GSC2

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: Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of cytokine production involved in inflammatory response (GO:1900015)9.09204798
2somite rostral/caudal axis specification (GO:0032525)6.77772392
3maintenance of protein location in nucleus (GO:0051457)6.65107425
4regulation of response to osmotic stress (GO:0047484)6.47664433
5regulation of mammary gland epithelial cell proliferation (GO:0033599)6.47354859
6aminoglycoside antibiotic metabolic process (GO:0030647)6.40367887
7negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)5.99127918
8regulation of cilium movement (GO:0003352)5.95222952
9negative regulation of epidermis development (GO:0045683)5.80408399
10muscle organ morphogenesis (GO:0048644)5.60058074
11rRNA transcription (GO:0009303)5.35278205
12negative regulation of cell cycle G2/M phase transition (GO:1902750)5.32574227
13regulation of telomere maintenance via telomerase (GO:0032210)5.26149083
14regulation of nuclear cell cycle DNA replication (GO:0033262)5.24771885
15protein localization to kinetochore (GO:0034501)5.21827448
16negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.19376638
17histone H4-K12 acetylation (GO:0043983)5.13651921
18histone H4-K5 acetylation (GO:0043981)5.07053304
19histone H4-K8 acetylation (GO:0043982)5.07053304
20tachykinin receptor signaling pathway (GO:0007217)4.98962986
21primitive streak formation (GO:0090009)4.98088354
22regulation of MHC class I biosynthetic process (GO:0045343)4.96248689
23negative regulation of telomerase activity (GO:0051974)4.92894114
24coenzyme catabolic process (GO:0009109)4.85043375
25response to dietary excess (GO:0002021)4.82748409
26phenol-containing compound catabolic process (GO:0019336)4.71961016
27heterochromatin organization (GO:0070828)4.64006062
28mitotic sister chromatid segregation (GO:0000070)4.61246956
29negative regulation of epidermal cell differentiation (GO:0045605)4.60557194
30cytidine metabolic process (GO:0046087)4.49453183
31cytidine catabolic process (GO:0006216)4.49453183
32cytidine deamination (GO:0009972)4.49453183
33notochord development (GO:0030903)4.48231228
34hormone catabolic process (GO:0042447)4.44019020
35rRNA methylation (GO:0031167)4.32044625
36nucleoside transmembrane transport (GO:1901642)4.30497538
37branching involved in mammary gland duct morphogenesis (GO:0060444)4.19770566
38regulation of apoptotic process involved in morphogenesis (GO:1902337)4.19255566
39histone H4-K16 acetylation (GO:0043984)4.11498259
40protein localization to chromosome, centromeric region (GO:0071459)4.07410072
41ventricular system development (GO:0021591)3.99371224
42transepithelial transport (GO:0070633)3.93263156
43microtubule severing (GO:0051013)3.92412886
44positive regulation of DNA-dependent DNA replication (GO:2000105)3.91141571
45positive regulation of digestive system process (GO:0060456)3.91003687
46rRNA modification (GO:0000154)3.88136100
47chromatin assembly (GO:0031497)3.85099875
48protein polyglutamylation (GO:0018095)3.81392915
49negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.77292434
50sister chromatid segregation (GO:0000819)3.74091088
51arachidonic acid secretion (GO:0050482)3.70474331
52icosanoid secretion (GO:0032309)3.70474331
53DNA replication-dependent nucleosome organization (GO:0034723)3.70225261
54DNA replication-dependent nucleosome assembly (GO:0006335)3.70225261
55interferon-gamma production (GO:0032609)3.67206146
56regulation of microtubule-based movement (GO:0060632)3.65764209
57cellular modified amino acid catabolic process (GO:0042219)3.64690537
58DNA replication checkpoint (GO:0000076)3.64393383
59intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.61969661
60pyrimidine ribonucleoside catabolic process (GO:0046133)3.58827375
61quinone metabolic process (GO:1901661)3.56232144
62negative regulation of telomere maintenance (GO:0032205)3.51324287
63maintenance of protein localization in organelle (GO:0072595)3.44789100
64bone trabecula formation (GO:0060346)3.37028702
65mitochondrion distribution (GO:0048311)3.35224323
66cardiovascular system development (GO:0072358)3.32566716
67regulation of translation in response to stress (GO:0043555)3.32286979
68pre-miRNA processing (GO:0031054)3.31813002
69granulocyte differentiation (GO:0030851)3.29145619
70negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.26568562
71intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)3.26086061
72vitamin A metabolic process (GO:0006776)3.23167269
73proline transport (GO:0015824)3.22963637
74anterior/posterior axis specification (GO:0009948)3.21915578
75regulation of telomerase activity (GO:0051972)3.19063664
76regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.15070530
77detection of temperature stimulus (GO:0016048)3.12390280
78regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.10097211
79regulation of posttranscriptional gene silencing (GO:0060147)3.09599810
80regulation of gene silencing by miRNA (GO:0060964)3.09599810
81regulation of gene silencing by RNA (GO:0060966)3.09599810
82trophectodermal cell differentiation (GO:0001829)3.09518299
83cell migration involved in gastrulation (GO:0042074)3.09396039
84regulation of telomere maintenance (GO:0032204)3.08936151
85epoxygenase P450 pathway (GO:0019373)3.08869188
86L-ascorbic acid metabolic process (GO:0019852)3.08343212
87retinoic acid receptor signaling pathway (GO:0048384)3.06930461
88cell fate commitment involved in formation of primary germ layer (GO:0060795)3.06552652
89nucleoside transport (GO:0015858)3.05574370
90positive regulation of developmental pigmentation (GO:0048087)3.01186390
91negative regulation of peptidyl-serine phosphorylation (GO:0033137)3.00586508
92DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.00023203
93fatty acid derivative transport (GO:1901571)2.97853054
94icosanoid transport (GO:0071715)2.97853054
95histone arginine methylation (GO:0034969)2.97631643
96negative regulation of interleukin-2 production (GO:0032703)2.97373964
97intestinal epithelial cell development (GO:0060576)2.96560365
98polyketide metabolic process (GO:0030638)10.0137592
99doxorubicin metabolic process (GO:0044598)10.0137592
100daunorubicin metabolic process (GO:0044597)10.0137592

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.92898502
2KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.92898502
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.92898502
4BP1_19119308_ChIP-ChIP_Hs578T_Human6.51064006
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.48846904
6NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.48204828
7TP63_19390658_ChIP-ChIP_HaCaT_Human3.41375719
8SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.18312336
9SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.08603284
10SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.99683904
11TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.81866094
12POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.77344631
13TCF3_18692474_ChIP-Seq_MESCs_Mouse2.73039712
14TCF3_18692474_ChIP-Seq_MEFs_Mouse2.33885070
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.29484873
16E2F7_22180533_ChIP-Seq_HELA_Human2.27242435
17NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.17644199
18RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.13539450
19NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.04064963
20ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.96298623
21ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.91335483
22POU5F1_16518401_ChIP-PET_MESCs_Mouse1.90451443
23IRF1_19129219_ChIP-ChIP_H3396_Human1.87951911
24KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.80114594
25NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.79745085
26HIF1A_21447827_ChIP-Seq_MCF-7_Human1.74980530
27TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.69567746
28NANOG_18692474_ChIP-Seq_MESCs_Mouse1.64195216
29PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.61549462
30SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.57990092
31STAT3_1855785_ChIP-Seq_MESCs_Mouse1.57848946
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.54247900
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.54018526
34POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.53694038
35E2F1_17053090_ChIP-ChIP_MCF-7_Human1.53688894
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.53396141
37POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.53365808
38ZFP281_27345836_Chip-Seq_ESCs_Mouse1.50539018
39FOXM1_23109430_ChIP-Seq_U2OS_Human1.50373942
40E2F4_17652178_ChIP-ChIP_JURKAT_Human1.47529512
41NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47094647
42STAT6_21828071_ChIP-Seq_BEAS2B_Human1.44783268
43ZFP281_18757296_ChIP-ChIP_E14_Mouse1.44497121
44SOX2_18692474_ChIP-Seq_MESCs_Mouse1.31426293
45OCT4_18692474_ChIP-Seq_MEFs_Mouse1.25019173
46NANOG_16518401_ChIP-PET_MESCs_Mouse1.24290548
47RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.23922291
48CDX2_20551321_ChIP-Seq_CACO-2_Human1.22881211
49RING1B_27294783_Chip-Seq_NPCs_Mouse1.17699649
50RNF2_27304074_Chip-Seq_NSC_Mouse1.17524685
51YY1_21170310_ChIP-Seq_MESCs_Mouse1.14679264
52TBX3_20139965_ChIP-Seq_ESCs_Mouse1.14393827
53TBX3_20139965_ChIP-Seq_MESCs_Mouse1.13283378
54* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11247823
55SOX2_18692474_ChIP-Seq_MEFs_Mouse1.05701290
56TP53_22127205_ChIP-Seq_IMR90_Human1.04889029
57STAT3_18555785_ChIP-Seq_MESCs_Mouse1.02721433
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00002177
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.98658215
60KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98582439
61NANOG_18555785_ChIP-Seq_MESCs_Mouse0.98166133
62KDM2B_26808549_Chip-Seq_K562_Human0.98016530
63TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.95389477
64WT1_19549856_ChIP-ChIP_CCG9911_Human0.94742195
65IKZF1_21737484_ChIP-ChIP_HCT116_Human0.94203434
66NANOG_21062744_ChIP-ChIP_HESCs_Human0.93954501
67STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93754978
68POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.93323787
69POU5F1_16153702_ChIP-ChIP_HESCs_Human0.93302322
70ELK4_26923725_Chip-Seq_MESODERM_Mouse0.93065293
71SOX2_18555785_ChIP-Seq_MESCs_Mouse0.92506211
72SMC4_20622854_ChIP-Seq_HELA_Human0.90900657
73TP53_20018659_ChIP-ChIP_R1E_Mouse0.88432483
74GATA1_26923725_Chip-Seq_HPCs_Mouse0.87131929
75MYC_19079543_ChIP-ChIP_MESCs_Mouse0.85534727
76TCF7_22412390_ChIP-Seq_EML_Mouse0.82846630
77SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.81483996
78YY1_22570637_ChIP-Seq_MALME-3M_Human0.81020406
79ESET_19884257_ChIP-Seq_ESCs_Mouse0.79246915
80PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78197674
81NANOG_16153702_ChIP-ChIP_HESCs_Human0.77640741
82SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.77059290
83KAP1_27257070_Chip-Seq_ESCs_Mouse0.77042073
84BCOR_27268052_Chip-Seq_Bcells_Human0.74939202
85LXR_22292898_ChIP-Seq_THP-1_Human0.74410896
86NOTCH1_21737748_ChIP-Seq_TLL_Human0.73619643
