ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.93456718
2	L-fucose catabolic process (GO:0042355)	5.12825794
3	fucose catabolic process (GO:0019317)	5.12825794
4	L-fucose metabolic process (GO:0042354)	5.12825794
5	DNA deamination (GO:0045006)	4.26870461
6	detection of light stimulus involved in visual perception (GO:0050908)	4.04818447
7	detection of light stimulus involved in sensory perception (GO:0050962)	4.04818447
8	tryptophan catabolic process (GO:0006569)	3.97594443
9	indole-containing compound catabolic process (GO:0042436)	3.97594443
10	indolalkylamine catabolic process (GO:0046218)	3.97594443
11	indolalkylamine metabolic process (GO:0006586)	3.97056126
12	response to pheromone (GO:0019236)	3.78341816
13	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.75030187
14	kynurenine metabolic process (GO:0070189)	3.73534559
15	tryptophan metabolic process (GO:0006568)	3.48114357
16	axoneme assembly (GO:0035082)	3.41765707
17	piRNA metabolic process (GO:0034587)	3.41369890
18	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.26543165
19	protein polyglutamylation (GO:0018095)	3.25936949
20	cellular ketone body metabolic process (GO:0046950)	3.23688615
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.19399193
22	respiratory chain complex IV assembly (GO:0008535)	3.15258604
23	platelet dense granule organization (GO:0060155)	3.09887576
24	positive regulation of fatty acid transport (GO:2000193)	3.09617762
25	negative regulation of telomere maintenance (GO:0032205)	3.06678962
26	nonmotile primary cilium assembly (GO:0035058)	3.03145342
27	positive regulation of prostaglandin secretion (GO:0032308)	3.02290470
28	cellular response to ATP (GO:0071318)	3.01715743
29	sulfation (GO:0051923)	2.98689269
30	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.97271160
31	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.97271160
32	NADH dehydrogenase complex assembly (GO:0010257)	2.97271160
33	indole-containing compound metabolic process (GO:0042430)	2.96492813
34	cornea development in camera-type eye (GO:0061303)	2.92899353
35	ketone body metabolic process (GO:1902224)	2.92088344
36	protein complex biogenesis (GO:0070271)	2.89916420
37	neuronal action potential (GO:0019228)	2.89526651
38	kidney morphogenesis (GO:0060993)	2.87926884
39	preassembly of GPI anchor in ER membrane (GO:0016254)	2.87518470
40	negative regulation of mast cell activation (GO:0033004)	2.85944911
41	cilium or flagellum-dependent cell motility (GO:0001539)	2.84871863
42	cellular biogenic amine catabolic process (GO:0042402)	2.84157175
43	amine catabolic process (GO:0009310)	2.84157175
44	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.84109638
45	DNA methylation involved in gamete generation (GO:0043046)	2.83469807
46	fucosylation (GO:0036065)	2.80270140
47	epithelial cilium movement (GO:0003351)	2.79277808
48	gamma-aminobutyric acid transport (GO:0015812)	2.78234890
49	cytochrome complex assembly (GO:0017004)	2.75913350
50	photoreceptor cell maintenance (GO:0045494)	2.74777975
51	synaptic transmission, cholinergic (GO:0007271)	2.74574038
52	positive regulation of icosanoid secretion (GO:0032305)	2.71724779
53	rRNA catabolic process (GO:0016075)	2.71132077
54	mitochondrial respiratory chain complex assembly (GO:0033108)	2.69729568
55	primary amino compound metabolic process (GO:1901160)	2.69682989
56	regulation of cilium movement (GO:0003352)	2.67834666
57	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.67765361
58	mannosylation (GO:0097502)	2.65923544
59	multicellular organism reproduction (GO:0032504)	2.65482415
60	positive regulation of defense response to virus by host (GO:0002230)	2.65326583
61	rhodopsin mediated signaling pathway (GO:0016056)	2.65185357
62	behavioral response to ethanol (GO:0048149)	2.64113786
