OTOGL

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 belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1inner ear receptor cell differentiation (GO:0060113)9.04724650
2hair cell differentiation (GO:0035315)8.42889618
3endocardial cushion morphogenesis (GO:0003203)8.12592427
4mechanoreceptor differentiation (GO:0042490)7.44150754
5protein polyglutamylation (GO:0018095)7.24993972
6pathway-restricted SMAD protein phosphorylation (GO:0060389)6.64881689
7Notch signaling involved in heart development (GO:0061314)6.46119500
8sensory perception of sound (GO:0007605)6.38049036
9mesenchyme morphogenesis (GO:0072132)6.33979696
10sensory perception of mechanical stimulus (GO:0050954)6.27220812
11glycoprotein catabolic process (GO:0006516)6.16185649
12positive regulation of Notch signaling pathway (GO:0045747)6.01245328
13* pentose metabolic process (GO:0019321)6.00116058
14type B pancreatic cell proliferation (GO:0044342)5.88853091
15aorta morphogenesis (GO:0035909)5.75517695
16fat-soluble vitamin catabolic process (GO:0042363)5.46179147
17vitamin catabolic process (GO:0009111)5.46179147
18cellular sodium ion homeostasis (GO:0006883)5.40067383
19epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)5.12987724
20regulation of secondary heart field cardioblast proliferation (GO:0003266)5.04161669
21regulation of cardioblast proliferation (GO:0003264)5.04161669
22negative regulation of hormone biosynthetic process (GO:0032353)4.96773638
23heart valve morphogenesis (GO:0003179)4.83034923
24relaxation of smooth muscle (GO:0044557)4.76302233
25regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.71115924
26regulation of skeletal muscle cell differentiation (GO:2001014)4.64325858
27cardiac right ventricle morphogenesis (GO:0003215)4.52483788
28sequestering of extracellular ligand from receptor (GO:0035581)4.48232150
29lipopolysaccharide biosynthetic process (GO:0009103)4.39486224
30regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.36800327
31detection of calcium ion (GO:0005513)4.29259864
32negative regulation of cytosolic calcium ion concentration (GO:0051481)4.25874048
33cardiac ventricle morphogenesis (GO:0003208)4.25787664
34membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.25734669
35locomotory exploration behavior (GO:0035641)4.18514353
36negative regulation of hormone metabolic process (GO:0032351)4.13540973
37lateral sprouting from an epithelium (GO:0060601)4.10686298
38neuronal stem cell maintenance (GO:0097150)4.10472609
39relaxation of cardiac muscle (GO:0055119)4.07997765
40ventricular septum morphogenesis (GO:0060412)4.04325612
41endocrine hormone secretion (GO:0060986)3.99076718
42regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.97490028
43cardiac epithelial to mesenchymal transition (GO:0060317)3.94516684
44outer ear morphogenesis (GO:0042473)3.91558506
45insulin secretion (GO:0030073)3.91437076
46heart valve formation (GO:0003188)3.90751418
47bone trabecula formation (GO:0060346)3.87657746
48regulation of relaxation of muscle (GO:1901077)3.85114640
49galactose catabolic process (GO:0019388)3.83993594
50type B pancreatic cell development (GO:0003323)3.82750633
51atrioventricular valve morphogenesis (GO:0003181)3.78475260
52endocrine pancreas development (GO:0031018)3.77908801
53inner ear morphogenesis (GO:0042472)3.77714850
54cartilage condensation (GO:0001502)3.75058007
55cell aggregation (GO:0098743)3.75058007
56cardiac muscle cell proliferation (GO:0060038)3.74131998
57lipopolysaccharide metabolic process (GO:0008653)3.72785762
58cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.70388519
59cardiac chamber morphogenesis (GO:0003206)3.67218083
60relaxation of muscle (GO:0090075)3.63394419
61cochlea development (GO:0090102)3.62007490
62positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.59820558
63nephron tubule development (GO:0072080)3.59336088
64positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.54632221
65regulation of Notch signaling pathway (GO:0008593)3.54407332
66neuroblast proliferation (GO:0007405)3.54295914
67regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.53105641
68adrenergic receptor signaling pathway (GO:0071875)3.48388023
69regulation of type B pancreatic cell apoptotic process (GO:2000674)3.46523527
70nitric oxide mediated signal transduction (GO:0007263)3.43776393
71positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.42383638
72positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)3.40645078
73lung epithelium development (GO:0060428)3.35712380
74positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003573.34877714
75negative regulation of leukocyte chemotaxis (GO:0002689)3.31449219
76somatic stem cell division (GO:0048103)3.31241827
77dorsal/ventral axis specification (GO:0009950)3.30633732
78lens fiber cell development (GO:0070307)3.29823755
79cell surface receptor signaling pathway involved in heart development (GO:0061311)3.28089267
80cardiac conduction (GO:0061337)3.26874452
81regulation of corticosteroid hormone secretion (GO:2000846)3.24355010
82ventricular trabecula myocardium morphogenesis (GO:0003222)3.23413337
83positive regulation of skeletal muscle tissue development (GO:0048643)3.20910118
84regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.19768967
85negative regulation of smooth muscle cell migration (GO:0014912)3.19373754
86planar cell polarity pathway involved in neural tube closure (GO:0090179)3.17721513
87non-canonical Wnt signaling pathway (GO:0035567)3.16148534
88collagen metabolic process (GO:0032963)3.15860734
89establishment of planar polarity (GO:0001736)3.14875236
90establishment of tissue polarity (GO:0007164)3.14875236
91signal peptide processing (GO:0006465)3.14325035
92gap junction assembly (GO:0016264)3.13290202
93embryonic retina morphogenesis in camera-type eye (GO:0060059)3.12562149
94regulation of heart morphogenesis (GO:2000826)3.12030384
95striated muscle cell proliferation (GO:0014855)3.10422838
96nucleoside diphosphate catabolic process (GO:0009134)3.09516138
97renal tubule development (GO:0061326)3.08846812
98glycerophospholipid catabolic process (GO:0046475)3.08444023
99urinary tract smooth muscle contraction (GO:0014848)3.07302226
100positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.06380263
101sodium ion homeostasis (GO:0055078)3.05879818
102myofibril assembly (GO:0030239)3.05539205
103regulation of chemokine-mediated signaling pathway (GO:0070099)3.05105634
104ectodermal placode formation (GO:0060788)3.03713135
105cranial nerve development (GO:0021545)3.03094899
106collagen catabolic process (GO:0030574)3.02863656
107detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.02454183
108activin receptor signaling pathway (GO:0032924)3.02163136