87SPI1_26923725_Chip-Seq_HPCs_Mouse0.71876268
88CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.71694038
89VDR_22108803_ChIP-Seq_LS180_Human0.71119485
90CTCF_20526341_ChIP-Seq_ESCs_Human0.70343187
91* SOX3_22085726_ChIP-Seq_NPCs_Mouse0.69738449
92DPY_21335234_ChIP-Seq_ESCs_Mouse0.68700867
93RACK7_27058665_Chip-Seq_MCF-7_Human0.68401554
94CTCF_21964334_Chip-Seq_Bcells_Human0.68065500
95P68_20966046_ChIP-Seq_HELA_Human0.67741987
96SMAD3_21741376_ChIP-Seq_HESCs_Human0.67342396
97* NCOR1_26117541_ChIP-Seq_K562_Human0.67339468
98POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.67066026
99EOMES_21245162_ChIP-Seq_HESCs_Human0.67011324
100CSB_26484114_Chip-Seq_FIBROBLAST_Human0.65723180

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation5.59001358
2MP0006292_abnormal_olfactory_placode5.29819613
3MP0005257_abnormal_intraocular_pressure4.17833490
4MP0002254_reproductive_system_inflammat3.85247707
5MP0004264_abnormal_extraembryonic_tissu3.76764786
6MP0003890_abnormal_embryonic-extraembry3.68014827
7MP0005394_taste/olfaction_phenotype3.65503464
8MP0005499_abnormal_olfactory_system3.65503464
9MP0004858_abnormal_nervous_system2.84931378
10MP0008057_abnormal_DNA_replication2.75202298
11MP0002332_abnormal_exercise_endurance2.69061382
12MP0005075_abnormal_melanosome_morpholog2.67775659
13MP0003122_maternal_imprinting2.62230932
14MP0002653_abnormal_ependyma_morphology2.37505152
15MP0003121_genomic_imprinting2.20219116
16MP0010030_abnormal_orbit_morphology2.01520101
17MP0005410_abnormal_fertilization1.92132662
18MP0006035_abnormal_mitochondrial_morpho1.91956665
19MP0000678_abnormal_parathyroid_gland1.90029689
20MP0003705_abnormal_hypodermis_morpholog1.81080601
21MP0004957_abnormal_blastocyst_morpholog1.78291159
22MP0003938_abnormal_ear_development1.74969486
23MP0003183_abnormal_peptide_metabolism1.74271992
24MP0001293_anophthalmia1.66592959
25MP0002277_abnormal_respiratory_mucosa1.65530524
26MP0008961_abnormal_basal_metabolism1.57168411
27MP0008789_abnormal_olfactory_epithelium1.51820370
28MP0010352_gastrointestinal_tract_polyps1.49643496
29MP0001672_abnormal_embryogenesis/_devel1.45342845
30MP0005380_embryogenesis_phenotype1.45342845
31MP0000762_abnormal_tongue_morphology1.45217365
32MP0002127_abnormal_cardiovascular_syste1.45036706
33MP0000049_abnormal_middle_ear1.38829885
34MP0002932_abnormal_joint_morphology1.35843467
35MP0003123_paternal_imprinting1.34367695
36MP0001348_abnormal_lacrimal_gland1.33621011
37MP0002088_abnormal_embryonic_growth/wei1.33184783
38MP0003984_embryonic_growth_retardation1.31404153
39MP0002233_abnormal_nose_morphology1.30782036
40MP0004043_abnormal_pH_regulation1.29724526
41MP0004133_heterotaxia1.29699930
42MP0003283_abnormal_digestive_organ1.28089956
43MP0006082_CNS_inflammation1.25754457
44MP0005253_abnormal_eye_physiology1.24052006
45MP0002092_abnormal_eye_morphology1.23435469
46MP0003787_abnormal_imprinting1.23324561
47MP0005391_vision/eye_phenotype1.19169818
48MP0005551_abnormal_eye_electrophysiolog1.15785041
49MP0002085_abnormal_embryonic_tissue1.10754043
50MP0003755_abnormal_palate_morphology1.10305850
51MP0002114_abnormal_axial_skeleton1.08602200
52MP0003935_abnormal_craniofacial_develop1.08325767
53MP0002751_abnormal_autonomic_nervous1.07265580
54MP0003119_abnormal_digestive_system1.06399962
55MP0000350_abnormal_cell_proliferation1.05718447
56MP0006072_abnormal_retinal_apoptosis1.05258948
57MP0005248_abnormal_Harderian_gland1.04756200
58MP0001849_ear_inflammation1.04394465
59MP0000432_abnormal_head_morphology1.02843877
60MP0003137_abnormal_impulse_conducting1.02004452
61MP0004381_abnormal_hair_follicle0.99261014
62MP0005266_abnormal_metabolism0.99162129
