NEU2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.73122605
2synaptic vesicle docking involved in exocytosis (GO:0016081)4.18820311
3cell aggregation (GO:0098743)4.17133498
4cartilage condensation (GO:0001502)4.17133498
5regulation of skeletal muscle contraction (GO:0014819)3.93163843
6cellular glucuronidation (GO:0052695)3.90674128
7uronic acid metabolic process (GO:0006063)3.54423864
8glucuronate metabolic process (GO:0019585)3.54423864
9glutamate secretion (GO:0014047)3.46666076
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.41373212
11L-phenylalanine catabolic process (GO:0006559)3.41373212
12muscle filament sliding (GO:0030049)3.39191383
13actin-myosin filament sliding (GO:0033275)3.39191383
14chondrocyte development (GO:0002063)3.38198718
15pyrimidine ribonucleoside catabolic process (GO:0046133)3.37885457
16protein retention in ER lumen (GO:0006621)3.32019626
17skeletal muscle fiber development (GO:0048741)3.28475881
18oxaloacetate metabolic process (GO:0006107)3.26945351
19skeletal muscle contraction (GO:0003009)3.20363868
20regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.15984427
21sensory perception of smell (GO:0007608)3.09318507
22L-phenylalanine metabolic process (GO:0006558)3.08996108
23erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.08996108
24actin-mediated cell contraction (GO:0070252)3.05430111
25intestinal cholesterol absorption (GO:0030299)3.04554341
26positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.03760479
27maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.03316227
28cysteine metabolic process (GO:0006534)3.03141761
29sarcoplasmic reticulum calcium ion transport (GO:0070296)3.02093781
30cytidine deamination (GO:0009972)3.01632511
31cytidine metabolic process (GO:0046087)3.01632511
32cytidine catabolic process (GO:0006216)3.01632511
33aspartate family amino acid catabolic process (GO:0009068)3.00315457
34NADH metabolic process (GO:0006734)2.96603515
35regulation of cell communication by electrical coupling (GO:0010649)2.92362832
36notochord development (GO:0030903)2.90112441
37lysine catabolic process (GO:0006554)2.89658087
38lysine metabolic process (GO:0006553)2.89658087
39limb bud formation (GO:0060174)2.88933532
40regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.86377511
41aromatic amino acid family catabolic process (GO:0009074)2.86021083
42behavioral response to cocaine (GO:0048148)2.85707429
43myotube cell development (GO:0014904)2.85166802
44response to gravity (GO:0009629)2.83114539
45neurotransmitter-gated ion channel clustering (GO:0072578)2.77404577
46coenzyme catabolic process (GO:0009109)2.74580111
47presynaptic membrane assembly (GO:0097105)2.74359465
48regulation of acyl-CoA biosynthetic process (GO:0050812)2.73612920
49myotube differentiation (GO:0014902)2.72623009
50positive regulation of extracellular matrix organization (GO:1903055)2.69537696
51positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.66373443
52presynaptic membrane organization (GO:0097090)2.63729093
53negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.63652536
54synaptic vesicle exocytosis (GO:0016079)2.59386141
55regulation of glutamate receptor signaling pathway (GO:1900449)2.56075994
56neuronal action potential propagation (GO:0019227)2.52730251
57homocysteine metabolic process (GO:0050667)2.52408039
58regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.51019514
59regulation of plasminogen activation (GO:0010755)2.50889694
60nucleotide-sugar biosynthetic process (GO:0009226)2.50757878
61drug catabolic process (GO:0042737)2.47104899
62regulation of skeletal muscle cell differentiation (GO:2001014)2.45660835
