RGS9BP

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 functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1retinal rod cell development (GO:0046548)9.92581967
2* detection of light stimulus (GO:0009583)9.87445768
3GMP metabolic process (GO:0046037)9.72649685
4* detection of light stimulus involved in visual perception (GO:0050908)9.54750345
5* detection of light stimulus involved in sensory perception (GO:0050962)9.54750345
6sarcoplasmic reticulum calcium ion transport (GO:0070296)9.21929201
7positive regulation of guanylate cyclase activity (GO:0031284)9.09409185
8visual perception (GO:0007601)8.86537127
9sensory perception of light stimulus (GO:0050953)8.76928094
10actin-mediated cell contraction (GO:0070252)8.49536378
11skeletal muscle contraction (GO:0003009)8.31694380
12regulation of guanylate cyclase activity (GO:0031282)8.18255519
13regulation of skeletal muscle contraction (GO:0014819)7.83307009
14* cellular response to light stimulus (GO:0071482)7.34788412
15* detection of external stimulus (GO:0009581)6.89285106
16* detection of abiotic stimulus (GO:0009582)6.77130042
17eye photoreceptor cell differentiation (GO:0001754)6.62434026
18photoreceptor cell differentiation (GO:0046530)6.62434026
19sarcomere organization (GO:0045214)6.47688612
20retina development in camera-type eye (GO:0060041)6.46493343
21regulation of relaxation of muscle (GO:1901077)6.38788789
22myofibril assembly (GO:0030239)6.36086151
23striated muscle contraction (GO:0006941)6.31526017
24response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.22020605
25actin filament-based movement (GO:0030048)6.20400187
26creatine metabolic process (GO:0006600)6.19290244
27regulation of inhibitory postsynaptic membrane potential (GO:0060080)5.95656363
28regulation of cGMP metabolic process (GO:0030823)5.93534355
29response to muscle activity (GO:0014850)5.88002444
30positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.60863962
31skeletal muscle adaptation (GO:0043501)5.52447615
32positive regulation of cGMP biosynthetic process (GO:0030828)5.50354915
33regulation of cGMP biosynthetic process (GO:0030826)5.14597357
34response to inactivity (GO:0014854)5.10375917
35NADH metabolic process (GO:0006734)5.03865819
36cardiac myofibril assembly (GO:0055003)5.03266830
37regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.00565367
38skeletal muscle fiber development (GO:0048741)5.00265849
39glycogen catabolic process (GO:0005980)4.96232450
40nonmotile primary cilium assembly (GO:0035058)4.94894797
41adaptation of signaling pathway (GO:0023058)4.92914700
42cardiac muscle contraction (GO:0060048)4.87402777
43positive regulation of cGMP metabolic process (GO:0030825)4.86400435
44detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.86206265
45* cellular response to radiation (GO:0071478)4.80532974
46actomyosin structure organization (GO:0031032)4.73147124
47muscle contraction (GO:0006936)4.72916152
48negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.68060140
49receptor guanylyl cyclase signaling pathway (GO:0007168)4.67373067
50estrogen biosynthetic process (GO:0006703)4.61334068
51glucan catabolic process (GO:0009251)4.58785529
52cell morphogenesis involved in neuron differentiation (GO:0048667)4.54050415
53negative regulation of potassium ion transmembrane transport (GO:1901380)4.49043916
54plasma membrane repair (GO:0001778)4.48750000
55glycogen biosynthetic process (GO:0005978)4.46120725
56glucan biosynthetic process (GO:0009250)4.46120725
57cardiac muscle hypertrophy (GO:0003300)4.45762186
58myotube cell development (GO:0014904)4.42549738
59cellular polysaccharide catabolic process (GO:0044247)4.34104821
60striated muscle hypertrophy (GO:0014897)4.33035459
61muscle system process (GO:0003012)4.24084858
62striated muscle adaptation (GO:0014888)4.20503757
63retina layer formation (GO:0010842)4.19710516
64sensory perception (GO:0007600)4.19631182
65positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.17659390
66* regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)4.15849431
67myoblast fusion (GO:0007520)4.12457593
68regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.03942705
69regulation of clathrin-mediated endocytosis (GO:2000369)4.03315119
70carnitine shuttle (GO:0006853)3.98014730
71regulation of actin filament-based movement (GO:1903115)3.97835049
72muscle fiber development (GO:0048747)3.91256720
73polysaccharide catabolic process (GO:0000272)3.90263454
74regulation of cell communication by electrical coupling (GO:0010649)3.89470198
75regulation of voltage-gated calcium channel activity (GO:1901385)3.87787978
76negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.84241289
77gluconeogenesis (GO:0006094)3.83972649
78* response to light stimulus (GO:0009416)3.83732653
79muscle hypertrophy (GO:0014896)3.83411372
80regulation of short-term neuronal synaptic plasticity (GO:0048172)3.77039166
81positive regulation of myotube differentiation (GO:0010831)3.76822919
822-oxoglutarate metabolic process (GO:0006103)3.75080095
83glycogen metabolic process (GO:0005977)3.74655254
84muscle cell fate commitment (GO:0042693)3.71744512
85skeletal muscle tissue development (GO:0007519)3.71738151
86muscle organ morphogenesis (GO:0048644)3.70745738
87syncytium formation by plasma membrane fusion (GO:0000768)3.66887731
88cellular glucan metabolic process (GO:0006073)3.64823349
89glucan metabolic process (GO:0044042)3.64823349
90muscle cell cellular homeostasis (GO:0046716)3.62836045
91neuron development (GO:0048666)3.55325307
92positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.54549943
93tricarboxylic acid cycle (GO:0006099)3.53645568
94muscle tissue morphogenesis (GO:0060415)3.52241572
95striated muscle atrophy (GO:0014891)3.50268508
96muscle adaptation (GO:0043500)3.49870578
97hexose biosynthetic process (GO:0019319)3.48253170
98protein localization to synapse (GO:0035418)3.45712929
99protein prenylation (GO:0018342)3.44799789
100prenylation (GO:0097354)3.44799789
101positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.42860709
102positive regulation of neurotransmitter transport (GO:0051590)3.40630550
103cardiac muscle cell development (GO:0055013)3.38998850
104membrane hyperpolarization (GO:0060081)3.38907479
105muscle organ development (GO:0007517)3.38187410
106skeletal muscle tissue regeneration (GO:0043403)3.37556809
107adult heart development (GO:0007512)3.36653431
108synaptic vesicle docking involved in exocytosis (GO:0016081)3.36368580
109behavioral response to ethanol (GO:0048149)3.36297689
110muscle structure development (GO:0061061)3.35840453
111CDP-diacylglycerol biosynthetic process (GO:0016024)3.34575506
112cardiac muscle hypertrophy in response to stress (GO:0014898)3.33980258
