USP6

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





Description: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome reaction (GO:0007340)7.63268065
2sperm motility (GO:0030317)7.51724438
3piRNA metabolic process (GO:0034587)6.49920072
4male meiosis I (GO:0007141)6.38103695
5fusion of sperm to egg plasma membrane (GO:0007342)6.08445190
6establishment of protein localization to Golgi (GO:0072600)6.05164122
7synapsis (GO:0007129)5.96009841
8protein targeting to Golgi (GO:0000042)5.84806478
9response to pheromone (GO:0019236)5.83387941
10DNA methylation involved in gamete generation (GO:0043046)5.80025190
11male meiosis (GO:0007140)5.79499744
12spermatid development (GO:0007286)5.46735945
13retrograde transport, vesicle recycling within Golgi (GO:0000301)5.44004026
14cilium or flagellum-dependent cell motility (GO:0001539)5.30793805
15sperm capacitation (GO:0048240)5.24863216
16negative regulation of inclusion body assembly (GO:0090084)5.09691353
17chromosome organization involved in meiosis (GO:0070192)5.02424652
18meiosis I (GO:0007127)4.80111933
19multicellular organism reproduction (GO:0032504)4.75726746
20microtubule depolymerization (GO:0007019)4.71060531
21plasma membrane fusion (GO:0045026)4.70390407
22synaptonemal complex assembly (GO:0007130)4.59665271
23protein polyglutamylation (GO:0018095)4.57007034
24regulation of cilium movement (GO:0003352)4.56626079
25microtubule polymerization or depolymerization (GO:0031109)4.52779156
26axonemal dynein complex assembly (GO:0070286)4.52403298
27synaptonemal complex organization (GO:0070193)4.51124269
28protein localization to Golgi apparatus (GO:0034067)4.49681726
29sperm-egg recognition (GO:0035036)4.48891300
30regulation of skeletal muscle contraction (GO:0014819)4.48325109
31spermatogenesis (GO:0007283)4.41975303
32regulation of meiosis I (GO:0060631)4.41948581
33calcium ion-dependent exocytosis (GO:0017156)4.41580091
34male gamete generation (GO:0048232)4.41083890
35meiotic nuclear division (GO:0007126)4.37208124
36DNA packaging (GO:0006323)4.33218731
37phosphatidylethanolamine biosynthetic process (GO:0006646)4.26515052
38centriole replication (GO:0007099)4.23791800
39single strand break repair (GO:0000012)4.19354541
40gamete generation (GO:0007276)4.12448799
41phosphatidylethanolamine metabolic process (GO:0046337)3.99686013
42reproduction (GO:0000003)3.97285414
43motile cilium assembly (GO:0044458)3.95900494
44skeletal muscle contraction (GO:0003009)3.95316722
45cell wall macromolecule metabolic process (GO:0044036)3.93306161
46chromosome condensation (GO:0030261)3.92234999
47epithelial cilium movement (GO:0003351)3.87670264
48spermatid nucleus differentiation (GO:0007289)3.78313092
49sarcoplasmic reticulum calcium ion transport (GO:0070296)3.75254457
50microtubule severing (GO:0051013)3.73879171
51actin-myosin filament sliding (GO:0033275)3.72578915
52muscle filament sliding (GO:0030049)3.72578915
53rRNA methylation (GO:0031167)3.63712765
54negative regulation of Rho protein signal transduction (GO:0035024)3.63596778
55histone H3-K9 demethylation (GO:0033169)3.63575732
56centriole assembly (GO:0098534)3.61694028
57cell-cell recognition (GO:0009988)3.61325006
58binding of sperm to zona pellucida (GO:0007339)3.57592227
59fertilization (GO:0009566)3.52697157
60cellular ketone body metabolic process (GO:0046950)3.52317097
61cilium movement (GO:0003341)3.51355669
62positive regulation of meiosis (GO:0045836)3.46558711
63* regulation of Rab GTPase activity (GO:0032313)3.46106981
64* positive regulation of Rab GTPase activity (GO:0032851)3.46106981
