CSHL1

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. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1androgen metabolic process (GO:0008209)9.80576243
2positive regulation of growth hormone secretion (GO:0060124)9.52837091
3multi-organism reproductive process (GO:0044703)9.37659789
4glucocorticoid metabolic process (GO:0008211)7.97592441
5hormone biosynthetic process (GO:0042446)7.25053634
6regulation of growth hormone secretion (GO:0060123)6.76669822
7myoblast fusion (GO:0007520)6.30123743
8JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)6.29090771
9vitamin transmembrane transport (GO:0035461)6.25780636
10response to gonadotropin (GO:0034698)6.23501103
11collecting duct development (GO:0072044)6.23352182
12positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-6.09048515
13syncytium formation (GO:0006949)5.89119014
14syncytium formation by plasma membrane fusion (GO:0000768)5.59544707
15positive regulation of protein kinase C signaling (GO:0090037)5.39429520
16endocrine hormone secretion (GO:0060986)5.20024677
17negative regulation of activin receptor signaling pathway (GO:0032926)5.14349336
18sphingoid metabolic process (GO:0046519)4.84905044
19lymphangiogenesis (GO:0001946)4.81923265
20cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.68172097
21vascular endothelial growth factor signaling pathway (GO:0038084)4.63016892
22bone morphogenesis (GO:0060349)4.32330168
23positive regulation of interferon-gamma biosynthetic process (GO:0045078)4.27316442
24regulation of interferon-gamma biosynthetic process (GO:0045072)4.19133907
25lymph vessel development (GO:0001945)4.14660225
26protein neddylation (GO:0045116)4.14466058
27T-helper 1 type immune response (GO:0042088)4.13632040
28estrogen biosynthetic process (GO:0006703)32.8001984
29myelin maintenance (GO:0043217)3.91749323
30L-alpha-amino acid transmembrane transport (GO:1902475)3.62302776
31cellular hormone metabolic process (GO:0034754)3.40414467
32interkinetic nuclear migration (GO:0022027)3.38865173
33regulation of endocrine process (GO:0044060)3.38198933
34vascular endothelial growth factor receptor signaling pathway (GO:0048010)3.38016671
35parturition (GO:0007567)3.36933483
36sprouting angiogenesis (GO:0002040)3.29074931
37JAK-STAT cascade (GO:0007259)3.27433712
38negative regulation of smooth muscle cell differentiation (GO:0051151)3.26393109
39regulation of G0 to G1 transition (GO:0070316)3.10702216
40eyelid development in camera-type eye (GO:0061029)3.09261435
41antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.07293571
42positive regulation of insulin receptor signaling pathway (GO:0046628)3.04916011
43keratinocyte development (GO:0003334)3.03575484
44sequestering of extracellular ligand from receptor (GO:0035581)3.02583762
45iron ion import (GO:0097286)2.83771394
46steroid biosynthetic process (GO:0006694)2.82663211
47ear development (GO:0043583)2.71618424
48progesterone metabolic process (GO:0042448)2.64257589
49negative regulation of cell-matrix adhesion (GO:0001953)2.62797036
50mitotic cytokinesis (GO:0000281)2.60123181
51basement membrane organization (GO:0071711)2.58555044
52transcytosis (GO:0045056)2.52946592
53positive regulation of alpha-beta T cell proliferation (GO:0046641)2.52724704
54polarized epithelial cell differentiation (GO:0030859)2.50791068
55C21-steroid hormone biosynthetic process (GO:0006700)2.44689509
56regulation of protein kinase C signaling (GO:0090036)2.43214694
57sphingosine metabolic process (GO:0006670)2.41164346
58Sertoli cell development (GO:0060009)2.36521996
59ketone biosynthetic process (GO:0042181)2.35641839
60cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.35317015