113muscle hypertrophy in response to stress (GO:0003299)3.33980258
114cardiac muscle adaptation (GO:0014887)3.33980258
115cardiac muscle tissue morphogenesis (GO:0055008)3.28789094
116positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.28367552
117carnitine transmembrane transport (GO:1902603)3.27287579
118positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.23468744
119fructose metabolic process (GO:0006000)3.21955394
120biotin metabolic process (GO:0006768)3.20127782
121monosaccharide biosynthetic process (GO:0046364)3.15879954
122retinoid metabolic process (GO:0001523)3.15546479
123striated muscle cell development (GO:0055002)3.14991497
124negative regulation of cell size (GO:0045792)3.14752560
125regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.13821720
126cardiac cell development (GO:0055006)3.13325120
127lipid translocation (GO:0034204)3.09897634
128phospholipid translocation (GO:0045332)3.09897634
129response to histamine (GO:0034776)3.09625239
130peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.07585273
131regulation of the force of heart contraction (GO:0002026)3.07248436
132regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.05717676
133regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.05717676
134regulation of penile erection (GO:0060405)3.05281487
135fatty acid transmembrane transport (GO:1902001)3.05210523
136muscle atrophy (GO:0014889)3.05024277
137retina homeostasis (GO:0001895)3.03620026
138regulation of striated muscle contraction (GO:0006942)3.01912967
139short-term memory (GO:0007614)3.01858972
140positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.98454014
141CDP-diacylglycerol metabolic process (GO:0046341)2.98155078
142IMP metabolic process (GO:0046040)2.97867502
143positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.96306492
144negative regulation of receptor-mediated endocytosis (GO:0048261)2.94955038
145carnitine transport (GO:0015879)2.93983689
146amino-acid betaine transport (GO:0015838)2.93983689
147post-embryonic morphogenesis (GO:0009886)2.92872995
148positive regulation of cation channel activity (GO:2001259)2.92101615
149regulation of calcium ion transmembrane transporter activity (GO:1901019)2.91218372
150regulation of calcium ion transmembrane transport (GO:1903169)2.91218372
151diterpenoid metabolic process (GO:0016101)2.90999987
152positive regulation of sodium ion transmembrane transport (GO:1902307)2.90617341
153oxaloacetate metabolic process (GO:0006107)2.90087409
154myotube differentiation (GO:0014902)2.89661690
155axoneme assembly (GO:0035082)2.86995774
156response to activity (GO:0014823)2.86101639
157detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.85648484
158regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.85214790
159regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.84988189
160positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)2.84664134
161syncytium formation (GO:0006949)2.84493004
162ubiquinone biosynthetic process (GO:0006744)2.83945607
163regulation of myoblast differentiation (GO:0045661)2.83332668
164regulation of sequestering of triglyceride (GO:0010889)2.83124127
165chemosensory behavior (GO:0007635)2.83037483
166response to pheromone (GO:0019236)2.72716365
167detection of chemical stimulus involved in sensory perception (GO:0050907)2.70158727
168synaptic vesicle maturation (GO:0016188)2.69982157
169* response to radiation (GO:0009314)2.66363839
170terpenoid metabolic process (GO:0006721)2.64865299
171positive regulation of ERBB signaling pathway (GO:1901186)2.64261643
172establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.63319168
173mitochondrion transport along microtubule (GO:0047497)2.63319168
174negative regulation of transcription regulatory region DNA binding (GO:2000678)2.60324994
175startle response (GO:0001964)2.59285810
176righting reflex (GO:0060013)2.56331464
177cellular potassium ion homeostasis (GO:0030007)2.53844196
178dopamine receptor signaling pathway (GO:0007212)2.49242736
179negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.48367450
180retinol metabolic process (GO:0042572)2.40044102
181histone H3-K4 trimethylation (GO:0080182)2.39827909
182negative regulation of cation channel activity (GO:2001258)2.39196355
183* cellular response to abiotic stimulus (GO:0071214)2.39141610
184protein heterotetramerization (GO:0051290)2.38455012
185establishment of mitochondrion localization (GO:0051654)2.35818079
186regulation of synaptic vesicle exocytosis (GO:2000300)2.35686545
187behavioral response to cocaine (GO:0048148)2.33362206
188icosanoid secretion (GO:0032309)2.33190332
189* regulation of rhodopsin mediated signaling pathway (GO:0022400)17.7863830
190* rhodopsin mediated signaling pathway (GO:0016056)17.5549183
191retinal cone cell development (GO:0046549)15.3861578
192photoreceptor cell maintenance (GO:0045494)12.2754864
193photoreceptor cell development (GO:0042461)11.9582806
194eye photoreceptor cell development (GO:0042462)11.3999024
195protein-chromophore linkage (GO:0018298)10.8154241
196* phototransduction, visible light (GO:0007603)10.4775924
197muscle filament sliding (GO:0030049)10.4516325
198actin-myosin filament sliding (GO:0033275)10.4516325
199* phototransduction (GO:0007602)10.3857966
200* detection of visible light (GO:0009584)10.0556488

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.84162758
2GBX2_23144817_ChIP-Seq_PC3_Human3.82279710
3CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse3.78770086
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.70613473
5ZNF263_19887448_ChIP-Seq_K562_Human3.30030546
6TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse3.16517051
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.97750698
8TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.85821797
9BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.73688120
10CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.70197785
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.47031624
12SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.43948581
13TBX20_22080862_ChIP-Seq_HEART_Mouse2.37954385
14TBX20_22328084_ChIP-Seq_HEART_Mouse2.37954385
15ESR2_21235772_ChIP-Seq_MCF-7_Human2.31947377
16DROSHA_22980978_ChIP-Seq_HELA_Human2.30606416
17ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.30576174
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.25943202
19VDR_22108803_ChIP-Seq_LS180_Human2.23478327
20RACK7_27058665_Chip-Seq_MCF-7_Human2.20919448
21RARG_19884340_ChIP-ChIP_MEFs_Mouse2.18404874
22LXR_22292898_ChIP-Seq_THP-1_Human2.15855279
23AR_21572438_ChIP-Seq_LNCaP_Human2.15645818
24IGF1R_20145208_ChIP-Seq_DFB_Human2.11435481
