KRT18P58

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)6.84280065
2establishment of protein localization to mitochondrial membrane (GO:0090151)6.22692868
3chaperone-mediated protein transport (GO:0072321)5.61870846
4signal peptide processing (GO:0006465)5.49794097
5mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.40220229
6protein neddylation (GO:0045116)4.91780772
7regulation of mitochondrial translation (GO:0070129)4.79824914
8cytochrome complex assembly (GO:0017004)4.73746172
9ATP synthesis coupled proton transport (GO:0015986)4.71228454
10energy coupled proton transport, down electrochemical gradient (GO:0015985)4.71228454
11protein complex biogenesis (GO:0070271)4.49325442
12negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.46201859
13regulation of cellular amino acid metabolic process (GO:0006521)4.44238071
14mitochondrial respiratory chain complex assembly (GO:0033108)4.33255107
15positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.31094886
16respiratory chain complex IV assembly (GO:0008535)4.27296422
17polyketide metabolic process (GO:0030638)4.22019570
18doxorubicin metabolic process (GO:0044598)4.22019570
19daunorubicin metabolic process (GO:0044597)4.22019570
20DNA deamination (GO:0045006)4.20639051
21mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.18634869
22DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:004.12467258
23regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.11772803
24transcription elongation from RNA polymerase III promoter (GO:0006385)4.07862711
25termination of RNA polymerase III transcription (GO:0006386)4.07862711
26negative regulation of ligase activity (GO:0051352)4.06600664
27negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.06600664
28intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)4.01258733
29signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)4.01258733
30signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)4.00823000
31signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)4.00823000
32signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)4.00823000
33water-soluble vitamin biosynthetic process (GO:0042364)3.95921730
34respiratory electron transport chain (GO:0022904)3.93245405
35signal transduction involved in DNA damage checkpoint (GO:0072422)3.89064404
36signal transduction involved in DNA integrity checkpoint (GO:0072401)3.89064404
37signal transduction involved in cell cycle checkpoint (GO:0072395)3.87536155
38electron transport chain (GO:0022900)3.86875811
39anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.83407663
40aminoglycoside antibiotic metabolic process (GO:0030647)3.73887393
41inner mitochondrial membrane organization (GO:0007007)3.64659919
42mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.64073845
43mitochondrial respiratory chain complex I assembly (GO:0032981)3.64073845
44NADH dehydrogenase complex assembly (GO:0010257)3.64073845
45positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.63884991
46regulation of mitotic spindle checkpoint (GO:1903504)3.62126245
47regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.62126245
48positive regulation of ligase activity (GO:0051351)3.54951021
49antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.54264087
50DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.48549599
51protein deneddylation (GO:0000338)3.45638855
52positive regulation of interleukin-8 secretion (GO:2000484)3.45584143
53rRNA modification (GO:0000154)3.40269196
54tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.38930510
55RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.38930510
56intracellular protein transmembrane import (GO:0044743)3.30580036
57antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.29367898
58protein-cofactor linkage (GO:0018065)3.26709523
59DNA damage response, detection of DNA damage (GO:0042769)3.21379182
60base-excision repair, AP site formation (GO:0006285)3.20936980
61regulation of cellular amine metabolic process (GO:0033238)3.19450421
62regulation of ubiquitin-protein transferase activity (GO:0051438)3.16755365
63L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.15929329
64nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.14519293
