93825835
68SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.92308926
69CDX2_22108803_ChIP-Seq_LS180_Human0.90589597
70PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88589906
71TAF15_26573619_Chip-Seq_HEK293_Human0.88336943
72AR_21909140_ChIP-Seq_LNCAP_Human0.87129493
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87059915
74ISL1_27105846_Chip-Seq_CPCs_Mouse0.85447634
75RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.85423146
76SOX2_20726797_ChIP-Seq_SW620_Human0.83606392
77EP300_21415370_ChIP-Seq_HL-1_Mouse0.82709629
78TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.81605494
79HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.80995188
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.80942859
81GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.79954172
82SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.79054691
83AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77318004
84GATA4_25053715_ChIP-Seq_YYC3_Human0.77049692
85ZFP57_27257070_Chip-Seq_ESCs_Mouse0.76957625
86TAF2_19829295_ChIP-Seq_ESCs_Human0.75758484
87SA1_22415368_ChIP-Seq_MEFs_Mouse0.75094630
88GATA3_21878914_ChIP-Seq_MCF-7_Human0.74515774
89KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.73807073
90TBL1_22424771_ChIP-Seq_293T_Human0.73559056
91HIF1A_21447827_ChIP-Seq_MCF-7_Human0.73077652
92P300_27268052_Chip-Seq_Bcells_Human0.70927276
93NFYA_21822215_ChIP-Seq_K562_Human0.70764757
94TOP2B_26459242_ChIP-Seq_MCF-7_Human0.69835454
95NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.68045937
96CJUN_26792858_Chip-Seq_BT549_Human0.67960223
97TP63_22573176_ChIP-Seq_HFKS_Human0.67510166
98RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.66439620
99TAL1_26923725_Chip-Seq_HPCs_Mouse0.65142112
100BP1_19119308_ChIP-ChIP_Hs578T_Human0.64227663

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology6.93508659
2MP0005379_endocrine/exocrine_gland_phen5.30524829
3MP0006276_abnormal_autonomic_nervous5.08282294
4MP0005647_abnormal_sex_gland3.79156092
5MP0001919_abnormal_reproductive_system3.73966994
6MP0010368_abnormal_lymphatic_system3.61667238
7MP0003941_abnormal_skin_development3.10465810
8MP0000013_abnormal_adipose_tissue2.98978809
9MP0001440_abnormal_grooming_behavior2.57087008
10MP0004019_abnormal_vitamin_homeostasis2.32031894
11MP0000003_abnormal_adipose_tissue2.31304021
12MP0003959_abnormal_lean_body2.28181964
13MP0005389_reproductive_system_phenotype2.23617892
14MP0002876_abnormal_thyroid_physiology2.13699425
15MP0009697_abnormal_copulation11.9800970
16MP0006054_spinal_hemorrhage1.91809684
17MP0002653_abnormal_ependyma_morphology1.82433509
18MP0001666_abnormal_nutrient_absorption1.81860172
19MP0009115_abnormal_fat_cell1.79781404
20MP0003936_abnormal_reproductive_system1.65694118
21MP0000613_abnormal_salivary_gland1.61365306
22MP0009703_decreased_birth_body1.55356001
23MP0006138_congestive_heart_failure1.46614193
24MP0001879_abnormal_lymphatic_vessel1.43505902
25MP0000647_abnormal_sebaceous_gland1.40815447
26MP0010329_abnormal_lipoprotein_level1.34407129
27MP0002971_abnormal_brown_adipose1.31073048
28MP0005375_adipose_tissue_phenotype1.27164532
29MP0000639_abnormal_adrenal_gland1.26115847
30MP0001756_abnormal_urination1.21587735
31MP0010352_gastrointestinal_tract_polyps1.19000311
32MP0002998_abnormal_bone_remodeling1.18820643
33MP0002075_abnormal_coat/hair_pigmentati1.18197801
34MP0003453_abnormal_keratinocyte_physiol1.00427514
35MP0005023_abnormal_wound_healing0.99677146
36MP0004185_abnormal_adipocyte_glucose0.92317444
37MP0003567_abnormal_fetal_cardiomyocyte0.91774960
38MP0003136_yellow_coat_color0.90464988
39MP0004085_abnormal_heartbeat0.86601238
40MP0000230_abnormal_systemic_arterial0.84773539
41MP0001186_pigmentation_phenotype0.81147906
42MP0002086_abnormal_extraembryonic_tissu0.80641050
43MP0005334_abnormal_fat_pad0.79678724
