ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	righting reflex (GO:0060013)	8.73654968
2	mechanoreceptor differentiation (GO:0042490)	8.54085604
3	synaptic vesicle exocytosis (GO:0016079)	7.98987955
4	terpenoid biosynthetic process (GO:0016114)	7.58688235
5	sensory perception of sound (GO:0007605)	7.40570398
6	sensory perception of mechanical stimulus (GO:0050954)	7.30936451
7	inner ear morphogenesis (GO:0042472)	6.79378123
8	face development (GO:0060324)	6.63514123
9	retinal metabolic process (GO:0042574)	6.40592793
10	endocardial cushion morphogenesis (GO:0003203)	5.48358188
11	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	5.45997371
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	5.29098712
13	regulation of secondary heart field cardioblast proliferation (GO:0003266)	5.17841754
14	regulation of cardioblast proliferation (GO:0003264)	5.17841754
15	detection of mechanical stimulus (GO:0050982)	4.92737835
16	reflex (GO:0060004)	4.57272511
17	embryonic eye morphogenesis (GO:0048048)	4.52601076
18	mesenchyme morphogenesis (GO:0072132)	4.50902619
19	aorta morphogenesis (GO:0035909)	4.47671689
20	retinal ganglion cell axon guidance (GO:0031290)	4.36786428
21	regulation of chemokine-mediated signaling pathway (GO:0070099)	4.34044648
22	cranial nerve development (GO:0021545)	4.32071017
23	response to gravity (GO:0009629)	4.12624364
24	regulation of transforming growth factor beta2 production (GO:0032909)	4.03895176
25	lateral sprouting from an epithelium (GO:0060601)	3.98842078
26	generation of neurons (GO:0048699)	3.89219765
27	neuromuscular process controlling balance (GO:0050885)	3.87221835
28	regulation of heart morphogenesis (GO:2000826)	3.83584184
29	metanephric mesenchyme development (GO:0072075)	3.77001179
30	planar cell polarity pathway involved in neural tube closure (GO:0090179)	3.71691675
31	bone trabecula formation (GO:0060346)	3.68397366
32	retinoic acid metabolic process (GO:0042573)	3.57032991
33	negative regulation of leukocyte chemotaxis (GO:0002689)	3.55128332
34	morphogenesis of embryonic epithelium (GO:0016331)	3.54686847
35	lung epithelium development (GO:0060428)	3.53817666
36	nephron tubule formation (GO:0072079)	3.42579119
37	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	3.37093714
38	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.35149909
39	dorsal/ventral axis specification (GO:0009950)	3.31086452
40	regulation of cell proliferation involved in heart morphogenesis (GO:2000136)	3.24849256
41	kidney mesenchyme development (GO:0072074)	3.22387327
42	establishment of planar polarity (GO:0001736)	3.16818064
43	establishment of tissue polarity (GO:0007164)	3.16818064
44	cell aggregation (GO:0098743)	3.16781685
45	cartilage condensation (GO:0001502)	3.16781685
46	detection of mechanical stimulus involved in sensory perception (GO:0050974)	3.15724758
47	cochlea morphogenesis (GO:0090103)	3.15481541
48	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	3.14455561
49	cellular response to vitamin D (GO:0071305)	3.11094709
50	inner ear receptor stereocilium organization (GO:0060122)	3.08988165
51	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	3.07020493
52	ectodermal placode formation (GO:0060788)	3.03510043
53	regulation of branching involved in prostate gland morphogenesis (GO:0060687)	3.01265322
54	transmission of nerve impulse (GO:0019226)	3.01126822
55	growth hormone receptor signaling pathway (GO:0060396)	2.93539309
56	citrulline biosynthetic process (GO:0019240)	2.92011876
57	cranial nerve morphogenesis (GO:0021602)	2.91534873
58	regulation of macrophage cytokine production (GO:0010935)	2.91289036
59	nerve development (GO:0021675)	2.91079509
60	middle ear morphogenesis (GO:0042474)	2.90933001
61	type B pancreatic cell proliferation (GO:0044342)	2.90017508
