PIGUP1

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
1somite rostral/caudal axis specification (GO:0032525)8.91115583
2regulation of development, heterochronic (GO:0040034)7.12994631
3proline transport (GO:0015824)6.66253479
4regulation of timing of cell differentiation (GO:0048505)5.79638502
5response to pheromone (GO:0019236)5.63292193
6negative regulation of synaptic transmission, GABAergic (GO:0032229)5.59469510
7cochlea development (GO:0090102)5.54786590
8neuromuscular process controlling posture (GO:0050884)5.16643548
9retinal cone cell development (GO:0046549)5.14965384
10neurofilament cytoskeleton organization (GO:0060052)4.74655253
11post-anal tail morphogenesis (GO:0036342)4.70164455
12neurotransmitter-gated ion channel clustering (GO:0072578)4.62268890
13negative regulation of translation, ncRNA-mediated (GO:0040033)4.60636222
14regulation of translation, ncRNA-mediated (GO:0045974)4.60636222
15negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.60636222
16neuronal action potential propagation (GO:0019227)4.41140927
17glutamate receptor signaling pathway (GO:0007215)4.37348233
18positive regulation of amino acid transport (GO:0051957)4.32245885
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.29734901
20regulation of chemokine-mediated signaling pathway (GO:0070099)4.27570022
21heparin biosynthetic process (GO:0030210)4.08708631
22heparin metabolic process (GO:0030202)4.08708631
23RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.95342891
24tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.95342891
25detection of light stimulus involved in visual perception (GO:0050908)3.93772453
26detection of light stimulus involved in sensory perception (GO:0050962)3.93772453
27G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.93219202
28response to dietary excess (GO:0002021)3.92139492
29negative regulation of calcium ion-dependent exocytosis (GO:0045955)3.88205837
30glycoprotein biosynthetic process (GO:0009101)3.68467890
31detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.63696838
32regulation of feeding behavior (GO:0060259)3.62507523
33DNA double-strand break processing (GO:0000729)3.60377821
34neuronal action potential (GO:0019228)3.59320474
35positive regulation of cell size (GO:0045793)3.56986766
36G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.55941487
37embryonic axis specification (GO:0000578)3.49649924
38regulation of axon regeneration (GO:0048679)3.46005068
39regulation of neuron projection regeneration (GO:0070570)3.46005068
40behavioral response to ethanol (GO:0048149)3.45707904
41negative regulation of astrocyte differentiation (GO:0048712)3.43307628
42gamma-aminobutyric acid signaling pathway (GO:0007214)3.40225663
43positive regulation of actin cytoskeleton reorganization (GO:2000251)3.39203852
44negative chemotaxis (GO:0050919)3.38734574
45negative regulation of axon extension (GO:0030517)3.35855159
46membrane depolarization during action potential (GO:0086010)3.29014210
47synaptic transmission, cholinergic (GO:0007271)3.25040873
48detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.24965050
49lung-associated mesenchyme development (GO:0060484)3.18906667
50neurotransmitter secretion (GO:0007269)3.16579187
51lipid translocation (GO:0034204)3.16282010
52phospholipid translocation (GO:0045332)3.16282010
53DNA integration (GO:0015074)3.14386185
54bone morphogenesis (GO:0060349)3.13904424
55lens fiber cell differentiation (GO:0070306)3.13617338
56cullin deneddylation (GO:0010388)3.10523222
57establishment of mitochondrion localization (GO:0051654)3.08943576
58peroxisome fission (GO:0016559)3.08400931
