OTOG

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 component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of somitogenesis (GO:0014807)9.62945516
2acrosome reaction (GO:0007340)9.59105105
3sperm motility (GO:0030317)9.04579001
4mechanoreceptor differentiation (GO:0042490)8.99886305
5fusion of sperm to egg plasma membrane (GO:0007342)8.14978120
6endocardial cushion morphogenesis (GO:0003203)8.13622081
7response to pheromone (GO:0019236)6.68099856
8mesenchyme morphogenesis (GO:0072132)6.55410881
9microtubule depolymerization (GO:0007019)6.51840373
10plasma membrane fusion (GO:0045026)6.46244671
11multicellular organism reproduction (GO:0032504)6.23875319
12* sensory perception of sound (GO:0007605)6.09284861
13* sensory perception of mechanical stimulus (GO:0050954)6.00092990
14establishment of protein localization to Golgi (GO:0072600)5.96944474
15sperm-egg recognition (GO:0035036)5.95818246
16calcium ion-dependent exocytosis (GO:0017156)5.90094383
17* pentose metabolic process (GO:0019321)5.87385779
18spermatid development (GO:0007286)5.83783732
19protein polyglutamylation (GO:0018095)5.80517100
20aorta morphogenesis (GO:0035909)5.80335784
21microtubule polymerization or depolymerization (GO:0031109)5.80269135
22protein targeting to Golgi (GO:0000042)5.72950535
23DNA packaging (GO:0006323)5.66133800
24sperm capacitation (GO:0048240)5.63351919
25chromosome condensation (GO:0030261)5.63015293
26Notch signaling involved in heart development (GO:0061314)5.60491965
27positive regulation of Notch signaling pathway (GO:0045747)5.53813801
28reproduction (GO:0000003)5.39531027
29vitamin catabolic process (GO:0009111)5.28560167
30fat-soluble vitamin catabolic process (GO:0042363)5.28560167
31inner ear morphogenesis (GO:0042472)5.27648301
32cilium or flagellum-dependent cell motility (GO:0001539)5.21241206
33retrograde transport, vesicle recycling within Golgi (GO:0000301)5.20759956
34microtubule severing (GO:0051013)5.19787669
35epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)5.16955763
36regulation of secondary heart field cardioblast proliferation (GO:0003266)5.07356265
37regulation of cardioblast proliferation (GO:0003264)5.07356265
38regulation of cilium movement (GO:0003352)5.05836515
39centriole replication (GO:0007099)5.03650378
40type B pancreatic cell proliferation (GO:0044342)5.01891023
41binding of sperm to zona pellucida (GO:0007339)4.91008808
42pathway-restricted SMAD protein phosphorylation (GO:0060389)4.89552073
43cellular ketone body metabolic process (GO:0046950)4.89143809
44single strand break repair (GO:0000012)4.87326878
45diterpenoid biosynthetic process (GO:0016102)4.86362073
46multicellular organismal movement (GO:0050879)4.85171231
47musculoskeletal movement (GO:0050881)4.85171231
48cell-cell recognition (GO:0009988)4.83173524
49spermatogenesis (GO:0007283)4.83077804
50male gamete generation (GO:0048232)4.81484255
51phosphatidylethanolamine biosynthetic process (GO:0006646)4.74444054
52heart valve morphogenesis (GO:0003179)4.71244310
53phosphatidylethanolamine metabolic process (GO:0046337)4.68397980
54axonemal dynein complex assembly (GO:0070286)4.54007788
55cell wall macromolecule metabolic process (GO:0044036)4.52729263
56protein localization to Golgi apparatus (GO:0034067)4.48400267
57regulation of skeletal muscle cell differentiation (GO:2001014)4.45538238
58piRNA metabolic process (GO:0034587)4.41402563
59gamete generation (GO:0007276)4.41174334
60lateral sprouting from an epithelium (GO:0060601)4.39847316
61rRNA methylation (GO:0031167)4.36489643
62righting reflex (GO:0060013)4.31475987
63synaptic vesicle exocytosis (GO:0016079)4.31303305
64bone trabecula formation (GO:0060346)4.30871961
65ketone body metabolic process (GO:1902224)4.28872488
66glycoprotein catabolic process (GO:0006516)4.26519636
67cellular sodium ion homeostasis (GO:0006883)4.24581920
68centriole assembly (GO:0098534)4.23949829
69neuronal stem cell maintenance (GO:0097150)4.19570157
70spermatid nucleus differentiation (GO:0007289)4.19305486
71regulation of centriole replication (GO:0046599)4.16779350
72single fertilization (GO:0007338)4.15567654
73seminiferous tubule development (GO:0072520)4.14615199
74DNA methylation involved in gamete generation (GO:0043046)4.11403828
75cranial nerve development (GO:0021545)4.10105908
76chromatin silencing (GO:0006342)3.94673643
77cardiac epithelial to mesenchymal transition (GO:0060317)3.94378672
78positive regulation of Rab GTPase activity (GO:0032851)3.93438038
79regulation of Rab GTPase activity (GO:0032313)3.93438038
80sexual reproduction (GO:0019953)3.93185103
81cardiac right ventricle morphogenesis (GO:0003215)3.90852394
82regulation of transcription involved in cell fate commitment (GO:0060850)3.90797598
83atrioventricular valve morphogenesis (GO:0003181)3.89452374
84detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.87517638
85cardiac ventricle morphogenesis (GO:0003208)3.81123544
86positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.81121975
87alanine transport (GO:0032328)3.75305327
88ventricular septum morphogenesis (GO:0060412)3.74847727
89rRNA modification (GO:0000154)3.73638458
90fertilization (GO:0009566)3.66252629
91motile cilium assembly (GO:0044458)3.65327600
92male meiosis (GO:0007140)3.63280250
93retinal ganglion cell axon guidance (GO:0031290)3.61803170
94regulation of chemokine-mediated signaling pathway (GO:0070099)3.60164356
95calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.58881267
96generation of neurons (GO:0048699)3.58877535
97axoneme assembly (GO:0035082)3.58661728
98heart valve formation (GO:0003188)3.56532421
99epithelial cilium movement (GO:0003351)3.55764694
100outer ear morphogenesis (GO:0042473)3.53572986
101regulation of microtubule-based movement (GO:0060632)3.51269801
102face development (GO:0060324)3.50909332
103planar cell polarity pathway involved in neural tube closure (GO:0090179)3.50060764
104cochlea development (GO:0090102)3.49786915
105cardiac muscle cell proliferation (GO:0060038)3.44393975
106spinal cord motor neuron differentiation (GO:0021522)3.43553380
107multicellular organismal reproductive process (GO:0048609)3.41234501
108negative regulation of leukocyte chemotaxis (GO:0002689)3.38399110
109regulation of Notch signaling pathway (GO:0008593)3.36769586
110reflex (GO:0060004)3.34427041
111regulation of transforming growth factor beta2 production (GO:0032909)3.33511926
112nephron tubule development (GO:0072080)3.33003263
113lung epithelium development (GO:0060428)3.32465776
