KIAA0556

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: This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cilium movement (GO:0003341)9.48380369
2motile cilium assembly (GO:0044458)8.79111260
3epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.28734337
4epithelial cilium movement (GO:0003351)8.14739405
5left/right pattern formation (GO:0060972)5.45700977
6axoneme assembly (GO:0035082)5.38295265
7ventricular system development (GO:0021591)4.89292498
8glomerular epithelial cell development (GO:0072310)4.32732436
9primary alcohol catabolic process (GO:0034310)4.27948673
10vitamin transmembrane transport (GO:0035461)4.10982669
11lung epithelium development (GO:0060428)3.86398454
12tolerance induction (GO:0002507)3.86240179
13regulation of cilium movement (GO:0003352)3.86163195
14positive regulation of histone deacetylation (GO:0031065)3.83714070
15insulin-like growth factor receptor signaling pathway (GO:0048009)3.81888850
16left/right axis specification (GO:0070986)3.67263344
17ethanol metabolic process (GO:0006067)3.58440658
18centriole assembly (GO:0098534)3.52440967
19negative regulation of immunoglobulin mediated immune response (GO:0002890)3.48436660
20negative regulation of B cell mediated immunity (GO:0002713)3.48436660
21establishment of apical/basal cell polarity (GO:0035089)3.47685476
22diterpenoid biosynthetic process (GO:0016102)3.44925192
23cellular extravasation (GO:0045123)3.43724082
24microtubule bundle formation (GO:0001578)3.41740094
25negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)3.35081675
26negative regulation of humoral immune response (GO:0002921)3.35057332
27negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.33234643
28regulation of interleukin-5 production (GO:0032674)3.28133848
29reactive oxygen species biosynthetic process (GO:1903409)3.23772814
30N-acetylneuraminate metabolic process (GO:0006054)3.10875306
31positive regulation of tolerance induction (GO:0002645)3.03833563
32cilium organization (GO:0044782)3.03494490
33response to xenobiotic stimulus (GO:0009410)3.01341688
34pyrimidine-containing compound transmembrane transport (GO:0072531)2.99142023
35cilium assembly (GO:0042384)2.97804456
36regulation of interleukin-13 production (GO:0032656)2.97440292
37positive regulation of protein deacetylation (GO:0090312)2.95264404
38intraciliary transport (GO:0042073)2.82620317
39regulation of germinal center formation (GO:0002634)2.80465900
40hypotonic response (GO:0006971)2.80075589
41establishment or maintenance of monopolar cell polarity (GO:0061339)2.77680638
42establishment of monopolar cell polarity (GO:0061162)2.77680638
43regulation of tolerance induction (GO:0002643)2.72795519
44positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.72413415
45histone H3-K36 demethylation (GO:0070544)2.70702141
46negative regulation of T cell differentiation in thymus (GO:0033085)2.66772047
47one-carbon compound transport (GO:0019755)2.64701898
48regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.64512774
49positive regulation of smoothened signaling pathway (GO:0045880)2.62624871
50hydrogen peroxide biosynthetic process (GO:0050665)2.62379271
51negative regulation of inclusion body assembly (GO:0090084)2.60875005
52microtubule-based movement (GO:0007018)2.56948479
53sperm capacitation (GO:0048240)2.56791678
54dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.53434157
55semaphorin-plexin signaling pathway (GO:0071526)2.52869644
56centriole replication (GO:0007099)2.49396704
57iron ion import (GO:0097286)2.46090120
58multicellular organismal water homeostasis (GO:0050891)2.45741523
59ear development (GO:0043583)2.44801012