59dopamine transport (GO:0015872)3.04607439
60regulation of vesicle fusion (GO:0031338)3.03415963
61pyrimidine nucleobase catabolic process (GO:0006208)3.03159416
62regulation of energy homeostasis (GO:2000505)3.01288968
63positive regulation of growth hormone secretion (GO:0060124)3.01133122
64regulation of meiosis I (GO:0060631)2.99229536
65mitochondrion morphogenesis (GO:0070584)2.96045120
66positive regulation of action potential (GO:0045760)2.94303344
67mitochondrial calcium ion homeostasis (GO:0051560)2.92690958
68pseudouridine synthesis (GO:0001522)2.88749371
69mitochondrial respiratory chain complex I assembly (GO:0032981)2.86329172
70NADH dehydrogenase complex assembly (GO:0010257)2.86329172
71mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.86329172
72regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.85601096
73positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.85601096
74positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.84887431
75neuron recognition (GO:0008038)2.84571594
76positive regulation of vesicle fusion (GO:0031340)2.83418462
77positive regulation of microtubule polymerization (GO:0031116)2.82925089
78mitochondrial respiratory chain complex assembly (GO:0033108)2.82894974
79DNA damage response, detection of DNA damage (GO:0042769)2.81443840
80layer formation in cerebral cortex (GO:0021819)2.81219248
81protein complex biogenesis (GO:0070271)2.77594091
82nucleobase catabolic process (GO:0046113)2.76668899
83calcium ion import (GO:0070509)2.76554321
84piRNA metabolic process (GO:0034587)2.76034513
85transmission of nerve impulse (GO:0019226)2.73699728
86sex determination (GO:0007530)2.73663405
87O-glycan processing (GO:0016266)2.73167647
88base-excision repair, AP site formation (GO:0006285)2.73146974
89vocalization behavior (GO:0071625)2.72394318
90adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.71270478
91histone mRNA catabolic process (GO:0071044)2.63440735
92protein deneddylation (GO:0000338)2.63309753
93pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.63176113
94synaptic transmission, glutamatergic (GO:0035249)2.61752561
95mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.61639751
96neurotransmitter transport (GO:0006836)2.60725115
97establishment of protein localization to mitochondrial membrane (GO:0090151)2.60098267
98protein-cofactor linkage (GO:0018065)2.59578406
99histone mRNA metabolic process (GO:0008334)2.59482868
100gamma-aminobutyric acid transport (GO:0015812)11.2786311

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human4.55952263
2TAF15_26573619_Chip-Seq_HEK293_Human4.26080224
3GBX2_23144817_ChIP-Seq_PC3_Human4.25976905
4ZNF274_21170338_ChIP-Seq_K562_Hela3.69547229
5VDR_22108803_ChIP-Seq_LS180_Human3.68777727
6ELF1_17652178_ChIP-ChIP_JURKAT_Human3.18750540
7ZFP57_27257070_Chip-Seq_ESCs_Mouse3.14601986
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.78135092
9FUS_26573619_Chip-Seq_HEK293_Human2.66714721
10EWS_26573619_Chip-Seq_HEK293_Human2.62529616
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.48348275
12IGF1R_20145208_ChIP-Seq_DFB_Human2.34637151
13BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.26457661
14EZH2_22144423_ChIP-Seq_EOC_Human2.11236508
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.01303051
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.00859032
17UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human2.00455931
18REST_21632747_ChIP-Seq_MESCs_Mouse2.00353639
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.99949810
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96436989
21CTBP1_25329375_ChIP-Seq_LNCAP_Human1.96057085