63regulation of synaptic vesicle exocytosis (GO:2000300)2.45601087
64exogenous drug catabolic process (GO:0042738)2.45352201
65cellular modified amino acid catabolic process (GO:0042219)2.44873478
66neuron cell-cell adhesion (GO:0007158)2.44854153
67type B pancreatic cell proliferation (GO:0044342)2.43486292
68regulation of cofactor metabolic process (GO:0051193)2.42676174
69regulation of coenzyme metabolic process (GO:0051196)2.42676174
70glycogen biosynthetic process (GO:0005978)2.41826347
71glucan biosynthetic process (GO:0009250)2.41826347
72indole-containing compound catabolic process (GO:0042436)2.41619633
73indolalkylamine catabolic process (GO:0046218)2.41619633
74tryptophan catabolic process (GO:0006569)2.41619633
75cardiac conduction (GO:0061337)2.39829240
763-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.39338433
77purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.39338433
78negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.39076115
79regulation of sodium ion transmembrane transporter activity (GO:2000649)2.37947725
80plasma membrane repair (GO:0001778)2.36514988
81dicarboxylic acid biosynthetic process (GO:0043650)2.35058651
82glycogen catabolic process (GO:0005980)2.34654030
83positive regulation of cardiac muscle hypertrophy (GO:0010613)2.34315663
84positive regulation of muscle hypertrophy (GO:0014742)2.34315663
85positive regulation of vesicle fusion (GO:0031340)2.33193644
86actin filament-based movement (GO:0030048)2.30747848
87glutamate metabolic process (GO:0006536)2.30708640
88mitochondrion distribution (GO:0048311)2.29598819
89regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.28364142
90exocrine pancreas development (GO:0031017)2.28062556
91vocalization behavior (GO:0071625)2.27924590
92membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.27474741
93kynurenine metabolic process (GO:0070189)2.26836884
94pyrimidine nucleoside catabolic process (GO:0046135)2.26223871
95bile acid biosynthetic process (GO:0006699)2.25730764
96detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.25436754
97striated muscle contraction (GO:0006941)2.24400771
98keratan sulfate catabolic process (GO:0042340)2.24121917
99dicarboxylic acid catabolic process (GO:0043649)2.23328609
100digestion (GO:0007586)2.23157425

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.18153624
2GBX2_23144817_ChIP-Seq_PC3_Human2.98280987
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.69804862
4AR_21572438_ChIP-Seq_LNCaP_Human2.55628507
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.22761589
6TAF15_26573619_Chip-Seq_HEK293_Human2.18374365
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.06363126
8RXR_22158963_ChIP-Seq_LIVER_Mouse2.03537317
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.03363850
10SMAD_19615063_ChIP-ChIP_OVARY_Human1.97718079
11TRIM28_21343339_ChIP-Seq_HEK293_Human1.94863965
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.88920883
13EZH2_18974828_ChIP-Seq_MESCs_Mouse1.88182854
14RNF2_18974828_ChIP-Seq_MESCs_Mouse1.88182854
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.87707857
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.86399688
17FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.85617061
18JARID2_20064375_ChIP-Seq_MESCs_Mouse1.84734834
19EED_16625203_ChIP-ChIP_MESCs_Mouse1.80989633
20JARID2_20075857_ChIP-Seq_MESCs_Mouse1.79493018
21LXR_22158963_ChIP-Seq_LIVER_Mouse1.79248431
22EZH2_27304074_Chip-Seq_ESCs_Mouse1.78043622
23MTF2_20144788_ChIP-Seq_MESCs_Mouse1.71950143
24SUZ12_27294783_Chip-Seq_ESCs_Mouse1.67160179
25SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.65870153
