OPN1MW

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 encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* detection of visible light (GO:0009584)9.89673565
2* detection of light stimulus (GO:0009583)9.65666965
3regulation of guanylate cyclase activity (GO:0031282)9.23291493
4* protein-chromophore linkage (GO:0018298)8.85716858
5retinal rod cell development (GO:0046548)8.42764588
6* visual perception (GO:0007601)8.24604839
7* sensory perception of light stimulus (GO:0050953)8.14930767
8GMP metabolic process (GO:0046037)8.10076200
9cellular response to light stimulus (GO:0071482)7.14862997
10* detection of external stimulus (GO:0009581)6.75281389
11detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)6.69844252
12* detection of abiotic stimulus (GO:0009582)6.61723034
13regulation of cGMP metabolic process (GO:0030823)6.20157067
14regulation of inhibitory postsynaptic membrane potential (GO:0060080)6.19738180
15positive regulation of cGMP biosynthetic process (GO:0030828)6.01694450
16eye photoreceptor cell differentiation (GO:0001754)5.70120228
17photoreceptor cell differentiation (GO:0046530)5.70120228
18retina development in camera-type eye (GO:0060041)5.67957318
19regulation of cGMP biosynthetic process (GO:0030826)5.64864982
20positive regulation of cGMP metabolic process (GO:0030825)5.30935045
21positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.87777283
22cellular response to radiation (GO:0071478)4.58941432
23adaptation of signaling pathway (GO:0023058)4.45169308
24estrogen biosynthetic process (GO:0006703)4.36344701
25nonmotile primary cilium assembly (GO:0035058)4.33410075
26receptor guanylyl cyclase signaling pathway (GO:0007168)4.29504336
27regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)4.26521807
28regulation of clathrin-mediated endocytosis (GO:2000369)3.95437320
29positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)3.92798904
30* sensory perception (GO:0007600)3.89311051
31regulation of voltage-gated calcium channel activity (GO:1901385)3.88643241
32positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.82018246
33regulation of short-term neuronal synaptic plasticity (GO:0048172)3.77233424
34detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.76308904
35cell morphogenesis involved in neuron differentiation (GO:0048667)3.71470790
36* response to light stimulus (GO:0009416)3.71452966
37positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)3.69034748
38behavioral response to ethanol (GO:0048149)3.60734359
39retina layer formation (GO:0010842)3.57886492
40response to histamine (GO:0034776)3.56395989
41detection of chemical stimulus involved in sensory perception (GO:0050907)3.56149585
42membrane hyperpolarization (GO:0060081)3.48120172
43CDP-diacylglycerol biosynthetic process (GO:0016024)3.46683775
44positive regulation of ERBB signaling pathway (GO:1901186)3.44418092
45positive regulation of neurotransmitter transport (GO:0051590)3.40186870
46positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.39009390
47short-term memory (GO:0007614)3.37545002
48neuron development (GO:0048666)3.33043415
49chemosensory behavior (GO:0007635)3.27405503
50regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.27388237
51regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.27388237
52positive regulation of sodium ion transmembrane transport (GO:1902307)3.15129625
53CDP-diacylglycerol metabolic process (GO:0046341)3.13466877
54positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.12846088
55protein localization to synapse (GO:0035418)3.12739854
56protein prenylation (GO:0018342)3.12108585
