ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	phototransduction (GO:0007602)	9.18240998
2	phototransduction, visible light (GO:0007603)	9.12190106
3	GMP metabolic process (GO:0046037)	9.07935103
4	detection of visible light (GO:0009584)	9.05021447
5	detection of light stimulus (GO:0009583)	9.03061601
6	positive regulation of guanylate cyclase activity (GO:0031284)	8.37161649
7	protein-chromophore linkage (GO:0018298)	8.26112060
8	visual perception (GO:0007601)	8.00170614
9	sensory perception of light stimulus (GO:0050953)	7.92666113
10	regulation of guanylate cyclase activity (GO:0031282)	7.52190920
11	photoreceptor cell differentiation (GO:0046530)	6.66209599
12	eye photoreceptor cell differentiation (GO:0001754)	6.66209599
13	cellular response to light stimulus (GO:0071482)	6.63331066
14	detection of external stimulus (GO:0009581)	6.32256771
15	detection of abiotic stimulus (GO:0009582)	6.21190685
16	retina development in camera-type eye (GO:0060041)	6.17886795
17	regulation of cGMP metabolic process (GO:0030823)	6.00666888
18	positive regulation of cGMP biosynthetic process (GO:0030828)	5.66237327
19	regulation of cGMP biosynthetic process (GO:0030826)	5.29362122
20	positive regulation of cGMP metabolic process (GO:0030825)	4.99803975
21	receptor guanylyl cyclase signaling pathway (GO:0007168)	4.73382379
22	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	4.71935328
23	nonmotile primary cilium assembly (GO:0035058)	4.63430448
24	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	4.49488741
25	cellular response to radiation (GO:0071478)	4.21483292
26	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.91981621
27	cell morphogenesis involved in neuron differentiation (GO:0048667)	3.86224031
28	sensory perception (GO:0007600)	3.76577253
29	regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	3.74425325
30	adaptation of signaling pathway (GO:0023058)	3.65879107
31	regulation of voltage-gated calcium channel activity (GO:1901385)	3.58843683
32	protein localization to synapse (GO:0035418)	3.53677281
33	response to light stimulus (GO:0009416)	3.45293678
34	protein prenylation (GO:0018342)	3.44891018
35	prenylation (GO:0097354)	3.44891018
36	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.37785319
37	neuron development (GO:0048666)	3.35641177
38	cellular potassium ion homeostasis (GO:0030007)	3.32193898
39	negative regulation of receptor-mediated endocytosis (GO:0048261)	3.31947682
40	estrogen biosynthetic process (GO:0006703)	3.30079284
41	regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	3.28159663
42	regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	3.28159663
43	regulation of clathrin-mediated endocytosis (GO:2000369)	3.24162958
44	retina homeostasis (GO:0001895)	3.19646883
45	retina layer formation (GO:0010842)	3.12501977
46	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.08404579
47	response to pheromone (GO:0019236)	3.07768564
48	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.93642034
49	detection of chemical stimulus involved in sensory perception (GO:0050907)	2.91956768
50	regulation of bile acid biosynthetic process (GO:0070857)	2.90814832
51	behavioral response to ethanol (GO:0048149)	2.89841030
52	response to histamine (GO:0034776)	2.89160871
53	sodium ion export (GO:0071436)	2.87094833
54	retinoid metabolic process (GO:0001523)	2.86054091
55	retinol metabolic process (GO:0042572)	2.85604282
56	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.85486809
57	potassium ion homeostasis (GO:0055075)	2.83939290
58	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	2.81417597
59	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.78734776
60	membrane hyperpolarization (GO:0060081)	2.78127129
61	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.77615140
62	diterpenoid metabolic process (GO:0016101)	2.72921412