60microglial cell activation (GO:0001774)2.42262830
61regulation of ARF protein signal transduction (GO:0032012)2.38612811
62cell projection assembly (GO:0030031)2.38594177
63cellular component assembly involved in morphogenesis (GO:0010927)2.37245813
64phosphatidylethanolamine biosynthetic process (GO:0006646)2.36862579
65regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.35055943
66filopodium assembly (GO:0046847)2.34408289
67protein localization to cilium (GO:0061512)2.32977190
68polyol transport (GO:0015791)2.29588236
69regulation of microtubule-based movement (GO:0060632)2.29385164
70regulation of cilium assembly (GO:1902017)2.29274082
71establishment of planar polarity (GO:0001736)2.28572582
72establishment of tissue polarity (GO:0007164)2.28572582
73O-glycan processing (GO:0016266)2.28135557
74neutrophil mediated immunity (GO:0002446)2.22771569
75germinal center formation (GO:0002467)2.21317600
76ethanol oxidation (GO:0006069)2.20116575
77phosphatidylethanolamine metabolic process (GO:0046337)2.19031624
78water homeostasis (GO:0030104)2.18623668
79regulation of histone deacetylation (GO:0031063)2.18154643
80mannose metabolic process (GO:0006013)2.17202876
81epithelial cell differentiation involved in prostate gland development (GO:0060742)2.16714973
82negative regulation of toll-like receptor signaling pathway (GO:0034122)2.16490268
83signal complex assembly (GO:0007172)2.15031621
84embryonic camera-type eye development (GO:0031076)2.14988910
85regulation of apoptotic cell clearance (GO:2000425)2.14746356
86positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.14260237
87negative regulation of lymphocyte mediated immunity (GO:0002707)2.14089010
88amino sugar catabolic process (GO:0046348)2.13378874
89cytoskeletal anchoring at plasma membrane (GO:0007016)2.12975233
90striated muscle atrophy (GO:0014891)2.11888489
91regulation of ARF GTPase activity (GO:0032312)2.10379038
92cell-cell junction maintenance (GO:0045217)2.09005294
93macroautophagy (GO:0016236)2.08499402
94regulation of response to osmotic stress (GO:0047484)2.06573650
95cytoplasmic microtubule organization (GO:0031122)2.06372377
96histone lysine demethylation (GO:0070076)2.05010984
97retinoic acid metabolic process (GO:0042573)2.03792756
98cilium morphogenesis (GO:0060271)2.03691948
99axonemal dynein complex assembly (GO:0070286)12.2629887
100cilium or flagellum-dependent cell motility (GO:0001539)10.8622110

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_20079471_ChIP-ChIP_T-47D_Human3.01445575
2ESR2_21235772_ChIP-Seq_MCF-7_Human2.96902883
3DROSHA_22980978_ChIP-Seq_HELA_Human2.84402317
4TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.65844071
5ESR1_21235772_ChIP-Seq_MCF-7_Human2.37452762
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.27381059
7KDM2B_26808549_Chip-Seq_SUP-B15_Human2.08432280
8RUNX1_27514584_Chip-Seq_MCF-7_Human2.05911768
9STAT6_21828071_ChIP-Seq_BEAS2B_Human2.02832701
10LXR_22292898_ChIP-Seq_THP-1_Human1.93989845
11TP63_17297297_ChIP-ChIP_HaCaT_Human1.93758496
12SMC4_20622854_ChIP-Seq_HELA_Human1.91514300
13EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.82841044
14FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.81757530
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.76948529
16RACK7_27058665_Chip-Seq_MCF-7_Human1.71721458
17* AHR_22903824_ChIP-Seq_MCF-7_Human1.68484776
18VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.64090421
19ZNF217_24962896_ChIP-Seq_MCF-7_Human1.63053956
20BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.60264606
21SOX9_24532713_ChIP-Seq_HFSC_Mouse1.59813408
22KDM2B_26808549_Chip-Seq_K562_Human1.54406882
23ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.54281175
24KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.52518474
25TCF7_22412390_ChIP-Seq_EML_Mouse1.51096653
26VDR_21846776_ChIP-Seq_THP-1_Human1.49967632
27TP63_22573176_ChIP-Seq_HFKS_Human1.47688721
28SOX2_27498859_Chip-Seq_STOMACH_Mouse1.45790967
29CREB1_26743006_Chip-Seq_LNCaP_Human1.42727351
30P63_26484246_Chip-Seq_KERATINOCYTES_Human1.42422362
31RARG_19884340_ChIP-ChIP_MEFs_Mouse1.41944281
32SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.40778550
33CTNNB1_20460455_ChIP-Seq_HCT116_Human1.40387196
34GATA1_19941826_ChIP-Seq_K562_Human1.40253040
35* ARNT_22903824_ChIP-Seq_MCF-7_Human1.39123182
36E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.38466887
37VDR_24763502_ChIP-Seq_THP-1_Human1.36811269
38KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.36762073
39GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35168672
40CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.33272134
41GATA1_19941827_ChIP-Seq_MEL_Mouse1.32976478
42SPI1_23127762_ChIP-Seq_K562_Human1.32044825
43TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.31800216
44PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.30068621
45STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.29121448
46* FOXA2_19822575_ChIP-Seq_HepG2_Human1.28638393
47KDM2B_26808549_Chip-Seq_DND41_Human1.28236807
48P68_20966046_ChIP-Seq_HELA_Human1.28206805
49KLF5_25053715_ChIP-Seq_YYC3_Human1.26925486
50CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.26373977
51EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25791809
52ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.25315699
53ELK3_25401928_ChIP-Seq_HUVEC_Human1.25244209
54IRF8_22096565_ChIP-ChIP_GC-B_Human1.23854925
55ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.22976571
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.20539136
57FOXO3_23340844_ChIP-Seq_DLD1_Human1.20339984
58NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.20094799
59TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18955152
60RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15167350
61SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14263462
62KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.14070507
63SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.13443894
64SCL_19346495_ChIP-Seq_HPC-7_Human1.13066554
65MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.13042497
66TP53_22127205_ChIP-Seq_IMR90_Human1.11299250
67IKZF1_21737484_ChIP-ChIP_HCT116_Human1.09746636
68ELF1_20517297_ChIP-Seq_JURKAT_Human1.07570794
69GATA2_21666600_ChIP-Seq_HMVEC_Human1.06318749
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.05481958
71TRIM28_21343339_ChIP-Seq_HEK293_Human1.05406243
72GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00500821
73ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99455606
74NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99400012
75PPAR_26484153_Chip-Seq_NCI-H1993_Human0.97393610
76CTCF_27219007_Chip-Seq_Bcells_Human0.97096912
77TP53_23651856_ChIP-Seq_MEFs_Mouse0.95946305
78NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.94896425
79* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.94557470
80MAF_26560356_Chip-Seq_TH1_Human0.94444500
81TDRD3_21172665_ChIP-Seq_MCF-7_Human0.93553008
82TBX20_22328084_ChIP-Seq_HEART_Mouse0.92036863
83TBX20_22080862_ChIP-Seq_HEART_Mouse0.92036863
84Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.91482011
85SA1_27219007_Chip-Seq_ERYTHROID_Human0.90514552
86RUNX1_22412390_ChIP-Seq_EML_Mouse0.90003529
87* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.89147427
88SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.88564859
89VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.88330871
90RUNX_20019798_ChIP-Seq_JUKART_Human0.87930491
91FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.87914654
92P300_27058665_Chip-Seq_ZR-75-30cells_Human0.87875147
93FOXA1_25552417_ChIP-Seq_VCAP_Human0.87873915
94OCT4_19829295_ChIP-Seq_ESCs_Human0.87722876
95WT1_25993318_ChIP-Seq_PODOCYTE_Human0.87400563
96EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87247721
97LXR_22158963_ChIP-Seq_LIVER_Mouse0.87206040
98KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86596066
99* GATA2_19941826_ChIP-Seq_K562_Human0.86012915
100BCOR_27268052_Chip-Seq_Bcells_Human0.86008212

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract4.72336756
2MP0002653_abnormal_ependyma_morphology3.83585641
3MP0008875_abnormal_xenobiotic_pharmacok3.55652290
4MP0004043_abnormal_pH_regulation3.55280858
5MP0002132_abnormal_respiratory_system3.29063979
6MP0000383_abnormal_hair_follicle2.52239033
7MP0003705_abnormal_hypodermis_morpholog2.32815632
8MP0008961_abnormal_basal_metabolism2.32707866
9MP0003878_abnormal_ear_physiology2.29769506
10MP0005377_hearing/vestibular/ear_phenot2.29769506
11MP0005076_abnormal_cell_differentiation2.15408762
12MP0010678_abnormal_skin_adnexa2.07858364
13MP0005365_abnormal_bile_salt1.97347628
14MP0003172_abnormal_lysosome_physiology1.95927435
15MP0002277_abnormal_respiratory_mucosa1.92395421
16MP0009780_abnormal_chondrocyte_physiolo1.91067198
17MP0003566_abnormal_cell_adhesion1.85637031
18MP0002168_other_aberrant_phenotype1.81827355
19MP0003191_abnormal_cellular_cholesterol1.78353552
20MP0003303_peritoneal_inflammation1.75963399
21MP0001984_abnormal_olfaction1.73859448
22MP0002249_abnormal_larynx_morphology1.70982594
23MP0003091_abnormal_cell_migration1.70454049
24MP0005409_darkened_coat_color1.69758879
25MP0003436_decreased_susceptibility_to1.61930045
26MP0005310_abnormal_salivary_gland1.61806554
27MP0005248_abnormal_Harderian_gland1.54136367
28MP0004858_abnormal_nervous_system1.53769079
29MP0004947_skin_inflammation1.53447247
30MP0004133_heterotaxia1.52848433
31MP0004264_abnormal_extraembryonic_tissu1.52322066
32MP0001849_ear_inflammation1.51247029
33MP0001765_abnormal_ion_homeostasis1.51101314
34MP0001958_emphysema1.48942475
35MP0005623_abnormal_meninges_morphology1.46233202
36MP0010234_abnormal_vibrissa_follicle1.42533953
37MP0004381_abnormal_hair_follicle1.39000215
38MP0000566_synostosis1.37274407
39MP0010155_abnormal_intestine_physiology1.32547846
40MP0002098_abnormal_vibrissa_morphology1.31086043
41MP0003453_abnormal_keratinocyte_physiol1.30302703
42MP0003183_abnormal_peptide_metabolism1.29795648
43MP0004019_abnormal_vitamin_homeostasis1.24314512
44MP0005164_abnormal_response_to1.22927149
45MP0003045_fibrosis1.22620254
46MP0002419_abnormal_innate_immunity1.20584621
47MP0005058_abnormal_lysosome_morphology1.16354263
48MP0009278_abnormal_bone_marrow1.15859548
49MP0003252_abnormal_bile_duct1.15661715
50MP0001502_abnormal_circadian_rhythm1.14266083
51MP0009384_cardiac_valve_regurgitation1.10672843
52MP0003656_abnormal_erythrocyte_physiolo1.09266735
53MP0005503_abnormal_tendon_morphology1.09052392
54MP0003866_abnormal_defecation1.08571743
55MP0002405_respiratory_system_inflammati1.04548848
56MP0000003_abnormal_adipose_tissue1.03236351
57MP0000465_gastrointestinal_hemorrhage1.02203756
58MP0005085_abnormal_gallbladder_physiolo1.00788753
59MP0000678_abnormal_parathyroid_gland1.00741541
60MP0004883_abnormal_blood_vessel0.99749458
61MP0002909_abnormal_adrenal_gland0.99671356
62MP0009643_abnormal_urine_homeostasis0.98783749