22SMAD4_21799915_ChIP-Seq_A2780_Human1.82809794
23IRF1_19129219_ChIP-ChIP_H3396_Human1.81924054
24CBP_20019798_ChIP-Seq_JUKART_Human1.81609727
25IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.81609727
26MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.80587339
27P300_19829295_ChIP-Seq_ESCs_Human1.80309312
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.79825165
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.78204285
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76506588
31AR_25329375_ChIP-Seq_VCAP_Human1.76490425
32PIAS1_25552417_ChIP-Seq_VCAP_Human1.70959096
33MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.69374336
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69083398
35AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.64281425
36EST1_17652178_ChIP-ChIP_JURKAT_Human1.60890847
37CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.57294800
38MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.53961305
39STAT3_23295773_ChIP-Seq_U87_Human1.52025244
40OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50772330
41FLI1_27457419_Chip-Seq_LIVER_Mouse1.49112878
42MYC_18940864_ChIP-ChIP_HL60_Human1.45607270
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45277850
44TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43910110
45FOXA1_21572438_ChIP-Seq_LNCaP_Human1.42671657
46KLF5_20875108_ChIP-Seq_MESCs_Mouse1.42250227
47ETV2_25802403_ChIP-Seq_MESCs_Mouse1.40802370
48POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.35690136
49TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35690136
50HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.33660759
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.33430792
52AUTS2_25519132_ChIP-Seq_293T-REX_Human1.33356113
53FOXA1_25329375_ChIP-Seq_VCAP_Human1.33173179
54FOXA1_27270436_Chip-Seq_PROSTATE_Human1.33173179
55RNF2_27304074_Chip-Seq_NSC_Mouse1.32154147
56VDR_23849224_ChIP-Seq_CD4+_Human1.31593453
57SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25497904
58JARID2_20064375_ChIP-Seq_MESCs_Mouse1.24682585
59FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.23735084
60RUNX2_22187159_ChIP-Seq_PCA_Human1.21693491
61TCF4_23295773_ChIP-Seq_U87_Human1.21588571
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.20753638
63ER_23166858_ChIP-Seq_MCF-7_Human1.19404595
64TAL1_26923725_Chip-Seq_HPCs_Mouse1.18794351
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.17626444
66CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.17344413
67GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.15881508
68SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.15517017
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.14666224
70AR_21572438_ChIP-Seq_LNCaP_Human1.13445868
71RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12088234
72SOX2_19829295_ChIP-Seq_ESCs_Human1.08848559
73NANOG_19829295_ChIP-Seq_ESCs_Human1.08848559
74SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.05646109
75TP53_22573176_ChIP-Seq_HFKS_Human1.05264688
76TP63_19390658_ChIP-ChIP_HaCaT_Human1.04544745
77TCF4_22108803_ChIP-Seq_LS180_Human1.04188162
78SOX2_21211035_ChIP-Seq_LN229_Gbm1.03921801
79E2F4_17652178_ChIP-ChIP_JURKAT_Human1.03668423
80CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02097016
81JUN_21703547_ChIP-Seq_K562_Human1.02011884
82SMAD4_21741376_ChIP-Seq_EPCs_Human1.01522048
83NANOG_18555785_Chip-Seq_ESCs_Mouse1.01514530
84DROSHA_22980978_ChIP-Seq_HELA_Human1.00803706
85PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00484858
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00477496
87SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.99355711
