ZNF513

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 possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome reaction (GO:0007340)8.37151852
2fusion of sperm to egg plasma membrane (GO:0007342)8.07301663
3sperm motility (GO:0030317)7.96633251
4sperm capacitation (GO:0048240)7.79696469
5phosphatidylethanolamine biosynthetic process (GO:0006646)6.49765583
6chromosome condensation (GO:0030261)6.48368813
7DNA packaging (GO:0006323)6.07436495
8single strand break repair (GO:0000012)6.04480376
9phosphatidylethanolamine metabolic process (GO:0046337)6.02677511
10plasma membrane fusion (GO:0045026)5.91922332
11spermatid development (GO:0007286)5.68912329
12multicellular organism reproduction (GO:0032504)5.42955023
13response to pheromone (GO:0019236)5.35481862
14sexual reproduction (GO:0019953)5.33784580
15reproduction (GO:0000003)5.17692182
16negative regulation of inclusion body assembly (GO:0090084)5.12336256
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.09700679
18spermatid nucleus differentiation (GO:0007289)5.03996541
19sperm-egg recognition (GO:0035036)4.94367391
20regulation of ARF GTPase activity (GO:0032312)4.74814590
21microtubule depolymerization (GO:0007019)4.64122085
22microtubule severing (GO:0051013)4.61375563
23rRNA methylation (GO:0031167)4.56652406
24positive regulation of Rab GTPase activity (GO:0032851)4.50853971
25regulation of Rab GTPase activity (GO:0032313)4.50853971
26RNA destabilization (GO:0050779)4.45500642
27binding of sperm to zona pellucida (GO:0007339)4.45009295
28response to acidic pH (GO:0010447)4.32905860
29calcium ion-dependent exocytosis (GO:0017156)4.23359740
30spermatogenesis (GO:0007283)4.20854917
31cell-cell recognition (GO:0009988)4.19868524
32male gamete generation (GO:0048232)4.18508639
33protein targeting to Golgi (GO:0000042)4.11497797
34regulation of T-helper 2 cell differentiation (GO:0045628)4.09197810
35retrograde transport, vesicle recycling within Golgi (GO:0000301)4.02674257
36chromatin silencing (GO:0006342)4.01170402
37protein polyglutamylation (GO:0018095)3.92638284
38establishment of protein localization to Golgi (GO:0072600)3.83278467
39regulation of inclusion body assembly (GO:0090083)3.80945707
40gamete generation (GO:0007276)3.78257780
41negative regulation of Rho protein signal transduction (GO:0035024)3.63215154
42microtubule polymerization or depolymerization (GO:0031109)3.59343798
43cellular response to pH (GO:0071467)3.55201980
44histone H4 deacetylation (GO:0070933)3.52409865
45cellular ketone body metabolic process (GO:0046950)3.43639832
46rRNA modification (GO:0000154)3.39263907
47cell wall macromolecule catabolic process (GO:0016998)3.38684486
48axonemal dynein complex assembly (GO:0070286)3.38046207
49histone H3-K9 demethylation (GO:0033169)3.34875693
50germ cell development (GO:0007281)3.34088887
51negative regulation of granulocyte differentiation (GO:0030853)3.32786225
52cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.31347384
53histone H3 deacetylation (GO:0070932)3.22079654
54cellular process involved in reproduction in multicellular organism (GO:0022412)3.21395944
55single fertilization (GO:0007338)3.21309543
56cell-cell junction maintenance (GO:0045217)3.20671176
57protein localization to Golgi apparatus (GO:0034067)3.18495118
58motile cilium assembly (GO:0044458)3.15098586
59cilium or flagellum-dependent cell motility (GO:0001539)3.13318803
60regulation of transcription involved in cell fate commitment (GO:0060850)3.12452112
61negative regulation of histone methylation (GO:0031061)3.11444985
62multicellular organismal reproductive process (GO:0048609)3.08705929
