AMPD1

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: Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively 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
1skeletal muscle fiber development (GO:0048741)8.59592579
2actin filament-based movement (GO:0030048)7.97186021
3positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.35352049
4myotube cell development (GO:0014904)7.33969360
5glycogen catabolic process (GO:0005980)7.29395010
6plasma membrane repair (GO:0001778)7.00570167
7response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.84901999
8glucan catabolic process (GO:0009251)6.83437640
9creatine metabolic process (GO:0006600)6.78023852
10striated muscle contraction (GO:0006941)6.77497216
11skeletal muscle tissue regeneration (GO:0043403)6.66616758
12sarcomere organization (GO:0045214)6.56707077
13cellular polysaccharide catabolic process (GO:0044247)6.37685221
14striated muscle atrophy (GO:0014891)6.34229828
15carnitine shuttle (GO:0006853)6.30898721
16response to muscle activity (GO:0014850)6.04633057
17polysaccharide catabolic process (GO:0000272)6.04595550
18regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)6.03924432
19pyrimidine ribonucleoside catabolic process (GO:0046133)5.91212840
20regulation of cell communication by electrical coupling (GO:0010649)5.87035357
21myofibril assembly (GO:0030239)5.85858513
22regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.83259375
23response to inactivity (GO:0014854)5.77916402
24cardiac myofibril assembly (GO:0055003)5.74425031
25muscle contraction (GO:0006936)5.69703819
26striated muscle adaptation (GO:0014888)5.53574932
27muscle atrophy (GO:0014889)5.52210678
28cytidine metabolic process (GO:0046087)5.45691565
29cytidine catabolic process (GO:0006216)5.45691565
30cytidine deamination (GO:0009972)5.45691565
31glucan biosynthetic process (GO:0009250)5.44814280
32glycogen biosynthetic process (GO:0005978)5.44814280
33fatty acid transmembrane transport (GO:1902001)5.29777163
34muscle fiber development (GO:0048747)5.12793192
35NADH metabolic process (GO:0006734)5.07441118
36muscle system process (GO:0003012)5.06109435
37regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.89562308
38positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.83088144
39glycogen metabolic process (GO:0005977)4.80599624
40cardiac muscle hypertrophy (GO:0003300)4.71584213
41glucan metabolic process (GO:0044042)4.71091055
42cellular glucan metabolic process (GO:0006073)4.71091055
43neuronal action potential propagation (GO:0019227)4.68513281
44carnitine transmembrane transport (GO:1902603)4.65097702
45actomyosin structure organization (GO:0031032)4.61727638
46negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.57514651
47striated muscle hypertrophy (GO:0014897)4.50311697
48muscle adaptation (GO:0043500)4.49499322
49regulation of acyl-CoA biosynthetic process (GO:0050812)4.45913562
50fructose metabolic process (GO:0006000)4.38433307
51amino-acid betaine transport (GO:0015838)4.25098334
52carnitine transport (GO:0015879)4.25098334
53response to activity (GO:0014823)4.24233874
54muscle organ morphogenesis (GO:0048644)4.22267097
55negative regulation of skeletal muscle tissue development (GO:0048642)4.21767653
562-oxoglutarate metabolic process (GO:0006103)4.19018575
57cellular carbohydrate catabolic process (GO:0044275)4.11383561
58negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.10727767
59negative regulation of muscle hypertrophy (GO:0014741)4.09260257
60neuromuscular synaptic transmission (GO:0007274)4.08606009
61muscle hypertrophy (GO:0014896)4.02861164
62regulation of coenzyme metabolic process (GO:0051196)4.01457122
63regulation of cofactor metabolic process (GO:0051193)4.01457122
64cellular response to dexamethasone stimulus (GO:0071549)4.01264908
65muscle cell fate commitment (GO:0042693)3.98053133
66muscle organ development (GO:0007517)3.95339151
67gluconeogenesis (GO:0006094)3.93514140
68muscle tissue morphogenesis (GO:0060415)3.93438137
69muscle structure development (GO:0061061)3.90266842
70regulation of skeletal muscle cell differentiation (GO:2001014)3.88897487
71adult heart development (GO:0007512)3.79739799
72regulation of relaxation of muscle (GO:1901077)3.77056697
73muscle cell cellular homeostasis (GO:0046716)3.76727257
74cardiac muscle contraction (GO:0060048)3.75573225
75response to dexamethasone (GO:0071548)3.75344292
76regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.73494974
77striated muscle cell development (GO:0055002)3.72522847
78cardiac muscle tissue morphogenesis (GO:0055008)3.71349098