88NR3C1_23031785_ChIP-Seq_PC12_Mouse0.99003341
89FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98876467
90RXR_22108803_ChIP-Seq_LS180_Human0.96769069
91EZH2_27294783_Chip-Seq_NPCs_Mouse0.96443826
92EZH2_27304074_Chip-Seq_ESCs_Mouse0.96040140
93PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95554952
94BCAT_22108803_ChIP-Seq_LS180_Human0.94809941
95EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.94689607
96ELK1_19687146_ChIP-ChIP_HELA_Human0.94641610
97PRDM14_20953172_ChIP-Seq_ESCs_Human0.93245684
98NCOR_22424771_ChIP-Seq_293T_Human0.92502047
99CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.90858814
100EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90650699

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000566_synostosis4.55040222
2MP0004134_abnormal_chest_morphology4.47165364
3MP0002102_abnormal_ear_morphology3.85569565
4MP0001986_abnormal_taste_sensitivity3.64702688
5MP0003880_abnormal_central_pattern3.27945668
6MP0005670_abnormal_white_adipose3.02182049
7MP0009745_abnormal_behavioral_response2.87544190
8MP0001968_abnormal_touch/_nociception2.73366866
9MP0003567_abnormal_fetal_cardiomyocyte2.60495095
10MP0002822_catalepsy2.55357173
11MP0008877_abnormal_DNA_methylation2.51772598
12MP0002272_abnormal_nervous_system2.43580808
13MP0001440_abnormal_grooming_behavior2.37019735
14MP0001486_abnormal_startle_reflex2.34324384
15MP0003635_abnormal_synaptic_transmissio2.31681918
16MP0001177_atelectasis2.30950309
17MP0008260_abnormal_autophagy2.19227969
18MP0003183_abnormal_peptide_metabolism2.17248535
19MP0004270_analgesia2.14364169
20MP0002837_dystrophic_cardiac_calcinosis2.10224102
21MP0009046_muscle_twitch2.02794434
22MP0002733_abnormal_thermal_nociception1.98454232
23MP0002064_seizures1.93376143
24MP0002139_abnormal_hepatobiliary_system1.84991891
25MP0004859_abnormal_synaptic_plasticity1.82996116
26MP0005423_abnormal_somatic_nervous1.79265511
27MP0002736_abnormal_nociception_after1.75373219
28MP0004043_abnormal_pH_regulation1.69886402
29MP0006138_congestive_heart_failure1.68709153
30MP0008058_abnormal_DNA_repair1.47794287
31MP0000516_abnormal_urinary_system1.42034107
32MP0005367_renal/urinary_system_phenotyp1.42034107
33MP0001970_abnormal_pain_threshold1.41066448
34MP0002067_abnormal_sensory_capabilities1.39232452
35MP0002572_abnormal_emotion/affect_behav1.31331672
36MP0004142_abnormal_muscle_tone1.30178527
37MP0002734_abnormal_mechanical_nocicepti1.27843582
38MP0003806_abnormal_nucleotide_metabolis1.27608964
39MP0000462_abnormal_digestive_system1.25612279
40MP0002184_abnormal_innervation1.25165825
41MP0002063_abnormal_learning/memory/cond1.22301195
42MP0001764_abnormal_homeostasis1.18072336
43MP0004215_abnormal_myocardial_fiber1.16338490
44MP0005084_abnormal_gallbladder_morpholo1.16005257
45MP0005551_abnormal_eye_electrophysiolog1.15927520
46MP0004924_abnormal_behavior1.15736943
47MP0005386_behavior/neurological_phenoty1.15736943
48MP0001188_hyperpigmentation1.12614218
49MP0000372_irregular_coat_pigmentation1.11125638
50MP0008875_abnormal_xenobiotic_pharmacok1.10439184
51MP0001529_abnormal_vocalization1.09848411
52MP0005646_abnormal_pituitary_gland1.07141040
53MP0008961_abnormal_basal_metabolism1.06789149
54MP0008872_abnormal_physiological_respon1.05229498
55MP0000569_abnormal_digit_pigmentation1.02443826
56MP0002735_abnormal_chemical_nociception1.01758131
57MP0000631_abnormal_neuroendocrine_gland0.99736125
58MP0001984_abnormal_olfaction0.99581882
59MP0006292_abnormal_olfactory_placode0.99195734
60MP0001485_abnormal_pinna_reflex0.97129235
61MP0001501_abnormal_sleep_pattern0.96977268
62MP0003121_genomic_imprinting0.92711987
63MP0008775_abnormal_heart_ventricle0.91323065