114terpenoid biosynthetic process (GO:0016114)3.31249884
115microtubule nucleation (GO:0007020)3.30247958
116cardiac chamber morphogenesis (GO:0003206)3.28775165
117germ cell development (GO:0007281)3.28422547
118male meiosis I (GO:0007141)3.28385265
119negative regulation of Rho protein signal transduction (GO:0035024)3.27240758
120somatic stem cell division (GO:0048103)3.26998066
121nerve development (GO:0021675)3.26736119
122cilium movement (GO:0003341)3.26349172
123pharyngeal system development (GO:0060037)3.25884410
124negative regulation of smooth muscle cell migration (GO:0014912)3.25309067
125regulation of meiosis I (GO:0060631)3.24808089
126detection of mechanical stimulus (GO:0050982)3.23223283
127regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.23118537
128retinoic acid metabolic process (GO:0042573)3.18850887
129detection of light stimulus involved in visual perception (GO:0050908)3.13822017
130detection of light stimulus involved in sensory perception (GO:0050962)3.13822017
131locomotory exploration behavior (GO:0035641)3.13471146
132organic cation transport (GO:0015695)3.12811210
133positive regulation of skeletal muscle tissue development (GO:0048643)3.12472292
134regulation of heart morphogenesis (GO:2000826)3.12068405
135establishment of tissue polarity (GO:0007164)3.10201317
136establishment of planar polarity (GO:0001736)3.10201317
137antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.10099112
138ventricular trabecula myocardium morphogenesis (GO:0003222)3.05770962
139cellular process involved in reproduction in multicellular organism (GO:0022412)3.05752602
140negative regulation of inclusion body assembly (GO:0090084)3.04396448
141dorsal/ventral axis specification (GO:0009950)3.03328303
142protein localization to cell surface (GO:0034394)3.02322292
143membrane depolarization during action potential (GO:0086010)3.02073266
144metanephric mesenchyme development (GO:0072075)3.01615463
145positive regulation of guanylate cyclase activity (GO:0031284)3.01115009
146cellular response to pH (GO:0071467)3.01069998
147cardiac septum morphogenesis (GO:0060411)3.01026716
148glomerulus development (GO:0032835)2.99353125
149ectodermal placode formation (GO:0060788)2.99111254
150endocrine hormone secretion (GO:0060986)2.97116375
151positive regulation of action potential (GO:0045760)2.96226659
152cell surface receptor signaling pathway involved in heart development (GO:0061311)2.95530739
153mechanosensory behavior (GO:0007638)2.95455864
154NAD biosynthetic process (GO:0009435)2.94009042
155renal tubule development (GO:0061326)2.93970386
156non-canonical Wnt signaling pathway (GO:0035567)2.93700575
157inner ear development (GO:0048839)2.93168688
158nephron tubule morphogenesis (GO:0072078)2.91814508
159nephron epithelium morphogenesis (GO:0072088)2.91814508
160response to gravity (GO:0009629)2.91424932
161striated muscle cell proliferation (GO:0014855)2.89775198
162cell wall macromolecule catabolic process (GO:0016998)2.88729967
163auditory behavior (GO:0031223)2.87940684
164male sex determination (GO:0030238)2.87675036
165embryonic eye morphogenesis (GO:0048048)2.86162492
166RNA destabilization (GO:0050779)2.86122187
167digestive tract morphogenesis (GO:0048546)2.82809308
168regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.82595751
169lipopolysaccharide biosynthetic process (GO:0009103)2.80419855
170urinary tract smooth muscle contraction (GO:0014848)2.79592887
171behavioral response to nicotine (GO:0035095)2.79579720
172regulation of guanylate cyclase activity (GO:0031282)2.77946777
173galactose catabolic process (GO:0019388)2.76932759
174regulation of water loss via skin (GO:0033561)2.76836364
175neuroblast proliferation (GO:0007405)2.74899666
176glycerol ether metabolic process (GO:0006662)2.72776968
177kidney morphogenesis (GO:0060993)2.72094482
178epithelial cell fate commitment (GO:0072148)2.70309012
179negative regulation of gene expression, epigenetic (GO:0045814)2.66422891
180stem cell development (GO:0048864)2.66171777
181middle ear morphogenesis (GO:0042474)2.65510562
182Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.63959493
183neuromuscular synaptic transmission (GO:0007274)2.63952664
184protein localization to cilium (GO:0061512)2.63415841
185cilium assembly (GO:0042384)2.63351620
186gene silencing (GO:0016458)2.62780661
187protein K48-linked deubiquitination (GO:0071108)2.62680713
188cerebral cortex neuron differentiation (GO:0021895)2.62290748
189regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.62050946
190cilium organization (GO:0044782)2.61579259
191photoreceptor cell maintenance (GO:0045494)2.59152734
192protein depolymerization (GO:0051261)2.58464176
193Golgi to endosome transport (GO:0006895)2.57308660
194membrane protein intracellular domain proteolysis (GO:0031293)2.57144581
195limb development (GO:0060173)2.56703998
196auditory receptor cell differentiation (GO:0042491)16.6663548
197inner ear receptor cell differentiation (GO:0060113)11.1446344
198hair cell differentiation (GO:0035315)10.3844363

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.09889928
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.82433462
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.07176420
4EZH2_22144423_ChIP-Seq_EOC_Human3.30027224
5ZNF217_24962896_ChIP-Seq_MCF-7_Human2.48356329
6RNF2_18974828_ChIP-Seq_MESCs_Mouse2.45850951
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.45850951
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.43923958
9VDR_22108803_ChIP-Seq_LS180_Human2.40670278
10RNF2_27304074_Chip-Seq_ESCs_Mouse2.26077845
11MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.24637092
12EZH2_27294783_Chip-Seq_ESCs_Mouse2.24599615
13SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.23490503
14ERG_21242973_ChIP-ChIP_JURKAT_Human2.21952148
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.18375621
16IRF4_20064451_ChIP-Seq_CD4+T_Mouse2.17058338
17DROSHA_22980978_ChIP-Seq_HELA_Human2.16647539
18ZNF274_21170338_ChIP-Seq_K562_Hela2.11500587
19SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.06544112
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.04388395
21SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.04307466
22KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.04081607
23KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.04081607
24KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.04081607
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03215888
26JARID2_20075857_ChIP-Seq_MESCs_Mouse2.01644241
