PGM1

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: The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)9.39758068
2muscle filament sliding (GO:0030049)9.39758068
3actin-mediated cell contraction (GO:0070252)7.87665912
4sarcoplasmic reticulum calcium ion transport (GO:0070296)7.79389995
5regulation of skeletal muscle contraction (GO:0014819)6.88792539
6skeletal muscle contraction (GO:0003009)6.76161144
7NADH metabolic process (GO:0006734)6.28957922
8creatine metabolic process (GO:0006600)6.13898759
9regulation of relaxation of muscle (GO:1901077)5.93012858
10actin filament-based movement (GO:0030048)5.91070758
11myofibril assembly (GO:0030239)5.73399321
12sarcomere organization (GO:0045214)5.69332287
13positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.65891265
14response to muscle activity (GO:0014850)5.52299424
15response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.47645147
16striated muscle contraction (GO:0006941)5.41118135
17regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.86441810
18cardiac myofibril assembly (GO:0055003)4.82060560
19skeletal muscle fiber development (GO:0048741)4.63870949
20tricarboxylic acid cycle (GO:0006099)4.57458447
21* glycogen catabolic process (GO:0005980)4.44891557
22* gluconeogenesis (GO:0006094)4.43041250
23cardiac muscle contraction (GO:0060048)4.42035938
24oxaloacetate metabolic process (GO:0006107)4.39445524
25fructose metabolic process (GO:0006000)4.38790207
26actomyosin structure organization (GO:0031032)4.37462107
27muscle contraction (GO:0006936)4.33333910
28regulation of actin filament-based movement (GO:1903115)4.18211074
29myotube cell development (GO:0014904)4.17727738
30plasma membrane repair (GO:0001778)4.16956023
31* glucan catabolic process (GO:0009251)4.14964981
32response to inactivity (GO:0014854)4.10772433
33* hexose biosynthetic process (GO:0019319)4.05401550
34skeletal muscle adaptation (GO:0043501)4.05158557
352-oxoglutarate metabolic process (GO:0006103)4.04869937
36regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.04867667
37carnitine shuttle (GO:0006853)3.99641818
38ribosomal small subunit assembly (GO:0000028)3.98296450
39regulation of cell communication by electrical coupling (GO:0010649)3.92885662
40* cellular polysaccharide catabolic process (GO:0044247)3.87556625
41cardiac muscle hypertrophy (GO:0003300)3.84554843
42* glucan biosynthetic process (GO:0009250)3.82397493
43* glycogen biosynthetic process (GO:0005978)3.82397493
44muscle system process (GO:0003012)3.82311327
45regulation of sequestering of triglyceride (GO:0010889)3.78934687
46striated muscle hypertrophy (GO:0014897)3.72327807
47* monosaccharide biosynthetic process (GO:0046364)3.65652746
48muscle cell cellular homeostasis (GO:0046716)3.63373524
49negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.60973117
50fatty acid transmembrane transport (GO:1902001)3.59113553
51fatty acid homeostasis (GO:0055089)3.46945468
52tricarboxylic acid metabolic process (GO:0072350)3.45412084
53skeletal muscle tissue development (GO:0007519)3.44515080
54DNA unwinding involved in DNA replication (GO:0006268)3.42195152
55* polysaccharide catabolic process (GO:0000272)3.41374585
56muscle fiber development (GO:0048747)3.41264372
57striated muscle adaptation (GO:0014888)3.36993636
58* glycogen metabolic process (GO:0005977)3.35151080
59response to mercury ion (GO:0046689)3.34580716
60viral transcription (GO:0019083)3.33012978
61muscle tissue morphogenesis (GO:0060415)3.32920342
62formation of translation preinitiation complex (GO:0001731)3.32424965
63muscle hypertrophy (GO:0014896)3.30369145
64cardiac muscle tissue morphogenesis (GO:0055008)3.28251012
65* glucan metabolic process (GO:0044042)3.27880947
66* cellular glucan metabolic process (GO:0006073)3.27880947
67maturation of SSU-rRNA (GO:0030490)3.27704923
68translational termination (GO:0006415)3.21104957
69DNA strand elongation involved in DNA replication (GO:0006271)3.17927804
70telomere maintenance via semi-conservative replication (GO:0032201)3.16550276
71fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.14257659
72muscle cell fate commitment (GO:0042693)3.12373734
73DNA replication initiation (GO:0006270)3.11221493
74nucleobase biosynthetic process (GO:0046112)3.11192060
75regulation of the force of heart contraction (GO:0002026)3.10512806
76regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.08536744
77SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.07730810
78DNA deamination (GO:0045006)3.05511169
79regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.04976425
80positive regulation of myotube differentiation (GO:0010831)3.04488151
81* glycolytic process (GO:0006096)3.04318320
82DNA strand elongation (GO:0022616)3.03255731
83Arp2/3 complex-mediated actin nucleation (GO:0034314)3.01637130
84positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.00143752
85positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.00044412
86protein localization to kinetochore (GO:0034501)2.99841104
87negative regulation of potassium ion transmembrane transport (GO:1901380)2.99415394
88succinate metabolic process (GO:0006105)2.99233399
894-hydroxyproline metabolic process (GO:0019471)2.98037673
90mitotic nuclear envelope disassembly (GO:0007077)2.97656718
91protein targeting to ER (GO:0045047)2.97397135
92cotranslational protein targeting to membrane (GO:0006613)2.96049275
93regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.95527330
94adult heart development (GO:0007512)2.95335533
95carnitine transmembrane transport (GO:1902603)2.94955455
96regulation of striated muscle contraction (GO:0006942)2.93406325
97ribosomal small subunit biogenesis (GO:0042274)2.92196955
98folic acid-containing compound biosynthetic process (GO:0009396)2.91519712
99translational elongation (GO:0006414)2.91050954
100erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.90857729
101L-phenylalanine metabolic process (GO:0006558)2.90857729
102skeletal muscle tissue regeneration (GO:0043403)2.90694151
103cardiac muscle adaptation (GO:0014887)2.90207777
104cardiac muscle hypertrophy in response to stress (GO:0014898)2.90207777
105muscle hypertrophy in response to stress (GO:0003299)2.90207777
106response to activity (GO:0014823)2.89867707
107cardiac muscle cell development (GO:0055013)2.89129148
108purine nucleobase biosynthetic process (GO:0009113)2.86986516
109negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.85041639
110* glucose metabolic process (GO:0006006)2.84426044
111regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.83670710
112striated muscle cell development (GO:0055002)2.83121401
113translational initiation (GO:0006413)2.81294507
114establishment of protein localization to endoplasmic reticulum (GO:0072599)2.80282999
115telomere maintenance via recombination (GO:0000722)2.79848604
116IMP biosynthetic process (GO:0006188)2.79580954
117muscle organ development (GO:0007517)2.78250651
118muscle structure development (GO:0061061)2.77968408