61hormone metabolic process (GO:0042445)2.30969537
62cytoskeleton-dependent cytokinesis (GO:0061640)2.29057397
63regulation of calcium ion-dependent exocytosis (GO:0017158)2.22919066
64regulation of ruffle assembly (GO:1900027)2.21804925
65negative regulation of macrophage differentiation (GO:0045650)2.18473747
66response to phenylpropanoid (GO:0080184)2.14436838
67diol metabolic process (GO:0034311)2.12137041
68regulation of activin receptor signaling pathway (GO:0032925)2.11563028
69response to inactivity (GO:0014854)2.10711220
70blood vessel morphogenesis (GO:0048514)2.08717510
71regulation of alpha-beta T cell proliferation (GO:0046640)2.02628085
72positive regulation of cellular response to insulin stimulus (GO:1900078)2.01459645
73positive regulation of T cell cytokine production (GO:0002726)2.00932699
74response to follicle-stimulating hormone (GO:0032354)15.7171309
75female pregnancy (GO:0007565)14.8257241
76regulation of gonadotropin secretion (GO:0032276)14.2180001
77estrogen metabolic process (GO:0008210)14.1173996
78glucocorticoid biosynthetic process (GO:0006704)13.5599154
79prostate gland growth (GO:0060736)13.3667638
80androgen biosynthetic process (GO:0006702)11.3176924
81multi-multicellular organism process (GO:0044706)10.7614886
82vitamin D metabolic process (GO:0042359)1.98894382
83regulation of T-helper 2 cell differentiation (GO:0045628)1.95825441
84apical protein localization (GO:0045176)1.95485598
85cellular response to gonadotropin stimulus (GO:0071371)1.94532052
86regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00431.93269363
87female genitalia development (GO:0030540)1.92490511
88thyroid hormone generation (GO:0006590)1.91873152
89Leydig cell differentiation (GO:0033327)1.91210613
90mating behavior (GO:0007617)1.91007867
91insulin-like growth factor receptor signaling pathway (GO:0048009)1.90378067
92lung vasculature development (GO:0060426)1.89978685
93response to vitamin E (GO:0033197)1.88775973
94positive regulation of digestive system process (GO:0060456)1.88224520
95negative regulation of Ras protein signal transduction (GO:0046580)1.85943538
96regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)1.83839654
97regulation of clathrin-mediated endocytosis (GO:2000369)1.82180084
98negative regulation of small GTPase mediated signal transduction (GO:0051058)1.79563497
99regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)1.79426385
100negative regulation of myoblast differentiation (GO:0045662)1.77947725

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_19032775_ChIP-ChIP_M12_Human5.87697129
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.40876297
3TRIM28_17542650_ChIP-ChIP_NTERA2_Human3.11822476
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.04795120
5BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.90619736
6CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.59950719
7AHR_22903824_ChIP-Seq_MCF-7_Human2.55524249
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.51716595
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.43097531
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.26210910
11TP53_18474530_ChIP-ChIP_U2OS_Human2.21122073
12PPAR_26484153_Chip-Seq_NCI-H1993_Human2.05963662
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human13.4441092
14ARNT_22903824_ChIP-Seq_MCF-7_Human1.99530281
15ZNF217_24962896_ChIP-Seq_MCF-7_Human1.94487772
16CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.94339086
17JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.91251833
18P63_26484246_Chip-Seq_KERATINOCYTES_Human1.79129635
19SCL_19346495_ChIP-Seq_HPC-7_Human1.77378761