63	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.70889050
64	short-term memory (GO:0007614)	2.67235759
65	CDP-diacylglycerol biosynthetic process (GO:0016024)	2.66918693
66	lipoprotein transport (GO:0042953)	2.64057591
67	behavioral response to cocaine (GO:0048148)	2.61335820
68	detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	2.58906953
69	lactate metabolic process (GO:0006089)	2.58013149
70	terpenoid metabolic process (GO:0006721)	2.55927811
71	positive regulation of neurotransmitter transport (GO:0051590)	2.49162909
72	regulation of penile erection (GO:0060405)	2.48792428
73	positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	2.46232724
74	CDP-diacylglycerol metabolic process (GO:0046341)	2.46092496
75	striatum development (GO:0021756)	2.45351320
76	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.42391370
77	chemosensory behavior (GO:0007635)	2.35568287
78	synaptic vesicle maturation (GO:0016188)	2.35272524
79	regulation of neurotransmitter uptake (GO:0051580)	2.32790294
80	response to radiation (GO:0009314)	2.32136387
81	synaptic vesicle docking involved in exocytosis (GO:0016081)	2.30603757
82	synaptic transmission, dopaminergic (GO:0001963)	2.27130491
83	response to leptin (GO:0044321)	2.26993425
84	axoneme assembly (GO:0035082)	2.26833607
85	phospholipid translocation (GO:0045332)	2.26644134
86	lipid translocation (GO:0034204)	2.26644134
87	cellular response to leptin stimulus (GO:0044320)	2.22559257
88	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	2.20709655
89	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	2.20709655
90	fatty acid elongation (GO:0030497)	2.20593131
91	icosanoid secretion (GO:0032309)	2.19865237
92	regulation of rhodopsin mediated signaling pathway (GO:0022400)	15.8429821
93	rhodopsin mediated signaling pathway (GO:0016056)	15.5157562
94	retinal cone cell development (GO:0046549)	13.5627915
95	detection of light stimulus involved in sensory perception (GO:0050962)	11.6955423
96	detection of light stimulus involved in visual perception (GO:0050908)	11.6955423
97	photoreceptor cell development (GO:0042461)	11.3554490
98	eye photoreceptor cell development (GO:0042462)	10.9290783
99	photoreceptor cell maintenance (GO:0045494)	10.5466330
100	retinal rod cell development (GO:0046548)	10.1300209

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.66911559
2	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	3.24680809
3	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	3.07103222
4	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.90588232
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.73202942
6	RXR_22158963_ChIP-Seq_LIVER_Mouse	2.72789224
7	VDR_22108803_ChIP-Seq_LS180_Human	2.46116841
8	DROSHA_22980978_ChIP-Seq_HELA_Human	2.10699173
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.05466894
10	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.03347554
11	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	2.03036980
12	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.92364296
13	AR_21572438_ChIP-Seq_LNCaP_Human	1.90221547
14	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.82020705
15	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.78337061
16	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.74309533
17	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.72242376
18	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.71085013
19	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.70979525
20	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.67427856
21	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.65736514
22	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.63192450
23	* REST_21632747_ChIP-Seq_MESCs_Mouse	1.62658072
24	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.61186916
25	IGF1R_20145208_ChIP-Seq_DFB_Human	1.59205581
