PGBD4P3

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
1positive regulation of catecholamine secretion (GO:0033605)5.39430496
2positive regulation of synaptic transmission, dopaminergic (GO:0032226)5.38612291
3coenzyme catabolic process (GO:0009109)5.21122675
4presynaptic membrane assembly (GO:0097105)4.97770264
5histone H3-K9 demethylation (GO:0033169)4.53016822
6negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.47117509
7negative regulation of synaptic transmission, GABAergic (GO:0032229)4.43855116
8regulation of oxidative stress-induced neuron death (GO:1903203)4.37056584
9activation of protein kinase B activity (GO:0032148)4.31111118
10response to muscle activity (GO:0014850)4.28119964
11neurotransmitter-gated ion channel clustering (GO:0072578)4.27436372
12DNA integration (GO:0015074)4.25770466
13postsynaptic membrane organization (GO:0001941)4.23561865
14DNA double-strand break processing (GO:0000729)4.19512892
15presynaptic membrane organization (GO:0097090)4.00429688
16pyrimidine nucleobase catabolic process (GO:0006208)3.95403087
17positive regulation of amine transport (GO:0051954)3.90582051
18epithelial cilium movement (GO:0003351)3.82001392
19regulation of autophagic vacuole assembly (GO:2000785)3.75624723
20cellular response to zinc ion (GO:0071294)3.73368549
21neuron cell-cell adhesion (GO:0007158)3.68460378
22righting reflex (GO:0060013)3.67916048
23ventricular system development (GO:0021591)3.64746743
24negative regulation of striated muscle cell apoptotic process (GO:0010664)3.62814199
25muscle cell cellular homeostasis (GO:0046716)3.51273786
26negative regulation of calcium ion-dependent exocytosis (GO:0045955)3.42723441
27positive regulation of amino acid transport (GO:0051957)3.36172773
28gamma-aminobutyric acid transport (GO:0015812)3.35289905
29microtubule depolymerization (GO:0007019)3.32476285
30positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.32114487
31protein polyglutamylation (GO:0018095)3.31354944
32auditory behavior (GO:0031223)3.29663559
33regulation of dopamine secretion (GO:0014059)3.29623627
34multicellular organism reproduction (GO:0032504)3.29327545
35regulation of phosphoprotein phosphatase activity (GO:0043666)3.27573952
36peroxisome fission (GO:0016559)3.25289998
37L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.22533937
38epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.20862559
39histone H3-K36 demethylation (GO:0070544)3.15962676
40negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.14822247
41regulation of vacuole organization (GO:0044088)3.10414463
42startle response (GO:0001964)3.09159299
43myofibril assembly (GO:0030239)3.06675343
44cilium movement (GO:0003341)3.03863384
45ADP metabolic process (GO:0046031)3.01917007
46regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.01687155
47nucleobase catabolic process (GO:0046113)2.92386480
48negative regulation of cytosolic calcium ion concentration (GO:0051481)2.91622206
49tongue development (GO:0043586)2.90747928
50relaxation of smooth muscle (GO:0044557)2.89606835
51regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.88328027
52muscle fiber development (GO:0048747)2.86324124
53calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.83985281
54regulation of acyl-CoA biosynthetic process (GO:0050812)2.82653166
55positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)2.82148180
56histone lysine demethylation (GO:0070076)2.81670699
57cGMP-mediated signaling (GO:0019934)2.81467962
58negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.80419313
59negative regulation of translation, ncRNA-mediated (GO:0040033)2.80419313
