PGAM1P6

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
1replication fork processing (GO:0031297)5.51206833
2adenosine metabolic process (GO:0046085)4.15440892
3kinetochore assembly (GO:0051382)4.10728927
4DNA deamination (GO:0045006)3.92106124
5maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.87843621
6kinetochore organization (GO:0051383)3.85084353
7cytidine deamination (GO:0009972)3.65888961
8cytidine metabolic process (GO:0046087)3.65888961
9cytidine catabolic process (GO:0006216)3.65888961
10negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.65524947
11regulation of chronic inflammatory response (GO:0002676)3.63340796
12positive regulation of gamma-delta T cell activation (GO:0046645)3.53921826
13negative regulation of T-helper cell differentiation (GO:0045623)3.53756172
14negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.53756172
15regulation of cellular amino acid metabolic process (GO:0006521)3.52687029
16antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.48449735
17purine nucleobase biosynthetic process (GO:0009113)3.46613415
18negative regulation by host of viral transcription (GO:0043922)3.42655407
19DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.42101543
20DNA replication-dependent nucleosome organization (GO:0034723)3.36868229
21DNA replication-dependent nucleosome assembly (GO:0006335)3.36868229
22mast cell degranulation (GO:0043303)3.36465057
23mast cell activation involved in immune response (GO:0002279)3.36465057
24signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.35508532
25signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.35508532
26signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.35508532
27positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.35275060
28intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.34361156
29signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.34361156
30negative regulation of phagocytosis (GO:0050765)3.32667559
31regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.29575674
32eosinophil chemotaxis (GO:0048245)3.26064306
33negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.24369597
34negative regulation of ligase activity (GO:0051352)3.24369597
35anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.24010209
36nucleobase biosynthetic process (GO:0046112)3.20875581
37antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.20318912
38signal transduction involved in DNA integrity checkpoint (GO:0072401)3.19275079
39signal transduction involved in DNA damage checkpoint (GO:0072422)3.19275079
40negative regulation of DNA recombination (GO:0045910)3.15311983
41signal transduction involved in cell cycle checkpoint (GO:0072395)3.13943673
42innate immune response in mucosa (GO:0002227)3.13854382
43positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.13652246
44CENP-A containing nucleosome assembly (GO:0034080)3.12601632
45regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.10237797
46protein localization to kinetochore (GO:0034501)3.07363134
47viral mRNA export from host cell nucleus (GO:0046784)3.05833227
48macrophage chemotaxis (GO:0048246)3.05256491
49positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.04309973
50pyrimidine ribonucleoside catabolic process (GO:0046133)3.04001912
51tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.02842157
52RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.02842157
53protein K6-linked ubiquitination (GO:0085020)3.02782786
54positive regulation of ligase activity (GO:0051351)2.99941738
55Arp2/3 complex-mediated actin nucleation (GO:0034314)2.95799850
56chromatin remodeling at centromere (GO:0031055)2.94410673
