MTMR8

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: This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)5.06476042
2DNA deamination (GO:0045006)4.95397214
3regulation of cytokine production involved in inflammatory response (GO:1900015)4.40874598
4pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.17634311
5maturation of 5.8S rRNA (GO:0000460)4.09025053
6transcription from mitochondrial promoter (GO:0006390)4.06040816
7DNA topological change (GO:0006265)3.95853809
8pyrimidine nucleotide catabolic process (GO:0006244)3.92598719
9synapsis (GO:0007129)3.88496426
10mismatch repair (GO:0006298)3.78316473
11histone H2A acetylation (GO:0043968)3.73816842
12nuclear pore complex assembly (GO:0051292)3.71967095
13proteasome assembly (GO:0043248)3.65246636
14telomere maintenance via semi-conservative replication (GO:0032201)3.61023761
15positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.58838965
16deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.58760992
17regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.56816159
18DNA catabolic process, exonucleolytic (GO:0000738)3.53953830
19DNA strand elongation involved in DNA replication (GO:0006271)3.52918316
20regulation of nuclear cell cycle DNA replication (GO:0033262)3.50586285
21protein K6-linked ubiquitination (GO:0085020)3.37131319
22mitotic recombination (GO:0006312)3.34167492
23positive regulation of gamma-delta T cell activation (GO:0046645)3.33573571
24telomere maintenance via recombination (GO:0000722)3.30756552
25nuclear pore organization (GO:0006999)3.30259809
26deoxyribonucleotide catabolic process (GO:0009264)3.29601663
27DNA strand elongation (GO:0022616)3.29190070
28deoxyribose phosphate catabolic process (GO:0046386)3.25057812
29DNA ligation (GO:0006266)3.24888557
30cytidine deamination (GO:0009972)3.21557590
31cytidine metabolic process (GO:0046087)3.21557590
32cytidine catabolic process (GO:0006216)3.21557590
33somatic hypermutation of immunoglobulin genes (GO:0016446)3.14282778
34somatic diversification of immune receptors via somatic mutation (GO:0002566)3.14282778
35RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.12140112
36pyrimidine ribonucleoside catabolic process (GO:0046133)3.08633229
37ribosomal small subunit assembly (GO:0000028)3.08304175
38pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.05346709
39pore complex assembly (GO:0046931)3.04354050
40somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.03967964
41somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.03967964
42isotype switching (GO:0045190)3.03967964
43lysine metabolic process (GO:0006553)3.03657459
44lysine catabolic process (GO:0006554)3.03657459
45negative regulation of DNA-dependent DNA replication (GO:2000104)3.03494039
46DNA replication checkpoint (GO:0000076)3.01741639
47regulation of fibroblast apoptotic process (GO:2000269)3.00422060
48nucleotide-excision repair, DNA gap filling (GO:0006297)2.97276140
49DNA replication initiation (GO:0006270)2.95579659
50negative regulation of mRNA processing (GO:0050686)2.95119572
51positive regulation of granulocyte differentiation (GO:0030854)2.94872157
52establishment of integrated proviral latency (GO:0075713)2.93123579
53RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.89162778
54tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.89162778
55mitotic nuclear envelope disassembly (GO:0007077)2.88257418
56nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.85932747
57double-strand break repair via nonhomologous end joining (GO:0006303)2.80448403
58non-recombinational repair (GO:0000726)2.80448403
59mitochondrial RNA metabolic process (GO:0000959)2.76885102