26ESR1_21235772_ChIP-Seq_MCF-7_Human1.63367129
27TP63_17297297_ChIP-ChIP_HaCaT_Human1.62466259
28PPARA_22158963_ChIP-Seq_LIVER_Mouse1.59019666
29NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.58328336
30DROSHA_22980978_ChIP-Seq_HELA_Human1.53078959
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.51238844
32PIAS1_25552417_ChIP-Seq_VCAP_Human1.50513455
33EZH2_27294783_Chip-Seq_ESCs_Mouse1.49904972
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.49538447
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.48365592
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.48173762
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44400522
38GATA1_22025678_ChIP-Seq_K562_Human1.41811421
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.39137041
40GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.38413335
41TP53_18474530_ChIP-ChIP_U2OS_Human1.35067767
42ZNF217_24962896_ChIP-Seq_MCF-7_Human1.34623895
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.31104015
44RXR_22108803_ChIP-Seq_LS180_Human1.29316777
45GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27170254
46RNF2_27304074_Chip-Seq_ESCs_Mouse1.26822426
47ESR1_20079471_ChIP-ChIP_T-47D_Human1.22063392
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20737883
49P300_19829295_ChIP-Seq_ESCs_Human1.20646847
50* SMAD3_21741376_ChIP-Seq_EPCs_Human1.20350869
51REST_21632747_ChIP-Seq_MESCs_Mouse1.17988379
52* RARB_27405468_Chip-Seq_BRAIN_Mouse1.17242349
53* NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.17171291
54SMAD4_21799915_ChIP-Seq_A2780_Human1.16860101
55VDR_22108803_ChIP-Seq_LS180_Human1.15852269
56ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14783934
57ARNT_22903824_ChIP-Seq_MCF-7_Human1.13398237
58P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12221869
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.11528984
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10318070
61CBX2_27304074_Chip-Seq_ESCs_Mouse1.10168217
62SOX2_21211035_ChIP-Seq_LN229_Gbm1.08791046
63NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08608450
64NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08608450
65AHR_22903824_ChIP-Seq_MCF-7_Human1.07354381
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.05433934
67BCAT_22108803_ChIP-Seq_LS180_Human1.05330994
68DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04001734
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01323139
70PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.99549295
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99052757
72SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.97851280
73REST_18959480_ChIP-ChIP_MESCs_Mouse0.97442158
74PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.97148837
75PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.96326409
76MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95984101
77SMAD4_21741376_ChIP-Seq_EPCs_Human0.94714230
78BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.92880719
79EGR1_23403033_ChIP-Seq_LIVER_Mouse0.92564022
80OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92426190
81CTCF_27219007_Chip-Seq_Bcells_Human0.91814930
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.91600320
83NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91258293
84TCF4_22108803_ChIP-Seq_LS180_Human0.89493160
85SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89426613
86CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89199891
87FOXM1_26456572_ChIP-Seq_MCF-7_Human0.87948260
88AR_25329375_ChIP-Seq_VCAP_Human0.87782756
89* P53_22387025_ChIP-Seq_ESCs_Mouse0.86973897
90FLI1_27457419_Chip-Seq_LIVER_Mouse0.85330697
91RARG_19884340_ChIP-ChIP_MEFs_Mouse0.84165990