57negative regulation of nitric oxide biosynthetic process (GO:0045019)2.93747607
58regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.92055290
59eosinophil migration (GO:0072677)2.91517009
60response to UV-C (GO:0010225)2.91468165
61DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.90228470
62DNA replication checkpoint (GO:0000076)2.89452936
63meiotic chromosome segregation (GO:0045132)2.89326731
64CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.88669020
65DNA replication initiation (GO:0006270)2.86962208
66mannosylation (GO:0097502)2.83799625
67positive regulation of interleukin-8 secretion (GO:2000484)2.83661043
68positive regulation of cell cycle arrest (GO:0071158)2.82642127
69DNA demethylation (GO:0080111)2.78619921
70DNA strand renaturation (GO:0000733)2.76220551
71positive regulation of granulocyte differentiation (GO:0030854)2.75753149
72negative regulation of B cell apoptotic process (GO:0002903)2.75289667
73negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.74044936
74positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.73485280
75protein complex biogenesis (GO:0070271)2.72176582
76histone exchange (GO:0043486)2.70007822
77mismatch repair (GO:0006298)2.69647463
78positive regulation of defense response to virus by host (GO:0002230)2.68462397
79DNA dealkylation (GO:0035510)2.68434012
80positive regulation of natural killer cell mediated immunity (GO:0002717)2.67897105
81regulation of ubiquitin-protein transferase activity (GO:0051438)2.66974309
82regulation of MHC class II biosynthetic process (GO:0045346)2.66959938
83positive regulation of leukocyte mediated cytotoxicity (GO:0001912)2.66954984
84positive regulation of B cell differentiation (GO:0045579)2.65554755
85GPI anchor metabolic process (GO:0006505)2.64784497
86negative regulation of phosphoprotein phosphatase activity (GO:0032515)2.63801170
87cytolysis (GO:0019835)2.63333943
88telomere maintenance via semi-conservative replication (GO:0032201)2.62639823
89antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.62105666
90negative regulation of DNA-dependent DNA replication (GO:2000104)2.61485009
91actin nucleation (GO:0045010)2.60826557
92mitochondrial respiratory chain complex assembly (GO:0033108)2.60538629
93chaperone-mediated protein transport (GO:0072321)2.59675151
94regulation of ligase activity (GO:0051340)2.57495182
95DNA strand elongation involved in DNA replication (GO:0006271)2.56583490
96positive regulation of cell killing (GO:0031343)2.55393938
97negative regulation of protein acetylation (GO:1901984)2.54785850
98mitochondrial respiratory chain complex I assembly (GO:0032981)2.54780377
99NADH dehydrogenase complex assembly (GO:0010257)2.54780377
100mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.54780377

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.43820211
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.41250970
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.12987478
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.25325800
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.10661055
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.08779750
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.03272165
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.85743185
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.80596680
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.53565992
11IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.33897405
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.28314270
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.21790263
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.09702419
15VDR_23849224_ChIP-Seq_CD4+_Human2.08764801