64MP0005451_abnormal_body_composition0.91265596
65MP0003755_abnormal_palate_morphology0.91178701
66MP0005385_cardiovascular_system_phenoty0.90064292
67MP0001544_abnormal_cardiovascular_syste0.90064292
68MP0003718_maternal_effect0.89560238
69MP0004145_abnormal_muscle_electrophysio0.89151842
70MP0002069_abnormal_eating/drinking_beha0.88956130
71MP0003123_paternal_imprinting0.88510591
72MP0000049_abnormal_middle_ear0.85179384
73MP0003115_abnormal_respiratory_system0.85142599
74MP0008995_early_reproductive_senescence0.83479969
75MP0004811_abnormal_neuron_physiology0.81212281
76MP0002295_abnormal_pulmonary_circulatio0.80543489
77MP0003633_abnormal_nervous_system0.79910348
78MP0003137_abnormal_impulse_conducting0.78351561
79MP0000778_abnormal_nervous_system0.77147515
80MP0000013_abnormal_adipose_tissue0.75449352
81MP0000733_abnormal_muscle_development0.74530067
82MP0002557_abnormal_social/conspecific_i0.73989894
83MP0009780_abnormal_chondrocyte_physiolo0.73776116
84MP0002066_abnormal_motor_capabilities/c0.73096784
85MP0003698_abnormal_male_reproductive0.72823711
86MP0006276_abnormal_autonomic_nervous0.71688704
87MP0008569_lethality_at_weaning0.68400816
88MP0005448_abnormal_energy_balance0.66630722
89MP0000639_abnormal_adrenal_gland0.65327014
90MP0002254_reproductive_system_inflammat0.64449123
91MP0002210_abnormal_sex_determination0.63872939
92MP0008057_abnormal_DNA_replication0.63176710
93MP0005666_abnormal_adipose_tissue0.62513989
94MP0000026_abnormal_inner_ear0.62355572
95MP0002882_abnormal_neuron_morphology0.58881920
96MP0005075_abnormal_melanosome_morpholog0.58687590
97MP0002229_neurodegeneration0.57399901
98MP0002106_abnormal_muscle_physiology0.57322083
99MP0002277_abnormal_respiratory_mucosa0.56791331
100MP0001963_abnormal_hearing_physiology0.55308851

Predicted human phenotypes

RankGene SetZ-score
1Synostosis involving the elbow (HP:0003938)5.75746885
2Humeroradial synostosis (HP:0003041)5.75746885
3Atonic seizures (HP:0010819)5.06208119
4Focal motor seizures (HP:0011153)4.99638049
5Inability to walk (HP:0002540)4.50594367
6Progressive inability to walk (HP:0002505)4.47773186
7Bradycardia (HP:0001662)4.36422149
8Hypothermia (HP:0002045)4.33744329
9Febrile seizures (HP:0002373)3.84928354
10Hemiparesis (HP:0001269)3.77528742
11Symphalangism affecting the phalanges of the hand (HP:0009773)3.70920263
12Absence seizures (HP:0002121)3.63698665
13Focal seizures (HP:0007359)3.59483295
14Decreased number of large peripheral myelinated nerve fibers (HP:0003387)3.47559128
15Poor eye contact (HP:0000817)3.29927603
16Dialeptic seizures (HP:0011146)3.23160158
17Barrel-shaped chest (HP:0001552)3.04538938
18Limb hypertonia (HP:0002509)3.03796302
19Acute encephalopathy (HP:0006846)3.01754567
20Congenital stationary night blindness (HP:0007642)2.91303530
21Hyperglycinemia (HP:0002154)2.91086526
22Abnormal social behavior (HP:0012433)2.88273064
23Impaired social interactions (HP:0000735)2.88273064
24Cupped ear (HP:0000378)2.85991249
25Prominent metopic ridge (HP:0005487)2.85922902
26CNS hypomyelination (HP:0003429)2.83665864
27Ulnar claw (HP:0001178)2.83092357
28Gaze-evoked nystagmus (HP:0000640)2.78989950
29Action tremor (HP:0002345)2.74057316
30Optic nerve hypoplasia (HP:0000609)2.67110005
31Cerebellar dysplasia (HP:0007033)2.66822334
32Exertional dyspnea (HP:0002875)2.64884283
33Astrocytoma (HP:0009592)2.60947896
34Abnormality of the astrocytes (HP:0100707)2.60947896
35Hyperglycinuria (HP:0003108)2.54857032
36Increased serum pyruvate (HP:0003542)2.54141871
37Global brain atrophy (HP:0002283)2.53387502
38Spontaneous abortion (HP:0005268)2.52169339
39Peripheral hypomyelination (HP:0007182)2.49752105