27EZH2_27304074_Chip-Seq_ESCs_Mouse1.94455261
28ARNT_22903824_ChIP-Seq_MCF-7_Human1.92620327
29ERA_21632823_ChIP-Seq_H3396_Human1.91990870
30AHR_22903824_ChIP-Seq_MCF-7_Human1.90700935
31SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.89326311
32POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.88757458
33TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.88757458
34ER_23166858_ChIP-Seq_MCF-7_Human1.82794430
35MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.77505906
36EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.77282043
37WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.72794420
38WDR5_24793694_ChIP-Seq_LNCAP_Human1.70087763
39UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.69951507
40PIAS1_25552417_ChIP-Seq_VCAP_Human1.68711300
41SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.68163883
42RING1B_27294783_Chip-Seq_ESCs_Mouse1.68123141
43CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.67886377
44RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.66592040
45ESR2_21235772_ChIP-Seq_MCF-7_Human1.65001080
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.64498421
47OCT4_20526341_ChIP-Seq_ESCs_Human1.63273500
48TP53_18474530_ChIP-ChIP_U2OS_Human1.62223667
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.61427540
50VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.61331395
51SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.61320305
52EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.60818121
53NANOG_20526341_ChIP-Seq_ESCs_Human1.60747328
54FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.60294631
55TAF2_19829295_ChIP-Seq_ESCs_Human1.59508943
56ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.58890756
57MTF2_20144788_ChIP-Seq_MESCs_Mouse1.57502548
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56571613
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.55140880
60PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.54219858
61MYC_19829295_ChIP-Seq_ESCs_Human1.53754319
62REST_21632747_ChIP-Seq_MESCs_Mouse1.53626898
63RAC3_21632823_ChIP-Seq_H3396_Human1.51625723
64EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.51205974
65STAT3_23295773_ChIP-Seq_U87_Human1.50040221
66VDR_24787735_ChIP-Seq_THP-1_Human1.49414113
67SMAD4_21741376_ChIP-Seq_EPCs_Human1.47848645
68ELF1_20517297_ChIP-Seq_JURKAT_Human1.45445618
69EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.45442424
70CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45066189
71RING1B_27294783_Chip-Seq_NPCs_Mouse1.44391508
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.43067650
73CTCF_27219007_Chip-Seq_Bcells_Human1.41663398
74GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41444071
75EP300_21415370_ChIP-Seq_HL-1_Mouse1.39377700
76E2F1_20622854_ChIP-Seq_HELA_Human1.39162511
77GATA3_21878914_ChIP-Seq_MCF-7_Human1.38814917
78RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38127636
79KLF5_20875108_ChIP-Seq_MESCs_Mouse1.37598217
80GBX2_23144817_ChIP-Seq_PC3_Human1.37473188
81P300_19829295_ChIP-Seq_ESCs_Human1.37275140
82AR_21572438_ChIP-Seq_LNCaP_Human1.37040850
83BCL6_27268052_Chip-Seq_Bcells_Human1.32577633
84AUTS2_25519132_ChIP-Seq_293T-REX_Human1.30392187
85TDRD3_21172665_ChIP-Seq_MCF-7_Human1.29212007
86ETV2_25802403_ChIP-Seq_MESCs_Mouse1.29195047
87RBPJ_21746931_ChIP-Seq_IB4_Human1.28888539
88VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.26970750
89CBX2_27304074_Chip-Seq_ESCs_Mouse1.26515239
90ETV1_20927104_ChIP-Seq_GIST48_Human1.26277943
91PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.24812699
92PHF8_20622854_ChIP-Seq_HELA_Human1.21927409
93CEBPB_22108803_ChIP-Seq_LS180_Human1.21529351
94CTCF_20526341_ChIP-Seq_ESCs_Human1.21236389
95RUNX2_22187159_ChIP-Seq_PCA_Human1.21235665
96TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.21099756
97NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20436330
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.20054881
99TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19947259
100TP53_20018659_ChIP-ChIP_R1E_Mouse1.19584159
101PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19571035
102AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19306533
103YY1_22570637_ChIP-Seq_MALME-3M_Human1.18998954
104CBX2_22325352_ChIP-Seq_293T-Rex_Human1.18799476
105SMAD3_21741376_ChIP-Seq_EPCs_Human1.18090107
106SOX2_19829295_ChIP-Seq_ESCs_Human1.17596802
107NANOG_19829295_ChIP-Seq_ESCs_Human1.17596802
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.16629243
109P300_27268052_Chip-Seq_Bcells_Human1.16163212
110CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15480980
111TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14989209
112HNFA_21074721_ChIP-Seq_CACO-2_Human1.13979412
113NCOR_22424771_ChIP-Seq_293T_Human1.13346921
114SMAD3_21741376_ChIP-Seq_ESCs_Human1.12856935
115NFYB_21822215_ChIP-Seq_K562_Human1.12755782
116SMC4_20622854_ChIP-Seq_HELA_Human1.12619710
117P53_21459846_ChIP-Seq_SAOS-2_Human1.11521690
118PHF8_20622853_ChIP-Seq_HELA_Human1.11052677
119LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10874096
120ESR1_20079471_ChIP-ChIP_T-47D_Human1.10133071
121STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.09304534
122TCF4_23295773_ChIP-Seq_U87_Human1.09219997
123SOX2_22085726_ChIP-Seq_NPCs_Mouse1.09061888
124* REST_18959480_ChIP-ChIP_MESCs_Mouse1.08252690
125EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.07552843
126CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.07133434
127FOXA1_27270436_Chip-Seq_PROSTATE_Human1.06946818
128FOXA1_25329375_ChIP-Seq_VCAP_Human1.06946818
129BCOR_27268052_Chip-Seq_Bcells_Human1.06908851
130SOX9_24532713_ChIP-Seq_HFSC_Mouse1.06045112
131GATA6_21074721_ChIP-Seq_CACO-2_Human1.05793224
132TBL1_22424771_ChIP-Seq_293T_Human1.05439274
133ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.04642539
134PRDM14_20953172_ChIP-Seq_ESCs_Human1.04615351
135KDM2B_26808549_Chip-Seq_K562_Human1.04011347
136P68_20966046_ChIP-Seq_HELA_Human1.03570100
137NFYA_21822215_ChIP-Seq_K562_Human1.03509516
138FOXH1_21741376_ChIP-Seq_EPCs_Human1.03488763
139BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03057172
140ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.02952019
141SMAD4_21741376_ChIP-Seq_HESCs_Human1.02845461
142SOX2_21211035_ChIP-Seq_LN229_Gbm1.02646957
143ISL1_27105846_Chip-Seq_CPCs_Mouse1.02300280
144ERG_20517297_ChIP-Seq_VCAP_Human1.01820864
145SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01695983
146CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01520039
147DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00096815
148OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00059001
149FOXO3_23340844_ChIP-Seq_DLD1_Human1.00028019
150EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.98871612
151NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97721175
152OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96948465
153PKCTHETA_26484144_Chip-Seq_BREAST_Human0.96700589
154RXR_22108803_ChIP-Seq_LS180_Human0.96665502
155PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95774552
156GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.95486878
157BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.95086185
158SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.93905625
159TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.93724510
160ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.91675229
161SMAD4_21799915_ChIP-Seq_A2780_Human0.91073016
162AR_25329375_ChIP-Seq_VCAP_Human0.90922654
163ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89869171
164YAP1_20516196_ChIP-Seq_MESCs_Mouse0.89093885
165CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.88288987
166DNAJC2_21179169_ChIP-ChIP_NT2_Human0.88185336
167* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.87844378
168SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86587702
169SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.85336067
170ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84563546
171KLF5_25053715_ChIP-Seq_YYC3_Human0.83861726
172FUS_26573619_Chip-Seq_HEK293_Human0.82900790
173ZFP281_18757296_ChIP-ChIP_E14_Mouse0.81560890
174CBP_20019798_ChIP-Seq_JUKART_Human0.81168564

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0001485_abnormal_pinna_reflex7.92086092
2MP0005410_abnormal_fertilization7.73793246
3* MP0000026_abnormal_inner_ear4.90913584
4* MP0001963_abnormal_hearing_physiology4.51188706
5* MP0003878_abnormal_ear_physiology4.04565253
6* MP0005377_hearing/vestibular/ear_phenot4.04565253
7MP0005670_abnormal_white_adipose3.84778658
8MP0003698_abnormal_male_reproductive3.22870286
9MP0002653_abnormal_ependyma_morphology2.93117565
10MP0005248_abnormal_Harderian_gland2.90760034
11MP0003646_muscle_fatigue2.86927794
12MP0001968_abnormal_touch/_nociception2.75270250
13MP0001929_abnormal_gametogenesis2.72870570
14MP0003941_abnormal_skin_development2.66369450
15MP0004742_abnormal_vestibular_system2.62618905
16* MP0001486_abnormal_startle_reflex2.59224985
17MP0008877_abnormal_DNA_methylation2.55320792
18MP0001348_abnormal_lacrimal_gland2.46769457
19MP0000566_synostosis2.39967614
20MP0005551_abnormal_eye_electrophysiolog2.39100049
21MP0001501_abnormal_sleep_pattern2.25834248
22MP0003938_abnormal_ear_development2.02891862
23MP0001984_abnormal_olfaction2.00397028
24MP0003879_abnormal_hair_cell11.6156301
25MP0002138_abnormal_hepatobiliary_system1.99594882
26MP0002736_abnormal_nociception_after1.99575398
27MP0002822_catalepsy1.96204359
28MP0002735_abnormal_chemical_nociception1.86245609
29MP0004885_abnormal_endolymph1.83727546
30MP0008995_early_reproductive_senescence1.82194731
31MP0000049_abnormal_middle_ear1.77272248
32MP0009046_muscle_twitch1.74670932
33MP0002733_abnormal_thermal_nociception1.72649419
34MP0002210_abnormal_sex_determination1.72268596
35MP0003718_maternal_effect1.70685885
36MP0009780_abnormal_chondrocyte_physiolo1.70047705
37* MP0002161_abnormal_fertility/fecundity1.68204816
38MP0005167_abnormal_blood-brain_barrier1.57289929
39MP0003195_calcinosis1.54173757
40MP0002249_abnormal_larynx_morphology1.49736159
41MP0001346_abnormal_lacrimal_gland1.46938281
42MP0001970_abnormal_pain_threshold1.46016119
43MP0005253_abnormal_eye_physiology1.45016484
44MP0003942_abnormal_urinary_system1.44392973
45MP0009745_abnormal_behavioral_response1.40000089
46MP0002734_abnormal_mechanical_nocicepti1.39815051
47MP0002557_abnormal_social/conspecific_i1.39226971
48MP0000534_abnormal_ureter_morphology1.35826958
49MP0002752_abnormal_somatic_nervous1.34708404
50MP0002932_abnormal_joint_morphology1.34313494
51MP0001145_abnormal_male_reproductive1.33608849
52MP0005423_abnormal_somatic_nervous1.33465365
53MP0002277_abnormal_respiratory_mucosa1.31783426
54MP0005379_endocrine/exocrine_gland_phen1.30379313
55MP0001765_abnormal_ion_homeostasis1.27484053
56MP0000653_abnormal_sex_gland1.27160426
57* MP0002067_abnormal_sensory_capabilities1.26420750
58MP0010678_abnormal_skin_adnexa1.26344783
59MP0000383_abnormal_hair_follicle1.26113366
60MP0004134_abnormal_chest_morphology1.24878293
61MP0001849_ear_inflammation1.23327360
62MP0002572_abnormal_emotion/affect_behav1.21751503
63MP0005508_abnormal_skeleton_morphology1.21414479
64MP0004142_abnormal_muscle_tone1.19498481
65MP0002102_abnormal_ear_morphology1.18902819
66MP0002089_abnormal_postnatal_growth/wei1.17022853
67MP0000762_abnormal_tongue_morphology1.16302803
68MP0005623_abnormal_meninges_morphology1.15863741
69MP0003045_fibrosis1.15750064
70MP0008872_abnormal_physiological_respon1.13143485
71MP0004264_abnormal_extraembryonic_tissu1.12983817
72MP0003635_abnormal_synaptic_transmissio1.11664278
73MP0003115_abnormal_respiratory_system1.11307235
74MP0003011_delayed_dark_adaptation1.10124097
75MP0010234_abnormal_vibrissa_follicle1.09590249
76MP0000613_abnormal_salivary_gland1.08354799
77MP0001905_abnormal_dopamine_level1.08090028
78MP0003786_premature_aging1.07876304
79MP0002184_abnormal_innervation1.03730886
80MP0000955_abnormal_spinal_cord1.02776344
81MP0001286_abnormal_eye_development1.02111123
82MP0001502_abnormal_circadian_rhythm1.00003655
83MP0010030_abnormal_orbit_morphology0.97297539
84MP0002234_abnormal_pharynx_morphology0.96338512
85MP0002064_seizures0.95833897
86MP0005395_other_phenotype0.95738304
87MP0003122_maternal_imprinting0.94498390
88MP0006276_abnormal_autonomic_nervous0.93524867
89MP0009384_cardiac_valve_regurgitation0.93295303
90MP0006292_abnormal_olfactory_placode0.90552381
91MP0002229_neurodegeneration0.90066312
92MP0006072_abnormal_retinal_apoptosis0.89888889
93MP0002063_abnormal_learning/memory/cond0.85363892
94MP0002116_abnormal_craniofacial_bone0.84450901
95MP0004085_abnormal_heartbeat0.83251036
96MP0002837_dystrophic_cardiac_calcinosis0.83133344
97MP0003183_abnormal_peptide_metabolism0.82806618
98MP0002282_abnormal_trachea_morphology0.81629636
99MP0004233_abnormal_muscle_weight0.81458531
100MP0002882_abnormal_neuron_morphology0.79542679
101MP0004272_abnormal_basement_membrane0.78488386
102MP0000428_abnormal_craniofacial_morphol0.78346404
103MP0005310_abnormal_salivary_gland0.78062092
104MP0005636_abnormal_mineral_homeostasis0.76358340