60regulation of translation, ncRNA-mediated (GO:0045974)2.80419313
61lateral sprouting from an epithelium (GO:0060601)2.79120999
62amino acid salvage (GO:0043102)2.77921618
63L-methionine salvage (GO:0071267)2.77921618
64L-methionine biosynthetic process (GO:0071265)2.77921618
65cilium morphogenesis (GO:0060271)2.77859537
66histone demethylation (GO:0016577)2.77674759
67cofactor catabolic process (GO:0051187)2.75741047
68protein dealkylation (GO:0008214)2.70260856
69protein demethylation (GO:0006482)2.70260856
70negative regulation of DNA binding (GO:0043392)2.68557116
71intraciliary transport (GO:0042073)2.68364269
72regulation of synaptic transmission, dopaminergic (GO:0032225)2.67076771
73regulation of synaptic transmission, GABAergic (GO:0032228)2.66572769
74protein localization to cilium (GO:0061512)2.65928723
75positive regulation of mitochondrial fission (GO:0090141)2.65743613
76nucleoside diphosphate phosphorylation (GO:0006165)2.63322522
77seminiferous tubule development (GO:0072520)2.62411026
78regulation of relaxation of muscle (GO:1901077)2.60684543
79acrosome reaction (GO:0007340)2.59950190
80glycosphingolipid biosynthetic process (GO:0006688)2.57929746
81regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.56730356
82regulation of amino acid transport (GO:0051955)2.56155158
83barbed-end actin filament capping (GO:0051016)2.53170768
84limb bud formation (GO:0060174)2.51719885
85regulation of cofactor metabolic process (GO:0051193)2.48303231
86regulation of coenzyme metabolic process (GO:0051196)2.48303231
87mRNA cleavage (GO:0006379)2.46086685
88peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.46020646
89oligosaccharide biosynthetic process (GO:0009312)2.43942962
90regulation of protein kinase A signaling (GO:0010738)2.43743681
91single fertilization (GO:0007338)2.43433735
92response to nitrosative stress (GO:0051409)2.42982996
93regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.42383431
94positive regulation of synaptic transmission, GABAergic (GO:0032230)2.39751189
95male meiosis (GO:0007140)2.38915531
96regulation of cellular respiration (GO:0043457)2.37740678
97response to auditory stimulus (GO:0010996)2.37243400
98protein localization to synapse (GO:0035418)2.37082979
99motile cilium assembly (GO:0044458)2.36531422
100regulation of phospholipase A2 activity (GO:0032429)2.35367598

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.83524853
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.82350858
3ZFP322A_24550733_ChIP-Seq_MESCs_Mouse4.49807813
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.92468075
5EZH2_22144423_ChIP-Seq_EOC_Human3.86665190
6IGF1R_20145208_ChIP-Seq_DFB_Human3.49963810
7VDR_22108803_ChIP-Seq_LS180_Human2.60514218
8ZNF274_21170338_ChIP-Seq_K562_Hela2.60170421
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.53805696
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51983654
11CTBP1_25329375_ChIP-Seq_LNCAP_Human2.35070151
12AR_21572438_ChIP-Seq_LNCaP_Human2.27927849
13P300_19829295_ChIP-Seq_ESCs_Human2.27134848
14CBX2_27304074_Chip-Seq_ESCs_Mouse2.21920474
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18204371
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.09631516
17ER_23166858_ChIP-Seq_MCF-7_Human2.06975460
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.04407920
19TAF15_26573619_Chip-Seq_HEK293_Human2.03027801
20PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.01188250
21FUS_26573619_Chip-Seq_HEK293_Human1.93725719
22SMAD4_21799915_ChIP-Seq_A2780_Human1.89335315
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66089230