119amino-acid betaine transport (GO:0015838)2.77735374
120carnitine transport (GO:0015879)2.77735374
121* pyruvate metabolic process (GO:0006090)2.77472905
122heart process (GO:0003015)2.77398381
123heart contraction (GO:0060047)2.77398381
124protein localization to endoplasmic reticulum (GO:0070972)2.76187955
125triglyceride catabolic process (GO:0019433)2.75431744
126membrane disassembly (GO:0030397)2.73470916
127nuclear envelope disassembly (GO:0051081)2.73470916
128activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.72478675
129regulation of protein heterodimerization activity (GO:0043497)2.72056466
130cardiac cell development (GO:0055006)2.69846618
131viral life cycle (GO:0019058)2.69533843
132regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.69382216
133UDP-N-acetylglucosamine metabolic process (GO:0006047)2.66390427
134hepatocyte apoptotic process (GO:0097284)2.65809846
135DNA replication checkpoint (GO:0000076)2.64611171
136mitotic recombination (GO:0006312)2.64298976
137antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.62881289
138antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.62881289
139nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.59939442
140protein localization to chromosome, centromeric region (GO:0071459)2.55036570
141IMP metabolic process (GO:0046040)2.54620846
1423-UTR-mediated mRNA stabilization (GO:0070935)2.54308660
143ribosomal large subunit biogenesis (GO:0042273)2.51917418
144telomere maintenance via telomere lengthening (GO:0010833)2.47218930
145positive regulation of protein import into nucleus, translocation (GO:0033160)2.46820484
146cellular protein complex disassembly (GO:0043624)2.45079348
147regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.43805392
148regulation of RIG-I signaling pathway (GO:0039535)2.43346609
149ribonucleoprotein complex biogenesis (GO:0022613)2.42648488
150purine-containing compound salvage (GO:0043101)2.38171656
151definitive hemopoiesis (GO:0060216)2.38075938
152purine nucleotide salvage (GO:0032261)2.36138524
153pentose-phosphate shunt (GO:0006098)2.35965804
154ribosome assembly (GO:0042255)2.35539559
155actin nucleation (GO:0045010)2.35393491
156B cell mediated immunity (GO:0019724)2.35360031
157peptide catabolic process (GO:0043171)2.34617001
158regulation of spindle organization (GO:0090224)2.33253820
159DNA replication-dependent nucleosome assembly (GO:0006335)2.31543193
160DNA replication-dependent nucleosome organization (GO:0034723)2.31543193
161DNA topological change (GO:0006265)2.28268288
162immunoglobulin mediated immune response (GO:0016064)2.27991801
163regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.27007331
164ribosome biogenesis (GO:0042254)2.23155275
165regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.22021485
166DNA duplex unwinding (GO:0032508)2.21634347
167CENP-A containing nucleosome assembly (GO:0034080)2.20823826
168T cell apoptotic process (GO:0070231)2.20214305
169response to interferon-beta (GO:0035456)2.18585353
170intestinal absorption (GO:0050892)2.18230059
171DNA geometric change (GO:0032392)2.17847997
172NADPH regeneration (GO:0006740)2.17400543
173nuclear-transcribed mRNA catabolic process (GO:0000956)2.16829624
174protein complex disassembly (GO:0043241)2.16298692
175chromatin remodeling at centromere (GO:0031055)2.16112438
176NIK/NF-kappaB signaling (GO:0038061)2.16081135
177nuclear envelope organization (GO:0006998)2.15667834
178chaperone mediated protein folding requiring cofactor (GO:0051085)2.15518251
179pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.15371218
180negative regulation of phagocytosis (GO:0050765)2.14530300
181translation (GO:0006412)2.14141346
182positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.11443722
183viral mRNA export from host cell nucleus (GO:0046784)2.10858005
184nuclear pore organization (GO:0006999)2.08255970
185antigen processing and presentation of endogenous antigen (GO:0019883)2.08048487
186rRNA processing (GO:0006364)2.07947216
187regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.07503859
188maintenance of gastrointestinal epithelium (GO:0030277)2.07319030
189mitotic metaphase plate congression (GO:0007080)2.07307065
190mRNA catabolic process (GO:0006402)2.07160732
191trophectodermal cell differentiation (GO:0001829)2.06624682
192pseudouridine synthesis (GO:0001522)2.06302846
193mitotic G2 DNA damage checkpoint (GO:0007095)2.06283898
194RNA catabolic process (GO:0006401)2.05958451
195telomere maintenance (GO:0000723)2.04562283
196telomere organization (GO:0032200)2.03808095
197lymphocyte apoptotic process (GO:0070227)2.03770733
198lipopolysaccharide biosynthetic process (GO:0009103)2.03481060
199mitotic chromosome condensation (GO:0007076)2.03429429
200nucleotide-excision repair, DNA gap filling (GO:0006297)2.03253438

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.17132352
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.98939134
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.63136674
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.09126605
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.62684746
6RXR_22158963_ChIP-Seq_LIVER_Mouse3.43795949
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.36053989
8ZNF263_19887448_ChIP-Seq_K562_Human3.33039468
9CLOCK_20551151_ChIP-Seq_293T_Human3.24592150
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.10198446
11TRIM28_21343339_ChIP-Seq_HEK293_Human3.08109930
12FOXM1_23109430_ChIP-Seq_U2OS_Human3.01782339
13PPARA_22158963_ChIP-Seq_LIVER_Mouse3.00810961
14ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.84352364
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.80593219
16TBX20_22080862_ChIP-Seq_HEART_Mouse2.75210890
17TBX20_22328084_ChIP-Seq_HEART_Mouse2.75210890
18FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.65272134
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.61127863
20TP63_17297297_ChIP-ChIP_HaCaT_Human2.60013576
21LXR_22158963_ChIP-Seq_LIVER_Mouse2.59802255
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.50890026
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.32794557
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.22133662
25SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.16501112
26MYC_19079543_ChIP-ChIP_MESCs_Mouse2.11925475
27ESR2_21235772_ChIP-Seq_MCF-7_Human2.09664060
28EP300_21415370_ChIP-Seq_HL-1_Mouse2.07496177
29ESR1_20079471_ChIP-ChIP_T-47D_Human2.03008734
30MYC_19030024_ChIP-ChIP_MESCs_Mouse2.00430145
31AR_21909140_ChIP-Seq_LNCAP_Human1.99986785
32MYC_18358816_ChIP-ChIP_MESCs_Mouse1.99786456
33IRF8_22096565_ChIP-ChIP_GC-B_Human1.96354902
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.93859904
35KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.92173569
36* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.88078437
37TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.85276884
38MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.84602339
39TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.84515436
40GABP_17652178_ChIP-ChIP_JURKAT_Human1.84250118
41RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.83667034
42MYC_22102868_ChIP-Seq_BL_Human1.81809273
43NELFA_20434984_ChIP-Seq_ESCs_Mouse1.81461646
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.80487516
45PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.79938701
46MYB_21317192_ChIP-Seq_ERMYB_Mouse1.78369177
47NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.77480055
48EST1_17652178_ChIP-ChIP_JURKAT_Human1.77329535
49CREB1_15753290_ChIP-ChIP_HEK293T_Human1.75064685
50MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.74866999
51* GATA4_21415370_ChIP-Seq_HL-1_Mouse1.64448268
52ETS1_20019798_ChIP-Seq_JURKAT_Human1.64044456
53XRN2_22483619_ChIP-Seq_HELA_Human1.62837387
54PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.60918291
55SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.60045227
56* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.59175333
57ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.59054483
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.57926871
59SPI1_23547873_ChIP-Seq_NB4_Human1.57409613
60VDR_23849224_ChIP-Seq_CD4+_Human1.55303510
61SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.55106997
62SCL_19346495_ChIP-Seq_HPC-7_Human1.54526388
63E2F1_18555785_ChIP-Seq_MESCs_Mouse1.53726303
64RACK7_27058665_Chip-Seq_MCF-7_Human1.53143358
65BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.52756170
66EGR1_23403033_ChIP-Seq_LIVER_Mouse1.52719535
67TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.52315318
68JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.51717879
69VDR_21846776_ChIP-Seq_THP-1_Human1.51683781
70ELK1_19687146_ChIP-ChIP_HELA_Human1.49698455
71NANOG_18555785_ChIP-Seq_MESCs_Mouse1.48415512
72LXR_22292898_ChIP-Seq_THP-1_Human1.48413013
73* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.47578671
74* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.47460071
75FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.46910437
76IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.46806424
77E2F1_21310950_ChIP-Seq_MCF-7_Human1.46716939
78* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.46275082
79NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.44732065
80CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.43017619
81POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.40808989
82SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.40161563
83ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.39806179
84FOXP3_21729870_ChIP-Seq_TREG_Human1.39689923
85DCP1A_22483619_ChIP-Seq_HELA_Human1.39624778
86NFIB_24661679_ChIP-Seq_LUNG_Mouse1.38447951
87* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.37183861
88MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.37106301
89RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35614700
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.35186988
91CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.35108136
92* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.35063014
93STAT3_1855785_ChIP-Seq_MESCs_Mouse1.32705313
94IRF8_21731497_ChIP-ChIP_J774_Mouse1.32244056
95NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.32052425
96GABP_19822575_ChIP-Seq_HepG2_Human1.24778425
97KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.24272025
98TTF2_22483619_ChIP-Seq_HELA_Human1.24081240
99WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.23421606
100RUNX1_22412390_ChIP-Seq_EML_Mouse1.22366217
101CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21946754
102* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.21506630
103TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.21213079
104GATA1_22383799_ChIP-Seq_G1ME_Mouse1.19794796
105* TFEB_21752829_ChIP-Seq_HELA_Human1.19703866
106STAT4_19710469_ChIP-ChIP_TH1__Mouse1.18823723
107BRD4_27068464_Chip-Seq_AML-cells_Mouse1.18185842
108STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.17596899
109NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.17112756
110ZFX_18555785_ChIP-Seq_MESCs_Mouse1.16328709
111SMC3_22415368_ChIP-Seq_MEFs_Mouse1.15824712
112ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15655967
113KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14894297
114HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.14810369
115CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.14745663
116* MYB_26560356_Chip-Seq_TH2_Human1.13306821
117GATA1_22025678_ChIP-Seq_K562_Human1.13273464
118* FOXA2_19822575_ChIP-Seq_HepG2_Human1.13007815
119CIITA_25753668_ChIP-Seq_RAJI_Human1.12465939
120MYCN_18555785_ChIP-Seq_MESCs_Mouse1.12396215
121* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.11456519
122TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.11389604
123NOTCH1_21737748_ChIP-Seq_TLL_Human1.11168473
124GATA2_22383799_ChIP-Seq_G1ME_Mouse1.10872326
125PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.10166563
126ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09977623
127VDR_24763502_ChIP-Seq_THP-1_Human1.08730986
128FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08630892
129* MAF_26560356_Chip-Seq_TH1_Human1.08047712
130* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.07993096
131* ELK3_25401928_ChIP-Seq_HUVEC_Human1.07924789
132* CTCF_27219007_Chip-Seq_Bcells_Human1.07529430
133* MYB_26560356_Chip-Seq_TH1_Human1.05464351
134RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.05370192
135HIF1A_21447827_ChIP-Seq_MCF-7_Human1.05180374
136ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04896760
137FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.04612228
138ESR1_21235772_ChIP-Seq_MCF-7_Human1.04524714
139POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.04256931
140TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.04222104
141UTX_26944678_Chip-Seq_JUKART_Human1.03706697
142BP1_19119308_ChIP-ChIP_Hs578T_Human1.03005843
143CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.01511445
144STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00910783
145KDM5A_27292631_Chip-Seq_BREAST_Human1.00566849
146* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.00540695
147TCF3_18692474_ChIP-Seq_MEFs_Mouse1.00116014
148STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99369966
149GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.99180577
150SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.98838874
151SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98747504
152* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97837028
153CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.97126484
154SOX9_24532713_ChIP-Seq_HFSC_Mouse0.97094316
155P63_26484246_Chip-Seq_KERATINOCYTES_Human0.96481342
156SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.95762786
157TP63_19390658_ChIP-ChIP_HaCaT_Human0.95508869
158* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95458819
159KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.95128604
160HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.94968240
161SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.94338968
162* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.93110724
163SMC1_22415368_ChIP-Seq_MEFs_Mouse0.92652940
164UBF1/2_26484160_Chip-Seq_HMECs_Human0.92442669
165KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.92237523
166UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.89652068
167CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.88850269
168ATF3_27146783_Chip-Seq_COLON_Human0.87095929
169PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.86034348
170TET1_21451524_ChIP-Seq_MESCs_Mouse0.84621972
171PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.83982256
172SOX2_27498859_Chip-Seq_STOMACH_Mouse0.83170275
173ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.82617714
174* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.82216373
175* PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.81845970
176* EOMES_21245162_ChIP-Seq_HESCs_Human0.80889373
177MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.80724031
178TBX5_21415370_ChIP-Seq_HL-1_Mouse0.79985745
179CSB_26484114_Chip-Seq_FIBROBLAST_Human0.79363118
180OCT4_18692474_ChIP-Seq_MEFs_Mouse0.79184796
181HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.79065757
182DNAJC2_21179169_ChIP-ChIP_NT2_Human0.78190269
183ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.77476296
184SPI1_20517297_ChIP-Seq_HL60_Human0.77258858
185RAD21_21589869_ChIP-Seq_MESCs_Mouse0.75073274
186SMC4_20622854_ChIP-Seq_HELA_Human0.75016330
187ERG_21242973_ChIP-ChIP_JURKAT_Human0.74448472

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000751_myopathy5.69157932
2MP0003646_muscle_fatigue5.32478072
3MP0000749_muscle_degeneration5.02179084
4MP0004145_abnormal_muscle_electrophysio4.94831207
5MP0004036_abnormal_muscle_relaxation3.79934876
6MP0004087_abnormal_muscle_fiber3.27445875
7MP0006054_spinal_hemorrhage3.17071294
8MP0000747_muscle_weakness3.16349689
9MP0002106_abnormal_muscle_physiology3.14613689
10MP0000759_abnormal_skeletal_muscle3.11464837
11MP0005451_abnormal_body_composition3.06195881
12MP0004130_abnormal_muscle_cell2.98921756
13MP0004233_abnormal_muscle_weight2.95154676
14MP0004084_abnormal_cardiac_muscle2.90665787
15MP0003693_abnormal_embryo_hatching2.87555403
16MP0005330_cardiomyopathy2.83910314
17MP0002269_muscular_atrophy2.79172376
18MP0005369_muscle_phenotype2.67506775
19MP0000490_abnormal_crypts_of2.64504118
20MP0010352_gastrointestinal_tract_polyps2.53396986
21MP0000750_abnormal_muscle_regeneration2.51046293
22MP0005670_abnormal_white_adipose2.45469370
23MP0004957_abnormal_blastocyst_morpholog2.40867945
24MP0005620_abnormal_muscle_contractility2.39520276
25MP0002332_abnormal_exercise_endurance2.35844712
26MP0003724_increased_susceptibility_to2.25265527
27MP0002396_abnormal_hematopoietic_system2.20259381
28MP0003077_abnormal_cell_cycle2.11898467
29MP0002972_abnormal_cardiac_muscle2.07111845
30MP0003111_abnormal_nucleus_morphology2.00239831
31MP0004264_abnormal_extraembryonic_tissu1.98704722
32MP0010094_abnormal_chromosome_stability1.93163997
33MP0001661_extended_life_span1.92565637
34MP0001873_stomach_inflammation1.91615794
35MP0006138_congestive_heart_failure1.89387378
36MP0005666_abnormal_adipose_tissue1.87777359
37MP0000733_abnormal_muscle_development1.87666196
38MP0000013_abnormal_adipose_tissue1.82679887
39MP0001545_abnormal_hematopoietic_system1.81764243
40MP0005397_hematopoietic_system_phenotyp1.81764243
41MP0006036_abnormal_mitochondrial_physio1.81433058
42MP0002971_abnormal_brown_adipose1.78651424
43MP0008007_abnormal_cellular_replicative1.75939633
44MP0002108_abnormal_muscle_morphology1.75438489
45MP0009333_abnormal_splenocyte_physiolog1.71915803
46MP0010630_abnormal_cardiac_muscle1.69628989
47MP0010155_abnormal_intestine_physiology1.69628207
48MP0004215_abnormal_myocardial_fiber1.68970650
49MP0004185_abnormal_adipocyte_glucose1.67779694
50MP0005375_adipose_tissue_phenotype1.65140427
51MP0003950_abnormal_plasma_membrane1.62503415
52MP0009785_altered_susceptibility_to1.62326915
53MP0004808_abnormal_hematopoietic_stem1.61196622
54MP0004147_increased_porphyrin_level1.60868275
55MP0002139_abnormal_hepatobiliary_system1.58851454
56MP0003566_abnormal_cell_adhesion1.56367636
57MP0003705_abnormal_hypodermis_morpholog1.55644997
58MP0000465_gastrointestinal_hemorrhage1.54170154
59MP0000003_abnormal_adipose_tissue1.52748771
60MP0000858_altered_metastatic_potential1.50708169
61MP0002837_dystrophic_cardiac_calcinosis1.50246912
62MP0002877_abnormal_melanocyte_morpholog1.49728107
63MP0010307_abnormal_tumor_latency1.47608268
64MP0004484_altered_response_of1.47593254
65MP0008057_abnormal_DNA_replication1.47272570
66MP0009278_abnormal_bone_marrow1.45815963
67MP0005385_cardiovascular_system_phenoty1.45444540
68MP0001544_abnormal_cardiovascular_syste1.45444540
69MP0003300_gastrointestinal_ulcer1.45281901
70MP0001835_abnormal_antigen_presentation1.43009983
71MP0003866_abnormal_defecation1.41975275
72MP0005023_abnormal_wound_healing1.41618723
73MP0003436_decreased_susceptibility_to1.39146375
74MP0002405_respiratory_system_inflammati1.34685270
75MP0005360_urolithiasis1.34472021
76MP0004510_myositis1.33745917
77MP0003806_abnormal_nucleotide_metabolis1.33040174
78MP0003763_abnormal_thymus_physiology1.31829362
79MP0002398_abnormal_bone_marrow1.30688298
80MP0000350_abnormal_cell_proliferation1.28443013
81MP0010234_abnormal_vibrissa_follicle1.27929876
82MP0000477_abnormal_intestine_morphology1.26888591
83MP0005025_abnormal_response_to1.26393771
84MP0008058_abnormal_DNA_repair1.26037981
85MP0002452_abnormal_antigen_presenting1.23736642
86MP0001666_abnormal_nutrient_absorption1.23654905
87MP0002148_abnormal_hypersensitivity_rea1.22574469
88MP0002419_abnormal_innate_immunity1.21852609
89MP0002722_abnormal_immune_system1.20659741
90MP0001915_intracranial_hemorrhage1.20282776
91MP0002420_abnormal_adaptive_immunity1.18877368
92MP0001819_abnormal_immune_cell1.18016249
93MP0009379_abnormal_foot_pigmentation1.17108912
94MP0002019_abnormal_tumor_incidence1.16976034
95MP0005464_abnormal_platelet_physiology1.16354852
96MP0005266_abnormal_metabolism1.16244345
97MP0002132_abnormal_respiratory_system1.15958412
98MP0008438_abnormal_cutaneous_collagen1.15332419
99MP0003221_abnormal_cardiomyocyte_apopto1.14733958
100MP0000689_abnormal_spleen_morphology1.14153898
101MP0002127_abnormal_cardiovascular_syste1.14102775
102MP0008775_abnormal_heart_ventricle1.12676970
103MP0001800_abnormal_humoral_immune1.10488793
104MP0005000_abnormal_immune_tolerance1.09961637
105MP0005671_abnormal_response_to1.09300188
106MP0002429_abnormal_blood_cell1.09037150
107MP0004947_skin_inflammation1.08370676
108MP0001663_abnormal_digestive_system1.08324565
109MP0002086_abnormal_extraembryonic_tissu1.08026318
110MP0002166_altered_tumor_susceptibility1.07825254
111MP0001879_abnormal_lymphatic_vessel1.07505345
112MP0003448_altered_tumor_morphology1.04655186