63cell wall macromolecule metabolic process (GO:0044036)3.01386210
64membrane protein intracellular domain proteolysis (GO:0031293)2.93841969
65cerebral cortex neuron differentiation (GO:0021895)2.93750986
66tooth mineralization (GO:0034505)2.90223091
67ketone body metabolic process (GO:1902224)2.87949774
68regulation of cilium movement (GO:0003352)2.87612800
69positive regulation of protein kinase C signaling (GO:0090037)2.87498003
70receptor recycling (GO:0001881)2.87244970
71negative regulation of gene expression, epigenetic (GO:0045814)2.87168211
72mast cell activation involved in immune response (GO:0002279)2.85960055
73mast cell degranulation (GO:0043303)2.85960055
74positive regulation of type 2 immune response (GO:0002830)2.85719738
75positive regulation of myotube differentiation (GO:0010831)2.83459334
76actin filament capping (GO:0051693)2.83322778
77regulation of cilium assembly (GO:1902017)2.82837542
78mannose metabolic process (GO:0006013)2.82681668
79macrophage activation involved in immune response (GO:0002281)2.81158788
80regulation of histone H3-K27 methylation (GO:0061085)2.77568704
81negative regulation of erythrocyte differentiation (GO:0045647)2.77482321
82centriole assembly (GO:0098534)2.77024015
83homeostasis of number of cells within a tissue (GO:0048873)2.73077182
84peptide catabolic process (GO:0043171)2.71688451
85NAD biosynthetic process (GO:0009435)2.61662420
86phosphatidylcholine biosynthetic process (GO:0006656)2.61425809
87positive regulation of histone deacetylation (GO:0031065)2.60243236
88fertilization (GO:0009566)2.57767405
89NIK/NF-kappaB signaling (GO:0038061)2.56541179
90organic cation transport (GO:0015695)2.54518676
91cranial nerve morphogenesis (GO:0021602)2.52127971
92regulation of microtubule-based movement (GO:0060632)2.51338201
93nucleus organization (GO:0006997)2.49396943
94adenosine receptor signaling pathway (GO:0001973)2.45430921
95epithelial cell fate commitment (GO:0072148)2.43993313
96negative regulation of actin filament depolymerization (GO:0030835)2.41799890
97centriole replication (GO:0007099)2.37463828
98coenzyme catabolic process (GO:0009109)2.36247755
99cytoskeletal anchoring at plasma membrane (GO:0007016)2.36007575
100cell volume homeostasis (GO:0006884)2.33642581

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.17547291
2LXR_22292898_ChIP-Seq_THP-1_Human3.39322432
3MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.00747604
4STAT6_21828071_ChIP-Seq_BEAS2B_Human2.83165631
5ELF1_20517297_ChIP-Seq_JURKAT_Human2.63746232
6THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.57217634
7P68_20966046_ChIP-Seq_HELA_Human2.42461773
8BCOR_27268052_Chip-Seq_Bcells_Human2.32868466
9CTCF_27219007_Chip-Seq_Bcells_Human2.30115836
10BCL6_27268052_Chip-Seq_Bcells_Human2.29438247
11KDM2B_26808549_Chip-Seq_SUP-B15_Human2.22458843
12VDR_21846776_ChIP-Seq_THP-1_Human2.14632731
13SMC4_20622854_ChIP-Seq_HELA_Human2.11651548
14E2F1_20622854_ChIP-Seq_HELA_Human2.06473105
15SA1_27219007_Chip-Seq_ERYTHROID_Human2.00168314
16PHF8_20622854_ChIP-Seq_HELA_Human1.99428327
17KDM2B_26808549_Chip-Seq_DND41_Human1.97127370
18SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.89879767
19TCF7_22412390_ChIP-Seq_EML_Mouse1.89834285
20RARG_19884340_ChIP-ChIP_MEFs_Mouse1.85692138
21EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.80468718
22KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.77229110
23YY1_22570637_ChIP-Seq_MALME-3M_Human1.73123018
24KDM2B_26808549_Chip-Seq_K562_Human1.72834293
25CTCF_27219007_Chip-Seq_ERYTHROID_Human1.70458054
26TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70025371