109generation of neurons (GO:0048699)3.01237227
110pharyngeal system development (GO:0060037)3.00675259
111vascular smooth muscle contraction (GO:0014829)2.97215472
112protein localization to cell surface (GO:0034394)2.96884833
113regulation of sarcomere organization (GO:0060297)2.96487513
114regulation of heart rate by cardiac conduction (GO:0086091)2.96048590
115stem cell development (GO:0048864)2.95707568
116regulation of alkaline phosphatase activity (GO:0010692)2.95505016
117cardiac septum morphogenesis (GO:0060411)2.95129111
118multicellular organismal macromolecule metabolic process (GO:0044259)2.94620508
119positive regulation of insulin secretion (GO:0032024)2.93869105
120regulation of transforming growth factor beta2 production (GO:0032909)2.93216533
121regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.92115767
122regulation of voltage-gated calcium channel activity (GO:1901385)2.90970671
123cell communication by electrical coupling (GO:0010644)2.89412366
124cell communication involved in cardiac conduction (GO:0086065)2.89219967
125SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)2.89214120
126regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.88671238
127inner ear development (GO:0048839)2.88357363
128collagen fibril organization (GO:0030199)2.88199840
129cardiac muscle cell action potential (GO:0086001)2.88096046
130negative regulation of execution phase of apoptosis (GO:1900118)2.84747821
131cellular ketone body metabolic process (GO:0046950)2.84743993
132glandular epithelial cell development (GO:0002068)2.82709327
133nephron epithelium development (GO:0072009)2.82401902
134detection of light stimulus involved in visual perception (GO:0050908)2.81652168
135detection of light stimulus involved in sensory perception (GO:0050962)2.81652168
136male genitalia development (GO:0030539)2.80853449
137cardiac muscle hypertrophy (GO:0003300)2.79402636
138positive regulation of gluconeogenesis (GO:0045722)2.79058395
139cochlea morphogenesis (GO:0090103)2.78932433
140mesenchymal cell development (GO:0014031)2.78869507
141regulation of acyl-CoA biosynthetic process (GO:0050812)2.78714909
142negative regulation of microtubule polymerization (GO:0031115)2.78504738
143calcium ion import (GO:0070509)2.75603500
144cardiac myofibril assembly (GO:0055003)2.74742221
145multicellular organismal catabolic process (GO:0044243)2.74542282
146multicellular organismal metabolic process (GO:0044236)2.74466149
147chondrocyte proliferation (GO:0035988)2.74295759
148regulation of cell communication by electrical coupling (GO:0010649)2.74107404
149epithelial cell fate commitment (GO:0072148)2.74030745
150dendritic spine morphogenesis (GO:0060997)2.73790873
151regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.73656050
152deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.72776487
153regulation of skeletal muscle contraction (GO:0014819)2.68295274
154regulation of steroid hormone biosynthetic process (GO:0090030)2.67342238
155nerve growth factor signaling pathway (GO:0038180)2.66130383
156bundle of His cell to Purkinje myocyte communication (GO:0086069)2.65880167
157positive regulation of heart rate (GO:0010460)2.64262646
158striated muscle hypertrophy (GO:0014897)2.62594160
159regulation of cardiac muscle contraction (GO:0055117)2.59826310
160membrane depolarization during action potential (GO:0086010)2.59264467
161peptide hormone processing (GO:0016486)2.58748678
162peptide hormone secretion (GO:0030072)2.58044765
163serotonin metabolic process (GO:0042428)2.56897010
164regulation of glucocorticoid metabolic process (GO:0031943)2.54035329
165peptide secretion (GO:0002790)2.48879149
166glandular epithelial cell differentiation (GO:0002067)2.48335725
167positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.47348286
168regulation of heart rate (GO:0002027)2.47306424
169behavioral response to cocaine (GO:0048148)2.47152737
170extracellular regulation of signal transduction (GO:1900115)2.47014501
171extracellular negative regulation of signal transduction (GO:1900116)2.47014501
172negative regulation of complement activation (GO:0045916)2.45327028
173ketone body metabolic process (GO:1902224)2.44724826
174positive regulation of sodium ion transmembrane transport (GO:1902307)2.41481138
175regulation of sodium ion transmembrane transporter activity (GO:2000649)2.41053982
176cardiac muscle cell action potential involved in contraction (GO:0086002)2.40531566
177ventricular cardiac muscle cell action potential (GO:0086005)2.39686088
178negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.39576449
179positive regulation of sodium ion transport (GO:0010765)2.39105256
180regulation of calcium ion-dependent exocytosis (GO:0017158)2.38768359
181positive regulation of peptide hormone secretion (GO:0090277)2.38449805
182multicellular organismal signaling (GO:0035637)2.38318474
183negative regulation of heart rate (GO:0010459)2.38035232
184positive regulation of cardiac muscle hypertrophy (GO:0010613)2.37923901
185positive regulation of muscle hypertrophy (GO:0014742)2.37923901
186heparin biosynthetic process (GO:0030210)2.37497120
187heparin metabolic process (GO:0030202)2.37497120
188water-soluble vitamin biosynthetic process (GO:0042364)2.36475988
189positive regulation of amino acid transport (GO:0051957)2.36250286
190regulation of coenzyme metabolic process (GO:0051196)2.35890232
191regulation of cofactor metabolic process (GO:0051193)2.35890232
192cardiac muscle contraction (GO:0060048)2.35147045
193action potential (GO:0001508)2.34567191
194neuronal action potential (GO:0019228)2.32392784
195embryonic digestive tract development (GO:0048566)2.31466288
196magnesium ion transport (GO:0015693)2.31221659
197response to pheromone (GO:0019236)2.30699006
198auditory receptor cell differentiation (GO:0042491)13.5538888
199regulation of somitogenesis (GO:0014807)11.7841975

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat7.40843109
2TRIM28_21343339_ChIP-Seq_HEK293_Human7.02985099
3TP63_17297297_ChIP-ChIP_HaCaT_Human5.77542406
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.01404990
5GBX2_23144817_ChIP-Seq_PC3_Human3.60620092
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.76472908
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.62591419
8ERG_21242973_ChIP-ChIP_JURKAT_Human2.59000537
9CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.43309949
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.40907317
11TAF15_26573619_Chip-Seq_HEK293_Human2.38671550
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.34433243
13EZH2_18974828_ChIP-Seq_MESCs_Mouse2.34433243
14EZH2_22144423_ChIP-Seq_EOC_Human2.28515699
15VDR_22108803_ChIP-Seq_LS180_Human2.22755160
16ZNF217_24962896_ChIP-Seq_MCF-7_Human2.21676978
17ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19158022
18FUS_26573619_Chip-Seq_HEK293_Human2.16306469
19RNF2_27304074_Chip-Seq_ESCs_Mouse2.10882133
20SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.10521626
21SMAD4_21799915_ChIP-Seq_A2780_Human2.10471690
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.08203908
23ESR1_21235772_ChIP-Seq_MCF-7_Human2.06210445
24ESR2_21235772_ChIP-Seq_MCF-7_Human2.04720555
25FLI1_27457419_Chip-Seq_LIVER_Mouse2.03804660
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.02543486
27P300_19829295_ChIP-Seq_ESCs_Human2.02182686
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.00489353
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.93924816
30SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.91111167
31WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.86992982
32ZNF274_21170338_ChIP-Seq_K562_Hela1.86701924
33SUZ12_27294783_Chip-Seq_ESCs_Mouse1.85775561
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.83455435
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.81990757
36EED_16625203_ChIP-ChIP_MESCs_Mouse1.79719185
37SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.75622901
38STAT3_23295773_ChIP-Seq_U87_Human1.75137680
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.74800800
40TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.74800800
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.74594328
42AHR_22903824_ChIP-Seq_MCF-7_Human1.72110366
43BCAT_22108803_ChIP-Seq_LS180_Human1.69061685
44FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.67739178
45ARNT_22903824_ChIP-Seq_MCF-7_Human1.67397077
46RING1B_27294783_Chip-Seq_ESCs_Mouse1.66552367
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.66255341
48AR_25329375_ChIP-Seq_VCAP_Human1.60553948
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.60540691
50PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58827413
51WT1_25993318_ChIP-Seq_PODOCYTE_Human1.58051798
52EWS_26573619_Chip-Seq_HEK293_Human1.56856743
53TCF4_23295773_ChIP-Seq_U87_Human1.55315124
54IGF1R_20145208_ChIP-Seq_DFB_Human1.53038192
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.52931305
56ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.52923871
57EZH2_27304074_Chip-Seq_ESCs_Mouse1.52237205
58NANOG_18555785_Chip-Seq_ESCs_Mouse1.51834884
59SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.51423683
60TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.51368637
61MTF2_20144788_ChIP-Seq_MESCs_Mouse1.50715384
62KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.50200212
63KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.50200212
64KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.50200212
65EP300_21415370_ChIP-Seq_HL-1_Mouse1.50116137
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.46125782
67TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.44842417
68EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.43676079
69TOP2B_26459242_ChIP-Seq_MCF-7_Human1.40479638
70EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.40401346
71EZH2_27294783_Chip-Seq_NPCs_Mouse1.39167548
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39064813
73RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.38729385
74TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38228373
75DROSHA_22980978_ChIP-Seq_HELA_Human1.37477440
76SMAD3_21741376_ChIP-Seq_HESCs_Human1.37393452
77ER_23166858_ChIP-Seq_MCF-7_Human1.36458115
78PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.36346290
79RING1B_27294783_Chip-Seq_NPCs_Mouse1.34087527
80NRF2_20460467_ChIP-Seq_MEFs_Mouse1.33997559
81NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.33997559
82E2F1_18555785_Chip-Seq_ESCs_Mouse1.33907459
83SUZ12_27294783_Chip-Seq_NPCs_Mouse1.32948064
84BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.32942380
85SOX2_19829295_ChIP-Seq_ESCs_Human1.32075655
86NANOG_19829295_ChIP-Seq_ESCs_Human1.32075655
87PIAS1_25552417_ChIP-Seq_VCAP_Human1.30927089
88P53_22387025_ChIP-Seq_ESCs_Mouse1.28742852
89CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27492120
90MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.26607361
91SMAD4_21741376_ChIP-Seq_EPCs_Human1.25968506
92HTT_18923047_ChIP-ChIP_STHdh_Human1.25546654
93HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.25432495
94RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.25321005
95RUNX2_22187159_ChIP-Seq_PCA_Human1.24850459
96CMYC_18555785_Chip-Seq_ESCs_Mouse1.24515119
97PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23991575
98SUZ12_18555785_Chip-Seq_ESCs_Mouse1.21503458
99NFE2_27457419_Chip-Seq_LIVER_Mouse1.21008602
100NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20680940
101ESR1_20079471_ChIP-ChIP_T-47D_Human1.19432641
102TCF4_22108803_ChIP-Seq_LS180_Human1.19211529
103CTBP1_25329375_ChIP-Seq_LNCAP_Human1.19112959
104CLOCK_20551151_ChIP-Seq_293T_Human1.17811314
105FOXO3_23340844_ChIP-Seq_DLD1_Human1.17200922
106CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.16597551
107TP53_20018659_ChIP-ChIP_R1E_Mouse1.16475886
108STAT3_18555785_Chip-Seq_ESCs_Mouse1.16048730
109PRDM14_20953172_ChIP-Seq_ESCs_Human1.15938372
110TAL1_26923725_Chip-Seq_HPCs_Mouse1.15696152
111SOX2_18555785_Chip-Seq_ESCs_Mouse1.15069942
112BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14415310
113KDM2B_26808549_Chip-Seq_K562_Human1.13104138
114CDX2_22108803_ChIP-Seq_LS180_Human1.12880164
115FLI1_21867929_ChIP-Seq_TH2_Mouse1.12116246
116WT1_19549856_ChIP-ChIP_CCG9911_Human1.11317699
117PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10679047
118RUNX1_27514584_Chip-Seq_MCF-7_Human1.09088540
119TP53_22573176_ChIP-Seq_HFKS_Human1.08846842
120HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08064765
121VDR_24787735_ChIP-Seq_THP-1_Human1.07711892
122P300_18555785_Chip-Seq_ESCs_Mouse1.07044556
123GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06162549
124CBX2_27304074_Chip-Seq_ESCs_Mouse1.06011190
125GATA3_24758297_ChIP-Seq_MCF-7_Human1.05917585
126CRX_20693478_ChIP-Seq_RETINA_Mouse1.05903818
127TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04201693
128TP53_18474530_ChIP-ChIP_U2OS_Human1.04062421
129ISL1_27105846_Chip-Seq_CPCs_Mouse1.03866255
130EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.03756704
131REST_21632747_ChIP-Seq_MESCs_Mouse1.03437081
132SOX9_24532713_ChIP-Seq_HFSC_Mouse1.03061615
133LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02730629
134EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02040538
135BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01600621
136GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99616968
137TCF4_18268006_ChIP-ChIP_LS174T_Human0.99347962
138NMYC_18555785_Chip-Seq_ESCs_Mouse0.99193097
139SOX2_21211035_ChIP-Seq_LN229_Gbm0.99015099
140KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98270614
141STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.98044077
142ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97174318
143DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.97018407
144KLF5_25053715_ChIP-Seq_YYC3_Human0.93818024
145TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.93296581
146SMAD3_21741376_ChIP-Seq_ESCs_Human0.93219647
147SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93207998
148SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92550169
149EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.92112078
150OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90499905
151KDM2B_26808549_Chip-Seq_DND41_Human0.89807143
152MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.87568831
153IKZF1_21737484_ChIP-ChIP_HCT116_Human0.87107938
154SMAD3_21741376_ChIP-Seq_EPCs_Human0.85745791
155KDM2B_26808549_Chip-Seq_JURKAT_Human0.85090879
156KDM2B_26808549_Chip-Seq_SUP-B15_Human0.85090480
157AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84637299
158NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84005711
159DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83468404
160AR_21572438_ChIP-Seq_LNCaP_Human0.82933798
161TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.82704907
162ZFP281_18757296_ChIP-ChIP_E14_Mouse0.81501584
163OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.81182636
164FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.80478870
165FOXM1_26456572_ChIP-Seq_MCF-7_Human0.79254477
166SOX2_20726797_ChIP-Seq_SW620_Human0.77451970
167AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77327854
168TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.77205665
169CTCF_27219007_Chip-Seq_Bcells_Human0.76318310
170CDX2_19796622_ChIP-Seq_MESCs_Mouse0.74887391
171CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.74517083
172ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.74339236
173FOXA2_19822575_ChIP-Seq_HepG2_Human0.74316388

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003879_abnormal_hair_cell8.67498056
2MP0005377_hearing/vestibular/ear_phenot8.63680963
3MP0003878_abnormal_ear_physiology8.63680963
4MP0001485_abnormal_pinna_reflex7.09968705
5MP0000026_abnormal_inner_ear4.26833926
6MP0001963_abnormal_hearing_physiology4.26130428
7MP0002837_dystrophic_cardiac_calcinosis3.75511236
8MP0004084_abnormal_cardiac_muscle3.40682685
9MP0004215_abnormal_myocardial_fiber3.12118396
10MP0008775_abnormal_heart_ventricle3.06665624
11MP0004510_myositis2.98001674
12MP0002909_abnormal_adrenal_gland2.65705944
13MP0002693_abnormal_pancreas_physiology2.58952449
14MP0003195_calcinosis2.36349570
15MP0002653_abnormal_ependyma_morphology2.35139661
16MP0001944_abnormal_pancreas_morphology2.33652371
17MP0004036_abnormal_muscle_relaxation2.19678805
18MP0009046_muscle_twitch2.17953020
19MP0004885_abnormal_endolymph2.06726526
20MP0003941_abnormal_skin_development2.04707734
21MP0009780_abnormal_chondrocyte_physiolo2.04188520
22MP0000566_synostosis2.00973326
23MP0004270_analgesia1.98863584
24MP0001486_abnormal_startle_reflex1.93333598
25MP0003787_abnormal_imprinting1.90489776
26MP0005646_abnormal_pituitary_gland1.90384296
27MP0002638_abnormal_pupillary_reflex1.88484171
28MP0008877_abnormal_DNA_methylation1.84189780
29MP0004085_abnormal_heartbeat1.83330025
30MP0005645_abnormal_hypothalamus_physiol1.82442544
31MP0005379_endocrine/exocrine_gland_phen1.82022584
32MP0000427_abnormal_hair_cycle1.79002853
33MP0000462_abnormal_digestive_system1.78313680
34MP0003122_maternal_imprinting1.74162915
35MP0003880_abnormal_central_pattern1.73970974
36MP0000049_abnormal_middle_ear1.70642639
37MP0005248_abnormal_Harderian_gland1.66719961
38MP0002090_abnormal_vision1.64713638
39MP0000372_irregular_coat_pigmentation1.63648978
40MP0009840_abnormal_foam_cell1.63145489
41MP0002932_abnormal_joint_morphology1.57400184
42MP0000013_abnormal_adipose_tissue1.53509108
43MP0000751_myopathy1.52704793
44MP0009745_abnormal_behavioral_response1.49832287
45MP0002078_abnormal_glucose_homeostasis1.48788019
46MP0005551_abnormal_eye_electrophysiolog1.45813875
47MP0010386_abnormal_urinary_bladder1.45383755
48MP0005508_abnormal_skeleton_morphology1.44859778
49MP0001756_abnormal_urination1.44557311
50MP0005220_abnormal_exocrine_pancreas1.42126678
51MP0003137_abnormal_impulse_conducting1.40760242
52MP0002249_abnormal_larynx_morphology1.39317682
53MP0002127_abnormal_cardiovascular_syste1.37913636
54MP0010234_abnormal_vibrissa_follicle1.35709163
55MP0003045_fibrosis1.35582778
56MP0010678_abnormal_skin_adnexa1.35303052
57MP0004264_abnormal_extraembryonic_tissu1.35065179
58MP0003942_abnormal_urinary_system1.33272350
59MP0000383_abnormal_hair_follicle1.32236960
60MP0003938_abnormal_ear_development1.30932699
61MP0006072_abnormal_retinal_apoptosis1.30834583
62MP0002089_abnormal_postnatal_growth/wei1.27352383
63MP0001501_abnormal_sleep_pattern1.26551557
64MP0000534_abnormal_ureter_morphology1.25669390
65MP0005623_abnormal_meninges_morphology1.23307182
66MP0002064_seizures1.22723905
67MP0005620_abnormal_muscle_contractility1.21252157
68MP0008872_abnormal_physiological_respon1.20773730
69MP0001661_extended_life_span1.20619166
70MP0002972_abnormal_cardiac_muscle1.20544507
71MP0000569_abnormal_digit_pigmentation1.20440509
72MP0000230_abnormal_systemic_arterial1.20357930
73MP0006276_abnormal_autonomic_nervous1.20011045
74MP0002876_abnormal_thyroid_physiology1.19832568
75MP0004742_abnormal_vestibular_system1.16701702
76MP0001984_abnormal_olfaction1.16117138
77MP0004134_abnormal_chest_morphology1.15351725
78MP0003172_abnormal_lysosome_physiology1.14923437
79MP0000579_abnormal_nail_morphology1.14620464
80MP0001849_ear_inflammation1.13358729
81MP0004130_abnormal_muscle_cell1.12226930
82MP0002009_preneoplasia1.10798109
83MP0004484_altered_response_of1.09697364
84MP0003705_abnormal_hypodermis_morpholog1.08455159
85MP0008057_abnormal_DNA_replication1.07018978
86MP0002557_abnormal_social/conspecific_i1.05922564
87MP0003950_abnormal_plasma_membrane1.05026242
88MP0003635_abnormal_synaptic_transmissio1.03591276
89MP0002102_abnormal_ear_morphology1.02596287
90MP0001879_abnormal_lymphatic_vessel1.02238612
91MP0003115_abnormal_respiratory_system1.00483074
92MP0005330_cardiomyopathy0.99051400
93MP0001346_abnormal_lacrimal_gland0.98901649
94MP0001970_abnormal_pain_threshold0.98826742
95MP0002752_abnormal_somatic_nervous0.98704003
96MP0005332_abnormal_amino_acid0.97266971
97MP0002572_abnormal_emotion/affect_behav0.97019896
98MP0002733_abnormal_thermal_nociception0.96131958
99MP0000762_abnormal_tongue_morphology0.95591645
100MP0009384_cardiac_valve_regurgitation0.95498204
101MP0003633_abnormal_nervous_system0.93752381
102MP0002106_abnormal_muscle_physiology0.93072157