105MP0003136_yellow_coat_color0.76064888
106MP0009250_abnormal_appendicular_skeleto0.76046467
107MP0003137_abnormal_impulse_conducting0.76036814
108MP0002115_abnormal_skeleton_extremities0.75894176
109MP0000163_abnormal_cartilage_morphology0.75884555
110MP0005647_abnormal_sex_gland0.75871865
111MP0002233_abnormal_nose_morphology0.75232655
112MP0001299_abnormal_eye_distance/0.74456525
113MP0001529_abnormal_vocalization0.72397455
114MP0002272_abnormal_nervous_system0.71855470
115MP0001188_hyperpigmentation0.71605125
116MP0000631_abnormal_neuroendocrine_gland0.71100529
117MP0002009_preneoplasia0.69196967
118MP0009764_decreased_sensitivity_to0.68854827
119MP0001440_abnormal_grooming_behavior0.68758900
120MP0005645_abnormal_hypothalamus_physiol0.68635021
121MP0005646_abnormal_pituitary_gland0.68581203
122MP0009697_abnormal_copulation0.67969085
123MP0000778_abnormal_nervous_system0.67535247
124MP0002109_abnormal_limb_morphology0.66973361
125MP0003755_abnormal_palate_morphology0.66473916
126MP0000579_abnormal_nail_morphology0.65641114
127MP0002168_other_aberrant_phenotype0.65051944
128MP0005332_abnormal_amino_acid0.64893090
129MP0005671_abnormal_response_to0.64419280
130MP0005195_abnormal_posterior_eye0.64322825
131MP0002928_abnormal_bile_duct0.64148937
132MP0000372_irregular_coat_pigmentation0.60677226
133MP0004381_abnormal_hair_follicle0.60390009
134MP0002938_white_spotting0.59962866
135MP0005266_abnormal_metabolism0.59798809
136MP0001340_abnormal_eyelid_morphology0.58161911
137MP0000470_abnormal_stomach_morphology0.58111791
138MP0009115_abnormal_fat_cell0.57782726
139MP0005171_absent_coat_pigmentation0.57352877
140MP0002111_abnormal_tail_morphology0.57187266
141MP0002751_abnormal_autonomic_nervous0.57159893
142MP0009053_abnormal_anal_canal0.51542486
143MP0003705_abnormal_hypodermis_morpholog0.51224763
144MP0003861_abnormal_nervous_system0.48805875
145MP0003935_abnormal_craniofacial_develop0.48204276
146MP0004859_abnormal_synaptic_plasticity0.47073827
147MP0000767_abnormal_smooth_muscle0.47049204
148MP0000467_abnormal_esophagus_morphology0.45700511
149MP0005390_skeleton_phenotype0.45047086
150MP0008789_abnormal_olfactory_epithelium0.44667621
151MP0002697_abnormal_eye_size0.43080241
152MP0001270_distended_abdomen0.42791826
153MP0003119_abnormal_digestive_system0.40861092
154MP0000432_abnormal_head_morphology0.40659540
155MP0003252_abnormal_bile_duct0.39795190
156MP0002113_abnormal_skeleton_development0.39360657
157MP0000678_abnormal_parathyroid_gland0.38780757
158MP0005076_abnormal_cell_differentiation0.38482127
159MP0003283_abnormal_digestive_organ0.37748429
160MP0001943_abnormal_respiration0.36235923
161MP0000733_abnormal_muscle_development0.35397089
162MP0004145_abnormal_muscle_electrophysio0.34122240
163MP0002085_abnormal_embryonic_tissue0.33338496
164MP0002081_perinatal_lethality0.32383048
165MP0002127_abnormal_cardiovascular_syste0.31811227
166MP0008438_abnormal_cutaneous_collagen0.31112724
167MP0004858_abnormal_nervous_system0.30991600
168MP0003787_abnormal_imprinting0.30828778
169MP0000639_abnormal_adrenal_gland0.30777694
170MP0001958_emphysema0.30597159
171MP0002177_abnormal_outer_ear0.29753574
172MP0001175_abnormal_lung_morphology0.29417551

Predicted human phenotypes

RankGene SetZ-score
1Mixed hearing impairment (HP:0000410)7.55643862
2Aplasia/Hypoplasia of the pubic bone (HP:0009104)7.33769495
3Epiphyseal dysplasia (HP:0002656)7.31448710
4Severe visual impairment (HP:0001141)6.51851170
5Genetic anticipation (HP:0003743)6.31770371
6Anomalous pulmonary venous return (HP:0010772)6.05317563
7Hypoplastic ischia (HP:0003175)5.98156181
8Abnormal auditory evoked potentials (HP:0006958)5.93145897
9Congenital sensorineural hearing impairment (HP:0008527)5.87377023
10Abnormality of the pulmonary veins (HP:0011718)5.28134740
11Abnormality of the ischium (HP:0003174)5.20641650
12Abnormality of the pubic bones (HP:0003172)5.15078770
13Bilateral microphthalmos (HP:0007633)5.12617167
14Unilateral renal agenesis (HP:0000122)4.97606709
15Progressive cerebellar ataxia (HP:0002073)4.93980491
16Chronic hepatic failure (HP:0100626)4.88770038
17Attenuation of retinal blood vessels (HP:0007843)4.84525526
18Humeroradial synostosis (HP:0003041)4.54939775
19Synostosis involving the elbow (HP:0003938)4.54939775
20Vitreoretinal degeneration (HP:0000655)4.52465759
21Severe Myopia (HP:0011003)4.17027233
22Bell-shaped thorax (HP:0001591)4.13860672
23Congenital stationary night blindness (HP:0007642)4.13715911
24Lip pit (HP:0100267)4.10473806
25Oligodactyly (HP:0012165)3.91769235
26Bony spicule pigmentary retinopathy (HP:0007737)3.90547260
27Abnormal vertebral ossification (HP:0100569)3.90145071
28Vertebral clefting (HP:0008428)3.83553404
29Absent/shortened dynein arms (HP:0200106)3.80717566
30Dynein arm defect of respiratory motile cilia (HP:0012255)3.80717566
31Aplasia/Hypoplasia of the fovea (HP:0008060)3.79971450
32Hypoplasia of the fovea (HP:0007750)3.79971450
33Abnormality of the intervertebral disk (HP:0005108)3.76810980
34Abnormal rod and cone electroretinograms (HP:0008323)3.71085067
35Amelogenesis imperfecta (HP:0000705)3.70218085
36Tubulointerstitial nephritis (HP:0001970)3.69865182
37Absent epiphyses (HP:0010577)3.66591833
38Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)3.66591833
39Abnormality of macular pigmentation (HP:0008002)3.63289284
40Abnormality of dental color (HP:0011073)3.48370204
41Absent eyelashes (HP:0000561)3.42567049
42Enlarged epiphyses (HP:0010580)3.41449453
43Irregular epiphyses (HP:0010582)3.20421293
44Abnormal ciliary motility (HP:0012262)3.12009667
45Pancreatic cysts (HP:0001737)3.09644638
46Abnormal respiratory motile cilium morphology (HP:0005938)3.06637592
47Abnormal respiratory epithelium morphology (HP:0012253)3.06637592
48Renal dysplasia (HP:0000110)3.06231350
49Morphological abnormality of the middle ear (HP:0008609)3.02003874
50Fused cervical vertebrae (HP:0002949)3.01014469
51Mild short stature (HP:0003502)3.00657475
52Arterial tortuosity (HP:0005116)3.00560862
53Alacrima (HP:0000522)3.00472640
54Pendular nystagmus (HP:0012043)2.97887557
55Aplasia of the phalanges of the hand (HP:0009802)2.97568807
56Aplasia involving bones of the extremities (HP:0009825)2.97568807
57Aplasia involving bones of the upper limbs (HP:0009823)2.97568807
58Abnormality of the fovea (HP:0000493)2.95768836
59Hyperkalemia (HP:0002153)2.91401955
60Recurrent corneal erosions (HP:0000495)2.86741114
61Pancreatic fibrosis (HP:0100732)2.86590352
62Cystic liver disease (HP:0006706)2.82681700
