NPM1P50

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)5.57357452
2establishment of protein localization to mitochondrial membrane (GO:0090151)5.32777461
3DNA deamination (GO:0045006)4.86413749
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.70388436
5ATP synthesis coupled proton transport (GO:0015986)4.49756532
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.49756532
7protein K6-linked ubiquitination (GO:0085020)4.29514960
8chaperone-mediated protein transport (GO:0072321)4.18028207
9negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.07103407
10protein neddylation (GO:0045116)3.99856253
11nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.98893636
12exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.97533385
13positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.83773498
14regulation of cellular amino acid metabolic process (GO:0006521)3.81137095
15rRNA modification (GO:0000154)3.78394091
16regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.77418277
17RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.76009766
18protein complex biogenesis (GO:0070271)3.73966490
19CENP-A containing nucleosome assembly (GO:0034080)3.72958892
20DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.72951775
21signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.72181235
22signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.72181235
23signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.72181235
24ribosome assembly (GO:0042255)3.70960671
25pseudouridine synthesis (GO:0001522)3.69927501
26mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.68697234
27chromatin remodeling at centromere (GO:0031055)3.67957806
28negative regulation of ligase activity (GO:0051352)3.67718482
29negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.67718482
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.65565747
31mitochondrial respiratory chain complex I assembly (GO:0032981)3.65565747
32NADH dehydrogenase complex assembly (GO:0010257)3.65565747
33intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.63884760
34signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.63884760
35mitochondrial respiratory chain complex assembly (GO:0033108)3.62636285
36DNA catabolic process, exonucleolytic (GO:0000738)3.62163991
37anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.56424242
38signal transduction involved in DNA damage checkpoint (GO:0072422)3.53381088
39signal transduction involved in DNA integrity checkpoint (GO:0072401)3.53381088
40respiratory chain complex IV assembly (GO:0008535)3.48519195
41signal transduction involved in cell cycle checkpoint (GO:0072395)3.48021306
42DNA double-strand break processing (GO:0000729)3.47968375
43water-soluble vitamin biosynthetic process (GO:0042364)3.39339800
44cullin deneddylation (GO:0010388)3.39297283
45DNA replication checkpoint (GO:0000076)3.38934395
46somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.37772973
47isotype switching (GO:0045190)3.37772973
48somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.37772973
49RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.37713684
50tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.37713684
51positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.35427488
52positive regulation of ligase activity (GO:0051351)3.23805510
53protein deneddylation (GO:0000338)3.23751174
54histone exchange (GO:0043486)3.21234463
55termination of RNA polymerase III transcription (GO:0006386)3.19906489
56transcription elongation from RNA polymerase III promoter (GO:0006385)3.19906489
57respiratory electron transport chain (GO:0022904)3.19251842
58rRNA methylation (GO:0031167)3.18827447
