NPM1P48

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
1DNA deamination (GO:0045006)5.54384428
2positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)5.21598528
3regulation of isotype switching to IgG isotypes (GO:0048302)4.83515913
4proteasome assembly (GO:0043248)4.80572619
5regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)4.68298515
6maturation of 5.8S rRNA (GO:0000460)4.65493997
7ribosome assembly (GO:0042255)4.16682140
8negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.13221386
9water-soluble vitamin biosynthetic process (GO:0042364)4.00078663
10regulation of cellular amino acid metabolic process (GO:0006521)3.99673898
11rRNA modification (GO:0000154)3.88633523
12DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.83883861
13chaperone-mediated protein transport (GO:0072321)3.83147362
14signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.79199614
15signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.79199614
16signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.79199614
17positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.78352610
18respiratory chain complex IV assembly (GO:0008535)3.78058931
19pseudouridine synthesis (GO:0001522)3.77039304
20negative regulation of ligase activity (GO:0051352)3.74663502
21negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.74663502
22signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.74371300
23intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.74371300
24establishment of protein localization to mitochondrial membrane (GO:0090151)3.73980826
25regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.68562228
26DNA double-strand break processing (GO:0000729)3.68111009
27regulation of immunoglobulin secretion (GO:0051023)3.67509889
28exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.66871376
29chromatin remodeling at centromere (GO:0031055)3.63866602
30CENP-A containing nucleosome assembly (GO:0034080)3.62198398
31signal transduction involved in DNA integrity checkpoint (GO:0072401)3.60865665
32signal transduction involved in DNA damage checkpoint (GO:0072422)3.60865665
33nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.60302631
34positive regulation of isotype switching (GO:0045830)3.58863422
35positive regulation of DNA recombination (GO:0045911)3.57698377
36somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.55759652
37isotype switching (GO:0045190)3.55759652
38somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.55759652
39signal transduction involved in cell cycle checkpoint (GO:0072395)3.54787539
40mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.54470263
41regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.54409031
42cullin deneddylation (GO:0010388)3.52634766
43energy coupled proton transport, down electrochemical gradient (GO:0015985)3.48606898
44ATP synthesis coupled proton transport (GO:0015986)3.48606898
45rRNA methylation (GO:0031167)3.47949944
46protein deneddylation (GO:0000338)3.45430728
47regulation of podosome assembly (GO:0071801)3.44343667
48protein K6-linked ubiquitination (GO:0085020)3.41355994
49anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.37991494
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.37601317
51DNA catabolic process, exonucleolytic (GO:0000738)3.35199907
52protein neddylation (GO:0045116)3.32830378
53positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.27829788
54termination of RNA polymerase III transcription (GO:0006386)3.26350342
55transcription elongation from RNA polymerase III promoter (GO:0006385)3.26350342
56positive regulation of interleukin-17 production (GO:0032740)3.25899652
57RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.25306158
