RORB

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: The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1presynaptic membrane assembly (GO:0097105)6.97299000
2regulation of rhodopsin mediated signaling pathway (GO:0022400)6.25030106
3presynaptic membrane organization (GO:0097090)6.11652831
4rhodopsin mediated signaling pathway (GO:0016056)6.07236632
5postsynaptic membrane organization (GO:0001941)5.67280407
6protein localization to synapse (GO:0035418)5.32036352
7neuron cell-cell adhesion (GO:0007158)5.22065282
8* retinal cone cell development (GO:0046549)5.14954782
9neurotransmitter-gated ion channel clustering (GO:0072578)5.07520390
10photoreceptor cell maintenance (GO:0045494)5.03949286
11* photoreceptor cell development (GO:0042461)4.91486737
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.87178710
13axonal fasciculation (GO:0007413)4.84294209
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.83360798
15* eye photoreceptor cell development (GO:0042462)4.83063462
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.78250718
17nephron tubule morphogenesis (GO:0072078)4.75140584
18nephron epithelium morphogenesis (GO:0072088)4.75140584
19cell differentiation involved in metanephros development (GO:0072202)4.65935443
20* retinal rod cell development (GO:0046548)4.63983833
21detection of light stimulus involved in visual perception (GO:0050908)4.60547883
22detection of light stimulus involved in sensory perception (GO:0050962)4.60547883
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.51808861
24pyrimidine nucleobase catabolic process (GO:0006208)4.39483625
25vocalization behavior (GO:0071625)4.34872141
26response to histamine (GO:0034776)4.32449833
27regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.24484770
28positive regulation of dendritic spine morphogenesis (GO:0061003)4.24243653
29cerebellar granule cell differentiation (GO:0021707)4.22279304
30neuroblast proliferation (GO:0007405)4.15210381
31layer formation in cerebral cortex (GO:0021819)4.02838558
32dendritic spine morphogenesis (GO:0060997)4.01660616
33acidic amino acid transport (GO:0015800)4.00917123
34glomerulus development (GO:0032835)3.99642959
35glutamate secretion (GO:0014047)3.97984588
36negative regulation of cytosolic calcium ion concentration (GO:0051481)3.95240494
37L-glutamate transport (GO:0015813)3.94120149
38G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.93329169
39axon ensheathment in central nervous system (GO:0032291)3.92357372
40central nervous system myelination (GO:0022010)3.92357372
41renal tubule morphogenesis (GO:0061333)3.89496701
42retinal ganglion cell axon guidance (GO:0031290)3.89095760
43synaptic vesicle exocytosis (GO:0016079)3.88543559
44regulation of synaptic vesicle exocytosis (GO:2000300)3.88081257
45mechanosensory behavior (GO:0007638)3.84649499
46regulation of glutamate receptor signaling pathway (GO:1900449)3.82148253
47central nervous system projection neuron axonogenesis (GO:0021952)3.81245396
48eye photoreceptor cell differentiation (GO:0001754)3.78720039
49photoreceptor cell differentiation (GO:0046530)3.78720039
50regulation of short-term neuronal synaptic plasticity (GO:0048172)3.77784214
51nonmotile primary cilium assembly (GO:0035058)3.76449030
52positive regulation of synapse assembly (GO:0051965)3.74884861
53positive regulation of neurotransmitter secretion (GO:0001956)3.73789037
54negative regulation of synaptic transmission, GABAergic (GO:0032229)3.72474981
55nucleobase catabolic process (GO:0046113)3.67587769
56neuronal ion channel clustering (GO:0045161)3.63594878
57auditory behavior (GO:0031223)3.60186252
58neuronal action potential propagation (GO:0019227)3.55732830
59positive regulation of neurotransmitter transport (GO:0051590)3.55498962
60detection of visible light (GO:0009584)3.51460809
61phototransduction (GO:0007602)3.51365516
62detection of light stimulus (GO:0009583)3.50818006
63* visual perception (GO:0007601)3.46875291
64gamma-aminobutyric acid signaling pathway (GO:0007214)3.46557322
65regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.46483415
66L-amino acid import (GO:0043092)3.44092783
67* sensory perception of light stimulus (GO:0050953)3.44079894
68GMP metabolic process (GO:0046037)3.42008126
69retina layer formation (GO:0010842)3.41496381
70cranial nerve development (GO:0021545)3.40014302
71positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.39313790
72phototransduction, visible light (GO:0007603)3.38523020
73negative regulation of dendrite development (GO:2000171)3.37525266
74neuron-neuron synaptic transmission (GO:0007270)3.35581560
75regulation of voltage-gated calcium channel activity (GO:1901385)3.34855739
76positive regulation of membrane potential (GO:0045838)3.33847955