63Generalized aminoaciduria (HP:0002909)2.77467433
64Abnormal drinking behavior (HP:0030082)2.77324758
65Polydipsia (HP:0001959)2.77324758
66Abnormality of midbrain morphology (HP:0002418)2.76329708
67Molar tooth sign on MRI (HP:0002419)2.76329708
68Abnormal respiratory motile cilium physiology (HP:0012261)2.75688301
69Retinal dysplasia (HP:0007973)2.71729566
70Abnormality of the lacrimal duct (HP:0011481)2.71454525
71True hermaphroditism (HP:0010459)2.68188987
72Meningocele (HP:0002435)2.67540499
73Sprengel anomaly (HP:0000912)2.65010014
74Aplasia/Hypoplasia of the macula (HP:0008059)2.64452783
75Cone-rod dystrophy (HP:0000548)2.64282060
76Male infertility (HP:0003251)2.63028703
77Vascular tortuosity (HP:0004948)2.62166968
78Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.61763155
79Asymmetric septal hypertrophy (HP:0001670)2.60421797
80Partial duplication of thumb phalanx (HP:0009944)2.58935132
81Protuberant abdomen (HP:0001538)2.56461668
82Midline defect of the nose (HP:0004122)2.51476587
83Hypoplasia of the thymus (HP:0000778)2.49718431
84Aplasia/Hypoplasia of the earlobes (HP:0009906)2.48302934
85Decreased lacrimation (HP:0000633)2.48185170
86Exostoses (HP:0100777)2.46621442
87Aplasia/Hypoplasia affecting the retina (HP:0008061)2.45181524
88Vertebral arch anomaly (HP:0008438)2.43998207
89Preauricular pit (HP:0004467)2.42957345
90Periauricular skin pits (HP:0100277)2.42957345
91Multifactorial inheritance (HP:0001426)2.40897090
92Synostosis of carpal bones (HP:0005048)2.39164351
93Abnormality of the nasolacrimal system (HP:0000614)2.37447707
94Gaze-evoked nystagmus (HP:0000640)2.33531468
95Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.33235415
96Insulin-resistant diabetes mellitus (HP:0000831)2.32128355
97Impulsivity (HP:0100710)2.31708802
98Infertility (HP:0000789)2.31629778
99Type 2 muscle fiber atrophy (HP:0003554)2.31304659
100Decreased central vision (HP:0007663)2.28353240
101Glossoptosis (HP:0000162)2.27622733
102Sclerocornea (HP:0000647)2.26672360
103Osteoarthritis (HP:0002758)2.25704069
104Atonic seizures (HP:0010819)2.24816361
105Abnormal urine output (HP:0012590)2.24244524
106Platyspondyly (HP:0000926)2.22126216
107Morphological abnormality of the inner ear (HP:0011390)2.21800840
108Ectopic anus (HP:0004397)2.20850367
109Polyuria (HP:0000103)2.20742110
110Muscle fiber atrophy (HP:0100295)2.20168285
111Partial duplication of the phalanx of hand (HP:0009999)2.19955004
112Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.19066447
113Facial shape deformation (HP:0011334)2.18293140
114Potter facies (HP:0002009)2.18293140
115Type II lissencephaly (HP:0007260)2.16341750
116Postural instability (HP:0002172)2.14833245
117Scotoma (HP:0000575)2.14109520
118Occipital encephalocele (HP:0002085)2.13174828
119Papillary thyroid carcinoma (HP:0002895)2.12822938
120Alopecia of scalp (HP:0002293)2.11172980
121Flattened epiphyses (HP:0003071)2.10730805
122Abnormality of the vitreous humor (HP:0004327)2.10224580
123Hemiparesis (HP:0001269)2.08452381
124Nasolacrimal duct obstruction (HP:0000579)2.08241024
125Resting tremor (HP:0002322)2.07960528
126Tubulointerstitial abnormality (HP:0001969)2.02648115
127Abnormality of the aortic arch (HP:0012303)2.01534013
128Pigmentary retinal degeneration (HP:0001146)2.00069825
129Renovascular hypertension (HP:0100817)1.98252399
130Abnormal albumin level (HP:0012116)1.97053675
131Hypoalbuminemia (HP:0003073)1.97053675
132Abnormality of potassium homeostasis (HP:0011042)1.96929069
133Congenital hepatic fibrosis (HP:0002612)1.96007088
134Abnormality of renal excretion (HP:0011036)1.94847427
135Abnormality of the renal medulla (HP:0100957)1.93544284
136Abnormality of the parathyroid morphology (HP:0011766)1.92229131
137Truncal obesity (HP:0001956)1.92113662
138Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.88967031
139Abolished electroretinogram (ERG) (HP:0000550)1.88097353
140Tubular atrophy (HP:0000092)1.86662067
141Genu varum (HP:0002970)1.86178301
142Anencephaly (HP:0002323)1.85890519
143Absent hair (HP:0002298)1.85756234
144Limited hip movement (HP:0008800)1.85277123
145Nasal polyposis (HP:0100582)1.85062297
146Oligodactyly (hands) (HP:0001180)1.84630308
147Absent eyebrow (HP:0002223)1.84318570
148Abnormality of incisor morphology (HP:0011063)1.84095281
149Flared metaphyses (HP:0003015)1.82045166
150Hypoplastic ilia (HP:0000946)1.81814439
151Chromosomal breakage induced by crosslinking agents (HP:0003221)1.81578547
152Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.81370763
153Hip contracture (HP:0003273)1.81260643
154Hypoplastic nipples (HP:0002557)1.81248437
155Skin pits (HP:0100276)1.79573064
156Nephronophthisis (HP:0000090)1.79548522
157Abnormality of the renal cortex (HP:0011035)1.79535230
158Abnormality of the salivary glands (HP:0010286)1.78304362
159Abnormality of the humeroradial joint (HP:0100744)1.77440010
160Knee flexion contracture (HP:0006380)1.76523092
161Anophthalmia (HP:0000528)1.76262601
162Rhizomelia (HP:0008905)1.76055932
163Central scotoma (HP:0000603)1.75764428
164Bicornuate uterus (HP:0000813)1.75741936
165Abnormality of the renal collecting system (HP:0004742)1.74416875
166Renal agenesis (HP:0000104)1.73938067
167Ectopic kidney (HP:0000086)1.73616957
168Cerebellar dysplasia (HP:0007033)1.72251224
169Preauricular skin tag (HP:0000384)1.72134380
170Cupped ear (HP:0000378)1.72000332
171Spina bifida occulta (HP:0003298)1.71951734
172Chorioretinal atrophy (HP:0000533)1.70818317
173Stage 5 chronic kidney disease (HP:0003774)1.68634859
174Spondylolisthesis (HP:0003302)1.68051704
175Hypoplastic pelvis (HP:0008839)1.67840526
176Photophobia (HP:0000613)1.67749148
177Postaxial foot polydactyly (HP:0001830)1.67622972
178Type II diabetes mellitus (HP:0005978)1.67349909
179Congenital malformation of the right heart (HP:0011723)1.66637196
180Double outlet right ventricle (HP:0001719)1.66637196
181Short thorax (HP:0010306)1.66598052
182Hyperventilation (HP:0002883)1.66080955
183Respiratory distress (HP:0002098)1.63220073
184Abnormality of DNA repair (HP:0003254)1.62572751
185Abnormality of the neuromuscular junction (HP:0003398)1.60805606
186Fatigable weakness (HP:0003473)1.60805606
187Optic nerve hypoplasia (HP:0000609)1.60549681

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK45.91064905
2FRK3.53629299
3LATS13.49588861
4TXK3.32005839
5EPHB13.27368540
6TESK13.17304667
7EPHA22.98461874
8TRPM72.93594955
9MAPK152.56495571
10BMPR1B2.17427618
11EPHA32.11090292
12PLK22.02924296
13DDR212.4537608
14MAP4K21.91833522
15DYRK1B1.84964213