65RNA destabilization (GO:0050779)3.43208044
66germ cell development (GO:0007281)3.41206152
67seminiferous tubule development (GO:0072520)3.40921723
68axoneme assembly (GO:0035082)3.37659281
69regulation of microtubule-based movement (GO:0060632)3.33753467
70Golgi to endosome transport (GO:0006895)3.32551622
71meiotic cell cycle process (GO:1903046)3.25668582
72microtubule nucleation (GO:0007020)3.25314837
73positive regulation of meiotic cell cycle (GO:0051446)3.22166170
74multicellular organismal reproductive process (GO:0048609)3.20811679
75single fertilization (GO:0007338)3.15391771
76ketone body metabolic process (GO:1902224)3.14445403
77peptidyl-threonine dephosphorylation (GO:0035970)3.14284964
78DNA synthesis involved in DNA repair (GO:0000731)3.13200868
79epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.11107848
80cellular process involved in reproduction in multicellular organism (GO:0022412)3.09003507
81actin-mediated cell contraction (GO:0070252)3.08961551
82growth hormone receptor signaling pathway (GO:0060396)3.07792812
83regulation of centriole replication (GO:0046599)3.03790786
84musculoskeletal movement (GO:0050881)2.98487196
85multicellular organismal movement (GO:0050879)2.98487196
86regulation of inclusion body assembly (GO:0090083)2.94235870
87reciprocal DNA recombination (GO:0035825)2.91713985
88reciprocal meiotic recombination (GO:0007131)2.91713985
89detection of light stimulus involved in sensory perception (GO:0050962)2.91685831
90detection of light stimulus involved in visual perception (GO:0050908)2.91685831
91organic cation transport (GO:0015695)2.90395109
92regulation of transcription involved in cell fate commitment (GO:0060850)2.89744061
93intra-Golgi vesicle-mediated transport (GO:0006891)2.87683322
94cell wall macromolecule catabolic process (GO:0016998)2.86276053
95histone H3-K36 demethylation (GO:0070544)2.83534403
96sister chromatid cohesion (GO:0007062)2.80147426
97rRNA modification (GO:0000154)2.78235270
98regulation of sarcomere organization (GO:0060297)2.77272806
99photoreceptor cell maintenance (GO:0045494)2.76291904
100resolution of meiotic recombination intermediates (GO:0000712)2.71661583

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human2.87633386
2GBX2_23144817_ChIP-Seq_PC3_Human2.62069367
3FUS_26573619_Chip-Seq_HEK293_Human2.49093257
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.47195819
5ER_23166858_ChIP-Seq_MCF-7_Human2.43543280
6VDR_22108803_ChIP-Seq_LS180_Human2.42831841
7TAF15_26573619_Chip-Seq_HEK293_Human2.41105973
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.37253009
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.31895023
10* ZNF274_21170338_ChIP-Seq_K562_Hela2.22634684
11IGF1R_20145208_ChIP-Seq_DFB_Human2.16459149
12CBP_20019798_ChIP-Seq_JUKART_Human2.16217026
13IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.16217026
14CTBP1_25329375_ChIP-Seq_LNCAP_Human2.16153174
15SALL1_21062744_ChIP-ChIP_HESCs_Human2.11741980
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03464700
17TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.90193679
18POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.90193679
19UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.86275998
20P300_19829295_ChIP-Seq_ESCs_Human1.81680546
21EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.72954016
22STAT3_23295773_ChIP-Seq_U87_Human1.67184277
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.66563927
24SMAD4_21799915_ChIP-Seq_A2780_Human1.65074357
25SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.64134256
