NPM1P51

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)5.02529598
2DNA deamination (GO:0045006)4.73842179
3regulation of isotype switching to IgG isotypes (GO:0048302)4.68677419
4regulation of chronic inflammatory response (GO:0002676)4.59472956
5regulation of immunoglobulin secretion (GO:0051023)4.52667558
6positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)4.41613971
7protein-cofactor linkage (GO:0018065)4.24585509
8regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.93296215
9negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.92784088
10positive regulation of prostaglandin secretion (GO:0032308)3.87350561
11exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.86627721
12positive regulation of DNA recombination (GO:0045911)3.81759578
13positive regulation of isotype switching (GO:0045830)3.81510578
14ribosomal small subunit assembly (GO:0000028)3.74475313
15RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.71584911
16nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.69098443
17transcription elongation from RNA polymerase III promoter (GO:0006385)3.65429051
18termination of RNA polymerase III transcription (GO:0006386)3.65429051
19positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.62531922
20chaperone-mediated protein transport (GO:0072321)3.60583250
21energy coupled proton transport, down electrochemical gradient (GO:0015985)3.58382222
22ATP synthesis coupled proton transport (GO:0015986)3.58382222
23regulation of cellular amino acid metabolic process (GO:0006521)3.58189617
24DNA catabolic process, exonucleolytic (GO:0000738)3.54809733
25regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.53004144
26negative regulation of ligase activity (GO:0051352)3.53001752
27negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.53001752
28establishment of protein localization to mitochondrial membrane (GO:0090151)3.50731483
29mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.47835462
30DNA double-strand break processing (GO:0000729)3.47506050
31signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.46621928
32signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.46621928
33signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.46621928
34DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.46481231
35regulation of regulatory T cell differentiation (GO:0045589)3.41396798
36folic acid-containing compound biosynthetic process (GO:0009396)3.40434475
37rRNA modification (GO:0000154)3.38788315
38signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.36316956
39intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.36316956
40regulation of mitotic spindle checkpoint (GO:1903504)3.34087810
41regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.34087810
42pseudouridine synthesis (GO:0001522)3.32841438
43signal transduction involved in DNA integrity checkpoint (GO:0072401)3.27662812
44signal transduction involved in DNA damage checkpoint (GO:0072422)3.27662812
45water-soluble vitamin biosynthetic process (GO:0042364)3.26278562
46anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.24893701
47somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.23419741
48isotype switching (GO:0045190)3.23419741
49somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.23419741
50signal transduction involved in cell cycle checkpoint (GO:0072395)3.21878333
51tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.21679935
52RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.21679935
53protein deneddylation (GO:0000338)3.20640633
54regulation of prostaglandin secretion (GO:0032306)3.18391060
55cullin deneddylation (GO:0010388)3.17605816
56ribosome biogenesis (GO:0042254)3.16855419
57ribosome assembly (GO:0042255)3.15065103
58mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.10766865
59positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.10007205
60rRNA processing (GO:0006364)3.09932740
61positive regulation of fatty acid transport (GO:2000193)3.08843924
62ribosomal large subunit biogenesis (GO:0042273)3.08387620
63protein complex biogenesis (GO:0070271)3.06747832
64rRNA metabolic process (GO:0016072)3.05916646
65DNA replication checkpoint (GO:0000076)3.04609020
66maturation of 5.8S rRNA (GO:0000460)3.02879319