24SALL1_21062744_ChIP-ChIP_HESCs_Human1.66029224
25HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.66020742
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.65735774
27TOP2B_26459242_ChIP-Seq_MCF-7_Human1.64237328
28UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62004186
29MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.60411819
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58711189
31IRF1_19129219_ChIP-ChIP_H3396_Human1.58002418
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.57320883
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55526063
34EWS_26573619_Chip-Seq_HEK293_Human1.53118394
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51794853
36RNF2_27304074_Chip-Seq_NSC_Mouse1.51714880
37KLF5_20875108_ChIP-Seq_MESCs_Mouse1.50710128
38AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.47377596
39CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.47027892
40SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.45841025
41SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.45829316
42BCAT_22108803_ChIP-Seq_LS180_Human1.42926662
43IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42350106
44CBP_20019798_ChIP-Seq_JUKART_Human1.42350106
45EZH2_27304074_Chip-Seq_ESCs_Mouse1.41867216
46E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.41010021
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.40808523
48ESR1_20079471_ChIP-ChIP_T-47D_Human1.40026385
49JARID2_20064375_ChIP-Seq_MESCs_Mouse1.39929425
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.35960483
51RUNX2_22187159_ChIP-Seq_PCA_Human1.35391996
52OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31027880
53TCF4_23295773_ChIP-Seq_U87_Human1.30547513
54RXR_22108803_ChIP-Seq_LS180_Human1.28891094
55TCF4_22108803_ChIP-Seq_LS180_Human1.28715977
56STAT3_23295773_ChIP-Seq_U87_Human1.23851604
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22952745
58POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22952745
59AR_25329375_ChIP-Seq_VCAP_Human1.22843739
60TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.22189479
61SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.21066576
62NR3C1_21868756_ChIP-Seq_MCF10A_Human1.21057994
63SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.20993274
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20550913
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.16902975
66EZH2_27294783_Chip-Seq_ESCs_Mouse1.15385621
67MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.13262696
68EED_16625203_ChIP-ChIP_MESCs_Mouse1.12896291
69BP1_19119308_ChIP-ChIP_Hs578T_Human1.12475077
70CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.11756470
71SOX2_21211035_ChIP-Seq_LN229_Gbm1.11492718
72SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.09956486
73KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.09832131
74EZH2_18974828_ChIP-Seq_MESCs_Mouse1.07956021
75RNF2_18974828_ChIP-Seq_MESCs_Mouse1.07956021
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07631115
77GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06334038
78TAL1_26923725_Chip-Seq_HPCs_Mouse1.05855781
79TP53_18474530_ChIP-ChIP_U2OS_Human1.05613547
80P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05159398
81WDR5_24793694_ChIP-Seq_LNCAP_Human1.04070706
82ARNT_22903824_ChIP-Seq_MCF-7_Human1.03956757
83TBL1_22424771_ChIP-Seq_293T_Human1.03853005
84TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02427670
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00281878
86REST_21632747_ChIP-Seq_MESCs_Mouse0.99563768
87PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98124944