40Abnormality of the metopic suture (HP:0005556)2.45108907
41Lissencephaly (HP:0001339)2.43321350
42Hypsarrhythmia (HP:0002521)2.42963351
43Increased hepatocellular lipid droplets (HP:0006565)2.42243920
44Acute necrotizing encephalopathy (HP:0006965)2.41268582
45Lipid accumulation in hepatocytes (HP:0006561)2.40025787
46Hemiplegia (HP:0002301)2.38142435
47Generalized tonic-clonic seizures (HP:0002069)2.35968032
48Type II lissencephaly (HP:0007260)2.32410709
49Epileptiform EEG discharges (HP:0011182)2.29644610
50Ependymoma (HP:0002888)2.28358695
51Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.28315115
52EEG with generalized epileptiform discharges (HP:0011198)2.27407630
53Glioma (HP:0009733)2.26472102
54Congenital, generalized hypertrichosis (HP:0004540)2.18429804
55Progressive microcephaly (HP:0000253)2.17873716
56Abnormality of serine family amino acid metabolism (HP:0010894)2.16875338
57Abnormality of glycine metabolism (HP:0010895)2.16875338
58Abnormality of glycolysis (HP:0004366)2.16423697
59Atrial fibrillation (HP:0005110)2.15812343
60Ankle clonus (HP:0011448)2.14064492
61Muscular hypotonia of the trunk (HP:0008936)2.13848037
62Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.13517574
63Progressive macrocephaly (HP:0004481)2.13430878
64Absent eyebrow (HP:0002223)2.10637840
65Slender build (HP:0001533)2.07940991
66Glycosuria (HP:0003076)2.07908814
67Abnormality of urine glucose concentration (HP:0011016)2.07908814
68Abnormality of the pubic bones (HP:0003172)2.07674133
69Status epilepticus (HP:0002133)2.07462647
70Increased CSF lactate (HP:0002490)2.05388236
71Mitochondrial inheritance (HP:0001427)2.03837268
72Nephronophthisis (HP:0000090)2.03385428
73Abnormal mitochondria in muscle tissue (HP:0008316)2.00774737
74Neoplasm of the adrenal cortex (HP:0100641)1.98487825
75Primary atrial arrhythmia (HP:0001692)1.97010159
76Thyroid-stimulating hormone excess (HP:0002925)1.95600659
77Absent septum pellucidum (HP:0001331)1.93360728
78Colon cancer (HP:0003003)1.91578805
79Septo-optic dysplasia (HP:0100842)1.87374009
80Amblyopia (HP:0000646)1.86416482
81Irregular epiphyses (HP:0010582)1.84927126
82Mesomelia (HP:0003027)1.84419568
83Myokymia (HP:0002411)1.83757655
84Cerebral hemorrhage (HP:0001342)1.82578736
85Aplasia/hypoplasia of the uterus (HP:0008684)1.81831246
86Supraventricular tachycardia (HP:0004755)1.81774913
87Absent eyelashes (HP:0000561)1.80618687
88Submucous cleft hard palate (HP:0000176)1.79426312
89Increased intramyocellular lipid droplets (HP:0012240)1.79386141
90Lower limb hyperreflexia (HP:0002395)1.79041407
91Carpal bone hypoplasia (HP:0001498)1.78843262
92Unsteady gait (HP:0002317)1.77328481
93Decreased electroretinogram (ERG) amplitude (HP:0000654)1.75537441
94Absent speech (HP:0001344)1.74718167
95Supraventricular arrhythmia (HP:0005115)1.74261674
96Hyperventilation (HP:0002883)1.73658550
97Childhood onset (HP:0011463)1.72392354
98Neonatal onset (HP:0003623)1.70992182
99Fibular aplasia (HP:0002990)1.69971805
100Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.69047618

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.25725311
2FRK3.64511645
3MAP3K63.54333597
4SIK23.27805800
5STK38L2.95797743
6MARK12.95148121
7PINK12.92790850
8MAP3K42.81528951
9BRD42.75921982
10RPS6KA42.67631490
11MAP4K22.27106798
12TNK22.25226040
13FGFR22.07387682
14MAP2K72.00481442
15MAPK131.97397789
16AKT31.85862096
17MAP2K41.85071835
18MAP3K51.73005186
19TAOK31.69706713
20TSSK61.63146498
21NTRK21.54698852
22NEK61.51626614
23MAPKAPK31.50416780
24NME11.49265872
25MAP2K61.47617514
26NEK11.47503060
27CDK31.41163133
28ICK1.37418025
29MINK11.36816894