60kinetochore organization (GO:0051383)2.76260336
61histone mRNA metabolic process (GO:0008334)2.75356311
62exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.73045740
63DNA methylation involved in gamete generation (GO:0043046)2.72066438
64somatic diversification of immunoglobulins (GO:0016445)2.71675019
65histone mRNA catabolic process (GO:0071044)2.71497367
66kinetochore assembly (GO:0051382)2.70703920
67negative regulation of RNA splicing (GO:0033119)2.69759235
68somatic diversification of immune receptors (GO:0002200)2.68922478
69purine nucleobase biosynthetic process (GO:0009113)2.68771052
70oxidative phosphorylation (GO:0006119)2.68646101
71positive regulation of histone H3-K4 methylation (GO:0051571)2.67525183
72piRNA metabolic process (GO:0034587)2.66365184
73regulation of gamma-delta T cell differentiation (GO:0045586)2.66205988
74postreplication repair (GO:0006301)2.64577547
75purine deoxyribonucleotide catabolic process (GO:0009155)2.64517111
76chaperone-mediated protein transport (GO:0072321)2.64496277
77negative regulation of thymocyte apoptotic process (GO:0070244)2.64197614
78sister chromatid segregation (GO:0000819)2.63731003
79somatic recombination of immunoglobulin gene segments (GO:0016447)2.62512159
80somatic diversification of immune receptors via germline recombination within a single locus (GO:0002.62286010
81somatic cell DNA recombination (GO:0016444)2.62286010
82response to pheromone (GO:0019236)2.61691681
83inner mitochondrial membrane organization (GO:0007007)2.61005759
84telomere maintenance via telomere lengthening (GO:0010833)2.60068824
85negative regulation of DNA recombination (GO:0045910)2.59762118
86CENP-A containing nucleosome assembly (GO:0034080)2.57991891
87chromatin remodeling at centromere (GO:0031055)2.57568874
88negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.57203334
89regulation of T cell receptor signaling pathway (GO:0050856)2.55003916
90negative T cell selection (GO:0043383)2.53787700
91negative regulation of mRNA metabolic process (GO:1903312)2.53644859
92nuclear envelope disassembly (GO:0051081)2.53234554
93membrane disassembly (GO:0030397)2.53234554
94regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.51183279
95negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.51179489
96regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.49137120
97DNA modification (GO:0006304)2.48551425
98peptidyl-histidine modification (GO:0018202)2.47936294
99recombinational repair (GO:0000725)2.46779715
100ribosome assembly (GO:0042255)2.46654834

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse6.00315747
2E2F7_22180533_ChIP-Seq_HELA_Human5.32534456
3E2F4_17652178_ChIP-ChIP_JURKAT_Human3.86300205
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.76618620
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.18354510
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.12364603
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.87131753
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.68898150
9VDR_23849224_ChIP-Seq_CD4+_Human2.68015503
10FOXP3_21729870_ChIP-Seq_TREG_Human2.58144267
11CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.57092361
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.56395685
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.38001515
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.37609924
15ELK1_19687146_ChIP-ChIP_HELA_Human2.37540396
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.35720778
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.34795737
18MYC_18555785_ChIP-Seq_MESCs_Mouse2.29487615
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.16574934
20PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.08618437
21HOXB4_20404135_ChIP-ChIP_EML_Mouse2.04639717
22FOXM1_23109430_ChIP-Seq_U2OS_Human2.00545533
23EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.99549817
24SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.99179904
25FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.97587645
26DCP1A_22483619_ChIP-Seq_HELA_Human1.97230280
27MYC_19030024_ChIP-ChIP_MESCs_Mouse1.97132506
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.92114094
29IGF1R_20145208_ChIP-Seq_DFB_Human1.83230445
30PADI4_21655091_ChIP-ChIP_MCF-7_Human1.81308532
31MYC_18358816_ChIP-ChIP_MESCs_Mouse1.80202632
32POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.77977488
33YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.73419923
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.68781299
35FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.67793398
36MYC_18940864_ChIP-ChIP_HL60_Human1.66757400
37HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.65479804
38GABP_19822575_ChIP-Seq_HepG2_Human1.63872902
39ZNF274_21170338_ChIP-Seq_K562_Hela1.62782238
40CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.61809985
41TTF2_22483619_ChIP-Seq_HELA_Human1.60568949
42ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.59528598
43IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.59018108
44CIITA_25753668_ChIP-Seq_RAJI_Human1.57811724
45NELFA_20434984_ChIP-Seq_ESCs_Mouse1.52567946
46SRF_21415370_ChIP-Seq_HL-1_Mouse1.50965951
47KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.49786633
48MYB_26560356_Chip-Seq_TH2_Human1.47980892
49FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.46933081
50XRN2_22483619_ChIP-Seq_HELA_Human1.46470717
51KDM5A_27292631_Chip-Seq_BREAST_Human1.46406308
52THAP11_20581084_ChIP-Seq_MESCs_Mouse1.46214069
53TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.45201946
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.43331178
55SCL_19346495_ChIP-Seq_HPC-7_Human1.42784095
56E2F1_21310950_ChIP-Seq_MCF-7_Human1.40186994
57MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.37500807
58E2F1_18555785_ChIP-Seq_MESCs_Mouse1.37338926
59MYCN_18555785_ChIP-Seq_MESCs_Mouse1.34931277
60MYC_19079543_ChIP-ChIP_MESCs_Mouse1.33995604
61STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.31885418
62SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.31746951
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.29498642
64YY1_21170310_ChIP-Seq_MESCs_Mouse1.29047411
65VDR_22108803_ChIP-Seq_LS180_Human1.28135537
66ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.26605990
67MYB_26560356_Chip-Seq_TH1_Human1.23580246
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.21947428
69SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.21397423
70EWS_26573619_Chip-Seq_HEK293_Human1.19511895
71SPI1_23547873_ChIP-Seq_NB4_Human1.17316025
72IRF1_19129219_ChIP-ChIP_H3396_Human1.12073751
73PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.11734620
74GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.10657816
75MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.06935864
76E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05378193
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.04958005
78GATA3_26560356_Chip-Seq_TH2_Human1.04463987
79MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.00379563
80RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.98010286
81ELK1_22589737_ChIP-Seq_MCF10A_Human0.96972387
82ZFX_18555785_ChIP-Seq_MESCs_Mouse0.96640446
83GATA3_27048872_Chip-Seq_THYMUS_Human0.96408536
84RUNX_20019798_ChIP-Seq_JUKART_Human0.94787271
85EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.92709035