67GTP biosynthetic process (GO:0006183)2.99497344
68protein neddylation (GO:0045116)2.98189854
69rRNA methylation (GO:0031167)2.96256908
70positive regulation of immunoglobulin mediated immune response (GO:0002891)2.95494260
71positive regulation of B cell mediated immunity (GO:0002714)2.95494260
72L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.95032709
73antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.93661063
74positive regulation of icosanoid secretion (GO:0032305)2.93250587
75positive regulation of ligase activity (GO:0051351)2.92928216
76regulation of nuclear cell cycle DNA replication (GO:0033262)2.90254344
77mitochondrial respiratory chain complex assembly (GO:0033108)2.89662419
78tRNA processing (GO:0008033)2.88786362
79regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.85869280
80mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.84149863
81mitochondrial respiratory chain complex I assembly (GO:0032981)2.84149863
82NADH dehydrogenase complex assembly (GO:0010257)2.84149863
83cellular component biogenesis (GO:0044085)2.80463556
84positive regulation of immunoglobulin production (GO:0002639)2.78528536
85tRNA metabolic process (GO:0006399)2.78429279
86ribonucleoprotein complex biogenesis (GO:0022613)2.76229225
87positive regulation of cell cycle arrest (GO:0071158)2.76199174
88maturation of SSU-rRNA (GO:0030490)2.76062331
89spliceosomal snRNP assembly (GO:0000387)2.74906672
90respiratory electron transport chain (GO:0022904)2.73970089
91electron transport chain (GO:0022900)2.73073315
92respiratory chain complex IV assembly (GO:0008535)2.71951743
93DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.69978337
94ncRNA metabolic process (GO:0034660)2.68747606
95chromatin remodeling at centromere (GO:0031055)2.68055871
96antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.67477483
97translation (GO:0006412)2.65630312
98transcription elongation from RNA polymerase I promoter (GO:0006362)2.65591535
99mannosylation (GO:0097502)2.65250446
100protein K6-linked ubiquitination (GO:0085020)2.65081104

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.09180106
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.56919804
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.34802558
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.57069772
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.41420285
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.29199950
7VDR_23849224_ChIP-Seq_CD4+_Human2.97122788
8ETS1_20019798_ChIP-Seq_JURKAT_Human2.92270425
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.91797790
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87515362
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.83736225
12NOTCH1_21737748_ChIP-Seq_TLL_Human2.73638876
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.67824814
14ELK1_19687146_ChIP-ChIP_HELA_Human2.62733872
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.53195800
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.43523078
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.41560606
18FOXP3_21729870_ChIP-Seq_TREG_Human2.26568481
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.21717416
20ZNF274_21170338_ChIP-Seq_K562_Hela2.21639014
21VDR_22108803_ChIP-Seq_LS180_Human2.15616286
22SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.94229854
23SRF_21415370_ChIP-Seq_HL-1_Mouse1.90413541
24MYC_18940864_ChIP-ChIP_HL60_Human1.84588511
25MYC_18358816_ChIP-ChIP_MESCs_Mouse1.81778205
26MYC_19030024_ChIP-ChIP_MESCs_Mouse1.77086467
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.76736728
28PCGF2_27294783_Chip-Seq_ESCs_Mouse1.75638906
29BP1_19119308_ChIP-ChIP_Hs578T_Human1.71130535
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.69327916
31IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.64641462
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.63924755
33IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.63350113
34DCP1A_22483619_ChIP-Seq_HELA_Human1.59838560
35HOXB4_20404135_ChIP-ChIP_EML_Mouse1.55767033
36EWS_26573619_Chip-Seq_HEK293_Human1.54869523
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.53007473
38CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.52003409