20ZNF263_19887448_ChIP-Seq_K562_Human1.77306928
21VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.75336970
22ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.74410348
23ESR2_21235772_ChIP-Seq_MCF-7_Human1.68227064
24BRD4_25478319_ChIP-Seq_HGPS_Human1.62537173
25FOXO3_23340844_ChIP-Seq_DLD1_Human1.49744135
26ESR1_21235772_ChIP-Seq_MCF-7_Human1.49624745
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.42236173
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.42236173
29ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.38730522
30SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.34935539
31TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.32908556
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.29824139
33ER_23166858_ChIP-Seq_MCF-7_Human1.28350257
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.28079067
35PIAS1_25552417_ChIP-Seq_VCAP_Human1.26836714
36VDR_24787735_ChIP-Seq_THP-1_Human1.25506226
37GATA3_24758297_ChIP-Seq_MCF-7_Human1.25143374
38PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.23230271
39RXR_22108803_ChIP-Seq_LS180_Human1.22459644
40AR_21572438_ChIP-Seq_LNCaP_Human1.22440912
41IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17675373
42CBP_20019798_ChIP-Seq_JUKART_Human1.17675373
43NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.14143837
44TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.13921585
45KLF4_19829295_ChIP-Seq_ESCs_Human1.12745041
46TP63_23658742_ChIP-Seq_EP156T_Human1.08199779
47SMAD3_21741376_ChIP-Seq_HESCs_Human1.07373589
48P300_19829295_ChIP-Seq_ESCs_Human1.05420565
49EWS_26573619_Chip-Seq_HEK293_Human1.04214800
50TBX3_20139965_ChIP-Seq_MESCs_Mouse1.03865951
51TBX3_20139965_ChIP-Seq_ESCs_Mouse1.03806731
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03001953
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03001953
54RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.00778315
55SOX2_20726797_ChIP-Seq_SW620_Human1.00276089
56SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97623709
57SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.96945274
58ERG_20517297_ChIP-Seq_VCAP_Human0.96537820
59GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.96517232
60PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96209941
61GATA1_19941826_ChIP-Seq_K562_Human0.95655503
62* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.95511254
63CJUN_26792858_Chip-Seq_BT549_Human0.95292259
64JARID2_20064375_ChIP-Seq_MESCs_Mouse0.94885316
65ISL1_27105846_Chip-Seq_CPCs_Mouse0.93852337
66RUNX2_22187159_ChIP-Seq_PCA_Human0.93269762
67FUS_26573619_Chip-Seq_HEK293_Human0.93224972
68POU5F1_16518401_ChIP-PET_MESCs_Mouse0.93101522
69RNF2_27304074_Chip-Seq_ESCs_Mouse0.92704478
70EP300_21415370_ChIP-Seq_HL-1_Mouse0.91953551
71GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.89571980
72JARID2_20075857_ChIP-Seq_MESCs_Mouse0.89496670
73HIF1A_21447827_ChIP-Seq_MCF-7_Human0.89384113
74SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88748387
75SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.88506069
76CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87322738
77OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85379342
78PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85100626
79JUN_21703547_ChIP-Seq_K562_Human0.85019122
80FOXA2_19822575_ChIP-Seq_HepG2_Human0.84653263
81ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84640270
82EGR1_19374776_ChIP-ChIP_THP-1_Human0.82920886
83TAF15_26573619_Chip-Seq_HEK293_Human0.82886869
84HTT_18923047_ChIP-ChIP_STHdh_Human0.82861715
85NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.81334054
86EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.80526938
87FOXA1_27270436_Chip-Seq_PROSTATE_Human0.79499125
88FOXA1_25329375_ChIP-Seq_VCAP_Human0.79499125
89AR_19668381_ChIP-Seq_PC3_Human0.78425467
90ZFP57_27257070_Chip-Seq_ESCs_Mouse0.77567703
91MTF2_20144788_ChIP-Seq_MESCs_Mouse0.76653252
92NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75453700
93NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75453700
94UBF1/2_26484160_Chip-Seq_HMECs_Human0.75326295
95RUNX_20019798_ChIP-Seq_JUKART_Human0.74644420
96RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.74278758
97GATA4_25053715_ChIP-Seq_YYC3_Human0.74199384
98AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73589394
99JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.72917661
100IGF1R_20145208_ChIP-Seq_DFB_Human0.72755441

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology7.16413711
2MP0005379_endocrine/exocrine_gland_phen5.44563316
3MP0006276_abnormal_autonomic_nervous5.07418025
4MP0005647_abnormal_sex_gland3.87963993
5MP0010368_abnormal_lymphatic_system3.75356530
6MP0001919_abnormal_reproductive_system3.68512548
7MP0000013_abnormal_adipose_tissue3.09035551
8MP0001440_abnormal_grooming_behavior2.53712597
9MP0003959_abnormal_lean_body2.53401158
10MP0003941_abnormal_skin_development2.42724633
11MP0000003_abnormal_adipose_tissue2.42377683
12MP0004019_abnormal_vitamin_homeostasis2.27069821
13MP0006054_spinal_hemorrhage2.17301464
14MP0005389_reproductive_system_phenotype2.08674394
15MP0009697_abnormal_copulation11.8558556
16MP0002876_abnormal_thyroid_physiology1.99837870
17MP0009115_abnormal_fat_cell1.89274795
18MP0001666_abnormal_nutrient_absorption1.88217275
19MP0002653_abnormal_ependyma_morphology1.84591906
20MP0000613_abnormal_salivary_gland1.67725555
21MP0006138_congestive_heart_failure1.57277766
22MP0003936_abnormal_reproductive_system1.57211742
23MP0002971_abnormal_brown_adipose1.49638135
24MP0001879_abnormal_lymphatic_vessel1.45570983
25MP0010329_abnormal_lipoprotein_level1.45378278
26MP0000639_abnormal_adrenal_gland1.42596142
27MP0000647_abnormal_sebaceous_gland1.40201145
28MP0009703_decreased_birth_body1.38267802
29MP0002998_abnormal_bone_remodeling1.35036274
30MP0005375_adipose_tissue_phenotype1.30660453
31MP0002075_abnormal_coat/hair_pigmentati1.29182256
32MP0001756_abnormal_urination1.19239707
33MP0003453_abnormal_keratinocyte_physiol1.16577327
34MP0005023_abnormal_wound_healing1.05552936
35MP0004947_skin_inflammation1.00773984
36MP0002909_abnormal_adrenal_gland1.00769707
37MP0003136_yellow_coat_color0.90372668
38MP0005334_abnormal_fat_pad0.88016772
39MP0004085_abnormal_heartbeat0.87459006
40MP0001186_pigmentation_phenotype0.86204473
41MP0001765_abnormal_ion_homeostasis0.85013813
42MP0004185_abnormal_adipocyte_glucose0.84369836
43MP0000230_abnormal_systemic_arterial0.81573365
44MP0002557_abnormal_social/conspecific_i0.79837730
45MP0002128_abnormal_blood_circulation0.76844476
46MP0010352_gastrointestinal_tract_polyps0.76146663
47MP0000685_abnormal_immune_system0.74708969
48MP0001915_intracranial_hemorrhage0.69902611
49MP0002086_abnormal_extraembryonic_tissu0.67770293
50MP0002972_abnormal_cardiac_muscle0.66533220
51MP0003950_abnormal_plasma_membrane0.65015888
52MP0005319_abnormal_enzyme/_coenzyme0.64555897
53MP0003566_abnormal_cell_adhesion0.62432664
54MP0003567_abnormal_fetal_cardiomyocyte0.60750931
55MP0003795_abnormal_bone_structure0.60090587
56MP0001340_abnormal_eyelid_morphology0.59943880
57MP0003122_maternal_imprinting0.57580459
58MP0005409_darkened_coat_color0.57210404
59MP0003385_abnormal_body_wall0.56274035
60MP0005452_abnormal_adipose_tissue0.54368074
61MP0000681_abnormal_thyroid_gland0.54319431