92NANOG_18555785_Chip-Seq_ESCs_Mouse0.83633530
93CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.83376254
94PRDM14_20953172_ChIP-Seq_ESCs_Human0.83260018
95RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.83199478
96ER_23166858_ChIP-Seq_MCF-7_Human0.82277485
97STAT3_23295773_ChIP-Seq_U87_Human0.81540106
98PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.81463271
99PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.79889113
100CBP_20019798_ChIP-Seq_JUKART_Human0.79829829

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue3.92096717
2MP0002139_abnormal_hepatobiliary_system3.75019407
3MP0004145_abnormal_muscle_electrophysio3.16433831
4MP0000751_myopathy3.02622787
5MP0005365_abnormal_bile_salt2.96743591
6MP0005360_urolithiasis2.92937282
7MP0000749_muscle_degeneration2.78218052
8MP0002837_dystrophic_cardiac_calcinosis2.61135560
9MP0001984_abnormal_olfaction2.54547237
10MP0003195_calcinosis2.51745707
11MP0005085_abnormal_gallbladder_physiolo2.48600960
12MP0003806_abnormal_nucleotide_metabolis2.41774966
13MP0004270_analgesia2.26390479
14MP0009780_abnormal_chondrocyte_physiolo2.21308552
15MP0005083_abnormal_biliary_tract1.99365576
16MP0000747_muscle_weakness1.96528865
17MP0003880_abnormal_central_pattern1.95169305
18MP0004036_abnormal_muscle_relaxation1.89465183
19MP0008004_abnormal_stomach_pH1.85205258
20MP0008875_abnormal_xenobiotic_pharmacok1.84648866
21MP0004134_abnormal_chest_morphology1.76853924
22MP0004859_abnormal_synaptic_plasticity1.74207015
23MP0001666_abnormal_nutrient_absorption1.72680306
24MP0002933_joint_inflammation1.70703743
25MP0002734_abnormal_mechanical_nocicepti1.69353221
26MP0002282_abnormal_trachea_morphology1.62349482
27MP0002736_abnormal_nociception_after1.58547440
28MP0001968_abnormal_touch/_nociception1.52151728
29MP0000762_abnormal_tongue_morphology1.51498925
30MP0003635_abnormal_synaptic_transmissio1.50978922
31MP0004130_abnormal_muscle_cell1.50262484
32MP0010329_abnormal_lipoprotein_level1.46517696
33MP0005646_abnormal_pituitary_gland1.46092403
34MP0000163_abnormal_cartilage_morphology1.45873958
35MP0002896_abnormal_bone_mineralization1.44076050
36MP0000759_abnormal_skeletal_muscle1.44049837
37MP0002909_abnormal_adrenal_gland1.43968906
38MP0003879_abnormal_hair_cell1.40470949
39MP0002106_abnormal_muscle_physiology1.40259352
40MP0009745_abnormal_behavioral_response1.36263201
41MP0002064_seizures1.36221691
42MP0010234_abnormal_vibrissa_follicle1.34385911
43MP0005620_abnormal_muscle_contractility1.32584522
44MP0004043_abnormal_pH_regulation1.32127421
45MP0002876_abnormal_thyroid_physiology1.31840536
46MP0003878_abnormal_ear_physiology1.30722958
47MP0005377_hearing/vestibular/ear_phenot1.30722958
48MP0002796_impaired_skin_barrier1.28618650
49MP0005332_abnormal_amino_acid1.26088222
50MP0002063_abnormal_learning/memory/cond1.24862071
51MP0005369_muscle_phenotype1.22852602
52MP0002115_abnormal_skeleton_extremities1.22005551
53MP0009046_muscle_twitch1.19392985
54MP0005084_abnormal_gallbladder_morpholo1.18836289
55MP0004233_abnormal_muscle_weight1.17767489
56MP0003656_abnormal_erythrocyte_physiolo1.14873050
57MP0009250_abnormal_appendicular_skeleto1.14530871
58MP0002269_muscular_atrophy1.13207270
59MP0002108_abnormal_muscle_morphology1.10600172
60MP0004087_abnormal_muscle_fiber1.10049470
61MP0001664_abnormal_digestion1.08857551
62MP0001299_abnormal_eye_distance/1.08579839
63MP0005645_abnormal_hypothalamus_physiol1.07728540
64MP0002572_abnormal_emotion/affect_behav1.06500068
65MP0002822_catalepsy1.05927687
66MP0002272_abnormal_nervous_system1.05735194
67MP0000013_abnormal_adipose_tissue1.01628960
68MP0005275_abnormal_skin_tensile1.01291334