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50709580
40E2F7_22180533_ChIP-Seq_HELA_Human1.45542949
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.45342889
42GABP_19822575_ChIP-Seq_HepG2_Human1.44834641
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.44263332
44EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.43788790
45TTF2_22483619_ChIP-Seq_HELA_Human1.43762192
46PADI4_21655091_ChIP-ChIP_MCF-7_Human1.42520641
47PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40201936
48TP53_22573176_ChIP-Seq_HFKS_Human1.36931139
49EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.36216211
50FOXA1_27270436_Chip-Seq_PROSTATE_Human1.32705633
51FOXA1_25329375_ChIP-Seq_VCAP_Human1.32705633
52MYC_19079543_ChIP-ChIP_MESCs_Mouse1.30086652
53CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.29467821
54YY1_21170310_ChIP-Seq_MESCs_Mouse1.28745139
55GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27003636
56SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.26033645
57GATA3_26560356_Chip-Seq_TH2_Human1.25778495
58HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.25337457
59PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.24007274
60GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22966611
61FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.20177716
62IRF1_19129219_ChIP-ChIP_H3396_Human1.19128014
63SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19117501
64FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.16717150
65NFE2_27457419_Chip-Seq_LIVER_Mouse1.16234102
66CTBP1_25329375_ChIP-Seq_LNCAP_Human1.13556273
67STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.12594800
68XRN2_22483619_ChIP-Seq_HELA_Human1.11266345
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.09215670
70E2F1_18555785_ChIP-Seq_MESCs_Mouse1.08339972
71MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.05867712
72ER_23166858_ChIP-Seq_MCF-7_Human1.04646330
73AR_20517297_ChIP-Seq_VCAP_Human1.04145809
74FUS_26573619_Chip-Seq_HEK293_Human1.03842222
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.03407775
76YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.03103703
77MYB_26560356_Chip-Seq_TH2_Human1.01886304
78HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.01585394
79AUTS2_25519132_ChIP-Seq_293T-REX_Human1.00040828
80TAF15_26573619_Chip-Seq_HEK293_Human0.99531397
81ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.99440049
82TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.97367344
83MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.96584206
84NCOR_22424771_ChIP-Seq_293T_Human0.95861432
85HOXB7_26014856_ChIP-Seq_BT474_Human0.95427380
86CBP_20019798_ChIP-Seq_JUKART_Human0.95097667
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95097667
88EZH2_27294783_Chip-Seq_NPCs_Mouse0.94428676
89NELFA_20434984_ChIP-Seq_ESCs_Mouse0.93068786
90P300_19829295_ChIP-Seq_ESCs_Human0.92471322
91GATA3_21878914_ChIP-Seq_MCF-7_Human0.88572347
92STAT4_19710469_ChIP-ChIP_TH1__Mouse0.88504364
93SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.88321863
94TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.88014528
95POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87779193
96ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86229508
97POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.85656439
98HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.85067171
99FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84925087
100NANOG_19829295_ChIP-Seq_ESCs_Human0.84437954

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level3.95634170
2MP0000685_abnormal_immune_system3.55389033
3MP0001835_abnormal_antigen_presentation3.53063937
4MP0005671_abnormal_response_to3.17076123
5MP0002138_abnormal_hepatobiliary_system3.13590354
6MP0005360_urolithiasis2.84283517
7MP0003693_abnormal_embryo_hatching2.78918795
8MP0001873_stomach_inflammation2.35700134
9MP0008877_abnormal_DNA_methylation2.26917242
10MP0002102_abnormal_ear_morphology2.24711188
11MP0004957_abnormal_blastocyst_morpholog2.19291620
12MP0008875_abnormal_xenobiotic_pharmacok2.15258277
13MP0001790_abnormal_immune_system2.14083452
14MP0005387_immune_system_phenotype2.14083452
15MP0008058_abnormal_DNA_repair2.10657071