16STK381.77405112
17ADRBK21.76929567
18FGFR31.69583841
19PIK3CG1.62245291
20SIK11.57132827
21ZAK1.39902528
22CAMK1D1.27860238
23YES11.27307346
24CASK1.24868876
25BRD41.21906174
26ERBB31.21081325
27UHMK11.19809944
28NTRK11.15898455
29ERBB21.15689206
30RIPK11.15422355
31MARK31.12947994
32IRAK11.11186402
33SIK31.06378160
34FGFR41.05131184
35MKNK21.04644276
36OXSR11.03319896
37PAK31.02992801
38TYRO30.95018832
39CDK80.94419975
40FER0.93570898
41DAPK20.90746943
42CSNK1A1L0.90247145
43PDK10.88513901
44CDK60.86224818
45PAK40.81992488
46MAP4K10.81346050
47PRKCG0.79609845
48TNIK0.78319383
49MAP3K130.77433752
50HIPK20.76417052
51CAMK10.74844337
52MST1R0.72682791
53NME10.72294192
54NTRK30.72077402
55STK38L0.72027976
56WNK10.71293763
57MARK10.71150167
58DYRK20.70704834
59FGFR10.70568073
60ERBB40.70349848
61STK30.70161052
62CDK30.70023082
63CDK70.68769086
64NUAK10.67668459
65MKNK10.64705456
66PTK60.62337646
67PDPK10.62277753
68RPS6KL10.62111155
69RPS6KC10.62111155
70TGFBR10.61972562
71BCR0.61921640
72LATS20.59497070
73CAMK1G0.59240829
74TRIB30.57888939
75ADRBK10.55325171
76TIE10.55112956
77MAP3K90.53849508
78RPS6KA60.53776376
79DMPK0.53066993
80WNK40.52944952
81PASK0.52496477
82PRKCE0.52418261
83TNK20.51517085
84MAP3K100.50280729
85EPHB20.50058950
86INSRR0.49443088
87AKT30.49021730
88MAP3K110.48606266
89KSR10.45186414
90IRAK20.44585571
91CAMKK10.44317655
92CAMK40.44266150
93CDC70.43599078
94PRKG10.43486419
95MUSK0.43245710
96KDR0.43097902
97NLK0.42974653
98PKN10.42612577
99BUB10.42569231
100PNCK0.42406099
101MST40.42020226
102PRKD30.40829879
103PRKAA20.40056287
104WNK30.39497514
105MAP3K40.38883490
106PINK10.37507682
107CDC42BPA0.37198977
108BLK0.37163726
109NEK20.37140618
110MAP3K20.36851690
111CDK50.36558421
112MAP3K70.36175736
113NTRK20.35958381
114RPS6KA20.35779617
115CSNK1A10.35423568
116ALK0.34605065
117PDGFRA0.34188274
118LIMK10.33783584
119CHEK10.33570338
120CDK120.33116731
121NEK60.32505465
122MAP2K70.32301317
123SIK20.30928681
124GSK3B0.30864019
125CDK190.30790799
126RPS6KA10.30475652
127TAOK10.30145552
128CDK10.30097390
129PKN20.29831543
130MAP2K60.29415873
131CHEK20.29072258
132CAMK2A0.28814475
133CDK20.28136440
134PRPF4B0.27852158
135TESK20.27197328
136TLK10.26933382
137CSNK1G10.26500806
138PRKCH0.26085384
139PRKCA0.25799735
140PRKCZ0.24619953
141SGK4940.24569222
142SGK2230.24569222
143CSNK1G30.24411736
144RET0.23362858
145TGFBR20.22086474
146LMTK20.20733581
147SGK10.19993748
148CSNK1E0.19876191
149ABL10.19834369
150CSNK1D0.19553607
151CSNK1G20.18785331
152STK390.18641377
153ROCK20.18450219
154GRK10.18308117
155EGFR0.17913093
156SGK20.15968048
157MAP3K10.15672153
158MAP3K120.15432206
159MAP2K40.14499539
160JAK20.13390448
161RIPK40.13173135
162PTK2B0.13055481

Predicted pathways (KEGG)

RankGene SetZ-score
1Other types of O-glycan biosynthesis_Homo sapiens_hsa005145.06160366
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000724.45369703
3Notch signaling pathway_Homo sapiens_hsa043303.85843441
4Phototransduction_Homo sapiens_hsa047443.30834618
5Butanoate metabolism_Homo sapiens_hsa006503.13149905
6Hippo signaling pathway_Homo sapiens_hsa043902.97556221
7Olfactory transduction_Homo sapiens_hsa047402.89794872
8Basal cell carcinoma_Homo sapiens_hsa052172.83954839
9Cell adhesion molecules (CAMs)_Homo sapiens_hsa045142.60738542
10Dorso-ventral axis formation_Homo sapiens_hsa043202.58376554
11Phenylalanine metabolism_Homo sapiens_hsa003602.23323953
12TGF-beta signaling pathway_Homo sapiens_hsa043502.17231795
13Protein digestion and absorption_Homo sapiens_hsa049742.15438212
14Morphine addiction_Homo sapiens_hsa050322.12540958
15ECM-receptor interaction_Homo sapiens_hsa045122.09336113
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.97083302
17Linoleic acid metabolism_Homo sapiens_hsa005911.91524526
18Tight junction_Homo sapiens_hsa045301.88007186
19Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.82081639
20Antigen processing and presentation_Homo sapiens_hsa046121.82043858
21Wnt signaling pathway_Homo sapiens_hsa043101.80605472
22Adherens junction_Homo sapiens_hsa045201.76580574
23Homologous recombination_Homo sapiens_hsa034401.75243681
24Lysine degradation_Homo sapiens_hsa003101.73400991
25Graft-versus-host disease_Homo sapiens_hsa053321.70875401
26Leukocyte transendothelial migration_Homo sapiens_hsa046701.66888406
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65950233
28Melanogenesis_Homo sapiens_hsa049161.65934854
29Glycerophospholipid metabolism_Homo sapiens_hsa005641.62202125
30Axon guidance_Homo sapiens_hsa043601.60798005
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60309599
32Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.51210235
33Selenocompound metabolism_Homo sapiens_hsa004501.49872501
34GABAergic synapse_Homo sapiens_hsa047271.49794892
35Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.44859690
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.41671654
37ErbB signaling pathway_Homo sapiens_hsa040121.40748480
38Maturity onset diabetes of the young_Homo sapiens_hsa049501.38030823
39Type I diabetes mellitus_Homo sapiens_hsa049401.37543549
40Histidine metabolism_Homo sapiens_hsa003401.37154551
41Chronic myeloid leukemia_Homo sapiens_hsa052201.35770615
42Cardiac muscle contraction_Homo sapiens_hsa042601.34926648
43Bladder cancer_Homo sapiens_hsa052191.34307534
44Proteoglycans in cancer_Homo sapiens_hsa052051.32768334
45ABC transporters_Homo sapiens_hsa020101.31454692
46Nitrogen metabolism_Homo sapiens_hsa009101.30848246
47Fanconi anemia pathway_Homo sapiens_hsa034601.28565824
48Focal adhesion_Homo sapiens_hsa045101.27218951
49Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.23356163
50Purine metabolism_Homo sapiens_hsa002301.21884802
51Fat digestion and absorption_Homo sapiens_hsa049751.19895440
52RNA polymerase_Homo sapiens_hsa030201.17779549
53Hepatitis C_Homo sapiens_hsa051601.13172133
54Tryptophan metabolism_Homo sapiens_hsa003801.10828693
55Colorectal cancer_Homo sapiens_hsa052101.07424741
56Melanoma_Homo sapiens_hsa052181.07304680
57Ether lipid metabolism_Homo sapiens_hsa005651.07208710
58Autoimmune thyroid disease_Homo sapiens_hsa053201.06688531
59MicroRNAs in cancer_Homo sapiens_hsa052061.03879215
60Allograft rejection_Homo sapiens_hsa053301.03644033
61Dilated cardiomyopathy_Homo sapiens_hsa054141.01305360
62Taste transduction_Homo sapiens_hsa047421.01047398
63Salivary secretion_Homo sapiens_hsa049701.00148005
64Estrogen signaling pathway_Homo sapiens_hsa049150.99616210
65Serotonergic synapse_Homo sapiens_hsa047260.99608659