88RNF2_27304074_Chip-Seq_ESCs_Mouse0.97827413
89GATA1_26923725_Chip-Seq_HPCs_Mouse0.97610016
90HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.96230705
91CBP_21632823_ChIP-Seq_H3396_Human0.95950070
92CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.94961811
93CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.94637433
94EP300_21415370_ChIP-Seq_HL-1_Mouse0.94593729
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.94051679
96JARID2_20075857_ChIP-Seq_MESCs_Mouse0.93896176
97NANOG_18555785_Chip-Seq_ESCs_Mouse0.93679383
98SMAD4_21741376_ChIP-Seq_EPCs_Human0.92187653
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92047234
100RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.90304644

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001529_abnormal_vocalization5.07233836
2MP0001984_abnormal_olfaction3.11112506
3MP0002837_dystrophic_cardiac_calcinosis2.93892092
4MP0002102_abnormal_ear_morphology2.75864047
5MP0006072_abnormal_retinal_apoptosis2.74318779
6MP0005499_abnormal_olfactory_system2.68930341
7MP0005394_taste/olfaction_phenotype2.68930341
8MP0004859_abnormal_synaptic_plasticity2.68295181
9MP0005248_abnormal_Harderian_gland2.61864152
10MP0003880_abnormal_central_pattern2.58581865
11MP0000749_muscle_degeneration2.50146880
12MP0008004_abnormal_stomach_pH2.47196747
13MP0008789_abnormal_olfactory_epithelium2.37690638
14MP0004084_abnormal_cardiac_muscle2.21824662
15MP0005253_abnormal_eye_physiology2.14730175
16MP0004270_analgesia2.08998811
17MP0003806_abnormal_nucleotide_metabolis2.06079649
18MP0009046_muscle_twitch2.04114997
19MP0006292_abnormal_olfactory_placode1.94502576
20MP0000537_abnormal_urethra_morphology1.94500033
21MP0009697_abnormal_copulation1.86874901
22MP0004215_abnormal_myocardial_fiber1.82320266
23MP0001486_abnormal_startle_reflex1.80408886
24MP0000049_abnormal_middle_ear1.77574210
25MP0006276_abnormal_autonomic_nervous1.77389392
26MP0001485_abnormal_pinna_reflex1.66719755
27MP0005187_abnormal_penis_morphology1.61292529
28MP0000778_abnormal_nervous_system1.57897665
29MP0002127_abnormal_cardiovascular_syste1.53403495
30MP0002160_abnormal_reproductive_system1.51597832
31MP0003315_abnormal_perineum_morphology1.47576677
32MP0003136_yellow_coat_color1.44634376
33MP0003635_abnormal_synaptic_transmissio1.41991471
34MP0005646_abnormal_pituitary_gland1.40350330
35MP0004036_abnormal_muscle_relaxation1.38294359
36MP0001502_abnormal_circadian_rhythm1.37373982
37MP0009745_abnormal_behavioral_response1.37195443
38MP0010368_abnormal_lymphatic_system1.35196312
39MP0004924_abnormal_behavior1.34470532
40MP0005386_behavior/neurological_phenoty1.34470532
41MP0000750_abnormal_muscle_regeneration1.32425172
42MP0002272_abnormal_nervous_system1.31325642
43MP0001905_abnormal_dopamine_level1.30743894
44MP0002734_abnormal_mechanical_nocicepti1.27481676
45MP0002233_abnormal_nose_morphology1.27285946
46MP0002822_catalepsy1.23338566
47MP0001501_abnormal_sleep_pattern1.23171047
48MP0003938_abnormal_ear_development1.20469642
49MP0004811_abnormal_neuron_physiology1.17613560
50MP0002064_seizures1.15427804
51MP0002751_abnormal_autonomic_nervous1.15311878
52MP0000566_synostosis1.14913275
53MP0004885_abnormal_endolymph1.14582617
54MP0004272_abnormal_basement_membrane1.12115607
55MP0000631_abnormal_neuroendocrine_gland1.11548930
56MP0002572_abnormal_emotion/affect_behav1.10555614
57MP0003122_maternal_imprinting1.10493651
58MP0005391_vision/eye_phenotype1.09432343
59MP0010386_abnormal_urinary_bladder1.09272639
60MP0003385_abnormal_body_wall1.08833527
61MP0001968_abnormal_touch/_nociception1.04321480
62MP0005551_abnormal_eye_electrophysiolog1.01555976
