HSD11B1L

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 is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)5.39005880
2synaptic vesicle maturation (GO:0016188)4.89211222
3postsynaptic membrane organization (GO:0001941)4.71707683
4nucleobase catabolic process (GO:0046113)4.56212256
5behavioral response to nicotine (GO:0035095)4.39946642
6dendritic spine morphogenesis (GO:0060997)4.22211218
7gamma-aminobutyric acid transport (GO:0015812)4.13334384
8protein localization to cilium (GO:0061512)4.09005968
9regulation of short-term neuronal synaptic plasticity (GO:0048172)4.07633734
10protein localization to synapse (GO:0035418)4.00080643
11membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.96800589
12synaptic vesicle exocytosis (GO:0016079)3.86520470
13glutamate secretion (GO:0014047)3.82304850
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.76864020
15neuron cell-cell adhesion (GO:0007158)3.73912757
16regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.73297626
17axonal fasciculation (GO:0007413)3.70817576
18transmission of nerve impulse (GO:0019226)3.68712566
19positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.57619998
20vocalization behavior (GO:0071625)3.57479018
21regulation of synapse structural plasticity (GO:0051823)3.52525379
22synaptic vesicle docking involved in exocytosis (GO:0016081)3.48800473
23regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.47811142
24presynaptic membrane assembly (GO:0097105)3.47650692
25negative regulation of synaptic transmission, GABAergic (GO:0032229)3.45836621
26synaptic transmission, glutamatergic (GO:0035249)3.45793365
27neurotransmitter secretion (GO:0007269)3.45092324
28presynaptic membrane organization (GO:0097090)3.45030895
29auditory behavior (GO:0031223)3.42581593
30neuronal action potential propagation (GO:0019227)3.41115305
31establishment of mitochondrion localization (GO:0051654)3.34051462
32regulation of synaptic vesicle exocytosis (GO:2000300)3.33143485
33neurotransmitter-gated ion channel clustering (GO:0072578)3.31503583
34neuron recognition (GO:0008038)3.29611417
35epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.22722879
36ionotropic glutamate receptor signaling pathway (GO:0035235)3.19820045
37exploration behavior (GO:0035640)3.17928953
38synapse assembly (GO:0007416)3.15480396
39epithelial cilium movement (GO:0003351)3.12904948
40intraciliary transport (GO:0042073)3.12118733
41neuronal ion channel clustering (GO:0045161)3.10193300
42regulation of synaptic vesicle transport (GO:1902803)3.05407856
43locomotory exploration behavior (GO:0035641)3.02283563
44neuromuscular synaptic transmission (GO:0007274)3.00841427
45neuron-neuron synaptic transmission (GO:0007270)2.99669148
46neurofilament cytoskeleton organization (GO:0060052)2.99655117
47axoneme assembly (GO:0035082)2.96899507
48cell migration in hindbrain (GO:0021535)2.93194687
49nonmotile primary cilium assembly (GO:0035058)2.93053197
50glutamate receptor signaling pathway (GO:0007215)2.92124586
51calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.89026523
52mechanosensory behavior (GO:0007638)2.85592033
53retinal ganglion cell axon guidance (GO:0031290)2.85404929
54protein polyglutamylation (GO:0018095)2.84208778
55startle response (GO:0001964)2.83402703
56regulation of neurotransmitter levels (GO:0001505)2.83387046
57regulation of glutamate receptor signaling pathway (GO:1900449)2.82332355
58behavioral defense response (GO:0002209)2.81622061
59behavioral fear response (GO:0001662)2.81622061
60positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.81252613
