PTPMT1

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
1ribosomal small subunit biogenesis (GO:0042274)6.58631034
2ribosomal small subunit assembly (GO:0000028)5.64156517
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.61211648
4viral transcription (GO:0019083)5.33730035
5deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.28852297
6translational termination (GO:0006415)5.15013975
7ribosomal large subunit biogenesis (GO:0042273)5.01096576
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.95043853
9energy coupled proton transport, down electrochemical gradient (GO:0015985)4.92084067
10ATP synthesis coupled proton transport (GO:0015986)4.92084067
11proteasome assembly (GO:0043248)4.86308231
12cotranslational protein targeting to membrane (GO:0006613)4.86027825
13protein targeting to ER (GO:0045047)4.84246175
14mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.82707369
15chaperone-mediated protein transport (GO:0072321)4.81654302
16regulation of mitochondrial translation (GO:0070129)4.71848442
17respiratory electron transport chain (GO:0022904)4.68328653
18establishment of protein localization to endoplasmic reticulum (GO:0072599)4.64293907
19protein localization to endoplasmic reticulum (GO:0070972)4.63741749
20translational elongation (GO:0006414)4.60510232
21electron transport chain (GO:0022900)4.58175587
22maturation of SSU-rRNA (GO:0030490)4.47486922
23protein maturation by protein folding (GO:0022417)4.36220635
24establishment of protein localization to mitochondrial membrane (GO:0090151)4.34747072
25viral life cycle (GO:0019058)4.11849774
26translation (GO:0006412)4.10791305
27ribonucleoprotein complex biogenesis (GO:0022613)4.09360175
28negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.09245860
29translational initiation (GO:0006413)4.07749849
30protein targeting to mitochondrion (GO:0006626)4.01549462
31cellular protein complex disassembly (GO:0043624)3.95416977
32nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.94080375
33protein complex biogenesis (GO:0070271)3.88649728
34pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.88187180
35negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.84759778
36negative regulation of ligase activity (GO:0051352)3.84759778
37cellular component biogenesis (GO:0044085)3.82702218
38positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.79137125
39oxidative phosphorylation (GO:0006119)3.77270036
40regulation of cellular amino acid metabolic process (GO:0006521)3.74234517
41mitochondrial respiratory chain complex assembly (GO:0033108)3.72875090
42regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.67871313
43termination of RNA polymerase III transcription (GO:0006386)3.66476242
44transcription elongation from RNA polymerase III promoter (GO:0006385)3.66476242
45establishment of protein localization to mitochondrion (GO:0072655)3.65932497
46protein localization to mitochondrion (GO:0070585)3.62788845
47rRNA modification (GO:0000154)3.62441924
48pseudouridine synthesis (GO:0001522)3.54902101
49mitochondrial respiratory chain complex I assembly (GO:0032981)3.54216946
50NADH dehydrogenase complex assembly (GO:0010257)3.54216946
51mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.54216946
52anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.53651426
53telomere maintenance via semi-conservative replication (GO:0032201)3.53263813
54rRNA processing (GO:0006364)3.51351036
55ncRNA 3-end processing (GO:0043628)3.48998359
562-deoxyribonucleotide biosynthetic process (GO:0009265)3.42989648
57deoxyribose phosphate biosynthetic process (GO:0046385)3.42989648
58DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.42653839
59formation of translation preinitiation complex (GO:0001731)3.40368060
60GTP biosynthetic process (GO:0006183)3.39536390
61pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.39053404
62intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.36022774
63signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.36022774
64positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.34300809
65protein complex disassembly (GO:0043241)3.33460561
66signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.32343886
67signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.32343886
68signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.32343886
69rRNA metabolic process (GO:0016072)3.31702285
70DNA strand elongation involved in DNA replication (GO:0006271)3.30196167
71guanosine-containing compound biosynthetic process (GO:1901070)3.29646719
72pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.28936051
73ribosome assembly (GO:0042255)3.27139495
74protein targeting to membrane (GO:0006612)3.26876071
75establishment of integrated proviral latency (GO:0075713)3.26506334
76signal transduction involved in DNA integrity checkpoint (GO:0072401)3.25463673
77signal transduction involved in DNA damage checkpoint (GO:0072422)3.25463673
78nucleobase-containing small molecule interconversion (GO:0015949)3.24635711
79purine nucleotide salvage (GO:0032261)3.23902276
80nucleoside salvage (GO:0043174)3.23630619
81positive regulation of ligase activity (GO:0051351)3.21268636
82macromolecular complex disassembly (GO:0032984)3.21221287
83DNA strand elongation (GO:0022616)3.19056685
84signal transduction involved in cell cycle checkpoint (GO:0072395)3.16764291
85deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.16110758
86deoxyribonucleotide catabolic process (GO:0009264)3.15075928
87respiratory chain complex IV assembly (GO:0008535)3.12430178
88deoxyribose phosphate catabolic process (GO:0046386)3.11707781
89antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.10523045
90UTP biosynthetic process (GO:0006228)3.09205859
91cytochrome complex assembly (GO:0017004)3.08878835
92pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.06818296
93pyrimidine nucleotide catabolic process (GO:0006244)3.06792586
94mitochondrial transport (GO:0006839)3.06010241
95RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.05172282
96tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.05172282
97UTP metabolic process (GO:0046051)3.05095322
98pteridine-containing compound biosynthetic process (GO:0042559)3.04539579
99aerobic respiration (GO:0009060)3.02438700
100nucleotide salvage (GO:0043173)3.01755521

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.46811098
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.28301471
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.97294586
4E2F7_22180533_ChIP-Seq_HELA_Human3.95441087
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.87216682
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.71434010
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.46664054
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.30925012
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.30846413
10EST1_17652178_ChIP-ChIP_JURKAT_Human3.26908600
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.23245427
12MYC_18358816_ChIP-ChIP_MESCs_Mouse3.22837741
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.17722903
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.74646544
15MYC_19030024_ChIP-ChIP_MESCs_Mouse2.71786428
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.69806992
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.64609885
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.60242746
19DCP1A_22483619_ChIP-Seq_HELA_Human2.50736238
20* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.41621956
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.39434894
22XRN2_22483619_ChIP-Seq_HELA_Human2.38359389
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.28373978
24VDR_23849224_ChIP-Seq_CD4+_Human2.23344716
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.22432473
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.18571012
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.13469419
28GABP_19822575_ChIP-Seq_HepG2_Human2.10599432
29FOXP3_21729870_ChIP-Seq_TREG_Human2.09772692
30ZNF263_19887448_ChIP-Seq_K562_Human1.99313401
31FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.97786014
32* TTF2_22483619_ChIP-Seq_HELA_Human1.97006310
33E2F4_17652178_ChIP-ChIP_JURKAT_Human1.93435307
34ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.86627933
35PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84015256
36SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.81658357
37CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.81357641
38* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.78628785
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76378442
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.75485852
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.72987054
42MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.72827286
43TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.72144264
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.71948498
45ELK1_19687146_ChIP-ChIP_HELA_Human1.71352590
46TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69260257
47BP1_19119308_ChIP-ChIP_Hs578T_Human1.61657975
48FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.59896852
49CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.51548008
50MYCN_18555785_ChIP-Seq_MESCs_Mouse1.50866968
51* KDM5A_27292631_Chip-Seq_BREAST_Human1.48681780
52ERG_20887958_ChIP-Seq_HPC-7_Mouse1.46855621
53DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.46099472
54POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.45712164
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.44591588
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.40525748
57CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.35173084
58SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.34702209
59CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.34354590
60E2F1_21310950_ChIP-Seq_MCF-7_Human1.34271551
61AR_21909140_ChIP-Seq_LNCAP_Human1.30095801
62MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.29181909
63CTCF_18555785_ChIP-Seq_MESCs_Mouse1.27802406
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25415781
65NANOG_18555785_ChIP-Seq_MESCs_Mouse1.22297504
66YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21959797
67MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.21054489
68CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.20708929
69* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.19537700
70TFEB_21752829_ChIP-Seq_HELA_Human1.18413426
71CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.15786069
72HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13301932
73PADI4_21655091_ChIP-ChIP_MCF-7_Human1.12584447
74SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.12079185
75FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.10394417
76SRY_22984422_ChIP-ChIP_TESTIS_Rat1.05731832
77ESR1_15608294_ChIP-ChIP_MCF-7_Human1.05480760
78* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.04954894
79HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.02636088
80NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02276917
81KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01902748
82MYC_18940864_ChIP-ChIP_HL60_Human1.01052893
83* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.00353604
84* FOXP1_21924763_ChIP-Seq_HESCs_Human0.99933747
85STAT3_1855785_ChIP-Seq_MESCs_Mouse0.99836685
86ELK1_22589737_ChIP-Seq_MCF10A_Human0.99605802
87CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.99033813
88TBX5_21415370_ChIP-Seq_HL-1_Mouse0.97376413
89SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.94444972
90SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.92919115
91KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91578642
92TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91160263
93TET1_21451524_ChIP-Seq_MESCs_Mouse0.87670120
94ELF5_23300383_ChIP-Seq_T47D_Human0.85880143
95TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.84970223
96CTCF_26484167_Chip-Seq_Bcells_Mouse0.83528493
97ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.80646589
98TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80417457
99OCT4_18692474_ChIP-Seq_MEFs_Mouse0.79830295
100SPI1_23547873_ChIP-Seq_NB4_Human0.78596353

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis5.79465520
2MP0003186_abnormal_redox_activity4.14123958
3MP0008058_abnormal_DNA_repair3.55168562
4MP0006036_abnormal_mitochondrial_physio3.49388482
5MP0009379_abnormal_foot_pigmentation3.36336634
6MP0003693_abnormal_embryo_hatching3.30104624
7MP0004957_abnormal_blastocyst_morpholog3.03014047
8MP0010094_abnormal_chromosome_stability2.95866298
9MP0003786_premature_aging2.55573823
10MP0006035_abnormal_mitochondrial_morpho2.51251247
11MP0005058_abnormal_lysosome_morphology2.42498425
12MP0009697_abnormal_copulation2.33157171