62MP0004145_abnormal_muscle_electrophysio0.54256094
63MP0001119_abnormal_female_reproductive0.53974451
64MP0005636_abnormal_mineral_homeostasis0.51948237
65MP0002210_abnormal_sex_determination0.51498329
66MP0000367_abnormal_coat/_hair0.51191025
67MP0004381_abnormal_hair_follicle0.48706906
68MP0003699_abnormal_female_reproductive0.48638988
69MP0004272_abnormal_basement_membrane0.48337655
70MP0003705_abnormal_hypodermis_morpholog0.46878924
71MP0004782_abnormal_surfactant_physiolog0.44990387
72MP0003828_pulmonary_edema0.43122598
73MP0009780_abnormal_chondrocyte_physiolo0.42725430
74MP0000598_abnormal_liver_morphology0.42549941
75MP0003724_increased_susceptibility_to0.42110010
76MP0001544_abnormal_cardiovascular_syste0.41227466
77MP0005385_cardiovascular_system_phenoty0.41227466
78MP0000383_abnormal_hair_follicle0.39945336
79MP0005076_abnormal_cell_differentiation0.39617996
80MP0003953_abnormal_hormone_level0.39116623
81MP0000266_abnormal_heart_morphology0.38640079
82MP0000759_abnormal_skeletal_muscle0.35363098
83MP0003183_abnormal_peptide_metabolism0.32715981
84MP0005397_hematopoietic_system_phenotyp0.32314825
85MP0001545_abnormal_hematopoietic_system0.32314825
86MP0002295_abnormal_pulmonary_circulatio0.31833011
87MP0001929_abnormal_gametogenesis0.30050966
88MP0005666_abnormal_adipose_tissue0.28570016
89MP0000627_abnormal_mammary_gland0.27598860
90MP0002136_abnormal_kidney_physiology0.26822691
91MP0002925_abnormal_cardiovascular_devel0.26505455
92MP0001958_emphysema0.26296294
93MP0005167_abnormal_blood-brain_barrier0.26252771
94MP0003091_abnormal_cell_migration0.25345292
95MP0000747_muscle_weakness0.24586255
96MP0000653_abnormal_sex_gland0.24542874
97MP0001188_hyperpigmentation0.24393750
98MP0003191_abnormal_cellular_cholesterol0.23570231
99MP0001614_abnormal_blood_vessel0.23039376
100MP0001963_abnormal_hearing_physiology0.22614224

Predicted human phenotypes

RankGene SetZ-score
1Hypergonadotropic hypogonadism (HP:0000815)9.11261427
2Upper limb muscle weakness (HP:0003484)8.80514107
3Decreased number of large peripheral myelinated nerve fibers (HP:0003387)8.58828514
4Abnormal pupillary function (HP:0007686)6.95636639
5Muscle fibrillation (HP:0010546)6.59289198
6Nonimmune hydrops fetalis (HP:0001790)6.36245745
7Tongue fasciculations (HP:0001308)6.28109758
8Abnormal auditory evoked potentials (HP:0006958)6.20037183
9Accelerated skeletal maturation (HP:0005616)6.16843527
10Female pseudohermaphroditism (HP:0010458)5.78758719
11Anosmia (HP:0000458)5.52122159
12Back pain (HP:0003418)4.60951792
13Lower limb asymmetry (HP:0100559)4.50527187
14Gynecomastia (HP:0000771)4.22288566
15Bilateral microphthalmos (HP:0007633)4.03498193
16Abnormality of the ischium (HP:0003174)4.02466857
17Hypogonadotrophic hypogonadism (HP:0000044)4.00472904
18Basal cell carcinoma (HP:0002671)3.99934259
19Primary amenorrhea (HP:0000786)3.44893105
20Onion bulb formation (HP:0003383)3.35704274
21Long palpebral fissure (HP:0000637)3.33531919
22Abnormal pancreas size (HP:0012094)3.21109607
23Sex reversal (HP:0012245)3.17483526
24Abnormal sex determination (HP:0012244)3.17483526
25Pseudobulbar signs (HP:0002200)3.16460221
26Areflexia of lower limbs (HP:0002522)3.06017662
27Disproportionate tall stature (HP:0001519)2.99816846
28Long eyelashes (HP:0000527)2.99771235
29Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.98667606
30Testicular neoplasm (HP:0010788)2.94945869
31Genu valgum (HP:0002857)2.93805952
32Abnormality of the aortic arch (HP:0012303)2.90259788
33Venous insufficiency (HP:0005293)2.89277502
34Peripheral demyelination (HP:0011096)2.82869043
35Delayed gross motor development (HP:0002194)2.69485172