61negative regulation of cytosolic calcium ion concentration (GO:0051481)2.79139814
62regulation of cilium movement (GO:0003352)2.77319857
63G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.76665999
64response to auditory stimulus (GO:0010996)2.74300955
65substrate-independent telencephalic tangential migration (GO:0021826)2.73573791
66substrate-independent telencephalic tangential interneuron migration (GO:0021843)2.73573791
67neurotransmitter transport (GO:0006836)2.72524494
68regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.72156942
69negative regulation of appetite (GO:0032099)2.71643873
70negative regulation of response to food (GO:0032096)2.71643873
71behavioral response to ethanol (GO:0048149)2.71175169
72fear response (GO:0042596)2.68099530
73cilium movement (GO:0003341)2.67843487
74glycosphingolipid biosynthetic process (GO:0006688)2.67647546
75synaptic transmission, cholinergic (GO:0007271)2.65095873
76membrane depolarization during action potential (GO:0086010)2.64642571
77dendritic spine organization (GO:0097061)2.63926215
78regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.63545430
79regulation of neurotransmitter uptake (GO:0051580)2.62811249
80regulation of microtubule-based movement (GO:0060632)2.62438407
81positive regulation of membrane potential (GO:0045838)2.62019924
82regulation of postsynaptic membrane potential (GO:0060078)2.60710110
83regulation of neurotransmitter secretion (GO:0046928)2.60636884
84regulation of neurotransmitter transport (GO:0051588)2.60057320
85regulation of voltage-gated calcium channel activity (GO:1901385)2.59786934
86positive regulation of dendritic spine development (GO:0060999)2.59519586
87adult walking behavior (GO:0007628)2.59502243
88retinal cone cell development (GO:0046549)2.59360138
89central nervous system myelination (GO:0022010)2.57914055
90axon ensheathment in central nervous system (GO:0032291)2.57914055
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.57518783
92regulation of respiratory system process (GO:0044065)2.56645748
93synapse organization (GO:0050808)2.56240231
94regulation of excitatory postsynaptic membrane potential (GO:0060079)2.54090187
95negative regulation of telomere maintenance (GO:0032205)2.53373399
96positive regulation of neurotransmitter transport (GO:0051590)2.52187467
97regulation of neuronal synaptic plasticity (GO:0048168)2.51190321
98positive regulation of synapse assembly (GO:0051965)2.50505413
99positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.49874781
100synaptic transmission (GO:0007268)2.48637874

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.92136113
2NR4A2_19515692_ChIP-ChIP_MN9D_Mouse4.20340189
3CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.88822955
4REST_21632747_ChIP-Seq_MESCs_Mouse2.74346975
5GBX2_23144817_ChIP-Seq_PC3_Human2.70715752
6ZNF274_21170338_ChIP-Seq_K562_Hela2.47083052
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.41687757
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.31173201
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.31077821
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.31001338
11REST_18959480_ChIP-ChIP_MESCs_Mouse2.26673954
12IGF1R_20145208_ChIP-Seq_DFB_Human2.20875820
13CBX2_27304074_Chip-Seq_ESCs_Mouse2.17106996
14EZH2_27294783_Chip-Seq_ESCs_Mouse2.13496102
15TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08821554
16SUZ12_27294783_Chip-Seq_ESCs_Mouse2.02617807
17JARID2_20075857_ChIP-Seq_MESCs_Mouse1.98322031
18EED_16625203_ChIP-ChIP_MESCs_Mouse1.97632815
19ZFP57_27257070_Chip-Seq_ESCs_Mouse1.95435259
20SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.88601935
21SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.84902423
22VDR_22108803_ChIP-Seq_LS180_Human1.84201696
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.81817703
24CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80147442
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.79372433
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78879496
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.77489465
28RNF2_27304074_Chip-Seq_ESCs_Mouse1.76935728
29RNF2_27304074_Chip-Seq_NSC_Mouse1.73355959
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.73352662
31E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.72189768
32EZH2_18974828_ChIP-Seq_MESCs_Mouse1.70314280
33RNF2_18974828_ChIP-Seq_MESCs_Mouse1.70314280
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.62258395
35MTF2_20144788_ChIP-Seq_MESCs_Mouse1.60776203
36* DROSHA_22980978_ChIP-Seq_HELA_Human1.59578599
37SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.56248640
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55337206
39RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.43443905
40TAF15_26573619_Chip-Seq_HEK293_Human1.42123055
41P300_19829295_ChIP-Seq_ESCs_Human1.37645654
42RARB_27405468_Chip-Seq_BRAIN_Mouse1.36515361
43FUS_26573619_Chip-Seq_HEK293_Human1.35830008
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.33104229
45IKZF1_21737484_ChIP-ChIP_HCT116_Human1.32299174
46SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.30358264
47RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.28818115
48SMAD4_21799915_ChIP-Seq_A2780_Human1.26201354
49RING1B_27294783_Chip-Seq_ESCs_Mouse1.25004266
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.23616842
51POU3F2_20337985_ChIP-ChIP_501MEL_Human1.22854689
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22796637
53MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20684223
54RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20205658
55MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16070667
56SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.14232575
57AR_21572438_ChIP-Seq_LNCaP_Human1.13559588
58TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13501851
59POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13501851
60AR_25329375_ChIP-Seq_VCAP_Human1.11332576
61IRF1_19129219_ChIP-ChIP_H3396_Human1.11220743
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.10078062
63SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09255655
64RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07923647
65TP53_22573176_ChIP-Seq_HFKS_Human1.07309671
66STAT3_23295773_ChIP-Seq_U87_Human1.07141958
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.06894586
68TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05274567
69CBP_20019798_ChIP-Seq_JUKART_Human1.05261480
70IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05261480
71ETV2_25802403_ChIP-Seq_MESCs_Mouse1.05077937
72GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04798291
73FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.04107438
74KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03583728
75BCAT_22108803_ChIP-Seq_LS180_Human1.02647478
76TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.01784758
77SMAD3_21741376_ChIP-Seq_EPCs_Human1.01318944
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99939175
79MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99669039
80RUNX2_22187159_ChIP-Seq_PCA_Human0.99634820
81TCF4_23295773_ChIP-Seq_U87_Human0.99281849
82EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.97828285
83OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97665350
84FLI1_27457419_Chip-Seq_LIVER_Mouse0.97465492
85NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96360021
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95620698
87KLF5_20875108_ChIP-Seq_MESCs_Mouse0.95273886
88CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94721397
89CTCF_27219007_Chip-Seq_Bcells_Human0.94629848
90P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92919726
91PIAS1_25552417_ChIP-Seq_VCAP_Human0.92516197
92TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92493950
93SOX2_21211035_ChIP-Seq_LN229_Gbm0.91501398
94EWS_26573619_Chip-Seq_HEK293_Human0.90940151
95ER_23166858_ChIP-Seq_MCF-7_Human0.90709629
96CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.90343784
97AR_19668381_ChIP-Seq_PC3_Human0.88273947
98PCGF2_27294783_Chip-Seq_NPCs_Mouse0.88077444
99NCOR_22424771_ChIP-Seq_293T_Human0.88064472
100FLI1_21867929_ChIP-Seq_TH2_Mouse0.86276791

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern3.94408159
2MP0004859_abnormal_synaptic_plasticity3.81506212
3MP0005423_abnormal_somatic_nervous2.84403933
4MP0003787_abnormal_imprinting2.83465509
5MP0004270_analgesia2.79409934
6MP0003635_abnormal_synaptic_transmissio2.66557073
7MP0003122_maternal_imprinting2.66478631
8MP0006276_abnormal_autonomic_nervous2.53575198
9MP0009745_abnormal_behavioral_response2.52104337
10MP0001968_abnormal_touch/_nociception2.43186988
11MP0002272_abnormal_nervous_system2.35676061
12MP0002063_abnormal_learning/memory/cond2.31416544
13MP0000778_abnormal_nervous_system2.29756984
14MP0002064_seizures2.29393398
15MP0009046_muscle_twitch2.28676305
16MP0002734_abnormal_mechanical_nocicepti2.16579857
17MP0002572_abnormal_emotion/affect_behav2.11881587
18MP0001486_abnormal_startle_reflex2.07485257
19MP0002653_abnormal_ependyma_morphology2.03899608
20MP0008877_abnormal_DNA_methylation1.99974437
21MP0001984_abnormal_olfaction1.99427199
22MP0002736_abnormal_nociception_after1.95644175
23MP0006292_abnormal_olfactory_placode1.91877123
24MP0005646_abnormal_pituitary_gland1.91546203
25MP0003121_genomic_imprinting1.91176037
26MP0001529_abnormal_vocalization1.87794644
27MP0002102_abnormal_ear_morphology1.86345701
28MP0002733_abnormal_thermal_nociception1.79688053
29MP0001970_abnormal_pain_threshold1.78014580
30MP0005645_abnormal_hypothalamus_physiol1.77435390
31MP0002557_abnormal_social/conspecific_i1.75975286
32MP0005551_abnormal_eye_electrophysiolog1.75241003
33MP0008789_abnormal_olfactory_epithelium1.71836122
34MP0005394_taste/olfaction_phenotype1.71807052
35MP0005499_abnormal_olfactory_system1.71807052
36MP0004142_abnormal_muscle_tone1.71499054
37MP0002735_abnormal_chemical_nociception1.70637964
38MP0004885_abnormal_endolymph1.67316212
39MP0002822_catalepsy1.66439728
40MP0004133_heterotaxia1.58203890
41MP0002638_abnormal_pupillary_reflex1.50267898
42MP0002067_abnormal_sensory_capabilities1.48450540
43MP0001501_abnormal_sleep_pattern1.46382095
44MP0002184_abnormal_innervation1.46263066
45MP0000955_abnormal_spinal_cord1.41929742
46MP0002882_abnormal_neuron_morphology1.41621747
47MP0000631_abnormal_neuroendocrine_gland1.40669567
48MP0001905_abnormal_dopamine_level1.40580519
49MP0004811_abnormal_neuron_physiology1.40551557
50MP0001502_abnormal_circadian_rhythm1.32676797
51MP0004924_abnormal_behavior1.28551975
52MP0005386_behavior/neurological_phenoty1.28551975
53MP0001188_hyperpigmentation1.26412774
54MP0002909_abnormal_adrenal_gland1.25544489
55MP0001986_abnormal_taste_sensitivity1.25252614
56MP0003879_abnormal_hair_cell1.23742952
57MP0006072_abnormal_retinal_apoptosis1.22264334
58MP0002752_abnormal_somatic_nervous1.19111872
59MP0001485_abnormal_pinna_reflex1.17079911
60MP0004742_abnormal_vestibular_system1.13628089