13MP0008007_abnormal_cellular_replicative2.28845251
14MP0003123_paternal_imprinting2.20724143
15MP0003718_maternal_effect2.18247006
16MP0002837_dystrophic_cardiac_calcinosis2.16602424
17MP0003077_abnormal_cell_cycle2.10878496
18MP0008932_abnormal_embryonic_tissue2.07352720
19MP0003111_abnormal_nucleus_morphology2.05555542
20MP0001727_abnormal_embryo_implantation2.04114444
21MP0001853_heart_inflammation1.94169143
22MP0001881_abnormal_mammary_gland1.92851459
23MP0002877_abnormal_melanocyte_morpholog1.84071721
24MP0002163_abnormal_gland_morphology1.78510037
25MP0005379_endocrine/exocrine_gland_phen1.76833576
26MP0008875_abnormal_xenobiotic_pharmacok1.74937287
27MP0000358_abnormal_cell_content/1.74171452
28MP0003315_abnormal_perineum_morphology1.71272408
29MP0002160_abnormal_reproductive_system1.67775389
30MP0001764_abnormal_homeostasis1.65006615
31MP0002148_abnormal_hypersensitivity_rea1.60701615
32MP0009333_abnormal_splenocyte_physiolog1.56809899
33MP0005501_abnormal_skin_physiology1.44216615
34MP0001905_abnormal_dopamine_level1.41119160
35MP0000490_abnormal_crypts_of1.38791778
36MP0005646_abnormal_pituitary_gland1.34293184
37MP0005389_reproductive_system_phenotype1.31131965
38MP0004233_abnormal_muscle_weight1.26852333
39MP0005084_abnormal_gallbladder_morpholo1.26297109
40MP0005636_abnormal_mineral_homeostasis1.24224984
41MP0006292_abnormal_olfactory_placode1.23270358
42MP0005319_abnormal_enzyme/_coenzyme1.21552699
43MP0000313_abnormal_cell_death1.18734850
44MP0000343_altered_response_to1.18156127
45MP0002019_abnormal_tumor_incidence1.17352331
46MP0003011_delayed_dark_adaptation1.15142351
47MP0003941_abnormal_skin_development1.13423873
48MP0005165_increased_susceptibility_to1.12289291
49MP0001919_abnormal_reproductive_system1.10896192
50MP0003075_altered_response_to1.10501751
51MP0005408_hypopigmentation1.09898155
52MP0005220_abnormal_exocrine_pancreas1.09082579
53MP0005075_abnormal_melanosome_morpholog1.08703845
54MP0001873_stomach_inflammation1.07831383
55MP0006082_CNS_inflammation1.06392978
56MP0000627_abnormal_mammary_gland1.04282924
57MP0008873_increased_physiological_sensi1.04158411
58MP0003191_abnormal_cellular_cholesterol1.03688299
59MP0005410_abnormal_fertilization1.01944762
60MP0000350_abnormal_cell_proliferation0.99622882
61MP0000372_irregular_coat_pigmentation0.97780346
62MP0000681_abnormal_thyroid_gland0.94799648
63MP0005330_cardiomyopathy0.94721603
64MP0002796_impaired_skin_barrier0.92965312
65MP0005367_renal/urinary_system_phenotyp0.92829698
66MP0000516_abnormal_urinary_system0.92829698
67MP0009785_altered_susceptibility_to0.92186075
68MP0005083_abnormal_biliary_tract0.91704770
69MP0005332_abnormal_amino_acid0.90680348
70MP0004147_increased_porphyrin_level0.88642953
71MP0005397_hematopoietic_system_phenotyp0.88083423
72MP0001545_abnormal_hematopoietic_system0.88083423
73MP0002210_abnormal_sex_determination0.87020535
74MP0006072_abnormal_retinal_apoptosis0.84587494
75MP0005584_abnormal_enzyme/coenzyme_acti0.82899915
76MP0005670_abnormal_white_adipose0.81856188
77MP0008469_abnormal_protein_level0.79431052
78MP0001661_extended_life_span0.77965856
79MP0002095_abnormal_skin_pigmentation0.76424240
80MP0001145_abnormal_male_reproductive0.76133684
81MP0001929_abnormal_gametogenesis0.75569290
82MP0004510_myositis0.71815905
83MP0002277_abnormal_respiratory_mucosa0.71485925
84MP0000653_abnormal_sex_gland0.71361178
85MP0005266_abnormal_metabolism0.71059915
86MP0002693_abnormal_pancreas_physiology0.69240717
87MP0001730_embryonic_growth_arrest0.68677933
88MP0004185_abnormal_adipocyte_glucose0.68416724
89MP0002234_abnormal_pharynx_morphology0.68097992
90MP0002090_abnormal_vision0.67920651
91MP0009643_abnormal_urine_homeostasis0.67355695
92MP0004808_abnormal_hematopoietic_stem0.66753762
93MP0003172_abnormal_lysosome_physiology0.66501277
94MP0003195_calcinosis0.65890498
95MP0001529_abnormal_vocalization0.65505099
96MP0001542_abnormal_bone_strength0.63964052
97MP0009840_abnormal_foam_cell0.63215497
98MP0002080_prenatal_lethality0.62822678
99MP0001944_abnormal_pancreas_morphology0.61218585
100MP0001697_abnormal_embryo_size0.59261988

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.64928223
2Abnormal mitochondria in muscle tissue (HP:0008316)5.51093732