77response to auditory stimulus (GO:0010996)3.31808251
78glutamate receptor signaling pathway (GO:0007215)3.31758686
79synaptic transmission, glutamatergic (GO:0035249)3.29072832
80olfactory bulb development (GO:0021772)3.25608056
81adult walking behavior (GO:0007628)3.24913626
82regulation of neurotransmitter secretion (GO:0046928)3.23756212
83positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.23347112
84short-term memory (GO:0007614)3.22925837
85regulation of synaptic vesicle transport (GO:1902803)3.21239431
86regulation of postsynaptic membrane potential (GO:0060078)3.21021516
87protein-chromophore linkage (GO:0018298)3.20728992
88startle response (GO:0001964)3.18810140
89long-term synaptic potentiation (GO:0060291)3.18618933
90regulation of excitatory postsynaptic membrane potential (GO:0060079)3.18572438
91positive regulation of dendritic spine development (GO:0060999)3.16797961
92regulation of synaptic transmission, glutamatergic (GO:0051966)3.16562854
93central nervous system neuron axonogenesis (GO:0021955)3.15255608
94atrial cardiac muscle cell action potential (GO:0086014)3.14656147
95gamma-aminobutyric acid transport (GO:0015812)3.13957205
96cell morphogenesis involved in neuron differentiation (GO:0048667)3.12057591
97positive regulation of synapse maturation (GO:0090129)3.09375837
98regulation of neuronal synaptic plasticity (GO:0048168)3.08927468
99locomotory exploration behavior (GO:0035641)3.04956652
100membrane depolarization during action potential (GO:0086010)3.04796978
101proline transport (GO:0015824)3.04789372
102substrate-independent telencephalic tangential migration (GO:0021826)3.03042728
103substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.03042728
104membrane assembly (GO:0071709)3.01496944
105synapse assembly (GO:0007416)3.00935584
106neurotransmitter uptake (GO:0001504)3.00398154
107regulation of respiratory system process (GO:0044065)2.99630690
108membrane hyperpolarization (GO:0060081)2.99191365
109regulation of synapse assembly (GO:0051963)2.98698026
110cerebral cortex radially oriented cell migration (GO:0021799)2.96563227
111negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.95526250
112chemosensory behavior (GO:0007635)2.95149299
113synaptic vesicle maturation (GO:0016188)2.93198516
114protein heterotetramerization (GO:0051290)2.92914149
115cellular potassium ion homeostasis (GO:0030007)2.92649080
116neuromuscular synaptic transmission (GO:0007274)2.92338403
117ionotropic glutamate receptor signaling pathway (GO:0035235)2.92012113
118serotonin metabolic process (GO:0042428)2.90186663
119synaptic vesicle endocytosis (GO:0048488)2.89965652
120positive regulation of gastrulation (GO:2000543)2.88974531
121behavioral response to cocaine (GO:0048148)2.88024994
122regulation of neurotransmitter transport (GO:0051588)2.87040216
123neurotransmitter secretion (GO:0007269)2.86469087
124positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.85521500
125amino acid import (GO:0043090)2.85180677
126positive regulation of guanylate cyclase activity (GO:0031284)2.84079497
127regulation of synapse maturation (GO:0090128)2.83638043
128neurotransmitter transport (GO:0006836)2.79935060
129exploration behavior (GO:0035640)2.79000343
130positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.78954130
131regulation of long-term neuronal synaptic plasticity (GO:0048169)2.78762397
132neuron recognition (GO:0008038)2.77669179
133axonogenesis (GO:0007409)2.76913208
134C4-dicarboxylate transport (GO:0015740)2.76275115
135long-term memory (GO:0007616)2.75756452
136negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.75406745
137calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.75357138
138* retina development in camera-type eye (GO:0060041)2.74359426
139positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.73685761
140regulation of dendritic spine morphogenesis (GO:0061001)2.73274263
141regulation of vesicle fusion (GO:0031338)2.71189532
142detection of external stimulus (GO:0009581)2.70113597
143transmission of nerve impulse (GO:0019226)2.69478042
144membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.67335305
145righting reflex (GO:0060013)2.66888131

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.28592171
2EZH2_22144423_ChIP-Seq_EOC_Human4.14118795
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.05886187
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.88192427
5* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.82440631
6* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.74081059
7EZH2_27304074_Chip-Seq_ESCs_Mouse2.65207931
8EED_16625203_ChIP-ChIP_MESCs_Mouse2.64583361
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63885928