44MP0009379_abnormal_foot_pigmentation0.79561187
45MP0002909_abnormal_adrenal_gland0.77486328
46MP0008057_abnormal_DNA_replication0.76024004
47MP0001915_intracranial_hemorrhage0.75676587
48MP0002557_abnormal_social/conspecific_i0.73370207
49MP0001765_abnormal_ion_homeostasis0.71273360
50MP0002210_abnormal_sex_determination0.70082149
51MP0005319_abnormal_enzyme/_coenzyme0.69495309
52MP0002128_abnormal_blood_circulation0.68132820
53MP0001119_abnormal_female_reproductive0.67165709
54MP0004947_skin_inflammation0.66160908
55MP0002972_abnormal_cardiac_muscle0.66000990
56MP0002254_reproductive_system_inflammat0.60951348
57MP0003122_maternal_imprinting0.59469690
58MP0003385_abnormal_body_wall0.58473050
59MP0001340_abnormal_eyelid_morphology0.57214369
60MP0005636_abnormal_mineral_homeostasis0.56966234
61MP0003699_abnormal_female_reproductive0.56479429
62MP0003566_abnormal_cell_adhesion0.53384721
63MP0005452_abnormal_adipose_tissue0.52571928
64MP0003795_abnormal_bone_structure0.51409948
65MP0004782_abnormal_surfactant_physiolog0.49327715
66MP0004145_abnormal_muscle_electrophysio0.46974195
67MP0001929_abnormal_gametogenesis0.46745861
68MP0000681_abnormal_thyroid_gland0.46178649
69MP0001188_hyperpigmentation0.46020857
70MP0004272_abnormal_basement_membrane0.45081350
71MP0000367_abnormal_coat/_hair0.44099262
72MP0005385_cardiovascular_system_phenoty0.43941516
73MP0001544_abnormal_cardiovascular_syste0.43941516
74MP0000685_abnormal_immune_system0.42741518
75MP0000598_abnormal_liver_morphology0.42576209
76MP0003724_increased_susceptibility_to0.42228301
77MP0004147_increased_porphyrin_level0.41772521
78MP0000653_abnormal_sex_gland0.41726019
79MP0000266_abnormal_heart_morphology0.40657775
80MP0002295_abnormal_pulmonary_circulatio0.39417405
81MP0001730_embryonic_growth_arrest0.39131063
82MP0000627_abnormal_mammary_gland0.38904259
83MP0002084_abnormal_developmental_patter0.37949505
84MP0009672_abnormal_birth_weight0.35034475
85MP0003953_abnormal_hormone_level0.34689805
86MP0006035_abnormal_mitochondrial_morpho0.34115310
87MP0001145_abnormal_male_reproductive0.33995744
88MP0003698_abnormal_male_reproductive0.32282737
89MP0001545_abnormal_hematopoietic_system0.31736485
90MP0005397_hematopoietic_system_phenotyp0.31736485
91MP0003718_maternal_effect0.31456741
92MP0002160_abnormal_reproductive_system0.29464172
93MP0005666_abnormal_adipose_tissue0.28915133
94MP0003183_abnormal_peptide_metabolism0.28485224
95MP0001881_abnormal_mammary_gland0.27636445
96MP0000427_abnormal_hair_cycle0.27328798
97MP0008875_abnormal_xenobiotic_pharmacok0.26920916
98MP0002925_abnormal_cardiovascular_devel0.26806658
99MP0005167_abnormal_blood-brain_barrier0.25430392
100MP0000759_abnormal_skeletal_muscle0.25356444

Predicted human phenotypes

RankGene SetZ-score
1Hypergonadotropic hypogonadism (HP:0000815)9.05900605
2Decreased number of large peripheral myelinated nerve fibers (HP:0003387)8.40338448
3Upper limb muscle weakness (HP:0003484)8.34654656
4Abnormal pupillary function (HP:0007686)6.97957533
5Abnormal auditory evoked potentials (HP:0006958)6.41710975
6Muscle fibrillation (HP:0010546)6.23484106
7Nonimmune hydrops fetalis (HP:0001790)6.02186202
8Tongue fasciculations (HP:0001308)5.97855792
9Female pseudohermaphroditism (HP:0010458)5.84635417
10Accelerated skeletal maturation (HP:0005616)5.83255256
11Anosmia (HP:0000458)5.49619214
12Bilateral microphthalmos (HP:0007633)4.79710100
13Basal cell carcinoma (HP:0002671)4.41071133
14Gynecomastia (HP:0000771)4.32367424
15Back pain (HP:0003418)4.28354305
16Hypogonadotrophic hypogonadism (HP:0000044)4.25135663
17Lower limb asymmetry (HP:0100559)4.03410218
18Primary amenorrhea (HP:0000786)3.76802181
19Abnormality of the ischium (HP:0003174)3.34027926
20Areflexia of lower limbs (HP:0002522)3.20135469
21Sex reversal (HP:0012245)3.06403490
22Abnormal sex determination (HP:0012244)3.06403490