27* TP63_22573176_ChIP-Seq_HFKS_Human1.69204468
28ELK3_25401928_ChIP-Seq_HUVEC_Human1.67413370
29SA1_27219007_Chip-Seq_Bcells_Human1.66955971
30DROSHA_22980978_ChIP-Seq_HELA_Human1.65911849
31RACK7_27058665_Chip-Seq_MCF-7_Human1.65745916
32EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.65597832
33TET1_21451524_ChIP-Seq_MESCs_Mouse1.65134371
34RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.63566453
35E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.62956889
36EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.62778563
37VDR_24763502_ChIP-Seq_THP-1_Human1.62319674
38VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.56928240
39CTCF_20526341_ChIP-Seq_ESCs_Human1.55847119
40* MAF_26560356_Chip-Seq_TH2_Human1.52611020
41ERA_21632823_ChIP-Seq_H3396_Human1.50210371
42P300_27268052_Chip-Seq_Bcells_Human1.48270024
43IKZF1_21737484_ChIP-ChIP_HCT116_Human1.47048583
44RAC3_21632823_ChIP-Seq_H3396_Human1.41518028
45RUNX1_27514584_Chip-Seq_MCF-7_Human1.38629456
46MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.38280120
47TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36300240
48SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.35154597
49GATA1_19941826_ChIP-Seq_K562_Human1.32189617
50UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.31188602
51SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29392457
52* CTCF_21964334_Chip-Seq_Bcells_Human1.29344361
53P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.29135395
54MAF_26560356_Chip-Seq_TH1_Human1.28961397
55CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.28526816
56OCT4_19829295_ChIP-Seq_ESCs_Human1.27807660
57RARA_24833708_ChIP-Seq_LIVER_Mouse1.27424706
58JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.26146199
59SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25636323
60KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.25375083
61GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24887446
62NFIB_24661679_ChIP-Seq_LUNG_Mouse1.24421754
63PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24357648
64KDM2B_26808549_Chip-Seq_JURKAT_Human1.23358035
65CREB1_26743006_Chip-Seq_LNCaP_Human1.22562128
66SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.22255773
67NANOG_20526341_ChIP-Seq_ESCs_Human1.21767372
68CTCF_21964334_ChIP-Seq_BJAB-B_Human1.21681005
69TP53_22127205_ChIP-Seq_IMR90_Human1.21653921
70FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20655035
71SPI1_23127762_ChIP-Seq_K562_Human1.19474984
72VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.19347572
73UTX_26944678_Chip-Seq_JUKART_Human1.17216462
74MYC_22102868_ChIP-Seq_BL_Human1.17089575
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.16520091
76NCOR1_26117541_ChIP-Seq_K562_Human1.16441027
77CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.16420070
78EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.14846882
79P63_26484246_Chip-Seq_KERATINOCYTES_Human1.13381462
80OCT4_20526341_ChIP-Seq_ESCs_Human1.11802583
81DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.11525461
82TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09504724
83FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09222035
84TAF2_19829295_ChIP-Seq_ESCs_Human1.08528076
85RARB_24833708_ChIP-Seq_LIVER_Mouse1.06092969
86KLF4_19829295_ChIP-Seq_ESCs_Human1.05922485
87NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.04694698
88BP1_19119308_ChIP-ChIP_Hs578T_Human1.03335039
89SPI1_20517297_ChIP-Seq_HL60_Human1.02872156
90RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.02633749
91ESR2_21235772_ChIP-Seq_MCF-7_Human1.02436879
92* FOXP1_21924763_ChIP-Seq_HESCs_Human1.02111661