65regulation of ligase activity (GO:0051340)3.11359634
66negative regulation of T cell differentiation in thymus (GO:0033085)3.11176846
67exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.09601655
68glucuronate metabolic process (GO:0019585)3.04336913
69uronic acid metabolic process (GO:0006063)3.04336913
70positive regulation of cell cycle arrest (GO:0071158)3.03523753
71flavonoid metabolic process (GO:0009812)3.01893266
72phenylpropanoid metabolic process (GO:0009698)2.99993734
73metallo-sulfur cluster assembly (GO:0031163)2.99462113
74iron-sulfur cluster assembly (GO:0016226)2.99462113
75deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.99273270
76cobalamin metabolic process (GO:0009235)2.98602103
77ribosomal small subunit assembly (GO:0000028)2.97543134
78ATP biosynthetic process (GO:0006754)2.90177310
79L-ascorbic acid metabolic process (GO:0019852)2.89756226
80branched-chain amino acid catabolic process (GO:0009083)2.87966225
81positive regulation of uterine smooth muscle contraction (GO:0070474)2.86800381
82signal transduction in response to DNA damage (GO:0042770)2.86782389
83positive regulation of prostaglandin secretion (GO:0032308)2.86620479
84translation (GO:0006412)2.78972468
85protein targeting to mitochondrion (GO:0006626)2.77939516
86primary alcohol catabolic process (GO:0034310)2.77694947
87purine nucleoside triphosphate biosynthetic process (GO:0009145)2.74326247
88nucleotide transmembrane transport (GO:1901679)2.71790525
89ribosomal large subunit biogenesis (GO:0042273)2.71363978
90negative regulation of transcription regulatory region DNA binding (GO:2000678)2.70757062
91pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.68437293
92SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.67682164
93mannosylation (GO:0097502)2.67209423
94protein localization to endoplasmic reticulum (GO:0070972)2.67030746
95antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.66870960
96protein targeting to ER (GO:0045047)2.66843795
97protein peptidyl-prolyl isomerization (GO:0000413)2.66424559
98cotranslational protein targeting to membrane (GO:0006613)2.65830843
99endothelial tube morphogenesis (GO:0061154)2.65652047
100morphogenesis of an endothelium (GO:0003159)2.65652047

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human5.23480805
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.11349144
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.40446061
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.99536355
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.83924008
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.59019674
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.55491728
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.35603642
9ELF1_17652178_ChIP-ChIP_JURKAT_Human3.27024257
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.97831707
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.93778331
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.86537571
13ELK1_19687146_ChIP-ChIP_HELA_Human2.85998857
14VDR_23849224_ChIP-Seq_CD4+_Human2.75383914
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.58262861
16FOXP3_21729870_ChIP-Seq_TREG_Human2.51942242
17BP1_19119308_ChIP-ChIP_Hs578T_Human2.48874337
18HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.40593963
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.29542080
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.28839036
21CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.28426375
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.25621193
23MYC_18358816_ChIP-ChIP_MESCs_Mouse2.17590977
24DCP1A_22483619_ChIP-Seq_HELA_Human2.11526302
25E2F1_18555785_ChIP-Seq_MESCs_Mouse2.08492314
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.02708384
27MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.90095321
28FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.87299647
29MYC_19030024_ChIP-ChIP_MESCs_Mouse1.86496642
30GABP_19822575_ChIP-Seq_HepG2_Human1.78411841
31E2F4_17652178_ChIP-ChIP_JURKAT_Human1.77341088
32HOXB4_20404135_ChIP-ChIP_EML_Mouse1.73194482
33ELK1_22589737_ChIP-Seq_MCF10A_Human1.68624366
34PADI4_21655091_ChIP-ChIP_MCF-7_Human1.66012587
35MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.61899312
36NELFA_20434984_ChIP-Seq_ESCs_Mouse1.60146514