59electron transport chain (GO:0022900)3.16638870
60preassembly of GPI anchor in ER membrane (GO:0016254)3.11522961
61maturation of 5.8S rRNA (GO:0000460)3.10562073
62cytochrome complex assembly (GO:0017004)3.10085518
63positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.06389217
64regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.06286140
65protein-cofactor linkage (GO:0018065)2.97564204
66synapsis (GO:0007129)2.95277573
67positive regulation of protein homodimerization activity (GO:0090073)2.92541226
68regulation of mitotic spindle checkpoint (GO:1903504)2.91625968
69regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.91625968
70regulation of isotype switching to IgG isotypes (GO:0048302)2.91518532
71DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.89948361
72rRNA processing (GO:0006364)2.88923787
73regulation of ubiquitin-protein transferase activity (GO:0051438)2.88816452
74negative regulation of DNA-dependent DNA replication (GO:2000104)2.87506681
75kinetochore assembly (GO:0051382)2.85555620
76rRNA metabolic process (GO:0016072)2.84197549
77purine nucleobase biosynthetic process (GO:0009113)2.81926271
78replication fork processing (GO:0031297)2.81163801
79regulation of ligase activity (GO:0051340)2.81110425
80antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.80767728
81regulation of immunoglobulin secretion (GO:0051023)2.79385701
82somatic hypermutation of immunoglobulin genes (GO:0016446)2.79236306
83somatic diversification of immune receptors via somatic mutation (GO:0002566)2.79236306
84IMP biosynthetic process (GO:0006188)2.77858223
85tRNA processing (GO:0008033)2.75235780
86regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.74285626
87positive regulation of cell cycle arrest (GO:0071158)2.72203711
88ribosomal large subunit biogenesis (GO:0042273)2.71918978
89aldehyde catabolic process (GO:0046185)2.71853349
90purine nucleoside triphosphate biosynthetic process (GO:0009145)2.71714775
91somatic diversification of immunoglobulins (GO:0016445)2.71209083
92tRNA metabolic process (GO:0006399)2.70927420
93regulation of cellular amine metabolic process (GO:0033238)2.70622790
94transcription elongation from RNA polymerase I promoter (GO:0006362)2.69040203
95ATP biosynthetic process (GO:0006754)2.68845194
96double-strand break repair via homologous recombination (GO:0000724)2.67529480
97histone mRNA metabolic process (GO:0008334)2.67488194
98recombinational repair (GO:0000725)2.67171862
99nucleobase biosynthetic process (GO:0046112)2.66824799
100cytidine catabolic process (GO:0006216)2.66269217

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.82889510
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.27058766
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.05483259
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.82832779
5E2F7_22180533_ChIP-Seq_HELA_Human3.22625816
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.05603486
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.97017934
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.82991742
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.76939518
10ELK1_19687146_ChIP-ChIP_HELA_Human2.67043254
11VDR_23849224_ChIP-Seq_CD4+_Human2.65006879
12ELF1_17652178_ChIP-ChIP_JURKAT_Human2.61270170
13VDR_22108803_ChIP-Seq_LS180_Human2.54745126
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.52808970
15FLI1_27457419_Chip-Seq_LIVER_Mouse2.49131036
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.44181737
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.32133654
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.31387200
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.16856697