63MP0000428_abnormal_craniofacial_morphol0.97014547
64MP0002084_abnormal_developmental_patter0.95228331
65MP0002086_abnormal_extraembryonic_tissu0.94694569
66MP0002752_abnormal_somatic_nervous0.94001871
67MP0003950_abnormal_plasma_membrane0.92334361
68MP0003937_abnormal_limbs/digits/tail_de0.91557234
69MP0009046_muscle_twitch0.91554664
70MP0008770_decreased_survivor_rate0.90891478
71MP0003315_abnormal_perineum_morphology0.90789285
72MP0002970_abnormal_white_adipose0.88381638
73MP0003077_abnormal_cell_cycle0.87650656
74MP0002249_abnormal_larynx_morphology0.82959369
75MP0010368_abnormal_lymphatic_system0.82556643
76MP0004197_abnormal_fetal_growth/weight/0.81438639
77MP0005195_abnormal_posterior_eye0.80983701
78MP0003698_abnormal_male_reproductive0.79356170
79MP0002116_abnormal_craniofacial_bone0.78294079
80MP0004272_abnormal_basement_membrane0.78016673
81MP0001486_abnormal_startle_reflex0.75267821
82MP0003861_abnormal_nervous_system0.74642858
83MP0005623_abnormal_meninges_morphology0.73913610
84MP0000955_abnormal_spinal_cord0.72033043
85MP0001286_abnormal_eye_development0.71874542
86MP0001984_abnormal_olfaction0.68525331
87MP0002132_abnormal_respiratory_system0.68058626
88MP0002269_muscular_atrophy0.67824273
89MP0004270_analgesia0.67731160
90MP0009703_decreased_birth_body0.67662062
91MP0002396_abnormal_hematopoietic_system0.66954988
92MP0008872_abnormal_physiological_respon0.66853646
93MP0005508_abnormal_skeleton_morphology0.65342981
94MP0001730_embryonic_growth_arrest0.64504196
95MP0002081_perinatal_lethality0.64035004
96MP0003136_yellow_coat_color0.63829793
97MP0010094_abnormal_chromosome_stability0.61716844
98MP0000313_abnormal_cell_death0.60544096
99MP0002925_abnormal_cardiovascular_devel0.60179580
100MP0001324_abnormal_eye_pigmentation0.59694876

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.03932046
2Hypochromic microcytic anemia (HP:0004840)5.37736766
3Abnormality of the lower motor neuron (HP:0002366)5.14796912
4Rib fusion (HP:0000902)5.03127571
5Hepatoblastoma (HP:0002884)4.71420771
6Multiple enchondromatosis (HP:0005701)4.26294014
7Ependymoma (HP:0002888)3.83528662
8Partial duplication of thumb phalanx (HP:0009944)3.78854065
9Anomalous pulmonary venous return (HP:0010772)3.75998845
10Rectal fistula (HP:0100590)3.64786497
11Rectovaginal fistula (HP:0000143)3.64786497
12Nephroblastoma (Wilms tumor) (HP:0002667)3.61289712
13Chromosomal breakage induced by crosslinking agents (HP:0003221)3.55432977
14Horizontal nystagmus (HP:0000666)3.50710212
15Pendular nystagmus (HP:0012043)3.44462873
16Bifid tongue (HP:0010297)3.42058276
17Neoplasm of striated muscle (HP:0009728)3.38157168
18Hypoplasia of the fovea (HP:0007750)3.32575040
19Aplasia/Hypoplasia of the fovea (HP:0008060)3.32575040
20Embryonal renal neoplasm (HP:0011794)3.32536920
21Hyperinsulinemic hypoglycemia (HP:0000825)3.32305720
22Partial duplication of the phalanx of hand (HP:0009999)3.28367691
23Intestinal fistula (HP:0100819)3.18195335
24Rhabdomyosarcoma (HP:0002859)3.17879858
25Abnormality of the pulmonary veins (HP:0011718)3.17369436
26Vaginal fistula (HP:0004320)3.16347581
27Fused cervical vertebrae (HP:0002949)3.08322746
28Sensory axonal neuropathy (HP:0003390)3.07384253
29Testicular atrophy (HP:0000029)3.06944103
30Hyperventilation (HP:0002883)3.05891416
31Astrocytoma (HP:0009592)2.83281925
32Abnormality of the astrocytes (HP:0100707)2.83281925
33Aplasia/hypoplasia of the humerus (HP:0006507)2.81957092
34Abnormality of the salivary glands (HP:0010286)2.81873474
35Chromsome breakage (HP:0040012)2.81310188
36Abnormality of the phalanges of the hallux (HP:0010057)2.79097829
37Amyotrophic lateral sclerosis (HP:0007354)2.75352999