26	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.58496799
27	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.56417408
28	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.53883055
29	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.53336220
30	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.53061583
31	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.49782232
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.42319361
33	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.41469646
34	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.40142096
35	HTT_18923047_ChIP-ChIP_STHdh_Human	1.38344108
36	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.38217386
37	AR_19668381_ChIP-Seq_PC3_Human	1.36457611
38	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.36167194
39	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.35496868
40	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	1.34848569
41	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.33864640
42	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.25130633
43	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.24824326
44	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.23228649
45	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.22211183
46	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.22122542
47	STAT3_23295773_ChIP-Seq_U87_Human	1.20001755
48	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.17493555
49	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.17493555
50	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.17224824
51	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.15803617
52	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13059459
53	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.12884831
54	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.12713742
55	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.12068219
56	TBL1_22424771_ChIP-Seq_293T_Human	1.11127497
57	* CBP_21632823_ChIP-Seq_H3396_Human	1.10861969
58	P300_19829295_ChIP-Seq_ESCs_Human	1.10207434
59	RING1B_27294783_Chip-Seq_NPCs_Mouse	1.10127225
60	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.08711792
61	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.08019998
62	CBP_20019798_ChIP-Seq_JUKART_Human	1.08019998
63	BCAT_22108803_ChIP-Seq_LS180_Human	1.07609359
64	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.07598252
65	NCOR_22424771_ChIP-Seq_293T_Human	1.06646121
66	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.06487566
67	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.06336051
68	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.06251964
69	CTCF_27219007_Chip-Seq_Bcells_Human	1.05284652
70	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.04040593
71	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03402194
72	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.03335198
73	KDM2B_26808549_Chip-Seq_K562_Human	1.02457734
74	EGR1_19032775_ChIP-ChIP_M12_Human	1.01991657
75	TCF4_23295773_ChIP-Seq_U87_Human	1.01352271
76	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.01175002
77	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.01036528
78	SMC4_20622854_ChIP-Seq_HELA_Human	1.00816820
79	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.99829488
80	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.98819252
81	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.98100418
82	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	0.96013367
83	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.94715457
84	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.94031530
85	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.93942156
86	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.91268185
87	GF1_26923725_Chip-Seq_HPCs_Mouse	0.90866071