16MP0010094_abnormal_chromosome_stability2.09743830
17MP0002148_abnormal_hypersensitivity_rea2.08877884
18MP0003806_abnormal_nucleotide_metabolis2.08187197
19MP0008872_abnormal_physiological_respon2.02413785
20MP0003646_muscle_fatigue2.01468718
21MP0003786_premature_aging1.97401665
22MP0003718_maternal_effect1.89012182
23MP0004145_abnormal_muscle_electrophysio1.86271625
24MP0009333_abnormal_splenocyte_physiolog1.82278284
25MP0001853_heart_inflammation1.72658160
26MP0003195_calcinosis1.71807601
27MP0001348_abnormal_lacrimal_gland1.71795489
28MP0004782_abnormal_surfactant_physiolog1.59418053
29MP0001800_abnormal_humoral_immune1.57924546
30MP0008057_abnormal_DNA_replication1.54718889
31MP0002006_tumorigenesis1.51868181
32MP0004885_abnormal_endolymph1.47251744
33MP0003763_abnormal_thymus_physiology1.45601315
34MP0002166_altered_tumor_susceptibility1.41532511
35MP0006292_abnormal_olfactory_placode1.41243938
36MP0005000_abnormal_immune_tolerance1.38811994
37MP0009785_altered_susceptibility_to1.38668051
38MP0005646_abnormal_pituitary_gland1.36422383
39MP0006072_abnormal_retinal_apoptosis1.25114122
40MP0002277_abnormal_respiratory_mucosa1.24279059
41MP0001501_abnormal_sleep_pattern1.23117459
42MP0006036_abnormal_mitochondrial_physio1.20435265
43MP0005084_abnormal_gallbladder_morpholo1.20083210
44MP0003111_abnormal_nucleus_morphology1.19831116
45MP0003077_abnormal_cell_cycle1.19395337
46MP0003880_abnormal_central_pattern1.18896461
47MP0002736_abnormal_nociception_after1.18341581
48MP0001968_abnormal_touch/_nociception1.18236289
49MP0002723_abnormal_immune_serum1.16034763
50MP0003436_decreased_susceptibility_to1.14433112
51MP0002405_respiratory_system_inflammati1.14304503
52MP0005645_abnormal_hypothalamus_physiol1.11717692
53MP0002420_abnormal_adaptive_immunity1.10642642
54MP0002398_abnormal_bone_marrow1.10235312
55MP0000689_abnormal_spleen_morphology1.09791255
56MP0001819_abnormal_immune_cell1.08490627
57MP0005083_abnormal_biliary_tract1.08168344
58MP0003567_abnormal_fetal_cardiomyocyte1.05747958
59MP0005389_reproductive_system_phenotype1.05379866
60MP0003186_abnormal_redox_activity1.05040907
61MP0003878_abnormal_ear_physiology1.04509955
62MP0005377_hearing/vestibular/ear_phenot1.04509955
63MP0002160_abnormal_reproductive_system1.04223285
64MP0008007_abnormal_cellular_replicative1.01141987
65MP0004142_abnormal_muscle_tone1.00742076
66MP0006035_abnormal_mitochondrial_morpho1.00079125
67MP0002876_abnormal_thyroid_physiology0.99971550
68MP0003936_abnormal_reproductive_system0.98685804
69MP0005551_abnormal_eye_electrophysiolog0.98047391
70MP0001881_abnormal_mammary_gland0.97634321
71MP0002722_abnormal_immune_system0.97494608
72MP0000716_abnormal_immune_system0.97084563
73MP0003866_abnormal_defecation0.96975148
74MP0000703_abnormal_thymus_morphology0.96396745
75MP0005636_abnormal_mineral_homeostasis0.94660863
76MP0000383_abnormal_hair_follicle0.94283487
77MP0001919_abnormal_reproductive_system0.94162584
78MP0002452_abnormal_antigen_presenting0.92804267
79MP0008932_abnormal_embryonic_tissue0.92305051
80MP0001293_anophthalmia0.92087584
81MP0002653_abnormal_ependyma_morphology0.89616453
82MP0002210_abnormal_sex_determination0.89269869
83MP0002429_abnormal_blood_cell0.88444715
84MP0005410_abnormal_fertilization0.88319475
85MP0001661_extended_life_span0.86932751
86MP0005085_abnormal_gallbladder_physiolo0.83156005
87MP0005025_abnormal_response_to0.81898430
88MP0009764_decreased_sensitivity_to0.78020931
89MP0005379_endocrine/exocrine_gland_phen0.76860609
90MP0001929_abnormal_gametogenesis0.76735911
91MP0002163_abnormal_gland_morphology0.75326176
92MP0001119_abnormal_female_reproductive0.73321828
93MP0001845_abnormal_inflammatory_respons0.73254698
94MP0001984_abnormal_olfaction0.73097388
95MP0002938_white_spotting0.72638539
96MP0005075_abnormal_melanosome_morpholog0.71920394
97MP0009840_abnormal_foam_cell0.71499901
98MP0003011_delayed_dark_adaptation0.70136698
99MP0003724_increased_susceptibility_to0.68855004
100MP0004215_abnormal_myocardial_fiber0.67989704

Predicted human phenotypes

RankGene SetZ-score
1Increased hepatocellular lipid droplets (HP:0006565)4.60514836
2Stomatitis (HP:0010280)4.38243290
3Lipid accumulation in hepatocytes (HP:0006561)4.31266304
4Increased CSF lactate (HP:0002490)3.96372916