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.10422425
26ESR1_20079471_ChIP-ChIP_T-47D_Human2.05415964
27VDR_21846776_ChIP-Seq_THP-1_Human1.96234466
28DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.96011094
29TCF7_22412390_ChIP-Seq_EML_Mouse1.92134991
30SMAD3_21741376_ChIP-Seq_HESCs_Human1.88263539
31POU3F2_20337985_ChIP-ChIP_501MEL_Human1.87204043
32NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.81944768
33P53_22127205_ChIP-Seq_FIBROBLAST_Human1.80323972
34GATA4_21415370_ChIP-Seq_HL-1_Mouse1.79099430
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.78434381
36GATA1_19941826_ChIP-Seq_K562_Human1.78140042
37KDM2B_26808549_Chip-Seq_DND41_Human1.76292452
38CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.75017958
39THAP11_20581084_ChIP-Seq_MESCs_Mouse1.75007102
40TCF4_18268006_ChIP-ChIP_LS174T_Human1.71693263
41SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.70780157
42SMAD4_21799915_ChIP-Seq_A2780_Human1.69350356
43REST_21632747_ChIP-Seq_MESCs_Mouse1.67970143
44MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.67768290
45SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.67153226
46ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.65525332
47ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.63409525
48CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62964747
49* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.62864062
50* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.61275037
51* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.58779902
52CTCF_27219007_Chip-Seq_ERYTHROID_Human1.58436939
53TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57783166
54EZH2_27294783_Chip-Seq_ESCs_Mouse1.57460270
55GATA1_19941827_ChIP-Seq_MEL_Mouse1.56552115
56* AR_19668381_ChIP-Seq_PC3_Human1.54175896
57SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.54079251
58MYC_22102868_ChIP-Seq_BL_Human1.53656505
59BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.52834873
60TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.52481956
61TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.52358999
62P68_20966046_ChIP-Seq_HELA_Human1.52055099
63REST_18959480_ChIP-ChIP_MESCs_Mouse1.50096233
64STAT3_23295773_ChIP-Seq_U87_Human1.49824902
65RARB_27405468_Chip-Seq_BRAIN_Mouse1.48271011
66NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.48124232
67CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.47919771
68RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.46920330
69SUZ12_27294783_Chip-Seq_ESCs_Mouse1.45615308
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.44442136
71CTCF_27219007_Chip-Seq_Bcells_Human1.44339786
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.43957084
73EZH2_22144423_ChIP-Seq_EOC_Human1.43654121
74P300_19829295_ChIP-Seq_ESCs_Human1.43265127
75MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.43244865
76TBL1_22424771_ChIP-Seq_293T_Human1.42267368
77MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.41969716
78* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.41895098
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.41186210
80FOXM1_23109430_ChIP-Seq_U2OS_Human1.40842814
81HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.40794199
82STAT3_1855785_ChIP-Seq_MESCs_Mouse1.40625931
83CREB1_26743006_Chip-Seq_LNCaP_Human1.40206482
84CTCF_21964334_ChIP-Seq_BJAB-B_Human1.39262925
85SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.38565907
86STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.38294881
87SA1_27219007_Chip-Seq_ERYTHROID_Human1.37852930
88* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.36708022
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.36518539
90IKZF1_21737484_ChIP-ChIP_HCT116_Human1.36117656
91CLOCK_20551151_ChIP-Seq_293T_Human1.35923368
92ELK3_25401928_ChIP-Seq_HUVEC_Human1.34956767
93P300_27058665_Chip-Seq_ZR-75-30cells_Human1.34571982
94SMC4_20622854_ChIP-Seq_HELA_Human1.33713034
95ATF3_27146783_Chip-Seq_COLON_Human1.31720481
96TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31372166
97EP300_21415370_ChIP-Seq_HL-1_Mouse1.31256859
98EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.30385264
99SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29793710
100TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29690485
101CTCF_21964334_Chip-Seq_Bcells_Human1.28921148
102TET1_21451524_ChIP-Seq_MESCs_Mouse1.28636186
103JARID2_20075857_ChIP-Seq_MESCs_Mouse1.27607694
104NANOG_18555785_Chip-Seq_ESCs_Mouse1.27393560
105NFIB_24661679_ChIP-Seq_LUNG_Mouse1.26822689
106ERG_21242973_ChIP-ChIP_JURKAT_Human1.25707178
107EZH2_27304074_Chip-Seq_ESCs_Mouse1.24434521
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24074346
109STAT6_21828071_ChIP-Seq_BEAS2B_Human1.23955559
110ER_23166858_ChIP-Seq_MCF-7_Human1.22438292
111EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.22388766
112TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22369177
113PRDM14_20953172_ChIP-Seq_ESCs_Human1.22214539
114TCF4_23295773_ChIP-Seq_U87_Human1.22002574
115KDM2B_26808549_Chip-Seq_K562_Human1.21962877
116BCAT_22108803_ChIP-Seq_LS180_Human1.21886286
117TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.21231448
118WDR5_24793694_ChIP-Seq_LNCAP_Human1.21118302
119ZFX_18555785_ChIP-Seq_MESCs_Mouse1.20837788
120ISL1_27105846_Chip-Seq_CPCs_Mouse1.20429277
121CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.20029028
122RNF2_27304074_Chip-Seq_ESCs_Mouse1.19342529
123LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19233306
124KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.19032264
125YAP1_20516196_ChIP-Seq_MESCs_Mouse1.18523181
126SMAD_19615063_ChIP-ChIP_OVARY_Human1.17893971
127JARID2_20064375_ChIP-Seq_MESCs_Mouse1.16094869
128GATA2_19941826_ChIP-Seq_K562_Human1.15817944
129ELF1_20517297_ChIP-Seq_JURKAT_Human1.15108840
130E2F7_22180533_ChIP-Seq_HELA_Human1.13719640
131* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.12317868
132* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.12317868
133CHD1_26751641_Chip-Seq_LNCaP_Human1.11967567
134NCOR1_26117541_ChIP-Seq_K562_Human1.11247530
135CDX2_19796622_ChIP-Seq_MESCs_Mouse1.10843039
136ZFP281_18757296_ChIP-ChIP_E14_Mouse1.10567285
137CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09707407
138MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.09380526
139TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.09201011
140CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.08874762
141RUNX1_27514584_Chip-Seq_MCF-7_Human1.08242079
142RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07916769
143SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07882714
144NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.07854371
145GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06899535
146LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06611075
147CTBP1_25329375_ChIP-Seq_LNCAP_Human1.05659416
148SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05594635
149PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05469946
150KLF4_18555785_ChIP-Seq_MESCs_Mouse1.05033130
151TP53_20018659_ChIP-ChIP_R1E_Mouse1.04955949
152SMAD4_21741376_ChIP-Seq_HESCs_Human1.04624177
153E2F1_18555785_Chip-Seq_ESCs_Mouse1.04387979
154RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04326329
155KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.03913823
156OCT1_27270436_Chip-Seq_PROSTATE_Human1.03863939
157EGR1_19032775_ChIP-ChIP_M12_Human1.02437889
158GF1_26923725_Chip-Seq_HPCs_Mouse1.01843961
159PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.01341718
160CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00698000
161ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00539515
162CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.00058543
163RUNX_20019798_ChIP-Seq_JUKART_Human1.00048827
164POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99975428
165TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99975428
166YY1_22570637_ChIP-Seq_MALME-3M_Human0.99916944
167SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99595618
168GATA1_22025678_ChIP-Seq_K562_Human0.99562292
169NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.99502606
170SPI1_20517297_ChIP-Seq_HL60_Human0.99396434
171UBF1/2_26484160_Chip-Seq_HMECs_Human0.98771011
172SALL1_21062744_ChIP-ChIP_HESCs_Human0.98068412
173DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.97153591
174GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96923861
175SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96815754
176SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96539666
177PIAS1_25552417_ChIP-Seq_VCAP_Human0.96357823
178SA1_27219007_Chip-Seq_Bcells_Human0.96136036
179SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95823251
180CBP_21632823_ChIP-Seq_H3396_Human0.95730102
181CMYC_18555785_Chip-Seq_ESCs_Mouse0.95605444
182* SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.94886305
183PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94481679
184SMAD3_21741376_ChIP-Seq_EPCs_Human0.93169573
185GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.92352653
186SUZ12_18555785_Chip-Seq_ESCs_Mouse0.92028925
187FUS_26573619_Chip-Seq_HEK293_Human0.91450699
188RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91224948
189AHR_22903824_ChIP-Seq_MCF-7_Human0.89518758
190SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.89224628
191MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.89188160
192NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.88873515
193TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88666752
194ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88002080

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005551_abnormal_eye_electrophysiolog9.72326109
2* MP0005253_abnormal_eye_physiology6.47313572
3MP0006072_abnormal_retinal_apoptosis6.32866305
4MP0000751_myopathy5.26519549
5MP0005451_abnormal_body_composition4.38551731
6MP0003950_abnormal_plasma_membrane4.05033883
7MP0004036_abnormal_muscle_relaxation3.93059697
8MP0005195_abnormal_posterior_eye3.85056299
9MP0001324_abnormal_eye_pigmentation3.62311278
10MP0000747_muscle_weakness3.35324792
11MP0002090_abnormal_vision3.29819283
12MP0004087_abnormal_muscle_fiber3.24503706
13MP0000759_abnormal_skeletal_muscle3.22501136
14MP0002106_abnormal_muscle_physiology3.15303902
15* MP0005391_vision/eye_phenotype3.13236891
16MP0004084_abnormal_cardiac_muscle2.91043416
17MP0002269_muscular_atrophy2.86905551
18MP0004130_abnormal_muscle_cell2.82751563
19MP0000750_abnormal_muscle_regeneration2.74842526
20MP0002638_abnormal_pupillary_reflex2.70126254
21MP0005423_abnormal_somatic_nervous2.69708755
22MP0002229_neurodegeneration2.66299421
23MP0005369_muscle_phenotype2.64603413
24MP0000733_abnormal_muscle_development2.13282636
25MP0003011_delayed_dark_adaptation11.1977939
26MP0001764_abnormal_homeostasis1.99294829
27MP0002752_abnormal_somatic_nervous1.93992605
28MP0001986_abnormal_taste_sensitivity1.90912245
29MP0004185_abnormal_adipocyte_glucose1.89191126
30MP0002972_abnormal_cardiac_muscle1.87234854
31MP0010630_abnormal_cardiac_muscle1.76235941
32MP0003656_abnormal_erythrocyte_physiolo1.74563461
33MP0006036_abnormal_mitochondrial_physio1.73082518
34MP0002837_dystrophic_cardiac_calcinosis1.66164310
35MP0002822_catalepsy1.54046743
36MP0004484_altered_response_of1.49405069
37MP0004019_abnormal_vitamin_homeostasis1.47638965
38MP0002653_abnormal_ependyma_morphology1.46125397
39MP0001348_abnormal_lacrimal_gland1.44462829
40MP0005666_abnormal_adipose_tissue1.40961227
41MP0010030_abnormal_orbit_morphology1.40949536
42MP0002882_abnormal_neuron_morphology1.39698582
43MP0006138_congestive_heart_failure1.38648734
44MP0004233_abnormal_muscle_weight1.37706915
45MP0006292_abnormal_olfactory_placode1.27543701
46MP0005083_abnormal_biliary_tract1.24977677
47MP0005375_adipose_tissue_phenotype1.23300339
48MP0000013_abnormal_adipose_tissue1.21463581
49MP0004147_increased_porphyrin_level1.18590319
50MP0001502_abnormal_circadian_rhythm1.18204867
51MP0003221_abnormal_cardiomyocyte_apopto1.17320879
52MP0001544_abnormal_cardiovascular_syste1.16103545
53MP0005385_cardiovascular_system_phenoty1.16103545
54MP0000003_abnormal_adipose_tissue1.15547104
55MP0004510_myositis1.15131949
56MP0005266_abnormal_metabolism1.10635686
57MP0005670_abnormal_white_adipose1.10551062
58MP0001984_abnormal_olfaction1.10386879
59MP0001486_abnormal_startle_reflex1.08495935
60MP0002971_abnormal_brown_adipose1.07311220
61MP0008775_abnormal_heart_ventricle1.03787892
62MP0004885_abnormal_endolymph0.98101983
63MP0004270_analgesia0.96561923
64MP0005197_abnormal_uvea_morphology0.93021689
65MP0003705_abnormal_hypodermis_morpholog0.92179395
66MP0002332_abnormal_exercise_endurance0.79007348
67MP0003880_abnormal_central_pattern0.78556391
68MP0005394_taste/olfaction_phenotype0.75815713
69MP0005499_abnormal_olfactory_system0.75815713
70MP0003137_abnormal_impulse_conducting0.74252809
71MP0003878_abnormal_ear_physiology0.74120658
72MP0005377_hearing/vestibular/ear_phenot0.74120658
73MP0002127_abnormal_cardiovascular_syste0.74098690
74MP0002272_abnormal_nervous_system0.70163638
75MP0003634_abnormal_glial_cell0.69487852
76MP0000266_abnormal_heart_morphology0.67991496
77MP0005058_abnormal_lysosome_morphology0.66412581
78MP0009046_muscle_twitch0.63548867
79MP0001286_abnormal_eye_development0.63329538
80MP0002249_abnormal_larynx_morphology0.62209979
81MP0002064_seizures0.60877834
82MP0009672_abnormal_birth_weight0.59582891