26AR_25329375_ChIP-Seq_VCAP_Human1.62953154
27SMAD4_21741376_ChIP-Seq_EPCs_Human1.59807259
28AR_21572438_ChIP-Seq_LNCaP_Human1.59681213
29KLF5_20875108_ChIP-Seq_MESCs_Mouse1.55527669
30TOP2B_26459242_ChIP-Seq_MCF-7_Human1.54365778
31FLI1_27457419_Chip-Seq_LIVER_Mouse1.51770621
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.50664946
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.49510671
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.46057888
35DROSHA_22980978_ChIP-Seq_HELA_Human1.45173890
36TCF4_23295773_ChIP-Seq_U87_Human1.42745107
37SMAD3_21741376_ChIP-Seq_EPCs_Human1.40198691
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.38298832
39RUNX2_22187159_ChIP-Seq_PCA_Human1.38243716
40NR3C1_21868756_ChIP-Seq_MCF10A_Human1.35219207
41CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.34194286
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.33798891
43SOX2_19829295_ChIP-Seq_ESCs_Human1.33134915
44NANOG_19829295_ChIP-Seq_ESCs_Human1.33134915
45VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.32742979
46WDR5_24793694_ChIP-Seq_LNCAP_Human1.30856536
47PRDM14_20953172_ChIP-Seq_ESCs_Human1.30222142
48OCT4_20526341_ChIP-Seq_ESCs_Human1.28098991
49CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27933462
50GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.27840367
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.27670075
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.26995146
53ETV1_20927104_ChIP-Seq_GIST48_Human1.26578208
54MYC_19829295_ChIP-Seq_ESCs_Human1.26049751
55TDRD3_21172665_ChIP-Seq_MCF-7_Human1.24118719
56ARNT_22903824_ChIP-Seq_MCF-7_Human1.23068279
57ERA_21632823_ChIP-Seq_H3396_Human1.22090587
58AUTS2_25519132_ChIP-Seq_293T-REX_Human1.21118159
59BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19562243
60REST_21632747_ChIP-Seq_MESCs_Mouse1.18032524
61MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17726923
62TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16901523
63NANOG_20526341_ChIP-Seq_ESCs_Human1.15758712
64MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.14604121
65CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.14587940
66PIAS1_25552417_ChIP-Seq_VCAP_Human1.14439506
67CBX2_22325352_ChIP-Seq_293T-Rex_Human1.14427895
68RNF2_27304074_Chip-Seq_NSC_Mouse1.13986688
69TBL1_22424771_ChIP-Seq_293T_Human1.13606697
70SUZ12_27294783_Chip-Seq_NPCs_Mouse1.13246280
71SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.12345482
72SMAD3_21741376_ChIP-Seq_ESCs_Human1.12334082
73NFYB_21822215_ChIP-Seq_K562_Human1.12311692
74RBPJ_21746931_ChIP-Seq_IB4_Human1.10374108
75PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10191834
76HOXB7_26014856_ChIP-Seq_BT474_Human1.09542480
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.08888342
78FOXA1_21572438_ChIP-Seq_LNCaP_Human1.08559759
79PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.08521066
80PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08215502
81SOX2_21211035_ChIP-Seq_LN229_Gbm1.08129701
82BCAT_22108803_ChIP-Seq_LS180_Human1.07982234
83RAC3_21632823_ChIP-Seq_H3396_Human1.07813712
84TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.07403689
85PHF8_20622853_ChIP-Seq_HELA_Human1.06244785
86TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.05671680
87NCOR_22424771_ChIP-Seq_293T_Human1.04077427
88TCF4_22108803_ChIP-Seq_LS180_Human1.03644798
89TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.03630738
90PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.02769180
91EZH2_27294783_Chip-Seq_NPCs_Mouse1.02762924
92HNFA_21074721_ChIP-Seq_CACO-2_Human1.02698105