113MP0002723_abnormal_immune_serum1.03766100
114MP0000685_abnormal_immune_system1.03512134
115MP0000372_irregular_coat_pigmentation1.02916661
116MP0005365_abnormal_bile_salt1.02702542
117MP0009840_abnormal_foam_cell1.02220944
118MP0000716_abnormal_immune_system1.02076993
119MP0008932_abnormal_embryonic_tissue1.01890364
120MP0003567_abnormal_fetal_cardiomyocyte1.01804565
121MP0008004_abnormal_stomach_pH1.01748956
122MP0005076_abnormal_cell_differentiation1.00948991
123MP0009780_abnormal_chondrocyte_physiolo1.00784113
124MP0001845_abnormal_inflammatory_respons0.98302768
125MP0010368_abnormal_lymphatic_system0.98146602
126MP0000343_altered_response_to0.96355525
127MP0001730_embryonic_growth_arrest0.95986849
128MP0000313_abnormal_cell_death0.94969517
129MP0001853_heart_inflammation0.94855050
130MP0003191_abnormal_cellular_cholesterol0.94467397
131MP0005084_abnormal_gallbladder_morpholo0.94318000
132MP0010030_abnormal_orbit_morphology0.94251975
133MP0002006_tumorigenesis0.93498577
134MP0003279_aneurysm0.92927153
135MP0003656_abnormal_erythrocyte_physiolo0.92259270
136MP0001533_abnormal_skeleton_physiology0.92061639
137MP0003984_embryonic_growth_retardation0.91948706
138MP0005380_embryogenesis_phenotype0.90254657
139MP0001672_abnormal_embryogenesis/_devel0.90254657
140MP0010329_abnormal_lipoprotein_level0.90075857
141MP0003868_abnormal_feces_composition0.89770669
142MP0003943_abnormal_hepatobiliary_system0.88894769
143MP0005332_abnormal_amino_acid0.88719999
144MP0003186_abnormal_redox_activity0.88490799
145MP0002088_abnormal_embryonic_growth/wei0.88091556
146MP0000537_abnormal_urethra_morphology0.86679689
147MP0001697_abnormal_embryo_size0.85825495
148MP0002080_prenatal_lethality0.85801527
149MP0005174_abnormal_tail_pigmentation0.85748543
150MP0000703_abnormal_thymus_morphology0.85229729
151MP0006082_CNS_inflammation0.83727461
152MP0004272_abnormal_basement_membrane0.82605885
153MP0005085_abnormal_gallbladder_physiolo0.81408099
154MP0005584_abnormal_enzyme/coenzyme_acti0.80571881
155MP0003303_peritoneal_inflammation0.79114700
156MP0001243_abnormal_dermal_layer0.78746968
157MP0005165_increased_susceptibility_to0.77817261
158MP0003828_pulmonary_edema0.77785694
159MP0003137_abnormal_impulse_conducting0.74241521
160MP0000762_abnormal_tongue_morphology0.72363235
161MP0002118_abnormal_lipid_homeostasis0.71417609
162MP0009672_abnormal_birth_weight0.69965808
163MP0001299_abnormal_eye_distance/0.67165558
164MP0000266_abnormal_heart_morphology0.66013085
165MP0002078_abnormal_glucose_homeostasis0.64123169
166MP0005334_abnormal_fat_pad0.60715117
167MP0005319_abnormal_enzyme/_coenzyme0.60497805
168MP0003959_abnormal_lean_body0.60487730
169MP0005275_abnormal_skin_tensile0.59906633
170MP0004085_abnormal_heartbeat0.59013146
171MP0002128_abnormal_blood_circulation0.58934870
172MP0005083_abnormal_biliary_tract0.57827330
173MP0003941_abnormal_skin_development0.57054315
174MP0002896_abnormal_bone_mineralization0.56057886
175MP0009115_abnormal_fat_cell0.54033116
176MP0004270_analgesia0.53234378
177MP0004858_abnormal_nervous_system0.53185411
178MP0005452_abnormal_adipose_tissue0.50764952
179MP0005535_abnormal_body_temperature0.47677602
180MP0001958_emphysema0.46510384
181MP0005257_abnormal_intraocular_pressure0.45919935
182MP0003879_abnormal_hair_cell0.45521712
183MP0002876_abnormal_thyroid_physiology0.45358738
184MP0002970_abnormal_white_adipose0.44763193
185MP0009697_abnormal_copulation0.44597800
186MP0005376_homeostasis/metabolism_phenot0.44019339
187MP0000609_abnormal_liver_physiology0.40933570
188MP0005408_hypopigmentation0.40026698
189MP0001849_ear_inflammation0.39252720
190MP0000467_abnormal_esophagus_morphology0.37408308

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)9.56606013
2Muscle fiber inclusion bodies (HP:0100299)9.54959020
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.19520107
4Exercise-induced myalgia (HP:0003738)7.51302155
5Type 1 muscle fiber predominance (HP:0003803)7.47858858
6Exercise-induced muscle cramps (HP:0003710)6.97636706
7Myoglobinuria (HP:0002913)5.17615036
8Myopathic facies (HP:0002058)5.13718646
9Muscle hypertrophy of the lower extremities (HP:0008968)5.13418599
10Distal arthrogryposis (HP:0005684)4.93208638
11EMG: myopathic abnormalities (HP:0003458)4.92882002
12* Rhabdomyolysis (HP:0003201)4.74207759
13Calf muscle hypertrophy (HP:0008981)4.56761874
14Centrally nucleated skeletal muscle fibers (HP:0003687)4.51550713
15Hyporeflexia of lower limbs (HP:0002600)4.46303210
16Abnormality of skeletal muscle fiber size (HP:0012084)4.36593312
17Round ear (HP:0100830)4.33292954
18Muscle fiber splitting (HP:0003555)4.32228201
19Neck muscle weakness (HP:0000467)4.25640551
20Abnormality of the calf musculature (HP:0001430)4.12546033
21Ulnar deviation of the wrist (HP:0003049)4.09896323
22Increased connective tissue (HP:0009025)4.06379105
23Reticulocytopenia (HP:0001896)3.97829035
24Rimmed vacuoles (HP:0003805)3.87852051
25Distal lower limb muscle weakness (HP:0009053)3.85474065
26Increased variability in muscle fiber diameter (HP:0003557)3.83324503
27Abnormality of the left ventricular outflow tract (HP:0011103)3.78105966
28Subaortic stenosis (HP:0001682)3.78105966
29Muscle stiffness (HP:0003552)3.73563701
30Aplastic anemia (HP:0001915)3.69805686
31Calcaneovalgus deformity (HP:0001848)3.64749794
32Difficulty running (HP:0009046)3.63639745
33Thrombocytosis (HP:0001894)3.52679045
34Asymmetric septal hypertrophy (HP:0001670)3.43711660
35Sudden death (HP:0001699)3.36560353
36Abnormal number of erythroid precursors (HP:0012131)3.35646297
37Petechiae (HP:0000967)3.35024544
38Abnormality of cells of the erythroid lineage (HP:0012130)3.30603930
39Deformed tarsal bones (HP:0008119)3.24989353
40Frequent falls (HP:0002359)3.02557614
41Bundle branch block (HP:0011710)3.00558151
42Absent phalangeal crease (HP:0006109)2.99917175
43IgM deficiency (HP:0002850)2.92683574
44Myotonia (HP:0002486)2.91269101
45Mildly elevated creatine phosphokinase (HP:0008180)2.88930884
46Areflexia of lower limbs (HP:0002522)2.78545451
47Distal lower limb amyotrophy (HP:0008944)2.78013263
48Ventricular tachycardia (HP:0004756)2.77778476
49Spinal rigidity (HP:0003306)2.66334639
50Generalized muscle weakness (HP:0003324)2.65501935
51Autoimmune thrombocytopenia (HP:0001973)2.63470651
52Malignant hyperthermia (HP:0002047)2.62436835
53* Dilated cardiomyopathy (HP:0001644)2.53974941
54Pallor (HP:0000980)2.53530739
55Lipoatrophy (HP:0100578)2.52035122
56EMG: neuropathic changes (HP:0003445)2.50644661
57Scapular winging (HP:0003691)2.45521783
58Abnormal finger flexion creases (HP:0006143)2.43780052
59Recurrent abscess formation (HP:0002722)2.43026554
60Eczematoid dermatitis (HP:0000976)2.41070299
61Slender build (HP:0001533)2.40511227
62Limb-girdle muscle atrophy (HP:0003797)2.40198335
63Gowers sign (HP:0003391)2.39288272
64Bulbar palsy (HP:0001283)2.38076336
65Protrusio acetabuli (HP:0003179)2.36015020
66Chronic otitis media (HP:0000389)2.35366475