83MP0002734_abnormal_mechanical_nocicepti0.59559127
84MP0000465_gastrointestinal_hemorrhage0.59517950
85MP0001963_abnormal_hearing_physiology0.59286943
86MP0002877_abnormal_melanocyte_morpholog0.58343882
87MP0004134_abnormal_chest_morphology0.57899238
88MP0008004_abnormal_stomach_pH0.57695267
89MP0008789_abnormal_olfactory_epithelium0.57477614
90MP0003635_abnormal_synaptic_transmissio0.56594363
91MP0004859_abnormal_synaptic_plasticity0.54414264
92MP0000372_irregular_coat_pigmentation0.54179578
93MP0001346_abnormal_lacrimal_gland0.53324304
94MP0004858_abnormal_nervous_system0.53223362
95MP0003828_pulmonary_edema0.52387735
96MP0005187_abnormal_penis_morphology0.51512586
97MP0000534_abnormal_ureter_morphology0.50744229
98MP0003959_abnormal_lean_body0.50538266
99MP0005410_abnormal_fertilization0.49960195
100MP0002067_abnormal_sensory_capabilities0.48606841
101MP0001968_abnormal_touch/_nociception0.48580632
102MP0002114_abnormal_axial_skeleton0.48506046
103MP0002572_abnormal_emotion/affect_behav0.48229905
104MP0005334_abnormal_fat_pad0.47038633
105MP0002063_abnormal_learning/memory/cond0.46243445
106MP0000762_abnormal_tongue_morphology0.45107914
107MP0005386_behavior/neurological_phenoty0.43850400
108MP0004924_abnormal_behavior0.43850400
109MP0004215_abnormal_myocardial_fiber0.43099699
110MP0002078_abnormal_glucose_homeostasis0.42413661
111MP0002128_abnormal_blood_circulation0.42018599
112MP0002896_abnormal_bone_mineralization0.41861648
113MP0008260_abnormal_autophagy0.41725123
114MP0004742_abnormal_vestibular_system0.41257781
115MP0003045_fibrosis0.41184221
116MP0000631_abnormal_neuroendocrine_gland0.40892620
117MP0000467_abnormal_esophagus_morphology0.40888976
118MP0009745_abnormal_behavioral_response0.40698137
119MP0004808_abnormal_hematopoietic_stem0.40642078
120MP0005376_homeostasis/metabolism_phenot0.39167361
121MP0001299_abnormal_eye_distance/0.38925464
122MP0003890_abnormal_embryonic-extraembry0.37557139
123MP0002102_abnormal_ear_morphology0.37268782
124MP0005452_abnormal_adipose_tissue0.36955933
125MP0009250_abnormal_appendicular_skeleto0.36815383
126MP0005646_abnormal_pituitary_gland0.35625166
127MP0005167_abnormal_blood-brain_barrier0.34805440
128MP0010386_abnormal_urinary_bladder0.34695711
129MP0004197_abnormal_fetal_growth/weight/0.32882689
130MP0001188_hyperpigmentation0.32794812
131MP0006035_abnormal_mitochondrial_morpho0.32576986
132MP0005248_abnormal_Harderian_gland0.32517138
133MP0003948_abnormal_gas_homeostasis0.30709309
134MP0005171_absent_coat_pigmentation0.30667243
135MP0005584_abnormal_enzyme/coenzyme_acti0.30538737
136MP0000026_abnormal_inner_ear0.30037390
137MP0003566_abnormal_cell_adhesion0.30015948
138MP0004085_abnormal_heartbeat0.29721859
139MP0002697_abnormal_eye_size0.29650568
140MP0008569_lethality_at_weaning0.29111788
141MP0009703_decreased_birth_body0.29002334
142MP0002009_preneoplasia0.27915389
143MP0008874_decreased_physiological_sensi0.27758276
144MP0004782_abnormal_surfactant_physiolog0.26698114
145MP0004142_abnormal_muscle_tone0.25960150
146MP0005535_abnormal_body_temperature0.25584502
147MP0002152_abnormal_brain_morphology0.25260266
148MP0005620_abnormal_muscle_contractility0.25182798
149MP0003943_abnormal_hepatobiliary_system0.25166038
150MP0002184_abnormal_innervation0.25103059
151MP0002928_abnormal_bile_duct0.24517805
152MP0009780_abnormal_chondrocyte_physiolo0.24324544
153MP0002066_abnormal_motor_capabilities/c0.22846935
154MP0001915_intracranial_hemorrhage0.22630317
155MP0003646_muscle_fatigue0.22535060
156MP0000778_abnormal_nervous_system0.21427789
157MP0010368_abnormal_lymphatic_system0.19660969
158MP0004145_abnormal_muscle_electrophysio0.18554659
159MP0004811_abnormal_neuron_physiology0.17749981
160MP0002557_abnormal_social/conspecific_i0.17299460
161MP0004043_abnormal_pH_regulation0.16117827
162MP0005193_abnormal_anterior_eye0.15513692
163MP0001879_abnormal_lymphatic_vessel0.15377905
164MP0005595_abnormal_vascular_smooth0.14545491
165MP0000749_muscle_degeneration0.14502849
166MP0005330_cardiomyopathy0.14362755
167MP0002108_abnormal_muscle_morphology0.13995266
168MP0001293_anophthalmia0.13533248
169MP0000569_abnormal_digit_pigmentation0.13296898
170MP0001661_extended_life_span0.11473025
171MP0003252_abnormal_bile_duct0.11227390
172MP0001970_abnormal_pain_threshold0.10917319
173MP0003632_abnormal_nervous_system0.10897675
174MP0002909_abnormal_adrenal_gland0.10793645
175MP0003879_abnormal_hair_cell0.10241717
176MP0005076_abnormal_cell_differentiation0.09984319
177MP0010770_preweaning_lethality0.09273100
178MP0002082_postnatal_lethality0.09273100

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)9.97907404
2Absent rod-and cone-mediated responses on ERG (HP:0007688)9.90464227
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.77848920
4Abnormal rod and cone electroretinograms (HP:0008323)9.52006107
5Central scotoma (HP:0000603)9.17727364
6Dyschromatopsia (HP:0007641)9.04033388
7Abnormality of macular pigmentation (HP:0008002)8.47214525
8Pigmentary retinal degeneration (HP:0001146)8.41253978
9Scotoma (HP:0000575)8.16784658
10Chorioretinal atrophy (HP:0000533)8.09220398
11Exercise-induced myalgia (HP:0003738)8.04019320
12Attenuation of retinal blood vessels (HP:0007843)7.67285386
13Pendular nystagmus (HP:0012043)7.54575864
14Type 1 muscle fiber predominance (HP:0003803)7.40229871
15Exercise-induced muscle cramps (HP:0003710)6.87913574
16Abolished electroretinogram (ERG) (HP:0000550)6.53083801
17Decreased central vision (HP:0007663)6.33407724
18Muscle hypertrophy of the lower extremities (HP:0008968)6.04642651
19Myopathic facies (HP:0002058)5.59368778
20Calf muscle hypertrophy (HP:0008981)5.56377504
21Type II diabetes mellitus (HP:0005978)5.55436070
22* Photophobia (HP:0000613)5.54892431
23Distal arthrogryposis (HP:0005684)5.13339388
24EMG: myopathic abnormalities (HP:0003458)5.05536318
25Cone-rod dystrophy (HP:0000548)5.01732533
26Macular degeneration (HP:0000608)4.97790333
27Hyporeflexia of lower limbs (HP:0002600)4.96196998
28Posterior subcapsular cataract (HP:0007787)4.95240607
29Severe visual impairment (HP:0001141)4.94478323
30Rhabdomyolysis (HP:0003201)4.85366083
31Myoglobinuria (HP:0002913)4.81771909
32Increased corneal curvature (HP:0100692)4.75247143
33Keratoconus (HP:0000563)4.75247143
34Choroideremia (HP:0001139)4.70180897
35Vitreoretinal degeneration (HP:0000655)4.64428879
36Constricted visual fields (HP:0001133)4.52097760
37Abnormality of the calf musculature (HP:0001430)4.42432736
38Centrally nucleated skeletal muscle fibers (HP:0003687)4.41865865
39Muscle fiber splitting (HP:0003555)4.39482895
40Retinitis pigmentosa (HP:0000510)4.36928331
41Round ear (HP:0100830)4.32880572
42Neck muscle weakness (HP:0000467)4.22903392