36Bilateral sensorineural hearing impairment (HP:0008619)2.67477065
37Bicornuate uterus (HP:0000813)2.67276143
38Wormian bones (HP:0002645)2.66582356
39Decreased motor nerve conduction velocity (HP:0003431)2.63333542
40Polycythemia (HP:0001901)2.57905721
41Difficulty walking (HP:0002355)2.57866480
42Asymmetric growth (HP:0100555)2.56028606
43Hyperaldosteronism (HP:0000859)2.49356741
44Venous abnormality (HP:0002624)2.37265546
45Hypoplastic nipples (HP:0002557)2.36736911
46Congenital ichthyosiform erythroderma (HP:0007431)2.33448222
47Abnormality of the pupil (HP:0000615)2.31840292
48Spontaneous hematomas (HP:0007420)2.30670056
49Arteriovenous malformation (HP:0100026)2.28833114
50Mutism (HP:0002300)2.27987069
51Hematochezia (HP:0002573)2.26586827
52Anophthalmia (HP:0000528)2.24338046
53Short tibia (HP:0005736)2.23366620
54Aplasia/Hypoplasia of the tibia (HP:0005772)2.17972986
55Flat cornea (HP:0007720)2.15156990
56Abnormality of liposaccharide metabolism (HP:0010968)2.15010439
57Abnormality of glycosphingolipid metabolism (HP:0004343)2.15010439
58Abnormality of glycolipid metabolism (HP:0010969)2.15010439
59Hypoplasia of the uterus (HP:0000013)2.13069816
60Aplasia of the musculature (HP:0100854)2.09411515
61Annular pancreas (HP:0001734)2.08536174
62Morphological abnormality of the middle ear (HP:0008609)2.07055699
63Hyporeflexia of lower limbs (HP:0002600)2.05233362
64Decreased circulating renin level (HP:0003351)2.04500883
65Fragile skin (HP:0001030)2.03644006
66Renal salt wasting (HP:0000127)2.02789240
67Capillary hemangiomas (HP:0005306)10.1376051
68Distal lower limb muscle weakness (HP:0009053)1.97442608
69Cardiovascular calcification (HP:0011915)1.96929474
70Confusion (HP:0001289)1.93142089
71Ectopic kidney (HP:0000086)1.90457766
72Abnormal autonomic nervous system physiology (HP:0012332)1.89786926
73Ulnar deviation of finger (HP:0009465)1.83049904
74Hypoplasia of the iris (HP:0007676)1.82108068
75Lymphedema (HP:0001004)1.81954284
76Coarctation of aorta (HP:0001680)1.80424417
77Severe Myopia (HP:0011003)1.75624668
78Long clavicles (HP:0000890)1.74911300
79Hypohidrosis (HP:0000966)1.74402575
80Right ventricular cardiomyopathy (HP:0011663)1.73877367
81Breast hypoplasia (HP:0003187)1.71509162
82Fasciculations (HP:0002380)1.70009226
83Sparse lateral eyebrow (HP:0005338)1.68918368
84Eczematoid dermatitis (HP:0000976)1.67562843
85Depressed nasal tip (HP:0000437)1.65705251
86Myotonia (HP:0002486)1.65403075
87Hyperpituitarism (HP:0010514)1.63826092
88Blue sclerae (HP:0000592)1.63154930
89Aortic aneurysm (HP:0004942)1.62889789
90Deep philtrum (HP:0002002)1.62842882
91Abnormality of incisor morphology (HP:0011063)1.62529670
92Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.62518393
93Midline defect of the nose (HP:0004122)1.57521618
94Abnormal lung lobation (HP:0002101)1.55986812
95Cerebral aneurysm (HP:0004944)1.55135777
96Abnormality of the axillary hair (HP:0100134)1.53508949
97Abnormality of secondary sexual hair (HP:0009888)1.53508949
98Abnormality of the nasolacrimal system (HP:0000614)1.50229575
99Kyphoscoliosis (HP:0002751)1.48887433
100Overgrowth (HP:0001548)1.47198917

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA6.56872755
2AKT35.78353363
3DAPK24.76995544
4BLK2.94379688
5ICK2.58924161
6PDGFRB2.54441411
7MST42.39808475
8KDR10.6393700
9TIE11.86444415
10DAPK11.73997626
11PKN11.58172575
12NEK91.29925274
13ERBB41.17263769
14DAPK31.10259577
15INSR1.08709272
16FRK1.06543455
17PDPK11.03677628
18SRC1.02832599
19MAP3K71.01811117
20RPS6KA20.98207757
21RIPK10.96214218
22EGFR0.91993965
23LATS10.89763319
24INSRR0.89190495
25RPS6KA60.79027375
26RPS6KC10.76672675