63MP0005025_abnormal_response_to0.97973719
64MP0009115_abnormal_fat_cell0.96858291
65MP0001270_distended_abdomen0.96544332
66MP0002136_abnormal_kidney_physiology0.95790777
67MP0003828_pulmonary_edema0.94918420
68MP0005023_abnormal_wound_healing0.93857199
69MP0005387_immune_system_phenotype0.92230579
70MP0001790_abnormal_immune_system0.92230579
71MP0005375_adipose_tissue_phenotype0.90027104
72MP0003300_gastrointestinal_ulcer0.89489809
73MP0002896_abnormal_bone_mineralization0.88413985
74MP0003724_increased_susceptibility_to0.85564667
75MP0002282_abnormal_trachea_morphology0.84555786
76MP0003279_aneurysm0.83106637
77MP0001533_abnormal_skeleton_physiology0.81943455
78MP0000249_abnormal_blood_vessel0.78452295
79MP0003690_abnormal_glial_cell0.78113617
80MP0000467_abnormal_esophagus_morphology0.76615674
81MP0000681_abnormal_thyroid_gland0.76472221
82MP0002998_abnormal_bone_remodeling0.76092352
83MP0002108_abnormal_muscle_morphology0.75015348
84MP0005451_abnormal_body_composition0.74482718
85MP0002089_abnormal_postnatal_growth/wei0.74252954
86MP0003329_amyloid_beta_deposits0.72297232
87MP0001664_abnormal_digestion0.71526841
88MP0001873_stomach_inflammation0.68637581
89MP0002133_abnormal_respiratory_system0.67819233
90MP0005388_respiratory_system_phenotype0.67819233
91MP0005670_abnormal_white_adipose0.67238188
92MP0000858_altered_metastatic_potential0.65355058
93MP0005666_abnormal_adipose_tissue0.63944329
94MP0002060_abnormal_skin_morphology0.63851703
95MP0003075_altered_response_to0.63329688
96MP0002796_impaired_skin_barrier0.62701210
97MP0008260_abnormal_autophagy0.61591737
98MP0006082_CNS_inflammation0.60690267
99MP0003115_abnormal_respiratory_system0.60469286
100MP0001348_abnormal_lacrimal_gland0.59155444

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)9.86504499
2Abnormal respiratory epithelium morphology (HP:0012253)9.03082615
3Abnormal respiratory motile cilium morphology (HP:0005938)9.03082615
4Dynein arm defect of respiratory motile cilia (HP:0012255)8.85449353
5Absent/shortened dynein arms (HP:0200106)8.85449353
6Abnormal ciliary motility (HP:0012262)8.79079013
7Abnormal respiratory motile cilium physiology (HP:0012261)8.70761122
8Rhinitis (HP:0012384)8.04331744
9Bronchiectasis (HP:0002110)6.03142288
10Nasal polyposis (HP:0100582)6.01738175
11Chronic bronchitis (HP:0004469)5.88460264
12Abnormality of the nasal mucosa (HP:0000433)5.11246365
13Recurrent sinusitis (HP:0011108)3.68935495
14Recurrent otitis media (HP:0000403)3.58296254
15Bronchitis (HP:0012387)3.47352694
16Infertility (HP:0000789)3.41127034
17Male infertility (HP:0003251)3.30976091
18Atelectasis (HP:0100750)3.03852744
19Chronic sinusitis (HP:0011109)3.01865373
20Occipital encephalocele (HP:0002085)2.92704990
21Obstructive sleep apnea (HP:0002870)2.70348092
22Hyperactive renin-angiotensin system (HP:0000841)2.65638131
23Bell-shaped thorax (HP:0001591)2.47628840
24Absent frontal sinuses (HP:0002688)2.34138889
25Cystic liver disease (HP:0006706)2.32390521
26Short nail (HP:0001799)2.29249802
27Flat acetabular roof (HP:0003180)2.29205850
28Broad face (HP:0000283)2.17449270
29Chronic otitis media (HP:0000389)2.10166469
30Hyperkalemia (HP:0002153)2.06707155
31Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.03231593
32Cervical subluxation (HP:0003308)2.02777236
33Tubulointerstitial nephritis (HP:0001970)2.02360193
34True hermaphroditism (HP:0010459)1.98106595
35Pancreatic fibrosis (HP:0100732)1.91109284
36Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.88925108
37Nephronophthisis (HP:0000090)1.87319102
38Recurrent bronchitis (HP:0002837)1.81591239
39Postaxial foot polydactyly (HP:0001830)1.75899697