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.58637603
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54806436
39MYC_18940864_ChIP-ChIP_HL60_Human1.54369364
40TTF2_22483619_ChIP-Seq_HELA_Human1.54339833
41DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.53761464
42FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.51838984
43XRN2_22483619_ChIP-Seq_HELA_Human1.48470278
44MYC_19079543_ChIP-ChIP_MESCs_Mouse1.43621581
45NANOG_16153702_ChIP-ChIP_HESCs_Human1.38092999
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.36299395
47NANOG_18555785_ChIP-Seq_MESCs_Mouse1.32142637
48VDR_22108803_ChIP-Seq_LS180_Human1.30832016
49IRF1_19129219_ChIP-ChIP_H3396_Human1.29899673
50HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.28894540
51SOX2_18555785_ChIP-Seq_MESCs_Mouse1.27668932
52POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.24438462
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.22849599
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22619909
55TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19655090
56AR_20517297_ChIP-Seq_VCAP_Human1.15599434
57ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15490292
58EWS_26573619_Chip-Seq_HEK293_Human1.14667892
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.12250387
60TAF15_26573619_Chip-Seq_HEK293_Human1.10321207
61YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07807369
62SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06505192
63TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.04018995
64EGR1_23403033_ChIP-Seq_LIVER_Mouse1.03843920
65FUS_26573619_Chip-Seq_HEK293_Human1.03248948
66POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.02382756
67GATA3_21867929_ChIP-Seq_TH1_Mouse1.01880741
68POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01734995
69FOXA1_27270436_Chip-Seq_PROSTATE_Human1.01059001
70FOXA1_25329375_ChIP-Seq_VCAP_Human1.01059001
71BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.96924645
72CIITA_25753668_ChIP-Seq_RAJI_Human0.93462424
73CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.93054619
74NCOR_22424771_ChIP-Seq_293T_Human0.91862131
75ELF5_23300383_ChIP-Seq_T47D_Human0.88928119
76SOX2_16153702_ChIP-ChIP_HESCs_Human0.88696122
77NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.88495694
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.85224193
79FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82933620
80MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.82549730
81SOX2_19829295_ChIP-Seq_ESCs_Human0.82348766
82NANOG_19829295_ChIP-Seq_ESCs_Human0.82348766
83FLI1_27457419_Chip-Seq_LIVER_Mouse0.82133414
84CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.82016511
85KDM5A_27292631_Chip-Seq_BREAST_Human0.81439080
86PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.81147088
87FOXA1_21572438_ChIP-Seq_LNCaP_Human0.81073221
88IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.80795146
89MYCN_18555785_ChIP-Seq_MESCs_Mouse0.79451543
90PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.78357756
91TP53_22573176_ChIP-Seq_HFKS_Human0.77847932
92FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.77262324
93CTCF_18555785_ChIP-Seq_MESCs_Mouse0.77054565
94SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.76279340
95E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.76170607
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.76016367
97ERG_20517297_ChIP-Seq_VCAP_Human0.75850641
98GATA4_25053715_ChIP-Seq_YYC3_Human0.75726130
99PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.75598321
100ERG_20887958_ChIP-Seq_HPC-7_Mouse0.75058912

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode5.51812196
2MP0003806_abnormal_nucleotide_metabolis4.71654567
3MP0001529_abnormal_vocalization2.82476557
4MP0002938_white_spotting2.81896031
5MP0002163_abnormal_gland_morphology2.65135412
6MP0000537_abnormal_urethra_morphology2.61701417
7MP0004133_heterotaxia2.59983038
8MP0006054_spinal_hemorrhage2.52462308
9MP0001666_abnormal_nutrient_absorption2.51703887
10MP0003693_abnormal_embryo_hatching2.42156988
11MP0006072_abnormal_retinal_apoptosis2.29892332
12MP0002638_abnormal_pupillary_reflex2.16764653
13MP0004957_abnormal_blastocyst_morpholog2.07266171
14MP0010030_abnormal_orbit_morphology2.06428573