103MP0004142_abnormal_muscle_tone0.92928129
104MP0002734_abnormal_mechanical_nocicepti0.91836429
105MP0000749_muscle_degeneration0.91515213
106MP0005253_abnormal_eye_physiology0.91040652
107MP0003953_abnormal_hormone_level0.89949269
108MP0002163_abnormal_gland_morphology0.88999378
109MP0000163_abnormal_cartilage_morphology0.88467927
110MP0002115_abnormal_skeleton_extremities0.87233739
111MP0005448_abnormal_energy_balance0.86816628
112MP0002282_abnormal_trachea_morphology0.86537385
113MP0002277_abnormal_respiratory_mucosa0.86119929
114MP0002063_abnormal_learning/memory/cond0.84038999
115MP0010030_abnormal_orbit_morphology0.83660957
116MP0001286_abnormal_eye_development0.83204067
117MP0001765_abnormal_ion_homeostasis0.82661321
118MP0004147_increased_porphyrin_level0.80550631
119MP0004043_abnormal_pH_regulation0.80190602
120MP0003718_maternal_effect0.79938913
121MP0010329_abnormal_lipoprotein_level0.78860265
122MP0006036_abnormal_mitochondrial_physio0.78459212
123MP0004924_abnormal_behavior0.78387477
124MP0005386_behavior/neurological_phenoty0.78387477
125MP0000428_abnormal_craniofacial_morphol0.77684423
126MP0002116_abnormal_craniofacial_bone0.75917546
127MP0002168_other_aberrant_phenotype0.75860022
128MP0004272_abnormal_basement_membrane0.74910389
129MP0005174_abnormal_tail_pigmentation0.74847313
130MP0005187_abnormal_penis_morphology0.74477831
131MP0004019_abnormal_vitamin_homeostasis0.73954451
132MP0009053_abnormal_anal_canal0.73840270
133MP0004133_heterotaxia0.73178530
134MP0008438_abnormal_cutaneous_collagen0.72850018
135MP0000747_muscle_weakness0.71576808
136MP0000613_abnormal_salivary_gland0.71234244
137MP0001299_abnormal_eye_distance/0.71157769
138MP0002184_abnormal_innervation0.67295294
139MP0003252_abnormal_bile_duct0.65581406
140MP0002111_abnormal_tail_morphology0.65508002
141MP0002272_abnormal_nervous_system0.64603931
142MP0009250_abnormal_appendicular_skeleto0.64368628
143MP0005390_skeleton_phenotype0.63881993
144MP0002229_neurodegeneration0.60966451
145MP0002109_abnormal_limb_morphology0.59734621
146MP0005195_abnormal_posterior_eye0.58292180
147MP0000767_abnormal_smooth_muscle0.53726846
148MP0004381_abnormal_hair_follicle0.53337490
149MP0002882_abnormal_neuron_morphology0.51337537
150MP0000778_abnormal_nervous_system0.48433600
151MP0002113_abnormal_skeleton_development0.48050685
152MP0001958_emphysema0.47165140
153MP0008770_decreased_survivor_rate0.46860672
154MP0001340_abnormal_eyelid_morphology0.46719811
155MP0003136_yellow_coat_color0.46058715
156MP0002233_abnormal_nose_morphology0.44554721
157MP0003755_abnormal_palate_morphology0.43398354
158MP0002796_impaired_skin_barrier0.43043219
159MP0003119_abnormal_digestive_system0.41047907
160MP0004859_abnormal_synaptic_plasticity0.39273333
161MP0002938_white_spotting0.38405791
162MP0000537_abnormal_urethra_morphology0.37812808
163MP0003453_abnormal_keratinocyte_physiol0.37120060
164MP0000432_abnormal_head_morphology0.36341019
165MP0003861_abnormal_nervous_system0.36289741
166MP0001502_abnormal_circadian_rhythm0.35988502
167MP0003283_abnormal_digestive_organ0.35840564
168MP0003567_abnormal_fetal_cardiomyocyte0.35830458
169MP0000631_abnormal_neuroendocrine_gland0.35314707
170MP0000467_abnormal_esophagus_morphology0.34830372
171MP0003935_abnormal_craniofacial_develop0.33674304
172MP0002928_abnormal_bile_duct0.33382942
173MP0002067_abnormal_sensory_capabilities0.32175409
174MP0005076_abnormal_cell_differentiation0.32128339
175MP0003566_abnormal_cell_adhesion0.32105759
176MP0002933_joint_inflammation0.31528696
177MP0001175_abnormal_lung_morphology0.31466670
178MP0002697_abnormal_eye_size0.30954411
179MP0002060_abnormal_skin_morphology0.29883843
180MP0004145_abnormal_muscle_electrophysio0.29860894
181MP0001915_intracranial_hemorrhage0.29806999
182MP0002751_abnormal_autonomic_nervous0.29574620
183MP0002085_abnormal_embryonic_tissue0.29018696
184MP0001943_abnormal_respiration0.28632859
185MP0000733_abnormal_muscle_development0.28482130
186MP0002084_abnormal_developmental_patter0.27797429

Predicted human phenotypes

RankGene SetZ-score
1Epiphyseal dysplasia (HP:0002656)8.90604985
2Mixed hearing impairment (HP:0000410)8.27254831
3Aplasia/Hypoplasia of the pubic bone (HP:0009104)7.79999574
4Hypoplastic ischia (HP:0003175)6.73609539
5Late onset (HP:0003584)6.50467734
6Anomalous pulmonary venous return (HP:0010772)6.45154107
7Abnormality of endocrine pancreas physiology (HP:0012093)6.11798442
8Abnormality of the pancreatic islet cells (HP:0006476)6.11798442
9Ketoacidosis (HP:0001993)6.00639056
10Abnormality of the ischium (HP:0003174)5.88234686
11Unilateral renal agenesis (HP:0000122)5.78500144
12Abnormality of the pulmonary veins (HP:0011718)5.63680447
13Bilateral microphthalmos (HP:0007633)5.47381850
14Abnormality of the pubic bones (HP:0003172)5.12788020
15Vitreoretinal degeneration (HP:0000655)4.83157310
16Severe Myopia (HP:0011003)4.64995663
17Bell-shaped thorax (HP:0001591)4.58254608
18Aplasia/Hypoplasia of the fovea (HP:0008060)4.50422488
19Hypoplasia of the fovea (HP:0007750)4.50422488
20Enlarged epiphyses (HP:0010580)4.42933122
21Synostosis involving the elbow (HP:0003938)4.35378842
22Humeroradial synostosis (HP:0003041)4.35378842
23Abnormal vertebral ossification (HP:0100569)4.29534590
24Abnormality of the calf musculature (HP:0001430)4.26761083
25Vertebral clefting (HP:0008428)4.23491697
26Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)4.15153863
27Absent epiphyses (HP:0010577)4.15153863
28Congenital sensorineural hearing impairment (HP:0008527)4.03236335
29Bundle branch block (HP:0011710)4.03068978
30Irregular epiphyses (HP:0010582)3.99114905
31Mild short stature (HP:0003502)3.80963881
32Abnormality of the intervertebral disk (HP:0005108)3.66800592
33Ketosis (HP:0001946)3.65771856
34Agitation (HP:0000713)3.65716299
35Hyperglycemia (HP:0003074)3.64517142
36Fused cervical vertebrae (HP:0002949)3.63583999
37Abnormality of the fovea (HP:0000493)3.61961374
38Oligodactyly (HP:0012165)3.49252049
39Hemiparesis (HP:0001269)3.46759385
40Lip pit (HP:0100267)3.42679810
41Right ventricular cardiomyopathy (HP:0011663)3.28867685
42Protuberant abdomen (HP:0001538)3.25842236
43Congenital malformation of the right heart (HP:0011723)3.17154187
44Double outlet right ventricle (HP:0001719)3.17154187
45Intestinal atresia (HP:0011100)3.11750867
46Aplasia/Hypoplasia of the macula (HP:0008059)3.11009570
47Insulin-resistant diabetes mellitus (HP:0000831)3.07843069
48Gaze-evoked nystagmus (HP:0000640)3.06416435
49Insulin resistance (HP:0000855)3.03324448
50Glossoptosis (HP:0000162)3.01127734
51Retinal atrophy (HP:0001105)3.00719342
52Multifactorial inheritance (HP:0001426)3.00148194
53Arterial tortuosity (HP:0005116)2.99489350
54Ventricular tachycardia (HP:0004756)2.95269021