63	neural tube formation (GO:0001841)	2.63345783
64	regulation of action potential (GO:0098900)	2.62476475
65	auditory receptor cell stereocilium organization (GO:0060088)	2.61926650
66	retinal cone cell development (GO:0046549)	2.60790561
67	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.59367370
68	protein-cofactor linkage (GO:0018065)	2.59230094
69	adaptation of signaling pathway (GO:0023058)	2.58243650
70	ubiquinone biosynthetic process (GO:0006744)	2.58097154
71	nephron tubule morphogenesis (GO:0072078)	2.57439148
72	nephron epithelium morphogenesis (GO:0072088)	2.57439148
73	reflex (GO:0060004)	2.53971612
74	reciprocal meiotic recombination (GO:0007131)	2.53068348
75	reciprocal DNA recombination (GO:0035825)	2.53068348
76	protein K11-linked deubiquitination (GO:0035871)	2.51533964
77	S-adenosylmethionine metabolic process (GO:0046500)	2.49197536
78	photoreceptor cell development (GO:0042461)	2.48967129
79	cilium organization (GO:0044782)	2.47792525
80	spinal cord motor neuron differentiation (GO:0021522)	2.45141555
81	cilium morphogenesis (GO:0060271)	2.44698313
82	glycerophospholipid catabolic process (GO:0046475)	2.43402281
83	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.42506266
84	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.41893405
85	regulation of translation, ncRNA-mediated (GO:0045974)	2.41893405
86	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.41893405
87	oxidative demethylation (GO:0070989)	2.41290117
88	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.40721991
89	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.40721991
90	ubiquinone metabolic process (GO:0006743)	2.40488037
91	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.39050943
92	NAD biosynthetic process (GO:0009435)	2.38829263
93	cilium assembly (GO:0042384)	2.38716285
94	cilium movement (GO:0003341)	2.38448910
95	replication fork processing (GO:0031297)	2.38345685
96	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.36938924
97	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.36264006
98	protein localization to cilium (GO:0061512)	2.36107766
99	double-strand break repair via homologous recombination (GO:0000724)	2.36046596
100	recombinational repair (GO:0000725)	2.36020257

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.16629786
2	VDR_22108803_ChIP-Seq_LS180_Human	3.24554199
3	EZH2_22144423_ChIP-Seq_EOC_Human	2.85951780
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.78214702
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.47780084
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.36853926
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.35152767
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.33444546
9	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.11966142
10	EWS_26573619_Chip-Seq_HEK293_Human	2.10676168
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.08303324
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.06499450
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.01143459
14	FUS_26573619_Chip-Seq_HEK293_Human	1.99682230
15	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.99078261
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.98546256
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.97343094
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.88522224
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.87417208
20	P300_19829295_ChIP-Seq_ESCs_Human	1.81596463
21	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.75312866
22	IRF1_19129219_ChIP-ChIP_H3396_Human	1.73606289
23	TP53_22573176_ChIP-Seq_HFKS_Human	1.68877995
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.67367420
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.60974156
26	BCAT_22108803_ChIP-Seq_LS180_Human	1.57076641
27	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.54974927