15MP0001764_abnormal_homeostasis2.05830937
16MP0008877_abnormal_DNA_methylation2.01336759
17MP0008058_abnormal_DNA_repair1.98260196
18MP0000372_irregular_coat_pigmentation1.93117635
19MP0005671_abnormal_response_to1.88838046
20MP0003890_abnormal_embryonic-extraembry1.86465823
21MP0001293_anophthalmia1.86345120
22MP0004147_increased_porphyrin_level1.84978627
23MP0006036_abnormal_mitochondrial_physio1.84587498
24MP0003119_abnormal_digestive_system1.83690430
25MP0005085_abnormal_gallbladder_physiolo1.82164845
26MP0008875_abnormal_xenobiotic_pharmacok1.81339870
27MP0006035_abnormal_mitochondrial_morpho1.79695366
28MP0002277_abnormal_respiratory_mucosa1.71693005
29MP0003786_premature_aging1.64836494
30MP0003567_abnormal_fetal_cardiomyocyte1.61096200
31MP0003880_abnormal_central_pattern1.51568981
32MP0003718_maternal_effect1.46015391
33MP0001905_abnormal_dopamine_level1.43513576
34MP0002132_abnormal_respiratory_system1.38509379
35MP0010386_abnormal_urinary_bladder1.37011033
36MP0003077_abnormal_cell_cycle1.36658964
37MP0005367_renal/urinary_system_phenotyp1.36059040
38MP0000516_abnormal_urinary_system1.36059040
39MP0008789_abnormal_olfactory_epithelium1.34679505
40MP0002160_abnormal_reproductive_system1.33565680
41MP0005379_endocrine/exocrine_gland_phen1.31967654
42MP0008872_abnormal_physiological_respon1.31278292
43MP0002837_dystrophic_cardiac_calcinosis1.26916972
44MP0002102_abnormal_ear_morphology1.25541257
45MP0000049_abnormal_middle_ear1.18122550
46MP0005332_abnormal_amino_acid1.16328692
47MP0002234_abnormal_pharynx_morphology1.14435468
48MP0003122_maternal_imprinting1.13876302
49MP0005365_abnormal_bile_salt1.09852814
50MP0003186_abnormal_redox_activity1.09685480
51MP0000647_abnormal_sebaceous_gland1.09317116
52MP0004264_abnormal_extraembryonic_tissu1.09228755
53MP0004019_abnormal_vitamin_homeostasis1.07587253
54MP0009333_abnormal_splenocyte_physiolog1.00430798
55MP0010234_abnormal_vibrissa_follicle0.99993431
56MP0003111_abnormal_nucleus_morphology0.99660020
57MP0009765_abnormal_xenobiotic_induced0.99376036
58MP0002736_abnormal_nociception_after0.97228281
59MP0005646_abnormal_pituitary_gland0.96221568
60MP0001286_abnormal_eye_development0.94281213
61MP0000631_abnormal_neuroendocrine_gland0.94233831
62MP0003938_abnormal_ear_development0.94079156
63MP0009379_abnormal_foot_pigmentation0.93965061
64MP0005389_reproductive_system_phenotype0.92358430
65MP0003252_abnormal_bile_duct0.89640363
66MP0001119_abnormal_female_reproductive0.87117891
67MP0008932_abnormal_embryonic_tissue0.86447104
68MP0003646_muscle_fatigue0.84159875
69MP0003878_abnormal_ear_physiology0.84105762
70MP0005377_hearing/vestibular/ear_phenot0.84105762
71MP0001485_abnormal_pinna_reflex0.79946786
72MP0003137_abnormal_impulse_conducting0.79696062
73MP0003937_abnormal_limbs/digits/tail_de0.79567406
74MP0005408_hypopigmentation0.79416893
75MP0005636_abnormal_mineral_homeostasis0.79009212
76MP0005084_abnormal_gallbladder_morpholo0.78672974
77MP0003866_abnormal_defecation0.77754138
78MP0003121_genomic_imprinting0.76830519
79MP0003315_abnormal_perineum_morphology0.75506722
80MP0002233_abnormal_nose_morphology0.74914566
81MP0008873_increased_physiological_sensi0.74828035
82MP0008007_abnormal_cellular_replicative0.74797878
83MP0005670_abnormal_white_adipose0.72382761
84MP0010094_abnormal_chromosome_stability0.72057837
85MP0005253_abnormal_eye_physiology0.71350427
86MP0003763_abnormal_thymus_physiology0.71147687
87MP0005319_abnormal_enzyme/_coenzyme0.70235381
88MP0000538_abnormal_urinary_bladder0.66370379
89MP0002210_abnormal_sex_determination0.65429610
90MP0004134_abnormal_chest_morphology0.63108337
91MP0005075_abnormal_melanosome_morpholog0.62973634
92MP0000613_abnormal_salivary_gland0.62787452
93MP0001730_embryonic_growth_arrest0.61317283
94MP0008995_early_reproductive_senescence0.61232564
95MP0003195_calcinosis0.60846513
96MP0000428_abnormal_craniofacial_morphol0.60615592
97MP0005083_abnormal_biliary_tract0.60434328
98MP0000477_abnormal_intestine_morphology0.58629996
99MP0002084_abnormal_developmental_patter0.58464151
100MP0001756_abnormal_urination0.57822081

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.00857072
2Abnormal mitochondria in muscle tissue (HP:0008316)4.55537300
3Mitochondrial inheritance (HP:0001427)4.44901381