62	outer ear morphogenesis (GO:0042473)	2.86882098
63	cardiac muscle cell proliferation (GO:0060038)	2.86548889
64	glycoprotein catabolic process (GO:0006516)	2.86409360
65	kidney morphogenesis (GO:0060993)	2.83819909
66	regulation of somitogenesis (GO:0014807)	2.80143893
67	inner ear receptor cell development (GO:0060119)	2.79407937
68	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.78426731
69	tight junction assembly (GO:0070830)	2.74331930
70	epithelial cell fate commitment (GO:0072148)	2.69924045
71	glucocorticoid receptor signaling pathway (GO:0042921)	2.67800657
72	pharyngeal system development (GO:0060037)	2.65985381
73	non-canonical Wnt signaling pathway (GO:0035567)	2.64367318
74	regulation of alkaline phosphatase activity (GO:0010692)	2.64212205
75	axon extension (GO:0048675)	2.64109471
76	regulation of establishment of planar polarity (GO:0090175)	2.61422100
77	eye morphogenesis (GO:0048592)	2.60507215
78	notochord development (GO:0030903)	2.60233157
79	cellular response to prostaglandin stimulus (GO:0071379)	2.59398703
80	retinol metabolic process (GO:0042572)	2.57458614
81	mechanosensory behavior (GO:0007638)	2.56063553
82	synaptic vesicle transport (GO:0048489)	2.55634108
83	establishment of synaptic vesicle localization (GO:0097480)	2.55634108
84	protein localization to cell surface (GO:0034394)	2.54452922
85	neuron apoptotic process (GO:0051402)	2.53506184
86	digestive tract morphogenesis (GO:0048546)	2.52431898
87	neuromuscular process (GO:0050905)	2.50552041
88	interleukin-6-mediated signaling pathway (GO:0070102)	2.49309195
89	heart valve morphogenesis (GO:0003179)	2.49219934
90	hippo signaling (GO:0035329)	2.47481116
91	myoblast migration (GO:0051451)	2.47309393
92	neuron fate specification (GO:0048665)	2.47273981
93	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.45831443
94	isoprenoid biosynthetic process (GO:0008299)	2.43411596
95	glutamate secretion (GO:0014047)	2.43341643
96	auditory receptor cell differentiation (GO:0042491)	16.9419608
97	inner ear receptor cell differentiation (GO:0060113)	11.1835326
98	pentose metabolic process (GO:0019321)	11.1156968
99	hair cell differentiation (GO:0035315)	10.9334418
100	diterpenoid biosynthetic process (GO:0016102)	10.4903347

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	3.23826172
2	TRIM28_21343339_ChIP-Seq_HEK293_Human	3.14951601
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.00826736
4	DROSHA_22980978_ChIP-Seq_HELA_Human	2.67851450
5	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.53969890
6	TP53_18474530_ChIP-ChIP_U2OS_Human	2.42183924
7	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.33260952
8	RNF2_18974828_ChIP-Seq_MESCs_Mouse	2.29465400
9	EZH2_18974828_ChIP-Seq_MESCs_Mouse	2.29465400
10	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.23134064
11	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	2.21066908
12	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.14324843
13	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.13337864
14	* ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.11860477
15	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.10415942
16	AR_21572438_ChIP-Seq_LNCaP_Human	2.08562413
17	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.04781256
18	EZH2_27294783_Chip-Seq_ESCs_Mouse	2.01926847
19	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	2.01250498
20	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.97744822
21	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.97028570
22	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.96266709
23	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.86977002
24	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.85965206
25	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.83009925
26	AHR_22903824_ChIP-Seq_MCF-7_Human	1.80074090