28	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52007161
29	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.51407497
30	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.47660781
31	REST_21632747_ChIP-Seq_MESCs_Mouse	1.46284392
32	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.45675648
33	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.45675648
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.44388480
35	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.43186490
36	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.42195250
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.42064608
38	STAT3_23295773_ChIP-Seq_U87_Human	1.41690781
39	CBP_20019798_ChIP-Seq_JUKART_Human	1.41597614
40	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.41597614
41	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.37744441
42	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37402843
43	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.35363190
44	TCF4_23295773_ChIP-Seq_U87_Human	1.35167507
45	NANOG_19829295_ChIP-Seq_ESCs_Human	1.34413156
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.34413156
47	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.32586514
48	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.31950216
49	AR_25329375_ChIP-Seq_VCAP_Human	1.31940447
50	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.31646981
51	NCOR_22424771_ChIP-Seq_293T_Human	1.30214086
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27593026
53	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.27316690
54	SMAD4_21799915_ChIP-Seq_A2780_Human	1.26527540
55	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.25540991
56	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.25540991
57	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.25422858
58	* MYC_18940864_ChIP-ChIP_HL60_Human	1.24222733
59	AR_20517297_ChIP-Seq_VCAP_Human	1.22953452
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.21573118
61	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.21081829
62	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.19107277
63	HOXB7_26014856_ChIP-Seq_BT474_Human	1.18938574
64	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.18280095
65	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.17908820
66	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.16279159
67	RNF2_27304074_Chip-Seq_NSC_Mouse	1.16031422
68	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.15168077
69	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14853454
70	MYC_19829295_ChIP-Seq_ESCs_Human	1.14835569
71	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.14430004
72	ERA_21632823_ChIP-Seq_H3396_Human	1.14309062
73	RUNX2_22187159_ChIP-Seq_PCA_Human	1.13731574
74	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.12882334
75	NANOG_20526341_ChIP-Seq_ESCs_Human	1.11977319
76	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.11856346
77	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11797512
78	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.11260923
79	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.11104059
80	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.08049743
81	TAF2_19829295_ChIP-Seq_ESCs_Human	1.07911140
82	* TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.07388771
83	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.06331498
84	AR_21572438_ChIP-Seq_LNCaP_Human	1.05070357
85	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.04029838
86	DROSHA_22980978_ChIP-Seq_HELA_Human	1.03710546
87	* SMAD3_21741376_ChIP-Seq_EPCs_Human	1.02269792
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.02181518
89	VDR_23849224_ChIP-Seq_CD4+_Human	1.01199908
90	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.01084438