4Acute encephalopathy (HP:0006846)4.27582712
5Increased CSF lactate (HP:0002490)4.13840407
6Progressive macrocephaly (HP:0004481)4.11546122
7Methylmalonic aciduria (HP:0012120)3.92483437
8Increased hepatocellular lipid droplets (HP:0006565)3.90462125
9Lipid accumulation in hepatocytes (HP:0006561)3.70129349
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.54148721
11Decreased activity of mitochondrial respiratory chain (HP:0008972)3.54148721
12Hepatocellular necrosis (HP:0001404)3.47286134
13Methylmalonic acidemia (HP:0002912)3.45872618
14Renal Fanconi syndrome (HP:0001994)3.45013311
15Increased intramyocellular lipid droplets (HP:0012240)3.40597813
16Stenosis of the external auditory canal (HP:0000402)3.37015387
17Cerebral edema (HP:0002181)3.34157831
18Hepatic necrosis (HP:0002605)3.28980277
19Conjunctival hamartoma (HP:0100780)3.26134054
20Type I transferrin isoform profile (HP:0003642)3.19957884
21Short tibia (HP:0005736)3.16856602
22Increased muscle lipid content (HP:0009058)2.91502634
23Septo-optic dysplasia (HP:0100842)2.89732014
24Aplasia/Hypoplasia of the tibia (HP:0005772)2.85664187
25IgM deficiency (HP:0002850)2.70154071
26Lethargy (HP:0001254)2.68110274
27Lactic acidosis (HP:0003128)2.66880005
28Hypoplastic pelvis (HP:0008839)2.64787233
293-Methylglutaconic aciduria (HP:0003535)2.62330860
30Generalized aminoaciduria (HP:0002909)2.59061776
31Palpitations (HP:0001962)2.55982471
32Dicarboxylic aciduria (HP:0003215)2.54318823
33Abnormality of dicarboxylic acid metabolism (HP:0010995)2.54318823
34Hyperglycinemia (HP:0002154)2.50980290
35Abnormality of urine glucose concentration (HP:0011016)2.49588635
36Glycosuria (HP:0003076)2.49588635
37Respiratory difficulties (HP:0002880)2.48287342
38Abnormality of serum amino acid levels (HP:0003112)2.48001392
39Abnormality of alanine metabolism (HP:0010916)2.46413796
40Hyperalaninemia (HP:0003348)2.46413796
41Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.46413796
42Abnormality of the phalanges of the 2nd finger (HP:0009541)2.44929002
43Optic disc pallor (HP:0000543)2.44873865
44Increased serum lactate (HP:0002151)2.44000688
45Congenital, generalized hypertrichosis (HP:0004540)2.43716239
46Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.40756702
47Abnormal protein N-linked glycosylation (HP:0012347)2.40756702
48Abnormal protein glycosylation (HP:0012346)2.40756702
49Abnormal glycosylation (HP:0012345)2.40756702
50Nausea (HP:0002018)2.37199368
51Respiratory failure (HP:0002878)2.33719855
52Abnormality of midbrain morphology (HP:0002418)2.32400539
53Molar tooth sign on MRI (HP:0002419)2.32400539
54Leukodystrophy (HP:0002415)2.28630848
55Exercise intolerance (HP:0003546)2.24921000
56Abnormality of vitamin B metabolism (HP:0004340)2.24613040
57Abnormality of the vitamin B12 metabolism (HP:0004341)2.24093801
58Exertional dyspnea (HP:0002875)2.23574594
59Carpal bone hypoplasia (HP:0001498)2.19744048
60Abnormality of renal resorption (HP:0011038)2.18460833
61Pancreatic cysts (HP:0001737)2.18257057
62Adrenal hypoplasia (HP:0000835)2.13972385
63B lymphocytopenia (HP:0010976)2.12757524
64Meningioma (HP:0002858)2.10125269
65Nephronophthisis (HP:0000090)2.09850796
66Abnormality of B cell number (HP:0010975)2.08409798
67Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.03711190
68Renal cortical cysts (HP:0000803)2.02793041
69True hermaphroditism (HP:0010459)2.02651635
70Abnormality of the fetal cardiovascular system (HP:0010948)1.98803814
71Abnormal umbilical cord blood vessels (HP:0011403)1.98803814
72Single umbilical artery (HP:0001195)1.98803814
73Hypoplasia of the uterus (HP:0000013)1.98271023
74Aplasia/hypoplasia of the uterus (HP:0008684)1.97827156
75CNS demyelination (HP:0007305)1.97650593
76T lymphocytopenia (HP:0005403)1.96623055
77X-linked dominant inheritance (HP:0001423)1.96604664
78Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.95829311
79Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.94444653
80Eosinophilia (HP:0001880)1.94026625
81Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.93032262
82Oral leukoplakia (HP:0002745)1.91978125
83Abnormality of aspartate family amino acid metabolism (HP:0010899)1.91113015
84Absent septum pellucidum (HP:0001331)1.90323141
85Abnormality of T cell number (HP:0011839)1.86330869