79myotube differentiation (GO:0014902)3.67660936
80negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.62404718
81negative regulation of calcium ion transmembrane transport (GO:1903170)3.62404718
82skeletal muscle tissue development (GO:0007519)3.61796795
83regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.57033816
84negative regulation of muscle contraction (GO:0045932)3.55844654
85hexose biosynthetic process (GO:0019319)3.52034960
86negative regulation of cAMP-mediated signaling (GO:0043951)3.48196505
87regulation of calcium ion transmembrane transporter activity (GO:1901019)3.47779562
88regulation of calcium ion transmembrane transport (GO:1903169)3.47779562
89negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.47128328
90cardiac muscle cell development (GO:0055013)3.44766935
91tricarboxylic acid cycle (GO:0006099)3.44569586
92cardiac muscle hypertrophy in response to stress (GO:0014898)3.44198593
93muscle hypertrophy in response to stress (GO:0003299)3.44198593
94cardiac muscle adaptation (GO:0014887)3.44198593
95cellular polysaccharide metabolic process (GO:0044264)3.38539153
96striated muscle tissue development (GO:0014706)3.38470817
97ubiquinone biosynthetic process (GO:0006744)3.37613203
98heart contraction (GO:0060047)3.35097178
99heart process (GO:0003015)3.35097178
100positive regulation of myoblast differentiation (GO:0045663)3.30411518
101relaxation of muscle (GO:0090075)3.30023362
102regulation of sulfur metabolic process (GO:0042762)3.29778131
103regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.29636343
104positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.29111573
105positive regulation of myotube differentiation (GO:0010831)3.28640904
106regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.28041064
107regulation of the force of heart contraction (GO:0002026)3.27529153
108regulation of actin filament-based movement (GO:1903115)3.26118641
109regulation of striated muscle contraction (GO:0006942)3.25934512
110positive regulation of cation channel activity (GO:2001259)3.25829170
111myoblast fusion (GO:0007520)3.24699040
112syncytium formation by plasma membrane fusion (GO:0000768)3.24058637
113cellular polysaccharide biosynthetic process (GO:0033692)3.23341500
114neuromuscular junction development (GO:0007528)3.19717645
115regulation of sequestering of triglyceride (GO:0010889)3.19130224
116polysaccharide biosynthetic process (GO:0000271)3.18163876
117muscle cell development (GO:0055001)3.16832188
118intracellular lipid transport (GO:0032365)3.15303134
119polysaccharide metabolic process (GO:0005976)3.10726028
120endoplasmic reticulum organization (GO:0007029)3.10228608
121regulation of sequestering of calcium ion (GO:0051282)3.09625375
122negative regulation of potassium ion transmembrane transport (GO:1901380)3.09151356
123regulation of myoblast differentiation (GO:0045661)3.07596435
124actin-myosin filament sliding (GO:0033275)13.0308828
125muscle filament sliding (GO:0030049)13.0308828
126regulation of skeletal muscle contraction (GO:0014819)12.8486583
127skeletal muscle contraction (GO:0003009)11.7389602
128skeletal muscle adaptation (GO:0043501)10.8087724
129sarcoplasmic reticulum calcium ion transport (GO:0070296)10.6986875
130actin-mediated cell contraction (GO:0070252)10.6475196

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.22482088
2ESR1_20079471_ChIP-ChIP_T-47D_Human3.51227226
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.50879194
4RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.44582094
5TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.28616064
6BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.81405892
7ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.77215286
8PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.50252824
9TBX20_22080862_ChIP-Seq_HEART_Mouse2.41165637
10TBX20_22328084_ChIP-Seq_HEART_Mouse2.41165637
11CDX2_19796622_ChIP-Seq_MESCs_Mouse2.38424965
12ZNF263_19887448_ChIP-Seq_K562_Human2.32112431
13AR_21572438_ChIP-Seq_LNCaP_Human2.26247914
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.13164754
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.02065783
16BP1_19119308_ChIP-ChIP_Hs578T_Human10.1850544
17CTCF_21964334_ChIP-Seq_BJAB-B_Human1.92264603
18MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.78588051
19EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.76467149
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73068465
21RBPJ_22232070_ChIP-Seq_NCS_Mouse1.70935521
22ZNF274_21170338_ChIP-Seq_K562_Hela1.60489623
23CTCF_27219007_Chip-Seq_Bcells_Human1.60486850
24CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.58976966
25CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.55022600
26PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.52873520
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.50074350
28* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.48780680
29ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.46774653
30NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.40588643
31SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.40169466
32TDRD3_21172665_ChIP-Seq_MCF-7_Human1.39157445
33STAT1_20625510_ChIP-Seq_HELA_Human1.38638700
34FOXH1_21741376_ChIP-Seq_ESCs_Human1.37524878
35TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36076459
36SA1_27219007_Chip-Seq_Bcells_Human1.36074930
37PPARA_22158963_ChIP-Seq_LIVER_Mouse1.35645231
38E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.33849965
39DNAJC2_21179169_ChIP-ChIP_NT2_Human1.32090980
40EZH2_22144423_ChIP-Seq_EOC_Human1.30606942
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.28595698
42KDM2B_26808549_Chip-Seq_DND41_Human1.27724528
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26632421
44ESR2_21235772_ChIP-Seq_MCF-7_Human1.25446223
45OCT4_20526341_ChIP-Seq_ESCs_Human1.25422723
46SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.24594931
47DROSHA_22980978_ChIP-Seq_HELA_Human1.23965533
48ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.23476697
49P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22653797
50CBP_20019798_ChIP-Seq_JUKART_Human1.22549271
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22549271
52EP300_21415370_ChIP-Seq_HL-1_Mouse1.22191357
53CTCF_21964334_Chip-Seq_Bcells_Human1.21388414
54SMC1_22415368_ChIP-Seq_MEFs_Mouse1.20331219
55CLOCK_20551151_ChIP-Seq_293T_Human1.16559467
56SMC3_22415368_ChIP-Seq_MEFs_Mouse1.16445322
57GATA4_21415370_ChIP-Seq_HL-1_Mouse1.15994361
58IGF1R_20145208_ChIP-Seq_DFB_Human1.15548556
59YY1_22570637_ChIP-Seq_MALME-3M_Human1.14594135
60STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.14051136
61RARB_27405468_Chip-Seq_BRAIN_Mouse1.13063063
62CTCF_27219007_Chip-Seq_ERYTHROID_Human1.08950346
63CTCF_26484167_Chip-Seq_Bcells_Mouse1.08324025
64SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.08238732
65CRX_20693478_ChIP-Seq_RETINA_Mouse1.08212436
66RXR_22158963_ChIP-Seq_LIVER_Mouse1.08182801
67GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.07800141
68CREB1_26743006_Chip-Seq_LNCaP_Human1.07629147
69TCF7_22412390_ChIP-Seq_EML_Mouse1.07263721
70MYC_27129775_Chip-Seq_CORNEA_Mouse1.06376147
71ESR1_15608294_ChIP-ChIP_MCF-7_Human1.03861242
72SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03016032
73CBX2_27304074_Chip-Seq_ESCs_Mouse1.02761950
74NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.02499844
75EZH2_27294783_Chip-Seq_NPCs_Mouse0.99327636
76SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98613432
77RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98273146
78ELF1_20517297_ChIP-Seq_JURKAT_Human0.98156318
79OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98113118
80PCGF2_27294783_Chip-Seq_ESCs_Mouse0.97815621
81CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97684914
82CEBPB_22108803_ChIP-Seq_LS180_Human0.97354842
83SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.96466281
84NFIB_24661679_ChIP-Seq_LUNG_Mouse0.95893887
85P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95825461
86LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95502438
87GATA1_19941827_ChIP-Seq_MEL_Mouse0.94744363
88MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.94454399
89LXR_22158963_ChIP-Seq_LIVER_Mouse0.94353117
90FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.93194720
91ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93071782
92GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.92901760
93UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.92504871
94NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.91966957
95P68_20966046_ChIP-Seq_HELA_Human0.91890772
96SPI1_20517297_ChIP-Seq_HL60_Human0.91431072
97ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90912469
98LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.89957921
99FLI1_27457419_Chip-Seq_LIVER_Mouse0.89631437
100FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.89357047
101RACK7_27058665_Chip-Seq_MCF-7_Human0.88907497
102E2F1_20622854_ChIP-Seq_HELA_Human0.88142160
103EZH2_27294783_Chip-Seq_ESCs_Mouse0.88028463
104AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87197715
105LXR_22292898_ChIP-Seq_THP-1_Human0.86819458
106NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86371429
107NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86371429
108* NANOG_20526341_ChIP-Seq_ESCs_Human0.86259770
109KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86013876
110* RAC3_21632823_ChIP-Seq_H3396_Human0.85360047
111BCL6_27268052_Chip-Seq_Bcells_Human0.84852323
112OCT1_27270436_Chip-Seq_PROSTATE_Human0.84107336
113MAF_26560356_Chip-Seq_TH1_Human0.83532237
114ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.83008375
115PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.82786877
116TP53_20018659_ChIP-ChIP_R1E_Mouse0.82477015
117WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.82468843
118STAT3_1855785_ChIP-Seq_MESCs_Mouse0.82211180
119GBX2_23144817_ChIP-Seq_PC3_Human0.82204232
120KDM2B_26808549_Chip-Seq_SUP-B15_Human0.81261088
121KLF4_19829295_ChIP-Seq_ESCs_Human0.80962623
122SOX2_21211035_ChIP-Seq_LN229_Gbm0.80456565
123P300_27058665_Chip-Seq_ZR-75-30cells_Human0.80394976
124PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.79308704
125HTT_18923047_ChIP-ChIP_STHdh_Human0.78440308
126TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.78259698
127P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.78239713
128AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.78093656
129ATF3_27146783_Chip-Seq_COLON_Human0.78047538
130LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.77444068
131KLF5_20875108_ChIP-Seq_MESCs_Mouse0.77405151
132DPY_21335234_ChIP-Seq_ESCs_Mouse0.75141886
133CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.75014077
134EGR1_19032775_ChIP-ChIP_M12_Human0.74763781
135EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.72480943
136* GATA6_21074721_ChIP-Seq_CACO-2_Human0.72290564
137GATA1_19941827_ChIP-Seq_MEL86_Mouse0.69720890
138SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.69023752
139STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.67791525
140NANOG_19829295_ChIP-Seq_ESCs_Human0.67413399
141SOX2_19829295_ChIP-Seq_ESCs_Human0.67413399
142SMAD3_21741376_ChIP-Seq_HESCs_Human0.66156020
143GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.66133221

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.52726981
2MP0003646_muscle_fatigue6.59690294
3MP0000749_muscle_degeneration6.49153189
4MP0000751_myopathy5.57786838
5MP0000747_muscle_weakness4.55136847
6MP0002106_abnormal_muscle_physiology4.33127314
7MP0004036_abnormal_muscle_relaxation4.09003501
8MP0000759_abnormal_skeletal_muscle3.91052112
9MP0002269_muscular_atrophy3.70272014
10MP0005369_muscle_phenotype3.60046414
11MP0004130_abnormal_muscle_cell3.40893230
12MP0004087_abnormal_muscle_fiber3.39451534
13MP0002837_dystrophic_cardiac_calcinosis3.23485222
14MP0000750_abnormal_muscle_regeneration3.17934087
15MP0005620_abnormal_muscle_contractility3.17700334
16MP0004233_abnormal_muscle_weight2.72801635
17MP0000733_abnormal_muscle_development2.37439061
18MP0002332_abnormal_exercise_endurance2.25034401
19MP0002108_abnormal_muscle_morphology2.06663393
20MP0006036_abnormal_mitochondrial_physio1.94156728
21MP0005330_cardiomyopathy1.74896016
22MP0004185_abnormal_adipocyte_glucose1.73001786
23MP0002971_abnormal_brown_adipose1.42291431
24MP0005666_abnormal_adipose_tissue1.39403837
25MP0003806_abnormal_nucleotide_metabolis1.39361293
26MP0004084_abnormal_cardiac_muscle1.37589499
27MP0004270_analgesia1.36157932
28MP0003221_abnormal_cardiomyocyte_apopto1.16255289
29MP0002972_abnormal_cardiac_muscle1.14331456
30MP0004484_altered_response_of1.14277868
31MP0004215_abnormal_myocardial_fiber1.13455364
32MP0001661_extended_life_span1.12336896
33MP0010630_abnormal_cardiac_muscle1.09048758
34MP0006035_abnormal_mitochondrial_morpho1.07009960
35MP0005266_abnormal_metabolism1.06758134
36MP0005375_adipose_tissue_phenotype1.03163731
37MP0004134_abnormal_chest_morphology0.97778715
38MP0000013_abnormal_adipose_tissue0.96157552
39MP0003656_abnormal_erythrocyte_physiolo0.89324383
40MP0004147_increased_porphyrin_level0.86123769
41MP0003950_abnormal_plasma_membrane0.80630007
42MP0001544_abnormal_cardiovascular_syste0.77474543
43MP0005385_cardiovascular_system_phenoty0.77474543
44MP0000372_irregular_coat_pigmentation0.77297861
45MP0003705_abnormal_hypodermis_morpholog0.73730195
46MP0009780_abnormal_chondrocyte_physiolo0.72405817
47MP0009250_abnormal_appendicular_skeleto0.70805843
48MP0008961_abnormal_basal_metabolism0.70217216
49MP0005334_abnormal_fat_pad0.67572948
50MP0004043_abnormal_pH_regulation0.67034225
51MP0003879_abnormal_hair_cell0.66932825
52MP0001299_abnormal_eye_distance/0.66694265
53MP0002078_abnormal_glucose_homeostasis0.64730569