57prenylation (GO:0097354)3.12108585
58synaptic vesicle docking involved in exocytosis (GO:0016081)3.08868307
59regulation of penile erection (GO:0060405)3.01448338
60synaptic vesicle maturation (GO:0016188)2.96676407
61phospholipid translocation (GO:0045332)2.92144438
62lipid translocation (GO:0034204)2.92144438
63positive regulation of cyclase activity (GO:0031281)2.82724610
64righting reflex (GO:0060013)2.79181524
65* retinoid metabolic process (GO:0001523)2.77643882
66response to pheromone (GO:0019236)2.77310379
67startle response (GO:0001964)2.68918113
68cellular potassium ion homeostasis (GO:0030007)2.67780820
69negative regulation of receptor-mediated endocytosis (GO:0048261)2.66916369
70peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.66407755
71negative regulation of transcription regulatory region DNA binding (GO:2000678)2.62588128
72retina homeostasis (GO:0001895)2.60724363
73positive regulation of lyase activity (GO:0051349)2.58050515
74* diterpenoid metabolic process (GO:0016101)2.57528598
75behavioral response to cocaine (GO:0048148)2.55952087
76dopamine receptor signaling pathway (GO:0007212)2.54656573
77* response to radiation (GO:0009314)2.51086138
78mitochondrion transport along microtubule (GO:0047497)2.50159731
79establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.50159731
80synaptic transmission, dopaminergic (GO:0001963)2.48652608
81negative regulation of cation channel activity (GO:2001258)2.48257855
82arachidonic acid secretion (GO:0050482)2.45214212
83icosanoid secretion (GO:0032309)2.45214212
84negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.45078482
85negative regulation of calcium ion transmembrane transport (GO:1903170)2.45078482
86post-embryonic morphogenesis (GO:0009886)2.43004447
87sodium ion export (GO:0071436)2.38549484
88negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.37510692
89* terpenoid metabolic process (GO:0006721)2.35819117
90regulation of rhodopsin mediated signaling pathway (GO:0022400)17.5171926
91rhodopsin mediated signaling pathway (GO:0016056)17.1229865
92retinal cone cell development (GO:0046549)17.1127355
93detection of light stimulus involved in sensory perception (GO:0050962)11.6183476
94detection of light stimulus involved in visual perception (GO:0050908)11.6183476
95photoreceptor cell development (GO:0042461)11.3008482
96eye photoreceptor cell development (GO:0042462)10.9835412
97photoreceptor cell maintenance (GO:0045494)10.7393530
98* phototransduction, visible light (GO:0007603)10.2408563
99* phototransduction (GO:0007602)10.2255594
100positive regulation of guanylate cyclase activity (GO:0031284)10.2174423

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.62613299
2GBX2_23144817_ChIP-Seq_PC3_Human3.51801787
3* CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse3.33937478
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.92194122
5VDR_22108803_ChIP-Seq_LS180_Human2.62932496
6DROSHA_22980978_ChIP-Seq_HELA_Human2.60575108
7CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.32085971
8SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.16413413
9AR_21572438_ChIP-Seq_LNCaP_Human2.08935099
10DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.92000936
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.90518473
12SMAD3_21741376_ChIP-Seq_HESCs_Human1.89142399
13SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.87376658
14RARB_27405468_Chip-Seq_BRAIN_Mouse1.85744652
15BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.84224340
16MTF2_20144788_ChIP-Seq_MESCs_Mouse1.80345368
17REST_21632747_ChIP-Seq_MESCs_Mouse1.77195554
18PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71622018
19SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.71172440
20IGF1R_20145208_ChIP-Seq_DFB_Human1.69924533
21P53_22127205_ChIP-Seq_FIBROBLAST_Human1.69478556
22EZH2_27294783_Chip-Seq_ESCs_Mouse1.65863212
23REST_18959480_ChIP-ChIP_MESCs_Mouse1.62606030
24AR_19668381_ChIP-Seq_PC3_Human1.62374709
25SUZ12_27294783_Chip-Seq_ESCs_Mouse1.61356218
26KDM2B_26808549_Chip-Seq_K562_Human1.55978930
27SMAD4_21799915_ChIP-Seq_A2780_Human1.52431031
28POU3F2_20337985_ChIP-ChIP_501MEL_Human1.52263231
29CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51351800
30TCF4_18268006_ChIP-ChIP_LS174T_Human1.45792610
31TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.45064256
32BCAT_22108803_ChIP-Seq_LS180_Human1.43110117
33EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.40606242
34MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40117421
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.40053607
36SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.37094496
37JARID2_20075857_ChIP-Seq_MESCs_Mouse1.36270339
38EZH2_18974828_ChIP-Seq_MESCs_Mouse1.36072585
39RNF2_18974828_ChIP-Seq_MESCs_Mouse1.36072585
40EP300_21415370_ChIP-Seq_HL-1_Mouse1.34988362
41STAT3_23295773_ChIP-Seq_U87_Human1.34630709
42RING1B_27294783_Chip-Seq_NPCs_Mouse1.31260581
43TBL1_22424771_ChIP-Seq_293T_Human1.30057736
44GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.28898637
45ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.25307527
46TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.24050907
47ISL1_27105846_Chip-Seq_CPCs_Mouse1.22604980
48IKZF1_21737484_ChIP-ChIP_HCT116_Human1.21598611
49RNF2_27304074_Chip-Seq_ESCs_Mouse1.21119673
50TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21016961
51PRDM14_20953172_ChIP-Seq_ESCs_Human1.20989825
52SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.18968303
53JARID2_20064375_ChIP-Seq_MESCs_Mouse1.18508929
54EZH2_27304074_Chip-Seq_ESCs_Mouse1.18476704
55SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.17146118
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16281654
57YAP1_20516196_ChIP-Seq_MESCs_Mouse1.15490791
58P300_19829295_ChIP-Seq_ESCs_Human1.15427228
59DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.14751428
60GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14488207
61SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13503211
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.13410256
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.12222253
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.11897689
65CREB1_26743006_Chip-Seq_LNCaP_Human1.11249640
66ER_23166858_ChIP-Seq_MCF-7_Human1.09159185
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.07137137
68TCF4_23295773_ChIP-Seq_U87_Human1.05818109
69SMAD4_21741376_ChIP-Seq_HESCs_Human1.05418083
70WDR5_24793694_ChIP-Seq_LNCAP_Human1.04988927
71PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03194332
72CTCF_27219007_Chip-Seq_Bcells_Human1.01918553
73AHR_22903824_ChIP-Seq_MCF-7_Human1.00894051
74RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00407667
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00153321
76OCT1_27270436_Chip-Seq_PROSTATE_Human0.99883428
77CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99774022
78CBP_21632823_ChIP-Seq_H3396_Human0.98255659
79ARNT_22903824_ChIP-Seq_MCF-7_Human0.95680229
80ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94711325
81LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94493964
82RING1B_27294783_Chip-Seq_ESCs_Mouse0.94039704
83SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.93368989
84TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93077304