93RXRA_24833708_ChIP-Seq_LIVER_Mouse1.01954629
94ETS1_21867929_ChIP-Seq_TH2_Mouse1.01822708
95PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.01717165
96CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00724961
97SUZ12_27294783_Chip-Seq_ESCs_Mouse0.98890174
98GATA3_21867929_ChIP-Seq_CD8_Mouse0.98744353
99TET1_21490601_ChIP-Seq_MESCs_Mouse0.98562542
100PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.98392915

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization8.48125529
2MP0009840_abnormal_foam_cell3.64763264
3MP0005377_hearing/vestibular/ear_phenot3.62516395
4MP0003878_abnormal_ear_physiology3.62516395
5MP0005670_abnormal_white_adipose3.09087918
6MP0003303_peritoneal_inflammation2.76659375
7MP0001348_abnormal_lacrimal_gland2.72630461
8MP0002132_abnormal_respiratory_system2.71731782
9MP0003172_abnormal_lysosome_physiology2.69374536
10MP0005451_abnormal_body_composition2.67626552
11MP0003698_abnormal_male_reproductive2.65650961
12MP0004510_myositis2.56534580
13MP0000678_abnormal_parathyroid_gland2.49241887
14MP0005058_abnormal_lysosome_morphology2.30377587
15MP0001929_abnormal_gametogenesis2.24968440
16MP0002254_reproductive_system_inflammat2.21122125
17MP0003136_yellow_coat_color2.19982281
18MP0003436_decreased_susceptibility_to2.14884452
19MP0002138_abnormal_hepatobiliary_system2.06479783
20MP0003300_gastrointestinal_ulcer1.92858413
21MP0005310_abnormal_salivary_gland1.76627760
22MP0003879_abnormal_hair_cell1.69264384
23MP0001849_ear_inflammation1.65276922
24MP0005409_darkened_coat_color1.64614252
25MP0009278_abnormal_bone_marrow1.52329363
26MP0002161_abnormal_fertility/fecundity1.48901108
27MP0005379_endocrine/exocrine_gland_phen1.44643694
28MP0002249_abnormal_larynx_morphology1.41912941
29MP0003705_abnormal_hypodermis_morpholog1.39137371
30MP0002419_abnormal_innate_immunity1.36554534
31MP0005666_abnormal_adipose_tissue1.33187364
32MP0009785_altered_susceptibility_to1.32626692
33MP0003453_abnormal_keratinocyte_physiol1.23660845
34MP0005025_abnormal_response_to1.22652224
35MP0009764_decreased_sensitivity_to1.22269918
36MP0004947_skin_inflammation1.21997879
37MP0002998_abnormal_bone_remodeling1.21177169
38MP0005375_adipose_tissue_phenotype1.21060647
39MP0001533_abnormal_skeleton_physiology1.19168114
40MP0001756_abnormal_urination1.18148923
41MP0005166_decreased_susceptibility_to1.12536203
42MP0005423_abnormal_somatic_nervous1.12513010
43MP0001545_abnormal_hematopoietic_system1.11931714
44MP0005397_hematopoietic_system_phenotyp1.11931714
45MP0001765_abnormal_ion_homeostasis1.09754842
46MP0001986_abnormal_taste_sensitivity1.09030420
47MP0003646_muscle_fatigue1.06359109
48MP0006082_CNS_inflammation1.05627931
49MP0005000_abnormal_immune_tolerance1.03870908
50MP0003091_abnormal_cell_migration1.03158464
51MP0002139_abnormal_hepatobiliary_system1.01126256
52MP0002723_abnormal_immune_serum0.97177451
53MP0001790_abnormal_immune_system0.95637795
54MP0005387_immune_system_phenotype0.95637795
55MP0000003_abnormal_adipose_tissue0.95054512
56MP0005365_abnormal_bile_salt0.92746663
57MP0002452_abnormal_antigen_presenting0.92105851
58MP0005023_abnormal_wound_healing0.91238253
59MP0004381_abnormal_hair_follicle0.90014051
60MP0005535_abnormal_body_temperature0.89634251
61MP0004233_abnormal_muscle_weight0.89162292
62MP0008469_abnormal_protein_level0.88865033
63MP0002210_abnormal_sex_determination0.84731348
64MP0000685_abnormal_immune_system0.80168866
65MP0001800_abnormal_humoral_immune0.79334911
66MP0000249_abnormal_blood_vessel0.79259031
67MP0003011_delayed_dark_adaptation0.78126495
68MP0002933_joint_inflammation0.76920871