16SRF_21415370_ChIP-Seq_HL-1_Mouse2.07400515
17SALL1_21062744_ChIP-ChIP_HESCs_Human2.05421719
18IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.05340396
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.00072461
20HTT_18923047_ChIP-ChIP_STHdh_Human1.96986214
21MYB_26560356_Chip-Seq_TH2_Human1.94703662
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.89854630
23ELK1_19687146_ChIP-ChIP_HELA_Human1.85457471
24CREB1_15753290_ChIP-ChIP_HEK293T_Human1.81904572
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.81118598
26JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.78722817
27STAT4_19710469_ChIP-ChIP_TH1__Mouse1.72885757
28IRF8_21731497_ChIP-ChIP_J774_Mouse1.66286058
29EGR1_23403033_ChIP-Seq_LIVER_Mouse1.60491180
30FOXM1_23109430_ChIP-Seq_U2OS_Human1.59597170
31SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.59501311
32NOTCH1_21737748_ChIP-Seq_TLL_Human1.57282317
33STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.53295618
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.52195635
35FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.51140944
36ER_23166858_ChIP-Seq_MCF-7_Human1.50424109
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49674441
38GATA3_26560356_Chip-Seq_TH2_Human1.49279223
39IRF1_19129219_ChIP-ChIP_H3396_Human1.49155486
40VDR_22108803_ChIP-Seq_LS180_Human1.48695622
41GATA3_27048872_Chip-Seq_THYMUS_Human1.43633840
42TAF15_26573619_Chip-Seq_HEK293_Human1.43326750
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.43191893
44CIITA_25753668_ChIP-Seq_RAJI_Human1.42780365
45ETS1_20019798_ChIP-Seq_JURKAT_Human1.40261155
46POU3F2_20337985_ChIP-ChIP_501MEL_Human1.38430349
47MYB_26560356_Chip-Seq_TH1_Human1.34996773
48PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.34838736
49FOXP3_21729870_ChIP-Seq_TREG_Human1.28220629
50PADI4_21655091_ChIP-ChIP_MCF-7_Human1.28123839
51RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.26756518
52CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.24680467
53RBPJ_21746931_ChIP-Seq_IB4_Human1.22743932
54FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.20919682
55DCP1A_22483619_ChIP-Seq_HELA_Human1.19685791
56EWS_26573619_Chip-Seq_HEK293_Human1.19540071
57ETV1_20927104_ChIP-Seq_GIST48_Human1.17978675
58ZNF274_21170338_ChIP-Seq_K562_Hela1.17846583
59GATA6_21074721_ChIP-Seq_CACO-2_Human1.16920187
60LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15186223
61PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.13677335
62PHF8_20622853_ChIP-Seq_HELA_Human1.13546046
63RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.13214891
64GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.13097897
65E2F1_21310950_ChIP-Seq_MCF-7_Human1.13040162
66SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.12811263
67HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.12696406
68MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.12551874
69SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.11179467
70POU5F1_16153702_ChIP-ChIP_HESCs_Human1.09841231
71MYC_18940864_ChIP-ChIP_HL60_Human1.07695682
72CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.06881421
73CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02688207
74NFYB_21822215_ChIP-Seq_K562_Human1.02307231
75FLI1_27457419_Chip-Seq_LIVER_Mouse0.99566142
76HNFA_21074721_ChIP-Seq_CACO-2_Human0.97721073
77SALL4_22934838_ChIP-ChIP_CD34+_Human0.97528841
78MYC_19030024_ChIP-ChIP_MESCs_Mouse0.96034218
79PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.95256559
80TP53_22573176_ChIP-Seq_HFKS_Human0.93870493
81FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.90929059
82POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.90748379