85SOX2_21211035_ChIP-Seq_LN229_Gbm0.92960538
86SMC4_20622854_ChIP-Seq_HELA_Human0.92814796
87CTBP2_25329375_ChIP-Seq_LNCAP_Human0.92789409
88SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.92577288
89DPY_21335234_ChIP-Seq_ESCs_Mouse0.92455615
90VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.91489047
91NANOG_18555785_Chip-Seq_ESCs_Mouse0.90986400
92TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90736089
93KDM2B_26808549_Chip-Seq_JURKAT_Human0.90613541
94TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89969387
95TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89616147
96GATA1_19941827_ChIP-Seq_MEL_Mouse0.89159702
97GF1_26923725_Chip-Seq_HPCs_Mouse0.88346200
98FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.88076969
99LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87043376
100SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.87032355

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005551_abnormal_eye_electrophysiolog9.84839063
2MP0005253_abnormal_eye_physiology6.79671139
3MP0006072_abnormal_retinal_apoptosis6.46448459
4MP0005195_abnormal_posterior_eye3.74226077
5MP0003950_abnormal_plasma_membrane3.74006908
6MP0001324_abnormal_eye_pigmentation3.30980388
7MP0005391_vision/eye_phenotype3.23087767
8MP0005423_abnormal_somatic_nervous2.74694355
9MP0002229_neurodegeneration2.66807355
10* MP0002090_abnormal_vision2.49739880
11MP0002638_abnormal_pupillary_reflex2.16882441
12MP0003011_delayed_dark_adaptation10.9974938
13MP0002752_abnormal_somatic_nervous1.88682323
14MP0001764_abnormal_homeostasis1.77182529
15MP0001986_abnormal_taste_sensitivity1.64913625
16MP0004233_abnormal_muscle_weight1.53341833
17MP0004019_abnormal_vitamin_homeostasis1.51359002
18MP0002653_abnormal_ependyma_morphology1.43719394
19MP0002882_abnormal_neuron_morphology1.40436301
20MP0004270_analgesia1.20016340
21MP0001486_abnormal_startle_reflex1.17763486
22MP0001984_abnormal_olfaction1.14149405
23MP0001502_abnormal_circadian_rhythm1.06858611
24MP0003880_abnormal_central_pattern0.98590906
25MP0004885_abnormal_endolymph0.93896592
26MP0002332_abnormal_exercise_endurance0.93246273
27MP0005197_abnormal_uvea_morphology0.80236343
28MP0008004_abnormal_stomach_pH0.78515351
29MP0004859_abnormal_synaptic_plasticity0.76866053
30MP0002272_abnormal_nervous_system0.74898965
31MP0003635_abnormal_synaptic_transmissio0.74187038
32MP0002064_seizures0.72426451
33MP0003634_abnormal_glial_cell0.70281054
34MP0006292_abnormal_olfactory_placode0.68695146
35MP0001968_abnormal_touch/_nociception0.66725018
36MP0000465_gastrointestinal_hemorrhage0.66704654
37MP0002734_abnormal_mechanical_nocicepti0.66495742
38MP0002127_abnormal_cardiovascular_syste0.65855097
39MP0005394_taste/olfaction_phenotype0.62112574
40MP0005499_abnormal_olfactory_system0.62112574
41MP0004924_abnormal_behavior0.60394466
42MP0005386_behavior/neurological_phenoty0.60394466
43MP0002063_abnormal_learning/memory/cond0.57712408
44MP0002572_abnormal_emotion/affect_behav0.57570343
45MP0004145_abnormal_muscle_electrophysio0.56342648
46MP0009046_muscle_twitch0.53970981
47MP0001963_abnormal_hearing_physiology0.51475856
48MP0002067_abnormal_sensory_capabilities0.51296072
49MP0004215_abnormal_myocardial_fiber0.50268460
50MP0009745_abnormal_behavioral_response0.49850339
51MP0002909_abnormal_adrenal_gland0.48919017
52MP0001286_abnormal_eye_development0.48341490
53MP0010386_abnormal_urinary_bladder0.46390741
54MP0005187_abnormal_penis_morphology0.46006567
55MP0003045_fibrosis0.45986376
56MP0010368_abnormal_lymphatic_system0.44436907
57MP0005620_abnormal_muscle_contractility0.43876674
58MP0005376_homeostasis/metabolism_phenot0.42157697