38Short humerus (HP:0005792)2.74706499
39Dyschromatopsia (HP:0007641)2.74110489
40Supernumerary spleens (HP:0009799)2.73489496
41Periauricular skin pits (HP:0100277)2.72165620
42Preauricular pit (HP:0004467)2.72165620
43Nasolacrimal duct obstruction (HP:0000579)2.67521004
44Abnormal lung lobation (HP:0002101)2.65698522
45Upper limb muscle weakness (HP:0003484)2.59930845
46Generalized hypotonia (HP:0001290)2.59211603
47Concave nail (HP:0001598)2.53532467
48Abnormality of the fovea (HP:0000493)2.45265934
49Large earlobe (HP:0009748)2.42683743
50Preauricular skin tag (HP:0000384)2.41973207
51Ragged-red muscle fibers (HP:0003200)2.38752069
52Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.37083984
53Aplasia/Hypoplasia of the macula (HP:0008059)2.36788428
54Reduced antithrombin III activity (HP:0001976)2.35922288
55Trismus (HP:0000211)2.30621692
56Villous atrophy (HP:0011473)2.27174212
57Abnormality of small intestinal villus morphology (HP:0011472)2.27174212
58Nasal polyposis (HP:0100582)2.23905213
59Impulsivity (HP:0100710)2.22323449
60Congenital stationary night blindness (HP:0007642)2.16727926
61Abnormal cartilage morphology (HP:0002763)2.15898644
62Abnormality of the pubic bones (HP:0003172)2.14028922
63Skin pits (HP:0100276)2.13704797
64Aplasia/Hypoplasia affecting the retina (HP:0008061)2.12964317
65Aplasia/Hypoplasia of the sacrum (HP:0008517)2.12345809
66Abnormality of the distal phalanx of the thumb (HP:0009617)2.12306119
67Aplasia/Hypoplasia of the uvula (HP:0010293)2.11476600
68Hypochromic anemia (HP:0001931)2.10780907
69Skin tags (HP:0010609)2.10074387
70Duplication of thumb phalanx (HP:0009942)2.09494177
71Shawl scrotum (HP:0000049)2.08051920
72Prominent occiput (HP:0000269)2.07077814
73Meckel diverticulum (HP:0002245)2.06947907
74Partial agenesis of the corpus callosum (HP:0001338)2.06488940
75Short 5th finger (HP:0009237)2.05900153
76Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.04532252
77Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04145063
78Abnormality of the lacrimal duct (HP:0011481)2.03919026
79Hypopigmentation of the fundus (HP:0007894)2.02141822
803-Methylglutaconic aciduria (HP:0003535)2.01496066
81Abnormality of the ileum (HP:0001549)2.01357829
82Progressive muscle weakness (HP:0003323)2.00616549
83Neoplasm of the heart (HP:0100544)1.99231262
84Tetraplegia (HP:0002445)1.98780548
85Tongue fasciculations (HP:0001308)1.97659621
86Abnormality of the musculature of the hand (HP:0001421)1.95876857
87Vertebral fusion (HP:0002948)1.95193600
88Pseudobulbar signs (HP:0002200)1.92819071
89Upper motor neuron abnormality (HP:0002127)1.92770254
90Abnormality of the corticospinal tract (HP:0002492)1.92451160
91Glioma (HP:0009733)1.91539998
92Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.91471064
93Hand muscle atrophy (HP:0009130)1.91314191
94Renal duplication (HP:0000075)1.91157990
95Febrile seizures (HP:0002373)1.89446091
96Microretrognathia (HP:0000308)1.85471505
97Difficulty running (HP:0009046)1.82991439
98Abnormality of chromosome segregation (HP:0002916)1.81207818
99Malignant neoplasm of the central nervous system (HP:0100836)1.80825369
100Combined immunodeficiency (HP:0005387)1.79034578

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK127.21613735
2GRK55.46039833
3GRK64.53444193
4ERN13.72816747
5GRK13.63629810
6ADRBK23.29843238
7PBK3.28221565
8TYRO32.53441229
9TTK2.43858111
10CSF1R2.40466472
11MATK2.37906409
12STK102.28348129
13MAPK72.16903996
14GRK72.05445990
15TGFBR22.04816953
16NTRK11.93640866
17MARK21.87724359
18BLK1.81180233
19MOS1.75161549
20WNK11.67608345
21ICK1.62899293
22PRKG21.39286524
23CDK71.35165499
24CAMK41.32260498
25ADRBK11.17954386
26HIPK21.15753131