88	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.88509030
89	ER_23166858_ChIP-Seq_MCF-7_Human	0.87455836
90	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.86922465
91	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.86416837
92	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.86406747
93	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.85298712
94	GATA1_19941827_ChIP-Seq_MEL_Mouse	0.84904216
95	YAP1_20516196_ChIP-Seq_MESCs_Mouse	0.84348417
96	AR_25329375_ChIP-Seq_VCAP_Human	0.84071145
97	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.83393783
98	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.82815486
99	ISL1_27105846_Chip-Seq_CPCs_Mouse	0.82712912
100	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.81584867

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003011_delayed_dark_adaptation	9.75804420
2	MP0005551_abnormal_eye_electrophysiolog	9.74212914
3	MP0005253_abnormal_eye_physiology	6.44179650
4	MP0006072_abnormal_retinal_apoptosis	6.30914974
5	MP0003950_abnormal_plasma_membrane	4.16268352
6	MP0005195_abnormal_posterior_eye	3.84865897
7	MP0002090_abnormal_vision	3.43272154
8	MP0001324_abnormal_eye_pigmentation	3.39831215
9	MP0002638_abnormal_pupillary_reflex	3.11727971
10	MP0005391_vision/eye_phenotype	3.11189479
11	MP0002229_neurodegeneration	2.42252554
12	MP0001764_abnormal_homeostasis	2.41600688
13	MP0005423_abnormal_somatic_nervous	2.16200227
14	MP0002752_abnormal_somatic_nervous	1.87331974
15	MP0001502_abnormal_circadian_rhythm	1.61550852
16	MP0001984_abnormal_olfaction	1.58878712
17	MP0001986_abnormal_taste_sensitivity	1.58368921
18	MP0004019_abnormal_vitamin_homeostasis	1.54235694
19	MP0005365_abnormal_bile_salt	1.51349584
20	MP0005360_urolithiasis	1.41175392
21	MP0002139_abnormal_hepatobiliary_system	1.32259091
22	MP0004233_abnormal_muscle_weight	1.27309954
23	MP0002882_abnormal_neuron_morphology	1.27127022
24	MP0005085_abnormal_gallbladder_physiolo	1.26748509
25	MP0002653_abnormal_ependyma_morphology	1.25367759
26	MP0008875_abnormal_xenobiotic_pharmacok	1.20392628
27	MP0003252_abnormal_bile_duct	1.04585315
28	MP0006292_abnormal_olfactory_placode	1.03580857
29	MP0004782_abnormal_surfactant_physiolog	1.03163499
30	MP0005499_abnormal_olfactory_system	0.97768423
31	MP0005394_taste/olfaction_phenotype	0.97768423
32	MP0005197_abnormal_uvea_morphology	0.95755151
33	MP0008789_abnormal_olfactory_epithelium	0.90484773
34	MP0002332_abnormal_exercise_endurance	0.87593053
35	MP0005187_abnormal_penis_morphology	0.87341178
36	MP0004885_abnormal_endolymph	0.84104677
37	MP0010386_abnormal_urinary_bladder	0.84063322
38	MP0010329_abnormal_lipoprotein_level	0.78236325
39	MP0005248_abnormal_Harderian_gland	0.77525339
40	MP0001486_abnormal_startle_reflex	0.74326282
41	MP0002272_abnormal_nervous_system	0.70491405
42	MP0003634_abnormal_glial_cell	0.70428955
43	MP0002127_abnormal_cardiovascular_syste	0.67924546
44	MP0003868_abnormal_feces_composition	0.63745627
45	MP0009840_abnormal_foam_cell	0.62331439
46	MP0005376_homeostasis/metabolism_phenot	0.58952935
47	MP0010368_abnormal_lymphatic_system	0.56199986
48	MP0001286_abnormal_eye_development	0.53312954
49	MP0005595_abnormal_vascular_smooth	0.52715041
50	MP0002067_abnormal_sensory_capabilities	0.52455592
51	MP0009046_muscle_twitch	0.50418961
52	MP0002064_seizures	0.49533463
53	MP0009697_abnormal_copulation	0.47327445
54	MP0001963_abnormal_hearing_physiology	0.46429166
55	MP0002734_abnormal_mechanical_nocicepti	0.46066553
56	MP0003880_abnormal_central_pattern	0.44974319
57	MP0004036_abnormal_muscle_relaxation	0.43925116
58	MP0000631_abnormal_neuroendocrine_gland	0.43835977
59	MP0004270_analgesia	0.42811042
60	MP0004215_abnormal_myocardial_fiber	0.41847913
61	MP0005220_abnormal_exocrine_pancreas	0.40827635
62	MP0001346_abnormal_lacrimal_gland	0.37893369
63	MP0003635_abnormal_synaptic_transmissio	0.37422971