27RPS6KL10.76672675
28FES0.72483836
29STK380.70456225
30TYK20.66578116
31STK100.66343042
32TGFBR20.66193375
33MAPK130.64794687
34MET0.64487443
35PTK60.60524423
36YES10.57855786
37JAK20.56475245
38TRPM70.56396200
39MARK20.56281921
40AKT20.54911402
41PDK10.51804143
42PRKCZ0.50675081
43TAOK30.45965009
44SGK2230.43651952
45SGK4940.43651952
46LYN0.43266083
47PRKD10.41569304
48PRKD20.41369441
49MAP2K10.37996620
50AURKB0.37337278
51MAPK40.35371704
52SGK10.35331644
53NME10.35147155
54LCK0.34330626
55PRKCQ0.33285628
56EPHA20.33004863
57TXK0.32057520
58CDC42BPA0.31967247
59MTOR0.31630995
60DYRK1B0.31511201
61MAPK110.31451855
62MYLK0.29797522
63FER0.29301396
64PRKCA0.27868982
65HCK0.27620202
66SMG10.26290857
67BRD40.25843095
68ERBB20.24300189
69MELK0.23672583
70TAF10.23303814
71KIT0.22755086
72PTK2B0.20937125
73ERBB30.20781716
74MAP3K120.19311321
75PRKAA10.19014541
76PRKCE0.18907061
77EPHB20.18483890
78PRKAA20.17748157
79MAPK10.16789362
80CAMK40.15333478
81PIK3CA0.15096981
82ACVR1B0.14521791
83RPS6KA10.13696386
84SGK30.13674628
85ROCK10.12244964
86PINK10.12085602
87MAPK80.11298252
88MAPK30.10880700
89FGFR30.10178066
90PRKCB0.09934223
91STK30.09735673
92SGK20.09548710
93MAP3K90.09544721
94MAP2K20.07992464
95CSNK1A1L0.07979860
96CAMK2G0.07372662
97STK240.07168598
98CSF1R0.07068927
99BMPR20.07008378
100TESK20.06228686

Predicted pathways (KEGG)

RankGene SetZ-score
1Ovarian steroidogenesis_Homo sapiens_hsa049139.53001911
2Steroid hormone biosynthesis_Homo sapiens_hsa001408.21077517
3Jak-STAT signaling pathway_Homo sapiens_hsa046304.25332998
4Folate biosynthesis_Homo sapiens_hsa007902.48005222
5Aldosterone synthesis and secretion_Homo sapiens_hsa049252.32493402
6Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.18737180
7PI3K-Akt signaling pathway_Homo sapiens_hsa041512.07858866
8N-Glycan biosynthesis_Homo sapiens_hsa005102.04613960
9Sphingolipid metabolism_Homo sapiens_hsa006001.92374709
10Mineral absorption_Homo sapiens_hsa049781.88583699
11Renin-angiotensin system_Homo sapiens_hsa046141.84415147
12Histidine metabolism_Homo sapiens_hsa003401.29174133
13Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.22858624
14Vitamin digestion and absorption_Homo sapiens_hsa049771.19070733
15Salivary secretion_Homo sapiens_hsa049701.18745774
16Inositol phosphate metabolism_Homo sapiens_hsa005621.11899974
17Axon guidance_Homo sapiens_hsa043601.09757468
18Ras signaling pathway_Homo sapiens_hsa040141.04057629
19Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.03426455
20Tryptophan metabolism_Homo sapiens_hsa003801.02635318
21Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.95645791
22Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.95428607
23Focal adhesion_Homo sapiens_hsa045100.89488236
24Sphingolipid signaling pathway_Homo sapiens_hsa040710.88626418
25Prolactin signaling pathway_Homo sapiens_hsa049170.85693963
26Renal cell carcinoma_Homo sapiens_hsa052110.85172249
27Dorso-ventral axis formation_Homo sapiens_hsa043200.84510975
28ECM-receptor interaction_Homo sapiens_hsa045120.80731582
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78325128
30Phosphatidylinositol signaling system_Homo sapiens_hsa040700.77495121
31Rap1 signaling pathway_Homo sapiens_hsa040150.65812008
32Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62882132
33AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.62441710
34Malaria_Homo sapiens_hsa051440.62297667
35Thyroid hormone synthesis_Homo sapiens_hsa049180.54694545
36Autoimmune thyroid disease_Homo sapiens_hsa053200.53457708
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52285774
38Tight junction_Homo sapiens_hsa045300.52244671