58cytochrome complex assembly (GO:0017004)3.15378467
59positive regulation of ligase activity (GO:0051351)3.10706216
60cytidine deamination (GO:0009972)3.07276723
61cytidine metabolic process (GO:0046087)3.07276723
62cytidine catabolic process (GO:0006216)3.07276723
63histone exchange (GO:0043486)3.06672194
64mitochondrial respiratory chain complex assembly (GO:0033108)3.04349042
65antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.00600050
66protein complex biogenesis (GO:0070271)3.00569709
67tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.96597258
68RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.96597258
69regulation of cellular amine metabolic process (GO:0033238)2.95564525
70platelet dense granule organization (GO:0060155)2.93762758
71negative regulation of DNA-dependent DNA replication (GO:2000104)2.89939605
72protein targeting to mitochondrion (GO:0006626)2.87085335
73amino acid salvage (GO:0043102)2.86851484
74L-methionine salvage (GO:0071267)2.86851484
75L-methionine biosynthetic process (GO:0071265)2.86851484
76nucleobase biosynthetic process (GO:0046112)2.84771986
77regulation of ubiquitin-protein transferase activity (GO:0051438)2.83214828
78rRNA processing (GO:0006364)2.81537855
79positive regulation of cell cycle arrest (GO:0071158)2.81015571
80DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.80893394
81mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.79751826
82mitochondrial respiratory chain complex I assembly (GO:0032981)2.79751826
83NADH dehydrogenase complex assembly (GO:0010257)2.79751826
84purine nucleobase biosynthetic process (GO:0009113)2.78330355
85GTP biosynthetic process (GO:0006183)2.78193587
86termination of RNA polymerase I transcription (GO:0006363)2.77766760
87antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.77636889
88ribosomal large subunit biogenesis (GO:0042273)2.76581011
89response to pheromone (GO:0019236)2.76348320
90DNA damage response, detection of DNA damage (GO:0042769)2.75307410
91IMP biosynthetic process (GO:0006188)2.74736457
92rRNA metabolic process (GO:0016072)2.73685525
93ribosome biogenesis (GO:0042254)2.71505438
94branched-chain amino acid catabolic process (GO:0009083)2.71251936
95regulation of ligase activity (GO:0051340)2.70736601
96transcription elongation from RNA polymerase I promoter (GO:0006362)2.70693877
97mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.68593233
98spliceosomal snRNP assembly (GO:0000387)2.66191590
99tRNA processing (GO:0008033)2.65550436
100establishment of protein localization to mitochondrion (GO:0072655)2.65463031

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.07946523
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.37613400
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.73118887
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.66046650
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.99002114
6VDR_22108803_ChIP-Seq_LS180_Human2.92167800
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.85149177
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.78813917
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.74197381
10VDR_23849224_ChIP-Seq_CD4+_Human2.71703290
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.70040898
12ELF1_17652178_ChIP-ChIP_JURKAT_Human2.68835192
13MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.65985369
14E2F7_22180533_ChIP-Seq_HELA_Human2.65942700
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.56478285
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.50223356
17ELK1_19687146_ChIP-ChIP_HELA_Human2.47410945
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.37225369
19ZNF274_21170338_ChIP-Seq_K562_Hela2.37061691