43Ulnar deviation of the wrist (HP:0003049)4.18486127
44Rimmed vacuoles (HP:0003805)4.06448768
45Asymmetric septal hypertrophy (HP:0001670)4.06402858
46Subaortic stenosis (HP:0001682)4.06227378
47Abnormality of the left ventricular outflow tract (HP:0011103)4.06227378
48Distal lower limb muscle weakness (HP:0009053)4.03005929
49Abnormality of skeletal muscle fiber size (HP:0012084)4.01405555
50Difficulty running (HP:0009046)3.96015822
51Increased connective tissue (HP:0009025)3.86248496
52Decreased electroretinogram (ERG) amplitude (HP:0000654)3.65922178
53Calcaneovalgus deformity (HP:0001848)3.64517417
54Muscle stiffness (HP:0003552)3.51257694
55Increased variability in muscle fiber diameter (HP:0003557)3.43132813
56Sudden death (HP:0001699)3.29682466
57Areflexia of lower limbs (HP:0002522)3.29435435
58Progressive visual loss (HP:0000529)3.28291298
59Retinal atrophy (HP:0001105)3.27316816
60Absent phalangeal crease (HP:0006109)3.14451116
61Bundle branch block (HP:0011710)3.13911465
62Deformed tarsal bones (HP:0008119)3.13616892
63Congenital sensorineural hearing impairment (HP:0008527)3.13089995
64Subcapsular cataract (HP:0000523)3.10121057
65Frequent falls (HP:0002359)3.07702867
66Progressive muscle weakness (HP:0003323)2.95212848
67EMG: neuropathic changes (HP:0003445)2.93836088
68Distal lower limb amyotrophy (HP:0008944)2.86516402
69Ventricular tachycardia (HP:0004756)2.73912395
70Myotonia (HP:0002486)2.67349679
71Malignant hyperthermia (HP:0002047)2.63476636
72Mildly elevated creatine phosphokinase (HP:0008180)2.62198218
73Bulbar palsy (HP:0001283)2.59933174
74Hyperkalemia (HP:0002153)2.59628370
75Generalized muscle weakness (HP:0003324)2.59064930
76Optic disc pallor (HP:0000543)2.56878597
77Dilated cardiomyopathy (HP:0001644)2.56102843
78Abnormal finger flexion creases (HP:0006143)2.53437703
79Abnormality of the calcaneus (HP:0008364)2.49789883
80Wide nasal bridge (HP:0000431)2.48588718
81Lipoatrophy (HP:0100578)2.41769172
82Difficulty climbing stairs (HP:0003551)2.41052966
83Scapular winging (HP:0003691)2.35848110
84Abnormality of the foot musculature (HP:0001436)2.30168473
85Foot dorsiflexor weakness (HP:0009027)2.27910831
86Spinal rigidity (HP:0003306)2.27878364
87Gait imbalance (HP:0002141)2.24024031
88Congenital primary aphakia (HP:0007707)2.22454112
89Ragged-red muscle fibers (HP:0003200)2.16922035
90Paralysis (HP:0003470)2.12775050
91Lower limb amyotrophy (HP:0007210)2.11985474
92Limb-girdle muscle atrophy (HP:0003797)2.07576784
93Diaphragmatic weakness (HP:0009113)2.07343640
94Nephrogenic diabetes insipidus (HP:0009806)2.00641759
95Congenital stationary night blindness (HP:0007642)14.5453127
96Bony spicule pigmentary retinopathy (HP:0007737)12.0030446
97Muscle fiber inclusion bodies (HP:0100299)10.1550659
98Slender build (HP:0001533)1.98918006
99Muscular dystrophy (HP:0003560)1.96292881
100Fetal akinesia sequence (HP:0001989)1.95679685
101Medial flaring of the eyebrow (HP:0010747)1.93796047
102Achilles tendon contracture (HP:0001771)1.89940693
103Gowers sign (HP:0003391)1.89588212
104Reticulocytosis (HP:0001923)1.88796096
105Weak cry (HP:0001612)1.86288572
106Waddling gait (HP:0002515)1.85547090
107Fatigable weakness (HP:0003473)1.85287999
108Abnormality of the neuromuscular junction (HP:0003398)1.85287999
109Abnormality of the tricuspid valve (HP:0001702)1.85248303
110Abnormal atrioventricular conduction (HP:0005150)1.84666219
111Heart block (HP:0012722)1.84422135
112Abnormality of the shoulder girdle musculature (HP:0001435)1.79023678
113Proximal amyotrophy (HP:0007126)1.78115638
114Horizontal nystagmus (HP:0000666)1.75797842
115Poor coordination (HP:0002370)1.72738636
116Pelvic girdle muscle weakness (HP:0003749)1.69221988
117Shoulder girdle muscle weakness (HP:0003547)1.67982465
118Polar cataract (HP:0010696)1.67564517
119Cholelithiasis (HP:0001081)1.64573176
120Hip contracture (HP:0003273)1.64469072
121Abnormality of the Achilles tendon (HP:0005109)1.62791874
122Exercise intolerance (HP:0003546)1.62358242
123Steppage gait (HP:0003376)1.59849735
124Optic atrophy (HP:0000648)1.59790406
125Long clavicles (HP:0000890)1.58950406
126Epileptic encephalopathy (HP:0200134)1.57274068
127Limb-girdle muscle weakness (HP:0003325)1.57094291
128Insulin-resistant diabetes mellitus (HP:0000831)1.56916193
129Abnormality of the musculature of the pelvis (HP:0001469)1.56629632
130Abnormality of the hip-girdle musculature (HP:0001445)1.56629632
131Metatarsus adductus (HP:0001840)1.55647907
132Febrile seizures (HP:0002373)1.53425800
133Vaginal atresia (HP:0000148)1.53408480
134Ventricular arrhythmia (HP:0004308)1.53022868
135Hyperthyroidism (HP:0000836)1.51868590
136True hermaphroditism (HP:0010459)1.48594950
137Increased intramyocellular lipid droplets (HP:0012240)1.48320056
138Genital tract atresia (HP:0001827)1.47548594
139Pancreatic fibrosis (HP:0100732)1.46894788
140Bowel incontinence (HP:0002607)1.45299626
141Dysmetric saccades (HP:0000641)1.45222926
142Stridor (HP:0010307)1.43355967
143Respiratory insufficiency due to muscle weakness (HP:0002747)1.42419325
144Increased muscle lipid content (HP:0009058)1.39741998
145Abnormal large intestine physiology (HP:0012700)1.38849526
146Hyperuricemia (HP:0002149)1.38608421
147Increased purine levels (HP:0004368)1.38608421
148Severe Myopia (HP:0011003)1.37117886
149Aplasia/Hypoplasia of the lens (HP:0008063)1.31592316
150Interstitial pulmonary disease (HP:0006530)1.30440906
151Astigmatism (HP:0000483)1.27527356
152Dysdiadochokinesis (HP:0002075)1.27344545
153Retinal detachment (HP:0000541)1.26219265
154Hypoplasia of the fovea (HP:0007750)1.25421425
155Aplasia/Hypoplasia of the fovea (HP:0008060)1.25421425
156Abnormality of the fovea (HP:0000493)1.25411673
157Pancreatic cysts (HP:0001737)1.20268361
158Cystic liver disease (HP:0006706)1.15159426
159Truncal ataxia (HP:0002078)1.09466211
160Progressive cerebellar ataxia (HP:0002073)1.08690581
161Chorioretinal coloboma (HP:0000567)1.07047732
162Genetic anticipation (HP:0003743)1.04303362
163Aplasia/Hypoplasia of the tongue (HP:0010295)1.02271265
164Chronic hepatic failure (HP:0100626)0.95277363
165Abnormality of the fingertips (HP:0001211)0.93068120
166Recurrent sinusitis (HP:0011108)0.92551864
167Abnormality of dental color (HP:0011073)0.92440946
168Aplasia/Hypoplasia of the macula (HP:0008059)0.91333275
169Prolonged QT interval (HP:0001657)0.91094711
170Broad foot (HP:0001769)0.90689757
171Specific learning disability (HP:0001328)0.90495754
172Sclerocornea (HP:0000647)0.89759666
173Hypermetropia (HP:0000540)0.89096048
174Left ventricular hypertrophy (HP:0001712)0.88653098
175Molar tooth sign on MRI (HP:0002419)0.87340779
176Abnormality of midbrain morphology (HP:0002418)0.87340779