69MP0002089_abnormal_postnatal_growth/wei1.01109939
70MP0006036_abnormal_mitochondrial_physio1.00272732
71MP0000750_abnormal_muscle_regeneration1.00225494
72MP0003787_abnormal_imprinting0.98562871
73MP0001542_abnormal_bone_strength0.98119400
74MP0000579_abnormal_nail_morphology0.97092348
75MP0002332_abnormal_exercise_endurance0.95128547
76MP0003252_abnormal_bile_duct0.93257209
77MP0003868_abnormal_feces_composition0.92565683
78MP0002067_abnormal_sensory_capabilities0.92149911
79MP0002118_abnormal_lipid_homeostasis0.91943559
80MP0001486_abnormal_startle_reflex0.91347095
81MP0004484_altered_response_of0.89846079
82MP0001501_abnormal_sleep_pattern0.87927331
83MP0003705_abnormal_hypodermis_morpholog0.84561868
84MP0009697_abnormal_copulation0.83816523
85MP0005503_abnormal_tendon_morphology0.82298527
86MP0001440_abnormal_grooming_behavior0.79296924
87MP0002735_abnormal_chemical_nociception0.78508677
88MP0002113_abnormal_skeleton_development0.77917131
89MP0001765_abnormal_ion_homeostasis0.77461380
90MP0002234_abnormal_pharynx_morphology0.77027996
91MP0002184_abnormal_innervation0.73702239
92MP0001963_abnormal_hearing_physiology0.72605146
93MP0002138_abnormal_hepatobiliary_system0.72528906
94MP0005319_abnormal_enzyme/_coenzyme0.71735856
95MP0000427_abnormal_hair_cycle0.71659811
96MP0005535_abnormal_body_temperature0.71326073
97MP0005386_behavior/neurological_phenoty0.70369152
98MP0004924_abnormal_behavior0.70369152
99MP0005220_abnormal_exocrine_pancreas0.68261919
100MP0001663_abnormal_digestive_system0.67134989

Predicted human phenotypes

RankGene SetZ-score
1Irregular epiphyses (HP:0010582)7.34083556
2Epiphyseal dysplasia (HP:0002656)7.22564453
3Vitreoretinal degeneration (HP:0000655)6.80903795
4Hypoplastic ischia (HP:0003175)6.19315379
5Abnormality of the ischium (HP:0003174)5.56456706
6Aplasia/Hypoplasia of the pubic bone (HP:0009104)5.21986363
7Abnormal tarsal ossification (HP:0008369)5.01527102
8Cupped ribs (HP:0000887)4.98355009
9Muscle fiber inclusion bodies (HP:0100299)4.44239733
10Small epiphyses (HP:0010585)4.34771675
11Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.28907606
12Exercise-induced myalgia (HP:0003738)4.05487587
13Flat acetabular roof (HP:0003180)3.99820083
14Arthropathy (HP:0003040)3.89891925
15Type 1 muscle fiber predominance (HP:0003803)3.87400735
16Nemaline bodies (HP:0003798)3.82126187
17Flat capital femoral epiphysis (HP:0003370)3.48453246
18Ulnar deviation of the wrist (HP:0003049)3.45122859
19Delayed epiphyseal ossification (HP:0002663)3.42591285
20Exercise-induced muscle cramps (HP:0003710)3.29358515
21Genu varum (HP:0002970)3.25305521
22Neonatal short-limb short stature (HP:0008921)3.22570715
23Abnormal foot bone ossification (HP:0010675)3.22564724
24Protuberant abdomen (HP:0001538)3.08108677
25Distal arthrogryposis (HP:0005684)3.06900919
26Myopathic facies (HP:0002058)3.00537821
27Round ear (HP:0100830)2.96628621
28Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.95430311
29Absent epiphyses (HP:0010577)2.95430311
30Muscle fiber splitting (HP:0003555)2.94307226
31Abnormality of the pubic bones (HP:0003172)2.88985690
32Waddling gait (HP:0002515)2.88703173
33Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.86197211
34Abnormality of femoral epiphyses (HP:0006499)2.86197211
35Metaphyseal irregularity (HP:0003025)2.83413292
36Metaphyseal cupping (HP:0003021)2.83079081
37Osteoarthritis (HP:0002758)2.79615150
38Absent phalangeal crease (HP:0006109)2.72737990
39Flattened epiphyses (HP:0003071)2.65805134
40Abnormality of the vertebral endplates (HP:0005106)2.62508856
41Long clavicles (HP:0000890)2.61614127
42Short femoral neck (HP:0100864)2.57494554