20FOXP3_21729870_ChIP-Seq_TREG_Human2.30992846
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.23704442
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18710483
23PCGF2_27294783_Chip-Seq_ESCs_Mouse2.14612799
24SRF_21415370_ChIP-Seq_HL-1_Mouse2.14192501
25EWS_26573619_Chip-Seq_HEK293_Human2.03468489
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.94096983
27FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.83984927
28MYC_18940864_ChIP-ChIP_HL60_Human1.79375609
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.71772281
30NOTCH1_21737748_ChIP-Seq_TLL_Human1.69403072
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.65811256
32PCGF2_27294783_Chip-Seq_NPCs_Mouse1.65193585
33MYC_18358816_ChIP-ChIP_MESCs_Mouse1.64327987
34SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.56173963
35HOXB4_20404135_ChIP-ChIP_EML_Mouse1.52532383
36DCP1A_22483619_ChIP-Seq_HELA_Human1.49892320
37CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.49459592
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.48346818
39CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.44724761
40SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40400596
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.39923981
42TP53_22573176_ChIP-Seq_HFKS_Human1.38742789
43IRF1_19129219_ChIP-ChIP_H3396_Human1.36400861
44GABP_19822575_ChIP-Seq_HepG2_Human1.33881612
45TTF2_22483619_ChIP-Seq_HELA_Human1.31549774
46E2F1_18555785_ChIP-Seq_MESCs_Mouse1.31399166
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30810453
48IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.29798186
49GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.25896989
50MYC_19079543_ChIP-ChIP_MESCs_Mouse1.24437528
51FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.23980150
52EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.23925819
53IGF1R_20145208_ChIP-Seq_DFB_Human1.23657622
54FUS_26573619_Chip-Seq_HEK293_Human1.23413419
55PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.23269734
56GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.22318766
57FOXA1_27270436_Chip-Seq_PROSTATE_Human1.21656659
58FOXA1_25329375_ChIP-Seq_VCAP_Human1.21656659
59IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.20012706
60SOX2_19829295_ChIP-Seq_ESCs_Human1.18630360
61NANOG_19829295_ChIP-Seq_ESCs_Human1.18630360
62SALL1_21062744_ChIP-ChIP_HESCs_Human1.18075723
63IRF8_22096565_ChIP-ChIP_GC-B_Human1.16696835
64FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16270287
65TAF15_26573619_Chip-Seq_HEK293_Human1.16006705
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.14730506
67YY1_21170310_ChIP-Seq_MESCs_Mouse1.13563087
68SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.13456651
69P300_19829295_ChIP-Seq_ESCs_Human1.13311398
70KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.10668229
71YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06846232
72ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.06573930
73MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06517696
74AR_20517297_ChIP-Seq_VCAP_Human1.04765218
75CRX_20693478_ChIP-Seq_RETINA_Mouse1.02693732
76CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.01921537
77GATA3_26560356_Chip-Seq_TH2_Human1.01000382
78POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.00907697
79CTBP1_25329375_ChIP-Seq_LNCAP_Human0.99403875
80HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.98174964
81FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97367518
82AUTS2_25519132_ChIP-Seq_293T-REX_Human0.97256406
83FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97076658
84NCOR_22424771_ChIP-Seq_293T_Human0.96187392
85FOXA1_21572438_ChIP-Seq_LNCaP_Human0.94894390