20FOXP3_21729870_ChIP-Seq_TREG_Human2.13521579
21ZNF274_21170338_ChIP-Seq_K562_Hela2.08630278
22EWS_26573619_Chip-Seq_HEK293_Human2.01091639
23PCGF2_27294783_Chip-Seq_ESCs_Mouse1.95679313
24SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.93343802
25TAF15_26573619_Chip-Seq_HEK293_Human1.90367603
26SRF_21415370_ChIP-Seq_HL-1_Mouse1.89545901
27PADI4_21655091_ChIP-ChIP_MCF-7_Human1.85795369
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74690191
29FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.72160406
30NOTCH1_21737748_ChIP-Seq_TLL_Human1.70863361
31FUS_26573619_Chip-Seq_HEK293_Human1.67225301
32MYC_18940864_ChIP-ChIP_HL60_Human1.65176195
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.63468592
34PCGF2_27294783_Chip-Seq_NPCs_Mouse1.61052911
35MYC_19030024_ChIP-ChIP_MESCs_Mouse1.55413098
36DCP1A_22483619_ChIP-Seq_HELA_Human1.55000130
37POU3F2_20337985_ChIP-ChIP_501MEL_Human1.52736473
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.50331650
39MYC_18358816_ChIP-ChIP_MESCs_Mouse1.49881562
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.48178958
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.45978554
42TTF2_22483619_ChIP-Seq_HELA_Human1.42616784
43SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42198016
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.39791985
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.38297370
46NFE2_27457419_Chip-Seq_LIVER_Mouse1.33100628
47IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.31927876
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.31202111
49E2F1_18555785_ChIP-Seq_MESCs_Mouse1.29169866
50GABP_19822575_ChIP-Seq_HepG2_Human1.28787211
51P300_19829295_ChIP-Seq_ESCs_Human1.25196946
52FOXA1_27270436_Chip-Seq_PROSTATE_Human1.24386661
53FOXA1_25329375_ChIP-Seq_VCAP_Human1.24386661
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.20963797
55EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.20530403
56TP53_22573176_ChIP-Seq_HFKS_Human1.20520838
57NANOG_19829295_ChIP-Seq_ESCs_Human1.20167099
58SOX2_19829295_ChIP-Seq_ESCs_Human1.20167099
59YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20014189
60GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20010318
61EZH2_27294783_Chip-Seq_NPCs_Mouse1.16781383
62GATA3_26560356_Chip-Seq_TH2_Human1.16732319
63IGF1R_20145208_ChIP-Seq_DFB_Human1.15216522
64KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.14722896
65HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13728962
66SALL1_21062744_ChIP-ChIP_HESCs_Human1.13513317
67GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12815281
68YY1_21170310_ChIP-Seq_MESCs_Mouse1.11374764
69MYC_19079543_ChIP-ChIP_MESCs_Mouse1.10913169
70SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.09429019
71ER_23166858_ChIP-Seq_MCF-7_Human1.09273808
72MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07669115
73AR_20517297_ChIP-Seq_VCAP_Human1.07140105
74GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.04594149
75POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.02535036
76MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00774988
77IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00318745
78CBP_20019798_ChIP-Seq_JUKART_Human1.00318745
79ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.99645348
80ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.98543885
81E2F1_21310950_ChIP-Seq_MCF-7_Human0.97709760
82NCOR_22424771_ChIP-Seq_293T_Human0.96709400
83CTBP2_25329375_ChIP-Seq_LNCAP_Human0.95325872
84NELFA_20434984_ChIP-Seq_ESCs_Mouse0.94163678
85HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.93143249
86CRX_20693478_ChIP-Seq_RETINA_Mouse0.92201344