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.57787567
11TAF15_26573619_Chip-Seq_HEK293_Human2.40863473
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.36547884
13EZH2_18974828_ChIP-Seq_MESCs_Mouse2.36547884
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.34329928
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.31942166
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.31507557
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.30302087
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.28437446
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25652320
20AR_21572438_ChIP-Seq_LNCaP_Human2.24305341
21CBX2_27304074_Chip-Seq_ESCs_Mouse2.21627705
22* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.07613728
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.04750428
24* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.01703183
25* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.00409041
26BMI1_23680149_ChIP-Seq_NPCS_Mouse2.00404994
27EZH2_27294783_Chip-Seq_ESCs_Mouse1.99994176
28* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.99848730
29RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.97470252
30* P300_19829295_ChIP-Seq_ESCs_Human1.97220182
31SUZ12_27294783_Chip-Seq_ESCs_Mouse1.96472338
32FUS_26573619_Chip-Seq_HEK293_Human1.92020371
33PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.88263700
34VDR_22108803_ChIP-Seq_LS180_Human1.87201022
35REST_21632747_ChIP-Seq_MESCs_Mouse1.86206421
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.81181685
37* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.77123528
38SMAD4_21799915_ChIP-Seq_A2780_Human1.75652886
39PIAS1_25552417_ChIP-Seq_VCAP_Human1.75621076
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.75598787
41RNF2_27304074_Chip-Seq_NSC_Mouse1.68837446
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62654530
43* SMAD3_21741376_ChIP-Seq_EPCs_Human1.61731001
44SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56912970
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.53238714
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.50091718
47RBPJ_22232070_ChIP-Seq_NCS_Mouse1.49433933
48SALL1_21062744_ChIP-ChIP_HESCs_Human1.49254725
49ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49024792
50CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.47423707
51TOP2B_26459242_ChIP-Seq_MCF-7_Human1.47164970
52OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45777975
53NANOG_18555785_Chip-Seq_ESCs_Mouse1.44121298
54TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.42412604
55ER_23166858_ChIP-Seq_MCF-7_Human1.41927668
56IGF1R_20145208_ChIP-Seq_DFB_Human1.40773671
57DROSHA_22980978_ChIP-Seq_HELA_Human1.39363950
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38826653
59PCGF2_27294783_Chip-Seq_ESCs_Mouse1.37363000
60REST_18959480_ChIP-ChIP_MESCs_Mouse1.36255513
61AR_25329375_ChIP-Seq_VCAP_Human1.34495669
62EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.33823546
63CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33329683
64SUZ12_27294783_Chip-Seq_NPCs_Mouse1.32933815
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.32601834
66* STAT3_23295773_ChIP-Seq_U87_Human1.31276239
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30489821
68E2F1_18555785_Chip-Seq_ESCs_Mouse1.29786800
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29166518
70CBP_20019798_ChIP-Seq_JUKART_Human1.28445807
71IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.28445807
72TBL1_22424771_ChIP-Seq_293T_Human1.27716344
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.26371494
74* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.24900869
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23790752
76HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.23245245
77RARB_27405468_Chip-Seq_BRAIN_Mouse1.22439188
78P53_22387025_ChIP-Seq_ESCs_Mouse1.20964128
79NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20380036
80* POU5F1_16153702_ChIP-ChIP_HESCs_Human1.20095782
81* TCF4_23295773_ChIP-Seq_U87_Human1.19077822
82SUZ12_18555785_Chip-Seq_ESCs_Mouse1.18887174
83NR3C1_23031785_ChIP-Seq_PC12_Mouse1.18791716
84EWS_26573619_Chip-Seq_HEK293_Human1.18550327
85CMYC_18555785_Chip-Seq_ESCs_Mouse1.17926644
86RING1B_27294783_Chip-Seq_NPCs_Mouse1.17689392
87NFE2_27457419_Chip-Seq_LIVER_Mouse1.17278800
88TAL1_26923725_Chip-Seq_HPCs_Mouse1.16462826
89IKZF1_21737484_ChIP-ChIP_HCT116_Human1.14400427
90TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14381356
91P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13653728
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12589825
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12589825
94RING1B_27294783_Chip-Seq_ESCs_Mouse1.12514439
95EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.12351903
96P300_18555785_Chip-Seq_ESCs_Mouse1.11470297
97TCF4_18268006_ChIP-ChIP_LS174T_Human1.11453358
98RUNX2_22187159_ChIP-Seq_PCA_Human1.11211545
99NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11189024
100BCAT_22108803_ChIP-Seq_LS180_Human1.10880500
101TP53_18474530_ChIP-ChIP_U2OS_Human1.10389880
102ARNT_22903824_ChIP-Seq_MCF-7_Human1.09057966
103STAT3_18555785_Chip-Seq_ESCs_Mouse1.08842293
104SOX2_18555785_Chip-Seq_ESCs_Mouse1.08670571
105AHR_22903824_ChIP-Seq_MCF-7_Human1.08517411
106* KDM2B_26808549_Chip-Seq_REH_Human1.07619101
107* SOX2_21211035_ChIP-Seq_LN229_Gbm1.07468618
108PRDM14_20953172_ChIP-Seq_ESCs_Human1.07265527
109* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.07186148
110TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07009149
111ZNF274_21170338_ChIP-Seq_K562_Hela1.06539327
112NFYB_21822215_ChIP-Seq_K562_Human1.06177215
113TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.06059532
114SOX9_26525672_Chip-Seq_HEART_Mouse1.04876850
115EZH2_27294783_Chip-Seq_NPCs_Mouse1.03809311
116AR_19668381_ChIP-Seq_PC3_Human1.02751755

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005551_abnormal_eye_electrophysiolog4.92765663
2MP0001346_abnormal_lacrimal_gland4.50973775
3MP0003880_abnormal_central_pattern4.28399430
4MP0003011_delayed_dark_adaptation3.52656324
5MP0006072_abnormal_retinal_apoptosis3.44794576
6MP0002822_catalepsy3.38537871
7* MP0005253_abnormal_eye_physiology3.30955212
8MP0001502_abnormal_circadian_rhythm2.57853456
9MP0003635_abnormal_synaptic_transmissio2.48853808
10MP0004859_abnormal_synaptic_plasticity2.46853371
11MP0001486_abnormal_startle_reflex2.42217399
12MP0005423_abnormal_somatic_nervous2.39666085
13MP0001188_hyperpigmentation2.37569140
14MP0006292_abnormal_olfactory_placode2.34959789
15MP0002638_abnormal_pupillary_reflex2.33016899
16MP0009046_muscle_twitch2.30381794
17MP0009745_abnormal_behavioral_response2.29956458
18MP0001968_abnormal_touch/_nociception2.28036431
19MP0005646_abnormal_pituitary_gland2.23256061
20MP0002064_seizures2.19419865
21MP0004270_analgesia2.16557511
22* MP0005195_abnormal_posterior_eye2.10027534
23MP0005187_abnormal_penis_morphology2.09756388
24MP0003136_yellow_coat_color2.06933600
25* MP0002572_abnormal_emotion/affect_behav2.04520075
26MP0001984_abnormal_olfaction2.03252097
27* MP0002063_abnormal_learning/memory/cond2.00719251
28MP0002272_abnormal_nervous_system1.96232257
29MP0009780_abnormal_chondrocyte_physiolo1.93722058
30* MP0002067_abnormal_sensory_capabilities1.85964205
31MP0002734_abnormal_mechanical_nocicepti1.80133231
32MP0000778_abnormal_nervous_system1.73997030
33MP0004885_abnormal_endolymph1.72883556
34MP0002229_neurodegeneration1.64686334
35MP0002090_abnormal_vision1.63258728
36MP0000631_abnormal_neuroendocrine_gland1.62942152
37MP0002752_abnormal_somatic_nervous1.62901594
38MP0005409_darkened_coat_color1.60620769
39* MP0002557_abnormal_social/conspecific_i1.59107301
40MP0002697_abnormal_eye_size1.57476197
41* MP0005391_vision/eye_phenotype1.57198316
42MP0002882_abnormal_neuron_morphology1.54899242
43MP0002736_abnormal_nociception_after1.51852601
44MP0001440_abnormal_grooming_behavior1.51110905
45MP0003950_abnormal_plasma_membrane1.50701260
46MP0004742_abnormal_vestibular_system1.49167834
47MP0001324_abnormal_eye_pigmentation1.47007201
48MP0002160_abnormal_reproductive_system1.42446211
49MP0002653_abnormal_ependyma_morphology1.42256330
50MP0005197_abnormal_uvea_morphology1.41697820
51MP0000566_synostosis1.38839013
52MP0001963_abnormal_hearing_physiology1.36618740
53MP0006276_abnormal_autonomic_nervous1.33250794
54MP0001501_abnormal_sleep_pattern1.32823551
55MP0003879_abnormal_hair_cell1.31312291
56MP0008569_lethality_at_weaning1.30588761
57MP0003787_abnormal_imprinting1.29218357
58MP0003890_abnormal_embryonic-extraembry1.27923772
59MP0008789_abnormal_olfactory_epithelium1.27680305
60MP0000026_abnormal_inner_ear1.26822652
61MP0002102_abnormal_ear_morphology1.25872729
62MP0002876_abnormal_thyroid_physiology1.25364796
63MP0002735_abnormal_chemical_nociception1.25316554
64MP0001905_abnormal_dopamine_level1.24932609
65MP0005499_abnormal_olfactory_system1.24841880
66MP0005394_taste/olfaction_phenotype1.24841880
67MP0005386_behavior/neurological_phenoty1.21907013
68MP0004924_abnormal_behavior1.21907013
69MP0002184_abnormal_innervation1.21819668
70MP0001986_abnormal_taste_sensitivity1.21025098
71MP0001919_abnormal_reproductive_system1.20748468
72MP0005645_abnormal_hypothalamus_physiol1.20478796
73MP0004142_abnormal_muscle_tone1.19111144
74MP0000049_abnormal_middle_ear1.14870448
75MP0001485_abnormal_pinna_reflex1.14407139
76MP0005248_abnormal_Harderian_gland1.14340332
77MP0005171_absent_coat_pigmentation1.13267610