66Glycerolipid metabolism_Homo sapiens_hsa005610.99031673
67Huntingtons disease_Homo sapiens_hsa050160.98569205
68beta-Alanine metabolism_Homo sapiens_hsa004100.98191147
69Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.97199004
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.96102419
71Synaptic vesicle cycle_Homo sapiens_hsa047210.95970283
72Primary immunodeficiency_Homo sapiens_hsa053400.95471841
73Fatty acid biosynthesis_Homo sapiens_hsa000610.94906397
74Renin-angiotensin system_Homo sapiens_hsa046140.94215046
75Cocaine addiction_Homo sapiens_hsa050300.90770295
76RNA transport_Homo sapiens_hsa030130.89271075
77AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.87502418
78Hedgehog signaling pathway_Homo sapiens_hsa043400.85384872
79Endometrial cancer_Homo sapiens_hsa052130.85222612
80Prolactin signaling pathway_Homo sapiens_hsa049170.83421666
81Glioma_Homo sapiens_hsa052140.83298668
82Pancreatic cancer_Homo sapiens_hsa052120.82548611
83Primary bile acid biosynthesis_Homo sapiens_hsa001200.81492217
84Prostate cancer_Homo sapiens_hsa052150.81073458
85Inositol phosphate metabolism_Homo sapiens_hsa005620.81000597
86Long-term depression_Homo sapiens_hsa047300.80695426
87Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.79417187
88Pancreatic secretion_Homo sapiens_hsa049720.78328453
89Transcriptional misregulation in cancer_Homo sapiens_hsa052020.78194420
90Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.76398198
91Pathways in cancer_Homo sapiens_hsa052000.75508217
92Rap1 signaling pathway_Homo sapiens_hsa040150.75270515
93Mineral absorption_Homo sapiens_hsa049780.73838982
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.73365752
95PI3K-Akt signaling pathway_Homo sapiens_hsa041510.72790896
96cAMP signaling pathway_Homo sapiens_hsa040240.72545970
97Fatty acid metabolism_Homo sapiens_hsa012120.71936683
98FoxO signaling pathway_Homo sapiens_hsa040680.71575684
99Renal cell carcinoma_Homo sapiens_hsa052110.70854673
100Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70152848
101Tyrosine metabolism_Homo sapiens_hsa003500.69307568
102Fatty acid degradation_Homo sapiens_hsa000710.69067458
103Vascular smooth muscle contraction_Homo sapiens_hsa042700.68102450
104Arginine and proline metabolism_Homo sapiens_hsa003300.66683759
105Retinol metabolism_Homo sapiens_hsa008300.65661163
106Amphetamine addiction_Homo sapiens_hsa050310.65209738
107Steroid hormone biosynthesis_Homo sapiens_hsa001400.65074269
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.64562542
109Amoebiasis_Homo sapiens_hsa051460.64028494
110Insulin resistance_Homo sapiens_hsa049310.63857589
111Regulation of actin cytoskeleton_Homo sapiens_hsa048100.63378099
112Type II diabetes mellitus_Homo sapiens_hsa049300.63266882
113Oxidative phosphorylation_Homo sapiens_hsa001900.62969447
114Circadian rhythm_Homo sapiens_hsa047100.62148993
115Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60356138
116Pyrimidine metabolism_Homo sapiens_hsa002400.59200078
117Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.58810908
118MAPK signaling pathway_Homo sapiens_hsa040100.58540974
119TNF signaling pathway_Homo sapiens_hsa046680.57836189
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57613529
121Arginine biosynthesis_Homo sapiens_hsa002200.57266242
122Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.56111527
123Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55889730
124Hepatitis B_Homo sapiens_hsa051610.55210750
125Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55191015
126Ras signaling pathway_Homo sapiens_hsa040140.54080778
127Toxoplasmosis_Homo sapiens_hsa051450.53676312
128Leishmaniasis_Homo sapiens_hsa051400.53141391
129Aldosterone synthesis and secretion_Homo sapiens_hsa049250.52974334
130Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.52072644
131HTLV-I infection_Homo sapiens_hsa051660.51953005
132Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51119107
133Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.50933652
134Viral myocarditis_Homo sapiens_hsa054160.50281165
135Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50239527
136Oocyte meiosis_Homo sapiens_hsa041140.49672044
137Small cell lung cancer_Homo sapiens_hsa052220.49657267
138Chemical carcinogenesis_Homo sapiens_hsa052040.49507610
139Calcium signaling pathway_Homo sapiens_hsa040200.48670029
140Base excision repair_Homo sapiens_hsa034100.48415730
141Sulfur relay system_Homo sapiens_hsa041220.47944101
142Metabolic pathways_Homo sapiens_hsa011000.46959538
143Insulin secretion_Homo sapiens_hsa049110.46528170
144Thyroid hormone synthesis_Homo sapiens_hsa049180.46399670
145Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.45451174
146Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.45066893
147Dopaminergic synapse_Homo sapiens_hsa047280.44780187
148Prion diseases_Homo sapiens_hsa050200.44390071
149Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43752642
150Nicotine addiction_Homo sapiens_hsa050330.43542676
151Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.42830191
152Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42574116
153Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.42445486
154Choline metabolism in cancer_Homo sapiens_hsa052310.41336705
155GnRH signaling pathway_Homo sapiens_hsa049120.41123990
156Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.41063773
157Glutamatergic synapse_Homo sapiens_hsa047240.40564730
158Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.39628087
159Propanoate metabolism_Homo sapiens_hsa006400.39380446
160Circadian entrainment_Homo sapiens_hsa047130.37500034
161Insulin signaling pathway_Homo sapiens_hsa049100.37358282
162Oxytocin signaling pathway_Homo sapiens_hsa049210.37355743
163Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.36750910
164Thyroid cancer_Homo sapiens_hsa052160.36195440
165Basal transcription factors_Homo sapiens_hsa030220.36192507
166Parkinsons disease_Homo sapiens_hsa050120.35395525
167Vibrio cholerae infection_Homo sapiens_hsa051100.34440611
168cGMP-PKG signaling pathway_Homo sapiens_hsa040220.34209925
169Cholinergic synapse_Homo sapiens_hsa047250.34201771
170Gastric acid secretion_Homo sapiens_hsa049710.34011922
171Arachidonic acid metabolism_Homo sapiens_hsa005900.33986449
172Ovarian steroidogenesis_Homo sapiens_hsa049130.30564950
173Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29341469
174Peroxisome_Homo sapiens_hsa041460.27669826
175One carbon pool by folate_Homo sapiens_hsa006700.27383637

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