61MP0002234_abnormal_pharynx_morphology1.11646569
62MP0003123_paternal_imprinting1.10688938
63MP0002066_abnormal_motor_capabilities/c1.10133907
64MP0000049_abnormal_middle_ear1.09457776
65MP0005253_abnormal_eye_physiology1.09452566
66MP0000026_abnormal_inner_ear1.09398366
67MP0002152_abnormal_brain_morphology1.08780910
68MP0001440_abnormal_grooming_behavior1.06792421
69MP0004145_abnormal_muscle_electrophysio1.04937309
70MP0001963_abnormal_hearing_physiology1.03204487
71MP0002229_neurodegeneration1.03124759
72MP0003633_abnormal_nervous_system1.02647200
73MP0009780_abnormal_chondrocyte_physiolo1.00413626
74MP0002837_dystrophic_cardiac_calcinosis0.99815062
75MP0003136_yellow_coat_color0.99638710
76MP0008569_lethality_at_weaning0.99590046
77MP0003329_amyloid_beta_deposits0.98479522
78MP0002938_white_spotting0.94853869
79MP0002876_abnormal_thyroid_physiology0.92923694
80MP0003011_delayed_dark_adaptation0.92506196
81MP0004147_increased_porphyrin_level0.92096347
82MP0008872_abnormal_physiological_respon0.90152569
83MP0005195_abnormal_posterior_eye0.87287604
84MP0002069_abnormal_eating/drinking_beha0.86707403
85MP0010386_abnormal_urinary_bladder0.84968693
86MP0003938_abnormal_ear_development0.84220546
87MP0002751_abnormal_autonomic_nervous0.80404806
88MP0003631_nervous_system_phenotype0.80066670
89MP0002163_abnormal_gland_morphology0.79935807
90MP0003861_abnormal_nervous_system0.78393560
91MP0003283_abnormal_digestive_organ0.77690381
92MP0008875_abnormal_xenobiotic_pharmacok0.76470898
93MP0003137_abnormal_impulse_conducting0.74971073
94MP0005084_abnormal_gallbladder_morpholo0.74456940
95MP0004043_abnormal_pH_regulation0.70480543
96MP0005379_endocrine/exocrine_gland_phen0.67382001
97MP0003890_abnormal_embryonic-extraembry0.66679732
98MP0002160_abnormal_reproductive_system0.66355538
99MP0000639_abnormal_adrenal_gland0.65820227
100MP0003646_muscle_fatigue0.65436288

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.66875723
2Focal motor seizures (HP:0011153)3.92079794
3Abnormality of midbrain morphology (HP:0002418)3.75102266
4Molar tooth sign on MRI (HP:0002419)3.75102266
5Focal seizures (HP:0007359)3.71612798
6Pancreatic fibrosis (HP:0100732)3.62545156
7True hermaphroditism (HP:0010459)3.47097679
8Pancreatic cysts (HP:0001737)3.45992402
9Polyphagia (HP:0002591)3.45464715
10Nephronophthisis (HP:0000090)3.43008422
11Gait imbalance (HP:0002141)3.31548782
12Medial flaring of the eyebrow (HP:0010747)3.31098958
13Limb dystonia (HP:0002451)3.10184133
14Type II lissencephaly (HP:0007260)3.09870013
15Epileptic encephalopathy (HP:0200134)3.06015396
16Progressive cerebellar ataxia (HP:0002073)2.92555582
17Lissencephaly (HP:0001339)2.86730556
18Congenital primary aphakia (HP:0007707)2.86312916
19Febrile seizures (HP:0002373)2.83572427
20Nephrogenic diabetes insipidus (HP:0009806)2.72792518
21Abnormal eating behavior (HP:0100738)2.71278143
22Abnormality of the renal medulla (HP:0100957)2.69161967
23Hemiparesis (HP:0001269)2.64677311
24Abnormality of the labia minora (HP:0012880)2.63294123
25Atonic seizures (HP:0010819)2.57852262
26Chronic hepatic failure (HP:0100626)2.52508437
27Drooling (HP:0002307)2.49273277
28Retinal dysplasia (HP:0007973)2.49158874
29Cystic liver disease (HP:0006706)2.48725280
30Action tremor (HP:0002345)2.48131449
31Abnormal respiratory epithelium morphology (HP:0012253)2.47317007
32Abnormal respiratory motile cilium morphology (HP:0005938)2.47317007
33Dynein arm defect of respiratory motile cilia (HP:0012255)2.43064737
34Absent/shortened dynein arms (HP:0200106)2.43064737
35Generalized tonic-clonic seizures (HP:0002069)2.37550670