86Pancreatic fibrosis (HP:0100732)1.84950108
87Microretrognathia (HP:0000308)1.84149483
88Abnormality of the phalanges of the 5th finger (HP:0004213)1.83806717
89Hypokinesia (HP:0002375)1.81701425
90Abnormality of the proximal phalanges of the hand (HP:0009834)1.80884307
91Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.80739036
92Hyperphosphaturia (HP:0003109)1.80097102
93Abnormality of T cells (HP:0002843)1.78956264
94Macrocytic anemia (HP:0001972)1.78843793
95Short 1st metacarpal (HP:0010034)1.78393731
96Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.78393731
97Aplastic anemia (HP:0001915)1.77231145
98Poor speech (HP:0002465)1.76717577
99Colon cancer (HP:0003003)1.74645200
100Tinnitus (HP:0000360)1.74592839

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK3.64537137
2MST43.60375015
3EIF2AK33.47456509
4NME23.28910515
5STK163.19486002
6PDK22.96193827
7VRK22.90369746
8NEK12.70108106
9EIF2AK12.67555124
10SRPK12.51608513
11MAP3K122.51046686
12PBK2.07409340
13BUB11.98717166
14TESK11.86197331
15TRIM281.85343441
16LIMK11.74205706
17CDK191.63096243
18TESK21.61281533
19CSNK1G31.51019199
20KDR1.49735254
21NUAK11.48258099
22GRK11.47662501
23ZAK1.47392237
24WNK31.41047871
25MAP4K21.36812524
26CSNK1A1L1.28108072
27PAK41.27956364
28INSRR1.27462774
29PLK41.21040203
30NME11.16238802
31TNIK1.09431500
32VRK11.09179952
33TXK1.07254605
34MAP2K71.07245834
35CSNK1G21.07146019
36CSNK1G11.05085158
37EIF2AK21.04084202
38PLK30.98344394
39PINK10.98280826
40OXSR10.97757400
41TTK0.97644130
42BMPR1B0.94854103
43WEE10.94188022
44RPS6KA40.94033876
45EPHA20.91896951
46MYLK0.89293524
47BRSK20.87623824
48DYRK20.83247728
49PLK20.80684278
50PLK10.80625608
51BCR0.80079756
52MKNK20.77040105
53MKNK10.74478464
54EPHA30.72041248
55FRK0.69131246
56DAPK10.66677907
57MAP3K40.65737164
58LMTK20.64239113
59TLK10.62769259
60PRKCE0.61109974
61AURKB0.60576346
62PIM20.57885805
63RPS6KA50.57776290
64FGFR10.57613946
65RIPK40.55915869
66MAPKAPK30.53892842
67CSNK2A10.52503657
68STK390.49744036
69ARAF0.47554452
70FER0.46423031
71BRSK10.46137889
72PASK0.45903059
73PTK60.45708916
74CSNK1A10.45704329
75CSNK2A20.45340373
76TAF10.44334618
77PRKCQ0.42715832
78CDK30.42504805
79NEK20.42215643
80AURKA0.40576713
81FES0.39767528
82PRKG20.39754230
83MAPK130.39558504
84CAMK2G0.39074276
85ADRBK20.37379816
86CDK90.37051160
87PRKCI0.34263118
88PRKD20.34217555
89IGF1R0.34026259
90CASK0.33473258
91LCK0.33137720
92AKT20.32322895
93CDC70.31433477
94ACVR1B0.30902867
95PRKCA0.29446574
96ERBB40.29356893
97EGFR0.29194027
98CHEK20.28965442
99CLK10.28564523
100CDK11A0.28252176

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.21219400
2Protein export_Homo sapiens_hsa030603.89288982
3Oxidative phosphorylation_Homo sapiens_hsa001903.82663560
4Parkinsons disease_Homo sapiens_hsa050123.33696652
5Ribosome_Homo sapiens_hsa030103.11237424
6RNA polymerase_Homo sapiens_hsa030202.81850075
7Huntingtons disease_Homo sapiens_hsa050162.40141327
8Alzheimers disease_Homo sapiens_hsa050102.16381826
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.07901610
10Pentose and glucuronate interconversions_Homo sapiens_hsa000401.98536005
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.97483833
12Mismatch repair_Homo sapiens_hsa034301.91020008
13Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.82949395
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.73859460
15Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.64039668
16Pyrimidine metabolism_Homo sapiens_hsa002401.61184163
17DNA replication_Homo sapiens_hsa030301.59923750
18Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.58549653
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.56366535
20Homologous recombination_Homo sapiens_hsa034401.50408400
21Glutathione metabolism_Homo sapiens_hsa004801.49131423
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.47305841
23Chemical carcinogenesis_Homo sapiens_hsa052041.47288308
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.46908075
25Base excision repair_Homo sapiens_hsa034101.39065228
26Steroid hormone biosynthesis_Homo sapiens_hsa001401.38578919
27Spliceosome_Homo sapiens_hsa030401.38416532
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.34469470
29Cardiac muscle contraction_Homo sapiens_hsa042601.27968520