3Mitochondrial inheritance (HP:0001427)5.17019152
4Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.97393332
5Decreased activity of mitochondrial respiratory chain (HP:0008972)4.97393332
6Acute encephalopathy (HP:0006846)4.86004749
7Increased CSF lactate (HP:0002490)4.82444661
8Increased hepatocellular lipid droplets (HP:0006565)4.63636710
9Hepatocellular necrosis (HP:0001404)4.59135174
10Progressive macrocephaly (HP:0004481)4.58996560
11Hepatic necrosis (HP:0002605)4.41638495
12Increased intramyocellular lipid droplets (HP:0012240)4.38326549
13Lipid accumulation in hepatocytes (HP:0006561)4.23500773
14Cerebral edema (HP:0002181)4.08645641
15Renal Fanconi syndrome (HP:0001994)4.06690522
16Increased muscle lipid content (HP:0009058)3.84483320
17Abnormality of cells of the erythroid lineage (HP:0012130)3.78388108
18Lactic acidosis (HP:0003128)3.67733421
19Abnormal number of erythroid precursors (HP:0012131)3.49857064
20Increased serum lactate (HP:0002151)3.45638423
21Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.41841867
22Macrocytic anemia (HP:0001972)3.41437427
23Exercise intolerance (HP:0003546)3.36703154
243-Methylglutaconic aciduria (HP:0003535)3.34194408
25Respiratory failure (HP:0002878)3.25468969
26Aplasia/Hypoplasia of the sacrum (HP:0008517)3.25226007
27Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.20666854
28Exertional dyspnea (HP:0002875)3.18144197
29Type I transferrin isoform profile (HP:0003642)3.15487736
30Reticulocytopenia (HP:0001896)3.09428680
31Respiratory difficulties (HP:0002880)2.80022331
32Testicular atrophy (HP:0000029)2.77372360
33Microvesicular hepatic steatosis (HP:0001414)2.72551784
34Increased serum pyruvate (HP:0003542)2.67128856
35Progressive muscle weakness (HP:0003323)2.62954585
36Aplastic anemia (HP:0001915)2.60321616
37Lethargy (HP:0001254)2.58839613
38Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.54905051
39Abnormality of alanine metabolism (HP:0010916)2.54905051
40Hyperalaninemia (HP:0003348)2.54905051
41Dicarboxylic aciduria (HP:0003215)2.52410984
42Abnormality of dicarboxylic acid metabolism (HP:0010995)2.52410984
43Microretrognathia (HP:0000308)2.52163131
44Leukodystrophy (HP:0002415)2.50034664
45Abnormality of aromatic amino acid family metabolism (HP:0004338)2.49449735
46Multiple enchondromatosis (HP:0005701)2.48048937
47Optic disc pallor (HP:0000543)2.42320438
48Abnormality of the anterior horn cell (HP:0006802)2.42315149
49Degeneration of anterior horn cells (HP:0002398)2.42315149
50Pallor (HP:0000980)2.38068154
51Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.37200633
52Abnormal protein N-linked glycosylation (HP:0012347)2.37200633
53Abnormal protein glycosylation (HP:0012346)2.37200633
54Abnormal glycosylation (HP:0012345)2.37200633
55CNS demyelination (HP:0007305)2.35778154
56Abnormality of glycolysis (HP:0004366)2.33746979
57Abnormality of glycolipid metabolism (HP:0010969)2.30791886
58Abnormality of liposaccharide metabolism (HP:0010968)2.30791886
59Abnormality of glycosphingolipid metabolism (HP:0004343)2.30791886
60Opisthotonus (HP:0002179)2.27084931
61Abnormality of renal resorption (HP:0011038)2.27056182
62Reduced antithrombin III activity (HP:0001976)2.27004130
63Ragged-red muscle fibers (HP:0003200)2.25733185
64Generalized aminoaciduria (HP:0002909)2.18326631
65Emotional lability (HP:0000712)2.17262593
66Hepatosplenomegaly (HP:0001433)2.13156795
67Sparse eyelashes (HP:0000653)2.12561797
68Decreased electroretinogram (ERG) amplitude (HP:0000654)2.11140278
69Pancytopenia (HP:0001876)2.10412172
70Hyperphosphaturia (HP:0003109)2.05863497
71Oral leukoplakia (HP:0002745)2.04017641
72Methylmalonic aciduria (HP:0012120)2.00838993
73Progressive neurologic deterioration (HP:0002344)1.98625274
74Fasciculations (HP:0002380)1.95884944
75Nausea (HP:0002018)1.93391189
76Cleft eyelid (HP:0000625)1.93184934
77Rough bone trabeculation (HP:0100670)1.89515013
78Prolonged neonatal jaundice (HP:0006579)1.88648484
79Abnormality of urine glucose concentration (HP:0011016)1.87335442
80Glycosuria (HP:0003076)1.87335442
81Cerebral hypomyelination (HP:0006808)1.86344686
82Death in infancy (HP:0001522)1.85954593
83Spastic paraparesis (HP:0002313)1.82682219
84Abnormality of methionine metabolism (HP:0010901)1.81604226