43Mild short stature (HP:0003502)2.53653943
44Gout (HP:0001997)2.51245812
45Increased connective tissue (HP:0009025)2.40188496
46Abnormality of incisor morphology (HP:0011063)2.38362269
47Focal motor seizures (HP:0011153)2.36569744
48Fetal akinesia sequence (HP:0001989)2.36504395
49Abnormality of the epiphysis of the femoral head (HP:0010574)2.35892303
50Distal lower limb muscle weakness (HP:0009053)2.29905658
51Irregular vertebral endplates (HP:0003301)2.29620911
52Hip contracture (HP:0003273)2.28009339
53Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.27759481
54Muscle hypertrophy of the lower extremities (HP:0008968)2.26335954
55Abnormality of the calf musculature (HP:0001430)2.24990770
56Abnormality of the femoral head (HP:0003368)2.22545761
57Abnormality of the vitreous humor (HP:0004327)2.19552709
58Abnormal finger flexion creases (HP:0006143)2.14562129
59Limited hip movement (HP:0008800)2.11752419
60Ovoid vertebral bodies (HP:0003300)2.11316909
61Atonic seizures (HP:0010819)2.10861007
62Hyporeflexia of lower limbs (HP:0002600)2.10276568
63Barrel-shaped chest (HP:0001552)2.09209830
64Metaphyseal dysplasia (HP:0100255)2.04786300
65Thin ribs (HP:0000883)2.03033015
66Hyperventilation (HP:0002883)2.02586066
67EMG: myopathic abnormalities (HP:0003458)2.02467258
68Calf muscle hypertrophy (HP:0008981)2.01335613
69Epileptic encephalopathy (HP:0200134)1.98113788
70Myoglobinuria (HP:0002913)1.97833974
71Abnormality of carpal bone ossification (HP:0006257)1.96857380
72Severe Myopia (HP:0011003)1.92772949
73Abnormality of the proximal phalanges of the hand (HP:0009834)1.91754681
74Hyperuricemia (HP:0002149)1.90902526
75Increased purine levels (HP:0004368)1.90902526
76Abnormality of the calcaneus (HP:0008364)1.90548853
77Fibular hypoplasia (HP:0003038)1.89628006
78Neck muscle weakness (HP:0000467)1.86193266
79Thoracolumbar scoliosis (HP:0002944)1.85342984
80Abnormality of skeletal muscle fiber size (HP:0012084)1.82928603
81Absent frontal sinuses (HP:0002688)1.82865519
82Abnormality of the phalanges of the 2nd finger (HP:0009541)1.81902272
83Calcaneovalgus deformity (HP:0001848)1.81369636
84Myotonia (HP:0002486)1.80333185
85Abnormal vertebral ossification (HP:0100569)1.77425083
86Beaking of vertebral bodies (HP:0004568)1.76982616
87Abnormality of aromatic amino acid family metabolism (HP:0004338)1.75758330
88Stillbirth (HP:0003826)1.75209949
89Cervical subluxation (HP:0003308)1.74387486
90Platyspondyly (HP:0000926)1.73788150
91Increased variability in muscle fiber diameter (HP:0003557)1.73124981
92Hypoplasia of the odontoid process (HP:0003311)1.72366055
93Vertebral clefting (HP:0008428)1.71716001
94Nonprogressive disorder (HP:0003680)1.68950224
95Distal lower limb amyotrophy (HP:0008944)1.68242702
96Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.67550456
97Aplasia/hypoplasia of the femur (HP:0005613)1.67209425
98Deformed tarsal bones (HP:0008119)1.66394794
99Mildly elevated creatine phosphokinase (HP:0008180)1.65274622
100Coxa vara (HP:0002812)1.64271584

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.42723627
2NME14.07334470
3EPHA43.34482658
4OBSCN3.31765381
5DAPK23.01602122
6CDK192.92408750
7STK38L2.53431259
8MAP3K32.45555712
9OXSR12.41992006
10STK242.30189482
11DDR22.17262182
12PHKG22.15121008
13PHKG12.15121008
14PIK3CG2.13009321
15MAP2K42.09810841
16PLK22.06759309
17MAP2K71.97413028
18CCNB11.92811112
19MAP3K121.87150523
20MAP3K41.84916209
21INSRR1.69745149
22ERBB31.66135603
23TTN1.65768283
24MAPK151.65321950
25DAPK11.64982744
26BCKDK1.55545813
27PRKG21.54116362
28PRPF4B1.41617498
29MAPK121.41375290
30TAOK11.36380165
31AKT31.16478629
32MAPKAPK31.11471199