93SMRT_27268052_Chip-Seq_Bcells_Human1.01956550
94GATA3_21878914_ChIP-Seq_MCF-7_Human1.01564521
95NANOG_18555785_Chip-Seq_ESCs_Mouse1.01548367
96EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.01448517
97ETV2_25802403_ChIP-Seq_MESCs_Mouse1.00847453
98TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00495786
99GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.00411784
100CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.00377987

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.33698839
2MP0003646_muscle_fatigue6.03950187
3MP0008877_abnormal_DNA_methylation3.66003095
4MP0004145_abnormal_muscle_electrophysio3.39935231
5MP0003698_abnormal_male_reproductive3.33134651
6MP0005377_hearing/vestibular/ear_phenot3.05906797
7MP0003878_abnormal_ear_physiology3.05906797
8MP0001929_abnormal_gametogenesis2.96322276
9MP0000749_muscle_degeneration2.68316905
10MP0004036_abnormal_muscle_relaxation2.39102955
11MP0005670_abnormal_white_adipose2.14099289
12MP0002210_abnormal_sex_determination2.03582690
13MP0000751_myopathy2.00698407
14MP0002106_abnormal_muscle_physiology1.80562318
15MP0001968_abnormal_touch/_nociception1.74837008
16MP0002332_abnormal_exercise_endurance1.68544897
17MP0001486_abnormal_startle_reflex1.67270464
18MP0001984_abnormal_olfaction1.63140118
19MP0004233_abnormal_muscle_weight1.59216850
20MP0005620_abnormal_muscle_contractility1.58121149
21MP0005423_abnormal_somatic_nervous1.58046643
22MP0004130_abnormal_muscle_cell1.57583211
23MP0002161_abnormal_fertility/fecundity1.55243830
24MP0001145_abnormal_male_reproductive1.54105006
25MP0002269_muscular_atrophy1.53566526
26MP0005369_muscle_phenotype1.53466339
27MP0000653_abnormal_sex_gland1.47883809
28MP0003879_abnormal_hair_cell1.46679888
29MP0004084_abnormal_cardiac_muscle1.42264144
30MP0004484_altered_response_of1.41141061
31MP0000427_abnormal_hair_cycle1.37816411
32MP0005451_abnormal_body_composition1.34289610
33MP0005551_abnormal_eye_electrophysiolog1.33971092
34MP0000013_abnormal_adipose_tissue1.33838025
35MP0008995_early_reproductive_senescence1.32266658
36MP0001485_abnormal_pinna_reflex1.32000791
37MP0004270_analgesia1.31706001
38MP0002138_abnormal_hepatobiliary_system1.29684755
39MP0006276_abnormal_autonomic_nervous1.29540594
40MP0002160_abnormal_reproductive_system1.26803361
41MP0002127_abnormal_cardiovascular_syste1.26562187
42MP0001501_abnormal_sleep_pattern1.26105228
43MP0002735_abnormal_chemical_nociception1.22067644
44MP0002272_abnormal_nervous_system1.20644125
45MP0005167_abnormal_blood-brain_barrier1.19863752
46MP0004215_abnormal_myocardial_fiber1.17930001
47MP0009745_abnormal_behavioral_response1.17918574
48MP0000750_abnormal_muscle_regeneration1.17566127
49MP0000759_abnormal_skeletal_muscle1.16235202
50MP0002067_abnormal_sensory_capabilities1.16037978
51MP0000569_abnormal_digit_pigmentation1.15001800
52MP0002736_abnormal_nociception_after1.14353870
53MP0000678_abnormal_parathyroid_gland1.13170752
54MP0004087_abnormal_muscle_fiber1.12275372
55MP0002837_dystrophic_cardiac_calcinosis1.09766295
56MP0009046_muscle_twitch1.08394694
57MP0005266_abnormal_metabolism1.02164133
58MP0000747_muscle_weakness1.01842392
59MP0001986_abnormal_taste_sensitivity1.01602013
60MP0002108_abnormal_muscle_morphology1.01173594
61MP0005253_abnormal_eye_physiology1.01154634
62MP0000383_abnormal_hair_follicle1.01025816
63MP0002822_catalepsy1.00529611
64MP0002572_abnormal_emotion/affect_behav0.98828772
65MP0003635_abnormal_synaptic_transmissio0.98805282
66MP0003718_maternal_effect0.95694127
67MP0002132_abnormal_respiratory_system0.95636792