85Vacuolated lymphocytes (HP:0001922)1.81088422
86Sensory axonal neuropathy (HP:0003390)1.80222390
87Hypokinesia (HP:0002375)1.79850191
88Congenital, generalized hypertrichosis (HP:0004540)1.78237703
89Hypoglycemic coma (HP:0001325)1.77479263
90Neoplasm of head and neck (HP:0012288)1.74721938
91Esophageal neoplasm (HP:0100751)1.74721938
92Gliosis (HP:0002171)1.74155565
93Abnormality of serum amino acid levels (HP:0003112)1.71812997
94Entropion (HP:0000621)1.69861155
95Progressive microcephaly (HP:0000253)1.69818060
96Abnormality of fatty-acid metabolism (HP:0004359)1.69644980
97Methylmalonic acidemia (HP:0002912)1.69582453
98X-linked dominant inheritance (HP:0001423)1.67306424
99Blindness (HP:0000618)1.67126653
100Concave nail (HP:0001598)1.64952928

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NME25.90061702
2VRK23.88563814
3BCKDK3.38181200
4BUB13.12196498
5TESK13.01464976
6STK162.90210314
7PBK2.84393442
8TESK22.70800976
9NEK12.64744482
10SCYL22.54284260
11EIF2AK12.50816466
12LIMK12.26514382
13ARAF2.19438313
14PIM22.16281093
15CDC71.99842927
16ABL21.97622497
17PDK21.97529254
18MST41.90193301
19EIF2AK31.79000248
20MAP3K121.77234874
21VRK11.71228259
22IRAK31.71036995
23SRPK11.61527146
24TLK11.60621382
25KDR1.56732743
26RPS6KB21.56605335
27MAPKAPK31.47030707
28CDK191.40138009
29PLK41.24734683
30NME11.24362553
31DAPK11.18694152
32ILK1.09643952
33CDK81.02821254
34PLK11.01571716
35EPHA21.00903528
36KIT1.00740137
37ZAK0.98197653
38LRRK20.97751651
39AURKB0.89995221
40CSNK1G30.89885466
41AURKA0.89875134
42PAK40.89463209
43DYRK30.86943407
44TTK0.84036226
45MAP3K110.83255803
46TSSK60.78714007
47IKBKB0.77613055
48RPS6KA40.77282444
49ATR0.71821742
50MST1R0.71366551
51CSNK2A20.70123973
52RPS6KA50.70005414
53WEE10.69827697
54NUAK10.68002698
55PLK30.66575697
56CSNK2A10.66329518
57FLT30.63521200
58CDK70.61988612
59CSNK1G10.60841797
60CSF1R0.59427641
61DAPK30.58853855
62PRKCI0.57955377
63CSNK1G20.57149831
64MAPKAPK50.56549023
65CCNB10.55502303
66TBK10.55330987
67EIF2AK20.53757808
68CAMK2G0.53597731
69CHEK20.53295859
70MUSK0.50973242
71CSNK1A1L0.50382785
72MAP4K20.47738257
73BRSK10.45845502
74TAOK20.44132143
75PAK10.43159342
76TEC0.42599456
77BRAF0.42147747
78MAP2K70.41699772
79PHKG20.40660454
80PHKG10.40660454
81ERBB40.39237263
82BMPR20.38682828
83MYLK0.37678543
84CAMK2D0.37484269
85ATM0.33257130
86AKT20.33166170
87MAP3K80.32310865
88CSNK1A10.31798335
89CHEK10.29273583
90TRIM280.28702612
91CDK140.26158402
92STK100.25846283
93GRK10.25572250
94STK40.24723720
95CDK30.23577171
96PASK0.23309023
97PRKCD0.21193115
98CDK11A0.20800835
99CAMK2B0.19055745
100ALK0.18771614

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.85539172
2Proteasome_Homo sapiens_hsa030504.37739516
3Oxidative phosphorylation_Homo sapiens_hsa001904.02831530
4Parkinsons disease_Homo sapiens_hsa050123.36804868
5DNA replication_Homo sapiens_hsa030303.34850176
6Mismatch repair_Homo sapiens_hsa034302.79841077
7RNA polymerase_Homo sapiens_hsa030202.61938227
8Huntingtons disease_Homo sapiens_hsa050162.39432373
9Homologous recombination_Homo sapiens_hsa034402.33450226
10Base excision repair_Homo sapiens_hsa034102.28802457
11Protein export_Homo sapiens_hsa030602.24880218
12Alzheimers disease_Homo sapiens_hsa050102.24484060
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.20288059
14Pyrimidine metabolism_Homo sapiens_hsa002402.16934386
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.10801948
16Nucleotide excision repair_Homo sapiens_hsa034202.06765456
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.99166843
18Folate biosynthesis_Homo sapiens_hsa007901.78645444
19Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.77976450
20Spliceosome_Homo sapiens_hsa030401.63308039
21Fatty acid elongation_Homo sapiens_hsa000621.62829677
22One carbon pool by folate_Homo sapiens_hsa006701.57613409
23Glutathione metabolism_Homo sapiens_hsa004801.54540615
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.50575316
25Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46040743
26Sulfur relay system_Homo sapiens_hsa041221.45845065
27Pyruvate metabolism_Homo sapiens_hsa006201.43066914
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.38206425
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.37825260