177Broad-based gait (HP:0002136)0.82839542
178Decreased testicular size (HP:0008734)0.82778441
179Aplasia/Hypoplasia affecting the retina (HP:0008061)0.82753063
180Visual hallucinations (HP:0002367)0.82522959
181Asthma (HP:0002099)0.81067671
182Furrowed tongue (HP:0000221)0.79129656
183Cerebellar dysplasia (HP:0007033)0.78981615
184Anencephaly (HP:0002323)0.76079910
185Lymphopenia (HP:0001888)0.74491669
186Abnormal EKG (HP:0003115)0.73734106
187Gaze-evoked nystagmus (HP:0000640)0.73608717
188Corneal dystrophy (HP:0001131)0.72021265
189Postaxial hand polydactyly (HP:0001162)0.72001794
190Nephronophthisis (HP:0000090)0.71254743
191Macroorchidism (HP:0000053)0.70676979
192Congenital hepatic fibrosis (HP:0002612)0.69771875
193Short foot (HP:0001773)0.68052171
194Hyperventilation (HP:0002883)0.67665088
195Abnormality of cells of the lymphoid lineage (HP:0012140)0.67301779
196Postaxial foot polydactyly (HP:0001830)0.66469482
197Absent speech (HP:0001344)0.65803908
198Syncope (HP:0001279)0.65358380
199Dental crowding (HP:0000678)0.63297630
200Partial agenesis of the corpus callosum (HP:0001338)0.63258332

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.37112545
2TTN5.89538265
3PBK4.88545657
4TRIB33.09573146
5PINK12.97947158
6MAP2K32.35466649
7SIK22.21384505
8EEF2K2.21225904
9PIK3CG2.02814299
10CDK122.02021542
11IRAK22.01481405
12GRK111.5491901
13CAMK1G1.85475132
14BRD41.76801289
15CAMK1D1.71593912
16MAPK71.62716664
17INSRR1.60212314
18MUSK1.53757079
19MAPK121.49695989
20ADRBK11.49604978
21AKT31.48207168
22MAPKAPK31.46103498
23TAOK31.43549010
24SGK21.34282562
25MAP3K41.31830999
26HIPK21.28663854
27STK381.28098457
28MAP3K101.24816465
29SGK2231.13022003
30SGK4941.13022003
31CSNK1D1.12358780
32MARK11.11563480
33IRAK31.10927264
34DMPK1.10315906
35SCYL21.09211973
36SGK31.07393294
37PAK61.06628684
38TRPM71.02637001
39MAP2K70.99748017
40TAOK20.96896755
41MAP3K110.96701020
42TTK0.95763337
43LATS10.94313406
44CDK30.90631226
45PRKCH0.89725688
46WNK10.89385705
47ERBB20.88337092
48MOS0.85141096
49CAMK2G0.85077542
50PNCK0.84137885
51SIK30.83684665
52RPS6KB20.81170384
53SMG10.78380585
54EIF2AK10.78334606
55RPS6KA40.77902196
56NME10.77351445
57PRKCZ0.74471199
58PRKCB0.73610493
59PRKAA20.73585962
60DYRK1A0.73245297
61PRKAA10.73209529
62PKN20.72757728
63PRPF4B0.72455063
64LATS20.72125330
65MTOR0.71011120
66CAMKK10.69897108
67CAMK10.69299678
68FES0.68936421
69CASK0.67362846
70PRKD30.67329729
71CDK90.66846685
72CAMK2D0.66416373
73NME20.64448195
74MAPK110.64377957
75RPS6KC10.63428595
76RPS6KL10.63428595
77ARAF0.60817356
78CAMK40.60405112
79PLK20.59382150
80MAP2K10.58780759
81SGK10.57472121
82RPS6KA30.56482721
83MAP2K60.56253655
84GRK50.56243886
85PDPK10.55146757
86GSK3B0.54501657
87ICK0.54076259
88YES10.53390625
89SIK10.52680685
90MAP2K20.52402565
91CHEK20.51919276
92PRKACG0.51409887
93TESK10.51245883
94LIMK10.51024680
95NEK90.50307573
96PRKD20.50231597
97MAPK140.49806141
98PRKDC0.49639813
99KSR20.49572920
100AKT20.49103906
101PLK40.48944681
102NEK10.48684020
103PKN10.47834843
104NEK20.47610656
105MAP3K70.47609160
106RPS6KA60.47476158
107BRAF0.47420696
108MYLK0.47387988
109MARK20.47313574
110CDK80.46669758
111ATR0.46640996
112MAP3K10.45874998
113RPS6KA20.45434361
114TAOK10.44588607
115MAPK100.44308339
116NUAK10.44085777
117DYRK1B0.43964538
118MAP3K30.43853594
119CDK10.43025088
120CDK50.42625599
121MST1R0.42470825
122MAPK40.42278646
123RPS6KA10.42164068
124MAP2K40.42155654
125EPHA20.41274207
126TNIK0.40921705
127NEK60.40309092
128PLK30.39553921
129MKNK20.38253332
130CAMK2B0.37890255
131MAPK90.37377928
132ATM0.35792465
133PDK20.35223688
134MAPK130.34442430
135RPS6KB10.34135915
136FRK0.33867217
137CCNB10.33864754
138TNK20.32677585
139PRKACA0.31968544
140CDK70.31726224
141STK110.31717267
142LRRK20.30796881
143TBK10.29996428
144NTRK30.29939996
145MAPK80.29207970
146CHEK10.28203073
147PHKG10.28180403
148PHKG20.28180403
149MAP3K80.27554403
150ILK0.27252868
151MAP3K60.26504284
152MINK10.26158929
153PRKCA0.25566530
154PRKCG0.25191436
155CSNK1E0.23880419
156ERBB30.23814095
157ROCK10.23593544
158TESK20.23473850
159ERN10.22679182
160PRKG10.21754306
161RIPK10.19884647
162PDK10.19535305
163CAMK2A0.17425649

Predicted pathways (KEGG)

RankGene SetZ-score
12-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.65233306
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.38148923
3Pentose phosphate pathway_Homo sapiens_hsa000302.45520085
4Carbon metabolism_Homo sapiens_hsa012002.41672484
5Insulin signaling pathway_Homo sapiens_hsa049102.11210647
6Phototransduction_Homo sapiens_hsa0474415.8904714
7Biosynthesis of amino acids_Homo sapiens_hsa012301.88535371
8Arginine and proline metabolism_Homo sapiens_hsa003301.78218050
9Insulin resistance_Homo sapiens_hsa049311.69605866
10Synaptic vesicle cycle_Homo sapiens_hsa047211.61765891
11Adipocytokine signaling pathway_Homo sapiens_hsa049201.59666566
12Pyruvate metabolism_Homo sapiens_hsa006201.56014022
13Olfactory transduction_Homo sapiens_hsa047401.46018874
14Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.39057527
15Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.36123212
16Propanoate metabolism_Homo sapiens_hsa006401.29063502
17GABAergic synapse_Homo sapiens_hsa047271.23416748
18Fatty acid biosynthesis_Homo sapiens_hsa000611.15510045
19Phenylalanine metabolism_Homo sapiens_hsa003601.09673082
20Circadian rhythm_Homo sapiens_hsa047100.99495677
21Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.97951282
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.97447545
23Fatty acid metabolism_Homo sapiens_hsa012120.94696692
24Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.93474927
25Alzheimers disease_Homo sapiens_hsa050100.92327495
26Morphine addiction_Homo sapiens_hsa050320.90383793
27Cholinergic synapse_Homo sapiens_hsa047250.89768600
28Non-small cell lung cancer_Homo sapiens_hsa052230.88220056
29Glutamatergic synapse_Homo sapiens_hsa047240.83931941
30Circadian entrainment_Homo sapiens_hsa047130.82945630
31Sulfur relay system_Homo sapiens_hsa041220.82682002
32Retinol metabolism_Homo sapiens_hsa008300.80491564
33Parkinsons disease_Homo sapiens_hsa050120.79169172
34Fatty acid degradation_Homo sapiens_hsa000710.79094331
35Nicotine addiction_Homo sapiens_hsa050330.76436157
36VEGF signaling pathway_Homo sapiens_hsa043700.76270432
37ABC transporters_Homo sapiens_hsa020100.73237320
38Dopaminergic synapse_Homo sapiens_hsa047280.72553639
39Focal adhesion_Homo sapiens_hsa045100.70340838
40Serotonergic synapse_Homo sapiens_hsa047260.67759137
41Insulin secretion_Homo sapiens_hsa049110.64097041
42Endometrial cancer_Homo sapiens_hsa052130.63939722
43FoxO signaling pathway_Homo sapiens_hsa040680.63046758
44Thyroid cancer_Homo sapiens_hsa052160.62859021