86POU5F1_16153702_ChIP-ChIP_HESCs_Human0.94202866
87BP1_19119308_ChIP-ChIP_Hs578T_Human0.94173744
88MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93287970
89ER_23166858_ChIP-Seq_MCF-7_Human0.92904045
90ELK1_22589737_ChIP-Seq_MCF10A_Human0.92777650
91PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.91249465
92EGR1_23403033_ChIP-Seq_LIVER_Mouse0.91141609
93HOXB7_26014856_ChIP-Seq_BT474_Human0.90934905
94ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.90371159
95NELFA_20434984_ChIP-Seq_ESCs_Mouse0.87426063
96SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.85313160
97CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.83648341
98STAT3_18555785_Chip-Seq_ESCs_Mouse0.83408319
99CBP_20019798_ChIP-Seq_JUKART_Human0.82523709
100IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.82523709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.15180045
2MP0008877_abnormal_DNA_methylation3.23287840
3MP0005084_abnormal_gallbladder_morpholo3.13642657
4MP0001873_stomach_inflammation3.11609703
5MP0002102_abnormal_ear_morphology2.87661245
6MP0008058_abnormal_DNA_repair2.72980252
7MP0008872_abnormal_physiological_respon2.60613050
8MP0006292_abnormal_olfactory_placode2.57027616
9MP0005671_abnormal_response_to2.47458605
10MP0004147_increased_porphyrin_level2.44915638
11MP0003195_calcinosis2.39097403
12MP0003718_maternal_effect2.30232425
13MP0010094_abnormal_chromosome_stability2.20048746
14MP0003786_premature_aging2.19091769
15MP0004782_abnormal_surfactant_physiolog2.12422309
16MP0009333_abnormal_splenocyte_physiolog2.08668007
17MP0003693_abnormal_embryo_hatching2.05339897
18MP0008875_abnormal_xenobiotic_pharmacok2.04978552
19MP0006036_abnormal_mitochondrial_physio1.97914558
20MP0002138_abnormal_hepatobiliary_system1.94944755
21MP0001188_hyperpigmentation1.93786097
22MP0004957_abnormal_blastocyst_morpholog1.89481683
23MP0009785_altered_susceptibility_to1.81463916
24MP0001984_abnormal_olfaction1.72875892
25MP0003880_abnormal_central_pattern1.69380292
26MP0002148_abnormal_hypersensitivity_rea1.62724340
27MP0008007_abnormal_cellular_replicative1.62112280
28MP0005645_abnormal_hypothalamus_physiol1.58390437
29MP0006035_abnormal_mitochondrial_morpho1.57544863
30MP0005646_abnormal_pituitary_gland1.56183609
31MP0001800_abnormal_humoral_immune1.52920872
32MP0003806_abnormal_nucleotide_metabolis1.52459812
33MP0002736_abnormal_nociception_after1.49055410
34MP0003186_abnormal_redox_activity1.47464140
35MP0005387_immune_system_phenotype1.46707602
36MP0001790_abnormal_immune_system1.46707602
37MP0003111_abnormal_nucleus_morphology1.45189366
38MP0001968_abnormal_touch/_nociception1.44249196
39MP0006072_abnormal_retinal_apoptosis1.43209644
40MP0002837_dystrophic_cardiac_calcinosis1.42073804
41MP0002876_abnormal_thyroid_physiology1.40084984
42MP0005551_abnormal_eye_electrophysiolog1.39912095
43MP0004145_abnormal_muscle_electrophysio1.37468816
44MP0005000_abnormal_immune_tolerance1.37037187
45MP0001986_abnormal_taste_sensitivity1.32289461
46MP0000372_irregular_coat_pigmentation1.26873279
47MP0003077_abnormal_cell_cycle1.23986170
48MP0001853_heart_inflammation1.20509276
49MP0004215_abnormal_myocardial_fiber1.20385662
50MP0003567_abnormal_fetal_cardiomyocyte1.20227259
51MP0001764_abnormal_homeostasis1.16598323
52MP0002166_altered_tumor_susceptibility1.13726095
53MP0002006_tumorigenesis1.12263747
54MP0000685_abnormal_immune_system1.11714595
55MP0009697_abnormal_copulation1.09280184
56MP0005075_abnormal_melanosome_morpholog1.08773499
57MP0002405_respiratory_system_inflammati1.07019690
58MP0002277_abnormal_respiratory_mucosa1.06894062
59MP0005410_abnormal_fertilization1.05041832
60MP0001529_abnormal_vocalization1.03180335
61MP0003646_muscle_fatigue1.01113956