5Acute necrotizing encephalopathy (HP:0006965)3.81072637
6Mitochondrial inheritance (HP:0001427)3.77223747
7IgG deficiency (HP:0004315)3.45462366
8Acute encephalopathy (HP:0006846)3.31569428
9Cerebellar dysplasia (HP:0007033)3.25630489
10Hepatic necrosis (HP:0002605)3.24875461
11Increased serum lactate (HP:0002151)3.22527087
12Renal Fanconi syndrome (HP:0001994)3.20246204
13Hepatocellular necrosis (HP:0001404)3.19532512
14Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.18653213
15Abnormal mitochondria in muscle tissue (HP:0008316)3.15451974
16Exertional dyspnea (HP:0002875)3.12489979
17Progressive macrocephaly (HP:0004481)3.06382175
18Type II lissencephaly (HP:0007260)3.03064247
19Increased intramyocellular lipid droplets (HP:0012240)2.93109810
20Cerebral edema (HP:0002181)2.79044546
21Nephronophthisis (HP:0000090)2.74646066
22Pancreatic cysts (HP:0001737)2.74419769
23Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.65093695
24Methylmalonic acidemia (HP:0002912)2.58812927
25Renal cortical cysts (HP:0000803)2.57247537
26Abnormality of the renal cortex (HP:0011035)2.54955668
27Elevated erythrocyte sedimentation rate (HP:0003565)2.51745897
28Optic disc pallor (HP:0000543)2.51374326
29Congenital, generalized hypertrichosis (HP:0004540)2.50909966
30Absent rod-and cone-mediated responses on ERG (HP:0007688)2.50334442
31Increased muscle lipid content (HP:0009058)2.46030620
323-Methylglutaconic aciduria (HP:0003535)2.44091700
33Lactic acidosis (HP:0003128)2.42919010
34Methylmalonic aciduria (HP:0012120)2.41496550
35Lethargy (HP:0001254)2.39958513
36Decreased electroretinogram (ERG) amplitude (HP:0000654)2.39861147
37Aplastic anemia (HP:0001915)2.39575983
38Abnormality of the labia minora (HP:0012880)2.38865153
39Abnormality of the pons (HP:0007361)2.38288029
40Abnormality of urine glucose concentration (HP:0011016)2.36467683
41Glycosuria (HP:0003076)2.36467683
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.35856983
43Abnormality of alanine metabolism (HP:0010916)2.35856983
44Hyperalaninemia (HP:0003348)2.35856983
45Abnormality of the renal medulla (HP:0100957)2.33747422
46Constricted visual fields (HP:0001133)2.31378005
47Aplasia/Hypoplasia of the spleen (HP:0010451)2.30284440
48Respiratory difficulties (HP:0002880)2.28923255
49Abolished electroretinogram (ERG) (HP:0000550)2.27265450
50Abnormality of T cells (HP:0002843)2.24277220
51T lymphocytopenia (HP:0005403)2.23728667
52Severe combined immunodeficiency (HP:0004430)2.21582553
53Hypoproteinemia (HP:0003075)2.21379980
54Pancreatic fibrosis (HP:0100732)2.20558936
55Abnormal number of erythroid precursors (HP:0012131)2.19581356
56Abnormality of T cell number (HP:0011839)2.19201049
57Abnormality of the vocal cords (HP:0008777)2.17355917
58Hypoplasia of the pons (HP:0012110)2.16925358
59Colon cancer (HP:0003003)2.16856670
60Abnormality of midbrain morphology (HP:0002418)2.15975909
61Molar tooth sign on MRI (HP:0002419)2.15975909
62Respiratory failure (HP:0002878)2.15892969
63Increased IgM level (HP:0003496)2.13338727
64Congenital stationary night blindness (HP:0007642)2.12206437
65Abnormality of aspartate family amino acid metabolism (HP:0010899)2.11558710
66Pancytopenia (HP:0001876)2.09826597
67Asplenia (HP:0001746)2.07152357
68True hermaphroditism (HP:0010459)2.05763315
69Abnormality of cells of the erythroid lineage (HP:0012130)2.04669140
70Meckel diverticulum (HP:0002245)2.03618426
71Generalized aminoaciduria (HP:0002909)2.02859977
72Leukodystrophy (HP:0002415)2.02179276
73Pendular nystagmus (HP:0012043)2.01855973
74Tongue fasciculations (HP:0001308)2.01812362
75Progressive inability to walk (HP:0002505)2.01196699
76Abnormal rod and cone electroretinograms (HP:0008323)1.98710932
77Reticulocytopenia (HP:0001896)1.98498049
78Abnormality of T cell physiology (HP:0011840)1.98233720
79Decreased circulating renin level (HP:0003351)1.97481951
80Abnormality of the ileum (HP:0001549)1.96169625
81Exercise intolerance (HP:0003546)1.88297405
82Severe muscular hypotonia (HP:0006829)1.88215363
83Abnormality of serum amino acid levels (HP:0003112)1.87645474
84Abnormality of the renal collecting system (HP:0004742)1.87497344
85Absent thumb (HP:0009777)1.86041360