83CBX2_22325352_ChIP-Seq_293T-Rex_Human0.90647149
84TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.88364853
85LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.87616111
86LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.86093592
87PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.85850415
88GABP_19822575_ChIP-Seq_HepG2_Human0.84427646
89CBP_20019798_ChIP-Seq_JUKART_Human0.83700394
90IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.83700394
91PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83615022
92THAP11_20581084_ChIP-Seq_MESCs_Mouse0.83424997
93MYC_18358816_ChIP-ChIP_MESCs_Mouse0.83301772
94GATA3_21878914_ChIP-Seq_MCF-7_Human0.83051685
95SPI1_23547873_ChIP-Seq_NB4_Human0.82619023
96GATA3_26560356_Chip-Seq_TH1_Human0.82173229
97MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.81088876
98NFYA_21822215_ChIP-Seq_K562_Human0.80874237
99VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.80817830
100YY1_21170310_ChIP-Seq_MESCs_Mouse0.80405826

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.25454612
2MP0005671_abnormal_response_to3.24542790
3MP0003786_premature_aging3.19036784
4MP0008057_abnormal_DNA_replication3.17673116
5MP0010094_abnormal_chromosome_stability3.05283176
6MP0002166_altered_tumor_susceptibility3.04522158
7MP0005075_abnormal_melanosome_morpholog3.01693904
8MP0008875_abnormal_xenobiotic_pharmacok3.00724396
9MP0003195_calcinosis2.87747211
10MP0001853_heart_inflammation2.54064133
11MP0003183_abnormal_peptide_metabolism2.50468619
12MP0004147_increased_porphyrin_level2.46606137
13MP0000569_abnormal_digit_pigmentation2.44018553
14MP0001873_stomach_inflammation2.41129919
15MP0008058_abnormal_DNA_repair2.37001471
16MP0002138_abnormal_hepatobiliary_system2.34502013
17MP0002006_tumorigenesis2.30337553
18MP0006082_CNS_inflammation2.25115629
19MP0003763_abnormal_thymus_physiology2.16309123
20MP0009785_altered_susceptibility_to2.14430131
21MP0003111_abnormal_nucleus_morphology2.11741436
22MP0008995_early_reproductive_senescence2.11700482
23MP0002277_abnormal_respiratory_mucosa2.04170974
24MP0004381_abnormal_hair_follicle2.03366647
25MP0009333_abnormal_splenocyte_physiolog2.02953486
26MP0002163_abnormal_gland_morphology1.93591218
27MP0004957_abnormal_blastocyst_morpholog1.90914131
28MP0001800_abnormal_humoral_immune1.87272302
29MP0005000_abnormal_immune_tolerance1.78532265
30MP0003693_abnormal_embryo_hatching1.76460085
31MP0000372_irregular_coat_pigmentation1.72696517
32MP0008872_abnormal_physiological_respon1.71247497
33MP0002638_abnormal_pupillary_reflex1.67898879
34MP0002420_abnormal_adaptive_immunity1.63238848
35MP0000685_abnormal_immune_system1.60708470
36MP0002095_abnormal_skin_pigmentation1.58570793
37MP0001819_abnormal_immune_cell1.57940696
38MP0005025_abnormal_response_to1.51705233
39MP0002723_abnormal_immune_serum1.45632743
40MP0002398_abnormal_bone_marrow1.44539520
41MP0003077_abnormal_cell_cycle1.38874437
42MP0002452_abnormal_antigen_presenting1.35268313
43MP0005174_abnormal_tail_pigmentation1.33314233
44MP0006276_abnormal_autonomic_nervous1.32306588
45MP0002148_abnormal_hypersensitivity_rea1.31243691
46MP0000716_abnormal_immune_system1.29242836
47MP0003866_abnormal_defecation1.28677860
48MP0000703_abnormal_thymus_morphology1.26492098
49MP0003172_abnormal_lysosome_physiology1.25658895
50MP0002722_abnormal_immune_system1.22297587
51MP0002102_abnormal_ear_morphology1.21942125
52MP0004043_abnormal_pH_regulation1.19972748
53MP0000015_abnormal_ear_pigmentation1.18695803
54MP0000689_abnormal_spleen_morphology1.18576827
55MP0002019_abnormal_tumor_incidence1.15708009
56MP0005389_reproductive_system_phenotype1.13721778
57MP0001502_abnormal_circadian_rhythm1.12843897