67Nonimmune hydrops fetalis (HP:0001790)2.34819347
68Chromsome breakage (HP:0040012)2.33384024
69Progressive muscle weakness (HP:0003323)2.31207415
70Abnormality of the heme biosynthetic pathway (HP:0010472)2.30815392
71Elevated erythrocyte sedimentation rate (HP:0003565)2.27290098
72Myositis (HP:0100614)2.25466435
73Prolonged bleeding time (HP:0003010)2.23942962
74Abnormality of glycolysis (HP:0004366)2.22934362
75Selective tooth agenesis (HP:0001592)2.21450150
76Ragged-red muscle fibers (HP:0003200)2.20338188
77Pustule (HP:0200039)2.17666847
78Increased serum pyruvate (HP:0003542)2.14881841
79Myelodysplasia (HP:0002863)2.12859191
80Chromosomal breakage induced by crosslinking agents (HP:0003221)2.12480993
81Abnormal atrioventricular conduction (HP:0005150)2.11910823
82Cellulitis (HP:0100658)2.11699908
83Cervical subluxation (HP:0003308)2.11516706
84Difficulty climbing stairs (HP:0003551)2.10875193
85Recurrent viral infections (HP:0004429)2.10352200
86Abnormal platelet volume (HP:0011876)2.09797172
87Heart block (HP:0012722)2.08441099
88Abnormality of reticulocytes (HP:0004312)2.05335156
89Lower limb amyotrophy (HP:0007210)2.04220032
9011 pairs of ribs (HP:0000878)2.03700007
91Ileus (HP:0002595)2.03418132
92Microretrognathia (HP:0000308)2.02674815
93Weak cry (HP:0001612)2.00887633
94Increased mean platelet volume (HP:0011877)2.00592961
95Recurrent fungal infections (HP:0002841)1.98515210
96Abnormality of the foot musculature (HP:0001436)1.97224851
97Hypoalphalipoproteinemia (HP:0003233)1.96606870
98Micronodular cirrhosis (HP:0001413)1.94779734
99Deviation of the thumb (HP:0009603)1.93662467
100Abnormality of the anterior horn cell (HP:0006802)1.93443127
101Degeneration of anterior horn cells (HP:0002398)1.93443127
102Tongue fasciculations (HP:0001308)1.92833648
103* Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.92755154
104* Abnormal protein N-linked glycosylation (HP:0012347)1.92755154
105* Abnormal protein glycosylation (HP:0012346)1.92755154
106* Abnormal glycosylation (HP:0012345)1.92755154
107Recurrent bacterial skin infections (HP:0005406)1.92504041
108Muscular dystrophy (HP:0003560)1.91360442
109Birth length less than 3rd percentile (HP:0003561)1.90726434
110Congenital, generalized hypertrichosis (HP:0004540)1.89999436
111Agnosia (HP:0010524)1.89793483
112Abnormality of chromosome stability (HP:0003220)1.89688991
113Foot dorsiflexor weakness (HP:0009027)1.89486303
114Multiple enchondromatosis (HP:0005701)1.89442066
115Hyperkalemia (HP:0002153)1.87473019
116Short middle phalanx of the 5th finger (HP:0004220)1.86468091
117Poor head control (HP:0002421)1.86321057
118Amaurosis fugax (HP:0100576)1.85946155
119Macrocytic anemia (HP:0001972)1.85488488
120Mediastinal lymphadenopathy (HP:0100721)1.85287635
121Trismus (HP:0000211)1.84146228
122Waddling gait (HP:0002515)1.83102775
123Muscle fibrillation (HP:0010546)1.83082518
124Abnormality of the shoulder girdle musculature (HP:0001435)1.82017252
125Proximal placement of thumb (HP:0009623)1.81811625
126Abnormality of the Achilles tendon (HP:0005109)1.81672176
127Spontaneous hematomas (HP:0007420)1.81631898
128Abnormality of the neuromuscular junction (HP:0003398)1.81275818
129Fatigable weakness (HP:0003473)1.81275818
130Deep venous thrombosis (HP:0002625)1.80956363
131Abnormality of T cell physiology (HP:0011840)1.80722325
132Granulocytopenia (HP:0001913)1.80646657
133Oral leukoplakia (HP:0002745)1.80598798
134Breast hypoplasia (HP:0003187)1.80492633
135Achilles tendon contracture (HP:0001771)1.80018412
136Duodenal stenosis (HP:0100867)1.79979495
137Small intestinal stenosis (HP:0012848)1.79979495
138Mesangial abnormality (HP:0001966)1.77325668
139Limb-girdle muscle weakness (HP:0003325)1.77305229
140Respiratory insufficiency due to muscle weakness (HP:0002747)1.75482682
141Oligomenorrhea (HP:0000876)1.75481179
142Fetal akinesia sequence (HP:0001989)1.74647413
143Lymphoma (HP:0002665)1.72916908
144Periodontitis (HP:0000704)1.71430966
145Pili torti (HP:0003777)1.71410389
146Hip contracture (HP:0003273)1.70984239
147Proximal amyotrophy (HP:0007126)1.70744536
148Abnormality of the calcaneus (HP:0008364)1.70248107
149Abnormality of the ileum (HP:0001549)1.68913599
150Vertebral compression fractures (HP:0002953)1.68049449
151Back pain (HP:0003418)1.67630917
152Atrioventricular block (HP:0001678)1.67472958
153Polycythemia (HP:0001901)1.66863981
154Meckel diverticulum (HP:0002245)1.66157475
155Leukocytosis (HP:0001974)1.65169137
156Ventricular arrhythmia (HP:0004308)1.65089926
157Rough bone trabeculation (HP:0100670)1.64873610
158Esophageal neoplasm (HP:0100751)1.64594873
159Neoplasm of head and neck (HP:0012288)1.64594873
160Impaired platelet aggregation (HP:0003540)1.64501739
161Abnormal platelet function (HP:0011869)1.64501739
162Abnormality of the nasal mucosa (HP:0000433)1.63193591
163Epistaxis (HP:0000421)1.63186430
164* Reduced antithrombin III activity (HP:0001976)1.62521558
165Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.62425309
166Shoulder girdle muscle weakness (HP:0003547)1.61940667
167Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.61607382
168Vertebral hypoplasia (HP:0008417)1.61607382
169Popliteal pterygium (HP:0009756)1.61369838
170Abnormality of macrophages (HP:0004311)1.61319909
171Blepharitis (HP:0000498)1.60986843
172Ankle contracture (HP:0006466)1.60492962
173Abnormality of fatty-acid metabolism (HP:0004359)1.59738534
174Increased serum ferritin (HP:0003281)1.59540641
175Metatarsus adductus (HP:0001840)1.59154935
176Right ventricular cardiomyopathy (HP:0011663)1.59077290
177Broad palm (HP:0001169)1.58632847
178Abnormality of the preputium (HP:0100587)1.58341345
179Capillary hemangiomas (HP:0005306)1.57637518
180* Type I transferrin isoform profile (HP:0003642)1.57538021
181Increased IgE level (HP:0003212)1.57013492
182Abnormality of the hip-girdle musculature (HP:0001445)1.56603392
183Abnormality of the musculature of the pelvis (HP:0001469)1.56603392
184Gastrointestinal dysmotility (HP:0002579)1.56007479
185Skin ulcer (HP:0200042)1.55616400
186Acute myeloid leukemia (HP:0004808)1.55572316
187Bone marrow hypocellularity (HP:0005528)1.55142539
188Aplasia/Hypoplasia of the sacrum (HP:0008517)1.54565370
189Wide cranial sutures (HP:0010537)1.54498180
190* Exercise intolerance (HP:0003546)1.54345268
191Combined immunodeficiency (HP:0005387)1.53968262
192IgA deficiency (HP:0002720)1.53802255
193Abnormality of monocarboxylic acid metabolism (HP:0010996)1.53431000
194Increased muscle lipid content (HP:0009058)1.52397715
195Paralysis (HP:0003470)1.51047547
196Pelvic girdle muscle weakness (HP:0003749)1.50515568
197Generalized amyotrophy (HP:0003700)1.49844185
198Hypolipoproteinemia (HP:0010981)1.48886769

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.54479008
2TTN5.91475751
3PHKG15.14598167
4PHKG25.14598167
5WEE12.64910736
6PIM22.56907768
7KDR2.48395386
8STK102.40793668
9PIK3CG2.28136055
10PDK22.20397133
11FLT32.08787707
12BUB12.02436905