68MP0002249_abnormal_larynx_morphology0.92666131
69MP0002734_abnormal_mechanical_nocicepti0.91826791
70MP0004085_abnormal_heartbeat0.91742471
71MP0001963_abnormal_hearing_physiology0.91390787
72MP0003137_abnormal_impulse_conducting0.85937290
73MP0005310_abnormal_salivary_gland0.85054557
74MP0004043_abnormal_pH_regulation0.84284307
75MP0006036_abnormal_mitochondrial_physio0.83498877
76MP0004142_abnormal_muscle_tone0.82925066
77MP0002229_neurodegeneration0.81062213
78MP0002972_abnormal_cardiac_muscle0.80599875
79MP0002733_abnormal_thermal_nociception0.80157925
80MP0003136_yellow_coat_color0.79914025
81MP0003011_delayed_dark_adaptation0.79337910
82MP0002971_abnormal_brown_adipose0.78630559
83MP0000733_abnormal_muscle_development0.77653190
84MP0000955_abnormal_spinal_cord0.77576184
85MP0002277_abnormal_respiratory_mucosa0.76035269
86MP0004742_abnormal_vestibular_system0.74835311
87MP0004859_abnormal_synaptic_plasticity0.72323031
88MP0001661_extended_life_span0.72136154
89MP0005535_abnormal_body_temperature0.71815946
90MP0001970_abnormal_pain_threshold0.71084427
91MP0005646_abnormal_pituitary_gland0.70596453
92MP0002063_abnormal_learning/memory/cond0.69657650
93MP0001765_abnormal_ion_homeostasis0.68200790
94MP0002557_abnormal_social/conspecific_i0.67393234
95MP0008004_abnormal_stomach_pH0.66596628
96MP0004381_abnormal_hair_follicle0.66233239
97MP0002064_seizures0.65727043
98MP0004924_abnormal_behavior0.64807550
99MP0005386_behavior/neurological_phenoty0.64807550
100MP0000230_abnormal_systemic_arterial0.63799215

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)6.07905902
2Nemaline bodies (HP:0003798)6.01324838
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.78841358
4Distal arthrogryposis (HP:0005684)4.63634679
5Exercise-induced myalgia (HP:0003738)4.62311074
6Hyperkalemia (HP:0002153)4.41313493
7Tubulointerstitial nephritis (HP:0001970)4.15088122
8Exercise-induced muscle cramps (HP:0003710)4.11973023
9Absent/shortened dynein arms (HP:0200106)4.08647811
10Dynein arm defect of respiratory motile cilia (HP:0012255)4.08647811
11Muscle hypertrophy of the lower extremities (HP:0008968)4.06131921
12Asymmetric septal hypertrophy (HP:0001670)3.86486278
13Type 1 muscle fiber predominance (HP:0003803)3.69008831
14Chronic hepatic failure (HP:0100626)3.67848378
15Calf muscle hypertrophy (HP:0008981)3.48869226
16Attenuation of retinal blood vessels (HP:0007843)3.48813936
17Severe visual impairment (HP:0001141)3.43410998
18Rimmed vacuoles (HP:0003805)3.41723764
19Abnormal ciliary motility (HP:0012262)3.22198782
20Abnormal respiratory epithelium morphology (HP:0012253)3.14626844
21Abnormal respiratory motile cilium morphology (HP:0005938)3.14626844
22Muscle fiber splitting (HP:0003555)3.13030653
23Nephronophthisis (HP:0000090)3.12820425
24Ulnar deviation of the wrist (HP:0003049)3.11130658
25Fetal akinesia sequence (HP:0001989)3.03881774
26Absent phalangeal crease (HP:0006109)2.97288063
27Abnormal respiratory motile cilium physiology (HP:0012261)2.92513989
28Bony spicule pigmentary retinopathy (HP:0007737)2.84434745
29Myoglobinuria (HP:0002913)2.81279451
30Abnormality of the renal medulla (HP:0100957)2.80665706
31Round ear (HP:0100830)2.73315729
32Truncal obesity (HP:0001956)2.71718529
33Progressive cerebellar ataxia (HP:0002073)2.70891477
34Azoospermia (HP:0000027)2.69734989
35Rhabdomyolysis (HP:0003201)2.67225213
36Malignant hyperthermia (HP:0002047)2.61511807
37Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.60296718
38Abnormality of potassium homeostasis (HP:0011042)2.55188228
39Abnormality of the left ventricular outflow tract (HP:0011103)2.51014803