91	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.00726548
92	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97197008
93	OCT4_20526341_ChIP-Seq_ESCs_Human	0.96705218
94	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.95921184
95	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.95746987
96	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.95604314
97	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95240741
98	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.94905549
99	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.93725554
100	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.93286333

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.29716554
2	MP0008877_abnormal_DNA_methylation	2.72565914
3	MP0001968_abnormal_touch/_nociception	2.59030283
4	MP0005551_abnormal_eye_electrophysiolog	2.57610093
5	MP0002102_abnormal_ear_morphology	2.48726564
6	MP0001986_abnormal_taste_sensitivity	2.38819487
7	MP0000569_abnormal_digit_pigmentation	2.13182555
8	MP0008875_abnormal_xenobiotic_pharmacok	2.09609800
9	MP0004043_abnormal_pH_regulation	2.08242472
10	MP0002638_abnormal_pupillary_reflex	2.07202226
11	MP0003787_abnormal_imprinting	2.02297949
12	MP0005174_abnormal_tail_pigmentation	2.01069656
13	MP0005646_abnormal_pituitary_gland	1.98847308
14	MP0003646_muscle_fatigue	1.97957548
15	MP0006072_abnormal_retinal_apoptosis	1.91822932
16	MP0002876_abnormal_thyroid_physiology	1.91317112
17	MP0008872_abnormal_physiological_respon	1.90628836
18	MP0003136_yellow_coat_color	1.88075565
19	MP0009046_muscle_twitch	1.82451537
20	MP0004142_abnormal_muscle_tone	1.81439277
21	MP0009745_abnormal_behavioral_response	1.80249738
22	MP0002837_dystrophic_cardiac_calcinosis	1.78058003
23	MP0005253_abnormal_eye_physiology	1.75236109
24	MP0002736_abnormal_nociception_after	1.74121560
25	MP0004147_increased_porphyrin_level	1.70965939
26	MP0005645_abnormal_hypothalamus_physiol	1.70790490
27	MP0004885_abnormal_endolymph	1.70216637
28	MP0001501_abnormal_sleep_pattern	1.65815381
29	MP0000372_irregular_coat_pigmentation	1.64074856
30	MP0006292_abnormal_olfactory_placode	1.63034872
31	MP0006276_abnormal_autonomic_nervous	1.50893510
32	MP0002272_abnormal_nervous_system	1.50561309
33	MP0003880_abnormal_central_pattern	1.48073090
34	MP0000427_abnormal_hair_cycle	1.41755194
35	MP0004133_heterotaxia	1.38627022
36	MP0001486_abnormal_startle_reflex	1.37594547
37	MP0001485_abnormal_pinna_reflex	1.36994806
38	MP0005084_abnormal_gallbladder_morpholo	1.34653041
39	MP0005075_abnormal_melanosome_morpholog	1.32970991
40	MP0002160_abnormal_reproductive_system	1.32772061
41	MP0002138_abnormal_hepatobiliary_system	1.32593136
42	MP0003011_delayed_dark_adaptation	1.31611186
43	MP0002938_white_spotting	1.30052806
44	MP0000631_abnormal_neuroendocrine_gland	1.29964185
45	MP0002653_abnormal_ependyma_morphology	1.29503879
46	MP0002735_abnormal_chemical_nociception	1.28241450
47	MP0002557_abnormal_social/conspecific_i	1.25555842
48	MP0005377_hearing/vestibular/ear_phenot	1.24869848
49	MP0003878_abnormal_ear_physiology	1.24869848
50	MP0005389_reproductive_system_phenotype	1.23438831
51	MP0004742_abnormal_vestibular_system	1.21885294
52	MP0002064_seizures	1.20764811
53	MP0001970_abnormal_pain_threshold	1.20222386
54	MP0010386_abnormal_urinary_bladder	1.18829286
55	MP0002733_abnormal_thermal_nociception	1.18123675
56	MP0005410_abnormal_fertilization	1.17956569
57	MP0002928_abnormal_bile_duct	1.16532287
58	MP0002572_abnormal_emotion/affect_behav	1.15532267
59	MP0004924_abnormal_behavior	1.13131357
60	MP0005386_behavior/neurological_phenoty	1.13131357
61	MP0003252_abnormal_bile_duct	1.09625929
62	MP0002095_abnormal_skin_pigmentation	1.07227312
63	MP0001502_abnormal_circadian_rhythm	1.06425259
64	MP0000383_abnormal_hair_follicle	1.05977179
65	MP0002067_abnormal_sensory_capabilities	1.05617532