62MP0002723_abnormal_immune_serum1.00125444
63MP0001881_abnormal_mammary_gland0.99928137
64MP0001293_anophthalmia0.99370995
65MP0002160_abnormal_reproductive_system0.99284444
66MP0002751_abnormal_autonomic_nervous0.96231193
67MP0002420_abnormal_adaptive_immunity0.94458095
68MP0000689_abnormal_spleen_morphology0.92577108
69MP0003136_yellow_coat_color0.91496129
70MP0005253_abnormal_eye_physiology0.91381181
71MP0004885_abnormal_endolymph0.91107086
72MP0001819_abnormal_immune_cell0.89594392
73MP0002210_abnormal_sex_determination0.88589721
74MP0002452_abnormal_antigen_presenting0.87783122
75MP0010307_abnormal_tumor_latency0.87730218
76MP0002282_abnormal_trachea_morphology0.87336074
77MP0005389_reproductive_system_phenotype0.86807989
78MP0001929_abnormal_gametogenesis0.86236101
79MP0005636_abnormal_mineral_homeostasis0.85819440
80MP0003011_delayed_dark_adaptation0.83081816
81MP0005085_abnormal_gallbladder_physiolo0.81728285
82MP0001661_extended_life_span0.81506300
83MP0005395_other_phenotype0.81129371
84MP0002019_abnormal_tumor_incidence0.80118967
85MP0001119_abnormal_female_reproductive0.79598018
86MP0003866_abnormal_defecation0.77122212
87MP0005332_abnormal_amino_acid0.76512966
88MP0010155_abnormal_intestine_physiology0.75334150
89MP0003252_abnormal_bile_duct0.74045623
90MP0001485_abnormal_pinna_reflex0.73923976
91MP0002693_abnormal_pancreas_physiology0.73649511
92MP0002398_abnormal_bone_marrow0.71773530
93MP0002234_abnormal_pharynx_morphology0.71318115
94MP0001845_abnormal_inflammatory_respons0.70961472
95MP0003936_abnormal_reproductive_system0.70171441
96MP0002396_abnormal_hematopoietic_system0.70014635
97MP0000653_abnormal_sex_gland0.69647318
98MP0003950_abnormal_plasma_membrane0.69159960
99MP0005310_abnormal_salivary_gland0.67599365
100MP0002272_abnormal_nervous_system0.67340346

Predicted human phenotypes

RankGene SetZ-score
1Stomatitis (HP:0010280)3.93526916
23-Methylglutaconic aciduria (HP:0003535)3.81231118
3Increased hepatocellular lipid droplets (HP:0006565)3.68972486
4Increased CSF lactate (HP:0002490)3.65766233
5Mitochondrial inheritance (HP:0001427)3.54956995
6Acute necrotizing encephalopathy (HP:0006965)3.51693860
7Lipid accumulation in hepatocytes (HP:0006561)3.49720367
8Abnormality of the pons (HP:0007361)3.47529502
9Acute encephalopathy (HP:0006846)3.25568260
10Abnormal mitochondria in muscle tissue (HP:0008316)3.05781372
11Increased serum lactate (HP:0002151)3.03930742
12Hepatocellular necrosis (HP:0001404)2.98787857
13Hypoplasia of the pons (HP:0012110)2.96057460
14Progressive macrocephaly (HP:0004481)2.95471742
15Congenital stationary night blindness (HP:0007642)2.94803850
16Pancreatic cysts (HP:0001737)2.90636529
17IgG deficiency (HP:0004315)2.88469477
18Exertional dyspnea (HP:0002875)2.87874982
19Hepatic necrosis (HP:0002605)2.83684924
20Decreased central vision (HP:0007663)2.83607312
21Aplastic anemia (HP:0001915)2.83410614
22Renal Fanconi syndrome (HP:0001994)2.76407098
23Methylmalonic acidemia (HP:0002912)2.68203081
24Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.63217119
25Absent rod-and cone-mediated responses on ERG (HP:0007688)2.58109891
26Cerebral edema (HP:0002181)2.57567497
27Aplasia/hypoplasia of the uterus (HP:0008684)2.54196484
28Congenital, generalized hypertrichosis (HP:0004540)2.51626388
29Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.48649844
30Hyperglycinuria (HP:0003108)2.46961056
31Lactic acidosis (HP:0003128)2.45411453
32Abnormality of aspartate family amino acid metabolism (HP:0010899)2.44743764
33Cerebral hypomyelination (HP:0006808)2.44503689
34Type II lissencephaly (HP:0007260)2.42743332
35Colon cancer (HP:0003003)2.41252474
36Increased IgM level (HP:0003496)2.40601080