63MP0001664_abnormal_digestion1.00791729
64MP0002063_abnormal_learning/memory/cond1.00082289
65MP0002269_muscular_atrophy1.00058869
66MP0000026_abnormal_inner_ear0.99047648
67MP0005330_cardiomyopathy0.98380176
68MP0003755_abnormal_palate_morphology0.97677371
69MP0009250_abnormal_appendicular_skeleto0.97343292
70MP0002557_abnormal_social/conspecific_i0.95470490
71MP0008877_abnormal_DNA_methylation0.94186770
72MP0005623_abnormal_meninges_morphology0.94137231
73MP0004147_increased_porphyrin_level0.93931792
74MP0000751_myopathy0.93523274
75MP0005620_abnormal_muscle_contractility0.92390327
76MP0002282_abnormal_trachea_morphology0.91249984
77MP0002638_abnormal_pupillary_reflex0.89594689
78MP0002108_abnormal_muscle_morphology0.89560519
79MP0002184_abnormal_innervation0.88669838
80MP0002132_abnormal_respiratory_system0.88559310
81MP0002736_abnormal_nociception_after0.88203636
82MP0002067_abnormal_sensory_capabilities0.87301449
83MP0003119_abnormal_digestive_system0.87072842
84MP0000534_abnormal_ureter_morphology0.86922283
85MP0002882_abnormal_neuron_morphology0.86644558
86MP0004484_altered_response_of0.85589900
87MP0002752_abnormal_somatic_nervous0.84639033
88MP0006036_abnormal_mitochondrial_physio0.83971105
89MP0001963_abnormal_hearing_physiology0.79398966
90MP0001270_distended_abdomen0.76922347
91MP0003633_abnormal_nervous_system0.74915380
92MP0002735_abnormal_chemical_nociception0.74799505
93MP0005410_abnormal_fertilization0.74266485
94MP0003698_abnormal_male_reproductive0.73541438
95MP0005367_renal/urinary_system_phenotyp0.73252739
96MP0000516_abnormal_urinary_system0.73252739
97MP0000955_abnormal_spinal_cord0.70649251
98MP0000747_muscle_weakness0.69251922
99MP0002234_abnormal_pharynx_morphology0.69235028
100MP0001544_abnormal_cardiovascular_syste0.69172678

Predicted human phenotypes

RankGene SetZ-score
1Retinal dysplasia (HP:0007973)4.72155181
2Cerebellar dysplasia (HP:0007033)3.86266022
3Rimmed vacuoles (HP:0003805)3.66557756
4Median cleft lip (HP:0000161)3.64332247
5Inability to walk (HP:0002540)3.43471203
6High anterior hairline (HP:0009890)3.40149089
7Type II lissencephaly (HP:0007260)3.25070939
8Sensory axonal neuropathy (HP:0003390)3.08556351
9Clumsiness (HP:0002312)3.06273741
10Abnormality of the shoulder girdle musculature (HP:0001435)3.02526106
11Progressive inability to walk (HP:0002505)3.01424276
12Chronic hepatic failure (HP:0100626)2.98709261
13Pendular nystagmus (HP:0012043)2.94029781
14Urinary urgency (HP:0000012)2.92193163
15Atonic seizures (HP:0010819)2.86642178
16Poor eye contact (HP:0000817)2.86253852
17Short 4th metacarpal (HP:0010044)2.81345046
18Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.81345046
19Scapular winging (HP:0003691)2.76576255
20Hyporeflexia of lower limbs (HP:0002600)2.75222806
21Pancreatic fibrosis (HP:0100732)2.74909009
22Postaxial hand polydactyly (HP:0001162)2.72761166
23Abnormality of the columella (HP:0009929)2.71980673
24Absent speech (HP:0001344)2.71075564
25Exercise-induced muscle cramps (HP:0003710)2.68065815
26Renal dysplasia (HP:0000110)2.64814539
27Resting tremor (HP:0002322)2.60221988
28True hermaphroditism (HP:0010459)2.54461690
29Long clavicles (HP:0000890)2.50413057
30Focal motor seizures (HP:0011153)2.50265289
31Abnormality of the calf musculature (HP:0001430)2.46963162
32Generalized tonic-clonic seizures (HP:0002069)2.44611232
33Progressive cerebellar ataxia (HP:0002073)2.44129303
34Impaired social interactions (HP:0000735)2.42758352
35Abnormal social behavior (HP:0012433)2.42758352
36Pancreatic cysts (HP:0001737)2.40040618
37Tented upper lip vermilion (HP:0010804)2.38348558