87ELK1_22589737_ChIP-Seq_MCF10A_Human0.92024685
88EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.91591787
89GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.91406880
90P300_18555785_Chip-Seq_ESCs_Mouse0.90910645
91RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.90459931
92IRF8_22096565_ChIP-ChIP_GC-B_Human0.89782839
93FOXA1_21572438_ChIP-Seq_LNCaP_Human0.89065359
94EGR1_23403033_ChIP-Seq_LIVER_Mouse0.89048163
95FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.88554462
96HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.88270979
97RBPJ_21746931_ChIP-Seq_IB4_Human0.87081458
98STAT3_18555785_Chip-Seq_ESCs_Mouse0.86614311
99POU5F1_16153702_ChIP-ChIP_HESCs_Human0.86089926
100KLF5_20875108_ChIP-Seq_MESCs_Mouse0.85774529

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.87783658
2MP0003806_abnormal_nucleotide_metabolis3.32004033
3MP0003693_abnormal_embryo_hatching3.16871725
4MP0010094_abnormal_chromosome_stability3.11613322
5MP0001835_abnormal_antigen_presentation3.09082235
6MP0008058_abnormal_DNA_repair2.99561007
7MP0004147_increased_porphyrin_level2.72140259
8MP0003195_calcinosis2.69670468
9MP0004957_abnormal_blastocyst_morpholog2.55683665
10MP0004145_abnormal_muscle_electrophysio2.50055484
11MP0006072_abnormal_retinal_apoptosis2.42179260
12MP0003718_maternal_effect2.39073775
13MP0006036_abnormal_mitochondrial_physio2.34067979
14MP0002138_abnormal_hepatobiliary_system2.32176179
15MP0008872_abnormal_physiological_respon2.31821756
16MP0002102_abnormal_ear_morphology2.29424599
17MP0003786_premature_aging2.26755325
18MP0008057_abnormal_DNA_replication2.14192507
19MP0006035_abnormal_mitochondrial_morpho2.06685281
20MP0006292_abnormal_olfactory_placode2.06682893
21MP0005671_abnormal_response_to2.03271599
22MP0005084_abnormal_gallbladder_morpholo2.00951898
23MP0005646_abnormal_pituitary_gland1.92617400
24MP0009697_abnormal_copulation1.86267367
25MP0005645_abnormal_hypothalamus_physiol1.79101659
26MP0000372_irregular_coat_pigmentation1.72119992
27MP0003111_abnormal_nucleus_morphology1.66849353
28MP0004215_abnormal_myocardial_fiber1.62585651
29MP0003646_muscle_fatigue1.59947920
30MP0001968_abnormal_touch/_nociception1.59888348
31MP0008875_abnormal_xenobiotic_pharmacok1.57180484
32MP0001873_stomach_inflammation1.56245781
33MP0003077_abnormal_cell_cycle1.48656814
34MP0002736_abnormal_nociception_after1.46113985
35MP0005551_abnormal_eye_electrophysiolog1.45469911
36MP0008007_abnormal_cellular_replicative1.44793340
37MP0003186_abnormal_redox_activity1.41740979
38MP0002006_tumorigenesis1.37926716
39MP0005253_abnormal_eye_physiology1.36181574
40MP0002837_dystrophic_cardiac_calcinosis1.34343286
41MP0008775_abnormal_heart_ventricle1.24492077
42MP0008995_early_reproductive_senescence1.24353741
43MP0001986_abnormal_taste_sensitivity1.22671753
44MP0002166_altered_tumor_susceptibility1.21981575
45MP0009785_altered_susceptibility_to1.20261309
46MP0002148_abnormal_hypersensitivity_rea1.19876841
47MP0001764_abnormal_homeostasis1.16747439
48MP0000685_abnormal_immune_system1.16730676
49MP0002160_abnormal_reproductive_system1.16117983
50MP0001800_abnormal_humoral_immune1.14490799
51MP0009333_abnormal_splenocyte_physiolog1.14136348
52MP0005075_abnormal_melanosome_morpholog1.12115775
53MP0004782_abnormal_surfactant_physiolog1.09886173
54MP0005389_reproductive_system_phenotype1.09374723
55MP0001293_anophthalmia1.05880935
56MP0002938_white_spotting1.02266127
57MP0001853_heart_inflammation1.02178556
58MP0003950_abnormal_plasma_membrane0.99311421
59MP0002277_abnormal_respiratory_mucosa0.98764765
60MP0005377_hearing/vestibular/ear_phenot0.97652760
61MP0003878_abnormal_ear_physiology0.97652760