40Subaortic stenosis (HP:0001682)2.51014803
41Polydipsia (HP:0001959)2.50585119
42Abnormal drinking behavior (HP:0030082)2.50585119
43Bell-shaped thorax (HP:0001591)2.49035376
44Abnormal finger flexion creases (HP:0006143)2.47508301
45Febrile seizures (HP:0002373)2.43765412
46Hypoplastic ischia (HP:0003175)2.43104015
47Pancreatic cysts (HP:0001737)2.42641646
48EMG: myopathic abnormalities (HP:0003458)2.37278150
49Cone-rod dystrophy (HP:0000548)2.36145781
50Abnormality of macular pigmentation (HP:0008002)2.35479042
51Abnormality of the calf musculature (HP:0001430)2.35328545
52Abnormal spermatogenesis (HP:0008669)2.34045066
53Horizontal nystagmus (HP:0000666)2.33507055
54Myopathic facies (HP:0002058)2.32573233
55Tubulointerstitial abnormality (HP:0001969)2.30553673
56Postural instability (HP:0002172)2.29233466
57Pancreatic fibrosis (HP:0100732)2.23281473
58Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.20569310
59Genetic anticipation (HP:0003743)2.16155598
60Type II lissencephaly (HP:0007260)2.14879509
61Infertility (HP:0000789)2.14207675
62Abnormality of the ischium (HP:0003174)2.11888195
63Oligodactyly (hands) (HP:0001180)2.10691107
64Abnormality of the neuromuscular junction (HP:0003398)2.07833054
65Fatigable weakness (HP:0003473)2.07833054
66Medial flaring of the eyebrow (HP:0010747)2.07616100
67Atonic seizures (HP:0010819)2.06976823
68Abnormality of the renal cortex (HP:0011035)2.01939532
69True hermaphroditism (HP:0010459)1.99435603
70Weak cry (HP:0001612)1.98203611
71Hyporeflexia of lower limbs (HP:0002600)1.98124043
72Abnormality of midbrain morphology (HP:0002418)1.94684542
73Molar tooth sign on MRI (HP:0002419)1.94684542
74Gait imbalance (HP:0002141)1.92762620
75Polyuria (HP:0000103)1.92426515
76Resting tremor (HP:0002322)1.92334339
77Stage 5 chronic kidney disease (HP:0003774)1.92284757
78Male infertility (HP:0003251)1.89659770
79Type 2 muscle fiber atrophy (HP:0003554)1.89472819
80Abnormal rod and cone electroretinograms (HP:0008323)1.89301724
81Abnormal urine output (HP:0012590)1.88552174
82Myotonia (HP:0002486)1.88214683
83Congenital hepatic fibrosis (HP:0002612)1.87091583
84Tubular atrophy (HP:0000092)1.85783097
85Nasal polyposis (HP:0100582)1.84883359
86Calcaneovalgus deformity (HP:0001848)1.84728637
87Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.84124740
88Absent speech (HP:0001344)1.83829095
89Bundle branch block (HP:0011710)1.83535969
90Shoulder girdle muscle weakness (HP:0003547)1.82913884
91Congenital primary aphakia (HP:0007707)1.82643797
92Difficulty running (HP:0009046)1.82440562
93Frequent falls (HP:0002359)1.80690499
94Cerebellar dysplasia (HP:0007033)1.79046099
95Inability to walk (HP:0002540)1.78028675
96Hypokalemia (HP:0002900)1.77572488
97Aplasia/Hypoplasia of the earlobes (HP:0009906)1.76992962
98Rhinitis (HP:0012384)1.76691153
99Enlarged epiphyses (HP:0010580)1.76618615
100Poor coordination (HP:0002370)1.75838527

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN5.00860493
2PLK44.44056831
3FRK4.02063998
4PNCK4.00300477
5STK38L2.99173100
6PHKG12.67472392
7PHKG22.67472392
8PIK3CG2.57441375
9PLK22.41595904
10PINK12.26477345
11INSRR2.25198213
12PTK2B2.07892552
13STK382.02450617
14CAMK1G1.88658877
15OXSR11.79706454
16MAP4K21.76269961
17CDK191.68699476
18BRD41.63904023
19ACVR1B1.62273632
20MAP3K41.60702088
21DDR21.48255518
22TAOK31.46383643
23MAPK131.45733734
24BMPR1B1.37771530
25ADRBK21.26922233
26DYRK1B1.21018339
27TESK11.16983100
28PDK11.16283875
29MUSK1.09769587
30CASK1.07294285
31MAP2K41.06474714
32MAPK151.05987098
33MARK11.02716856