86Horseshoe kidney (HP:0000085)1.83593979
87Type I transferrin isoform profile (HP:0003642)1.81797874
88Clubbing of toes (HP:0100760)1.78608169
89Cerebral hypomyelination (HP:0006808)1.78234799
90Aplasia/hypoplasia of the uterus (HP:0008684)1.78074275
91Aplasia/Hypoplasia of the uvula (HP:0010293)1.77974783
92Abnormality of renal resorption (HP:0011038)1.76582035
93Duplicated collecting system (HP:0000081)1.75814109
94Neutropenia (HP:0001875)1.75529624
95Palpitations (HP:0001962)1.74497849
96Thyroiditis (HP:0100646)1.73296801
97Attenuation of retinal blood vessels (HP:0007843)1.72872369
98Combined immunodeficiency (HP:0005387)1.72773952
99Decreased central vision (HP:0007663)1.72484459
100Macrocytic anemia (HP:0001972)1.71802313

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.70111382
2PBK3.65145484
3VRK23.63433926
4TSSK63.57825490
5TXK3.16968972
6BMPR1B3.14177442
7MST42.81675751
8BUB12.70278665
9TLK12.70207321
10BCKDK2.64364192
11TAOK32.50009159
12CDK82.49431486
13EIF2AK32.34338364
14NUAK12.28895640
15WNK42.05151630
16VRK11.99419989
17EIF2AK11.94699010
18TGFBR11.92083378
19SRPK11.91078220
20NME11.90170131
21PLK31.82538383
22MKNK21.78082515
23GRK11.68185979
24MAP2K61.63872094
25TAF11.48877331
26ADRBK21.41250267
27MKNK11.38270995
28MAPKAPK31.37394731
29WNK31.22617656
30EIF2AK21.20161623
31FRK1.17247652
32STK391.13810089
33TRIM281.13576482
34PLK41.11850222
35CDC71.07945846
36ALK0.99963578
37OXSR10.99490179
38TNK20.98819521
39PDK20.98815988
40TEC0.96159403
41MUSK0.95465835
42PLK20.93340514
43MAP4K20.91714334
44ITK0.91486803
45IKBKB0.86872522
46STK160.86208578
47TESK20.84802855
48TTK0.82215679
49MAP2K20.81715266
50IKBKE0.79106610
51DAPK10.78864015
52KDR0.78779914
53MAP4K10.77116006
54TIE10.69446619
55PLK10.69088276
56MAP3K140.66240269
57PASK0.65868449
58NEK10.65815327
59KIT0.63214497
60RPS6KA40.62155884
61ACVR1B0.61435296
62MAP3K120.54694809
63TNIK0.54505243
64GRK50.53361955
65ATR0.53064835
66CDK90.51725248
67PIK3CG0.49621826
68WEE10.49278310
69RPS6KA50.48953318
70LCK0.44533072
71STK38L0.44505201
72INSRR0.44390208
73PRKCQ0.42909767
74BMPR20.42143655
75MAPKAPK50.39130801
76CSNK2A20.37942358
77CSNK1G30.37487277
78MAP2K70.37280048
79MAP3K130.37271833
80SYK0.35546305
81FLT30.35308318
82BTK0.34762262
83TESK10.34571254
84CSNK2A10.31431019
85JAK30.31383533
86ADRBK10.28736080
87CSNK1G10.28070738
88GRK70.27711403
89AURKB0.26997385
90PRKCG0.25236272
91IGF1R0.24570077
92STK40.23507759
93CSNK1E0.21965817
94PHKG20.21117294
95PHKG10.21117294
96FGFR10.20467604
97ATM0.20301594
98PAK30.19375869
99PRKCI0.18901173
100CSNK1A10.18258969

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.92849508
2RNA polymerase_Homo sapiens_hsa030203.05226743
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.93258282
4Protein export_Homo sapiens_hsa030602.91943609
5One carbon pool by folate_Homo sapiens_hsa006702.79214318
6Ribosome_Homo sapiens_hsa030102.70957816
7Oxidative phosphorylation_Homo sapiens_hsa001902.63342022
8Parkinsons disease_Homo sapiens_hsa050122.27452814
9Allograft rejection_Homo sapiens_hsa053302.25969374
10RNA degradation_Homo sapiens_hsa030182.19694429
11Asthma_Homo sapiens_hsa053102.18983024
12Basal transcription factors_Homo sapiens_hsa030222.11937031
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.09180029
14Autoimmune thyroid disease_Homo sapiens_hsa053202.05468645
15Mismatch repair_Homo sapiens_hsa034301.98442881
16Primary immunodeficiency_Homo sapiens_hsa053401.97344669
17Homologous recombination_Homo sapiens_hsa034401.91438818
18DNA replication_Homo sapiens_hsa030301.81162605
19RNA transport_Homo sapiens_hsa030131.78628828
20Propanoate metabolism_Homo sapiens_hsa006401.75687099
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.71020257
22Fanconi anemia pathway_Homo sapiens_hsa034601.59550585
23Type I diabetes mellitus_Homo sapiens_hsa049401.57166737
24Graft-versus-host disease_Homo sapiens_hsa053321.53290791
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.48384396
26Pyrimidine metabolism_Homo sapiens_hsa002401.48214019
27Caffeine metabolism_Homo sapiens_hsa002321.46567053
28Huntingtons disease_Homo sapiens_hsa050161.45367799
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.44795525
30Nucleotide excision repair_Homo sapiens_hsa034201.36559834