86POU3F2_20337985_ChIP-ChIP_501MEL_Human0.90237059
87FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.90047799
88NFE2_27457419_Chip-Seq_LIVER_Mouse0.89903188
89SUZ12_27294783_Chip-Seq_NPCs_Mouse0.89820193
90EZH2_27294783_Chip-Seq_NPCs_Mouse0.88030684
91FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85467270
92STAT4_19710469_ChIP-ChIP_TH1__Mouse0.84402852
93PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.84211360
94CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.82307990
95ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.82111850
96IRF8_22096565_ChIP-ChIP_GC-B_Human0.80116970
97HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.78732952
98TFEB_21752829_ChIP-Seq_HELA_Human0.78111023
99* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.77988660
100CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.77217387

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.56591951
2MP0010094_abnormal_chromosome_stability3.91124579
3MP0008877_abnormal_DNA_methylation3.41560062
4MP0003111_abnormal_nucleus_morphology3.34140105
5MP0008995_early_reproductive_senescence3.32634479
6MP0003693_abnormal_embryo_hatching3.25041679
7MP0008058_abnormal_DNA_repair3.13499813
8MP0001873_stomach_inflammation3.11723597
9MP0003763_abnormal_thymus_physiology3.06899015
10MP0003786_premature_aging2.64048439
11MP0004957_abnormal_blastocyst_morpholog2.45730687
12MP0003303_peritoneal_inflammation2.44965701
13MP0005671_abnormal_response_to2.32790029
14MP0003718_maternal_effect2.18398013
15MP0003077_abnormal_cell_cycle2.17340819
16MP0004147_increased_porphyrin_level2.07346576
17MP0002009_preneoplasia1.99800618
18MP0003436_decreased_susceptibility_to1.98413802
19MP0001800_abnormal_humoral_immune1.77652334
20MP0000703_abnormal_thymus_morphology1.68306136
21MP0009785_altered_susceptibility_to1.60733099
22MP0002398_abnormal_bone_marrow1.59826962
23MP0006036_abnormal_mitochondrial_physio1.58039438
24MP0002933_joint_inflammation1.57755166
25MP0005075_abnormal_melanosome_morpholog1.57009448
26MP0000465_gastrointestinal_hemorrhage1.56328216
27MP0002722_abnormal_immune_system1.55404656
28MP0008007_abnormal_cellular_replicative1.50768183
29MP0005387_immune_system_phenotype1.48991300
30MP0001790_abnormal_immune_system1.48991300
31MP0000689_abnormal_spleen_morphology1.48780441
32MP0002420_abnormal_adaptive_immunity1.47523673
33MP0001929_abnormal_gametogenesis1.46685042
34MP0001819_abnormal_immune_cell1.44990853
35MP0002405_respiratory_system_inflammati1.44124887
36MP0002452_abnormal_antigen_presenting1.41130043
37MP0005000_abnormal_immune_tolerance1.40992227
38MP0002102_abnormal_ear_morphology1.39765443
39MP0002160_abnormal_reproductive_system1.36997436
40MP0002723_abnormal_immune_serum1.36995512
41MP0008932_abnormal_embryonic_tissue1.34289104
42MP0002210_abnormal_sex_determination1.30998027
43MP0009333_abnormal_splenocyte_physiolog1.30823206
44MP0001545_abnormal_hematopoietic_system1.30608320
45MP0005397_hematopoietic_system_phenotyp1.30608320
46MP0002396_abnormal_hematopoietic_system1.30143001
47MP0006035_abnormal_mitochondrial_morpho1.28913667
48MP0000716_abnormal_immune_system1.28209669
49MP0005389_reproductive_system_phenotype1.24110840
50MP0003941_abnormal_skin_development1.22175691
51MP0001145_abnormal_male_reproductive1.19379337
52MP0000653_abnormal_sex_gland1.17925988
53MP0002429_abnormal_blood_cell1.17719938
54MP0009697_abnormal_copulation1.16141426
55MP0003646_muscle_fatigue1.15887226
56MP0002019_abnormal_tumor_incidence1.12917526
57MP0002148_abnormal_hypersensitivity_rea1.11499217
58MP0002166_altered_tumor_susceptibility1.08945438
59MP0005025_abnormal_response_to1.05766882