38Aplasia/Hypoplasia of the tongue (HP:0010295)2.33977678
39Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.30682877
40Abnormal lung lobation (HP:0002101)2.29279323
41Calf muscle hypertrophy (HP:0008981)2.28082352
42Postaxial foot polydactyly (HP:0001830)2.26763740
43Mutism (HP:0002300)2.21410991
44Aplasia/Hypoplasia of the tibia (HP:0005772)2.21341683
45Short tibia (HP:0005736)2.18616821
46Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.16615583
47Polyphagia (HP:0002591)2.14484793
48Bifid scrotum (HP:0000048)2.10251480
49Broad-based gait (HP:0002136)2.09340327
50Optic nerve hypoplasia (HP:0000609)2.07996236
51Eosinophilia (HP:0001880)2.07069832
52Pachygyria (HP:0001302)2.06950187
53Proximal amyotrophy (HP:0007126)2.06234587
54Muscle hypertrophy of the lower extremities (HP:0008968)2.02850422
55Morphological abnormality of the middle ear (HP:0008609)2.02596455
56Abnormality of macular pigmentation (HP:0008002)2.01494408
57Premature ovarian failure (HP:0008209)2.00922455
58Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.97334781
59Decreased activity of mitochondrial respiratory chain (HP:0008972)1.97334781
60Renal hypoplasia (HP:0000089)1.96936350
61Nephrogenic diabetes insipidus (HP:0009806)1.96404177
62Esotropia (HP:0000565)1.96163242
63Fibular aplasia (HP:0002990)1.95119986
64Gait imbalance (HP:0002141)1.94599276
65Hyperglycinemia (HP:0002154)1.93910643
66Cortical dysplasia (HP:0002539)1.93050538
67Molar tooth sign on MRI (HP:0002419)1.92048611
68Abnormality of midbrain morphology (HP:0002418)1.92048611
69Partial agenesis of the corpus callosum (HP:0001338)1.91996685
70Intellectual disability, progressive (HP:0006887)1.90090494
71Diaphragmatic weakness (HP:0009113)1.89339658
72Genital tract atresia (HP:0001827)1.88471827
73Steppage gait (HP:0003376)1.87947100
74Abnormal respiratory motile cilium physiology (HP:0012261)1.87576524
75Abnormal ciliary motility (HP:0012262)1.87403272
76Abnormal eating behavior (HP:0100738)1.87306606
77Abnormality of lateral ventricle (HP:0030047)1.86807059
78Abnormality of the frontal sinuses (HP:0002687)1.86527836
79Abnormality of the 4th metacarpal (HP:0010012)1.85977924
80Spinal rigidity (HP:0003306)1.85855459
81Postural instability (HP:0002172)1.85743432
82Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.85451125
83Dysdiadochokinesis (HP:0002075)1.84797039
84Medial flaring of the eyebrow (HP:0010747)1.83612724
85Facial hemangioma (HP:0000329)1.83251143
86Abnormality of the incisor (HP:0000676)1.81430237
87Congenital primary aphakia (HP:0007707)1.80944058
88Lissencephaly (HP:0001339)1.80397633
89Cupped ear (HP:0000378)1.78901678
90Muscular dystrophy (HP:0003560)1.78892814
91Protruding tongue (HP:0010808)1.76684318
92Pancreatic islet-cell hyperplasia (HP:0004510)1.76391324
93Myoglobinuria (HP:0002913)1.75390497
94Recurrent corneal erosions (HP:0000495)1.74616489
95Drooling (HP:0002307)1.74222948
96Exercise-induced myalgia (HP:0003738)1.74158997
97Myokymia (HP:0002411)1.74021132
98Delayed CNS myelination (HP:0002188)1.72995551
99Anencephaly (HP:0002323)1.72053573
100Focal seizures (HP:0007359)1.72052025

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK16.32175771
2OBSCN3.35479727
3MARK33.01970486
4MAP2K72.96332170
5LATS12.87513359
6FRK2.62293066
7CDK32.51296638
8CSNK1A1L2.39106681
9NEK22.35701490
10MARK12.28310282
11PBK2.23459439
12STK38L2.14241683
13CSNK1G32.13440568
14BMPR1B2.13096951
15DYRK32.10301098
16DYRK21.99100186
17MAPK131.97287377
18RPS6KA41.96433183
19CSNK1G21.90091956
20MAP3K41.85456195
21WNK31.83782862
22NTRK21.78897320
23CSNK1G11.78891538
24CLK11.72622844
25MAP4K21.56394747
26MYLK1.55154931