64	MP0002118_abnormal_lipid_homeostasis	0.35615227
65	MP0005319_abnormal_enzyme/_coenzyme	0.35305850
66	MP0004085_abnormal_heartbeat	0.35226756
67	MP0002063_abnormal_learning/memory/cond	0.34151171
68	MP0005670_abnormal_white_adipose	0.34044638
69	MP0002184_abnormal_innervation	0.33650744
70	MP0001666_abnormal_nutrient_absorption	0.32487658
71	MP0005620_abnormal_muscle_contractility	0.32302165
72	MP0002928_abnormal_bile_duct	0.32193221
73	MP0008775_abnormal_heart_ventricle	0.31579393
74	MP0002572_abnormal_emotion/affect_behav	0.31118796
75	MP0005332_abnormal_amino_acid	0.31074369
76	MP0003890_abnormal_embryonic-extraembry	0.30971500
77	MP0008004_abnormal_stomach_pH	0.30685512
78	MP0003195_calcinosis	0.28173173
79	MP0002697_abnormal_eye_size	0.27946475
80	MP0000609_abnormal_liver_physiology	0.27906535
81	MP0000026_abnormal_inner_ear	0.27848681
82	MP0001661_extended_life_span	0.27706867
83	MP0005084_abnormal_gallbladder_morpholo	0.27532079
84	MP0004043_abnormal_pH_regulation	0.26662840
85	MP0010030_abnormal_orbit_morphology	0.26570527
86	MP0000465_gastrointestinal_hemorrhage	0.26417635
87	MP0004924_abnormal_behavior	0.25933439
88	MP0005386_behavior/neurological_phenoty	0.25933439
89	MP0005646_abnormal_pituitary_gland	0.25718670
90	MP0000230_abnormal_systemic_arterial	0.24412639
91	MP0001968_abnormal_touch/_nociception	0.24267620
92	MP0009745_abnormal_behavioral_response	0.24233633
93	MP0002909_abnormal_adrenal_gland	0.23129039
94	MP0005334_abnormal_fat_pad	0.22044573
95	MP0003879_abnormal_hair_cell	0.22023429
96	MP0009764_decreased_sensitivity_to	0.21888749
97	MP0005266_abnormal_metabolism	0.20436112
98	MP0005535_abnormal_body_temperature	0.20244547
99	MP0004742_abnormal_vestibular_system	0.19393682
100	MP0004142_abnormal_muscle_tone	0.19199302

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Absent rod-and cone-mediated responses on ERG (HP:0007688)	9.45745195
2	Chorioretinal atrophy (HP:0000533)	8.95599101
3	Pigmentary retinal degeneration (HP:0001146)	8.95231462
4	Central scotoma (HP:0000603)	8.23985958
5	Abnormality of macular pigmentation (HP:0008002)	7.68894332
6	Pendular nystagmus (HP:0012043)	7.31629931
7	Dyschromatopsia (HP:0007641)	7.29137917
8	Scotoma (HP:0000575)	7.08506583
9	Attenuation of retinal blood vessels (HP:0007843)	7.02456204
10	Decreased central vision (HP:0007663)	6.56212210
11	Abolished electroretinogram (ERG) (HP:0000550)	6.41001853
12	Type II diabetes mellitus (HP:0005978)	5.42043121
13	Photophobia (HP:0000613)	5.37887567
14	Keratoconus (HP:0000563)	5.27766506
15	Increased corneal curvature (HP:0100692)	5.27766506
16	Cone-rod dystrophy (HP:0000548)	5.09065891
17	Vitreoretinal degeneration (HP:0000655)	5.05050543
18	Severe visual impairment (HP:0001141)	4.96107356
19	Macular degeneration (HP:0000608)	4.53156380
20	Retinitis pigmentosa (HP:0000510)	4.38311582
21	Constricted visual fields (HP:0001133)	4.09591049
22	Choroideremia (HP:0001139)	4.02505760
23	Posterior subcapsular cataract (HP:0007787)	4.01155174
24	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.60633998
25	Progressive visual loss (HP:0000529)	2.89359401
26	Retinal atrophy (HP:0001105)	2.76762061
27	Gait imbalance (HP:0002141)	2.58052132
28	Congenital primary aphakia (HP:0007707)	2.56630026
29	Optic disc pallor (HP:0000543)	2.55744219
30	Subcapsular cataract (HP:0000523)	2.50197848
31	Wide nasal bridge (HP:0000431)	2.33815180
32	Nephrogenic diabetes insipidus (HP:0009806)	2.31850200
33	Medial flaring of the eyebrow (HP:0010747)	2.22953620
34	Congenital sensorineural hearing impairment (HP:0008527)	2.22689318
35	Poor coordination (HP:0002370)	2.03737142
36	Congenital stationary night blindness (HP:0007642)	15.7344060
37	Bony spicule pigmentary retinopathy (HP:0007737)	11.1221408
38	Abnormal rod and cone electroretinograms (HP:0008323)	10.1026649