27	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.78717843
28	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.78575014
29	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.77087967
30	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.77087967
31	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.68574984
32	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.68574984
33	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.68574984
34	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.65983939
35	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.62668360
36	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.61168243
37	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.58666070
38	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.57084986
39	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.55848242
40	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.52120646
41	VDR_22108803_ChIP-Seq_LS180_Human	1.50316269
42	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.48814643
43	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.47529418
44	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.44066882
45	* WT1_25993318_ChIP-Seq_PODOCYTE_Human	1.43139037
46	GBX2_23144817_ChIP-Seq_PC3_Human	1.41517366
47	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.39125241
48	EGR1_19374776_ChIP-ChIP_THP-1_Human	1.36860291
49	RXR_22108803_ChIP-Seq_LS180_Human	1.36438548
50	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.36010696
51	* PIAS1_25552417_ChIP-Seq_VCAP_Human	1.33912721
52	RING1B_27294783_Chip-Seq_NPCs_Mouse	1.31314532
53	* VDR_24787735_ChIP-Seq_THP-1_Human	1.30556239
54	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.30258500
55	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.29798491
56	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.28931981
57	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.27871329
58	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.26704712
59	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.26638490
60	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.25708126
61	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.23785093
62	* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.21283198
63	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19495566
64	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.18421550
65	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.18285676
66	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.17485689
67	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.17005688
68	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.16349834
69	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.15077609
70	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13141929
71	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.12629301
72	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.12461836
73	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.12272294
74	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.11294764
75	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.09935383
76	P300_19829295_ChIP-Seq_ESCs_Human	1.09743260
77	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.09064280
78	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.06112970
79	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05762932
80	SMAD4_21799915_ChIP-Seq_A2780_Human	1.05505454
81	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.05338957
82	YAP1_20516196_ChIP-Seq_MESCs_Mouse	1.04712451
83	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.04056525
84	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.03982361
85	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.03708183
86	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	1.03445852
87	TCF4_22108803_ChIP-Seq_LS180_Human	1.03312392