58MP0001348_abnormal_lacrimal_gland1.12612048
59MP0001119_abnormal_female_reproductive1.10805772
60MP0002429_abnormal_blood_cell1.10752320
61MP0005310_abnormal_salivary_gland1.10476136
62MP0001790_abnormal_immune_system1.09634043
63MP0005387_immune_system_phenotype1.09634043
64MP0010307_abnormal_tumor_latency1.08323585
65MP0001919_abnormal_reproductive_system1.08274545
66MP0009765_abnormal_xenobiotic_induced1.05645568
67MP0008007_abnormal_cellular_replicative1.04856883
68MP0002210_abnormal_sex_determination1.02471383
69MP0008873_increased_physiological_sensi0.99557975
70MP0008877_abnormal_DNA_methylation0.99134068
71MP0005464_abnormal_platelet_physiology0.96974559
72MP0000313_abnormal_cell_death0.96370408
73MP0002419_abnormal_innate_immunity0.96331309
74MP0002736_abnormal_nociception_after0.95629130
75MP0005551_abnormal_eye_electrophysiolog0.94571831
76MP0005647_abnormal_sex_gland0.93543401
77MP0001929_abnormal_gametogenesis0.89794195
78MP0009764_decreased_sensitivity_to0.89154959
79MP0001243_abnormal_dermal_layer0.88825374
80MP0008932_abnormal_embryonic_tissue0.86816476
81MP0005379_endocrine/exocrine_gland_phen0.86454520
82MP0002405_respiratory_system_inflammati0.85985385
83MP0003787_abnormal_imprinting0.85978137
84MP0001542_abnormal_bone_strength0.84086093
85MP0002254_reproductive_system_inflammat0.82196145
86MP0003718_maternal_effect0.80750023
87MP0005360_urolithiasis0.80253662
88MP0000653_abnormal_sex_gland0.79684823
89MP0001845_abnormal_inflammatory_respons0.79327124
90MP0009763_increased_sensitivity_to0.78392986
91MP0001145_abnormal_male_reproductive0.78097624
92MP0003646_muscle_fatigue0.76437914
93MP0003252_abnormal_bile_duct0.75379456
94MP0001188_hyperpigmentation0.72756176
95MP0000427_abnormal_hair_cycle0.71641922
96MP0003186_abnormal_redox_activity0.70557230
97MP0001968_abnormal_touch/_nociception0.70467592
98MP0002933_joint_inflammation0.70142019
99MP0002160_abnormal_reproductive_system0.68393086
100MP0002234_abnormal_pharynx_morphology0.68070126

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)5.60662951
2Chromsome breakage (HP:0040012)5.06423628
3Elevated erythrocyte sedimentation rate (HP:0003565)4.41759840
4Abnormality of the prostate (HP:0008775)3.67831025
5Aplasia/Hypoplasia of the uvula (HP:0010293)3.55897448
6Clubbing of toes (HP:0100760)3.51273805
7Meckel diverticulum (HP:0002245)3.44969088
8Abnormality of the ileum (HP:0001549)3.39684695
9T lymphocytopenia (HP:0005403)3.37529676
10Abnormality of T cell number (HP:0011839)3.34742738
11Hyperalaninemia (HP:0003348)3.33381529
12Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.33381529
13Abnormality of alanine metabolism (HP:0010916)3.33381529
14Severe visual impairment (HP:0001141)3.25169159
15Carpal bone hypoplasia (HP:0001498)3.10397450
16Abnormality of chromosome stability (HP:0003220)3.09498261
17Abnormality of B cell number (HP:0010975)3.07780043
18B lymphocytopenia (HP:0010976)2.94048479
19Abnormality of the preputium (HP:0100587)2.92042165
20IgG deficiency (HP:0004315)2.89922696
21Recurrent bronchitis (HP:0002837)2.80842904
22Abnormality of T cells (HP:0002843)2.74785158
23Duodenal stenosis (HP:0100867)2.71015350
24Small intestinal stenosis (HP:0012848)2.71015350
25Hypoplasia of the pons (HP:0012110)2.68954945
26Obstructive lung disease (HP:0006536)2.58493950
27Chronic obstructive pulmonary disease (HP:0006510)2.58493950
28Abnormality of the pons (HP:0007361)2.57073097
29Colon cancer (HP:0003003)2.46085766
30Increased hepatocellular lipid droplets (HP:0006565)2.45841772
31Lipid accumulation in hepatocytes (HP:0006561)2.43128631
32Pulmonary fibrosis (HP:0002206)2.38921483
33Neoplasm of the small intestine (HP:0100833)2.35982136