60MP0003656_abnormal_erythrocyte_physiolo1.04015533
61MP0008873_increased_physiological_sensi1.02893247
62MP0001661_extended_life_span1.02733727
63MP0000490_abnormal_crypts_of1.02595216
64MP0008789_abnormal_olfactory_epithelium1.02355707
65MP0005310_abnormal_salivary_gland1.01475036
66MP0000313_abnormal_cell_death1.01293446
67MP0002254_reproductive_system_inflammat1.00880634
68MP0010155_abnormal_intestine_physiology0.98701011
69MP0001119_abnormal_female_reproductive0.96761740
70MP0002095_abnormal_skin_pigmentation0.95560292
71MP0001835_abnormal_antigen_presentation0.95334444
72MP0001730_embryonic_growth_arrest0.94560474
73MP0001853_heart_inflammation0.93170004
74MP0001764_abnormal_homeostasis0.90220197
75MP0002006_tumorigenesis0.87997805
76MP0001845_abnormal_inflammatory_respons0.87369794
77MP0003698_abnormal_male_reproductive0.86038643
78MP0002736_abnormal_nociception_after0.85761416
79MP0003567_abnormal_fetal_cardiomyocyte0.83466776
80MP0001243_abnormal_dermal_layer0.83047604
81MP0000350_abnormal_cell_proliferation0.82342785
82MP0009765_abnormal_xenobiotic_induced0.81351561
83MP0005451_abnormal_body_composition0.80333845
84MP0003943_abnormal_hepatobiliary_system0.79574157
85MP0005499_abnormal_olfactory_system0.78683404
86MP0005394_taste/olfaction_phenotype0.78683404
87MP0002419_abnormal_innate_immunity0.78474904
88MP0001529_abnormal_vocalization0.78102811
89MP0001663_abnormal_digestive_system0.77267772
90MP0000647_abnormal_sebaceous_gland0.76775687
91MP0005266_abnormal_metabolism0.73337793
92MP0003699_abnormal_female_reproductive0.72472424
93MP0002163_abnormal_gland_morphology0.72114170
94MP0002822_catalepsy0.72091108
95MP0001986_abnormal_taste_sensitivity0.71121660
96MP0003121_genomic_imprinting0.69835354
97MP0003806_abnormal_nucleotide_metabolis0.68543699
98MP0001697_abnormal_embryo_size0.67680275
99MP0001533_abnormal_skeleton_physiology0.65873254
100MP0000613_abnormal_salivary_gland0.65669635

Predicted human phenotypes

RankGene SetZ-score
1Aplastic anemia (HP:0001915)4.28513688
2Severe combined immunodeficiency (HP:0004430)3.91474169
3IgM deficiency (HP:0002850)3.77704967
4Combined immunodeficiency (HP:0005387)3.68475828
5Chromosomal breakage induced by crosslinking agents (HP:0003221)3.23717019
6Chromsome breakage (HP:0040012)3.18228067
7Abnormality of chromosome stability (HP:0003220)3.10360712
8Abnormality of the labia minora (HP:0012880)3.07816539
93-Methylglutaconic aciduria (HP:0003535)3.07689932
10B lymphocytopenia (HP:0010976)3.04352833
11Abnormality of B cell number (HP:0010975)2.97254116
12IgG deficiency (HP:0004315)2.91918631
13Increased hepatocellular lipid droplets (HP:0006565)2.82046840
14IgA deficiency (HP:0002720)2.74210417
15Hyperglycinemia (HP:0002154)2.74204608
16Panhypogammaglobulinemia (HP:0003139)2.69351735
17Pancytopenia (HP:0001876)2.68136644
18Lipid accumulation in hepatocytes (HP:0006561)2.66274333
19Long clavicles (HP:0000890)2.56254780
20Granulocytopenia (HP:0001913)2.54897536
21Increased intramyocellular lipid droplets (HP:0012240)2.54263246
22Volvulus (HP:0002580)2.52054666
23Neutropenia (HP:0001875)2.51748296
24T lymphocytopenia (HP:0005403)2.50493731
25Abnormality of eosinophils (HP:0001879)2.48036092
26Chronic mucocutaneous candidiasis (HP:0002728)2.46134379
27Recurrent cutaneous fungal infections (HP:0011370)2.46134379
28Abnormality of lateral ventricle (HP:0030047)2.45877330
29Recurrent fungal infections (HP:0002841)2.45016762
30Birth length less than 3rd percentile (HP:0003561)2.39272406
31Abnormality of the heme biosynthetic pathway (HP:0010472)2.38988881
32Aplasia/Hypoplasia of the uvula (HP:0010293)2.32330095
33Abnormality of T cells (HP:0002843)2.32254776