31Phototransduction_Homo sapiens_hsa047441.36099054
32Spliceosome_Homo sapiens_hsa030401.33231700
33Tryptophan metabolism_Homo sapiens_hsa003801.30193689
34Purine metabolism_Homo sapiens_hsa002301.25364770
35Alzheimers disease_Homo sapiens_hsa050101.23951070
36Nitrogen metabolism_Homo sapiens_hsa009101.23136072
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21918870
38Fatty acid elongation_Homo sapiens_hsa000621.21209997
39Base excision repair_Homo sapiens_hsa034101.19228147
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18856295
41Vitamin B6 metabolism_Homo sapiens_hsa007501.17724829
42Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.15598399
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.13895640
44Hematopoietic cell lineage_Homo sapiens_hsa046401.09830612
45Non-homologous end-joining_Homo sapiens_hsa034501.08820471
46Linoleic acid metabolism_Homo sapiens_hsa005911.04771615
47Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.04627544
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.03450605
49Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.98719432
50Peroxisome_Homo sapiens_hsa041460.96085674
51Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94524832
52Antigen processing and presentation_Homo sapiens_hsa046120.94014267
53Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.93250150
54T cell receptor signaling pathway_Homo sapiens_hsa046600.87489580
55Rheumatoid arthritis_Homo sapiens_hsa053230.87160803
56Sulfur metabolism_Homo sapiens_hsa009200.84409363
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.82011953
58NF-kappa B signaling pathway_Homo sapiens_hsa040640.80237315
59Butanoate metabolism_Homo sapiens_hsa006500.76680751
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72285711
61Selenocompound metabolism_Homo sapiens_hsa004500.71513322
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69341593
63Cardiac muscle contraction_Homo sapiens_hsa042600.68174645
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.66849945
65Cyanoamino acid metabolism_Homo sapiens_hsa004600.65237978
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.56873390
67Retinol metabolism_Homo sapiens_hsa008300.54700624
68Metabolic pathways_Homo sapiens_hsa011000.54255965
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.53293373
70Epstein-Barr virus infection_Homo sapiens_hsa051690.52414851
71mRNA surveillance pathway_Homo sapiens_hsa030150.50587053
72Jak-STAT signaling pathway_Homo sapiens_hsa046300.50288553
73Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.45296871
74Collecting duct acid secretion_Homo sapiens_hsa049660.44925045
75Vitamin digestion and absorption_Homo sapiens_hsa049770.43441451
76Systemic lupus erythematosus_Homo sapiens_hsa053220.41793322
77Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38702751
78NOD-like receptor signaling pathway_Homo sapiens_hsa046210.37735591
79Measles_Homo sapiens_hsa051620.37500776
80Steroid hormone biosynthesis_Homo sapiens_hsa001400.36009233
81ABC transporters_Homo sapiens_hsa020100.35294810
82Arachidonic acid metabolism_Homo sapiens_hsa005900.34782457
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.33284078
84Olfactory transduction_Homo sapiens_hsa047400.32969182
85Mineral absorption_Homo sapiens_hsa049780.32230645
86Folate biosynthesis_Homo sapiens_hsa007900.30464919
87Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.27735817
88Chemical carcinogenesis_Homo sapiens_hsa052040.27652985
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.27289755
90Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26866323
91Steroid biosynthesis_Homo sapiens_hsa001000.24705617
92Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.24337271
93Ether lipid metabolism_Homo sapiens_hsa005650.24308321
94Maturity onset diabetes of the young_Homo sapiens_hsa049500.22885750
95Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22357327
96p53 signaling pathway_Homo sapiens_hsa041150.20856208
97Pyruvate metabolism_Homo sapiens_hsa006200.20565642
98Taste transduction_Homo sapiens_hsa047420.18985671
99N-Glycan biosynthesis_Homo sapiens_hsa005100.18453828
100Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17804846

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