62MP0001929_abnormal_gametogenesis0.96969014
63MP0002751_abnormal_autonomic_nervous0.92630056
64MP0002210_abnormal_sex_determination0.92007216
65MP0002272_abnormal_nervous_system0.91701317
66MP0009764_decreased_sensitivity_to0.90326405
67MP0001119_abnormal_female_reproductive0.87044077
68MP0002876_abnormal_thyroid_physiology0.86036385
69MP0001485_abnormal_pinna_reflex0.85967306
70MP0006054_spinal_hemorrhage0.84325719
71MP0005000_abnormal_immune_tolerance0.84220261
72MP0005410_abnormal_fertilization0.83705472
73MP0000653_abnormal_sex_gland0.82329430
74MP0004885_abnormal_endolymph0.80470350
75MP0000358_abnormal_cell_content/0.80025683
76MP0001905_abnormal_dopamine_level0.79643811
77MP0002234_abnormal_pharynx_morphology0.79056471
78MP0001919_abnormal_reproductive_system0.76390250
79MP0002452_abnormal_antigen_presenting0.76374035
80MP0004142_abnormal_muscle_tone0.75715936
81MP0005636_abnormal_mineral_homeostasis0.75582977
82MP0002019_abnormal_tumor_incidence0.75436119
83MP0005395_other_phenotype0.72885982
84MP0001790_abnormal_immune_system0.72751705
85MP0005387_immune_system_phenotype0.72751705
86MP0000689_abnormal_spleen_morphology0.72630221
87MP0002693_abnormal_pancreas_physiology0.72569225
88MP0008932_abnormal_embryonic_tissue0.72037511
89MP0005085_abnormal_gallbladder_physiolo0.70000256
90MP0002723_abnormal_immune_serum0.69936473
91MP0005266_abnormal_metabolism0.69843232
92MP0001145_abnormal_male_reproductive0.68570966
93MP0005332_abnormal_amino_acid0.67194823
94MP0009046_muscle_twitch0.66990467
95MP0001819_abnormal_immune_cell0.66967472
96MP0002420_abnormal_adaptive_immunity0.66962068
97MP0010307_abnormal_tumor_latency0.66082091
98MP0002398_abnormal_bone_marrow0.66028361
99MP0001984_abnormal_olfaction0.65119108
100MP0010386_abnormal_urinary_bladder0.64654575

Predicted human phenotypes

RankGene SetZ-score
1Increased CSF lactate (HP:0002490)4.00651846
2Increased hepatocellular lipid droplets (HP:0006565)3.96009557
3Mitochondrial inheritance (HP:0001427)3.93444710
4Lipid accumulation in hepatocytes (HP:0006561)3.92308665
5Acute necrotizing encephalopathy (HP:0006965)3.76722265
6Hepatocellular necrosis (HP:0001404)3.67359218
7Acute encephalopathy (HP:0006846)3.53438055
8Hepatic necrosis (HP:0002605)3.37712101
93-Methylglutaconic aciduria (HP:0003535)3.32255083
10Abnormal mitochondria in muscle tissue (HP:0008316)3.20589664
11Progressive macrocephaly (HP:0004481)3.15795045
12IgG deficiency (HP:0004315)3.10172253
13Increased serum lactate (HP:0002151)3.08455402
14Stomatitis (HP:0010280)3.03925653
15Pancreatic cysts (HP:0001737)2.90684599
16Cerebral edema (HP:0002181)2.87447896
17Exertional dyspnea (HP:0002875)2.86234410
18Abnormality of methionine metabolism (HP:0010901)2.85845549
19Abnormality of aspartate family amino acid metabolism (HP:0010899)2.80273267
20Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.75456688
21Renal Fanconi syndrome (HP:0001994)2.75371160
22Abnormality of the labia minora (HP:0012880)2.71447014
23Supernumerary spleens (HP:0009799)2.64374635
24Abnormality of B cell number (HP:0010975)2.56397308
25Methylmalonic acidemia (HP:0002912)2.55257670
26Lactic acidosis (HP:0003128)2.54402603
27Prostate neoplasm (HP:0100787)2.54044425
28Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.52262427
29Abnormality of alanine metabolism (HP:0010916)2.52262427
30Hyperalaninemia (HP:0003348)2.52262427
31Colon cancer (HP:0003003)2.52027546
32Aplasia/Hypoplasia of the uvula (HP:0010293)2.48096650
33Increased intramyocellular lipid droplets (HP:0012240)2.43922078
34Abolished electroretinogram (ERG) (HP:0000550)2.41644637
35Meckel diverticulum (HP:0002245)2.41092251
36Abnormality of the ileum (HP:0001549)2.40890170