39	Severe Myopia (HP:0011003)	1.72954813
40	Vaginal atresia (HP:0000148)	1.69700303
41	Genital tract atresia (HP:0001827)	1.66252397
42	Optic atrophy (HP:0000648)	1.63028343
43	Hypoplasia of the fovea (HP:0007750)	1.60323604
44	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.60323604
45	True hermaphroditism (HP:0010459)	1.58415709
46	Epileptic encephalopathy (HP:0200134)	1.54990574
47	Febrile seizures (HP:0002373)	1.53340292
48	Abnormality of the fovea (HP:0000493)	1.52834538
49	Dysdiadochokinesis (HP:0002075)	1.52284894
50	Aplasia/Hypoplasia of the lens (HP:0008063)	1.42070163
51	Cholecystitis (HP:0001082)	1.36018217
52	Abnormal gallbladder physiology (HP:0012438)	1.36018217
53	Interstitial pulmonary disease (HP:0006530)	1.35259127
54	Septo-optic dysplasia (HP:0100842)	1.33558243
55	Pancreatic fibrosis (HP:0100732)	1.33144220
56	Polar cataract (HP:0010696)	1.31314135
57	Astigmatism (HP:0000483)	1.29639530
58	Horizontal nystagmus (HP:0000666)	1.29377393
59	Aplasia/Hypoplasia of the macula (HP:0008059)	1.28013547
60	Intrahepatic cholestasis (HP:0001406)	1.20030472
61	Aplasia/Hypoplasia affecting the retina (HP:0008061)	1.17095150
62	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.11277683
63	Pancreatic cysts (HP:0001737)	1.10267787
64	Cerebellar dysplasia (HP:0007033)	1.07555556
65	Left ventricular hypertrophy (HP:0001712)	1.03403824
66	Cystic liver disease (HP:0006706)	1.03046757
67	Chorioretinal coloboma (HP:0000567)	1.02311156
68	Broad foot (HP:0001769)	1.01157980
69	Albinism (HP:0001022)	0.98158844
70	Specific learning disability (HP:0001328)	0.97769755
71	Decreased testicular size (HP:0008734)	0.95904095
72	Progressive cerebellar ataxia (HP:0002073)	0.95680996
73	Abnormality of monocarboxylic acid metabolism (HP:0010996)	0.94991868
74	Asthma (HP:0002099)	0.93969952
75	Recurrent sinusitis (HP:0011108)	0.92664544
76	Retinal detachment (HP:0000541)	0.92020890
77	Chronic hepatic failure (HP:0100626)	0.90566517
78	Deep venous thrombosis (HP:0002625)	0.90368715
79	Abnormality of aromatic amino acid family metabolism (HP:0004338)	0.89864739
80	Hyperlipoproteinemia (HP:0010980)	0.88324851
81	Truncal ataxia (HP:0002078)	0.88285346
82	Absence seizures (HP:0002121)	0.87922357
83	Partial agenesis of the corpus callosum (HP:0001338)	0.82458992
84	Prolonged QT interval (HP:0001657)	0.82095587
85	Prolonged partial thromboplastin time (HP:0003645)	0.81525073
86	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	0.81374386
87	Hypobetalipoproteinemia (HP:0003563)	0.77975041
88	Xanthomatosis (HP:0000991)	0.77157459
89	Hypoalphalipoproteinemia (HP:0003233)	0.76781187
90	EEG with generalized epileptiform discharges (HP:0011198)	0.75241903
91	Generalized myoclonic seizures (HP:0002123)	0.74591720
92	Abnormality of the lower motor neuron (HP:0002366)	0.73572256
93	Sclerocornea (HP:0000647)	0.73035670
94	Congenital hepatic fibrosis (HP:0002612)	0.72773287
95	Short foot (HP:0001773)	0.72371882
96	Furrowed tongue (HP:0000221)	0.70918600
97	Epileptiform EEG discharges (HP:0011182)	0.70915455
98	Hypolipoproteinemia (HP:0010981)	0.70692621
99	Abnormality of midbrain morphology (HP:0002418)	0.70085686
100	Molar tooth sign on MRI (HP:0002419)	0.70085686

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PBK	8.55560571
2	GRK1	8.40449783
3	PINK1	3.40627808
4	INSRR	2.96810811
5	IRAK2	2.45187926
6	NEK1	1.86354029
7	TAOK3	1.86147917
8	AKT3	1.55354099
9	SGK494	1.51799553
10	SGK223	1.51799553
11	ERBB3	1.42727458
12	SIK2	1.29153871
13	CAMK1D	1.27195870
14	SGK2	1.23681930
15	MAPK7	1.22640735
16	ADRBK1	1.20237822
17	STK38	1.19742629
18	MAPK12	1.19516198
19	MARK1	1.18866866
20	CAMK1G	1.15944017
21	BRD4	1.14527811
22	PRKAA1	1.09323659
23	PLK2	1.06645374
24	PRKCZ	1.05245101
25	DYRK1A	1.04910408
26	SGK3	1.00896140
27	ERBB2	0.98529051
28	EPHA3	0.98484626
29	HIPK2	0.94770677
30	MAP3K4	0.94261641
31	SIK1	0.92943224