40Molar tooth sign on MRI (HP:0002419)1.75652591
41Abnormality of midbrain morphology (HP:0002418)1.75652591
42Abnormality of chloride homeostasis (HP:0011422)1.72742013
43Renal salt wasting (HP:0000127)1.68603944
44Chronic hepatic failure (HP:0100626)1.62060244
45Abnormality of dentin (HP:0010299)1.58025226
46Decreased circulating renin level (HP:0003351)1.57639775
47Abnormality of the renal medulla (HP:0100957)1.57188678
48Eczematoid dermatitis (HP:0000976)1.57031944
49Abnormal vertebral ossification (HP:0100569)1.56420459
50Congenital hepatic fibrosis (HP:0002612)1.55768682
51Hyperaldosteronism (HP:0000859)1.54512349
52Tubular atrophy (HP:0000092)1.54133155
53Abnormality of permanent molar morphology (HP:0011071)1.53940181
54Abnormality of the dental root (HP:0006486)1.53940181
55Taurodontia (HP:0000679)1.53940181
56Abnormality of the frontal sinuses (HP:0002687)1.50130311
57Hand muscle atrophy (HP:0009130)1.49230037
58Myositis (HP:0100614)1.47801220
59Abnormality of molar morphology (HP:0011070)1.47762949
60Abnormality of molar (HP:0011077)1.47762949
61Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.46112588
62Interstitial pulmonary disease (HP:0006530)1.44525530
63Abnormality of the dental pulp (HP:0006479)1.43385668
64Lip pit (HP:0100267)1.42622173
65Stage 5 chronic kidney disease (HP:0003774)1.42473140
66Arterial tortuosity (HP:0005116)1.42454998
67Upper limb amyotrophy (HP:0009129)1.42021658
68Distal upper limb amyotrophy (HP:0007149)1.42021658
69Self-mutilation (HP:0000742)1.38060302
70Recurrent bacterial skin infections (HP:0005406)1.37975900
71Mucopolysacchariduria (HP:0008155)1.37410704
72Urinary glycosaminoglycan excretion (HP:0003541)1.37410704
73Short thorax (HP:0010306)1.37202522
74Epiphyseal dysplasia (HP:0002656)1.36730827
75Pancreatic cysts (HP:0001737)1.36597623
76Neoplasm of the heart (HP:0100544)1.35815390
77Hypoplasia of the odontoid process (HP:0003311)1.35748924
78Bronchomalacia (HP:0002780)1.31596797
79Recurrent abscess formation (HP:0002722)1.30170024
80Hypokalemic alkalosis (HP:0001949)1.29763693
81Abnormality of the distal phalanges of the toes (HP:0010182)1.29587956
82Abnormality of mucopolysaccharide metabolism (HP:0011020)1.29335353
83Abnormality of polysaccharide metabolism (HP:0011012)1.29335353
84Abnormality of glycosaminoglycan metabolism (HP:0004371)1.29335353
85Spinal cord compression (HP:0002176)1.28201141
86Aneurysm (HP:0002617)1.27929709
87Abnormality of renin-angiotensin system (HP:0000847)1.27415211
88Stridor (HP:0010307)1.27187187
89Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.25950424
90Glucose intolerance (HP:0000833)1.25198888
91Hemorrhage of the eye (HP:0011885)1.24495744
92Absent speech (HP:0001344)1.24149184
93Gingivitis (HP:0000230)1.23954481
94Nephropathy (HP:0000112)1.23896633
95Vascular tortuosity (HP:0004948)1.23722930
96Abnormality of the odontoid process (HP:0003310)1.22826246
97Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.22436316
98Recurrent gram-negative bacterial infections (HP:0005420)1.21943128
99Mitral stenosis (HP:0001718)1.21463096
100Distal lower limb muscle weakness (HP:0009053)1.20787656

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK155.37521903
2TRIB34.25964683
3SMG13.09040862
4EPHA23.00772854
5ERN12.57409747
6CAMK1D2.39694478
7ICK2.29635496
8NEK22.12703854
9MARK22.10199773
10CCNB12.06491442
11CAMK1G1.99898905
12EPHB11.91566793
13EEF2K1.88724089
14MAP3K71.78382753
15CDK121.68698211
16RIPK11.64975240
17SIK11.62080901
18CSK1.56684271
19RIPK41.52530874
20CAMKK11.52516145
21MAP3K21.43775329
22MST1R1.43291090
23CAMKK21.43020205
24LRRK21.41325930
25PKN21.37710170
26MAP3K31.28869626