30Purine metabolism_Homo sapiens_hsa002301.33000488
31Fanconi anemia pathway_Homo sapiens_hsa034601.32979374
32Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.28335670
33RNA transport_Homo sapiens_hsa030131.22734960
34Non-homologous end-joining_Homo sapiens_hsa034501.21942296
35Sulfur metabolism_Homo sapiens_hsa009201.21039145
36Cardiac muscle contraction_Homo sapiens_hsa042601.20608879
37Carbon metabolism_Homo sapiens_hsa012001.16960154
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.12203723
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.06183059
40Biosynthesis of amino acids_Homo sapiens_hsa012300.97491993
41Pentose phosphate pathway_Homo sapiens_hsa000300.96906939
42Peroxisome_Homo sapiens_hsa041460.96617613
43SNARE interactions in vesicular transport_Homo sapiens_hsa041300.90427797
44RNA degradation_Homo sapiens_hsa030180.88922653
45Metabolic pathways_Homo sapiens_hsa011000.86860854
46Other glycan degradation_Homo sapiens_hsa005110.83234311
47Basal transcription factors_Homo sapiens_hsa030220.82807731
48N-Glycan biosynthesis_Homo sapiens_hsa005100.76485952
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.74348540
50Asthma_Homo sapiens_hsa053100.73000147
51Propanoate metabolism_Homo sapiens_hsa006400.72538643
52Lysosome_Homo sapiens_hsa041420.70845231
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.70754503
54Collecting duct acid secretion_Homo sapiens_hsa049660.70005770
55Cell cycle_Homo sapiens_hsa041100.69284394
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68857193
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60978939
58Rheumatoid arthritis_Homo sapiens_hsa053230.60791073
59Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.59763189
60Glycosaminoglycan degradation_Homo sapiens_hsa005310.57329587
61Phenylalanine metabolism_Homo sapiens_hsa003600.57177120
62Tyrosine metabolism_Homo sapiens_hsa003500.55307404
63Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.54585708
64Galactose metabolism_Homo sapiens_hsa000520.53508602
65Vibrio cholerae infection_Homo sapiens_hsa051100.53165543
66Vitamin B6 metabolism_Homo sapiens_hsa007500.52517014
67Systemic lupus erythematosus_Homo sapiens_hsa053220.50126405
68beta-Alanine metabolism_Homo sapiens_hsa004100.49511762
69Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46974059
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45486479
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.44938606
72Fatty acid degradation_Homo sapiens_hsa000710.44921660
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.44382960
74Fatty acid metabolism_Homo sapiens_hsa012120.43591008
75Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.39382639
76Epstein-Barr virus infection_Homo sapiens_hsa051690.38501503
77Fructose and mannose metabolism_Homo sapiens_hsa000510.37664604
78Tryptophan metabolism_Homo sapiens_hsa003800.36847138
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.36116093
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36006751
81Antigen processing and presentation_Homo sapiens_hsa046120.35583262
82Type I diabetes mellitus_Homo sapiens_hsa049400.34747342
83Selenocompound metabolism_Homo sapiens_hsa004500.34739840
84Arginine and proline metabolism_Homo sapiens_hsa003300.33122585
85p53 signaling pathway_Homo sapiens_hsa041150.32395586
86Chemical carcinogenesis_Homo sapiens_hsa052040.28838849
87Primary immunodeficiency_Homo sapiens_hsa053400.28109541
88Allograft rejection_Homo sapiens_hsa053300.26468634
89Primary bile acid biosynthesis_Homo sapiens_hsa001200.25498671
90Autoimmune thyroid disease_Homo sapiens_hsa053200.24480932
91Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.24453780
92Steroid biosynthesis_Homo sapiens_hsa001000.24312509
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.23730929
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22378215
95Arachidonic acid metabolism_Homo sapiens_hsa005900.22103302
96Regulation of autophagy_Homo sapiens_hsa041400.17414266
97Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.13723985
98Caffeine metabolism_Homo sapiens_hsa002320.13443783
99Maturity onset diabetes of the young_Homo sapiens_hsa049500.13392055
100Legionellosis_Homo sapiens_hsa051340.13126454

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