30TYRO31.33351547
31WNK31.27682205
32CASK1.26803279
33TLK11.24767790
34PRKCG1.11209900
35ADRBK21.08602098
36MAP2K31.07748994
37GRK11.06498191
38CSNK1G10.98354918
39DYRK20.94343692
40INSRR0.92541557
41CCNB10.91816558
42ZAK0.88027533
43WNK10.80798261
44STK160.80553513
45IRAK10.79768169
46BRAF0.78969893
47TRIM280.78401836
48RIPK10.77623657
49RPS6KA50.77522545
50STK380.77008865
51EPHA40.75288700
52PRKCE0.75086568
53DAPK10.71449159
54RET0.69760710
55TNIK0.68832949
56CSNK1G30.66103497
57CDK50.64359630
58PLK30.60477166
59CAMK2G0.60217145
60CLK10.59340247
61CSNK1A1L0.56249002
62MST40.55821346
63ITK0.55224861
64PRKCZ0.54653396
65CSNK1E0.54319337
66MAP3K70.53298211
67SRPK10.49085696
68YES10.48792232
69IGF1R0.48452431
70BMPR1B0.48382343
71ADRBK10.47183528
72ABL10.44299507
73GRK70.39539286
74PRKCA0.39464139
75PRKACA0.35922336
76TTK0.35208037
77PIK3CA0.34213935
78CSNK1G20.33896378
79BCR0.33460619
80CDC70.32522461
81PRKCB0.32218660
82TXK0.31891065
83INSR0.31336882
84VRK10.31306900
85PLK20.29624437
86CHEK20.29486400
87PRKACG0.29426720
88PKN10.28731557
89MKNK20.28026516
90ATR0.27349061
91IKBKE0.27313925
92NLK0.26754826
93ERBB20.25779098
94TEC0.25632518
95RPS6KA10.25316117
96TIE10.25075833
97ATM0.24986933
98CSNK1A10.24251237
99PRKG10.23934193
100ERBB40.23413440

Predicted pathways (KEGG)

RankGene SetZ-score
1Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005125.38831100
2Nicotine addiction_Homo sapiens_hsa050335.01357577
3Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.69133026
4Phototransduction_Homo sapiens_hsa047443.03855681
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.89564827
6Taste transduction_Homo sapiens_hsa047422.67838893
7GABAergic synapse_Homo sapiens_hsa047272.32564448
8Basal transcription factors_Homo sapiens_hsa030222.29687665
9Butanoate metabolism_Homo sapiens_hsa006502.21674665
10Fanconi anemia pathway_Homo sapiens_hsa034602.01406678
11Propanoate metabolism_Homo sapiens_hsa006401.90162615
12Cyanoamino acid metabolism_Homo sapiens_hsa004601.88909103
13Glutamatergic synapse_Homo sapiens_hsa047241.69782576
14Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.67803024
15RNA polymerase_Homo sapiens_hsa030201.67537312
16Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.64500115
17Dopaminergic synapse_Homo sapiens_hsa047281.63860268
18Pentose and glucuronate interconversions_Homo sapiens_hsa000401.56106064
19Morphine addiction_Homo sapiens_hsa050321.54446977
20RNA degradation_Homo sapiens_hsa030181.42537039
21Oxidative phosphorylation_Homo sapiens_hsa001901.42286164
22Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.40789391
23Circadian entrainment_Homo sapiens_hsa047131.40087354
24Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.37653519
25Regulation of autophagy_Homo sapiens_hsa041401.33644684
26Proteasome_Homo sapiens_hsa030501.31643058
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30202450
28Olfactory transduction_Homo sapiens_hsa047401.23916044
29Steroid biosynthesis_Homo sapiens_hsa001001.22862138
30Sphingolipid metabolism_Homo sapiens_hsa006001.21898824
31Parkinsons disease_Homo sapiens_hsa050121.17292926
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.14765268
33Salivary secretion_Homo sapiens_hsa049701.06396938
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.06126801
35Retinol metabolism_Homo sapiens_hsa008301.04669802
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.04359444
37Asthma_Homo sapiens_hsa053100.99278517
38Homologous recombination_Homo sapiens_hsa034400.91370492
39Cysteine and methionine metabolism_Homo sapiens_hsa002700.90554826
40Non-homologous end-joining_Homo sapiens_hsa034500.90390622