88	ISL1_27105846_Chip-Seq_CPCs_Mouse	0.99039133
89	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.98337763
90	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	0.97441388
91	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.97315048
92	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.96776578
93	DMRT1_23473982_ChIP-Seq_TESTES_Mouse	0.95690946
94	CJUN_26792858_Chip-Seq_BT549_Human	0.94936015
95	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.93299053
96	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.92498900
97	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.92498900
98	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.90481030
99	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.90317174
100	KDM2B_26808549_Chip-Seq_K562_Human	0.87693846

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003879_abnormal_hair_cell	9.80155713
2	MP0001485_abnormal_pinna_reflex	8.83541634
3	MP0003878_abnormal_ear_physiology	8.78434222
4	MP0005377_hearing/vestibular/ear_phenot	8.78434222
5	MP0000026_abnormal_inner_ear	4.11678257
6	MP0001963_abnormal_hearing_physiology	3.65730067
7	MP0005248_abnormal_Harderian_gland	3.60067329
8	MP0001486_abnormal_startle_reflex	3.32596641
9	MP0004742_abnormal_vestibular_system	2.77220654
10	MP0003938_abnormal_ear_development	1.62236668
11	MP0003941_abnormal_skin_development	1.47539507
12	MP0006276_abnormal_autonomic_nervous	1.41107541
13	MP0002653_abnormal_ependyma_morphology	1.35490026
14	MP0000566_synostosis	1.22653149
15	MP0001346_abnormal_lacrimal_gland	1.10183315
16	MP0005623_abnormal_meninges_morphology	1.08295212
17	MP0003942_abnormal_urinary_system	0.98325345
18	MP0004885_abnormal_endolymph	0.95979237
19	MP0001849_ear_inflammation	0.93163682
20	MP0010234_abnormal_vibrissa_follicle	0.93008417
21	MP0002282_abnormal_trachea_morphology	0.89225479
22	MP0009780_abnormal_chondrocyte_physiolo	0.88647194
23	MP0001502_abnormal_circadian_rhythm	0.87910666
24	MP0000762_abnormal_tongue_morphology	0.86985061
25	MP0010030_abnormal_orbit_morphology	0.86745640
26	MP0005645_abnormal_hypothalamus_physiol	0.85718466
27	MP0002752_abnormal_somatic_nervous	0.85678185
28	MP0002233_abnormal_nose_morphology	0.80908065
29	MP0000534_abnormal_ureter_morphology	0.80563241
30	MP0000049_abnormal_middle_ear	0.80199571
31	MP0009384_cardiac_valve_regurgitation	0.77433624
32	MP0004134_abnormal_chest_morphology	0.75295250
33	MP0000613_abnormal_salivary_gland	0.72745729
34	MP0002102_abnormal_ear_morphology	0.71090166
35	MP0004272_abnormal_basement_membrane	0.70790974
36	MP0002184_abnormal_innervation	0.70715577
37	MP0002229_neurodegeneration	0.68317159
38	MP0002249_abnormal_larynx_morphology	0.64794079
39	MP0002277_abnormal_respiratory_mucosa	0.64318523
40	MP0003787_abnormal_imprinting	0.59789163
41	MP0001299_abnormal_eye_distance/	0.58771457
42	MP0010678_abnormal_skin_adnexa	0.55876961
43	MP0002882_abnormal_neuron_morphology	0.55618226
44	MP0005076_abnormal_cell_differentiation	0.53802851
45	MP0002272_abnormal_nervous_system	0.53132943
46	MP0002116_abnormal_craniofacial_bone	0.51952263
47	MP0001286_abnormal_eye_development	0.50915771
48	MP0002933_joint_inflammation	0.50793898
49	MP0010352_gastrointestinal_tract_polyps	0.49493634
50	MP0004859_abnormal_synaptic_plasticity	0.48102994
51	MP0000163_abnormal_cartilage_morphology	0.46633961
52	MP0002067_abnormal_sensory_capabilities	0.46617003
53	MP0003755_abnormal_palate_morphology	0.46558689
54	MP0009250_abnormal_appendicular_skeleto	0.45184500
55	MP0003123_paternal_imprinting	0.44370448
56	MP0003045_fibrosis	0.41398362
57	MP0002089_abnormal_postnatal_growth/wei	0.41067057
58	MP0009053_abnormal_anal_canal	0.40153717
59	MP0002115_abnormal_skeleton_extremities	0.38133982
60	MP0003115_abnormal_respiratory_system	0.37422612