27SGK2231.27804501
28SGK4941.27804501
29SRPK11.25850527
30BCR1.24950098
31CASK1.23415049
32MAPK151.16965162
33EPHB21.14166363
34MINK11.13063320
35TGFBR11.10716409
36SGK21.03706487
37PLK41.01018643
38LATS20.94551318
39PKN10.92122186
40TLK10.90690367
41PRKG20.85463326
42WEE10.84786343
43CDK140.84222289
44TNIK0.82008672
45TRIM280.80492251
46CDK80.80392238
47PHKG10.77877388
48PHKG20.77877388
49INSRR0.77323252
50CDK50.74972267
51TIE10.74139424
52RPS6KA50.72283228
53RPS6KB10.69430898
54MOS0.67959682
55EPHA40.66100253
56CDK190.63813507
57GRK10.63775937
58CAMK2B0.63607257
59FGFR20.62753551
60NTRK30.62496380
61BCKDK0.62383527
62PLK20.61554821
63CCNB10.60849809
64ARAF0.59166858
65ROCK10.59092344
66STK160.58721187
67ERBB30.58020019
68CAMK2G0.57100408
69CAMK2A0.56800802
70CAMK40.56502954
71CSNK1A10.54776900
72PRKCE0.54538384
73BRD40.54225196
74NLK0.54199635
75CSNK1D0.51984906
76MAP3K50.50427640
77CAMK10.49934666
78CAMK2D0.49659102
79ADRBK20.48285604
80MAPKAPK50.47176241
81ROCK20.44320372
82STK390.43923820
83EGFR0.42494066
84CDK180.41128732
85GRK50.40090788
86PIK3CA0.39887837
87AURKB0.39694347
88CDK150.39398367
89PRKG10.36867541
90CDK11A0.36492783
91PRKCQ0.36305647
92STK380.34950196
93NEK10.34194291
94PRKACB0.33038613
95OXSR10.32563789
96PRKACA0.31377610
97PAK60.30932351
98PRKCG0.29231296
99MUSK0.28935246
100PLK10.28131353

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.44986599
2Nicotine addiction_Homo sapiens_hsa050333.24064379
3Olfactory transduction_Homo sapiens_hsa047402.92955959
4Butanoate metabolism_Homo sapiens_hsa006502.84542321
5GABAergic synapse_Homo sapiens_hsa047272.47566268
6Circadian rhythm_Homo sapiens_hsa047102.20171122
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.18813554
8Basal transcription factors_Homo sapiens_hsa030221.98111930
9Circadian entrainment_Homo sapiens_hsa047131.95158449
10Chemical carcinogenesis_Homo sapiens_hsa052041.87944576
11Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.86000241
12Hedgehog signaling pathway_Homo sapiens_hsa043401.73714925
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.73317500
14Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.70735698
15Nitrogen metabolism_Homo sapiens_hsa009101.67419044
16Regulation of autophagy_Homo sapiens_hsa041401.63472071
17Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.57273006
18Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.49785902
19Propanoate metabolism_Homo sapiens_hsa006401.47007067
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.46716368
21Morphine addiction_Homo sapiens_hsa050321.42888572
22Steroid hormone biosynthesis_Homo sapiens_hsa001401.39697903
23Cocaine addiction_Homo sapiens_hsa050301.39030488
24Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.36374328
25Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.35291269
26Taste transduction_Homo sapiens_hsa047421.29192476
27Fanconi anemia pathway_Homo sapiens_hsa034601.28917495
28beta-Alanine metabolism_Homo sapiens_hsa004101.28908128
29Amphetamine addiction_Homo sapiens_hsa050311.28660446
30Oocyte meiosis_Homo sapiens_hsa041141.25132595
31Dopaminergic synapse_Homo sapiens_hsa047281.23154943
32Aldosterone synthesis and secretion_Homo sapiens_hsa049251.18318141
33Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.18306873
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.16210210
35Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.13923398
36Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.13806084
37Arginine biosynthesis_Homo sapiens_hsa002201.09702801
38Gap junction_Homo sapiens_hsa045401.09232776
39Dilated cardiomyopathy_Homo sapiens_hsa054141.08031134