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.61137002
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.57692130
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.56444458
48Bladder cancer_Homo sapiens_hsa052190.56206616
49Huntingtons disease_Homo sapiens_hsa050160.55196623
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.53387541
51Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.53185752
52Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.51546352
53Acute myeloid leukemia_Homo sapiens_hsa052210.51523560
54Oxytocin signaling pathway_Homo sapiens_hsa049210.51352369
55Chronic myeloid leukemia_Homo sapiens_hsa052200.51096921
56Platelet activation_Homo sapiens_hsa046110.50965846
57Small cell lung cancer_Homo sapiens_hsa052220.50868408
58Renal cell carcinoma_Homo sapiens_hsa052110.48763017
59ECM-receptor interaction_Homo sapiens_hsa045120.48660789
60Nitrogen metabolism_Homo sapiens_hsa009100.47635891
61Purine metabolism_Homo sapiens_hsa002300.47280858
62Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.46805460
63Starch and sucrose metabolism_Homo sapiens_hsa005000.46778444
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.46774657
65Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.45332068
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.42561190
67Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41151879
68Nucleotide excision repair_Homo sapiens_hsa034200.41045660
69cAMP signaling pathway_Homo sapiens_hsa040240.39606477
70Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.39562775
71Salivary secretion_Homo sapiens_hsa049700.39394358
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.38987542
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38904600
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38814262
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.38632334
76Renin secretion_Homo sapiens_hsa049240.37283892
77Adherens junction_Homo sapiens_hsa045200.36961803
78Dilated cardiomyopathy_Homo sapiens_hsa054140.36727834
79Oxidative phosphorylation_Homo sapiens_hsa001900.36028852
80Lysine degradation_Homo sapiens_hsa003100.35587855
81Inositol phosphate metabolism_Homo sapiens_hsa005620.35117648
82Pancreatic cancer_Homo sapiens_hsa052120.34671156
83Regulation of autophagy_Homo sapiens_hsa041400.34490225
84Fructose and mannose metabolism_Homo sapiens_hsa000510.33922812
85Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.32694627
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32430246
87Cocaine addiction_Homo sapiens_hsa050300.32285973
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.31702516
89Caffeine metabolism_Homo sapiens_hsa002320.31491405
90Cardiac muscle contraction_Homo sapiens_hsa042600.31277336
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31219205
92Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30510651
93Long-term potentiation_Homo sapiens_hsa047200.28498471
94mTOR signaling pathway_Homo sapiens_hsa041500.28310916
95Notch signaling pathway_Homo sapiens_hsa043300.27741675
96Gastric acid secretion_Homo sapiens_hsa049710.27658567
97Cysteine and methionine metabolism_Homo sapiens_hsa002700.27327763
98beta-Alanine metabolism_Homo sapiens_hsa004100.26623783
99Prolactin signaling pathway_Homo sapiens_hsa049170.25968576
100Tyrosine metabolism_Homo sapiens_hsa003500.25955595
101Other glycan degradation_Homo sapiens_hsa005110.25489473
102Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25247881
103Glycerophospholipid metabolism_Homo sapiens_hsa005640.24159917
104Glycerolipid metabolism_Homo sapiens_hsa005610.23971846
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23937107
106SNARE interactions in vesicular transport_Homo sapiens_hsa041300.23883097
107Calcium signaling pathway_Homo sapiens_hsa040200.23034110
108Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.21726549
109Amphetamine addiction_Homo sapiens_hsa050310.21073593
110Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.20153461
111Chemokine signaling pathway_Homo sapiens_hsa040620.19942694
112Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.19785033
113Type II diabetes mellitus_Homo sapiens_hsa049300.19549216
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.17897342
115Central carbon metabolism in cancer_Homo sapiens_hsa052300.17584554
116Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.17565679
117Fatty acid elongation_Homo sapiens_hsa000620.17125931
118MAPK signaling pathway_Homo sapiens_hsa040100.17069298
119Glucagon signaling pathway_Homo sapiens_hsa049220.16481249
120HIF-1 signaling pathway_Homo sapiens_hsa040660.16305544
121Alcoholism_Homo sapiens_hsa050340.15439096
122Vascular smooth muscle contraction_Homo sapiens_hsa042700.15057430
123Ras signaling pathway_Homo sapiens_hsa040140.14281319
124Wnt signaling pathway_Homo sapiens_hsa043100.13457852
125Arginine biosynthesis_Homo sapiens_hsa002200.13404838
126mRNA surveillance pathway_Homo sapiens_hsa030150.13403741
127GnRH signaling pathway_Homo sapiens_hsa049120.13158690
128Mineral absorption_Homo sapiens_hsa049780.12373176
129AMPK signaling pathway_Homo sapiens_hsa041520.12044086
130Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.11720551
131Pancreatic secretion_Homo sapiens_hsa049720.11633185
132Drug metabolism - other enzymes_Homo sapiens_hsa009830.10369693
133RNA degradation_Homo sapiens_hsa030180.09789573
134Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.09575539
135ErbB signaling pathway_Homo sapiens_hsa040120.08903567
136Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.08738132
137Taste transduction_Homo sapiens_hsa047420.07670012
138Choline metabolism in cancer_Homo sapiens_hsa052310.07654444
139Phospholipase D signaling pathway_Homo sapiens_hsa040720.07508799
140Tight junction_Homo sapiens_hsa045300.07310574
141Thyroid hormone synthesis_Homo sapiens_hsa049180.06976978
142Glioma_Homo sapiens_hsa052140.06893395
143Hippo signaling pathway_Homo sapiens_hsa043900.06101402
144Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.05971787
145Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.05696570
146Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.05085906
147Collecting duct acid secretion_Homo sapiens_hsa049660.04914268
148Long-term depression_Homo sapiens_hsa047300.04786133
149Galactose metabolism_Homo sapiens_hsa000520.04571712
150Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.04161752
151Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.03844097
152Bile secretion_Homo sapiens_hsa049760.03473049
153Melanogenesis_Homo sapiens_hsa049160.03252035
154Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.02945967
155Ovarian steroidogenesis_Homo sapiens_hsa049130.02775236

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