34Abnormal lung lobation (HP:0002101)2.30476596
35Abnormality of T cell number (HP:0011839)2.28497591
36Autoimmune hemolytic anemia (HP:0001890)2.25204714
37Acute encephalopathy (HP:0006846)2.24488900
38Eosinophilia (HP:0001880)2.23985289
39Limb hypertonia (HP:0002509)2.23862027
40Poor head control (HP:0002421)2.23255659
41Pancreatic islet-cell hyperplasia (HP:0004510)2.21284701
42Leukocytosis (HP:0001974)2.19544560
43Thyroiditis (HP:0100646)2.18186380
44Myelodysplasia (HP:0002863)2.16478362
45Stomatitis (HP:0010280)2.16281029
46Abnormality of the preputium (HP:0100587)2.14843757
47Colon cancer (HP:0003003)2.14098991
48Reticulocytopenia (HP:0001896)2.12512631
49Lymphoma (HP:0002665)2.12163113
50Hyperglycinuria (HP:0003108)2.10575122
51Thrombocytosis (HP:0001894)2.10231640
52Degeneration of anterior horn cells (HP:0002398)2.08192814
53Abnormality of the anterior horn cell (HP:0006802)2.08192814
54Abnormality of the ileum (HP:0001549)2.07455902
55Meckel diverticulum (HP:0002245)2.07411054
56Abnormal number of erythroid precursors (HP:0012131)2.06277337
57Increased CSF lactate (HP:0002490)2.05532085
58Abnormality of T cell physiology (HP:0011840)2.05333313
59Increased muscle lipid content (HP:0009058)2.05295007
60Abnormal spermatogenesis (HP:0008669)2.04755425
61Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.04726002
62Abnormality of alanine metabolism (HP:0010916)2.04726002
63Hyperalaninemia (HP:0003348)2.04726002
64Abnormality of serum amino acid levels (HP:0003112)2.04419914
65Duodenal stenosis (HP:0100867)2.00532001
66Small intestinal stenosis (HP:0012848)2.00532001
67Acute necrotizing encephalopathy (HP:0006965)1.97832038
68Bone marrow hypocellularity (HP:0005528)1.96943290
6911 pairs of ribs (HP:0000878)1.95072167
70Ectopic kidney (HP:0000086)1.91071847
71Recurrent viral infections (HP:0004429)1.90083450
72Respiratory difficulties (HP:0002880)1.89618466
73Abnormal hair whorl (HP:0010721)1.89169045
74Abnormal delayed hypersensitivity skin test (HP:0002963)1.89149033
75Abnormal mitochondria in muscle tissue (HP:0008316)1.88842361
76Lactic acidosis (HP:0003128)1.88794125
77Abnormality of the prostate (HP:0008775)1.87371941
78Cellular immunodeficiency (HP:0005374)1.87160475
79Nephroblastoma (Wilms tumor) (HP:0002667)1.85687830
80Ependymoma (HP:0002888)1.85550306
81Increased serum lactate (HP:0002151)1.83329633
82Clubbing of toes (HP:0100760)1.82678829
83Abnormality of glycine metabolism (HP:0010895)1.82583102
84Abnormality of serine family amino acid metabolism (HP:0010894)1.82583102
85Renal Fanconi syndrome (HP:0001994)1.79851105
86Atrophy/Degeneration involving motor neurons (HP:0007373)1.77482423
87Periodontitis (HP:0000704)1.77330749
88Short tibia (HP:0005736)1.76578011
89Azoospermia (HP:0000027)1.75839437
90Abnormality of cells of the erythroid lineage (HP:0012130)1.75636472
91Premature ovarian failure (HP:0008209)1.72788667
92Pallor (HP:0000980)1.71695397
93Mitochondrial inheritance (HP:0001427)1.71076261
94Microvesicular hepatic steatosis (HP:0001414)1.71072188
95Lymphopenia (HP:0001888)1.70480745
96Abnormality of DNA repair (HP:0003254)1.70016218
97Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.69842048
98Prominent metopic ridge (HP:0005487)1.69725982
99Prominent nose (HP:0000448)1.69161557
100Sloping forehead (HP:0000340)1.68882038

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK24.48558187
2BUB13.75390607
3NUAK13.28813193
4ZAK2.80556255
5ACVR1B2.68928469
6NEK12.66376816
7SRPK12.57667898
8TTK2.57355721
9EIF2AK32.29875379
10TAOK32.25799599
11CDC72.24307370
12CLK12.07149564
13TXK2.03870385
14EIF2AK11.95422677
15MST41.92461652
16PBK1.71601063
17TLK11.64291401