55Calf muscle hypertrophy (HP:0008981)2.94138670
56Recurrent corneal erosions (HP:0000495)2.93880388
57Aplasia/Hypoplasia affecting the retina (HP:0008061)2.92977945
58Sprengel anomaly (HP:0000912)2.92035576
59Hyperinsulinemic hypoglycemia (HP:0000825)2.91246382
60Hypoglycemic coma (HP:0001325)2.90299146
61Osteoarthritis (HP:0002758)2.88052410
62Medial flaring of the eyebrow (HP:0010747)2.87962904
63Exostoses (HP:0100777)2.87628584
64Syncope (HP:0001279)2.87603644
65Absent eyelashes (HP:0000561)2.82696654
66Abnormality of midbrain morphology (HP:0002418)2.79792504
67Molar tooth sign on MRI (HP:0002419)2.79792504
68Synostosis of carpal bones (HP:0005048)2.72498201
69Platyspondyly (HP:0000926)2.72317390
70Hypoglycemic seizures (HP:0002173)2.62756352
71Partial duplication of thumb phalanx (HP:0009944)2.60400977
72Vascular tortuosity (HP:0004948)2.58783238
73Morphological abnormality of the middle ear (HP:0008609)2.57819603
74Large for gestational age (HP:0001520)2.57632839
75Muscle hypertrophy of the lower extremities (HP:0008968)2.56787002
76Renal dysplasia (HP:0000110)2.56783427
77Febrile seizures (HP:0002373)2.55317162
78Atrial fibrillation (HP:0005110)2.55212766
79Progressive inability to walk (HP:0002505)2.54872457
80Sudden death (HP:0001699)2.52740941
81Meningocele (HP:0002435)2.51949152
82Aplasia involving bones of the upper limbs (HP:0009823)2.51494695
83Aplasia of the phalanges of the hand (HP:0009802)2.51494695
84Aplasia involving bones of the extremities (HP:0009825)2.51494695
85Abnormality of the vitreous humor (HP:0004327)2.50293019
86Aplasia/Hypoplasia involving the pelvis (HP:0009103)2.46871632
87Slender build (HP:0001533)2.45557098
88Genu varum (HP:0002970)2.44667171
89Hypomagnesemia (HP:0002917)2.44664554
90Alacrima (HP:0000522)2.44433224
91Abnormal auditory evoked potentials (HP:0006958)2.43408113
92Primary atrial arrhythmia (HP:0001692)2.42408826
93Petechiae (HP:0000967)2.41401330
94Ventricular fibrillation (HP:0001663)2.39722072
95Increased CSF protein (HP:0002922)2.38301930
96Flared metaphyses (HP:0003015)2.38191182
97Aplasia/Hypoplasia of the tibia (HP:0005772)2.34466225
98Flattened epiphyses (HP:0003071)2.34176077
99Vascular calcification (HP:0004934)2.33081039
100Orthostatic hypotension (HP:0001278)2.30175849
101Congenital primary aphakia (HP:0007707)2.28866517
102Gait imbalance (HP:0002141)2.28314725
103Left ventricular hypertrophy (HP:0001712)2.28018692
104Partial duplication of the phalanx of hand (HP:0009999)2.27541877
105Zonular cataract (HP:0010920)2.26172089
106Ventricular arrhythmia (HP:0004308)2.25360228
107Ectopic anus (HP:0004397)2.24661876
108Rhizomelia (HP:0008905)2.23578725
109Supraventricular tachycardia (HP:0004755)2.22673262
110Morphological abnormality of the inner ear (HP:0011390)2.20896881
111Vertebral arch anomaly (HP:0008438)2.19418330
112Alopecia of scalp (HP:0002293)2.19154894
113Attenuation of retinal blood vessels (HP:0007843)2.18222707
114Epileptiform EEG discharges (HP:0011182)2.16745270
115Supraventricular arrhythmia (HP:0005115)2.15649998
116Abnormality of vitamin B metabolism (HP:0004340)2.13693274
117EEG with generalized epileptiform discharges (HP:0011198)2.13271670
118Abnormality of the lacrimal duct (HP:0011481)2.12524074
119Proximal tubulopathy (HP:0000114)2.09871198
120Abnormal pancreas size (HP:0012094)2.07216038
121Restlessness (HP:0000711)2.07112447
122Cardiovascular calcification (HP:0011915)2.07016347
123Heart block (HP:0012722)2.06438951
124Progressive cerebellar ataxia (HP:0002073)2.05683325
125Preauricular pit (HP:0004467)2.03558444
126Periauricular skin pits (HP:0100277)2.03558444
127Hypsarrhythmia (HP:0002521)2.03098335
128Pancreatic islet-cell hyperplasia (HP:0004510)2.02121265
129Hypoplastic ilia (HP:0000946)2.00652024
130Small epiphyses (HP:0010585)2.00526584
131Decreased circulating renin level (HP:0003351)1.99528591
132Inability to walk (HP:0002540)1.97964401
133Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.97275981
134Nephrogenic diabetes insipidus (HP:0009806)1.96159593
135Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.95635149
136Genital tract atresia (HP:0001827)1.95317028
137Hyperlipoproteinemia (HP:0010980)1.94271288
138Oral leukoplakia (HP:0002745)1.93962975
139Bony spicule pigmentary retinopathy (HP:0007737)1.93226301
140Knee flexion contracture (HP:0006380)1.92047501
141Decreased lacrimation (HP:0000633)1.88757022
142Abnormality of urine glucose concentration (HP:0011016)1.86289775
143Glycosuria (HP:0003076)1.86289775
144Prominent supraorbital ridges (HP:0000336)1.86210966
145Abnormality of aromatic amino acid family metabolism (HP:0004338)1.85982352
146Abnormality of the nasolacrimal system (HP:0000614)1.85377039
147Papillary thyroid carcinoma (HP:0002895)1.85265006
148Abnormality of the renal medulla (HP:0100957)1.85057285
149Dysmetric saccades (HP:0000641)1.85020252
150Hyperglycinemia (HP:0002154)1.84851615
151Vaginal atresia (HP:0000148)1.83781048
152Enlarged penis (HP:0000040)1.83428905
153Short hallux (HP:0010109)1.82832082
154Abnormal drinking behavior (HP:0030082)1.82324084
155Polydipsia (HP:0001959)1.82324084
156Carpal synostosis (HP:0009702)1.81751603
157Aplasia of the musculature (HP:0100854)1.81072520
158Abnormality of the salivary glands (HP:0010286)1.79744064
159Prolonged neonatal jaundice (HP:0006579)1.79234114
160Preauricular skin tag (HP:0000384)1.78620341
161Renal agenesis (HP:0000104)1.78463814
162Micromelia (HP:0002983)1.77921372
163Nasolacrimal duct obstruction (HP:0000579)1.77855565
164Nephronophthisis (HP:0000090)1.77622062
165Bicuspid aortic valve (HP:0001647)1.76847286
166Poor coordination (HP:0002370)1.75887831
167Hypothermia (HP:0002045)1.75835396
168Fair hair (HP:0002286)1.75717198
169Short tibia (HP:0005736)1.75674911
170Abnormal EKG (HP:0003115)1.74993297
171Hypoproteinemia (HP:0003075)1.74878834
172Abnormal atrioventricular conduction (HP:0005150)1.74513470
173Nuclear cataract (HP:0100018)1.72913623
174Down-sloping shoulders (HP:0200021)1.72348932
175Delayed epiphyseal ossification (HP:0002663)1.71763797
176Polyphagia (HP:0002591)1.71618988
177Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.71455482
178Aplasia/Hypoplasia of the hallux (HP:0008362)1.71408669
179Symptomatic seizures (HP:0011145)1.71156438
180Hematochezia (HP:0002573)1.71024905
181Generalized myoclonic seizures (HP:0002123)1.70153552
182Abnormality of the renal cortex (HP:0011035)1.69492911
183Hypoplastic pelvis (HP:0008839)1.69446895
184Neonatal short-limb short stature (HP:0008921)1.69224076
185Tongue fasciculations (HP:0001308)1.69080810
186Limited hip movement (HP:0008800)1.67175197
187Hip contracture (HP:0003273)1.66892446
188Spondylolisthesis (HP:0003302)1.64285265
189Skin pits (HP:0100276)1.63009556