32	PAK6	0.92555609
33	CDK3	0.92193373
34	MAP3K7	0.88869489
35	LATS1	0.87650631
36	CAMK2D	0.85177891
37	ICK	0.84862022
38	STK38L	0.84788931
39	CSNK1D	0.81105888
40	TAOK2	0.77119078
41	RPS6KA4	0.76734802
42	FES	0.72134937
43	CCNB1	0.71911636
44	PRPF4B	0.70281523
45	MAP3K10	0.69885816
46	CAMKK1	0.66558442
47	PRKACG	0.65074641
48	BMPR2	0.64459216
49	PRKCB	0.64156399
50	PRKAA2	0.64149033
51	TNK2	0.64050049
52	PHKG1	0.62353448
53	PHKG2	0.62353448
54	PLK4	0.61297287
55	NEK6	0.60283156
56	CDK9	0.59458237
57	DYRK1B	0.58478777
58	PRKCH	0.58195428
59	RPS6KA3	0.55019464
60	NEK2	0.53734129
61	PRKD3	0.52409580
62	RIPK1	0.47041325
63	MAP3K13	0.46930989
64	PKN1	0.46171932
65	MINK1	0.45894964
66	CAMK1	0.44607912
67	MAP2K4	0.43645693
68	CAMK4	0.43527549
69	CAMK2A	0.43054720
70	PRKCG	0.42849439
71	GSK3B	0.42729546
72	CDK12	0.42549404
73	SGK1	0.41828172
74	PRKACA	0.38317402
75	NME1	0.38107210
76	MAP2K7	0.37207402
77	PRKCA	0.37061389
78	PLK3	0.36841870
79	MAPK14	0.36671200
80	MAPK10	0.35611860
81	GRK5	0.35054775
82	RPS6KB1	0.33971135
83	PRKDC	0.33811409
84	CDK5	0.33601867
85	MAPK9	0.33491859
86	EPHA4	0.32346692
87	FER	0.28885978
88	FRK	0.26724729
89	BCKDK	0.26665103
90	PRKG1	0.26612214
91	TTK	0.25700299
92	AKT2	0.25635377
93	CDK1	0.25213572
94	PKN2	0.23779282
95	YES1	0.23579550
96	MAPK8	0.23492670
97	MAPK3	0.23168638
98	PRKD2	0.22984598
99	FGFR4	0.22584909
100	WNK1	0.21178510

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	14.6003452
2	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.80071328
3	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.71605342
4	Olfactory transduction_Homo sapiens_hsa04740	1.52502141
5	GABAergic synapse_Homo sapiens_hsa04727	1.52445137
6	Retinol metabolism_Homo sapiens_hsa00830	1.47824533
7	Circadian rhythm_Homo sapiens_hsa04710	1.35027339
8	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.23142623
9	Nitrogen metabolism_Homo sapiens_hsa00910	1.22999041
10	Arginine biosynthesis_Homo sapiens_hsa00220	1.19454854
11	Morphine addiction_Homo sapiens_hsa05032	1.04264674
12	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.01304490
13	ABC transporters_Homo sapiens_hsa02010	1.00920702
14	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.95041306
15	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.92742579
16	Caffeine metabolism_Homo sapiens_hsa00232	0.87625801
17	Circadian entrainment_Homo sapiens_hsa04713	0.86466682
18	Cholinergic synapse_Homo sapiens_hsa04725	0.82061495
19	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.79016066
20	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.78159214
21	Nicotine addiction_Homo sapiens_hsa05033	0.76171728
22	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.75068816
23	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.74521273
24	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.74110681
25	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.73169065
26	Glutamatergic synapse_Homo sapiens_hsa04724	0.71726791
27	Insulin secretion_Homo sapiens_hsa04911	0.62065955
28	Serotonergic synapse_Homo sapiens_hsa04726	0.61226453
29	Complement and coagulation cascades_Homo sapiens_hsa04610	0.60321985
30	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.59977320
31	Dopaminergic synapse_Homo sapiens_hsa04728	0.59261121
32	Bile secretion_Homo sapiens_hsa04976	0.58325464
33	Tryptophan metabolism_Homo sapiens_hsa00380	0.55615888
34	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.53461397
35	Fatty acid degradation_Homo sapiens_hsa00071	0.50055640
36	Fatty acid elongation_Homo sapiens_hsa00062	0.49459856
37	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.48456655
38	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.48067173
39	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.47859778
40	Peroxisome_Homo sapiens_hsa04146	0.47772488