30Fanconi anemia pathway_Homo sapiens_hsa034601.21252470
31Sulfur metabolism_Homo sapiens_hsa009201.21159561
32Retinol metabolism_Homo sapiens_hsa008301.21132802
33Nucleotide excision repair_Homo sapiens_hsa034201.16439923
34Vitamin digestion and absorption_Homo sapiens_hsa049771.15471215
35Basal transcription factors_Homo sapiens_hsa030221.13566252
36Propanoate metabolism_Homo sapiens_hsa006401.10557433
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.06677340
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.05967362
39Fat digestion and absorption_Homo sapiens_hsa049751.05689761
40Purine metabolism_Homo sapiens_hsa002301.05582734
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.05380723
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.04260204
43Primary immunodeficiency_Homo sapiens_hsa053401.03937616
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03599400
45Folate biosynthesis_Homo sapiens_hsa007901.03484739
46Peroxisome_Homo sapiens_hsa041461.02049606
47RNA transport_Homo sapiens_hsa030131.01291010
48Caffeine metabolism_Homo sapiens_hsa002320.97122562
49One carbon pool by folate_Homo sapiens_hsa006700.93647354
50RNA degradation_Homo sapiens_hsa030180.91576552
51Steroid biosynthesis_Homo sapiens_hsa001000.88304768
52Metabolic pathways_Homo sapiens_hsa011000.86644011
53Fatty acid elongation_Homo sapiens_hsa000620.84427846
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.78834689
55Pyruvate metabolism_Homo sapiens_hsa006200.77483139
56Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.76791160
57Collecting duct acid secretion_Homo sapiens_hsa049660.72301648
58Arachidonic acid metabolism_Homo sapiens_hsa005900.65150266
59Fatty acid degradation_Homo sapiens_hsa000710.64048780
60Tryptophan metabolism_Homo sapiens_hsa003800.63301756
61Primary bile acid biosynthesis_Homo sapiens_hsa001200.62817990
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.60927297
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.60526951
64Sulfur relay system_Homo sapiens_hsa041220.60169174
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.60107271
66p53 signaling pathway_Homo sapiens_hsa041150.59316212
67Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56699980
68Mineral absorption_Homo sapiens_hsa049780.55926107
69Renin-angiotensin system_Homo sapiens_hsa046140.54049327
70Pancreatic secretion_Homo sapiens_hsa049720.53721472
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.52651932
72Phototransduction_Homo sapiens_hsa047440.51266981
73Vibrio cholerae infection_Homo sapiens_hsa051100.50882544
74Selenocompound metabolism_Homo sapiens_hsa004500.50287457
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.49411538
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.49265689
77Rheumatoid arthritis_Homo sapiens_hsa053230.49005988
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47256961
79Carbon metabolism_Homo sapiens_hsa012000.46946044
80Glycerolipid metabolism_Homo sapiens_hsa005610.45753277
81Antigen processing and presentation_Homo sapiens_hsa046120.44855597
82Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44746144
83Cell cycle_Homo sapiens_hsa041100.44715911
84Ether lipid metabolism_Homo sapiens_hsa005650.41898374
85Glycosaminoglycan degradation_Homo sapiens_hsa005310.41876648
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40609982
87Protein digestion and absorption_Homo sapiens_hsa049740.39383982
88Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.39154323
89TGF-beta signaling pathway_Homo sapiens_hsa043500.39102178
90Starch and sucrose metabolism_Homo sapiens_hsa005000.38727508
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38533605
92N-Glycan biosynthesis_Homo sapiens_hsa005100.36419726
93Fructose and mannose metabolism_Homo sapiens_hsa000510.36321841
94NF-kappa B signaling pathway_Homo sapiens_hsa040640.35788819
95Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35114952
96Epstein-Barr virus infection_Homo sapiens_hsa051690.33716861
97Biosynthesis of amino acids_Homo sapiens_hsa012300.32866117
98Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.30696838
99Tyrosine metabolism_Homo sapiens_hsa003500.30526439
100Oocyte meiosis_Homo sapiens_hsa041140.30413484

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