37B lymphocytopenia (HP:0010976)2.40261086
38Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.40022172
39Aplastic anemia (HP:0001915)2.34967420
40Congenital, generalized hypertrichosis (HP:0004540)2.34656945
41Pancreatic fibrosis (HP:0100732)2.34299391
42Increased serum pyruvate (HP:0003542)2.32144517
43Abnormality of the prostate (HP:0008775)2.31853735
44Abnormality of chromosome stability (HP:0003220)2.26904113
45Congenital stationary night blindness (HP:0007642)2.25231360
46Respiratory failure (HP:0002878)2.24112686
47Nephronophthisis (HP:0000090)2.22919789
48Optic disc pallor (HP:0000543)2.21443771
49Lethargy (HP:0001254)2.20684863
50Chromosomal breakage induced by crosslinking agents (HP:0003221)2.20056575
51Respiratory difficulties (HP:0002880)2.19941570
52Methylmalonic aciduria (HP:0012120)2.18772118
53Hyperglycinuria (HP:0003108)2.18098118
54Clubbing of toes (HP:0100760)2.16301035
55True hermaphroditism (HP:0010459)2.15951431
56Abnormality of the pons (HP:0007361)2.13998075
57Increased muscle lipid content (HP:0009058)2.12676456
58Facial diplegia (HP:0001349)2.11152068
59Microvesicular hepatic steatosis (HP:0001414)2.08487191
60Abnormality of serum amino acid levels (HP:0003112)2.08391161
61Abnormality of the renal cortex (HP:0011035)2.08027456
62Molar tooth sign on MRI (HP:0002419)2.06961395
63Abnormality of midbrain morphology (HP:0002418)2.06961395
64Exercise intolerance (HP:0003546)2.06586445
65Severe combined immunodeficiency (HP:0004430)2.06539156
66Chromsome breakage (HP:0040012)2.06130959
67Chronic sinusitis (HP:0011109)2.05811002
68Pendular nystagmus (HP:0012043)2.05746850
69Abnormality of urine glucose concentration (HP:0011016)2.05651417
70Glycosuria (HP:0003076)2.05651417
71Abnormality of the preputium (HP:0100587)2.04992073
72CNS demyelination (HP:0007305)2.04793555
73Hypoproteinemia (HP:0003075)2.03563091
74Pancytopenia (HP:0001876)2.00578743
75Renal cortical cysts (HP:0000803)1.98932314
76Adrenal hypoplasia (HP:0000835)1.98376664
77Increased IgM level (HP:0003496)1.97892196
78Duplicated collecting system (HP:0000081)1.96162339
79Large for gestational age (HP:0001520)1.95487530
80Type I transferrin isoform profile (HP:0003642)1.93790695
81Decreased electroretinogram (ERG) amplitude (HP:0000654)1.93122748
82Hypothermia (HP:0002045)1.92907270
83Abnormality of the renal collecting system (HP:0004742)1.92100570
84Abnormality of glycolysis (HP:0004366)1.90578334
85Small intestinal stenosis (HP:0012848)1.89879290
86Duodenal stenosis (HP:0100867)1.89879290
87Panhypogammaglobulinemia (HP:0003139)1.84908257
88Constricted visual fields (HP:0001133)1.84711163
89Leukodystrophy (HP:0002415)1.82742366
90Abnormality of the renal medulla (HP:0100957)1.80668084
91Azoospermia (HP:0000027)1.80660487
92Abnormal spermatogenesis (HP:0008669)1.78181419
93Parakeratosis (HP:0001036)1.77978287
94Decreased central vision (HP:0007663)1.77359448
95Hyperglycinemia (HP:0002154)1.77168296
96Hypoplasia of the pons (HP:0012110)1.77087057
97Attenuation of retinal blood vessels (HP:0007843)1.76985135
98Abnormality of serine family amino acid metabolism (HP:0010894)1.76757999
99Abnormality of glycine metabolism (HP:0010895)1.76757999
100Sloping forehead (HP:0000340)1.76597876

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK33.51424397
2BUB13.16062992
3VRK22.98922276
4ZAK2.98066254
5TSSK62.89545217
6BMPR1B2.74591919
7MST42.65580250
8MKNK22.52601845
9NUAK12.37997988
10TLK12.35546078
11EIF2AK12.31292184
12MKNK12.26257931
13PBK2.22516035
14TAOK32.17245784
15PLK32.14336986
16NEK12.00829281
17GRK12.00019105
18TRIM281.96881854
19SRPK11.85416678
20ADRBK21.80782441
21VRK11.77813631
22TXK1.72398636