69MP0005167_abnormal_blood-brain_barrier0.76201354
70MP0000681_abnormal_thyroid_gland0.75368335
71MP0002148_abnormal_hypersensitivity_rea0.73821526
72MP0001873_stomach_inflammation0.73240491
73MP0009115_abnormal_fat_cell0.72273755
74MP0003279_aneurysm0.71718788
75MP0002136_abnormal_kidney_physiology0.70984827
76MP0008260_abnormal_autophagy0.70904676
77MP0008874_decreased_physiological_sensi0.70681404
78MP0003724_increased_susceptibility_to0.69112335
79MP0000470_abnormal_stomach_morphology0.67985332
80MP0001845_abnormal_inflammatory_respons0.67487915
81MP0000015_abnormal_ear_pigmentation0.66822825
82MP0002405_respiratory_system_inflammati0.65944655
83MP0001145_abnormal_male_reproductive0.65595062
84MP0001819_abnormal_immune_cell0.64273179
85MP0002420_abnormal_adaptive_immunity0.63659741
86MP0009333_abnormal_splenocyte_physiolog0.63505752
87MP0003448_altered_tumor_morphology0.63122048
88MP0004859_abnormal_synaptic_plasticity0.62207393
89MP0005083_abnormal_biliary_tract0.61008450
90MP0005174_abnormal_tail_pigmentation0.60849564
91MP0001968_abnormal_touch/_nociception0.60584608
92MP0004019_abnormal_vitamin_homeostasis0.60322815
93MP0005390_skeleton_phenotype0.60083075
94MP0009643_abnormal_urine_homeostasis0.59943251
95MP0008004_abnormal_stomach_pH0.57913721
96MP0000653_abnormal_sex_gland0.56481007
97MP0003075_altered_response_to0.55278050
98MP0002163_abnormal_gland_morphology0.55132838
99MP0001666_abnormal_nutrient_absorption0.53944090
100MP0001835_abnormal_antigen_presentation0.53481710

Predicted human phenotypes

RankGene SetZ-score
1Asymmetric septal hypertrophy (HP:0001670)5.10812276
2Male infertility (HP:0003251)4.61056018
3Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.39569715
4Enlarged epiphyses (HP:0010580)3.82956486
5Thin bony cortex (HP:0002753)3.66466378
6Nasal polyposis (HP:0100582)3.53824798
7Infertility (HP:0000789)3.30966504
8Abnormality of the costochondral junction (HP:0000919)3.29594477
9Abnormality of macular pigmentation (HP:0008002)3.27481921
10Abnormality of the nasal mucosa (HP:0000433)3.26250137
11Bell-shaped thorax (HP:0001591)3.23427021
12Absent/shortened dynein arms (HP:0200106)2.95929709
13Dynein arm defect of respiratory motile cilia (HP:0012255)2.95929709
14Facial shape deformation (HP:0011334)2.91402717
15Potter facies (HP:0002009)2.91402717
16Hypoplastic ischia (HP:0003175)2.70200638
17Malnutrition (HP:0004395)2.65385967
18Abnormality of the aortic arch (HP:0012303)2.64539020
19Flattened epiphyses (HP:0003071)2.63469242
20Abnormality of macrophages (HP:0004311)2.60427983
21Hypoalphalipoproteinemia (HP:0003233)2.59721422
22Widely patent fontanelles and sutures (HP:0004492)2.57858114
23Abnormality of mucopolysaccharide metabolism (HP:0011020)2.53784875
24Abnormality of polysaccharide metabolism (HP:0011012)2.53784875
25Abnormality of glycosaminoglycan metabolism (HP:0004371)2.53784875
26Impulsivity (HP:0100710)2.52930596
27Double outlet right ventricle (HP:0001719)2.49820302
28Congenital malformation of the right heart (HP:0011723)2.49820302
29Resting tremor (HP:0002322)2.44264778
30Azoospermia (HP:0000027)2.41540090
31Seborrheic dermatitis (HP:0001051)2.40138382
32* Severe visual impairment (HP:0001141)2.39852720
33Turricephaly (HP:0000262)2.31420759
34Mesangial abnormality (HP:0001966)2.29174484
35Nuclear cataract (HP:0100018)2.27590559
36Dysostosis multiplex (HP:0000943)2.27219132
37Delayed epiphyseal ossification (HP:0002663)2.25317931
38Broad face (HP:0000283)2.25102985
39Abnormality of the ischium (HP:0003174)2.24726652
40Upper limb amyotrophy (HP:0009129)2.24354015
41Distal upper limb amyotrophy (HP:0007149)2.24354015