66	MP0002163_abnormal_gland_morphology	1.04524196
67	MP0001919_abnormal_reproductive_system	1.02754230
68	MP0003283_abnormal_digestive_organ	1.01580797
69	MP0004145_abnormal_muscle_electrophysio	0.99517552
70	MP0005167_abnormal_blood-brain_barrier	0.99339746
71	MP0008995_early_reproductive_senescence	0.98681467
72	MP0005195_abnormal_posterior_eye	0.97339073
73	MP0005379_endocrine/exocrine_gland_phen	0.96445008
74	MP0001905_abnormal_dopamine_level	0.96137488
75	MP0002909_abnormal_adrenal_gland	0.94814859
76	MP0000015_abnormal_ear_pigmentation	0.94732682
77	MP0005423_abnormal_somatic_nervous	0.92532565
78	MP0000230_abnormal_systemic_arterial	0.92511456
79	MP0003718_maternal_effect	0.91672290
80	MP0003635_abnormal_synaptic_transmissio	0.90241418
81	MP0001529_abnormal_vocalization	0.89695206
82	MP0010329_abnormal_lipoprotein_level	0.89625363
83	MP0000538_abnormal_urinary_bladder	0.88832921
84	MP0003698_abnormal_male_reproductive	0.87120680
85	MP0002063_abnormal_learning/memory/cond	0.86630282
86	MP0005671_abnormal_response_to	0.85499809
87	MP0005085_abnormal_gallbladder_physiolo	0.85392293
88	MP0002693_abnormal_pancreas_physiology	0.84306347
89	MP0005171_absent_coat_pigmentation	0.83898128
90	MP0001984_abnormal_olfaction	0.83791244
91	MP0001324_abnormal_eye_pigmentation	0.83747583
92	MP0002277_abnormal_respiratory_mucosa	0.82665711
93	MP0005365_abnormal_bile_salt	0.82077669
94	MP0005332_abnormal_amino_acid	0.80896994
95	MP0008775_abnormal_heart_ventricle	0.80702527
96	MP0002752_abnormal_somatic_nervous	0.80264044
97	MP0000026_abnormal_inner_ear	0.79530319
98	MP0001963_abnormal_hearing_physiology	0.79487143
99	MP0002229_neurodegeneration	0.78625510
100	MP0003121_genomic_imprinting	0.77679273

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	4.60591900
2	Pancreatic cysts (HP:0001737)	4.44266581
3	Abnormality of midbrain morphology (HP:0002418)	4.13415694
4	Molar tooth sign on MRI (HP:0002419)	4.13415694
5	Pancreatic fibrosis (HP:0100732)	3.91195076
6	True hermaphroditism (HP:0010459)	3.77018985
7	Nephronophthisis (HP:0000090)	3.73782707
8	Attenuation of retinal blood vessels (HP:0007843)	3.53317263
9	Abnormality of the renal medulla (HP:0100957)	3.29145947
10	Type II lissencephaly (HP:0007260)	3.27035761
11	Abnormality of the renal cortex (HP:0011035)	3.26146686
12	Abnormal rod and cone electroretinograms (HP:0008323)	3.11902565
13	Abolished electroretinogram (ERG) (HP:0000550)	3.05974353
14	Decreased central vision (HP:0007663)	2.93822056
15	Tubular atrophy (HP:0000092)	2.89934457
16	Medial flaring of the eyebrow (HP:0010747)	2.85219957
17	Polydipsia (HP:0001959)	2.84038985
18	Abnormal drinking behavior (HP:0030082)	2.84038985
19	Pendular nystagmus (HP:0012043)	2.81618952
20	Chronic hepatic failure (HP:0100626)	2.77590453
21	Hyperventilation (HP:0002883)	2.76039198
22	Cystic liver disease (HP:0006706)	2.71893784
23	Bony spicule pigmentary retinopathy (HP:0007737)	2.63304859
24	Inability to walk (HP:0002540)	2.62147211
25	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.53488318
26	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.46235387
27	Abnormality of alanine metabolism (HP:0010916)	2.46178840
28	Hyperalaninemia (HP:0003348)	2.46178840
29	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.46178840
30	Progressive inability to walk (HP:0002505)	2.44239429
31	Genetic anticipation (HP:0003743)	2.44220074
32	Cerebellar dysplasia (HP:0007033)	2.38518527
33	Sclerocornea (HP:0000647)	2.30536066
34	Gaze-evoked nystagmus (HP:0000640)	2.30477838
35	Polyuria (HP:0000103)	2.30292709
36	Abnormal biliary tract physiology (HP:0012439)	2.28916536
37	Bile duct proliferation (HP:0001408)	2.28916536
38	Protruding tongue (HP:0010808)	2.26216083
39	Lissencephaly (HP:0001339)	2.25263354
40	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.24111867