34Increased intramyocellular lipid droplets (HP:0012240)2.30820394
35Eosinophilia (HP:0001880)2.30792715
36Duplicated collecting system (HP:0000081)2.30537532
37Large eyes (HP:0001090)2.28052281
38Chest pain (HP:0100749)2.26545158
39Abnormality of the duodenum (HP:0002246)2.26330072
40Abnormality of the renal collecting system (HP:0004742)2.24321894
41Mediastinal lymphadenopathy (HP:0100721)2.21382698
42Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.20521645
43Abnormality of male internal genitalia (HP:0000022)2.17435343
44Abnormal delayed hypersensitivity skin test (HP:0002963)2.17175962
45Mitochondrial inheritance (HP:0001427)2.13767215
46Pulmonary infiltrates (HP:0002113)2.12992254
47Abnormality of T cell physiology (HP:0011840)2.12420213
48Decreased activity of mitochondrial respiratory chain (HP:0008972)2.07002105
49Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.07002105
50Abnormality of pyrimidine metabolism (HP:0004353)2.06915272
51Anomalous pulmonary venous return (HP:0010772)2.04599407
52Gangrene (HP:0100758)2.03410688
53Hypoproteinemia (HP:0003075)2.03279116
54Decreased electroretinogram (ERG) amplitude (HP:0000654)2.00365917
55Myositis (HP:0100614)1.99952211
56Increased muscle lipid content (HP:0009058)1.99716518
57Abolished electroretinogram (ERG) (HP:0000550)1.99301919
58Renal Fanconi syndrome (HP:0001994)1.98151098
59Ovarian neoplasm (HP:0100615)1.97403715
60Albinism (HP:0001022)1.96420231
61Increased CSF lactate (HP:0002490)1.95649156
62Severe global developmental delay (HP:0011344)1.95414634
63Increased serum lactate (HP:0002151)1.95344125
64Encephalitis (HP:0002383)1.94595187
65Type I transferrin isoform profile (HP:0003642)1.94409714
66Ureteral stenosis (HP:0000071)1.93470724
67IgM deficiency (HP:0002850)1.93403734
68Increased IgM level (HP:0003496)1.93320949
69Abnormality of eosinophils (HP:0001879)1.92816933
70Birth length less than 3rd percentile (HP:0003561)1.92518519
71Abnormality of serum amino acid levels (HP:0003112)1.92390824
72Combined immunodeficiency (HP:0005387)1.92349201
73Ureteral obstruction (HP:0006000)1.91503494
74Autoimmune hemolytic anemia (HP:0001890)1.90854698
75Myelodysplasia (HP:0002863)1.90795918
76Attenuation of retinal blood vessels (HP:0007843)1.90785552
77Absent forearm bone (HP:0003953)1.88194661
78Aplasia involving forearm bones (HP:0009822)1.88194661
793-Methylglutaconic aciduria (HP:0003535)1.88026635
80Weight loss (HP:0001824)1.87139418
81Fair hair (HP:0002286)1.85092319
82Abnormal rod and cone electroretinograms (HP:0008323)1.82916806
83Hemoptysis (HP:0002105)1.82690302
84Pili torti (HP:0003777)1.81073045
85Optic neuritis (HP:0100653)1.77509815
86Retrobulbar optic neuritis (HP:0100654)1.77509815
87Granulocytopenia (HP:0001913)1.77441788
88Progressive microcephaly (HP:0000253)1.77352446
89Abnormality of the carotid arteries (HP:0005344)1.76242115
90Absent radius (HP:0003974)1.75956052
91Severe combined immunodeficiency (HP:0004430)1.75939059
92Absent thumb (HP:0009777)1.75403043
93Meningitis (HP:0001287)1.74903925
94Abnormality of the peritoneum (HP:0002585)1.74204628
95Abnormality of the pleura (HP:0002103)1.74156702
96Rhabdomyosarcoma (HP:0002859)1.72729302
97Abnormal protein glycosylation (HP:0012346)1.72564120
98Abnormal glycosylation (HP:0012345)1.72564120
99Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.72564120
100Abnormal protein N-linked glycosylation (HP:0012347)1.72564120

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR4.30348044
2KDR3.27557267
3EIF2AK13.17841276
4TESK22.90411699
5ZAK2.84326744
6NUAK12.83488397
7TXK2.82820964
8PBK2.78048769
9VRK22.58700142
10CDC72.27385011
11MAP4K22.26423332
12VRK12.22330595
13TLK12.17103214
14PDK22.12569170
15BUB12.11824874