23WNK31.72055744
24MAP3K121.66559692
25TNIK1.54989385
26EIF2AK21.54730062
27FRK1.53141196
28ERBB31.41076758
29TTK1.37710459
30TAF11.29393433
31TEC1.24531872
32BCKDK1.22017535
33CDC71.21369413
34TGFBR11.20585828
35PLK41.17511291
36PASK1.15271032
37STK161.14778458
38OXSR11.14342529
39STK391.14157406
40NME11.10101010
41ACVR1B1.06927413
42BMPR21.05321003
43MAP4K21.03201629
44PLK11.01582399
45WEE11.01350011
46ALK0.94335709
47CDK80.92715885
48WNK40.89045953
49PLK20.87652421
50MAPKAPK50.87610082
51SCYL20.87342509
52DAPK10.84533169
53MAP3K40.79631787
54AURKB0.78631458
55ATR0.77667135
56CCNB10.74676653
57STK38L0.71453000
58NEK20.69719712
59TIE10.67463031
60PHKG10.65505473
61PHKG20.65505473
62IKBKB0.64847487
63ITK0.64141042
64BRSK20.61791064
65PDK20.60904017
66FLT30.58489684
67CHEK20.57896012
68MAP3K140.56582866
69AKT30.56320232
70CSNK1G10.55899693
71RPS6KA50.53230284
72NLK0.52814175
73CSNK1G30.51197066
74INSRR0.51075829
75MAP2K60.50628759
76KIT0.48546675
77ATM0.48541375
78CSNK1A1L0.46955399
79KDR0.46159823
80IRAK10.43796575
81CSNK2A10.42444061
82PIK3CA0.41763201
83MYLK0.41331236
84CSNK2A20.40828205
85PRKCE0.39022582
86CSNK1G20.38574198
87PINK10.36169843
88PRKCQ0.36164932
89RPS6KA40.34291105
90SYK0.33768771
91IGF1R0.33215694
92MAPK130.31193904
93DYRK20.30871182
94DYRK30.30570451
95BCR0.30204841
96CDK70.30162741
97PRKCG0.28466190
98CHEK10.26260895
99MAPKAPK30.25918170
100CSNK1E0.25435090

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.94304437
2Protein export_Homo sapiens_hsa030603.00330052
3Oxidative phosphorylation_Homo sapiens_hsa001902.86839760
4RNA polymerase_Homo sapiens_hsa030202.66584125
5Asthma_Homo sapiens_hsa053102.64722905
6Parkinsons disease_Homo sapiens_hsa050122.59008977
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.56449850
8Homologous recombination_Homo sapiens_hsa034402.50448049
9Mismatch repair_Homo sapiens_hsa034302.33350936
10DNA replication_Homo sapiens_hsa030302.26070237
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.05729696
12Intestinal immune network for IgA production_Homo sapiens_hsa046722.04075016
13Allograft rejection_Homo sapiens_hsa053302.03899739
14One carbon pool by folate_Homo sapiens_hsa006701.95533128
15RNA degradation_Homo sapiens_hsa030181.93045776
16Non-homologous end-joining_Homo sapiens_hsa034501.91098611
17Ribosome_Homo sapiens_hsa030101.85421430
18Propanoate metabolism_Homo sapiens_hsa006401.82760008
19Autoimmune thyroid disease_Homo sapiens_hsa053201.81426044
20Basal transcription factors_Homo sapiens_hsa030221.75883301
21Fanconi anemia pathway_Homo sapiens_hsa034601.71283458
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70152929
23RNA transport_Homo sapiens_hsa030131.68279119
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.67100284
25Nucleotide excision repair_Homo sapiens_hsa034201.63168876
26Huntingtons disease_Homo sapiens_hsa050161.60562400
27Base excision repair_Homo sapiens_hsa034101.53603624
28Primary immunodeficiency_Homo sapiens_hsa053401.52748662
29Spliceosome_Homo sapiens_hsa030401.50132649
30Graft-versus-host disease_Homo sapiens_hsa053321.41643932
31Cysteine and methionine metabolism_Homo sapiens_hsa002701.41179642
32Alzheimers disease_Homo sapiens_hsa050101.39568921
33Type I diabetes mellitus_Homo sapiens_hsa049401.36427222
34Pyrimidine metabolism_Homo sapiens_hsa002401.27395685
35Vitamin B6 metabolism_Homo sapiens_hsa007501.26737954
36Purine metabolism_Homo sapiens_hsa002301.25913387
37Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.25290425
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24503595
39Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.22043825
40Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.22002293