34TTN0.99098434
35PDPK10.96835341
36WNK30.95978082
37DAPK20.95836786
38AKT30.93528883
39MAP3K70.91335746
40MAP2K70.88084472
41SGK20.83922262
42CAMK10.81655675
43CSF1R0.81032136
44NEK60.76767688
45PRKAA20.75330321
46PRKG10.74001198
47MET0.72913387
48MAPK120.69267675
49SGK10.64568004
50PRKAA10.64218311
51WNK10.61491028
52CAMK40.61048433
53GRK10.60119073
54TRIM280.58818570
55SGK4940.58584606
56SGK2230.58584606
57KSR20.56035875
58CAMK2A0.52472178
59PRKCE0.52223563
60LATS10.51623231
61PKN10.51519978
62DYRK30.51093786
63PRKD30.50415384
64SGK30.49350809
65STK110.48981385
66NTRK30.47314305
67PRKCG0.47251421
68FGR0.46636595
69STK390.45179940
70ADRBK10.44482038
71RPS6KB10.42352857
72ERBB30.41438190
73DYRK1A0.41414034
74TNK20.40802630
75TIE10.40760785
76MKNK20.40426652
77RET0.39670835
78PRKACB0.39123310
79CDK30.38837271
80WNK40.38827802
81IRAK10.38101666
82MAP3K90.38056690
83NLK0.37832565
84BMX0.37448474
85MAP2K60.36004333
86RPS6KA10.35849385
87ROCK10.35634331
88ZAK0.35445275
89MAPKAPK30.34858964
90PIK3CA0.34407230
91CCNB10.34036284
92EPHA30.32925163
93NME10.32093116
94PRKCZ0.32066249
95PRKG20.31130209
96MAP3K20.30286968
97TNIK0.29625548
98TRPM70.29192066
99CHUK0.28783451
100MAP2K10.27977572

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.43475763
2Fatty acid biosynthesis_Homo sapiens_hsa000613.14368677
3Olfactory transduction_Homo sapiens_hsa047402.93849697
4Butanoate metabolism_Homo sapiens_hsa006502.55512617
5Phototransduction_Homo sapiens_hsa047442.49940795
6Circadian rhythm_Homo sapiens_hsa047102.33784561
7Nitrogen metabolism_Homo sapiens_hsa009102.22572829
8Dorso-ventral axis formation_Homo sapiens_hsa043202.06538825
9Taste transduction_Homo sapiens_hsa047422.04404886
10Calcium signaling pathway_Homo sapiens_hsa040201.96481770
11Nicotine addiction_Homo sapiens_hsa050331.93705690
12Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.86821206
13Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.74145692
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.69038874
15Circadian entrainment_Homo sapiens_hsa047131.66663067
16ABC transporters_Homo sapiens_hsa020101.66277754
17Cardiac muscle contraction_Homo sapiens_hsa042601.62625846
18Propanoate metabolism_Homo sapiens_hsa006401.59209392
19Regulation of autophagy_Homo sapiens_hsa041401.58220787
20Glycerophospholipid metabolism_Homo sapiens_hsa005641.55601698
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.52608038
22Oxytocin signaling pathway_Homo sapiens_hsa049211.52107254
23Morphine addiction_Homo sapiens_hsa050321.42802658
24Salivary secretion_Homo sapiens_hsa049701.34159608
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.32930698
26Adipocytokine signaling pathway_Homo sapiens_hsa049201.26079441
27Long-term depression_Homo sapiens_hsa047301.25934197
28Linoleic acid metabolism_Homo sapiens_hsa005911.23464763
29Type II diabetes mellitus_Homo sapiens_hsa049301.21707995
30Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.21581423
31Glutamatergic synapse_Homo sapiens_hsa047241.19034069
32GABAergic synapse_Homo sapiens_hsa047271.17342023
33Fatty acid degradation_Homo sapiens_hsa000711.16770814
34Gastric acid secretion_Homo sapiens_hsa049711.16363083
35Renin secretion_Homo sapiens_hsa049241.15282457
36Dilated cardiomyopathy_Homo sapiens_hsa054141.14577088
37Oocyte meiosis_Homo sapiens_hsa041141.13894936
38Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.13627696
39Primary bile acid biosynthesis_Homo sapiens_hsa001201.10383945
40Serotonergic synapse_Homo sapiens_hsa047261.10047819
41beta-Alanine metabolism_Homo sapiens_hsa004101.08680171
42Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.07790330
43Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.05869815
44Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03631305
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.03206894
46Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.03143362
47cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01797908
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.98169056
49Glucagon signaling pathway_Homo sapiens_hsa049220.96779656
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.94037611
51Selenocompound metabolism_Homo sapiens_hsa004500.93285179
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.92058140
53Insulin secretion_Homo sapiens_hsa049110.91686197
54cAMP signaling pathway_Homo sapiens_hsa040240.91047904
55Fatty acid metabolism_Homo sapiens_hsa012120.87066400
56Arginine and proline metabolism_Homo sapiens_hsa003300.86006729
57Inositol phosphate metabolism_Homo sapiens_hsa005620.84625874
58Cholinergic synapse_Homo sapiens_hsa047250.80990216
59Insulin resistance_Homo sapiens_hsa049310.77670781
60MAPK signaling pathway_Homo sapiens_hsa040100.77667541
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74478995
62Fanconi anemia pathway_Homo sapiens_hsa034600.74394895
63Basal transcription factors_Homo sapiens_hsa030220.73544678
64Tryptophan metabolism_Homo sapiens_hsa003800.70405354
65Long-term potentiation_Homo sapiens_hsa047200.70391828
66Insulin signaling pathway_Homo sapiens_hsa049100.68427412
67Dopaminergic synapse_Homo sapiens_hsa047280.67506346
68FoxO signaling pathway_Homo sapiens_hsa040680.66410948
69Ether lipid metabolism_Homo sapiens_hsa005650.66322402
70mTOR signaling pathway_Homo sapiens_hsa041500.62236407
71Synaptic vesicle cycle_Homo sapiens_hsa047210.59735389
72Glycerolipid metabolism_Homo sapiens_hsa005610.59524238
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.58733343
74RNA transport_Homo sapiens_hsa030130.56800651
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56308745
76Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.55793422
77Tight junction_Homo sapiens_hsa045300.54211719
78AMPK signaling pathway_Homo sapiens_hsa041520.53390650
79Choline metabolism in cancer_Homo sapiens_hsa052310.52727119
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52010368
81Lysine degradation_Homo sapiens_hsa003100.51867058
82Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.51866391
83Homologous recombination_Homo sapiens_hsa034400.51417420
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49939613
85Amphetamine addiction_Homo sapiens_hsa050310.49727616
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.48357743
87PPAR signaling pathway_Homo sapiens_hsa033200.46603371
88Pancreatic secretion_Homo sapiens_hsa049720.44689556
89Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.44476957
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.44344571
91Peroxisome_Homo sapiens_hsa041460.43971446
92Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.41894487
93Platelet activation_Homo sapiens_hsa046110.40091555
94Phenylalanine metabolism_Homo sapiens_hsa003600.39749474
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.38802504
96Estrogen signaling pathway_Homo sapiens_hsa049150.35278638
97Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.33081292
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32006342
99Maturity onset diabetes of the young_Homo sapiens_hsa049500.31010148
100Histidine metabolism_Homo sapiens_hsa003400.30510144

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