78MP0001299_abnormal_eye_distance/1.11845384
79MP0001970_abnormal_pain_threshold1.10748758
80MP0003633_abnormal_nervous_system1.06075411
81MP0002909_abnormal_adrenal_gland1.02090058
82MP0003938_abnormal_ear_development1.01666647
83MP0000569_abnormal_digit_pigmentation1.01587496
84MP0002234_abnormal_pharynx_morphology0.99116173
85MP0001293_anophthalmia0.98027152
86MP0005647_abnormal_sex_gland0.97093151
87MP0002733_abnormal_thermal_nociception0.96100375
88* MP0002066_abnormal_motor_capabilities/c0.95042490
89MP0002152_abnormal_brain_morphology0.94979317
90MP0001529_abnormal_vocalization0.89957049
91MP0004215_abnormal_myocardial_fiber0.89839649
92MP0003634_abnormal_glial_cell0.89625769
93MP0005389_reproductive_system_phenotype0.88888078
94MP0003329_amyloid_beta_deposits0.86572531
95MP0008877_abnormal_DNA_methylation0.86008596
96MP0003122_maternal_imprinting0.85889344
97MP0002249_abnormal_larynx_morphology0.85506952
98MP0003878_abnormal_ear_physiology0.84613218
99MP0005377_hearing/vestibular/ear_phenot0.84613218
100MP0000955_abnormal_spinal_cord0.83679202
101MP0003861_abnormal_nervous_system0.82612540
102MP0003121_genomic_imprinting0.82267150
103MP0010030_abnormal_orbit_morphology0.81046893
104MP0003631_nervous_system_phenotype0.80604207
105MP0000647_abnormal_sebaceous_gland0.77347884
106MP0003632_abnormal_nervous_system0.76680556
107MP0002127_abnormal_cardiovascular_syste0.74361400
108MP0004858_abnormal_nervous_system0.73796341
109MP0002751_abnormal_autonomic_nervous0.73675419
110MP0002009_preneoplasia0.72121419
111MP0005595_abnormal_vascular_smooth0.71774677
112MP0003690_abnormal_glial_cell0.71396741
113MP0010386_abnormal_urinary_bladder0.71206002
114MP0004811_abnormal_neuron_physiology0.70366779
115MP0004133_heterotaxia0.69784440
116MP0001664_abnormal_digestion0.66172003
117MP0002069_abnormal_eating/drinking_beha0.64978598
118MP0002233_abnormal_nose_morphology0.64502994
119MP0004085_abnormal_heartbeat0.63672834
120MP0009250_abnormal_appendicular_skeleto0.63163736
121MP0008260_abnormal_autophagy0.60111659
122MP0003137_abnormal_impulse_conducting0.60071152
123MP0004145_abnormal_muscle_electrophysio0.59381590
124MP0001286_abnormal_eye_development0.58495961
125MP0002277_abnormal_respiratory_mucosa0.57443022

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)8.17293880
2Bony spicule pigmentary retinopathy (HP:0007737)5.66978850
3Abnormal rod and cone electroretinograms (HP:0008323)5.47868956
4Absent rod-and cone-mediated responses on ERG (HP:0007688)5.27413800
5Epileptic encephalopathy (HP:0200134)5.18074419
6Focal motor seizures (HP:0011153)5.14937844
7Dyschromatopsia (HP:0007641)4.68886688
8Attenuation of retinal blood vessels (HP:0007843)4.54273635
9Hyperventilation (HP:0002883)4.54182994
10Abnormality of macular pigmentation (HP:0008002)4.52818243
11Pendular nystagmus (HP:0012043)4.44612200
12Subcapsular cataract (HP:0000523)4.44570840
13Chorioretinal atrophy (HP:0000533)4.44406195
14Decreased central vision (HP:0007663)4.43233908
15Central scotoma (HP:0000603)4.25448835
16Pigmentary retinal degeneration (HP:0001146)4.03788728
17Febrile seizures (HP:0002373)3.87965589
18Scotoma (HP:0000575)3.84406024
19Abolished electroretinogram (ERG) (HP:0000550)3.81278609
20Myokymia (HP:0002411)3.71592980
21Gait imbalance (HP:0002141)3.53916485
22Severe visual impairment (HP:0001141)3.40447672
23Congenital primary aphakia (HP:0007707)3.37402275
24Medial flaring of the eyebrow (HP:0010747)3.33643551
25Increased corneal curvature (HP:0100692)3.28275133
26Keratoconus (HP:0000563)3.28275133
27Photophobia (HP:0000613)3.20693642
28Nephrogenic diabetes insipidus (HP:0009806)3.16679480
29Abnormality of the axillary hair (HP:0100134)3.14656055
30Abnormality of secondary sexual hair (HP:0009888)3.14656055
31Broad-based gait (HP:0002136)3.04823978
32Oligodactyly (hands) (HP:0001180)2.99974813
33Retinitis pigmentosa (HP:0000510)2.94746654
34Type II diabetes mellitus (HP:0005978)2.91508101
35Cone-rod dystrophy (HP:0000548)2.90193123
36Atonic seizures (HP:0010819)2.86851645
37Intestinal atresia (HP:0011100)2.80370946
38Polar cataract (HP:0010696)2.74520099
39Focal seizures (HP:0007359)2.69672691
40Optic disc pallor (HP:0000543)2.67517878
41Thyroid-stimulating hormone excess (HP:0002925)2.63102698
42Vaginal atresia (HP:0000148)2.61832851
43Genital tract atresia (HP:0001827)2.59761085
44Macular degeneration (HP:0000608)2.57932535
45Absence seizures (HP:0002121)2.56887236
46Action tremor (HP:0002345)2.56797200
47Impaired vibration sensation in the lower limbs (HP:0002166)2.56012544
48Chorioretinal coloboma (HP:0000567)2.55147475
49True hermaphroditism (HP:0010459)2.50618148
50Poor coordination (HP:0002370)2.50500388
51Protruding tongue (HP:0010808)2.50002421