36Congenital stationary night blindness (HP:0007642)2.35141344
37Acute necrotizing encephalopathy (HP:0006965)2.34872251
38Dialeptic seizures (HP:0011146)2.33521630
39Broad-based gait (HP:0002136)2.30947519
40Cerebellar dysplasia (HP:0007033)2.29842392
41Optic nerve hypoplasia (HP:0000609)2.29595315
42Hyperventilation (HP:0002883)2.27855532
43Epileptiform EEG discharges (HP:0011182)2.24777235
44Specific learning disability (HP:0001328)2.23543901
45Occipital encephalocele (HP:0002085)2.21995158
46Excessive salivation (HP:0003781)2.21828051
47Agitation (HP:0000713)2.20532487
48Abnormal ciliary motility (HP:0012262)2.20244759
49Sclerocornea (HP:0000647)2.19619388
50Hypsarrhythmia (HP:0002521)2.19083990
51Genital tract atresia (HP:0001827)2.18826309
52Vaginal atresia (HP:0000148)2.17716600
53EEG with generalized epileptiform discharges (HP:0011198)2.17413496
54Pachygyria (HP:0001302)2.16525032
55Abnormal mitochondria in muscle tissue (HP:0008316)2.13643990
56Absence seizures (HP:0002121)2.13297220
57Poor suck (HP:0002033)2.12495800
58Amblyopia (HP:0000646)2.12168366
59Failure to thrive in infancy (HP:0001531)2.11646016
60Spastic tetraplegia (HP:0002510)2.07232777
61Mitochondrial inheritance (HP:0001427)2.06872632
62Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04797593
63Abnormality of the corticospinal tract (HP:0002492)2.04162995
64Progressive macrocephaly (HP:0004481)2.03244301
65Narrow forehead (HP:0000341)2.02485714
66Postaxial hand polydactyly (HP:0001162)2.00535815
67Rib fusion (HP:0000902)2.00190191
68Absent speech (HP:0001344)1.98740662
69Abnormal respiratory motile cilium physiology (HP:0012261)1.97695679
70Tubular atrophy (HP:0000092)1.96787026
71Status epilepticus (HP:0002133)1.96389858
72Sleep apnea (HP:0010535)1.95926146
73Acute encephalopathy (HP:0006846)1.95708494
74Abnormal drinking behavior (HP:0030082)1.93404587
75Polydipsia (HP:0001959)1.93404587
76Anencephaly (HP:0002323)1.91896066
77Poor coordination (HP:0002370)1.91855140
78Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.90093142
79Aplasia/Hypoplasia of the tongue (HP:0010295)1.89604035
80Postaxial foot polydactyly (HP:0001830)1.88845485
81Oligodactyly (hands) (HP:0001180)1.87532826
82Increased CSF lactate (HP:0002490)1.86929779
83Inability to walk (HP:0002540)1.86900529
84Aplasia/Hypoplasia of the brainstem (HP:0007362)1.84173733
85Hypoplasia of the brainstem (HP:0002365)1.84173733
86CNS hypomyelination (HP:0003429)1.82078746
87Aplasia/Hypoplasia of the tibia (HP:0005772)1.81379357
88Cerebral hypomyelination (HP:0006808)1.81369978
89Abnormal rod and cone electroretinograms (HP:0008323)1.80156772
90Severe muscular hypotonia (HP:0006829)1.79115972
91Ankle clonus (HP:0011448)1.76644778
92Hepatocellular necrosis (HP:0001404)1.76058551
93Morphological abnormality of the pyramidal tract (HP:0002062)1.75916212
94Congenital hepatic fibrosis (HP:0002612)1.75894262
95Septo-optic dysplasia (HP:0100842)1.75023710
96Generalized myoclonic seizures (HP:0002123)1.73702566
97Visual hallucinations (HP:0002367)1.71939536
98Short tibia (HP:0005736)1.70830878
99Impaired vibration sensation in the lower limbs (HP:0002166)1.70276732
100Hyperglycinemia (HP:0002154)1.69333659

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK13.68501432
2EPHA43.61851425
3MAP4K22.86552510
4NTRK32.82017635
5CASK2.72977190
6MAP3K42.71347295
7PINK12.42554369
8MAP2K72.40727807
9PAK62.27788800
10MAPK132.27092555
11DYRK22.13646701
12DAPK22.12732255
13NTRK22.08680438
14FRK1.90689917
15PAK31.89628470
16WNK31.87221935
17ADRBK21.78182262
18CDK191.74791401
19MINK11.71066703
20PLK21.66493239
21PRKCG1.65224245
22BMPR1B1.63841688
23CSNK1G21.55719212