59MP0004185_abnormal_adipocyte_glucose0.41484593
60MP0008789_abnormal_olfactory_epithelium0.41378473
61MP0004130_abnormal_muscle_cell0.39314114
62MP0009780_abnormal_chondrocyte_physiolo0.37472099
63MP0003646_muscle_fatigue0.36222152
64MP0004742_abnormal_vestibular_system0.34693054
65MP0000749_muscle_degeneration0.34454952
66MP0008569_lethality_at_weaning0.34431070
67MP0003890_abnormal_embryonic-extraembry0.33992336
68MP0000631_abnormal_neuroendocrine_gland0.33948569
69MP0004085_abnormal_heartbeat0.33756891
70MP0000751_myopathy0.32173051
71MP0005330_cardiomyopathy0.30210455
72MP0004782_abnormal_surfactant_physiolog0.28962529
73MP0002066_abnormal_motor_capabilities/c0.28923264
74MP0001905_abnormal_dopamine_level0.27784564
75MP0003252_abnormal_bile_duct0.27645627
76MP0005076_abnormal_cell_differentiation0.26548175
77MP0000759_abnormal_skeletal_muscle0.24804130
78MP0005365_abnormal_bile_salt0.24480031
79MP0004036_abnormal_muscle_relaxation0.24410337
80MP0002152_abnormal_brain_morphology0.24300497
81MP0002972_abnormal_cardiac_muscle0.23712909
82MP0005248_abnormal_Harderian_gland0.23477033
83MP0002108_abnormal_muscle_morphology0.22933533
84MP0004142_abnormal_muscle_tone0.22810228
85MP0002928_abnormal_bile_duct0.22423631
86MP0001879_abnormal_lymphatic_vessel0.21440655
87MP0005646_abnormal_pituitary_gland0.20450731
88MP0008875_abnormal_xenobiotic_pharmacok0.20427373
89MP0001915_intracranial_hemorrhage0.19735777
90MP0004811_abnormal_neuron_physiology0.19088043
91MP0004087_abnormal_muscle_fiber0.18866557
92MP0000026_abnormal_inner_ear0.17952845
93MP0002184_abnormal_innervation0.17858535
94MP0005334_abnormal_fat_pad0.17759612
95MP0004043_abnormal_pH_regulation0.17712043
96MP0003137_abnormal_impulse_conducting0.17691798
97MP0000747_muscle_weakness0.17532523
98MP0002971_abnormal_brown_adipose0.16400948
99MP0001970_abnormal_pain_threshold0.16171227
100MP0002269_muscular_atrophy0.15525841

Predicted human phenotypes

RankGene SetZ-score
1Absent rod-and cone-mediated responses on ERG (HP:0007688)9.96410482
2Central scotoma (HP:0000603)9.21036251
3Abnormal rod and cone electroretinograms (HP:0008323)9.13380635
4Pigmentary retinal degeneration (HP:0001146)8.67179834
5Scotoma (HP:0000575)8.11700397
6Attenuation of retinal blood vessels (HP:0007843)7.58011695
7Pendular nystagmus (HP:0012043)7.47918110
8* Abnormality of macular pigmentation (HP:0008002)7.24125472
9Chorioretinal atrophy (HP:0000533)7.22212983
10Decreased central vision (HP:0007663)6.86687064
11Abolished electroretinogram (ERG) (HP:0000550)6.42934746
12* Photophobia (HP:0000613)5.82487638
13Vitreoretinal degeneration (HP:0000655)5.46999710
14Type II diabetes mellitus (HP:0005978)5.44507144
15Macular degeneration (HP:0000608)5.37722893
16Posterior subcapsular cataract (HP:0007787)5.31288863
17Severe visual impairment (HP:0001141)5.25163000
18Choroideremia (HP:0001139)5.01737902
19Cone-rod dystrophy (HP:0000548)4.77616776
20Constricted visual fields (HP:0001133)4.42832863
21Retinitis pigmentosa (HP:0000510)4.22712514
22Increased corneal curvature (HP:0100692)4.19280452
23Keratoconus (HP:0000563)4.19280452
24Decreased electroretinogram (ERG) amplitude (HP:0000654)3.63762283
25Subcapsular cataract (HP:0000523)3.33765102
26Retinal atrophy (HP:0001105)3.17842493
27Congenital sensorineural hearing impairment (HP:0008527)3.16579657
28Progressive visual loss (HP:0000529)3.09952172
29Optic disc pallor (HP:0000543)2.79473679
30Wide nasal bridge (HP:0000431)2.42102117
31Gait imbalance (HP:0002141)2.13686849
32Congenital primary aphakia (HP:0007707)2.10860730
33Horizontal nystagmus (HP:0000666)2.06178716