52Septo-optic dysplasia (HP:0100842)2.49718924
53Progressive cerebellar ataxia (HP:0002073)2.48383470
54Aplasia involving bones of the upper limbs (HP:0009823)2.46239962
55Aplasia of the phalanges of the hand (HP:0009802)2.46239962
56Aplasia involving bones of the extremities (HP:0009825)2.46239962
57Choroideremia (HP:0001139)2.46025588
58Aplasia/Hypoplasia of the lens (HP:0008063)2.43274782
59Dialeptic seizures (HP:0011146)2.40334776
60Drooling (HP:0002307)2.40301125
61Excessive salivation (HP:0003781)2.40301125
62Esotropia (HP:0000565)2.38555761
63Chin dimple (HP:0010751)2.30276362
64Dysdiadochokinesis (HP:0002075)2.29340359
65Thyroiditis (HP:0100646)2.27962642
66Pancreatic fibrosis (HP:0100732)2.22197273
67Absent/shortened dynein arms (HP:0200106)2.21218266
68Dynein arm defect of respiratory motile cilia (HP:0012255)2.21218266
69Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.16545648
70Hepatoblastoma (HP:0002884)2.14585600
71Oligodactyly (HP:0012165)2.13506348
72Hemiparesis (HP:0001269)2.11268028
73Gaze-evoked nystagmus (HP:0000640)2.11152810
74Vitreoretinal degeneration (HP:0000655)2.10760807
75Generalized tonic-clonic seizures (HP:0002069)2.09426485
76Buphthalmos (HP:0000557)2.06589894
77Congenital sensorineural hearing impairment (HP:0008527)2.03847308
78Amblyopia (HP:0000646)2.00826527
79Absent speech (HP:0001344)1.99650792
80Growth hormone deficiency (HP:0000824)1.98344138
81Molar tooth sign on MRI (HP:0002419)1.97983939
82Abnormality of midbrain morphology (HP:0002418)1.97983939
83Constricted visual fields (HP:0001133)1.96113635
84Alacrima (HP:0000522)1.96059789
85Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.95834724
86Optic nerve hypoplasia (HP:0000609)1.95599449
87Absent septum pellucidum (HP:0001331)1.94017219
88Spastic gait (HP:0002064)1.93787714
89Short chin (HP:0000331)1.93638719
90Double outlet right ventricle (HP:0001719)1.93348963
91Congenital malformation of the right heart (HP:0011723)1.93348963
92Pancreatic cysts (HP:0001737)1.90083621
93Hypoplastic left heart (HP:0004383)1.89106781
94Urinary bladder sphincter dysfunction (HP:0002839)1.88138107
95Posterior subcapsular cataract (HP:0007787)1.87792182
96Decreased lacrimation (HP:0000633)1.86542858
97Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.85752150
98Short 4th metacarpal (HP:0010044)1.85752150
99Megalencephaly (HP:0001355)1.84858008
100Abnormality of the septum pellucidum (HP:0007375)1.84814182
101Hyperthyroidism (HP:0000836)1.84783415
102Renal hypoplasia (HP:0000089)1.83661250
103Hypoplasia of the fovea (HP:0007750)1.83084665
104Aplasia/Hypoplasia of the fovea (HP:0008060)1.83084665
105Abnormal ciliary motility (HP:0012262)1.83011991
106Abnormal sex determination (HP:0012244)1.82663620
107Sex reversal (HP:0012245)1.82663620
108Chronic hepatic failure (HP:0100626)1.82298498
109Specific learning disability (HP:0001328)1.81504171
110Epileptiform EEG discharges (HP:0011182)1.79684647
111Iris coloboma (HP:0000612)1.78975105
112Renovascular hypertension (HP:0100817)1.78876773
113Limb dystonia (HP:0002451)1.78498946
114Clumsiness (HP:0002312)1.78347237
115Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.76650495
116Aplasia/Hypoplasia of the macula (HP:0008059)1.75973919
117Abnormal hair whorl (HP:0010721)1.72846358
118Urinary urgency (HP:0000012)1.70709291
119Abnormal eating behavior (HP:0100738)1.70465978
120Sclerocornea (HP:0000647)1.70419821
121Thickened helices (HP:0000391)1.69811671
122Tubulointerstitial nephritis (HP:0001970)1.69004100
123Anophthalmia (HP:0000528)1.67895732
124Neoplasm of the adrenal cortex (HP:0100641)1.67396655
125Blue irides (HP:0000635)1.67096254
126Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.67054988
127Abnormality of salivation (HP:0100755)1.66144671
128Nephronophthisis (HP:0000090)1.65705543
129Truncal ataxia (HP:0002078)1.65583499
130Abnormality of the renal medulla (HP:0100957)1.64576731
131Abnormality of the fovea (HP:0000493)1.60506462
132Abnormal respiratory motile cilium physiology (HP:0012261)1.60069067
133Visual hallucinations (HP:0002367)1.58618730
134Degeneration of the lateral corticospinal tracts (HP:0002314)1.57955297
135Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.57955297
136Broad foot (HP:0001769)1.57241065
137Synostosis involving the elbow (HP:0003938)1.57219115
138Humeroradial synostosis (HP:0003041)1.57219115
139Postaxial hand polydactyly (HP:0001162)1.57218410
140Decreased electroretinogram (ERG) amplitude (HP:0000654)1.56896356
141Aplasia/Hypoplasia of the tongue (HP:0010295)1.56740744

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK9.33366801
2EPHA43.02384562
3MUSK2.75756517
4MKNK22.70491735
5TNIK2.57905679
6MAP2K72.37615994
7CCNB12.35427358
8FRK2.30769644