13TGFBR12.01126671
14BRSK22.01125469
15PKN21.98557068
16TESK21.97198280
17MST41.96332477
18RPS6KB21.81477935
19CDC71.74880437
20EIF2AK11.72688706
21EEF2K1.71211715
22RPS6KA41.69329905
23MAPK121.67954501
24LRRK21.66194542
25MAP4K11.65401417
26EIF2AK31.63822991
27IRAK41.62811396
28ERN11.60010329
29EPHA21.58832348
30PAK41.54523217
31ACVR1B1.44793188
32LIMK11.43763371
33STK31.37304493
34NME21.36696652
35MAP3K71.36537743
36BLK1.36371532
37KIT1.33435856
38TSSK61.32679361
39NEK21.32181206
40MOS1.31697245
41CDK71.31075758
42JAK31.30909259
43TTK1.28214180
44NEK91.28129202
45PIM11.28124888
46MUSK1.27592546
47TBK11.24954571
48MAP3K81.24585275
49TEC1.23339400
50DMPK1.21709503
51ICK1.20245821
52BTK1.18667056
53SCYL21.17078929
54PRKG21.16777324
55TGFBR21.15457380
56ARAF1.14129107
57VRK11.11969727
58PRKAA21.11930059
59BCKDK1.11501634
60STK161.11234196
61AURKB1.10854942
62ZAP701.10588529
63PINK11.09948222
64LATS21.08445982
65MATK1.06504253
66TIE11.06223951
67PTK60.99939170
68MAP3K100.99890243
69TESK10.96790418
70PASK0.94585222
71CDK120.92544292
72FRK0.92432788
73MYLK0.92363507
74GRK60.90146089
75DYRK30.89622837
76AKT20.88188225
77MAP3K110.88023939
78CAMK2G0.87355004
79PLK10.85020513
80MAP2K20.83028106
81CDK40.82998380
82STK240.82868529
83MAP2K40.82582599
84PBK0.82208622
85ATR0.81573571
86PDGFRA0.81350487
87STK40.80563302
88TAOK30.79900896
89MAP2K30.79620520
90SIK10.79592269
91PRPF4B0.78343375
92TYK20.78195788
93LMTK20.77953414
94PAK20.77405042
95IRAK30.77142589
96PLK40.77115945
97RIPK10.75642858
98PRKAA10.73348855
99MAPKAPK30.72817657
100MET0.72674835
101CDK80.70913299
102TRIB30.70893237
103CSK0.70141257
104NEK10.69880822
105MKNK10.68817004
106KSR20.68741662
107BRSK10.68663310
108MAPK110.68315640
109FGFR40.68235872
110CDK60.66428288
111EPHB10.66379800
112CHEK20.65779194
113MAP3K130.64738510
114MAP3K140.64685233
115NUAK10.63568649
116TRPM70.62854893
117IKBKB0.62082317
118MAP3K30.60494435
119NME10.59612204
120PLK30.59281382
121CAMK2D0.58547801
122MAPK70.57806969
123PTK20.57625765
124DYRK1B0.56652181
125ERBB30.56530842
126MAP2K10.55417530
127CSF1R0.54263811
128MAPKAPK20.54249135
129LATS10.53869080
130CCNB10.52737323
131MAPK40.52051808
132PRKCI0.51623234
133MAP2K60.51355002
134LYN0.50524162
135PDPK10.49748797
136TXK0.49340496
137MAP3K60.48107252
138TAOK20.47837133
139MST1R0.47592870
140LCK0.46422846
141EIF2AK20.46256361
142YES10.46192724
143ITK0.46075951
144NLK0.45752620
145* PAK10.44471497
146IKBKE0.44441425
147CHEK10.43617344
148CAMK40.42671589
149TLK10.42604697
150MAP3K90.41842740
151PIK3CA0.41785312
152ABL20.41644535
153MTOR0.41431955
154ROCK10.40953590
155PRKG10.37861526
156MAP3K10.37071255
157BRAF0.35300588
158CAMK10.34710171
159PRKD10.33394388
160SGK30.32746578
161ILK0.31638110
162CAMK2B0.30810572
163EPHB20.30655254
164PRKACG0.25384246
165DDR20.22676306
166PDK10.22413102
167SMG10.21416621
168CAMK2A0.21022647
169PRKACA0.20735497
170MAPK100.19822594
171RPS6KA30.19370585
172MARK10.19047784
173RAF10.18347953
174PRKACB0.18033028
175GSK3A0.17866940
176ROCK20.16209385
177DAPK30.16079545
178PKN10.15619548

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.10758349
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.07251269
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.03980760
4DNA replication_Homo sapiens_hsa030303.49846360
5Carbon metabolism_Homo sapiens_hsa012002.68490592
6Ribosome_Homo sapiens_hsa030102.68097080
7Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.67689287
8Arginine biosynthesis_Homo sapiens_hsa002202.59199229
9Mismatch repair_Homo sapiens_hsa034302.49450601
10Pyruvate metabolism_Homo sapiens_hsa006202.42454995
11Dilated cardiomyopathy_Homo sapiens_hsa054142.41822690
12Base excision repair_Homo sapiens_hsa034102.41581434
13Fatty acid degradation_Homo sapiens_hsa000712.39656511
14Phenylalanine metabolism_Homo sapiens_hsa003602.29844919
15Biosynthesis of amino acids_Homo sapiens_hsa012302.29216069
16Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.07498232
17Arginine and proline metabolism_Homo sapiens_hsa003302.02554900
18* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.99448674
19Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.99157671
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.96879709
21Propanoate metabolism_Homo sapiens_hsa006401.95752339
22Cardiac muscle contraction_Homo sapiens_hsa042601.94718454
23Spliceosome_Homo sapiens_hsa030401.93144369
24Cell cycle_Homo sapiens_hsa041101.92323990
25RNA transport_Homo sapiens_hsa030131.87758668
26Proteasome_Homo sapiens_hsa030501.87015291
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.84084205
28Homologous recombination_Homo sapiens_hsa034401.80631118
29PPAR signaling pathway_Homo sapiens_hsa033201.76294046
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.73676652
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.71263760
32Fatty acid metabolism_Homo sapiens_hsa012121.70763536
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.66183849
34* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.64677484
35Glucagon signaling pathway_Homo sapiens_hsa049221.63507404
36RNA polymerase_Homo sapiens_hsa030201.63314499
37Pyrimidine metabolism_Homo sapiens_hsa002401.61872309
38Renin-angiotensin system_Homo sapiens_hsa046141.61406750
39One carbon pool by folate_Homo sapiens_hsa006701.61204984
40Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.61036140
41Antigen processing and presentation_Homo sapiens_hsa046121.60970894
42Nucleotide excision repair_Homo sapiens_hsa034201.58663941
43Fatty acid elongation_Homo sapiens_hsa000621.57366158
44p53 signaling pathway_Homo sapiens_hsa041151.57310245
45Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.56436308
46Legionellosis_Homo sapiens_hsa051341.55416495
47Tyrosine metabolism_Homo sapiens_hsa003501.50309555
48Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48540889
49Insulin signaling pathway_Homo sapiens_hsa049101.39553619
50Herpes simplex infection_Homo sapiens_hsa051681.37928188
51* Starch and sucrose metabolism_Homo sapiens_hsa005001.35897869
52Leishmaniasis_Homo sapiens_hsa051401.35079478
53Circadian rhythm_Homo sapiens_hsa047101.33447615
54Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.31759741
55Fat digestion and absorption_Homo sapiens_hsa049751.31549065
56Small cell lung cancer_Homo sapiens_hsa052221.26373360
57Complement and coagulation cascades_Homo sapiens_hsa046101.26283309
58Non-homologous end-joining_Homo sapiens_hsa034501.24750958
59Shigellosis_Homo sapiens_hsa051311.23058224
60Fanconi anemia pathway_Homo sapiens_hsa034601.21929626
61Measles_Homo sapiens_hsa051621.21306550
62Hematopoietic cell lineage_Homo sapiens_hsa046401.19031428
63NF-kappa B signaling pathway_Homo sapiens_hsa040641.16669132
64Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.16068813
65Apoptosis_Homo sapiens_hsa042101.15521464
66Protein export_Homo sapiens_hsa030601.15464406
67AMPK signaling pathway_Homo sapiens_hsa041521.14777482
68Folate biosynthesis_Homo sapiens_hsa007901.14695669