18JAK31.64180051
19VRK11.58322799
20FES1.55887685
21PLK41.54205676
22ATR1.51226768
23PASK1.50306920
24NME21.46852706
25TSSK61.43791107
26TRIM281.38280798
27PLK31.34815565
28MAP4K11.32821958
29VRK21.29354374
30DYRK31.26554380
31SCYL21.24984027
32ERBB31.19811473
33MKNK11.17418347
34CSF1R1.14306729
35MAP4K21.14110914
36CCNB11.13667468
37JAK11.11614155
38PDK21.07607641
39LATS11.06504282
40WNK31.04812557
41STK101.02783898
42BCKDK1.01596501
43TYK21.01498530
44TEC1.01273338
45ATM0.99456096
46KDR0.98163181
47PRKCQ0.95257706
48MAP3K100.94823758
49OXSR10.93658517
50BRSK20.90949627
51EPHA30.90638069
52CHEK10.87808950
53PLK10.87389369
54CHEK20.85359084
55BCR0.84519811
56SYK0.83694398
57TNIK0.75223837
58ITK0.72827170
59RPS6KA50.71952722
60WNK40.69901470
61NLK0.67675996
62HCK0.65948229
63BTK0.65908567
64LCK0.65726910
65NEK20.65057590
66STK390.64748273
67MKNK20.64042355
68CDK30.61233645
69CDK40.60732776
70PIM10.60242620
71WEE10.59762558
72MAP2K60.58900447
73BRAF0.57057977
74MAPK130.56901536
75IKBKE0.56447567
76BMPR1B0.54941517
77AURKB0.53860626
78LYN0.53852710
79RPS6KA40.53072085
80CSNK2A20.52450397
81STK40.50101578
82FGR0.49459582
83CDK20.47316295
84CSNK1G10.46665149
85CSNK2A10.46432825
86RPS6KB20.44394265
87CDK10.41962467
88TIE10.40930814
89STK160.39499134
90STK30.39422950
91CSK0.38721955
92PIK3CA0.37695798
93EPHA40.37266844
94EGFR0.37235411
95CSNK1G30.35640433
96RAF10.35342061
97RPS6KB10.33040999
98IKBKB0.31106015
99JAK20.30636455
100EIF2AK20.30185312

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034304.02851366
2DNA replication_Homo sapiens_hsa030303.88559338
3Homologous recombination_Homo sapiens_hsa034403.67384719
4Primary immunodeficiency_Homo sapiens_hsa053403.41945349
5Proteasome_Homo sapiens_hsa030503.38091888
6Fanconi anemia pathway_Homo sapiens_hsa034603.13663768
7Non-homologous end-joining_Homo sapiens_hsa034502.75827202
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.74418424
9RNA polymerase_Homo sapiens_hsa030202.46827500
10RNA transport_Homo sapiens_hsa030132.38249962
11Spliceosome_Homo sapiens_hsa030402.32568292
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.32175967
13RNA degradation_Homo sapiens_hsa030182.27374580
14Nucleotide excision repair_Homo sapiens_hsa034202.13826840
15Base excision repair_Homo sapiens_hsa034102.11969890
16Cell cycle_Homo sapiens_hsa041101.97772382
17Propanoate metabolism_Homo sapiens_hsa006401.90270681
18Ribosome_Homo sapiens_hsa030101.83420050
19Caffeine metabolism_Homo sapiens_hsa002321.70419200
20Pyrimidine metabolism_Homo sapiens_hsa002401.69616388
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.59132175
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.53777885
23Basal transcription factors_Homo sapiens_hsa030221.53674953
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.52978186
25Parkinsons disease_Homo sapiens_hsa050121.45351250
26SNARE interactions in vesicular transport_Homo sapiens_hsa041301.41798607
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.39950169
28Protein export_Homo sapiens_hsa030601.39880470
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.35642946
30mRNA surveillance pathway_Homo sapiens_hsa030151.28951416
31Oxidative phosphorylation_Homo sapiens_hsa001901.24017910
32Measles_Homo sapiens_hsa051621.13557077
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.13184480
34Selenocompound metabolism_Homo sapiens_hsa004501.11300496
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.09076136
36p53 signaling pathway_Homo sapiens_hsa041151.07453783
37Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.05256116
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04956061
39Purine metabolism_Homo sapiens_hsa002301.02851049