37Increased intramyocellular lipid droplets (HP:0012240)2.39638670
38Abnormal rod and cone electroretinograms (HP:0008323)2.35800833
39Decreased activity of mitochondrial respiratory chain (HP:0008972)2.33112621
40Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.33112621
41Abolished electroretinogram (ERG) (HP:0000550)2.27972711
42Decreased electroretinogram (ERG) amplitude (HP:0000654)2.24567571
43Methylmalonic aciduria (HP:0012120)2.23178349
44Optic disc pallor (HP:0000543)2.23137467
45Pancreatic fibrosis (HP:0100732)2.22578014
46Lethargy (HP:0001254)2.22280023
47Attenuation of retinal blood vessels (HP:0007843)2.20154163
48Large for gestational age (HP:0001520)2.18779941
49Increased serum pyruvate (HP:0003542)2.18385480
50Abnormality of alanine metabolism (HP:0010916)2.16672990
51Hyperalaninemia (HP:0003348)2.16672990
52Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.16672990
53Abnormality of methionine metabolism (HP:0010901)2.15852976
54Respiratory difficulties (HP:0002880)2.14050492
55Abnormality of serine family amino acid metabolism (HP:0010894)2.04884858
56Abnormality of glycine metabolism (HP:0010895)2.04884858
57Progressive microcephaly (HP:0000253)2.04702649
58Severe combined immunodeficiency (HP:0004430)2.04509219
59Exercise intolerance (HP:0003546)2.02304204
60Respiratory failure (HP:0002878)2.01890523
61Increased muscle lipid content (HP:0009058)2.01716052
62Abnormality of serum amino acid levels (HP:0003112)2.00318828
63True hermaphroditism (HP:0010459)1.99830959
64Aplasia/Hypoplasia of the uvula (HP:0010293)1.99436665
65Meckel diverticulum (HP:0002245)1.98327833
66Abnormality of the renal cortex (HP:0011035)1.96860191
67Fibular aplasia (HP:0002990)1.94591909
68Oral leukoplakia (HP:0002745)1.93244141
69Pendular nystagmus (HP:0012043)1.92894498
70Abnormality of the ileum (HP:0001549)1.92644157
71Abnormality of midbrain morphology (HP:0002418)1.92588280
72Molar tooth sign on MRI (HP:0002419)1.92588280
73Type I transferrin isoform profile (HP:0003642)1.91672566
74Chronic sinusitis (HP:0011109)1.89188110
75Abnormality of T cell physiology (HP:0011840)1.88945799
76Nephronophthisis (HP:0000090)1.86334488
77CNS demyelination (HP:0007305)1.84934938
78Abnormality of the prostate (HP:0008775)1.83579483
79IgA deficiency (HP:0002720)1.83506526
80Microvesicular hepatic steatosis (HP:0001414)1.83411834
81Adactyly (HP:0009776)1.82476834
82Pancytopenia (HP:0001876)1.81394008
83Abnormality of T cells (HP:0002843)1.80900676
84Duplicated collecting system (HP:0000081)1.80509354
85Constricted visual fields (HP:0001133)1.78583804
86Abnormality of T cell number (HP:0011839)1.77355787
87Duodenal stenosis (HP:0100867)1.77165246
88Small intestinal stenosis (HP:0012848)1.77165246
89Polydipsia (HP:0001959)1.76802603
90Abnormal drinking behavior (HP:0030082)1.76802603
91Abnormality of urine glucose concentration (HP:0011016)1.75999895
92Glycosuria (HP:0003076)1.75999895
93Elevated erythrocyte sedimentation rate (HP:0003565)1.75792960
94Thyroiditis (HP:0100646)1.75585315
95Abnormality of the vitamin B12 metabolism (HP:0004341)1.75218907
96Abnormality of the labia minora (HP:0012880)1.74944021
97Abnormal spermatogenesis (HP:0008669)1.74561627
98Leukodystrophy (HP:0002415)1.74058081
99Abnormality of the renal collecting system (HP:0004742)1.72483173
100Hypothermia (HP:0002045)1.72390938

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK34.25099525
2MST43.83193000
3EIF2AK13.71448316
4TSSK63.28285866
5VRK23.07630643
6ZAK2.85024686
7NUAK12.69259616
8BUB12.64769930
9BMPR1B2.59950689
10SRPK12.43628380
11VRK12.25590699
12PBK2.24309355
13TLK12.15529382
14TXK2.13427132
15PLK32.11045872
16MKNK22.10026364
17TNIK1.96090529