23Bicornuate uterus (HP:0000813)3.06398466
24Abnormal pancreas size (HP:0012094)3.01765067
25Pseudobulbar signs (HP:0002200)2.97419208
26Arteriovenous malformation (HP:0100026)2.95493002
27Long palpebral fissure (HP:0000637)2.88779696
28Delayed gross motor development (HP:0002194)2.80906720
29Congenital ichthyosiform erythroderma (HP:0007431)2.65780597
30Onion bulb formation (HP:0003383)2.65667764
31Long eyelashes (HP:0000527)2.64032494
32Confusion (HP:0001289)2.63314414
33Disproportionate tall stature (HP:0001519)2.60540222
34Genu valgum (HP:0002857)2.58430105
35Peripheral demyelination (HP:0011096)2.53240736
36Ectopic kidney (HP:0000086)2.50122502
37Hyperaldosteronism (HP:0000859)2.45259643
38Venous insufficiency (HP:0005293)2.43676706
39Anophthalmia (HP:0000528)2.43289156
40Abnormality of the aortic arch (HP:0012303)2.37015517
41Abnormal lung lobation (HP:0002101)2.32738428
42Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.29684666
43Testicular neoplasm (HP:0010788)2.29288467
44Hematochezia (HP:0002573)2.26566822
45Wormian bones (HP:0002645)2.24242043
46Abnormality of the pupil (HP:0000615)2.20862284
47Aplasia of the musculature (HP:0100854)2.19419544
48Asymmetric growth (HP:0100555)2.18412034
49Myotonia (HP:0002486)2.15645601
50Morphological abnormality of the middle ear (HP:0008609)2.14535018
51Renal salt wasting (HP:0000127)2.11538138
52Difficulty walking (HP:0002355)2.09077710
53Abnormality of the nasolacrimal system (HP:0000614)2.08090073
54Coarctation of aorta (HP:0001680)2.07421871
55Hypoplasia of the uterus (HP:0000013)2.04170470
56Decreased motor nerve conduction velocity (HP:0003431)2.03845174
57Bilateral sensorineural hearing impairment (HP:0008619)2.03116195
58Decreased circulating renin level (HP:0003351)2.02932947
59Impulsivity (HP:0100710)2.02287077
60Capillary hemangiomas (HP:0005306)10.2856995
61Flat cornea (HP:0007720)1.99587950
62Short tibia (HP:0005736)1.96534671
63Hypoplastic nipples (HP:0002557)1.91747099
64Venous abnormality (HP:0002624)1.89579972
65Mutism (HP:0002300)1.88418299
66Spontaneous hematomas (HP:0007420)1.87990189
67Small intestinal stenosis (HP:0012848)1.86805411
68Duodenal stenosis (HP:0100867)1.86805411
69Aplasia/Hypoplasia of the tibia (HP:0005772)1.86774375
70Colon cancer (HP:0003003)1.84700054
71Abnormality of secondary sexual hair (HP:0009888)1.81824274
72Abnormality of the axillary hair (HP:0100134)1.81824274
73Abnormal autonomic nervous system physiology (HP:0012332)1.80865459
74Breast hypoplasia (HP:0003187)1.80798082
75Fasciculations (HP:0002380)1.79735170
76Abnormality of the lacrimal duct (HP:0011481)1.75437405
77Depressed nasal tip (HP:0000437)1.74953031
78Hypohidrosis (HP:0000966)1.73466747
79Polycythemia (HP:0001901)1.72458064
80Annular pancreas (HP:0001734)1.72266123
81Aplasia/hypoplasia of the uterus (HP:0008684)1.69102199
82Long clavicles (HP:0000890)1.68460305
83Clubbing of toes (HP:0100760)1.66787852
84Absent eyebrow (HP:0002223)1.66748756
85Right ventricular cardiomyopathy (HP:0011663)1.64692289
86Severe Myopia (HP:0011003)1.64589409
87Fragile skin (HP:0001030)1.64307837
88Inability to walk (HP:0002540)1.63236157
89Bifid tongue (HP:0010297)1.62286591
90Abnormality of pain sensation (HP:0010832)1.61976035
91Impaired pain sensation (HP:0007328)1.61976035
92Pancreatic islet-cell hyperplasia (HP:0004510)1.60531798
93Aplasia cutis congenita (HP:0001057)1.60396336
94Cardiovascular calcification (HP:0011915)1.59052746
95Aplasia/Hypoplasia involving the musculature (HP:0001460)1.58814074
96Lymphedema (HP:0001004)1.54998794
97Neoplasm of the tracheobronchial system (HP:0100552)1.54326687
98Nasal speech (HP:0001611)1.52401189
99Hyperpituitarism (HP:0010514)1.51314372
100Sparse lateral eyebrow (HP:0005338)1.51123408

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA6.06137895
2AKT35.38221680