42Urinary glycosaminoglycan excretion (HP:0003541)2.23833117
43Mucopolysacchariduria (HP:0008155)2.23833117
44Hyperkalemia (HP:0002153)2.22890543
45Hand muscle atrophy (HP:0009130)2.19971891
46* Attenuation of retinal blood vessels (HP:0007843)2.19616754
47Abnormality of the hepatic vasculature (HP:0006707)2.16461254
48Gastrointestinal infarctions (HP:0005244)2.14349943
49Joint stiffness (HP:0001387)2.13295361
50Absent epiphyses (HP:0010577)2.12593373
51Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.12593373
52Chronic hepatic failure (HP:0100626)2.12445310
53Protuberant abdomen (HP:0001538)2.11545868
54Cervical subluxation (HP:0003308)2.05318894
55Generalized aminoaciduria (HP:0002909)2.04212130
56Obstructive sleep apnea (HP:0002870)2.04172572
57Abnormal ciliary motility (HP:0012262)2.04137275
58Aplasia/Hypoplasia of the earlobes (HP:0009906)2.02151145
59Abnormality of the femoral head (HP:0003368)2.02126021
60Acne (HP:0001061)2.01680646
61Scotoma (HP:0000575)2.00747573
62Hypertriglyceridemia (HP:0002155)2.00624582
63Hyperthyroidism (HP:0000836)1.96694255
64Abnormal respiratory epithelium morphology (HP:0012253)1.96371964
65Abnormal respiratory motile cilium morphology (HP:0005938)1.96371964
66Abnormality of the vertebral endplates (HP:0005106)1.95790885
67Atelectasis (HP:0100750)1.95333644
68Hemorrhage of the eye (HP:0011885)1.94261085
69Recurrent pneumonia (HP:0006532)1.89813002
70Portal hypertension (HP:0001409)1.88785724
71Cone-rod dystrophy (HP:0000548)1.87805308
72Abnormal spermatogenesis (HP:0008669)1.87349117
73* Bony spicule pigmentary retinopathy (HP:0007737)1.87057490
74Epiphyseal dysplasia (HP:0002656)1.86842608
75Prolonged neonatal jaundice (HP:0006579)1.85771482
76Abnormal urine output (HP:0012590)1.85479534
77Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.84374164
78Abnormality of the parathyroid morphology (HP:0011766)1.84296724
79Abnormal respiratory motile cilium physiology (HP:0012261)1.84224105
80Abnormality of glycolipid metabolism (HP:0010969)1.83849085
81Abnormality of liposaccharide metabolism (HP:0010968)1.83849085
82Abnormality of glycosphingolipid metabolism (HP:0004343)1.83849085
83Easy fatigability (HP:0003388)1.83469355
84Gingivitis (HP:0000230)1.83099625
85Thin ribs (HP:0000883)1.82003538
86Peripheral hypomyelination (HP:0007182)1.81756421
87Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.80986559
88Emphysema (HP:0002097)1.80433454
89Chronic obstructive pulmonary disease (HP:0006510)1.79572801
90Obstructive lung disease (HP:0006536)1.79572801
91Abnormality of dental color (HP:0011073)1.79560250
92Systemic lupus erythematosus (HP:0002725)1.78792426
93Deep palmar crease (HP:0006191)1.77933946
94Loss of speech (HP:0002371)1.77660151
95Abnormality of chloride homeostasis (HP:0011422)1.76777429
96Abnormality of the fingertips (HP:0001211)1.75778418
97Peritonitis (HP:0002586)1.73906193
98Tetany (HP:0001281)1.73860087
99Abnormality of the epiphysis of the femoral head (HP:0010574)1.73211395
100Unilateral renal agenesis (HP:0000122)1.72772545

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.19349371
2TESK13.84396818
3PLK43.68758901
4MAPK153.02704885
5STK382.85495385
6TRIB32.25839424
7RIPK42.24435243
8ERN12.00856076
9CDK121.87563041
10PRKD31.87349530
11RIPK11.84841614
12PDPK11.79626689
13MAP3K111.76138060
14IRAK31.74378003
15LMTK21.57484459
16MAP4K11.54924670
17PRPF4B1.54393089
18SIK21.54270597
19BLK1.53537241
20CAMK1G1.51012159
21INSRR1.48997431
22MAP2K31.47315592
23RPS6KA21.41797878
24SIK11.38996138
25TNK21.38668539
26PDK11.36999624
27DYRK1B1.36042383
28MARK21.35422270
29MAP3K131.30898814