61	MP0002932_abnormal_joint_morphology	0.37027832
62	MP0001270_distended_abdomen	0.34831189
63	MP0001340_abnormal_eyelid_morphology	0.34826180
64	MP0000631_abnormal_neuroendocrine_gland	0.34275395
65	MP0008789_abnormal_olfactory_epithelium	0.33766903
66	MP0000383_abnormal_hair_follicle	0.33125576
67	MP0002109_abnormal_limb_morphology	0.32560041
68	MP0003935_abnormal_craniofacial_develop	0.32341954
69	MP0000733_abnormal_muscle_development	0.31621221
70	MP0005508_abnormal_skeleton_morphology	0.30598789
71	MP0009046_muscle_twitch	0.29286948
72	MP0000432_abnormal_head_morphology	0.27765217
73	MP0001177_atelectasis	0.27398159
74	MP0003121_genomic_imprinting	0.24657828
75	MP0003119_abnormal_digestive_system	0.24544358
76	MP0004270_analgesia	0.24492302
77	MP0003300_gastrointestinal_ulcer	0.23705985
78	MP0001943_abnormal_respiration	0.23078130
79	MP0000428_abnormal_craniofacial_morphol	0.22612411
80	MP0002113_abnormal_skeleton_development	0.21891991
81	MP0003566_abnormal_cell_adhesion	0.21781395
82	MP0005187_abnormal_penis_morphology	0.19747863
83	MP0000467_abnormal_esophagus_morphology	0.19516967
84	MP0005408_hypopigmentation	0.19066131
85	MP0002168_other_aberrant_phenotype	0.19010961
86	MP0002066_abnormal_motor_capabilities/c	0.18692183
87	MP0002751_abnormal_autonomic_nervous	0.18620104
88	MP0003122_maternal_imprinting	0.18574829
89	MP0005171_absent_coat_pigmentation	0.18445529
90	MP0002111_abnormal_tail_morphology	0.18325497
91	MP0003705_abnormal_hypodermis_morpholog	0.17614600
92	MP0005195_abnormal_posterior_eye	0.16272098
93	MP0003011_delayed_dark_adaptation	0.15844852
94	MP0003635_abnormal_synaptic_transmissio	0.15836351
95	MP0000778_abnormal_nervous_system	0.15625175
96	MP0003861_abnormal_nervous_system	0.15185193
97	MP0002177_abnormal_outer_ear	0.14223736
98	MP0004264_abnormal_extraembryonic_tissu	0.14209648
99	MP0002081_perinatal_lethality	0.13615363
100	MP0000639_abnormal_adrenal_gland	0.13202697

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Epiphyseal dysplasia (HP:0002656)	9.63168831
2	Vitreoretinal degeneration (HP:0000655)	8.11861044
3	Irregular epiphyses (HP:0010582)	6.64026849
4	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	6.44768213
5	Hypoplastic ischia (HP:0003175)	6.01396582
6	Severe Myopia (HP:0011003)	5.70052013
7	Congenital sensorineural hearing impairment (HP:0008527)	5.68981467
8	Abnormality of the ischium (HP:0003174)	5.25470658
9	Lip pit (HP:0100267)	4.92695426
10	Mild short stature (HP:0003502)	4.72040420
11	Mixed hearing impairment (HP:0000410)	4.56340001
12	Abnormality of the pubic bones (HP:0003172)	4.41522813
13	Flattened epiphyses (HP:0003071)	3.83135341
14	Genu varum (HP:0002970)	3.50674428
15	Abnormality of the vitreous humor (HP:0004327)	3.44672582
16	Midline defect of the nose (HP:0004122)	3.39828017
17	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	3.39418657
18	Absent epiphyses (HP:0010577)	3.39418657
19	Osteoarthritis (HP:0002758)	3.38120120
20	Arterial tortuosity (HP:0005116)	3.34067399
21	Vertebral clefting (HP:0008428)	3.19078912
22	Optic nerve hypoplasia (HP:0000609)	3.16433896
23	Small epiphyses (HP:0010585)	3.13128329
24	Morphological abnormality of the middle ear (HP:0008609)	3.09825884
25	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.89122702
26	Vascular tortuosity (HP:0004948)	2.88433638
27	Alacrima (HP:0000522)	2.84102146
28	Bell-shaped thorax (HP:0001591)	2.78360971
29	Hepatoblastoma (HP:0002884)	2.61210015
30	Delayed epiphyseal ossification (HP:0002663)	2.58425651
31	Aplasia involving bones of the extremities (HP:0009825)	2.58382249
32	Aplasia involving bones of the upper limbs (HP:0009823)	2.58382249
33	Aplasia of the phalanges of the hand (HP:0009802)	2.58382249
34	Protuberant abdomen (HP:0001538)	2.49450757
35	Abnormality of the lacrimal duct (HP:0011481)	2.46243038