18STK161.83279250
19ADRBK21.77515728
20MKNK11.69401081
21NME11.68199406
22GRK11.68049696
23NEK11.65762506
24WNK31.58272503
25EIF2AK21.56496382
26FRK1.55043088
27TAOK31.52353144
28OXSR11.43815616
29TRIM281.34431717
30BCKDK1.27298907
31WNK41.21931801
32PLK41.20730309
33STK391.18653116
34CDC71.18562851
35ALK1.16435908
36TEC1.15612260
37ACVR1B1.13418756
38TTK0.98876058
39PHKG10.96940998
40PHKG20.96940998
41MAP4K20.95212422
42TAF10.91277887
43PLK20.90605458
44MAP2K60.90303413
45PLK10.88804264
46PINK10.83983427
47ITK0.82021491
48PASK0.80669864
49AKT30.79752994
50IKBKB0.79059959
51ERBB30.74232146
52TGFBR10.74186165
53INSRR0.72281653
54KIT0.68248732
55KDR0.67330741
56BMPR20.65761171
57CDK190.64570827
58ATR0.63311888
59MAP3K140.62724137
60DYRK20.58700501
61TIE10.58042464
62DAPK10.55183308
63STK38L0.54114799
64CSNK1G30.50554886
65CSNK1G10.49517355
66FES0.48623155
67FLT30.48330503
68AURKB0.47451786
69PRKCQ0.46959209
70WEE10.44883624
71CSNK2A20.43956413
72DAPK20.43551881
73RPS6KA50.43306678
74CDK80.40985764
75IKBKE0.40594152
76PIK3CA0.40338231
77PIK3CG0.40031088
78CSNK2A10.38617050
79CSNK1A1L0.37898882
80STK40.37850708
81PRKCE0.35009989
82CSNK1G20.34702572
83ATM0.34252038
84MAPKAPK50.33760615
85ADRBK10.33616064
86SYK0.32979552
87MAPK130.32400000
88LCK0.30985325
89MAP4K10.30257966
90MAP3K40.29975700
91BCR0.28367160
92FGFR10.26809122
93PRKCG0.26359652
94CDK70.25840402
95RPS6KA40.25165390
96BTK0.24889642
97IGF1R0.24525371
98NLK0.24190779
99JAK30.24005170
100STK30.23652040

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.38203734
2Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.86819417
3Protein export_Homo sapiens_hsa030602.82689804
4Asthma_Homo sapiens_hsa053102.78651289
5Allograft rejection_Homo sapiens_hsa053302.66727445
6RNA polymerase_Homo sapiens_hsa030202.49116294
7Autoimmune thyroid disease_Homo sapiens_hsa053202.30169936
8Oxidative phosphorylation_Homo sapiens_hsa001902.25714639
9Mismatch repair_Homo sapiens_hsa034302.25525051
10One carbon pool by folate_Homo sapiens_hsa006702.21607550
11Homologous recombination_Homo sapiens_hsa034402.18468205
12Propanoate metabolism_Homo sapiens_hsa006402.02094778
13Intestinal immune network for IgA production_Homo sapiens_hsa046721.99124814
14Parkinsons disease_Homo sapiens_hsa050121.98686306
15Vitamin B6 metabolism_Homo sapiens_hsa007501.97227088
16DNA replication_Homo sapiens_hsa030301.93000623
17RNA transport_Homo sapiens_hsa030131.84697132
18RNA degradation_Homo sapiens_hsa030181.73743952
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72595011
20Graft-versus-host disease_Homo sapiens_hsa053321.72232675
21Type I diabetes mellitus_Homo sapiens_hsa049401.71701510
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.70275219
23Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.66086905
24Basal transcription factors_Homo sapiens_hsa030221.62532995
25Ribosome_Homo sapiens_hsa030101.60911657
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60479819
27Nucleotide excision repair_Homo sapiens_hsa034201.54283248
28Spliceosome_Homo sapiens_hsa030401.46886891
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.45322322
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.41868395
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.41734818
32Primary immunodeficiency_Homo sapiens_hsa053401.41139560
33Base excision repair_Homo sapiens_hsa034101.39635599
34Phototransduction_Homo sapiens_hsa047441.38822630
35Pyrimidine metabolism_Homo sapiens_hsa002401.33788554
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.33108759
37Fanconi anemia pathway_Homo sapiens_hsa034601.24399918
38Non-homologous end-joining_Homo sapiens_hsa034501.22198701
39Huntingtons disease_Homo sapiens_hsa050161.17690051