27TNK21.26451213
28PTK2B1.19456195
29FGFR41.18109815
30PRKD21.15997017
31CDC42BPA1.11690187
32STK381.10679698
33CHUK1.09358833
34BLK1.06092455
35HIPK21.04243776
36MAP2K31.03522130
37TAOK10.99287027
38GRK60.98189028
39TYK20.97332519
40PDPK10.94313500
41RET0.92577909
42PRPF4B0.92402645
43WNK40.90938582
44PDGFRB0.90864580
45ZAP700.90431543
46TBK10.88865704
47PTK60.87295163
48EPHA30.87141827
49MET0.85388905
50MTOR0.85043352
51FGFR30.84938604
52NEK90.82979449
53NEK60.82308431
54MAPKAPK30.82191884
55ERBB20.78101346
56WNK10.75761808
57RPS6KA20.75120218
58TRPM70.74706200
59KSR20.72260245
60PRKAA20.70758696
61TESK10.69368396
62SGK30.68335858
63MAP3K10.65879976
64MAP2K40.63674600
65IRAK40.61264178
66MAP4K10.60539725
67MAP2K20.59992662
68PDK10.59786409
69MAP3K60.58334938
70MAP3K110.57989255
71JAK10.56820668
72PTK20.56162014
73BTK0.53554952
74HCK0.53290824
75SGK20.51591125
76MELK0.48396379
77DYRK1B0.46767737
78RPS6KL10.46156439
79RPS6KC10.46156439
80CAMK40.46021925
81PRKD30.43516365
82FGR0.43137415
83PDGFRA0.42919720
84FES0.42737918
85TTN0.41653554
86RPS6KA60.41447469
87SIK20.40499950
88STK240.40325405
89SGK10.39970026
90CAMK10.39812908
91PAK40.38932738
92PRKCH0.38618700
93MAP3K130.38459767
94SGK2230.38046940
95SGK4940.38046940
96PRKD10.37670594
97MAPK70.37393532
98LMTK20.37129239
99FYN0.36846472
100PRKCI0.36644759

Predicted pathways (KEGG)

RankGene SetZ-score
1Histidine metabolism_Homo sapiens_hsa003402.50962861
2Phenylalanine metabolism_Homo sapiens_hsa003601.87088094
3Notch signaling pathway_Homo sapiens_hsa043301.81560364
4Glycosaminoglycan degradation_Homo sapiens_hsa005311.67182428
5Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.54633298
6Other glycan degradation_Homo sapiens_hsa005111.34967272
7Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.33193421
8ABC transporters_Homo sapiens_hsa020101.32264793
9Choline metabolism in cancer_Homo sapiens_hsa052311.24289060
10Acute myeloid leukemia_Homo sapiens_hsa052211.21559492
11Chemical carcinogenesis_Homo sapiens_hsa052041.20474819
12Hepatitis C_Homo sapiens_hsa051601.18673903
13Tyrosine metabolism_Homo sapiens_hsa003501.16873610
14Amoebiasis_Homo sapiens_hsa051461.15915776
15Carbohydrate digestion and absorption_Homo sapiens_hsa049731.14770569
16Osteoclast differentiation_Homo sapiens_hsa043801.12530837
17Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.12388794
18Leukocyte transendothelial migration_Homo sapiens_hsa046701.12215188
19Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.10592813
20Non-small cell lung cancer_Homo sapiens_hsa052231.09198999
21Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.08112112
22Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02411480
23VEGF signaling pathway_Homo sapiens_hsa043701.01479481
24Endometrial cancer_Homo sapiens_hsa052131.01421200
25Chronic myeloid leukemia_Homo sapiens_hsa052200.99917157
26Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.99639982
27Lysosome_Homo sapiens_hsa041420.99396868
28mTOR signaling pathway_Homo sapiens_hsa041500.98542914
29ErbB signaling pathway_Homo sapiens_hsa040120.96379011
30GnRH signaling pathway_Homo sapiens_hsa049120.93904893
31B cell receptor signaling pathway_Homo sapiens_hsa046620.93837758
32Insulin resistance_Homo sapiens_hsa049310.93238988
33Thyroid hormone signaling pathway_Homo sapiens_hsa049190.92770625
34Phospholipase D signaling pathway_Homo sapiens_hsa040720.92653996
35AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.90141910
36beta-Alanine metabolism_Homo sapiens_hsa004100.89500786
37Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89442298
38ECM-receptor interaction_Homo sapiens_hsa045120.87463088
39Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.85928175
40Focal adhesion_Homo sapiens_hsa045100.85875374
41Estrogen signaling pathway_Homo sapiens_hsa049150.85298672
42Sphingolipid metabolism_Homo sapiens_hsa006000.84622953
43Tight junction_Homo sapiens_hsa045300.83318515
44Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.83127929
45Pancreatic cancer_Homo sapiens_hsa052120.83073449
46Sphingolipid signaling pathway_Homo sapiens_hsa040710.82195566
47Neurotrophin signaling pathway_Homo sapiens_hsa047220.82134945
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.82090137
49Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.80989912
50Staphylococcus aureus infection_Homo sapiens_hsa051500.80477016
51Longevity regulating pathway - mammal_Homo sapiens_hsa042110.80265820
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79602910
53Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.79356625
54Glycerophospholipid metabolism_Homo sapiens_hsa005640.79037132
55Adipocytokine signaling pathway_Homo sapiens_hsa049200.78178334
56TNF signaling pathway_Homo sapiens_hsa046680.77813061
57Jak-STAT signaling pathway_Homo sapiens_hsa046300.76946804
58Toll-like receptor signaling pathway_Homo sapiens_hsa046200.76167316
59Prostate cancer_Homo sapiens_hsa052150.76087250
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75642105
61Inositol phosphate metabolism_Homo sapiens_hsa005620.75434400
62Prolactin signaling pathway_Homo sapiens_hsa049170.75405268
63Renal cell carcinoma_Homo sapiens_hsa052110.75110566
64Adherens junction_Homo sapiens_hsa045200.73832544
65Tuberculosis_Homo sapiens_hsa051520.70771177
66Type II diabetes mellitus_Homo sapiens_hsa049300.70645178
67Influenza A_Homo sapiens_hsa051640.70332720
68Axon guidance_Homo sapiens_hsa043600.69666481
69T cell receptor signaling pathway_Homo sapiens_hsa046600.69195358
70Leishmaniasis_Homo sapiens_hsa051400.68791440
71Toxoplasmosis_Homo sapiens_hsa051450.68352577
72Platelet activation_Homo sapiens_hsa046110.67989011
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.67537942
74Salivary secretion_Homo sapiens_hsa049700.67449893
75Bladder cancer_Homo sapiens_hsa052190.66894133
76Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66708826
77Proteoglycans in cancer_Homo sapiens_hsa052050.66420020
78Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66391367
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.66266465
80FoxO signaling pathway_Homo sapiens_hsa040680.64250924
81Malaria_Homo sapiens_hsa051440.62721707
82Endocytosis_Homo sapiens_hsa041440.62564736
83Chemokine signaling pathway_Homo sapiens_hsa040620.61422396
84Small cell lung cancer_Homo sapiens_hsa052220.59448369
85Phagosome_Homo sapiens_hsa041450.58618644
86Dorso-ventral axis formation_Homo sapiens_hsa043200.58572735
87Lysine degradation_Homo sapiens_hsa003100.57688074
88RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.57175984
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.56834984
90Thyroid cancer_Homo sapiens_hsa052160.56798939
91Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.56228704
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56166366
93Insulin signaling pathway_Homo sapiens_hsa049100.56030689
94Glioma_Homo sapiens_hsa052140.55516794
95Ovarian steroidogenesis_Homo sapiens_hsa049130.55236710
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53071979
97cAMP signaling pathway_Homo sapiens_hsa040240.52230470
98Apoptosis_Homo sapiens_hsa042100.51754898
99Dilated cardiomyopathy_Homo sapiens_hsa054140.51616921
100Hedgehog signaling pathway_Homo sapiens_hsa043400.50331266

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