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.21146493
42Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.12580868
43Butanoate metabolism_Homo sapiens_hsa006501.02215490
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.01615626
45Antigen processing and presentation_Homo sapiens_hsa046121.00627837
46Caffeine metabolism_Homo sapiens_hsa002320.92415030
47Peroxisome_Homo sapiens_hsa041460.88412084
48Nitrogen metabolism_Homo sapiens_hsa009100.87266482
49Phototransduction_Homo sapiens_hsa047440.84567598
50Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.83692324
51Linoleic acid metabolism_Homo sapiens_hsa005910.82797119
52Selenocompound metabolism_Homo sapiens_hsa004500.82250443
53Tryptophan metabolism_Homo sapiens_hsa003800.81279419
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79338882
55Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.73332340
56Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.72066561
57Cardiac muscle contraction_Homo sapiens_hsa042600.71035749
58Rheumatoid arthritis_Homo sapiens_hsa053230.69751358
59Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69732920
60Fatty acid elongation_Homo sapiens_hsa000620.69732540
61Cell cycle_Homo sapiens_hsa041100.67692370
62Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64331486
63Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63909296
64p53 signaling pathway_Homo sapiens_hsa041150.63469090
65Metabolic pathways_Homo sapiens_hsa011000.62987235
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62600431
67Pyruvate metabolism_Homo sapiens_hsa006200.60863483
68Regulation of autophagy_Homo sapiens_hsa041400.58746963
69Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58550688
70Hematopoietic cell lineage_Homo sapiens_hsa046400.54221300
71Glutathione metabolism_Homo sapiens_hsa004800.53818799
72Sulfur metabolism_Homo sapiens_hsa009200.52062987
73Steroid biosynthesis_Homo sapiens_hsa001000.49018748
74alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.46652834
75Olfactory transduction_Homo sapiens_hsa047400.45730405
76Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.44605227
77Epstein-Barr virus infection_Homo sapiens_hsa051690.44296039
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.43974138
79Collecting duct acid secretion_Homo sapiens_hsa049660.43600655
80Ether lipid metabolism_Homo sapiens_hsa005650.42457066
81Fat digestion and absorption_Homo sapiens_hsa049750.41355688
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.41035254
83Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.41010263
84Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.40242557
85SNARE interactions in vesicular transport_Homo sapiens_hsa041300.38728355
86Carbon metabolism_Homo sapiens_hsa012000.38199673
87Chemical carcinogenesis_Homo sapiens_hsa052040.37781377
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37023211
89Vitamin digestion and absorption_Homo sapiens_hsa049770.36585480
90mRNA surveillance pathway_Homo sapiens_hsa030150.35389192
91Retinol metabolism_Homo sapiens_hsa008300.34227999
92Biosynthesis of amino acids_Homo sapiens_hsa012300.32931623
93NF-kappa B signaling pathway_Homo sapiens_hsa040640.32456583
94Primary bile acid biosynthesis_Homo sapiens_hsa001200.30756531
95Oocyte meiosis_Homo sapiens_hsa041140.30041001
96Viral myocarditis_Homo sapiens_hsa054160.29749079
97Systemic lupus erythematosus_Homo sapiens_hsa053220.29620184
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.27833664
99Starch and sucrose metabolism_Homo sapiens_hsa005000.27150068
100Arachidonic acid metabolism_Homo sapiens_hsa005900.26505210

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