54MP0003137_abnormal_impulse_conducting0.64119992
55MP0005083_abnormal_biliary_tract0.62461047
56MP0005670_abnormal_white_adipose0.56037122
57MP0000003_abnormal_adipose_tissue0.53701161
58MP0002234_abnormal_pharynx_morphology0.52075967
59MP0000762_abnormal_tongue_morphology0.51714737
60MP0005584_abnormal_enzyme/coenzyme_acti0.51086689
61MP0003959_abnormal_lean_body0.49410290
62MP0000343_altered_response_to0.49327992
63MP0000266_abnormal_heart_morphology0.48971666
64MP0005452_abnormal_adipose_tissue0.48411166
65MP0005275_abnormal_skin_tensile0.47450985
66MP0002089_abnormal_postnatal_growth/wei0.47428995
67MP0004142_abnormal_muscle_tone0.44580366
68MP0002127_abnormal_cardiovascular_syste0.44239688
69MP0008569_lethality_at_weaning0.44135626
70MP0005167_abnormal_blood-brain_barrier0.43677219
71MP0003045_fibrosis0.42884974
72MP0001346_abnormal_lacrimal_gland0.42721456
73MP0002638_abnormal_pupillary_reflex0.42301748
74MP0010030_abnormal_orbit_morphology0.42131465
75MP0008775_abnormal_heart_ventricle0.41854340
76MP0002896_abnormal_bone_mineralization0.39949814
77MP0009672_abnormal_birth_weight0.37796957
78MP0005319_abnormal_enzyme/_coenzyme0.35620174
79MP0001849_ear_inflammation0.34074840
80MP0002114_abnormal_axial_skeleton0.33168136
81MP0009115_abnormal_fat_cell0.31767438
82MP0002734_abnormal_mechanical_nocicepti0.31009419
83MP0003948_abnormal_gas_homeostasis0.30185505
84MP0005332_abnormal_amino_acid0.28012867
85MP0004510_myositis0.27410072
86MP0005376_homeostasis/metabolism_phenot0.26918723
87MP0003195_calcinosis0.26399911
88MP0005423_abnormal_somatic_nervous0.26073911
89MP0000230_abnormal_systemic_arterial0.25902577
90MP0005535_abnormal_body_temperature0.25889986
91MP0005187_abnormal_penis_morphology0.25487632
92MP0002118_abnormal_lipid_homeostasis0.25279737
93MP0001853_heart_inflammation0.25119956
94MP0001243_abnormal_dermal_layer0.24520227
95MP0005165_increased_susceptibility_to0.24488369
96MP0002139_abnormal_hepatobiliary_system0.22749147
97MP0000383_abnormal_hair_follicle0.22304864
98MP0008770_decreased_survivor_rate0.22062631
99MP0006138_congestive_heart_failure0.21640745
100MP0005166_decreased_susceptibility_to0.21090382
101MP0002876_abnormal_thyroid_physiology0.20537562
102MP0001943_abnormal_respiration0.20343715
103MP0005503_abnormal_tendon_morphology0.19193437
104MP0002822_catalepsy0.19104226
105MP0004858_abnormal_nervous_system0.18877281
106MP0005076_abnormal_cell_differentiation0.18492667
107MP0002066_abnormal_motor_capabilities/c0.18135466
108MP0005451_abnormal_body_composition0.17869196
109MP0004085_abnormal_heartbeat0.17427393
110MP0003828_pulmonary_edema0.16887582
111MP0002128_abnormal_blood_circulation0.16572063
112MP0003567_abnormal_fetal_cardiomyocyte0.16005304
113MP0002970_abnormal_white_adipose0.15988945
114MP0006276_abnormal_autonomic_nervous0.15474881
115MP0005645_abnormal_hypothalamus_physiol0.14953850
116MP0002067_abnormal_sensory_capabilities0.14730764
117MP0003956_abnormal_body_size0.14374921
118MP0003941_abnormal_skin_development0.12767386
119MP0004197_abnormal_fetal_growth/weight/0.12548658
120MP0004924_abnormal_behavior0.11853534

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.69233248
2Nemaline bodies (HP:0003798)9.13496783
3Exercise-induced myalgia (HP:0003738)9.07309760
4Distal arthrogryposis (HP:0005684)7.44206111
5Type 1 muscle fiber predominance (HP:0003803)7.34953679
6Muscle hypertrophy of the lower extremities (HP:0008968)7.21538489
7Myopathic facies (HP:0002058)6.97629989
8Round ear (HP:0100830)6.37006632
9* Exercise-induced muscle cramps (HP:0003710)6.29994743
10Ulnar deviation of the wrist (HP:0003049)6.28999375
11Calf muscle hypertrophy (HP:0008981)6.25376538
12Difficulty running (HP:0009046)5.61106967
13Calcaneovalgus deformity (HP:0001848)5.47924836
14Myoglobinuria (HP:0002913)5.41427969
15Muscle fiber splitting (HP:0003555)5.14592306
16Absent phalangeal crease (HP:0006109)5.13059685
17Muscle stiffness (HP:0003552)5.09918219
18Deformed tarsal bones (HP:0008119)5.01945499
19Hyporeflexia of lower limbs (HP:0002600)4.70558085
20EMG: myopathic abnormalities (HP:0003458)4.56943217
21Increased connective tissue (HP:0009025)4.38926285
22Myotonia (HP:0002486)4.34006996
23Abnormal finger flexion creases (HP:0006143)4.29774540
24Abnormality of the calf musculature (HP:0001430)4.04476792
25Abnormality of skeletal muscle fiber size (HP:0012084)3.80072559
26Malignant hyperthermia (HP:0002047)3.71437816
27Subaortic stenosis (HP:0001682)3.69761681
28Abnormality of the left ventricular outflow tract (HP:0011103)3.69761681