40Purine metabolism_Homo sapiens_hsa002301.12456131
41Rheumatoid arthritis_Homo sapiens_hsa053231.09044472
42Linoleic acid metabolism_Homo sapiens_hsa005911.07469787
43Tryptophan metabolism_Homo sapiens_hsa003801.02872983
44Peroxisome_Homo sapiens_hsa041461.01303392
45Alzheimers disease_Homo sapiens_hsa050100.98462237
46Nitrogen metabolism_Homo sapiens_hsa009100.97590697
47Butanoate metabolism_Homo sapiens_hsa006500.95314058
48Selenocompound metabolism_Homo sapiens_hsa004500.92407810
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.92063941
50Hematopoietic cell lineage_Homo sapiens_hsa046400.88576638
51Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.86207942
52Antigen processing and presentation_Homo sapiens_hsa046120.85463544
53Pyruvate metabolism_Homo sapiens_hsa006200.81418157
54alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79667591
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79289741
56Caffeine metabolism_Homo sapiens_hsa002320.78175323
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.76484106
58Regulation of autophagy_Homo sapiens_hsa041400.69725766
59Sulfur metabolism_Homo sapiens_hsa009200.67544281
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.60902465
61Pentose and glucuronate interconversions_Homo sapiens_hsa000400.60879461
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.60769508
63Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.59557705
64Metabolic pathways_Homo sapiens_hsa011000.57670041
65Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57006494
66Maturity onset diabetes of the young_Homo sapiens_hsa049500.56737078
67Fatty acid degradation_Homo sapiens_hsa000710.53693091
68Jak-STAT signaling pathway_Homo sapiens_hsa046300.53669020
69Ether lipid metabolism_Homo sapiens_hsa005650.51606589
70Systemic lupus erythematosus_Homo sapiens_hsa053220.51539318
71Collecting duct acid secretion_Homo sapiens_hsa049660.51525644
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50016140
73Steroid biosynthesis_Homo sapiens_hsa001000.49575808
74Arachidonic acid metabolism_Homo sapiens_hsa005900.49531968
75Fatty acid elongation_Homo sapiens_hsa000620.49298585
76Glycerolipid metabolism_Homo sapiens_hsa005610.45970064
77Fat digestion and absorption_Homo sapiens_hsa049750.45730716
78Epstein-Barr virus infection_Homo sapiens_hsa051690.44439180
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.43060336
80Measles_Homo sapiens_hsa051620.41698277
81beta-Alanine metabolism_Homo sapiens_hsa004100.41521751
82mRNA surveillance pathway_Homo sapiens_hsa030150.41353087
83T cell receptor signaling pathway_Homo sapiens_hsa046600.40994263
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.40968665
85NF-kappa B signaling pathway_Homo sapiens_hsa040640.37272037
86Fatty acid metabolism_Homo sapiens_hsa012120.36671392
87Olfactory transduction_Homo sapiens_hsa047400.35991287
88Cardiac muscle contraction_Homo sapiens_hsa042600.35693825
89Retinol metabolism_Homo sapiens_hsa008300.33602481
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.32264332
91Vitamin digestion and absorption_Homo sapiens_hsa049770.32133713
92Carbon metabolism_Homo sapiens_hsa012000.31951799
93Primary bile acid biosynthesis_Homo sapiens_hsa001200.31825371
94Cell cycle_Homo sapiens_hsa041100.31818607
95Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.31586695
96Glutathione metabolism_Homo sapiens_hsa004800.31045219
97Chemical carcinogenesis_Homo sapiens_hsa052040.28263972
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.28141825
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28016404
100p53 signaling pathway_Homo sapiens_hsa041150.24827721

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