36	Abnormality of incisor morphology (HP:0011063)	2.37257885
37	Enlarged epiphyses (HP:0010580)	2.34684190
38	Platyspondyly (HP:0000926)	2.31260230
39	Decreased lacrimation (HP:0000633)	2.24628850
40	Micromelia (HP:0002983)	2.16509404
41	Exostoses (HP:0100777)	2.14692481
42	Long clavicles (HP:0000890)	2.13002064
43	Absent eyelashes (HP:0000561)	2.12007720
44	Morphological abnormality of the inner ear (HP:0011390)	2.10770762
45	Abnormality of the nasolacrimal system (HP:0000614)	2.09248905
46	Selective tooth agenesis (HP:0001592)	2.07100731
47	Synostosis of carpal bones (HP:0005048)	2.05599576
48	Neonatal short-limb short stature (HP:0008921)	2.04475605
49	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.03648572
50	Abnormal auditory evoked potentials (HP:0006958)	11.3683590
51	Camptodactyly of toe (HP:0001836)	1.99704691
52	Glossoptosis (HP:0000162)	1.98399554
53	Retinal detachment (HP:0000541)	1.98186368
54	Abnormality of the vertebral endplates (HP:0005106)	1.96448248
55	Aplasia/Hypoplasia involving the pelvis (HP:0009103)	1.95678369
56	Metaphyseal dysplasia (HP:0100255)	1.95081627
57	Shallow orbits (HP:0000586)	1.94661957
58	Nasolacrimal duct obstruction (HP:0000579)	1.93754564
59	Long toe (HP:0010511)	1.92810849
60	Bilateral microphthalmos (HP:0007633)	1.92040582
61	Down-sloping shoulders (HP:0200021)	1.89683469
62	Sprengel anomaly (HP:0000912)	1.87701598
63	Spondylolisthesis (HP:0003302)	1.85613849
64	Bicornuate uterus (HP:0000813)	1.85198252
65	Limited hip movement (HP:0008800)	1.82442999
66	Abnormality of the labia majora (HP:0012881)	1.82142118
67	Hip contracture (HP:0003273)	1.79557842
68	Cupped ribs (HP:0000887)	1.79307243
69	Pili torti (HP:0003777)	1.78404401
70	Vertebral hypoplasia (HP:0008417)	1.74202669
71	Aplasia/Hypoplasia of the vertebrae (HP:0008515)	1.74202669
72	Recurrent corneal erosions (HP:0000495)	1.72227729
73	Pterygium (HP:0001059)	1.70972509
74	Septo-optic dysplasia (HP:0100842)	1.69376302
75	Short palm (HP:0004279)	1.68155211
76	Cervical subluxation (HP:0003308)	1.68009371
77	Hypoplastic labia majora (HP:0000059)	1.66792739
78	Rhizomelia (HP:0008905)	1.62915648
79	Shawl scrotum (HP:0000049)	1.60849022
80	Abnormality involving the epiphyses of the lower limbs (HP:0006500)	1.60138142
81	Abnormality of femoral epiphyses (HP:0006499)	1.60138142
82	Genu valgum (HP:0002857)	1.56255538
83	Germ cell neoplasia (HP:0100728)	1.55813987
84	Preauricular pit (HP:0004467)	1.54621330
85	Periauricular skin pits (HP:0100277)	1.54621330
86	Retinopathy (HP:0000488)	1.53623417
87	Abnormal vertebral ossification (HP:0100569)	1.52851262
88	Renal dysplasia (HP:0000110)	1.52492209
89	Flat acetabular roof (HP:0003180)	1.49530920
90	Abnormality of the salivary glands (HP:0010286)	1.47313442
91	Anophthalmia (HP:0000528)	1.46940233
92	Abdominal distention (HP:0003270)	1.46044651
93	Preauricular skin tag (HP:0000384)	1.46020094
94	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.45865415
95	Cupped ear (HP:0000378)	1.45011896
96	Choanal stenosis (HP:0000452)	1.43968378
97	Abnormality of the epiphysis of the femoral head (HP:0010574)	1.42846461
98	Knee flexion contracture (HP:0006380)	1.40268552
99	Flared metaphyses (HP:0003015)	1.39857757
100	Omphalocele (HP:0001539)	1.39569477

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	DDR2	7.07831969
2	EPHA2	5.84387016
3	EPHB1	5.04872884
4	EPHA3	4.49364352
5	LATS1	3.93972853
6	MAPK15	3.20033165
7	TRPM7	2.85812421
8	CASK	2.74975457
9	FGFR4	2.19285894
10	IRAK1	1.96227022
11	STK38L	1.92197797
12	NTRK1	1.85953162
13	FER	1.64515185
14	CSNK1A1L	1.56428372
15	PAK3	1.45810700
16	FGFR3	1.43295248
17	ERBB3	1.31844016
18	DYRK1B	1.30756055
19	RIPK1	1.21384355
20	ERBB2	1.14605824
21	ALK	1.09777018
22	STK3	1.08650095
23	PTK6	1.06418951
24	SIK1	1.03131928
25	MKNK2	1.02616248
26	AKT3	1.02563759
27	MST4	1.00558990