3DAPK24.53802602
4MST43.27450302
5BLK2.54978631
6PDGFRB2.19887863
7TIE12.09939320
8KDR10.6539707
9ICK1.85529305
10DAPK11.78842158
11PKN11.42627027
12NME11.39286522
13TAF11.36768696
14ERBB41.20717534
15FRK1.18140252
16DAPK31.14900858
17INSRR0.99811591
18INSR0.96904757
19SRC0.94701586
20EGFR0.92144650
21STK160.90195514
22VRK20.82051902
23LATS10.80794489
24NEK90.73362599
25PBK0.71919547
26PDPK10.70637371
27BUB10.70080161
28FES0.67773184
29WNK30.67651089
30CSNK1A1L0.66702543
31AURKB0.66518791
32RPS6KA20.64963909
33SMG10.64451536
34RPS6KA60.64292526
35MAP3K70.62247261
36SRPK10.62072809
37RPS6KL10.61235556
38RPS6KC10.61235556
39MKNK20.57071771
40NME20.56318564
41AKT20.54139137
42TAOK30.52544390
43STK100.50824151
44PTK60.50563567
45ZAK0.46655534
46NUAK10.43774105
47TGFBR20.43034853
48PRKCZ0.42926101
49BMPR1B0.42459964
50CSNK1G10.38776228
51MET0.38155742
52LYN0.37541092
53MAPK130.37272918
54MAP3K120.36100452
55MKNK10.35516668
56BRSK20.35334992
57DYRK20.34950050
58TYK20.34663496
59CDC70.33228177
60TRPM70.32823348
61TTK0.32668360
62SGK4940.32038589
63SGK2230.32038589
64PRKCA0.31124550
65STK380.30454347
66SGK10.30375873
67PRKCQ0.30011046
68YES10.29346934
69JAK20.29095733
70CSNK1G30.26048802
71MYLK0.25594583
72PRKCE0.25348214
73NLK0.24142580
74MAPK40.24068932
75LCK0.22790225
76RPS6KB20.22733812
77PLK10.22601159
78PIK3CA0.22512691
79PRKD20.22495179
80KIT0.22419088
81PDK10.22326199
82EPHA20.22218432
83TXK0.22125413
84CDK190.22007830
85STK30.21050366
86PLK40.20882278
87PRKD10.20843918
88TESK20.17483957
89MARK20.16778074
90MAP2K10.16664932
91HCK0.16663471
92RPS6KA10.16130229
93CSNK1G20.15785578
94RIPK10.15685320
95MTOR0.15374072
96MELK0.14989285
97STK240.13876879
98VRK10.13501112
99DYRK1B0.13458072
100FER0.12697647

Predicted pathways (KEGG)

RankGene SetZ-score
1Steroid hormone biosynthesis_Homo sapiens_hsa001408.73666126
2Folate biosynthesis_Homo sapiens_hsa007903.20983308
3* Jak-STAT signaling pathway_Homo sapiens_hsa046303.01349798
4N-Glycan biosynthesis_Homo sapiens_hsa005102.40467753
5Aldosterone synthesis and secretion_Homo sapiens_hsa049252.13280745
6Mineral absorption_Homo sapiens_hsa049782.00938638
7Ovarian steroidogenesis_Homo sapiens_hsa0491310.2679070
8Renin-angiotensin system_Homo sapiens_hsa046141.96067970
9Vitamin digestion and absorption_Homo sapiens_hsa049771.86897145
10Sphingolipid metabolism_Homo sapiens_hsa006001.85872443
11* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.68625203
12* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.54595618
13Histidine metabolism_Homo sapiens_hsa003401.25887692
14Tryptophan metabolism_Homo sapiens_hsa003801.13936881
15Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.11111574
16Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.04476074
17Salivary secretion_Homo sapiens_hsa049701.02240076
18Inositol phosphate metabolism_Homo sapiens_hsa005620.99742816
19Ras signaling pathway_Homo sapiens_hsa040140.96276231
20Axon guidance_Homo sapiens_hsa043600.93458764
21Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.88259812
22RNA polymerase_Homo sapiens_hsa030200.70905959
23Sphingolipid signaling pathway_Homo sapiens_hsa040710.68128050
24Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.66741454
25Prolactin signaling pathway_Homo sapiens_hsa049170.66483795
26Tight junction_Homo sapiens_hsa045300.66154315
27Autoimmune thyroid disease_Homo sapiens_hsa053200.65677210
28Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65499141
29Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63051482
30Mismatch repair_Homo sapiens_hsa034300.62646612
31Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.62207620
32Focal adhesion_Homo sapiens_hsa045100.61690857
33Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.61644396
34ECM-receptor interaction_Homo sapiens_hsa045120.58772021
35Metabolic pathways_Homo sapiens_hsa011000.56818716