40Renin secretion_Homo sapiens_hsa049241.07615026
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.07608861
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.06978403
43Steroid biosynthesis_Homo sapiens_hsa001001.05367106
44Salivary secretion_Homo sapiens_hsa049701.04441964
452-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.04218791
46cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02911878
47Glutamatergic synapse_Homo sapiens_hsa047241.02268350
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.01773400
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.00931557
50Phototransduction_Homo sapiens_hsa047440.98369950
51Axon guidance_Homo sapiens_hsa043600.98164578
52Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97928506
53Basal cell carcinoma_Homo sapiens_hsa052170.97052339
54Oxytocin signaling pathway_Homo sapiens_hsa049210.95223277
55Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.92659806
56Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.92487350
57Alcoholism_Homo sapiens_hsa050340.92403169
58RNA degradation_Homo sapiens_hsa030180.91129670
59Phenylalanine metabolism_Homo sapiens_hsa003600.91051722
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88703936
61Insulin secretion_Homo sapiens_hsa049110.84523393
62Gastric acid secretion_Homo sapiens_hsa049710.83030560
63Calcium signaling pathway_Homo sapiens_hsa040200.82306926
64AMPK signaling pathway_Homo sapiens_hsa041520.81091987
65Retinol metabolism_Homo sapiens_hsa008300.80971305
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.78501852
67Tyrosine metabolism_Homo sapiens_hsa003500.75623576
68Collecting duct acid secretion_Homo sapiens_hsa049660.74257675
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.74202857
70Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.73855186
71cAMP signaling pathway_Homo sapiens_hsa040240.71466289
72Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.70344891
73Purine metabolism_Homo sapiens_hsa002300.69100282
74Parkinsons disease_Homo sapiens_hsa050120.67779171
75Peroxisome_Homo sapiens_hsa041460.66861265
76Glutathione metabolism_Homo sapiens_hsa004800.65190061
77Tryptophan metabolism_Homo sapiens_hsa003800.64502892
78Synaptic vesicle cycle_Homo sapiens_hsa047210.62273983
79TGF-beta signaling pathway_Homo sapiens_hsa043500.62060752
80Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.61582080
81Cholinergic synapse_Homo sapiens_hsa047250.61083901
82Wnt signaling pathway_Homo sapiens_hsa043100.60683837
83Arginine and proline metabolism_Homo sapiens_hsa003300.58969996
84Hippo signaling pathway_Homo sapiens_hsa043900.56842766
85PPAR signaling pathway_Homo sapiens_hsa033200.56700278
86Maturity onset diabetes of the young_Homo sapiens_hsa049500.56402886
87Cardiac muscle contraction_Homo sapiens_hsa042600.54903101
88Tight junction_Homo sapiens_hsa045300.52998602
89Glucagon signaling pathway_Homo sapiens_hsa049220.52922853
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50143059
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.49591503
92Non-homologous end-joining_Homo sapiens_hsa034500.46742292
93Metabolic pathways_Homo sapiens_hsa011000.45127846
94mRNA surveillance pathway_Homo sapiens_hsa030150.44489888
95ABC transporters_Homo sapiens_hsa020100.43119071
96Fatty acid degradation_Homo sapiens_hsa000710.42998179
97Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42826014
98RNA polymerase_Homo sapiens_hsa030200.39115887
99Melanogenesis_Homo sapiens_hsa049160.39072531
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38433131

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