27MAP3K101.14209920
28CHEK21.12337346
29EPHA21.03496760
30MAP2K41.00548451
31AKT30.93457154
32ALK0.89817137
33CSK0.87505874
34PAK40.84496932
35PLK10.81334151
36MAP3K70.75610700
37PAK30.73707466
38PRKD20.73280034
39MKNK20.70463885
40AKT20.68596026
41PAK60.66025720
42LATS20.64788592
43CHEK10.62027542
44MAP2K60.61854798
45PRKD30.60733780
46PDK40.56739433
47PDK30.56739433
48EIF2AK20.55109641
49CDK190.55000580
50DYRK1B0.50100139
51MAP3K90.46720413
52MAPK120.46660709
53NTRK20.45467530
54MTOR0.44534355
55STK380.42950896
56FGFR30.42051630
57DMPK0.41056980
58NEK10.40555359
59CDK150.39167908
60DDR20.38603979
61PAK10.36467308
62CSNK1E0.35720652
63YES10.35016408
64PDGFRA0.33505836
65ERBB20.33410758
66CDK180.33325323
67BUB10.32720334
68TAOK10.32578926
69CDK140.32573696
70CDK11A0.32514569
71PRKCI0.31914728
72CDK80.31571128
73NEK20.30412953
74CDK20.30319052
75TNK20.30223838
76IGF1R0.29325245
77DYRK1A0.29324994
78OXSR10.27474538
79PRPF4B0.26902566
80PDK20.26728789
81PRKCD0.26601051
82MAPK100.26447547
83ATM0.25712975
84PTK20.24612907
85AURKA0.24408620
86RIPK10.24270673
87PRKAA10.24018140
88SIK20.21714213
89GSK3A0.20830579
90CDC70.20353018
91RAF10.20229197
92UHMK10.19251938
93GSK3B0.19212300
94BMX0.18365444
95PRKCG0.18088975
96INSRR0.18036275
97INSR0.17787654
98CDK10.16643652
99TNIK0.16635813
100CDC42BPA0.16633297

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.87130380
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006036.46637588
3Fructose and mannose metabolism_Homo sapiens_hsa000513.63194867
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.03624293
5Linoleic acid metabolism_Homo sapiens_hsa005912.77437393
6alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.66761758
7Arachidonic acid metabolism_Homo sapiens_hsa005902.62064399
8Galactose metabolism_Homo sapiens_hsa000522.33854886
9Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.09401594
10Pentose and glucuronate interconversions_Homo sapiens_hsa000401.85169103
11Taste transduction_Homo sapiens_hsa047421.50049896
12GABAergic synapse_Homo sapiens_hsa047271.47386505
13Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.45748832
14Fanconi anemia pathway_Homo sapiens_hsa034601.33670366
15Ether lipid metabolism_Homo sapiens_hsa005651.33401668
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.31418161
17Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.20627997
18Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.17335703
19Thyroid cancer_Homo sapiens_hsa052161.16162582
20mRNA surveillance pathway_Homo sapiens_hsa030151.15283102
21mTOR signaling pathway_Homo sapiens_hsa041501.13260639
22Phospholipase D signaling pathway_Homo sapiens_hsa040721.13067265
23Inositol phosphate metabolism_Homo sapiens_hsa005621.10746267
24Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.09438518
25Serotonergic synapse_Homo sapiens_hsa047261.08988713
26RNA transport_Homo sapiens_hsa030131.05568028
27Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.00323423
28Glutamatergic synapse_Homo sapiens_hsa047240.99604951
29Regulation of actin cytoskeleton_Homo sapiens_hsa048100.97994547
30Central carbon metabolism in cancer_Homo sapiens_hsa052300.97706431
31Glycosaminoglycan degradation_Homo sapiens_hsa005310.94287711
32Ovarian steroidogenesis_Homo sapiens_hsa049130.93126888
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.90927461
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.85647151
35Sulfur relay system_Homo sapiens_hsa041220.85121137
36Other glycan degradation_Homo sapiens_hsa005110.83767618
37Choline metabolism in cancer_Homo sapiens_hsa052310.82981353
38Basal cell carcinoma_Homo sapiens_hsa052170.82694184
39Hedgehog signaling pathway_Homo sapiens_hsa043400.79543110