36Renal cell carcinoma_Homo sapiens_hsa052110.52086953
37Rap1 signaling pathway_Homo sapiens_hsa040150.52068645
38Thyroid hormone synthesis_Homo sapiens_hsa049180.51874459
39Non-homologous end-joining_Homo sapiens_hsa034500.51852817
40Spliceosome_Homo sapiens_hsa030400.50993696
41TGF-beta signaling pathway_Homo sapiens_hsa043500.49498934
42Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49062543
43Fanconi anemia pathway_Homo sapiens_hsa034600.44819994
44Nucleotide excision repair_Homo sapiens_hsa034200.42159581
45HIF-1 signaling pathway_Homo sapiens_hsa040660.41657692
46Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38198228
47Small cell lung cancer_Homo sapiens_hsa052220.37748168
48* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37084949
49Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.36602624
50Homologous recombination_Homo sapiens_hsa034400.35882490
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35118253
52Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34978124
53Malaria_Homo sapiens_hsa051440.33731464
54Bladder cancer_Homo sapiens_hsa052190.33544470
55Basal transcription factors_Homo sapiens_hsa030220.31805183
56RNA transport_Homo sapiens_hsa030130.30621478
57Pathways in cancer_Homo sapiens_hsa052000.28559544
58Oxidative phosphorylation_Homo sapiens_hsa001900.28532302
59Proteasome_Homo sapiens_hsa030500.26449064
60Prostate cancer_Homo sapiens_hsa052150.25394438
61Arginine and proline metabolism_Homo sapiens_hsa003300.24697006
62Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.23881634
63Nicotine addiction_Homo sapiens_hsa050330.23116872
64Adherens junction_Homo sapiens_hsa045200.22140107
65p53 signaling pathway_Homo sapiens_hsa041150.21789892
66Huntingtons disease_Homo sapiens_hsa050160.21612774
67Transcriptional misregulation in cancer_Homo sapiens_hsa052020.20809458
68Dorso-ventral axis formation_Homo sapiens_hsa043200.20182919
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19007152
70Vitamin B6 metabolism_Homo sapiens_hsa007500.18067843
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.17039402
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.15111220
73Hippo signaling pathway_Homo sapiens_hsa043900.14935317
74Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.13810547
75Proteoglycans in cancer_Homo sapiens_hsa052050.11520691
76Phenylalanine metabolism_Homo sapiens_hsa003600.11413197
77Propanoate metabolism_Homo sapiens_hsa006400.11187249
78Olfactory transduction_Homo sapiens_hsa047400.11046655
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.10447172
80FoxO signaling pathway_Homo sapiens_hsa040680.10402481
81Insulin resistance_Homo sapiens_hsa049310.09741914
82RNA degradation_Homo sapiens_hsa030180.08908176
83Fatty acid biosynthesis_Homo sapiens_hsa000610.08402807
84GnRH signaling pathway_Homo sapiens_hsa049120.06368829
85Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.06129840
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.05222065
87Long-term depression_Homo sapiens_hsa047300.03978448
88Regulation of actin cytoskeleton_Homo sapiens_hsa048100.03756691
89Type II diabetes mellitus_Homo sapiens_hsa049300.03512694
90Platelet activation_Homo sapiens_hsa046110.03077284
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.02501533
92Cell cycle_Homo sapiens_hsa041100.02232788
93Pentose and glucuronate interconversions_Homo sapiens_hsa000400.01972928
94Endocytosis_Homo sapiens_hsa041440.01718302
95MAPK signaling pathway_Homo sapiens_hsa040100.01258035
96Cysteine and methionine metabolism_Homo sapiens_hsa002700.00961035
97Ribosome_Homo sapiens_hsa030100.00647307
98Endometrial cancer_Homo sapiens_hsa05213-0.0096004
99DNA replication_Homo sapiens_hsa03030-0.0067986
100Hepatitis B_Homo sapiens_hsa05161-0.0067614

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