28	MAP3K9	0.95803105
29	NTRK3	0.89773517
30	DMPK	0.89122071
31	PLK2	0.88184899
32	LATS2	0.86573420
33	BCR	0.86471498
34	PRKCE	0.84595538
35	ERBB4	0.82724145
36	NME1	0.79521912
37	CSNK1G3	0.79261869
38	NLK	0.75336754
39	MKNK1	0.73304095
40	PAK4	0.69120997
41	CSNK1G1	0.67427877
42	EPHA4	0.64996345
43	PKN2	0.64371848
44	HIPK2	0.60605837
45	BRD4	0.60576296
46	CDK19	0.57560289
47	CSNK1G2	0.54861121
48	STK39	0.53665125
49	RET	0.53338331
50	DAPK2	0.52505744
51	FGFR1	0.51833570
52	TRIB3	0.51747214
53	MET	0.51462698
54	WNK4	0.48930654
55	STK24	0.47735346
56	PTK2B	0.47168477
57	MARK3	0.46858321
58	NUAK1	0.45939582
59	CDK6	0.44771570
60	YES1	0.44331866
61	CDK5	0.43817224
62	WNK1	0.43504101
63	TESK1	0.42995747
64	ROCK2	0.42264705
65	MAP3K4	0.39529667
66	KSR1	0.39240387
67	MAP3K10	0.36903247
68	IRAK2	0.36813720
69	MAP3K7	0.36465557
70	TAOK1	0.32328488
71	MAP3K12	0.31714009
72	TTN	0.31694456
73	NEK6	0.31426767
74	CDC42BPA	0.31039927
75	SGK2	0.30891837
76	PKN1	0.30749655
77	CAMK1	0.29938724
78	MAP3K1	0.28892609
79	FYN	0.28303314
80	MAP2K7	0.27928139
81	STK38	0.27642201
82	UHMK1	0.27201034
83	BMPR2	0.27197148
84	MAP2K4	0.27057009
85	CAMK1G	0.25580022
86	CAMK4	0.25063246
87	MAP3K2	0.25020416
88	NTRK2	0.24601182
89	RPS6KB2	0.24047947
90	LIMK1	0.23880854
91	EGFR	0.23794427
92	CDK12	0.22510802
93	PAK6	0.21562907
94	JAK1	0.20968128
95	SRC	0.20667147
96	BMX	0.20308940
97	ITK	0.19996433
98	CAMK2B	0.19484837
99	GSK3A	0.18312638
100	CSNK1E	0.17623834

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine metabolism_Homo sapiens_hsa00360	4.99477038
2	Histidine metabolism_Homo sapiens_hsa00340	3.14110843
3	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	3.13769012
4	beta-Alanine metabolism_Homo sapiens_hsa00410	2.54088932
5	ECM-receptor interaction_Homo sapiens_hsa04512	2.42729036
6	Leukocyte transendothelial migration_Homo sapiens_hsa04670	2.29064480
7	Tyrosine metabolism_Homo sapiens_hsa00350	2.14717991
8	Protein digestion and absorption_Homo sapiens_hsa04974	2.06763736
9	Tight junction_Homo sapiens_hsa04530	2.02407772
10	Hippo signaling pathway_Homo sapiens_hsa04390	1.92427481
11	Basal cell carcinoma_Homo sapiens_hsa05217	1.60111517
12	Adherens junction_Homo sapiens_hsa04520	1.58578061
13	Hepatitis C_Homo sapiens_hsa05160	1.47462129
14	Wnt signaling pathway_Homo sapiens_hsa04310	1.45495000
15	Focal adhesion_Homo sapiens_hsa04510	1.38996081
16	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.35873571
17	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.31362603
18	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.30280173
19	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.29183961
20	Axon guidance_Homo sapiens_hsa04360	1.24063388
21	Proteoglycans in cancer_Homo sapiens_hsa05205	1.21246781
22	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.19669662
23	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.18136527
24	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.17621133
25	Melanogenesis_Homo sapiens_hsa04916	1.14043049
26	Notch signaling pathway_Homo sapiens_hsa04330	1.13500641
27	Lysine degradation_Homo sapiens_hsa00310	1.12711713
28	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.08589606
29	Cocaine addiction_Homo sapiens_hsa05030	1.07856224
30	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07459569
31	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.05489717
32	ErbB signaling pathway_Homo sapiens_hsa04012	1.04987561
33	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.99966852
34	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.96792011
35	Vibrio cholerae infection_Homo sapiens_hsa05110	0.96563886
36	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.96106472
37	Estrogen signaling pathway_Homo sapiens_hsa04915	0.93688457
38	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.92967338