33PDK21.09401496
34CAMKK21.08383087
35PDK31.07030378
36PDK41.07030378
37FRK1.05714007
38PIK3CA0.97786920
39MAP2K30.97439853
40TRPM70.95348314
41DYRK1A0.94504123
42PTK2B0.92663869
43PINK10.91841077
44WNK40.91540839
45MAP3K70.91181020
46MAPK70.88650105
47SGK4940.87963284
48SGK2230.87963284
49WNK30.87456093
50TAOK20.86458596
51MST1R0.85420243
52MAP2K60.84168582
53SGK20.81130168
54MUSK0.78903225
55GRK50.77593787
56NTRK30.77388129
57RIPK10.75034100
58CAMK2A0.72578327
59CAMK2B0.69747531
60FER0.64843693
61MAP2K10.63729315
62TRIB30.62269536
63NEK10.61333552
64CAMK2D0.59012537
65CAMK2G0.58100031
66SGK10.57836111
67MST40.57482065
68STK110.57097728
69CAMKK10.54887508
70PRKCG0.53400455
71SIK20.53084038
72KSR10.51912564
73CDK50.51425812
74DAPK30.49188654
75BMPR20.49114898
76SGK30.46419689
77MAP3K90.44161465
78ADRBK10.43575098
79PRKACA0.43571329
80PRKD30.43396860
81MAP3K10.43018533
82MAP3K110.41708723
83PRKG10.38641999
84MAPK40.37774584
85MKNK20.37036086
86SIK10.36425158
87PDPK10.36324340
88SIK30.34357521
89MAPK130.34318266
90ROCK10.31997697
91ERN10.31857287
92PRKCE0.29294806
93STK390.29173800
94MET0.29025471
95ADRBK20.28373063
96PDK10.27651775
97PRKACG0.27108297
98PRKCA0.26438818
99LATS10.25947178
100MINK10.25715691

Predicted pathways (KEGG)

RankGene SetZ-score
1Olfactory transduction_Homo sapiens_hsa047403.19577940
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.00035893
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.18916437
4Protein digestion and absorption_Homo sapiens_hsa049742.10743081
5Starch and sucrose metabolism_Homo sapiens_hsa005002.01544089
6Primary bile acid biosynthesis_Homo sapiens_hsa001201.96521462
7Synaptic vesicle cycle_Homo sapiens_hsa047211.93507859
8Arginine biosynthesis_Homo sapiens_hsa002201.82350830
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.81548064
10Collecting duct acid secretion_Homo sapiens_hsa049661.80668322
112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.68563978
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.64389138
13Propanoate metabolism_Homo sapiens_hsa006401.61192699
14Pentose and glucuronate interconversions_Homo sapiens_hsa000401.56713969
15Pyruvate metabolism_Homo sapiens_hsa006201.56223740
16Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.53489587
17Sulfur metabolism_Homo sapiens_hsa009201.47842683
18Nicotine addiction_Homo sapiens_hsa050331.44927596
19Pancreatic secretion_Homo sapiens_hsa049721.44668975
20Circadian entrainment_Homo sapiens_hsa047131.39260701
21Amphetamine addiction_Homo sapiens_hsa050311.38871313
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.37497789
23Vibrio cholerae infection_Homo sapiens_hsa051101.32229132
24Insulin secretion_Homo sapiens_hsa049111.31292680
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25403038
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25123636
27Butanoate metabolism_Homo sapiens_hsa006501.22315751
28Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21922581
29ECM-receptor interaction_Homo sapiens_hsa045121.20553880
30Renin secretion_Homo sapiens_hsa049241.19408594
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.18957120
32Arginine and proline metabolism_Homo sapiens_hsa003301.14161524
33Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.12529532
34Nitrogen metabolism_Homo sapiens_hsa009101.06303350
35Salivary secretion_Homo sapiens_hsa049701.05796782
36Oxytocin signaling pathway_Homo sapiens_hsa049211.05477748
37Morphine addiction_Homo sapiens_hsa050321.05449810
38Tryptophan metabolism_Homo sapiens_hsa003801.05382926
39Fat digestion and absorption_Homo sapiens_hsa049751.04988192
40GABAergic synapse_Homo sapiens_hsa047271.04825494
41Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.03764218
42Calcium signaling pathway_Homo sapiens_hsa040201.03153681
43Bile secretion_Homo sapiens_hsa049761.02616077
44Vitamin digestion and absorption_Homo sapiens_hsa049770.96413288
45Carbon metabolism_Homo sapiens_hsa012000.95866521
46Gastric acid secretion_Homo sapiens_hsa049710.94765605
47Phenylalanine metabolism_Homo sapiens_hsa003600.94019576
48Biosynthesis of amino acids_Homo sapiens_hsa012300.93918628
49Steroid biosynthesis_Homo sapiens_hsa001000.93453959
50Fatty acid degradation_Homo sapiens_hsa000710.90953744
51Oxidative phosphorylation_Homo sapiens_hsa001900.90566864
52Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.89876832
53Peroxisome_Homo sapiens_hsa041460.89855957
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.88828036
55beta-Alanine metabolism_Homo sapiens_hsa004100.87533783
56Long-term potentiation_Homo sapiens_hsa047200.86432097
57Aldosterone synthesis and secretion_Homo sapiens_hsa049250.85897983
58Glucagon signaling pathway_Homo sapiens_hsa049220.85315976
59Folate biosynthesis_Homo sapiens_hsa007900.85313072
60Histidine metabolism_Homo sapiens_hsa003400.84402879
61Cyanoamino acid metabolism_Homo sapiens_hsa004600.83873491
62Dopaminergic synapse_Homo sapiens_hsa047280.81430547
63Glutamatergic synapse_Homo sapiens_hsa047240.79658102
64Maturity onset diabetes of the young_Homo sapiens_hsa049500.77986616
65Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.77953332
66Dilated cardiomyopathy_Homo sapiens_hsa054140.77244357
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.77202789
68Cocaine addiction_Homo sapiens_hsa050300.75825551
69Fructose and mannose metabolism_Homo sapiens_hsa000510.75060353
70Circadian rhythm_Homo sapiens_hsa047100.74846580
71Cardiac muscle contraction_Homo sapiens_hsa042600.73437911
72Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.73115083
73PPAR signaling pathway_Homo sapiens_hsa033200.72472239
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.70261496
75Taste transduction_Homo sapiens_hsa047420.67897915
76cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67164785
77Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.65966227
78Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65577070
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65176743
80Chemical carcinogenesis_Homo sapiens_hsa052040.65022519
81Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.64952903
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.64570014
83Fatty acid metabolism_Homo sapiens_hsa012120.62791314
84Cholinergic synapse_Homo sapiens_hsa047250.62550609
85Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.59823715
86Complement and coagulation cascades_Homo sapiens_hsa046100.59728429
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.58008918
88Long-term depression_Homo sapiens_hsa047300.57912821
89GnRH signaling pathway_Homo sapiens_hsa049120.56580588
90Alzheimers disease_Homo sapiens_hsa050100.56164901
91Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56083197
92Selenocompound metabolism_Homo sapiens_hsa004500.55522382
93Fatty acid elongation_Homo sapiens_hsa000620.55225261
94Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.55044442
95Glycerolipid metabolism_Homo sapiens_hsa005610.54038910
96Serotonergic synapse_Homo sapiens_hsa047260.52900037
97Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.52663551
98cAMP signaling pathway_Homo sapiens_hsa040240.51629471
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.46777782
100Tyrosine metabolism_Homo sapiens_hsa003500.45082101

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