34Congenital stationary night blindness (HP:0007642)14.7418677
35Bony spicule pigmentary retinopathy (HP:0007737)11.4593575
36* Dyschromatopsia (HP:0007641)10.3621216
37Polar cataract (HP:0010696)1.87421417
38Nephrogenic diabetes insipidus (HP:0009806)1.85158496
39Medial flaring of the eyebrow (HP:0010747)1.76884948
40Severe Myopia (HP:0011003)1.72835075
41Poor coordination (HP:0002370)1.63007610
42Epileptic encephalopathy (HP:0200134)1.54611214
43Optic atrophy (HP:0000648)1.53736474
44Dysdiadochokinesis (HP:0002075)1.53282630
45Interstitial pulmonary disease (HP:0006530)1.47122334
46Vaginal atresia (HP:0000148)1.44864490
47Febrile seizures (HP:0002373)1.40247989
48Genital tract atresia (HP:0001827)1.38837778
49Retinal detachment (HP:0000541)1.26900694
50Truncal ataxia (HP:0002078)1.24288955
51Aplasia/Hypoplasia of the lens (HP:0008063)1.21219268
52Progressive cerebellar ataxia (HP:0002073)1.20024907
53Genetic anticipation (HP:0003743)1.19513593
54True hermaphroditism (HP:0010459)1.13154481
55Visual hallucinations (HP:0002367)1.10233864
56Pancreatic fibrosis (HP:0100732)1.09388811
57Prolonged QT interval (HP:0001657)1.05648547
58Broad-based gait (HP:0002136)1.04413142
59Astigmatism (HP:0000483)1.01153982
60Chorioretinal coloboma (HP:0000567)0.98638731
61Macroorchidism (HP:0000053)0.98596630
62Left ventricular hypertrophy (HP:0001712)0.96629247
63Hyperventilation (HP:0002883)0.92376858
64Dysmetric saccades (HP:0000641)0.88211016
65Abnormality of the fovea (HP:0000493)0.87090751
66Broad foot (HP:0001769)0.86752294
67Specific learning disability (HP:0001328)0.86694410
68Cystic liver disease (HP:0006706)0.86661897
69Abnormal EKG (HP:0003115)0.84990637
70Pancreatic cysts (HP:0001737)0.83591442
71Hypermetropia (HP:0000540)0.82583879
72Recurrent sinusitis (HP:0011108)0.81058425
73Hypoplasia of the fovea (HP:0007750)0.80100863
74Aplasia/Hypoplasia of the fovea (HP:0008060)0.80100863
75Aplasia/Hypoplasia of the tongue (HP:0010295)0.80034734
76Asthma (HP:0002099)0.79170070
77Gaze-evoked nystagmus (HP:0000640)0.79047682
78Abnormality of the fingertips (HP:0001211)0.78747058
79Syncope (HP:0001279)0.76090548
80Scanning speech (HP:0002168)0.75701008
81Depression (HP:0000716)0.74408027
82Molar tooth sign on MRI (HP:0002419)0.73474712
83Abnormality of midbrain morphology (HP:0002418)0.73474712
84Hypoventilation (HP:0002791)0.73368197
85Postural instability (HP:0002172)0.73196457
86Decreased testicular size (HP:0008734)0.72455764
87Aqueductal stenosis (HP:0002410)0.71675229
88Chronic hepatic failure (HP:0100626)0.70918350
89Sclerocornea (HP:0000647)0.69716424
90Furrowed tongue (HP:0000221)0.67910064
91Cerebellar dysplasia (HP:0007033)0.67535236
92Absence seizures (HP:0002121)0.67353979
93Generalized myoclonic seizures (HP:0002123)0.66659999
94Urinary bladder sphincter dysfunction (HP:0002839)0.66588859
95Truncal obesity (HP:0001956)0.65845696
96Abnormality of dental color (HP:0011073)0.65506009
97Abnormality of the parathyroid morphology (HP:0011766)0.63552573
98Absent speech (HP:0001344)0.63298163
99Abnormality of ocular smooth pursuit (HP:0000617)0.63210553
100Short foot (HP:0001773)0.62930853

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK5.32866893
2PINK13.10915578
3CAMK1G2.10304073
4GRK111.3943188
5CDK121.82195815
6CAMK1D1.72446901
7ADRBK11.71821391
8MAPK121.67922998
9SIK21.65400447
10MAPK71.57869140
11STK381.54359754
12INSRR1.51689167
13PNCK1.49858758
14HIPK21.49601048
15BRD41.47429658
16PAK61.46487068
17MAP3K41.43685553
18IRAK21.37476908
19TAOK31.35107129
20MARK11.31685959
21AKT31.11035385
22SGK21.08624813
23CSNK1D1.08017582
24PRKCH1.03333233
25MAP3K101.02909652
26SGK4941.01901026