9DAPK22.23184068
10AKT32.18068586
11CDK192.02479675
12NTRK21.93644506
13PRPF4B1.83444645
14EPHB21.77395749
15PBK1.75457637
16NTRK31.72898566
17GRK11.66076205
18MAP3K41.57922497
19MAP4K21.54569468
20PLK21.53839130
21MAPK131.52430100
22MARK11.51620454
23ZAK1.49851676
24OXSR11.48910880
25SGK21.45515251
26MKNK11.42277910
27SGK2231.42104662
28SGK4941.42104662
29PHKG21.38271317
30PHKG11.38271317
31CDK31.29211137
32DYRK1A1.21481931
33PAK31.18400086
34PNCK1.13493190
35CAMKK21.12270271
36ERBB21.11036873
37DYRK31.07906457
38NTRK11.07857937
39INSRR1.06753390
40MAPK121.05869423
41YES11.02360043
42FES1.01082071
43MAPK70.99465816
44PAK60.96978600
45ADRBK10.96178895
46CAMK2A0.95466086
47WNK40.94298757
48DYRK1B0.85058523
49MAP2K40.83417745
50FGR0.82831839
51BMPR1B0.80077474
52TYRO30.79349428
53MAP3K120.79166325
54PKN10.78768640
55DAPK10.78741157
56SGK30.78310630
57SRPK10.77931402
58PRKCH0.76555575
59STK38L0.75540602
60PRKCE0.74051557
61CDK50.72984978
62PINK10.72841088
63NEK60.72542562
64CSNK1G20.71806197
65CAMK2B0.70175578
66TLK10.70102042
67IRAK20.69876236
68PRKCG0.69519384
69WNK10.69440639
70PRKCZ0.68786279
71LATS20.68773985
72GRK50.66936948
73SIK30.65651904
74MARK20.64558828
75LATS10.64113044
76MINK10.63104283
77FER0.62697375
78SGK10.61590971
79PRKD30.60057955
80CAMK2D0.53446196
81CSNK1E0.53318295
82STK390.52337507
83STK110.52289301
84SIK20.50390496
85PIK3CA0.50197800
86STK380.49118638
87WNK30.48823662
88BMPR20.48747810
89UHMK10.47512751
90GRK70.47142923
91CAMK10.46922882
92BRAF0.46806574
93MAP3K60.45161131
94FGFR20.43620034
95ADRBK20.42999918
96TRIM280.42982917
97PRKG10.42974817
98PRKACA0.42126448
99BLK0.41697693
100CDC70.41641133
101PDGFRB0.41597331
102CSNK1A10.41392107
103FYN0.41381064
104ROCK20.40875045
105NUAK10.39790184
106CAMK1G0.39378046
107CDK180.39341776
108ERBB30.38573049
109PRKAA10.36950619
110CDK140.36849344
111BCR0.36801776
112CDK150.36506628
113CAMKK10.35073726
114KSR10.34879838
115PLK30.32401342
116TNK20.31541909
117STK160.31472487
118CAMK40.30466081
119CDK11A0.29850830
120DAPK30.29684136
121PRKCA0.29167768
122CSNK1G30.29010653
123RPS6KA30.28618991
124CAMK2G0.28203751
125NME10.27946415
126CSNK1A1L0.27447546
127CSNK1G10.27227324
128CSNK1D0.26788707
129DYRK20.26755374

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047448.27767340
2Nicotine addiction_Homo sapiens_hsa050333.84246785
3Synaptic vesicle cycle_Homo sapiens_hsa047212.98579913
4GABAergic synapse_Homo sapiens_hsa047272.70002538
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.69670175
6Morphine addiction_Homo sapiens_hsa050322.58189937
7Glutamatergic synapse_Homo sapiens_hsa047242.43167393
8Circadian entrainment_Homo sapiens_hsa047132.30562322
9Olfactory transduction_Homo sapiens_hsa047402.20446399
10Serotonergic synapse_Homo sapiens_hsa047261.94781466
11Insulin secretion_Homo sapiens_hsa049111.82111559
12Salivary secretion_Homo sapiens_hsa049701.77807858
13* Circadian rhythm_Homo sapiens_hsa047101.77642145
14Amphetamine addiction_Homo sapiens_hsa050311.72638013
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.71437185
16Taste transduction_Homo sapiens_hsa047421.66718429
17Dopaminergic synapse_Homo sapiens_hsa047281.64998528
18Cholinergic synapse_Homo sapiens_hsa047251.59993954
19Long-term potentiation_Homo sapiens_hsa047201.57262677
20Collecting duct acid secretion_Homo sapiens_hsa049661.51478871
21Renin secretion_Homo sapiens_hsa049241.43812729
22Long-term depression_Homo sapiens_hsa047301.36601435
23Calcium signaling pathway_Homo sapiens_hsa040201.33246701
24Fatty acid biosynthesis_Homo sapiens_hsa000611.27503728
25Cocaine addiction_Homo sapiens_hsa050301.26553605
26Oxytocin signaling pathway_Homo sapiens_hsa049211.25598335
27Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.24080389
28Axon guidance_Homo sapiens_hsa043601.22139407
29Gastric acid secretion_Homo sapiens_hsa049711.18465780
30Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.07347359
31Butanoate metabolism_Homo sapiens_hsa006501.06592564
32Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.06010499
33Aldosterone synthesis and secretion_Homo sapiens_hsa049251.05933618
34cAMP signaling pathway_Homo sapiens_hsa040241.03328111
35Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02735336
36Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.02235790
37Melanogenesis_Homo sapiens_hsa049161.00133611
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00124200
39Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.98574174
40Ether lipid metabolism_Homo sapiens_hsa005650.94993122
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90008714
42Systemic lupus erythematosus_Homo sapiens_hsa053220.88875958
43Wnt signaling pathway_Homo sapiens_hsa043100.88674779
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87956406