40Pathways in cancer_Homo sapiens_hsa052000.77822403
41RNA degradation_Homo sapiens_hsa030180.77421985
42Glycerophospholipid metabolism_Homo sapiens_hsa005640.77189273
43Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77165762
44Phototransduction_Homo sapiens_hsa047440.76131001
45Chemical carcinogenesis_Homo sapiens_hsa052040.72875061
46Transcriptional misregulation in cancer_Homo sapiens_hsa052020.70601728
47Pentose phosphate pathway_Homo sapiens_hsa000300.69889288
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69851858
49Thyroid hormone signaling pathway_Homo sapiens_hsa049190.69691124
50MicroRNAs in cancer_Homo sapiens_hsa052060.69462095
51Hippo signaling pathway_Homo sapiens_hsa043900.68677756
52Cell cycle_Homo sapiens_hsa041100.64314743
53Biosynthesis of amino acids_Homo sapiens_hsa012300.63800131
54Glycerolipid metabolism_Homo sapiens_hsa005610.63578524
55Nicotine addiction_Homo sapiens_hsa050330.63060549
56Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62984443
57Long-term depression_Homo sapiens_hsa047300.60941819
58Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60481902
59Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.58651800
60Ras signaling pathway_Homo sapiens_hsa040140.57717364
61Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.56682693
62Retinol metabolism_Homo sapiens_hsa008300.55860546
63Rap1 signaling pathway_Homo sapiens_hsa040150.54364724
64Wnt signaling pathway_Homo sapiens_hsa043100.53735140
65Tight junction_Homo sapiens_hsa045300.53686912
66Acute myeloid leukemia_Homo sapiens_hsa052210.53398293
67Mismatch repair_Homo sapiens_hsa034300.51195013
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50863125
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50010483
70Vascular smooth muscle contraction_Homo sapiens_hsa042700.49452288
71Salivary secretion_Homo sapiens_hsa049700.49139091
72African trypanosomiasis_Homo sapiens_hsa051430.48029034
73Notch signaling pathway_Homo sapiens_hsa043300.46249347
74Dorso-ventral axis formation_Homo sapiens_hsa043200.45978238
75Calcium signaling pathway_Homo sapiens_hsa040200.43871991
76PI3K-Akt signaling pathway_Homo sapiens_hsa041510.43845000
77Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.42939390
78Tryptophan metabolism_Homo sapiens_hsa003800.42781144
79Axon guidance_Homo sapiens_hsa043600.41624746
80Non-homologous end-joining_Homo sapiens_hsa034500.39617750
81cAMP signaling pathway_Homo sapiens_hsa040240.39119131
82VEGF signaling pathway_Homo sapiens_hsa043700.37851424
83Non-small cell lung cancer_Homo sapiens_hsa052230.37384909
84Complement and coagulation cascades_Homo sapiens_hsa046100.37175703
85Homologous recombination_Homo sapiens_hsa034400.36508045
86MAPK signaling pathway_Homo sapiens_hsa040100.35819688
87Bladder cancer_Homo sapiens_hsa052190.35587087
88ErbB signaling pathway_Homo sapiens_hsa040120.34525525
89Morphine addiction_Homo sapiens_hsa050320.33968336
90Dilated cardiomyopathy_Homo sapiens_hsa054140.32999977
91Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.32722565
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30736566
93DNA replication_Homo sapiens_hsa030300.30332809
94Cardiac muscle contraction_Homo sapiens_hsa042600.28626471
95Sphingolipid signaling pathway_Homo sapiens_hsa040710.25441715
96Fatty acid biosynthesis_Homo sapiens_hsa000610.24734658
97Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.24697666
98Carbon metabolism_Homo sapiens_hsa012000.24164827
99Oxytocin signaling pathway_Homo sapiens_hsa049210.23395333
100Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.23180159

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