190Vertebral fusion (HP:0002948)1.60468373
191Short thorax (HP:0010306)1.60145769
192Plagiocephaly (HP:0001357)1.59560258
193Amniotic constriction ring (HP:0009775)1.57111093
194Abnormality of placental membranes (HP:0011409)1.57111093
195Hemivertebrae (HP:0002937)1.56985953

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK7.16464398
2OBSCN4.38902123
3ACVR1B3.88679423
4MAP4K23.09539981
5LATS12.77234069
6WNK32.68820445
7TRPM72.62035782
8FGFR22.27550910
9MST42.23616089
10DDR214.3891768
11EPHB11.99421947
12FLT31.73954422
13MAP3K121.69397241
14TRIB31.68301230
15DYRK1B1.61423581
16BMPR1B1.59042525
17MYLK1.50579194
18TRIM281.48508436
19ADRBK21.37062911
20FGFR31.36742773
21GRK71.34738397
22UHMK11.34625415
23RIPK11.31125303
24PKN21.30638137
25MAP2K61.27756414
26CAMK2D1.20237077
27EPHA41.17232335
28DAPK21.15913240
29YES11.15218365
30SIK11.14118128
31NTRK11.13942818
32GRK11.12391079
33CASK1.11635134
34MAP3K91.05621709
35AKT31.04866528
36MAPK151.04346527
37CDK61.02875305
38MARK31.00283543
39PINK10.92515000
40ERBB30.91541594
41WNK40.91476517
42PASK0.91433457
43STK240.90559225
44ADRBK10.89639114
45TESK20.88520814
46EPHA30.87054379
47PTK60.86124743
48MAPK130.83218893
49FGFR10.82738012
50CAMK2A0.82519384
51INSRR0.81487592
52STK380.81268577
53ERBB20.81169508
54KSR20.79535194
55NUAK10.78733766
56STK30.75936602
57MAP3K100.74983555
58PAK30.73256067
59PAK40.73204571
60MAP3K130.73193362
61PRKAA20.71774384
62TAOK10.71037935
63ICK0.70434271
64STK390.70428634
65NLK0.70407386
66RPS6KL10.70288699
67RPS6KC10.70288699
68LATS20.67872339
69SGK20.67209446
70RIPK40.65721428
71PIK3CG0.65645992
72TAF10.64966191
73CAMK10.64834599
74CSNK1A1L0.61982953
75OXSR10.60898689
76HIPK20.58585597
77IRAK10.58516635
78PRKD30.58418042
79RET0.58100290
80RPS6KA60.57328566
81TNIK0.56581983
82EPHB20.56388315
83PRKG10.56116730
84PRKCG0.56056331
85LRRK20.54027671
86PNCK0.52629903
87BMPR20.52341350
88MAP3K20.52251427
89ERBB40.52006084
90GRK50.51217850
91TEC0.51114577
92MAP2K70.49777510
93BMX0.47862334
94MAP3K40.47648463
95WNK10.46653141
96NTRK30.45921210
97FER0.45521325
98PDGFRA0.44609307
99CAMK1G0.44417049
100PRKAA10.43261791
101PAK60.43092894
102PRKACA0.41939439
103ROCK10.41902979
104MAP3K50.41389364
105NME10.40447585
106PTK2B0.40443544
107DMPK0.40029839
108BRD40.39787302
109EEF2K0.39658441
110TIE10.39429030
111ARAF0.37151642
112PRKACB0.36615093
113RPS6KA20.36421863
114KSR10.36178171
115TGFBR20.35961445
116STK110.35291300
117CDK50.34849355
118CSNK1G10.34821066
119ITK0.34668620
120FGFR40.33989548
121MET0.32134508
122CAMK2G0.31752462
123LMTK20.31432680
124MKNK20.31392706
125CDK30.31190693
126RPS6KA10.30752234
127TGFBR10.30748922
128PTK20.30251133
129CSNK1D0.30221620
130MKNK10.30213307
131JAK20.29674500
132SGK2230.29141874
133SGK4940.29141874
134DAPK10.28494419
135MAP2K10.28432905
136PAK20.28041876
137CAMK2B0.27949127
138PRKCZ0.27067287
139CDK190.26890195
140SCYL20.26549460
141FGR0.26508573
142ABL10.26143710
143DYRK1A0.26126729
144ILK0.25792532
145MELK0.25632027
146CSNK1G30.24827851
147CSNK1G20.23706077
148ROCK20.22436228
149STK38L0.22312897
150DAPK30.21040022
151PHKG20.19551687
152PHKG10.19551687
153PDK10.19234505
154PRKCI0.19225562
155MAP2K40.18784712
156PDGFRB0.18585633
157MINK10.17646111
158PDPK10.16484534
159PLK20.15592183
160PRKCE0.15293158
161MAP3K70.15289358
162ALK0.15223409

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.72111055
2Other types of O-glycan biosynthesis_Homo sapiens_hsa005145.55195833
3Notch signaling pathway_Homo sapiens_hsa043303.84604763
4Hippo signaling pathway_Homo sapiens_hsa043903.25390415
5Basal cell carcinoma_Homo sapiens_hsa052173.16607480
6Dorso-ventral axis formation_Homo sapiens_hsa043203.07969659
7Protein digestion and absorption_Homo sapiens_hsa049743.06306923
8Insulin secretion_Homo sapiens_hsa049112.84830116
9ECM-receptor interaction_Homo sapiens_hsa045122.63634217
10TGF-beta signaling pathway_Homo sapiens_hsa043502.61175772
11Butanoate metabolism_Homo sapiens_hsa006502.46602747
12Circadian entrainment_Homo sapiens_hsa047131.95416226
13Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.91929419
14Collecting duct acid secretion_Homo sapiens_hsa049661.91795738
15Melanogenesis_Homo sapiens_hsa049161.87917005
16Wnt signaling pathway_Homo sapiens_hsa043101.84245317
17Vitamin B6 metabolism_Homo sapiens_hsa007501.72642280
18Sphingolipid metabolism_Homo sapiens_hsa006001.67786015
19Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.63058233
20Sulfur metabolism_Homo sapiens_hsa009201.59200345
21Proteoglycans in cancer_Homo sapiens_hsa052051.57697713
22Lysine degradation_Homo sapiens_hsa003101.57045806
23Circadian rhythm_Homo sapiens_hsa047101.56951121
24Focal adhesion_Homo sapiens_hsa045101.55409737
25Ether lipid metabolism_Homo sapiens_hsa005651.51659678
26Tight junction_Homo sapiens_hsa045301.50750417
27Renin secretion_Homo sapiens_hsa049241.49249484
28Chronic myeloid leukemia_Homo sapiens_hsa052201.48395164
29Axon guidance_Homo sapiens_hsa043601.46132328
30Phototransduction_Homo sapiens_hsa047441.41921192
31Bladder cancer_Homo sapiens_hsa052191.41016092
32Adherens junction_Homo sapiens_hsa045201.39364723
33Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.38090376
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.35848754
35Fatty acid biosynthesis_Homo sapiens_hsa000611.32579289
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30935606
37Cardiac muscle contraction_Homo sapiens_hsa042601.30774418
38Serotonergic synapse_Homo sapiens_hsa047261.30439989
39Fatty acid elongation_Homo sapiens_hsa000621.29929271
40Synaptic vesicle cycle_Homo sapiens_hsa047211.29616463
41Leukocyte transendothelial migration_Homo sapiens_hsa046701.27955524
42ErbB signaling pathway_Homo sapiens_hsa040121.25769032
43Vascular smooth muscle contraction_Homo sapiens_hsa042701.25390407
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.25336232
45GABAergic synapse_Homo sapiens_hsa047271.22847495
46Salivary secretion_Homo sapiens_hsa049701.21213787
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18860759
48Colorectal cancer_Homo sapiens_hsa052101.18834674
49Calcium signaling pathway_Homo sapiens_hsa040201.18478151
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18322117
51Regulation of autophagy_Homo sapiens_hsa041401.18202650
52Nicotine addiction_Homo sapiens_hsa050331.17490108
53Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.17392752
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.12906018
55Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.12230722
56Pancreatic secretion_Homo sapiens_hsa049721.10244781
57Estrogen signaling pathway_Homo sapiens_hsa049151.08847242
58Olfactory transduction_Homo sapiens_hsa047401.05514131
59Morphine addiction_Homo sapiens_hsa050321.04257734
60Protein export_Homo sapiens_hsa030601.03775549
61Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.03663349
62Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.03275462
63Selenocompound metabolism_Homo sapiens_hsa004501.03002211
64Long-term depression_Homo sapiens_hsa047301.02943967
65cAMP signaling pathway_Homo sapiens_hsa040241.02834292
66Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.02556510
67Hedgehog signaling pathway_Homo sapiens_hsa043401.01082061
68AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.99200336
69MicroRNAs in cancer_Homo sapiens_hsa052060.91844762
70Taste transduction_Homo sapiens_hsa047420.91022202
71Glioma_Homo sapiens_hsa052140.90619036
72Tryptophan metabolism_Homo sapiens_hsa003800.90584587
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.89381798
74Melanoma_Homo sapiens_hsa052180.87374389
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86653755
76Dilated cardiomyopathy_Homo sapiens_hsa054140.86196387
77Oxytocin signaling pathway_Homo sapiens_hsa049210.86172916
78Pancreatic cancer_Homo sapiens_hsa052120.85700529
79Amoebiasis_Homo sapiens_hsa051460.85672105
80Pathways in cancer_Homo sapiens_hsa052000.84203653
81Renal cell carcinoma_Homo sapiens_hsa052110.82920214
82Endometrial cancer_Homo sapiens_hsa052130.82692127
83Inositol phosphate metabolism_Homo sapiens_hsa005620.82301820
84Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.81818488
85Propanoate metabolism_Homo sapiens_hsa006400.81729295
86Small cell lung cancer_Homo sapiens_hsa052220.81136751
87Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80667328
88PI3K-Akt signaling pathway_Homo sapiens_hsa041510.80046139
89Mineral absorption_Homo sapiens_hsa049780.79836262
90Fatty acid metabolism_Homo sapiens_hsa012120.79521936
91Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.78312315
92Linoleic acid metabolism_Homo sapiens_hsa005910.78277943
93Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.78136198
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.77409235
95alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.76216401
96Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.76011099
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.74871883
98Starch and sucrose metabolism_Homo sapiens_hsa005000.74454005
99Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74356291
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.73588187
101Glucagon signaling pathway_Homo sapiens_hsa049220.73573920
102Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73051013
103Prolactin signaling pathway_Homo sapiens_hsa049170.72389237
104Platelet activation_Homo sapiens_hsa046110.71611473
105ABC transporters_Homo sapiens_hsa020100.69167230
106Retinol metabolism_Homo sapiens_hsa008300.66601278
107Phenylalanine metabolism_Homo sapiens_hsa003600.65623652
108Nitrogen metabolism_Homo sapiens_hsa009100.65546879
109Rap1 signaling pathway_Homo sapiens_hsa040150.65511701
110GnRH signaling pathway_Homo sapiens_hsa049120.64461041
111Choline metabolism in cancer_Homo sapiens_hsa052310.63976166
112Insulin resistance_Homo sapiens_hsa049310.63366045
113Prostate cancer_Homo sapiens_hsa052150.63274186
114Regulation of actin cytoskeleton_Homo sapiens_hsa048100.62237394
115Type I diabetes mellitus_Homo sapiens_hsa049400.61673518
116Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60044425
117Cocaine addiction_Homo sapiens_hsa050300.58898366
118Thyroid hormone synthesis_Homo sapiens_hsa049180.58009089
119Vibrio cholerae infection_Homo sapiens_hsa051100.57866219
120Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55279778
121N-Glycan biosynthesis_Homo sapiens_hsa005100.54540427
122Toxoplasmosis_Homo sapiens_hsa051450.54366171
123VEGF signaling pathway_Homo sapiens_hsa043700.54299224
124TNF signaling pathway_Homo sapiens_hsa046680.53362584
125Transcriptional misregulation in cancer_Homo sapiens_hsa052020.53176310
126Gastric acid secretion_Homo sapiens_hsa049710.52500892
127Viral myocarditis_Homo sapiens_hsa054160.52034492
128Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51021592
129Histidine metabolism_Homo sapiens_hsa003400.50571809
130Hepatitis C_Homo sapiens_hsa051600.50163213
131Ovarian steroidogenesis_Homo sapiens_hsa049130.49711745
132Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.49304010
133Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49010989
134Insulin signaling pathway_Homo sapiens_hsa049100.48883891
135HTLV-I infection_Homo sapiens_hsa051660.48707464
136Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.48173595
137Primary bile acid biosynthesis_Homo sapiens_hsa001200.47465198
138Steroid hormone biosynthesis_Homo sapiens_hsa001400.46637478
139Oocyte meiosis_Homo sapiens_hsa041140.46320331
140Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.45936697
141FoxO signaling pathway_Homo sapiens_hsa040680.45482126
142Ras signaling pathway_Homo sapiens_hsa040140.45305147
143Amphetamine addiction_Homo sapiens_hsa050310.45081297
144Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.45065124
145Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44618930
146Oxidative phosphorylation_Homo sapiens_hsa001900.43888483
147Thyroid hormone signaling pathway_Homo sapiens_hsa049190.43759832
148Type II diabetes mellitus_Homo sapiens_hsa049300.43737900
149Thyroid cancer_Homo sapiens_hsa052160.43587909
150Prion diseases_Homo sapiens_hsa050200.42871064
151Aldosterone synthesis and secretion_Homo sapiens_hsa049250.42644902
152Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42578814
153mTOR signaling pathway_Homo sapiens_hsa041500.41794958
154Dopaminergic synapse_Homo sapiens_hsa047280.41583782
155MAPK signaling pathway_Homo sapiens_hsa040100.41339395
156Gap junction_Homo sapiens_hsa045400.39097832
157Hepatitis B_Homo sapiens_hsa051610.38909825
158Fatty acid degradation_Homo sapiens_hsa000710.38549260
159Glycosaminoglycan degradation_Homo sapiens_hsa005310.38220472
160Steroid biosynthesis_Homo sapiens_hsa001000.37833777
161beta-Alanine metabolism_Homo sapiens_hsa004100.37732737
162Phospholipase D signaling pathway_Homo sapiens_hsa040720.37549209
163Long-term potentiation_Homo sapiens_hsa047200.37517650
164Bile secretion_Homo sapiens_hsa049760.37361140
165Leishmaniasis_Homo sapiens_hsa051400.37290146
166Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34231219
167Central carbon metabolism in cancer_Homo sapiens_hsa052300.34160166
168Non-small cell lung cancer_Homo sapiens_hsa052230.33625356
169Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32163436
170Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.31820999
171Glutamatergic synapse_Homo sapiens_hsa047240.31787495
172Cholinergic synapse_Homo sapiens_hsa047250.31089565
173Adipocytokine signaling pathway_Homo sapiens_hsa049200.31079627

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