45Cardiac muscle contraction_Homo sapiens_hsa042600.87341011
46ABC transporters_Homo sapiens_hsa020100.85431390
47Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85031841
48SNARE interactions in vesicular transport_Homo sapiens_hsa041300.84616121
49Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.82877627
50Alcoholism_Homo sapiens_hsa050340.76757336
51Gap junction_Homo sapiens_hsa045400.75489587
52Vibrio cholerae infection_Homo sapiens_hsa051100.74719258
53Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.74337108
54GnRH signaling pathway_Homo sapiens_hsa049120.74289200
55Oocyte meiosis_Homo sapiens_hsa041140.73905176
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73823166
57Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.72941913
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70816862
59Lysine degradation_Homo sapiens_hsa003100.69620330
60Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68060581
61Ras signaling pathway_Homo sapiens_hsa040140.67889701
62ErbB signaling pathway_Homo sapiens_hsa040120.67308756
63Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67228165
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.66948743
65Fatty acid elongation_Homo sapiens_hsa000620.66835426
66Carbohydrate digestion and absorption_Homo sapiens_hsa049730.66576259
67Nitrogen metabolism_Homo sapiens_hsa009100.66203271
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66019050
69Pancreatic secretion_Homo sapiens_hsa049720.62368603
70Oxidative phosphorylation_Homo sapiens_hsa001900.62106636
71Bile secretion_Homo sapiens_hsa049760.61029050
72Dilated cardiomyopathy_Homo sapiens_hsa054140.59524530
73MAPK signaling pathway_Homo sapiens_hsa040100.57632542
74Basal cell carcinoma_Homo sapiens_hsa052170.57244449
75Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54907180
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54558173
77Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53895618
78Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.53658609
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51886678
80Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.51605727
81Hedgehog signaling pathway_Homo sapiens_hsa043400.50692539
82Endometrial cancer_Homo sapiens_hsa052130.50463926
83Sphingolipid metabolism_Homo sapiens_hsa006000.49305045
84Melanoma_Homo sapiens_hsa052180.48924784
85Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.47831019
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46423207
87Phospholipase D signaling pathway_Homo sapiens_hsa040720.46024150
88Rheumatoid arthritis_Homo sapiens_hsa053230.43684643
89Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42155897
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39256800
91Alzheimers disease_Homo sapiens_hsa050100.39102883
92Inositol phosphate metabolism_Homo sapiens_hsa005620.38263005
93Maturity onset diabetes of the young_Homo sapiens_hsa049500.37946067
94Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37421042
95Steroid biosynthesis_Homo sapiens_hsa001000.37180384
96Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36962005
97Tryptophan metabolism_Homo sapiens_hsa003800.36906117
98Regulation of autophagy_Homo sapiens_hsa041400.34883819
99Renal cell carcinoma_Homo sapiens_hsa052110.34142542
100Glucagon signaling pathway_Homo sapiens_hsa049220.34064640
101Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33965230
102Ovarian steroidogenesis_Homo sapiens_hsa049130.33898088
103Estrogen signaling pathway_Homo sapiens_hsa049150.33651818
104Choline metabolism in cancer_Homo sapiens_hsa052310.31714197
105Mineral absorption_Homo sapiens_hsa049780.31506553
106African trypanosomiasis_Homo sapiens_hsa051430.30841199
107Neurotrophin signaling pathway_Homo sapiens_hsa047220.30353889
108Non-small cell lung cancer_Homo sapiens_hsa052230.30175678
109Rap1 signaling pathway_Homo sapiens_hsa040150.30060282
110Thyroid hormone synthesis_Homo sapiens_hsa049180.29797370
111Tight junction_Homo sapiens_hsa045300.29432663
112Thyroid cancer_Homo sapiens_hsa052160.28778822
113Dorso-ventral axis formation_Homo sapiens_hsa043200.28459624
114Glioma_Homo sapiens_hsa052140.28178140
115Thyroid hormone signaling pathway_Homo sapiens_hsa049190.25712836
116Autoimmune thyroid disease_Homo sapiens_hsa053200.24298986
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.21616658
118Type II diabetes mellitus_Homo sapiens_hsa049300.21364243
119Retinol metabolism_Homo sapiens_hsa008300.20457317
120Sphingolipid signaling pathway_Homo sapiens_hsa040710.16488600
121Colorectal cancer_Homo sapiens_hsa052100.16336949
122Hippo signaling pathway_Homo sapiens_hsa043900.15935718

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