69Butanoate metabolism_Homo sapiens_hsa006501.12424299
70beta-Alanine metabolism_Homo sapiens_hsa004101.12315364
71Insulin resistance_Homo sapiens_hsa049311.11231598
72Leukocyte transendothelial migration_Homo sapiens_hsa046701.08786168
73Primary bile acid biosynthesis_Homo sapiens_hsa001201.07872479
74* Galactose metabolism_Homo sapiens_hsa000521.07371192
75Histidine metabolism_Homo sapiens_hsa003401.05572858
76Viral carcinogenesis_Homo sapiens_hsa052031.05128041
77Epstein-Barr virus infection_Homo sapiens_hsa051691.05060771
78RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.03699869
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.02855643
80RNA degradation_Homo sapiens_hsa030181.02526931
81Influenza A_Homo sapiens_hsa051641.01573048
82Adipocytokine signaling pathway_Homo sapiens_hsa049201.01323883
83Thyroid cancer_Homo sapiens_hsa052160.99298286
84Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98033813
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.97866511
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96844733
87Vitamin digestion and absorption_Homo sapiens_hsa049770.95891129
88Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.95662024
89Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.94377485
90Transcriptional misregulation in cancer_Homo sapiens_hsa052020.93330231
91Tryptophan metabolism_Homo sapiens_hsa003800.92618413
92Glutathione metabolism_Homo sapiens_hsa004800.91997874
93Sulfur relay system_Homo sapiens_hsa041220.91639783
94Hepatitis B_Homo sapiens_hsa051610.91179758
95Caffeine metabolism_Homo sapiens_hsa002320.90088177
96Selenocompound metabolism_Homo sapiens_hsa004500.89799699
97Primary immunodeficiency_Homo sapiens_hsa053400.88742208
98N-Glycan biosynthesis_Homo sapiens_hsa005100.88504247
99Malaria_Homo sapiens_hsa051440.88385797
100Protein digestion and absorption_Homo sapiens_hsa049740.87429810
101Peroxisome_Homo sapiens_hsa041460.87197386
102* Pentose phosphate pathway_Homo sapiens_hsa000300.85427262
103NOD-like receptor signaling pathway_Homo sapiens_hsa046210.85222288
104Toxoplasmosis_Homo sapiens_hsa051450.85126655
105Other glycan degradation_Homo sapiens_hsa005110.84509754
106Pentose and glucuronate interconversions_Homo sapiens_hsa000400.82342520
107Bile secretion_Homo sapiens_hsa049760.81811015
108Fatty acid biosynthesis_Homo sapiens_hsa000610.81646215
109Cyanoamino acid metabolism_Homo sapiens_hsa004600.80633610
110Mineral absorption_Homo sapiens_hsa049780.80527910
111TNF signaling pathway_Homo sapiens_hsa046680.80378724
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.80249214
113Salmonella infection_Homo sapiens_hsa051320.76402430
114Intestinal immune network for IgA production_Homo sapiens_hsa046720.75542621
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.74780344
116MicroRNAs in cancer_Homo sapiens_hsa052060.73991505
117Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.73875951
118Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.73252917
119Viral myocarditis_Homo sapiens_hsa054160.72894204
120Chronic myeloid leukemia_Homo sapiens_hsa052200.71946140
121Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.71837883
122Jak-STAT signaling pathway_Homo sapiens_hsa046300.70895622
123Toll-like receptor signaling pathway_Homo sapiens_hsa046200.70669535
124Fructose and mannose metabolism_Homo sapiens_hsa000510.70615802
125Central carbon metabolism in cancer_Homo sapiens_hsa052300.70286045
126Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70214436
127* Purine metabolism_Homo sapiens_hsa002300.69456088
128Basal transcription factors_Homo sapiens_hsa030220.69170231
129Adherens junction_Homo sapiens_hsa045200.68895869
130Osteoclast differentiation_Homo sapiens_hsa043800.68843377
131HTLV-I infection_Homo sapiens_hsa051660.68222808
132Pertussis_Homo sapiens_hsa051330.67874106
133Sulfur metabolism_Homo sapiens_hsa009200.67458064
134Focal adhesion_Homo sapiens_hsa045100.67176381
135Retinol metabolism_Homo sapiens_hsa008300.66623951
136Acute myeloid leukemia_Homo sapiens_hsa052210.66375454
137Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.65518471
138Graft-versus-host disease_Homo sapiens_hsa053320.65199936
139Bladder cancer_Homo sapiens_hsa052190.65053511
140Lysine degradation_Homo sapiens_hsa003100.62470329
141cGMP-PKG signaling pathway_Homo sapiens_hsa040220.62465259
142Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.62445085
143ECM-receptor interaction_Homo sapiens_hsa045120.61312304
144Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60109238
145mRNA surveillance pathway_Homo sapiens_hsa030150.59821158
146Platelet activation_Homo sapiens_hsa046110.59511950
147Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59426520
148Tight junction_Homo sapiens_hsa045300.59141020
149Alzheimers disease_Homo sapiens_hsa050100.57991268
150Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.57919852
151B cell receptor signaling pathway_Homo sapiens_hsa046620.56969311
152Chemical carcinogenesis_Homo sapiens_hsa052040.56522008
153AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.56366464
154Hepatitis C_Homo sapiens_hsa051600.56232394
155Tuberculosis_Homo sapiens_hsa051520.55112870
156Parkinsons disease_Homo sapiens_hsa050120.54765325
157Arachidonic acid metabolism_Homo sapiens_hsa005900.53422490
158HIF-1 signaling pathway_Homo sapiens_hsa040660.51940760
159Pancreatic cancer_Homo sapiens_hsa052120.51065096
160Notch signaling pathway_Homo sapiens_hsa043300.50934328
161Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50914623
162Drug metabolism - other enzymes_Homo sapiens_hsa009830.50203833
163TGF-beta signaling pathway_Homo sapiens_hsa043500.48311386
164Colorectal cancer_Homo sapiens_hsa052100.48205500
165Calcium signaling pathway_Homo sapiens_hsa040200.48029390
166Oxytocin signaling pathway_Homo sapiens_hsa049210.47507304
167Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46256560
168Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44865831
169Glycerolipid metabolism_Homo sapiens_hsa005610.44616350
170Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.43959898
171Nitrogen metabolism_Homo sapiens_hsa009100.41836167
172Steroid hormone biosynthesis_Homo sapiens_hsa001400.37986380
173Vascular smooth muscle contraction_Homo sapiens_hsa042700.35659844
174* Metabolic pathways_Homo sapiens_hsa011000.35597395
175Prion diseases_Homo sapiens_hsa050200.35370445
176Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29302965
177Vitamin B6 metabolism_Homo sapiens_hsa007500.28816207
178Amoebiasis_Homo sapiens_hsa051460.27370599
179Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27098967
180Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.25140022
181Renin secretion_Homo sapiens_hsa049240.20570560
182Oxidative phosphorylation_Homo sapiens_hsa001900.17613681
183Proteoglycans in cancer_Homo sapiens_hsa052050.14676887
184Regulation of actin cytoskeleton_Homo sapiens_hsa048100.13696682

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