29Rimmed vacuoles (HP:0003805)3.52433217
30* Rhabdomyolysis (HP:0003201)3.49546392
31Pelvic girdle muscle weakness (HP:0003749)3.45206206
32Shoulder girdle muscle weakness (HP:0003547)3.45184923
33Neck muscle weakness (HP:0000467)3.44735956
34Difficulty climbing stairs (HP:0003551)3.37583742
35Increased variability in muscle fiber diameter (HP:0003557)3.36249127
36Abnormality of the musculature of the pelvis (HP:0001469)3.33306033
37Abnormality of the hip-girdle musculature (HP:0001445)3.33306033
38Abnormality of the calcaneus (HP:0008364)3.31954063
39Frequent falls (HP:0002359)3.22289395
40Hyperkalemia (HP:0002153)3.21871364
41Areflexia of lower limbs (HP:0002522)3.17294200
42Asymmetric septal hypertrophy (HP:0001670)2.93269442
43Bundle branch block (HP:0011710)2.91226205
44Paralysis (HP:0003470)2.76165133
45Slender build (HP:0001533)2.65664507
46Abnormality of the neuromuscular junction (HP:0003398)2.63848952
47Fatigable weakness (HP:0003473)2.63848952
48EMG: neuropathic changes (HP:0003445)2.46430069
49Distal lower limb muscle weakness (HP:0009053)2.45062109
50Sudden death (HP:0001699)2.43777925
51Dilated cardiomyopathy (HP:0001644)2.40904735
52Muscular dystrophy (HP:0003560)2.39696707
53Limb-girdle muscle weakness (HP:0003325)2.33229409
54Hypoplastic ischia (HP:0003175)2.29059275
55Proximal amyotrophy (HP:0007126)2.26096611
56Nonprogressive disorder (HP:0003680)2.23168366
57Generalized muscle weakness (HP:0003324)2.20353357
58Bulbar palsy (HP:0001283)2.17309200
59Mildly elevated creatine phosphokinase (HP:0008180)2.16126180
60Metatarsus adductus (HP:0001840)2.11780813
61Ulnar deviation of finger (HP:0009465)2.11619508
62Centrally nucleated skeletal muscle fibers (HP:0003687)2.10660789
63Lipoatrophy (HP:0100578)2.09543829
64Abnormality of the shoulder girdle musculature (HP:0001435)2.05331623
65Facial diplegia (HP:0001349)2.01839330
66Spinal rigidity (HP:0003306)2.00813131
67Abnormality of the ischium (HP:0003174)2.00127526
68Muscle fiber inclusion bodies (HP:0100299)10.1279605
69Abnormality of the foot musculature (HP:0001436)1.99726432
70Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.97077387
71Progressive muscle weakness (HP:0003323)1.96724342
72Limb-girdle muscle atrophy (HP:0003797)1.95646741
73Gowers sign (HP:0003391)1.94492222
74Weak cry (HP:0001612)1.93473758
75Scapular winging (HP:0003691)1.91417003
76Distal lower limb amyotrophy (HP:0008944)1.89057734
77Heart block (HP:0012722)1.85199504
78Foot dorsiflexor weakness (HP:0009027)1.83935294
79Achilles tendon contracture (HP:0001771)1.81895865
80Increased density of long bones (HP:0006392)1.80514615
81Stridor (HP:0010307)1.78065096
82Waddling gait (HP:0002515)1.76218638
83Ragged-red muscle fibers (HP:0003200)1.74986531
84Abnormal atrioventricular conduction (HP:0005150)1.73371696
85Increased purine levels (HP:0004368)1.72422682
86Hyperuricemia (HP:0002149)1.72422682
87Tarsal synostosis (HP:0008368)1.67810013
88Short palpebral fissure (HP:0012745)1.66665187
89Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.66387686
90Abnormality of potassium homeostasis (HP:0011042)1.66294617
91Abnormality of the Achilles tendon (HP:0005109)1.66103661
92Cholelithiasis (HP:0001081)1.62840264
93Gout (HP:0001997)1.62645625
94Fetal akinesia sequence (HP:0001989)1.61987938
95Popliteal pterygium (HP:0009756)1.60177098
96Ventricular tachycardia (HP:0004756)1.59430299
97Oligomenorrhea (HP:0000876)1.53640875
98Type 2 muscle fiber atrophy (HP:0003554)1.53614807
99Increased intramyocellular lipid droplets (HP:0012240)1.53040677
100Synostosis involving bones of the feet (HP:0009140)1.51283247
101Synostosis involving bones of the lower limbs (HP:0009138)1.51283247
102Hip contracture (HP:0003273)1.50777334
103Ventricular arrhythmia (HP:0004308)1.49527168
104Adducted thumb (HP:0001181)1.48453047
105Respiratory insufficiency due to muscle weakness (HP:0002747)1.47298110
106Long clavicles (HP:0000890)1.44969123
107Limited hip movement (HP:0008800)1.44795267
108Exercise intolerance (HP:0003546)1.44459052
109Congenital hip dislocation (HP:0001374)1.44247257
110Abnormal gallbladder morphology (HP:0012437)1.44075923
111Hypokalemia (HP:0002900)1.43772564
112Increased muscle lipid content (HP:0009058)1.42351969
113Muscle fiber atrophy (HP:0100295)1.41754072
114Toxemia of pregnancy (HP:0100603)1.41180591
115Lower limb amyotrophy (HP:0007210)1.38313967
116Steppage gait (HP:0003376)1.35817664
117Insulin-resistant diabetes mellitus (HP:0000831)1.30543114

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.48177986
2TTN6.40359608
3PHKG15.88284903
4PHKG25.88284903