41Amphetamine addiction_Homo sapiens_hsa050310.90150913
42Purine metabolism_Homo sapiens_hsa002300.82788283
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82164172
44Cocaine addiction_Homo sapiens_hsa050300.81518377
45Linoleic acid metabolism_Homo sapiens_hsa005910.79315842
46Cardiac muscle contraction_Homo sapiens_hsa042600.79011471
47Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.78537401
48Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.78316483
49Huntingtons disease_Homo sapiens_hsa050160.77393598
50Tryptophan metabolism_Homo sapiens_hsa003800.77236634
51Serotonergic synapse_Homo sapiens_hsa047260.75401351
52RNA transport_Homo sapiens_hsa030130.75198925
53Calcium signaling pathway_Homo sapiens_hsa040200.74827775
54Vitamin B6 metabolism_Homo sapiens_hsa007500.72085323
55Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.72030370
56Intestinal immune network for IgA production_Homo sapiens_hsa046720.71570321
57Alzheimers disease_Homo sapiens_hsa050100.70568162
58Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.69587627
59Type I diabetes mellitus_Homo sapiens_hsa049400.68026385
60Chemical carcinogenesis_Homo sapiens_hsa052040.67030009
61Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.64045395
62cAMP signaling pathway_Homo sapiens_hsa040240.58810834
63Systemic lupus erythematosus_Homo sapiens_hsa053220.56734059
64Insulin secretion_Homo sapiens_hsa049110.54123238
65Metabolic pathways_Homo sapiens_hsa011000.53911670
66Caffeine metabolism_Homo sapiens_hsa002320.53879273
67Fat digestion and absorption_Homo sapiens_hsa049750.53491495
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.52875821
69Vitamin digestion and absorption_Homo sapiens_hsa049770.52272930
70Maturity onset diabetes of the young_Homo sapiens_hsa049500.49570072
71Selenocompound metabolism_Homo sapiens_hsa004500.46442131
72Peroxisome_Homo sapiens_hsa041460.45545618
73Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45204403
74Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43943380
75Long-term depression_Homo sapiens_hsa047300.41876495
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41754660
77NOD-like receptor signaling pathway_Homo sapiens_hsa046210.41367123
78Melanoma_Homo sapiens_hsa052180.40893745
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.39356302
80Type II diabetes mellitus_Homo sapiens_hsa049300.38126034
81Pyrimidine metabolism_Homo sapiens_hsa002400.37838525
82Dorso-ventral axis formation_Homo sapiens_hsa043200.35986551
83Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.35473073
84Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35286165
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.34159617
86Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.33911925
87Steroid hormone biosynthesis_Homo sapiens_hsa001400.33084924
88beta-Alanine metabolism_Homo sapiens_hsa004100.33061130
89Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.32830079
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30994005
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.29215587
92Autoimmune thyroid disease_Homo sapiens_hsa053200.28427571
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.28143197
94alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.27942211
95Protein export_Homo sapiens_hsa030600.27841301
96One carbon pool by folate_Homo sapiens_hsa006700.27488214
97Synaptic vesicle cycle_Homo sapiens_hsa047210.27318860
98Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.26811830
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26123413
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25918058

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