24BCKDK1.50643385
25SIK21.50366621
26UHMK11.46858994
27BCR1.45242673
28PHKG21.42170155
29PHKG11.42170155
30CSNK1G31.41029761
31GRK11.39897012
32PRKD31.38915261
33ZAK1.33896460
34NUAK11.32686206
35WNK41.30748949
36TRIM281.24803200
37CSNK1A1L1.23897698
38STK161.22102067
39EPHB21.21521627
40MAP2K41.14894206
41CSNK1G11.12071409
42OXSR11.08075313
43TNIK1.06601712
44CDK51.02456311
45LIMK11.01742136
46SGK4940.99978604
47SGK2230.99978604
48TYRO30.99972621
49NTRK10.99800092
50CAMK10.98529739
51CAMKK10.98305826
52CAMKK20.96927719
53CAMK2A0.94604745
54DYRK1A0.91435337
55GRK50.90750685
56MAP3K90.90546363
57PKN10.85327829
58MAPK150.85012242
59DYRK1B0.84067110
60TIE10.83323141
61STK110.82547122
62PRKCE0.82052572
63NME10.79049988
64INSRR0.78481665
65ADRBK10.71115850
66STK390.65937308
67DAPK10.64693412
68CAMK2B0.63641927
69PRKCZ0.61376962
70CDK140.60562690
71PRKCH0.59897658
72CSNK1A10.57199774
73MAP2K60.55411879
74CDK180.54917745
75PRKACA0.54512694
76CDK150.53556595
77CDK11A0.52963035
78PNCK0.52016817
79TLK10.51695405
80SGK20.50489866
81MARK20.47824870
82CAMK40.46923503
83ERBB30.45079727
84DYRK30.43626395
85MAP3K110.43162154
86CAMK2D0.43070088
87MUSK0.42204847
88CAMK2G0.42049732
89PRKCA0.39226978
90CSNK1E0.38839216
91PRKAA10.38517087
92PTK2B0.37562201
93SGK10.36366384
94PRKCI0.36281910
95ERBB20.35982896
96FGFR20.35395058
97PRKG10.34631424
98RPS6KA30.32954695
99CSNK1D0.32781288
100TNK20.29260879

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.09519123
2Synaptic vesicle cycle_Homo sapiens_hsa047212.85151135
3Oxidative phosphorylation_Homo sapiens_hsa001902.66407925
4Phototransduction_Homo sapiens_hsa047442.62696339
5GABAergic synapse_Homo sapiens_hsa047272.46644798
6Morphine addiction_Homo sapiens_hsa050322.36901771
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.28004653
8Insulin secretion_Homo sapiens_hsa049112.17659497
9Cardiac muscle contraction_Homo sapiens_hsa042602.16196614
10Circadian entrainment_Homo sapiens_hsa047132.15682813
11Parkinsons disease_Homo sapiens_hsa050122.14952656
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.12022998
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.11620008
14Glutamatergic synapse_Homo sapiens_hsa047242.06247851
15Dopaminergic synapse_Homo sapiens_hsa047281.87107677
16Cocaine addiction_Homo sapiens_hsa050301.85964388
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.84283234
18Amphetamine addiction_Homo sapiens_hsa050311.79543948
19Butanoate metabolism_Homo sapiens_hsa006501.74144662
20Collecting duct acid secretion_Homo sapiens_hsa049661.66433369
21Alzheimers disease_Homo sapiens_hsa050101.63957236
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.61570941
23Taste transduction_Homo sapiens_hsa047421.55839137
24Huntingtons disease_Homo sapiens_hsa050161.53371184
25Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.47652031
26Nitrogen metabolism_Homo sapiens_hsa009101.42947307
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.39792816
28Olfactory transduction_Homo sapiens_hsa047401.36213014
29Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.32111710
30Steroid biosynthesis_Homo sapiens_hsa001001.32084956
31Regulation of autophagy_Homo sapiens_hsa041401.28517538
32Cholinergic synapse_Homo sapiens_hsa047251.27821555
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26903031
34Axon guidance_Homo sapiens_hsa043601.26522647
35Protein export_Homo sapiens_hsa030601.19034970
36Gastric acid secretion_Homo sapiens_hsa049711.18805078
37Serotonergic synapse_Homo sapiens_hsa047261.17647331
38Salivary secretion_Homo sapiens_hsa049701.16819526
39Linoleic acid metabolism_Homo sapiens_hsa005911.14460600
40Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.08612832
41Aldosterone synthesis and secretion_Homo sapiens_hsa049251.07768355
42alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.05553005
43Oxytocin signaling pathway_Homo sapiens_hsa049211.03905559
44Calcium signaling pathway_Homo sapiens_hsa040201.02164688
45cAMP signaling pathway_Homo sapiens_hsa040240.99728208
46Ether lipid metabolism_Homo sapiens_hsa005650.93660862
47Peroxisome_Homo sapiens_hsa041460.92230593
48Long-term depression_Homo sapiens_hsa047300.91329832
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.86943824
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85107937
51Maturity onset diabetes of the young_Homo sapiens_hsa049500.82736791
52Hedgehog signaling pathway_Homo sapiens_hsa043400.75927722
53Vitamin B6 metabolism_Homo sapiens_hsa007500.75886046
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.73118095
55Long-term potentiation_Homo sapiens_hsa047200.72300362
56Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.71504548
57Tryptophan metabolism_Homo sapiens_hsa003800.69637909
58Caffeine metabolism_Homo sapiens_hsa002320.68465005
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65106555
60Basal transcription factors_Homo sapiens_hsa030220.65001333
61Sulfur relay system_Homo sapiens_hsa041220.62083660
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.61531279
63Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61157252
64Propanoate metabolism_Homo sapiens_hsa006400.59992095
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.59753405
66Vibrio cholerae infection_Homo sapiens_hsa051100.57591043
67Basal cell carcinoma_Homo sapiens_hsa052170.57182548
68Fanconi anemia pathway_Homo sapiens_hsa034600.55409144
69Renin secretion_Homo sapiens_hsa049240.55130480
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54869063
71Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.54852295
72Melanogenesis_Homo sapiens_hsa049160.53888604
73Circadian rhythm_Homo sapiens_hsa047100.51688795
74beta-Alanine metabolism_Homo sapiens_hsa004100.51593471
75Primary bile acid biosynthesis_Homo sapiens_hsa001200.51003856
76Hippo signaling pathway_Homo sapiens_hsa043900.50811694
77Arginine and proline metabolism_Homo sapiens_hsa003300.50041601
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.48041258
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47357028
80RNA polymerase_Homo sapiens_hsa030200.46703997
81Glycerolipid metabolism_Homo sapiens_hsa005610.46574726
82Metabolic pathways_Homo sapiens_hsa011000.46100051
83Folate biosynthesis_Homo sapiens_hsa007900.45778370
84Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.45596530
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44905860
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44712186
87Gap junction_Homo sapiens_hsa045400.43982136
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43589370
89Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.41340835
90Oocyte meiosis_Homo sapiens_hsa041140.40794247
91RNA degradation_Homo sapiens_hsa030180.40051567
92Ovarian steroidogenesis_Homo sapiens_hsa049130.40011571
93Ras signaling pathway_Homo sapiens_hsa040140.39573251
94Vascular smooth muscle contraction_Homo sapiens_hsa042700.36071939
95Dilated cardiomyopathy_Homo sapiens_hsa054140.34778152
96Fatty acid elongation_Homo sapiens_hsa000620.34774337
97Alcoholism_Homo sapiens_hsa050340.34731707
98Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33689480
99Fatty acid metabolism_Homo sapiens_hsa012120.33218338
100ABC transporters_Homo sapiens_hsa020100.32937613

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