39Bladder cancer_Homo sapiens_hsa052190.49047087
40HIF-1 signaling pathway_Homo sapiens_hsa040660.45998915
41Glycosaminoglycan degradation_Homo sapiens_hsa005310.44340639
42Other glycan degradation_Homo sapiens_hsa005110.42156971
43Adherens junction_Homo sapiens_hsa045200.40633127
44Endocytosis_Homo sapiens_hsa041440.40180935
45Insulin resistance_Homo sapiens_hsa049310.40092260
46Prostate cancer_Homo sapiens_hsa052150.39524556
47Type II diabetes mellitus_Homo sapiens_hsa049300.39313073
48FoxO signaling pathway_Homo sapiens_hsa040680.38676107
49Small cell lung cancer_Homo sapiens_hsa052220.38474802
50Proteoglycans in cancer_Homo sapiens_hsa052050.37811556
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.36907547
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36393044
53Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35398024
54Pathways in cancer_Homo sapiens_hsa052000.35275864
55GnRH signaling pathway_Homo sapiens_hsa049120.34490314
56Complement and coagulation cascades_Homo sapiens_hsa046100.33923127
57TGF-beta signaling pathway_Homo sapiens_hsa043500.32822841
58ErbB signaling pathway_Homo sapiens_hsa040120.30507984
59Acute myeloid leukemia_Homo sapiens_hsa052210.29274988
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.28786754
61Platelet activation_Homo sapiens_hsa046110.28717684
62Phospholipase D signaling pathway_Homo sapiens_hsa040720.28403010
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.28257614
64Chronic myeloid leukemia_Homo sapiens_hsa052200.26317221
65MAPK signaling pathway_Homo sapiens_hsa040100.25787809
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.25620356
67Endometrial cancer_Homo sapiens_hsa052130.23184732
68Hippo signaling pathway_Homo sapiens_hsa043900.22775491
69Fatty acid biosynthesis_Homo sapiens_hsa000610.22395117
70Metabolic pathways_Homo sapiens_hsa011000.21788245
71Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.20952706
72Regulation of actin cytoskeleton_Homo sapiens_hsa048100.19941711
73Choline metabolism in cancer_Homo sapiens_hsa052310.19481845
74Nicotine addiction_Homo sapiens_hsa050330.18467437
75Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.18161816
76Amoebiasis_Homo sapiens_hsa051460.18008611
77Estrogen signaling pathway_Homo sapiens_hsa049150.17838915
78Hepatitis B_Homo sapiens_hsa051610.16669010
79Leukocyte transendothelial migration_Homo sapiens_hsa046700.16302699
80Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.14479174
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.14021448
82Arginine and proline metabolism_Homo sapiens_hsa003300.13677487
83Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.12503103
84Chemokine signaling pathway_Homo sapiens_hsa040620.12000601
85Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.11816421
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.10870275
87Toxoplasmosis_Homo sapiens_hsa051450.10769214
88Gastric acid secretion_Homo sapiens_hsa049710.10344340
89MicroRNAs in cancer_Homo sapiens_hsa052060.10040007
90Glioma_Homo sapiens_hsa052140.09857609
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.08970014
92GABAergic synapse_Homo sapiens_hsa047270.08505485
93Hepatitis C_Homo sapiens_hsa051600.08403065
94NF-kappa B signaling pathway_Homo sapiens_hsa040640.08365415
95Phenylalanine metabolism_Homo sapiens_hsa003600.08003193
96Melanogenesis_Homo sapiens_hsa049160.07612790
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.07189464
98Non-small cell lung cancer_Homo sapiens_hsa052230.07017408
99African trypanosomiasis_Homo sapiens_hsa051430.06709886
100Rheumatoid arthritis_Homo sapiens_hsa053230.06696470

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