30WNK11.30861019
31PRKD21.23774848
32CDC42BPA1.22851395
33JAK31.20441655
34ICK1.20208221
35MST1R1.19102244
36MAP3K11.11020957
37TYK21.10572004
38MAP3K31.07198963
39TBK11.07196249
40BRD41.06937889
41PRKG21.06490781
42RPS6KL11.05956122
43RPS6KC11.05956122
44KSR21.00642768
45ZAP701.00636708
46TYRO30.98734065
47CSK0.94365059
48CAMK1D0.90837019
49MAP4K20.90748612
50TAOK10.89550804
51IKBKB0.88043414
52RPS6KA60.87131685
53PIK3CG0.86217895
54SMG10.85963233
55MTOR0.85640702
56IRAK40.76712432
57BRAF0.72373748
58RPS6KA10.72120661
59BMX0.71851644
60HIPK20.70781898
61MAP3K70.70239427
62MAP3K80.70189217
63FGFR40.70029855
64PNCK0.69788586
65ROCK10.69357506
66CDK40.67671458
67IRAK20.67664644
68MATK0.65449007
69TAOK20.64229144
70MAP3K100.59355922
71CHUK0.58956746
72LATS20.58721833
73MAPK110.58417573
74MAP2K60.57989469
75MAP2K20.56321314
76FGR0.55414742
77PDGFRA0.55209964
78PTK2B0.54481557
79PRKAA20.52862225
80MAP3K20.51804160
81NME10.51679597
82DAPK20.50937850
83CDK70.50525419
84TESK20.49822508
85MAP3K140.49575539
86MUSK0.48848786
87NME20.48819680
88IKBKE0.47270396
89MAPK10.45465286
90MAPK80.44150197
91HCK0.43941077
92NEK60.43305637
93ARAF0.42773614
94KIT0.42229044
95DYRK30.40734019
96MAP3K90.38782158
97ABL20.37095044
98MAPK100.36897637
99PRKCZ0.34029761
100SGK30.32254387

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005113.25772808
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.65467633
3Fatty acid biosynthesis_Homo sapiens_hsa000612.52494256
4Glycosaminoglycan degradation_Homo sapiens_hsa005312.39388331
5Glycerophospholipid metabolism_Homo sapiens_hsa005641.97070952
6Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.94514557
7Osteoclast differentiation_Homo sapiens_hsa043801.81467015
8Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.69363441
9Acute myeloid leukemia_Homo sapiens_hsa052211.63655352
10Allograft rejection_Homo sapiens_hsa053301.53950017
11Influenza A_Homo sapiens_hsa051641.49863040
12Leishmaniasis_Homo sapiens_hsa051401.43912574
13Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.42470957
14Toll-like receptor signaling pathway_Homo sapiens_hsa046201.41129459
15Dorso-ventral axis formation_Homo sapiens_hsa043201.40511171
16B cell receptor signaling pathway_Homo sapiens_hsa046621.36935695
17VEGF signaling pathway_Homo sapiens_hsa043701.32824993
18Endocytosis_Homo sapiens_hsa041441.31872285
19Notch signaling pathway_Homo sapiens_hsa043301.31214460
20Graft-versus-host disease_Homo sapiens_hsa053321.29638681
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.28921707
22TNF signaling pathway_Homo sapiens_hsa046681.28026685
23Adipocytokine signaling pathway_Homo sapiens_hsa049201.24141023
24Olfactory transduction_Homo sapiens_hsa047401.24056614
25Autoimmune thyroid disease_Homo sapiens_hsa053201.23965266
26Butanoate metabolism_Homo sapiens_hsa006501.21999484
27Type II diabetes mellitus_Homo sapiens_hsa049301.19926235
28Lysosome_Homo sapiens_hsa041421.19594155
29Type I diabetes mellitus_Homo sapiens_hsa049401.18325906
30Toxoplasmosis_Homo sapiens_hsa051451.17585061
31NOD-like receptor signaling pathway_Homo sapiens_hsa046211.16593593
32Inositol phosphate metabolism_Homo sapiens_hsa005621.13677439
33AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.13322781
34NF-kappa B signaling pathway_Homo sapiens_hsa040641.07438646
35Staphylococcus aureus infection_Homo sapiens_hsa051501.06066161
36Malaria_Homo sapiens_hsa051441.04889883
37Jak-STAT signaling pathway_Homo sapiens_hsa046301.01354133
38PPAR signaling pathway_Homo sapiens_hsa033200.98679198
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96897459
40Tuberculosis_Homo sapiens_hsa051520.96392363