5NME14.53452655
6PIK3CG3.55825637
7MAP2K33.09734172
8NEK12.25825350
9MAP3K72.25350449
10PINK12.17156321
11PDK41.83085903
12PDK31.83085903
13MAP2K41.74293860
14MAPK121.70119209
15PIK3CA1.69401928
16DMPK1.68956787
17TRIB31.56102878
18BCKDK1.53771447
19MAP2K61.53675976
20PDK21.22523971
21MUSK1.14840654
22PRKAA20.97053233
23MARK10.96381150
24NEK90.95179537
25PRKAA10.88044974
26MAP3K30.81046227
27TAOK20.79078233
28ERBB30.79022389
29TRPM70.76923340
30MAPKAPK30.73198592
31STK240.73185454
32MAP3K130.70335457
33MAPK110.64082936
34CAMK40.58066729
35ZAK0.57172866
36CAMK2G0.55746116
37AKT20.52144407
38MAP3K110.51687788
39PKN20.50147256
40EPHB10.48507845
41SIK10.47697847
42TAOK10.47474066
43CAMK10.40964847
44CAMK2B0.40332651
45EEF2K0.39990091
46RIPK10.39509269
47CAMK2A0.38434357
48MAP3K60.37672974
49PTK60.36380840
50ILK0.35928438
51LIMK10.33203944
52TBK10.33029099
53SGK20.32845961
54SGK10.32234245
55PKN10.30380524
56MAP3K50.28099865
57PRKACB0.26015351
58PRKG10.25218473
59RPS6KA30.25071790
60MAPK70.24618439
61KSR20.24542583
62MAP3K10.24393629
63MAPK130.24313668
64MAP3K100.23382731
65TYK20.21310401
66PRPF4B0.20820504
67MAPK40.20494686
68RPS6KB20.19813871
69MARK20.18173570
70PRKACA0.17289692
71ARAF0.16579215
72DAPK20.16578262
73CDK190.16351892
74CAMK1G0.16276246
75PDK10.13273810
76PDPK10.13233057
77PAK60.13139169
78SGK4940.13103837
79SGK2230.13103837
80ROCK10.11737431
81TIE10.11692623
82INSRR0.11503170
83RAF10.11393752
84RPS6KC10.11164735
85RPS6KL10.11164735
86ZAP700.10309650
87PRKD10.09237391
88MAP2K10.08915720
89DYRK1B0.08334964
90RPS6KA60.08079524
91TGFBR20.07978320
92NLK0.06974358
93RPS6KA10.06854022
94MOS0.06275472
95SGK30.06022625
96JAK20.05448048
97LRRK20.05403608
98ICK0.04979027
99BMX0.04860695
100BRAF0.04489751
101PRKACG0.04438316
102MAPK100.04201820
103FGFR30.03941030
104STK110.02464796
105GSK3B0.02353735
106CAMK2D0.02142243
107MAPK80.01947599
108MTOR0.01880058
109MAPK30.01758587
110CSNK1D0.01582090
111LATS10.01521222
112EPHA30.01297913
113FGFR10.01180387
114GSK3A0.00982927
115PNCK0.00741554
116CCNB10.00327742
117MARK3-0.0361396
118MAP3K8-0.0313701
119HCK-0.0296802
120PRKCH-0.0294704
121RPS6KB1-0.0230955
122PTK2B-0.0196181
123MAPK9-0.0170964
124PRKDC-0.0151106
125MAP3K4-0.0127191
126RPS6KA2-0.0122407
127KSR1-0.0070485
128LATS2-0.0005631

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.30289077
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.10576517
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.74911824
4Cardiac muscle contraction_Homo sapiens_hsa042603.56028149
5Dilated cardiomyopathy_Homo sapiens_hsa054143.32481569
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.25231968
7Starch and sucrose metabolism_Homo sapiens_hsa005003.24693421
8Circadian rhythm_Homo sapiens_hsa047102.73885562
9Glucagon signaling pathway_Homo sapiens_hsa049222.55577425
10Oxytocin signaling pathway_Homo sapiens_hsa049212.40845218
11Insulin signaling pathway_Homo sapiens_hsa049102.39518681
12Propanoate metabolism_Homo sapiens_hsa006402.36090766
13Insulin resistance_Homo sapiens_hsa049312.24572867
14Carbon metabolism_Homo sapiens_hsa012002.18072539
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.09853379
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.03703894
17Adipocytokine signaling pathway_Homo sapiens_hsa049201.90476680
18Galactose metabolism_Homo sapiens_hsa000521.88108246
19AMPK signaling pathway_Homo sapiens_hsa041521.82036819
20Calcium signaling pathway_Homo sapiens_hsa040201.79831735
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71193415
22Fructose and mannose metabolism_Homo sapiens_hsa000511.66852120
23Parkinsons disease_Homo sapiens_hsa050121.62910888
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.58295997
25Alzheimers disease_Homo sapiens_hsa050101.56349061
26Biosynthesis of amino acids_Homo sapiens_hsa012301.52115084
27Viral myocarditis_Homo sapiens_hsa054161.47043729
28Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.42411359
29Pyruvate metabolism_Homo sapiens_hsa006201.42145531
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.36863041
31Arginine and proline metabolism_Homo sapiens_hsa003301.35800952
32Oxidative phosphorylation_Homo sapiens_hsa001901.33564729
33Fatty acid degradation_Homo sapiens_hsa000711.28957576
34Pentose phosphate pathway_Homo sapiens_hsa000301.27114844
35Tight junction_Homo sapiens_hsa045301.25017756
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.22077530
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.18948461
38Vascular smooth muscle contraction_Homo sapiens_hsa042701.07874567
39FoxO signaling pathway_Homo sapiens_hsa040681.06710273
40Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04002834
41Gastric acid secretion_Homo sapiens_hsa049711.01253098
42GnRH signaling pathway_Homo sapiens_hsa049120.97479606
43Focal adhesion_Homo sapiens_hsa045100.94521301
44Longevity regulating pathway - mammal_Homo sapiens_hsa042110.91946594
45Fatty acid metabolism_Homo sapiens_hsa012120.89457154
46Arginine biosynthesis_Homo sapiens_hsa002200.86534113
47Central carbon metabolism in cancer_Homo sapiens_hsa052300.84720564
48mTOR signaling pathway_Homo sapiens_hsa041500.74070076
49HIF-1 signaling pathway_Homo sapiens_hsa040660.70649101
50MAPK signaling pathway_Homo sapiens_hsa040100.70433274
51VEGF signaling pathway_Homo sapiens_hsa043700.70267942
52Renin secretion_Homo sapiens_hsa049240.62008385
53Huntingtons disease_Homo sapiens_hsa050160.60776959
54Platelet activation_Homo sapiens_hsa046110.58941110
55Fatty acid biosynthesis_Homo sapiens_hsa000610.58280165
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.57056008
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51901556
58PPAR signaling pathway_Homo sapiens_hsa033200.49789284
59Leukocyte transendothelial migration_Homo sapiens_hsa046700.49732057
60Insulin secretion_Homo sapiens_hsa049110.47266837
61Type II diabetes mellitus_Homo sapiens_hsa049300.46579122
62Regulation of actin cytoskeleton_Homo sapiens_hsa048100.43069087
63beta-Alanine metabolism_Homo sapiens_hsa004100.42724666
64Salivary secretion_Homo sapiens_hsa049700.41643968
65Fatty acid elongation_Homo sapiens_hsa000620.41039643
66Adherens junction_Homo sapiens_hsa045200.36678934
67Amoebiasis_Homo sapiens_hsa051460.34567298
68Lysine degradation_Homo sapiens_hsa003100.34411401
69Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32806395
70Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.32402566
71Butanoate metabolism_Homo sapiens_hsa006500.31847273
72Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29736128
73Proteoglycans in cancer_Homo sapiens_hsa052050.26442735
74Histidine metabolism_Homo sapiens_hsa003400.26161828
75Long-term depression_Homo sapiens_hsa047300.25465079
76Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.24871309
77Renal cell carcinoma_Homo sapiens_hsa052110.24297877
78Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.23997432
79Glioma_Homo sapiens_hsa052140.22411388
80Nitrogen metabolism_Homo sapiens_hsa009100.21312121
81cAMP signaling pathway_Homo sapiens_hsa040240.20521540
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.20362513
83AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.19404724
84Amphetamine addiction_Homo sapiens_hsa050310.18770947
85Cholinergic synapse_Homo sapiens_hsa047250.18077418
86Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.17259978
87Tyrosine metabolism_Homo sapiens_hsa003500.17076609
88Thyroid cancer_Homo sapiens_hsa052160.16224565
89Prolactin signaling pathway_Homo sapiens_hsa049170.16100137
90Peroxisome_Homo sapiens_hsa041460.15676613
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.13386219
92Regulation of autophagy_Homo sapiens_hsa041400.13370028
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.13106440
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.13010850
95ABC transporters_Homo sapiens_hsa020100.12833333
96Sulfur metabolism_Homo sapiens_hsa009200.11829069
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.10457924
98Melanogenesis_Homo sapiens_hsa049160.09917983
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.08084089
100Sulfur relay system_Homo sapiens_hsa041220.08081284
101Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.08017684
102Oocyte meiosis_Homo sapiens_hsa041140.07567840
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.06687291
104Pancreatic secretion_Homo sapiens_hsa049720.05987162
105Olfactory transduction_Homo sapiens_hsa047400.05800129
106Long-term potentiation_Homo sapiens_hsa047200.05600180
107Phenylalanine metabolism_Homo sapiens_hsa003600.05101350
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.04383327
109Leishmaniasis_Homo sapiens_hsa051400.04058551
110* Metabolic pathways_Homo sapiens_hsa011000.03761560
111Acute myeloid leukemia_Homo sapiens_hsa052210.03205493
112Circadian entrainment_Homo sapiens_hsa047130.02997604
113Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.02261638
114Bile secretion_Homo sapiens_hsa049760.02095753
115Tryptophan metabolism_Homo sapiens_hsa003800.01940848
116Legionellosis_Homo sapiens_hsa051340.01142260
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.00985306

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