39	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.91955369
40	Colorectal cancer_Homo sapiens_hsa05210	0.91782220
41	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.87560947
42	Bladder cancer_Homo sapiens_hsa05219	0.87359171
43	Nicotine addiction_Homo sapiens_hsa05033	0.85413628
44	Pancreatic cancer_Homo sapiens_hsa05212	0.83984445
45	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.83608281
46	Amphetamine addiction_Homo sapiens_hsa05031	0.81808917
47	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.81488393
48	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.80966578
49	Renal cell carcinoma_Homo sapiens_hsa05211	0.77892132
50	Glioma_Homo sapiens_hsa05214	0.76815449
51	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.75240483
52	Nitrogen metabolism_Homo sapiens_hsa00910	0.74368974
53	Insulin secretion_Homo sapiens_hsa04911	0.73893902
54	FoxO signaling pathway_Homo sapiens_hsa04068	0.73092366
55	Amoebiasis_Homo sapiens_hsa05146	0.72991522
56	MicroRNAs in cancer_Homo sapiens_hsa05206	0.72603785
57	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.72147113
58	Endometrial cancer_Homo sapiens_hsa05213	0.72146267
59	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.71891375
60	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.71095995
61	GABAergic synapse_Homo sapiens_hsa04727	0.70183238
62	Melanoma_Homo sapiens_hsa05218	0.69816331
63	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.69607025
64	Viral myocarditis_Homo sapiens_hsa05416	0.69001101
65	Rap1 signaling pathway_Homo sapiens_hsa04015	0.68520986
66	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.68294269
67	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.66821007
68	Circadian entrainment_Homo sapiens_hsa04713	0.66683361
69	Olfactory transduction_Homo sapiens_hsa04740	0.65665982
70	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.64402817
71	Dopaminergic synapse_Homo sapiens_hsa04728	0.64038572
72	Prostate cancer_Homo sapiens_hsa05215	0.63091244
73	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.62944118
74	Salivary secretion_Homo sapiens_hsa04970	0.57964607
75	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.56407233
76	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.56286682
77	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.55397703
78	Type II diabetes mellitus_Homo sapiens_hsa04930	0.53875666
79	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.53611479
80	Rheumatoid arthritis_Homo sapiens_hsa05323	0.53422335
81	Long-term depression_Homo sapiens_hsa04730	0.52794498
82	Glutamatergic synapse_Homo sapiens_hsa04724	0.52206280
83	Prolactin signaling pathway_Homo sapiens_hsa04917	0.52175710
84	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.51104818
85	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.50656279
86	MAPK signaling pathway_Homo sapiens_hsa04010	0.50101775
87	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.48585035
88	Ras signaling pathway_Homo sapiens_hsa04014	0.47253162
89	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.44964645
90	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.44796933
91	Long-term potentiation_Homo sapiens_hsa04720	0.43773113
92	Leishmaniasis_Homo sapiens_hsa05140	0.42612003
93	Gastric acid secretion_Homo sapiens_hsa04971	0.42001990
94	Pathways in cancer_Homo sapiens_hsa05200	0.41478436
95	Cholinergic synapse_Homo sapiens_hsa04725	0.41376785
96	Insulin resistance_Homo sapiens_hsa04931	0.40820250
97	Hepatitis B_Homo sapiens_hsa05161	0.40717506
98	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.40630333
99	Morphine addiction_Homo sapiens_hsa05032	0.39998861
100	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.37334657

OTOL1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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