16TAOK32.03567030
17CLK11.99613891
18BRSK21.65090085
19ADRBK21.57967716
20FRK1.55199931
21MST41.39738230
22TNIK1.38549063
23RPS6KA41.36336213
24BCKDK1.34512043
25EIF2AK31.33895488
26BLK1.25856601
27TNK21.23970216
28MAP4K11.20481219
29PLK41.14476033
30AKT31.13609474
31ATR1.12274738
32MAP3K121.11620334
33RPS6KA51.10774099
34TEC1.09278014
35MATK1.09223002
36BMPR1B1.07062234
37CHEK21.06753864
38TTK1.05905556
39NLK1.05735943
40WEE11.00465063
41IKBKE0.97158911
42MAP3K140.96349199
43MAPKAPK30.95625876
44NME10.95578729
45SRPK10.94723546
46ITK0.94545396
47EIF2AK20.93337262
48DAPK10.87343697
49PRKCQ0.86516578
50TESK10.85649502
51STK40.84215540
52SYK0.84078043
53PLK30.79998700
54BRAF0.78903880
55AURKB0.77394670
56SGK20.75615137
57CSNK1G10.70903819
58PLK10.68530738
59MAPK130.67462785
60GRK60.65304602
61LIMK10.64794397
62CSNK1G30.64379107
63RAF10.61476020
64STK38L0.61165988
65NEK10.58255309
66CCNB10.56600067
67ARAF0.54544266
68CSNK1A1L0.53826875
69IKBKB0.53743901
70MAP3K110.52566553
71GRK70.50391549
72GRK50.48696695
73CDK30.48591164
74MKNK10.48162802
75CSK0.47888131
76MKNK20.47542519
77ADRBK10.45999423
78TSSK60.45707936
79ATM0.44865153
80DYRK30.44735937
81IRAK40.44660032
82CHUK0.44641940
83LCK0.42463423
84AURKA0.40941116
85IRAK10.39533951
86MAP3K130.39194716
87SGK4940.39025807
88SGK2230.39025807
89TRIM280.38586976
90WNK30.38580112
91GRK10.38119386
92PAK10.37348596
93PIM10.36083337
94ERBB20.35966301
95WNK40.34696259
96OXSR10.34224555
97CAMK1D0.34203799
98DYRK1A0.34143651
99PRKCI0.32971760
100TBK10.32873146

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030505.05856225
2Primary immunodeficiency_Homo sapiens_hsa053403.94498629
3DNA replication_Homo sapiens_hsa030303.14301959
4Homologous recombination_Homo sapiens_hsa034403.11402447
5Fanconi anemia pathway_Homo sapiens_hsa034602.74706959
6Systemic lupus erythematosus_Homo sapiens_hsa053222.62658556
7Autoimmune thyroid disease_Homo sapiens_hsa053202.58097408
8Allograft rejection_Homo sapiens_hsa053302.47668841
9Oxidative phosphorylation_Homo sapiens_hsa001902.30184958
10RNA polymerase_Homo sapiens_hsa030202.10791346
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.10025099
12Parkinsons disease_Homo sapiens_hsa050122.07615670
13Mismatch repair_Homo sapiens_hsa034302.03910287
14Antigen processing and presentation_Homo sapiens_hsa046121.95742599
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.94656989
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.88774554
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.85843811
18Graft-versus-host disease_Homo sapiens_hsa053321.71474329
19Asthma_Homo sapiens_hsa053101.71408688
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.59329350
21Hematopoietic cell lineage_Homo sapiens_hsa046401.58065198
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.56141773
23T cell receptor signaling pathway_Homo sapiens_hsa046601.54533464
24One carbon pool by folate_Homo sapiens_hsa006701.53346641
25Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.50414539
26Base excision repair_Homo sapiens_hsa034101.47800797
27Alcoholism_Homo sapiens_hsa050341.47615414
28Non-homologous end-joining_Homo sapiens_hsa034501.43336817
29Huntingtons disease_Homo sapiens_hsa050161.41348473
30Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.34803638
31Caffeine metabolism_Homo sapiens_hsa002321.32553368
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.25707956
33Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.22569453
34Spliceosome_Homo sapiens_hsa030401.22333640
35Cyanoamino acid metabolism_Homo sapiens_hsa004601.14867564
36Pyrimidine metabolism_Homo sapiens_hsa002401.12052640
37Alzheimers disease_Homo sapiens_hsa050101.11687782
38Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.03801237
39Viral carcinogenesis_Homo sapiens_hsa052031.02366356
40Measles_Homo sapiens_hsa051621.01231897
41Cell cycle_Homo sapiens_hsa041100.98620605
42RNA transport_Homo sapiens_hsa030130.95730798
43Vitamin B6 metabolism_Homo sapiens_hsa007500.95308352
44Pyruvate metabolism_Homo sapiens_hsa006200.94923457
45p53 signaling pathway_Homo sapiens_hsa041150.93842348
46Steroid hormone biosynthesis_Homo sapiens_hsa001400.92348847
47Nucleotide excision repair_Homo sapiens_hsa034200.89707405
48RNA degradation_Homo sapiens_hsa030180.88914895
49Primary bile acid biosynthesis_Homo sapiens_hsa001200.88081030
50NF-kappa B signaling pathway_Homo sapiens_hsa040640.85138888
51Butanoate metabolism_Homo sapiens_hsa006500.83888398
52Phototransduction_Homo sapiens_hsa047440.83807543
53Purine metabolism_Homo sapiens_hsa002300.81986965
54Propanoate metabolism_Homo sapiens_hsa006400.79780243
55Rheumatoid arthritis_Homo sapiens_hsa053230.77718881
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.77452934
57Type I diabetes mellitus_Homo sapiens_hsa049400.73591184
58Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.71921777
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.71539140
60Nitrogen metabolism_Homo sapiens_hsa009100.68642572
61Steroid biosynthesis_Homo sapiens_hsa001000.68220223
62Oocyte meiosis_Homo sapiens_hsa041140.68113290
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.67499515
64Cardiac muscle contraction_Homo sapiens_hsa042600.67465729
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65884561
66SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61573111
67Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61203170
68Peroxisome_Homo sapiens_hsa041460.60512881
69Protein export_Homo sapiens_hsa030600.60415798
70Fatty acid elongation_Homo sapiens_hsa000620.57388905
71Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55990145
72Retinol metabolism_Homo sapiens_hsa008300.54018236
73Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51467532
74Shigellosis_Homo sapiens_hsa051310.46836109
75Chemical carcinogenesis_Homo sapiens_hsa052040.46432592
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45819673
77Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44856585
78Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.44665305
79Basal transcription factors_Homo sapiens_hsa030220.43931795
80Staphylococcus aureus infection_Homo sapiens_hsa051500.43155392
81Olfactory transduction_Homo sapiens_hsa047400.43000204
82Transcriptional misregulation in cancer_Homo sapiens_hsa052020.42133830
83Selenocompound metabolism_Homo sapiens_hsa004500.42032580
84Metabolic pathways_Homo sapiens_hsa011000.41084805
85Herpes simplex infection_Homo sapiens_hsa051680.37031179
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36119464
87NOD-like receptor signaling pathway_Homo sapiens_hsa046210.35398780
88RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.35268406
89Jak-STAT signaling pathway_Homo sapiens_hsa046300.34528912
90Taste transduction_Homo sapiens_hsa047420.33943310
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33718050
92Epstein-Barr virus infection_Homo sapiens_hsa051690.32373498
93Cysteine and methionine metabolism_Homo sapiens_hsa002700.32244348
94Ribosome_Homo sapiens_hsa030100.29895221
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29254159
96Linoleic acid metabolism_Homo sapiens_hsa005910.28876349
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.26189313
98Leishmaniasis_Homo sapiens_hsa051400.25951721
99Malaria_Homo sapiens_hsa051440.23948005
100HTLV-I infection_Homo sapiens_hsa051660.21798892

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