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.00451257
41One carbon pool by folate_Homo sapiens_hsa006701.00129249
42Epstein-Barr virus infection_Homo sapiens_hsa051690.97013299
43NF-kappa B signaling pathway_Homo sapiens_hsa040640.95442769
44RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.89948805
45Huntingtons disease_Homo sapiens_hsa050160.88919306
46T cell receptor signaling pathway_Homo sapiens_hsa046600.87618773
47Herpes simplex infection_Homo sapiens_hsa051680.86549805
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85650704
49Oocyte meiosis_Homo sapiens_hsa041140.85305194
50Hematopoietic cell lineage_Homo sapiens_hsa046400.79189778
51Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.77482575
52Pyruvate metabolism_Homo sapiens_hsa006200.75446977
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75188573
54Fatty acid elongation_Homo sapiens_hsa000620.70150663
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.68607221
56Antigen processing and presentation_Homo sapiens_hsa046120.68071106
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67949853
58Autoimmune thyroid disease_Homo sapiens_hsa053200.66956148
59alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.66761085
60Peroxisome_Homo sapiens_hsa041460.65052662
61Steroid biosynthesis_Homo sapiens_hsa001000.62635812
62Allograft rejection_Homo sapiens_hsa053300.61238330
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.60652562
64Graft-versus-host disease_Homo sapiens_hsa053320.57795638
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.56120109
66Carbon metabolism_Homo sapiens_hsa012000.55325974
67Alzheimers disease_Homo sapiens_hsa050100.54964305
68Transcriptional misregulation in cancer_Homo sapiens_hsa052020.52974820
69Systemic lupus erythematosus_Homo sapiens_hsa053220.52775381
70Jak-STAT signaling pathway_Homo sapiens_hsa046300.52472695
71Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.51568177
72Ether lipid metabolism_Homo sapiens_hsa005650.50527339
73Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50138284
74Viral carcinogenesis_Homo sapiens_hsa052030.48843391
75Linoleic acid metabolism_Homo sapiens_hsa005910.48273652
76Lysine degradation_Homo sapiens_hsa003100.44943021
77Intestinal immune network for IgA production_Homo sapiens_hsa046720.44546524
78Glutathione metabolism_Homo sapiens_hsa004800.44065492
79* Metabolic pathways_Homo sapiens_hsa011000.42142264
80Asthma_Homo sapiens_hsa053100.39155573
81Butanoate metabolism_Homo sapiens_hsa006500.38958327
82N-Glycan biosynthesis_Homo sapiens_hsa005100.36020360
83Apoptosis_Homo sapiens_hsa042100.35957409
84Vitamin digestion and absorption_Homo sapiens_hsa049770.35815293
85Regulation of autophagy_Homo sapiens_hsa041400.33467496
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.32711065
87Legionellosis_Homo sapiens_hsa051340.32427909
88Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29967488
89HTLV-I infection_Homo sapiens_hsa051660.29457124
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.29127216
91Hepatitis B_Homo sapiens_hsa051610.28277229
92Sulfur relay system_Homo sapiens_hsa041220.26771308
93Shigellosis_Homo sapiens_hsa051310.24992465
94Colorectal cancer_Homo sapiens_hsa052100.23239753
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.21607388
96Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.21058443
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.20132405
98Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17585667
99Platelet activation_Homo sapiens_hsa046110.17205956
100Phototransduction_Homo sapiens_hsa047440.16285741

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