41	Phenylalanine metabolism_Homo sapiens_hsa00360	0.47030622
42	Glycerolipid metabolism_Homo sapiens_hsa00561	0.47002147
43	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.45734865
44	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.44190548
45	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.43876995
46	Lysine degradation_Homo sapiens_hsa00310	0.42812854
47	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.42719604
48	Galactose metabolism_Homo sapiens_hsa00052	0.42697661
49	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.40144798
50	Renin secretion_Homo sapiens_hsa04924	0.40065231
51	PPAR signaling pathway_Homo sapiens_hsa03320	0.39621336
52	Pyruvate metabolism_Homo sapiens_hsa00620	0.38317149
53	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.38080320
54	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.37478507
55	Fatty acid metabolism_Homo sapiens_hsa01212	0.36848458
56	Carbon metabolism_Homo sapiens_hsa01200	0.36584299
57	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.36031962
58	Butanoate metabolism_Homo sapiens_hsa00650	0.35960308
59	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.35434283
60	Fat digestion and absorption_Homo sapiens_hsa04975	0.35317160
61	Purine metabolism_Homo sapiens_hsa00230	0.35162147
62	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.34493481
63	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.34119032
64	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.34048765
65	Salivary secretion_Homo sapiens_hsa04970	0.33081403
66	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.32094956
67	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.31926130
68	Pentose phosphate pathway_Homo sapiens_hsa00030	0.31296678
69	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.31275627
70	Chemical carcinogenesis_Homo sapiens_hsa05204	0.30738566
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.30671417
72	Tyrosine metabolism_Homo sapiens_hsa00350	0.30327519
73	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.27482646
74	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.27218053
75	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.26859049
76	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.25705241
77	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.25658296
78	Cardiac muscle contraction_Homo sapiens_hsa04260	0.24890762
79	Histidine metabolism_Homo sapiens_hsa00340	0.24329656
80	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.23751145
81	Linoleic acid metabolism_Homo sapiens_hsa00591	0.23508098
82	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.23500594
83	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.23305788
84	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.22214124
85	cAMP signaling pathway_Homo sapiens_hsa04024	0.21528063
86	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.21273943
87	beta-Alanine metabolism_Homo sapiens_hsa00410	0.20917658
88	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.20503455
89	Type II diabetes mellitus_Homo sapiens_hsa04930	0.20381474
90	Propanoate metabolism_Homo sapiens_hsa00640	0.20210347
91	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.19376263
92	mTOR signaling pathway_Homo sapiens_hsa04150	0.18985674
93	Mineral absorption_Homo sapiens_hsa04978	0.18921534
94	Glucagon signaling pathway_Homo sapiens_hsa04922	0.18631723
95	Arginine and proline metabolism_Homo sapiens_hsa00330	0.18294563
96	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.18190414
97	Folate biosynthesis_Homo sapiens_hsa00790	0.15492109
98	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.14805993
99	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.14575867
100	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.14412051

LRIT2

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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