27SGK2231.01901026
28SGK31.01487064
29WNK11.00973588
30PHKG20.95459286
31PHKG10.95459286
32LATS10.94596684
33MYLK0.93428812
34PRKCZ0.92330608
35CAMKK10.91279610
36FES0.89294398
37PRKD30.86530732
38RPS6KA40.85929267
39ERBB20.81564941
40EPHA30.79369864
41MAP2K70.79301074
42CAMK2D0.79261791
43PRKCB0.77492917
44ICK0.74986687
45MAP2K40.70883382
46TTK0.68178229
47NEK10.67337332
48PRKAA20.66242710
49CDK50.66084438
50PRKAA10.66012522
51MAP3K70.63970230
52RPS6KA30.63004131
53GRK50.61905762
54DYRK1A0.60187363
55PLK20.59968279
56NTRK30.59832942
57CAMK10.58452377
58CDK30.55997447
59SGK10.55957552
60PRKACG0.55923706
61MINK10.50978355
62AKT20.46602277
63CDK90.46383096
64GSK3B0.46052943
65PDK10.44682337
66CAMK40.43502686
67MAPK100.43001863
68PRKD20.42693922
69ALK0.42531719
70PRKDC0.42346821
71FRK0.40828341
72STK110.39286534
73MAPK140.39218304
74MAPK90.38523834
75RPS6KB10.36344898
76PRKACA0.33913285
77PRKCG0.31905678
78PKN10.31120302
79CDK10.30883922
80PRKCA0.29935202
81DYRK1B0.29298281
82MAP3K90.29203419
83CAMK2A0.28775326
84SIK10.28033334
85JAK10.27426753
86NEK20.25202667
87CHEK20.24340146
88CSNK1G20.24338412
89MAPK30.24235593
90CSNK1E0.23844328
91MAPK80.23237775
92PRKG10.22057186
93RET0.21883503
94PLK30.20737963
95FGFR30.20236274
96CDC42BPA0.19937886
97FER0.19541152
98PRKD10.18818783
99SRC0.17664037
100FYN0.16345578

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa0474415.6781097
2Synaptic vesicle cycle_Homo sapiens_hsa047211.58097317
3Olfactory transduction_Homo sapiens_hsa047401.49444267
4GABAergic synapse_Homo sapiens_hsa047271.28196336
5Caffeine metabolism_Homo sapiens_hsa002320.99952062
6Circadian rhythm_Homo sapiens_hsa047100.95675498
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.91622591
8Cholinergic synapse_Homo sapiens_hsa047250.90042791
9Morphine addiction_Homo sapiens_hsa050320.89163389
10Glutamatergic synapse_Homo sapiens_hsa047240.86440262
11Circadian entrainment_Homo sapiens_hsa047130.85416289
12Dopaminergic synapse_Homo sapiens_hsa047280.81522582
13Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78159048
14Retinol metabolism_Homo sapiens_hsa008300.73247439
15Insulin secretion_Homo sapiens_hsa049110.71437873
16Serotonergic synapse_Homo sapiens_hsa047260.71203566
17Nicotine addiction_Homo sapiens_hsa050330.70779763
18ABC transporters_Homo sapiens_hsa020100.67826747
19Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.67811498
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.67115317
21Nitrogen metabolism_Homo sapiens_hsa009100.65861173
22Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.61330959
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.61087956
24Oxytocin signaling pathway_Homo sapiens_hsa049210.57514833
25cGMP-PKG signaling pathway_Homo sapiens_hsa040220.57120326
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.54217612
27Salivary secretion_Homo sapiens_hsa049700.51389073
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.51148411
29Aldosterone synthesis and secretion_Homo sapiens_hsa049250.50399683
30Gastric acid secretion_Homo sapiens_hsa049710.49391597
31Dilated cardiomyopathy_Homo sapiens_hsa054140.45884217
32Long-term potentiation_Homo sapiens_hsa047200.45853726
33Purine metabolism_Homo sapiens_hsa002300.44024294
34Phosphatidylinositol signaling system_Homo sapiens_hsa040700.43488857
35Cardiac muscle contraction_Homo sapiens_hsa042600.42548495
36Renin secretion_Homo sapiens_hsa049240.42049771
37cAMP signaling pathway_Homo sapiens_hsa040240.38866037
38Arginine biosynthesis_Homo sapiens_hsa002200.37849916
39Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37193965
40Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36985122