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.96190349
42Hepatitis C_Homo sapiens_hsa051600.91991175
43Phosphatidylinositol signaling system_Homo sapiens_hsa040700.91188764
44RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.90665232
45Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.90495670
46Herpes simplex infection_Homo sapiens_hsa051680.86876593
47Choline metabolism in cancer_Homo sapiens_hsa052310.86030707
48Antigen processing and presentation_Homo sapiens_hsa046120.84842765
49Pertussis_Homo sapiens_hsa051330.82913175
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.82422100
51Bile secretion_Homo sapiens_hsa049760.81875128
52Chemokine signaling pathway_Homo sapiens_hsa040620.80290826
53Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.80041025
54Insulin resistance_Homo sapiens_hsa049310.77624819
55Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.75837179
56Legionellosis_Homo sapiens_hsa051340.75554714
57Viral myocarditis_Homo sapiens_hsa054160.75351456
58Cyanoamino acid metabolism_Homo sapiens_hsa004600.73059853
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72117273
60Bladder cancer_Homo sapiens_hsa052190.71921221
61ABC transporters_Homo sapiens_hsa020100.71759788
62mTOR signaling pathway_Homo sapiens_hsa041500.71621430
63Prolactin signaling pathway_Homo sapiens_hsa049170.70961413
64MAPK signaling pathway_Homo sapiens_hsa040100.70658004
65African trypanosomiasis_Homo sapiens_hsa051430.70083989
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68198461
67T cell receptor signaling pathway_Homo sapiens_hsa046600.66750492
68Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.66228165
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.64672220
70Estrogen signaling pathway_Homo sapiens_hsa049150.60240935
71Leukocyte transendothelial migration_Homo sapiens_hsa046700.58405805
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.57455724
73Prion diseases_Homo sapiens_hsa050200.57380758
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55379694
75Measles_Homo sapiens_hsa051620.53814192
76Insulin signaling pathway_Homo sapiens_hsa049100.52915478
77Hepatitis B_Homo sapiens_hsa051610.52389869
78Intestinal immune network for IgA production_Homo sapiens_hsa046720.52325855
79Neurotrophin signaling pathway_Homo sapiens_hsa047220.51865895
80Chronic myeloid leukemia_Homo sapiens_hsa052200.50035613
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.48623549
82Prostate cancer_Homo sapiens_hsa052150.45949922
83Fatty acid degradation_Homo sapiens_hsa000710.45554375
84Endometrial cancer_Homo sapiens_hsa052130.45185582
85Amoebiasis_Homo sapiens_hsa051460.44322886
86Protein digestion and absorption_Homo sapiens_hsa049740.43986128
87Galactose metabolism_Homo sapiens_hsa000520.43787363
88Sphingolipid metabolism_Homo sapiens_hsa006000.42831442
89Viral carcinogenesis_Homo sapiens_hsa052030.42544364
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42411339
91Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.41189379
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.40954629
93cAMP signaling pathway_Homo sapiens_hsa040240.40143069
94Phenylalanine metabolism_Homo sapiens_hsa003600.40021456
95Complement and coagulation cascades_Homo sapiens_hsa046100.39713898
96Sulfur relay system_Homo sapiens_hsa041220.39551320
97Non-small cell lung cancer_Homo sapiens_hsa052230.39524002
98Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38809697
99FoxO signaling pathway_Homo sapiens_hsa040680.38597281
100ErbB signaling pathway_Homo sapiens_hsa040120.37006992

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