41Amphetamine addiction_Homo sapiens_hsa050310.35741056
42Cocaine addiction_Homo sapiens_hsa050300.35528893
43Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35519505
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35209472
45mTOR signaling pathway_Homo sapiens_hsa041500.34728471
46Glycerolipid metabolism_Homo sapiens_hsa005610.33318883
47Calcium signaling pathway_Homo sapiens_hsa040200.32645071
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.32577939
49Lysine degradation_Homo sapiens_hsa003100.26998535
50Glucagon signaling pathway_Homo sapiens_hsa049220.25354034
51Inositol phosphate metabolism_Homo sapiens_hsa005620.24869712
52Glycerophospholipid metabolism_Homo sapiens_hsa005640.24459791
53GnRH signaling pathway_Homo sapiens_hsa049120.22345580
54Fructose and mannose metabolism_Homo sapiens_hsa000510.22271806
55Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.21679131
56Type II diabetes mellitus_Homo sapiens_hsa049300.20792731
57Glioma_Homo sapiens_hsa052140.20060470
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.19888630
59Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.19550752
60Fatty acid elongation_Homo sapiens_hsa000620.19505903
61Pancreatic secretion_Homo sapiens_hsa049720.19148600
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.18356427
63Bile secretion_Homo sapiens_hsa049760.18317834
64Vibrio cholerae infection_Homo sapiens_hsa051100.18287681
65HIF-1 signaling pathway_Homo sapiens_hsa040660.18235323
66Thyroid hormone synthesis_Homo sapiens_hsa049180.18130550
67Central carbon metabolism in cancer_Homo sapiens_hsa052300.17935971
68MAPK signaling pathway_Homo sapiens_hsa040100.17864019
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.16489101
70Longevity regulating pathway - mammal_Homo sapiens_hsa042110.16389065
71Collecting duct acid secretion_Homo sapiens_hsa049660.15914886
72AMPK signaling pathway_Homo sapiens_hsa041520.13533229
73Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.13492368
74Long-term depression_Homo sapiens_hsa047300.13237192
75Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.13224365
76Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.12165637
77Chemokine signaling pathway_Homo sapiens_hsa040620.12145161
78ErbB signaling pathway_Homo sapiens_hsa040120.11833961
79Gap junction_Homo sapiens_hsa045400.11795702
80Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.11200642
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.11088728
82Choline metabolism in cancer_Homo sapiens_hsa052310.10781609
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.10736268
84Ras signaling pathway_Homo sapiens_hsa040140.10669943
85Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.10648861
86Tight junction_Homo sapiens_hsa045300.10638166
87Insulin resistance_Homo sapiens_hsa049310.10334132
88Alcoholism_Homo sapiens_hsa050340.10306399
89Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.10296869
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.09347433
91Adipocytokine signaling pathway_Homo sapiens_hsa049200.09263714
92Wnt signaling pathway_Homo sapiens_hsa043100.08887860
93Mineral absorption_Homo sapiens_hsa049780.08414524
94Melanogenesis_Homo sapiens_hsa049160.07965247
95Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.07714351
96Non-small cell lung cancer_Homo sapiens_hsa052230.06007548
97VEGF signaling pathway_Homo sapiens_hsa043700.05305494
98Taste transduction_Homo sapiens_hsa047420.04791764
99Biosynthesis of amino acids_Homo sapiens_hsa012300.04784011
100Endocytosis_Homo sapiens_hsa041440.04181576

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