41	Absent/shortened dynein arms (HP:0200106)	2.24111867
42	Progressive cerebellar ataxia (HP:0002073)	2.23600118
43	Gait imbalance (HP:0002141)	2.22673215
44	Congenital hepatic fibrosis (HP:0002612)	2.20820065
45	Keratoconus (HP:0000563)	2.20639611
46	Increased corneal curvature (HP:0100692)	2.20639611
47	Chorioretinal atrophy (HP:0000533)	2.19970666
48	Renal cortical cysts (HP:0000803)	2.18011716
49	Congenital primary aphakia (HP:0007707)	2.16954221
50	Hypothermia (HP:0002045)	2.13416529
51	Decreased circulating renin level (HP:0003351)	2.13001408
52	Patellar aplasia (HP:0006443)	2.12904486
53	Large for gestational age (HP:0001520)	2.11439375
54	Abnormality of the pons (HP:0007361)	2.09811786
55	Aplasia/Hypoplasia of the patella (HP:0006498)	2.08169560
56	Anencephaly (HP:0002323)	2.08155170
57	Hypoplasia of the pons (HP:0012110)	2.05776141
58	Nephrogenic diabetes insipidus (HP:0009806)	2.05299637
59	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.03878491
60	Clumsiness (HP:0002312)	2.02256896
61	Furrowed tongue (HP:0000221)	2.01155672
62	Stomach cancer (HP:0012126)	2.01015043
63	Male pseudohermaphroditism (HP:0000037)	2.00709097
64	Hemiparesis (HP:0001269)	1.96736880
65	Mitochondrial inheritance (HP:0001427)	1.96152188
66	Increased CSF lactate (HP:0002490)	1.94968746
67	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.94925176
68	Rib fusion (HP:0000902)	1.93333808
69	Broad-based gait (HP:0002136)	1.91923410
70	Febrile seizures (HP:0002373)	1.91658980
71	Severe muscular hypotonia (HP:0006829)	1.91370490
72	Mesangial abnormality (HP:0001966)	1.91328119
73	Abnormal urine output (HP:0012590)	1.87611806
74	Lipid accumulation in hepatocytes (HP:0006561)	1.86428500
75	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.85219845
76	Optic disc pallor (HP:0000543)	1.83893932
77	Congenital, generalized hypertrichosis (HP:0004540)	1.82810846
78	Fair hair (HP:0002286)	1.82385352
79	Congenital sensorineural hearing impairment (HP:0008527)	1.81648653
80	Pachygyria (HP:0001302)	1.81063172
81	Absent speech (HP:0001344)	1.80586472
82	3-Methylglutaconic aciduria (HP:0003535)	1.80572024
83	Abnormal respiratory motile cilium morphology (HP:0005938)	1.80192543
84	Abnormal respiratory epithelium morphology (HP:0012253)	1.80192543
85	Genital tract atresia (HP:0001827)	1.78480077
86	Abnormality of macular pigmentation (HP:0008002)	1.77973628
87	Retinitis pigmentosa (HP:0000510)	1.77841626
88	Postaxial foot polydactyly (HP:0001830)	1.76903565
89	Concave nail (HP:0001598)	1.76087533
90	Asplenia (HP:0001746)	1.73068211
91	Ketosis (HP:0001946)	1.71528862
92	Vaginal atresia (HP:0000148)	1.70790078
93	Constricted visual fields (HP:0001133)	1.70350940
94	Retinal dysplasia (HP:0007973)	1.69647902
95	Tachypnea (HP:0002789)	1.68542129
96	Hepatocellular necrosis (HP:0001404)	1.67663164
97	Acute necrotizing encephalopathy (HP:0006965)	1.66536699
98	Abnormality of renal excretion (HP:0011036)	1.66290833
99	Methylmalonic acidemia (HP:0002912)	1.66247377
100	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.65927798

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.12224221
2	ADRBK2	3.50186721
3	BMPR1B	2.99492611
4	WNK4	2.97855267
5	TAOK3	2.90665654
6	GRK1	2.67669681
7	ACVR1B	2.57908270
8	MAP4K2	2.56864295
9	TLK1	2.54133906
10	WNK3	2.41904240
11	NUAK1	2.39589676
12	ZAK	2.36302878
13	INSRR	2.30755003
14	TXK	2.03836933
15	MAPK13	1.85067506
16	PINK1	1.74194886
17	OXSR1	1.67307674
18	STK39	1.66730758
19	DAPK2	1.60688910
20	CASK	1.50065562
21	MAPK15	1.39942352
22	MAP3K4	1.39057750
23	ADRBK1	1.34104073
24	MKNK2	1.03437268
25	PAK3	1.02056669
26	MUSK	1.00026426
27	BCKDK	0.99255565
28	TGFBR1	0.98735539
29	NTRK3	0.97658262
30	MARK1	0.95935308
31	IKBKB	0.95635857
32	MAP2K6	0.91689341
33	CAMKK2	0.89987783
34	PRKCG	0.86771133
35	TEC	0.86627842
36	PRKCE	0.85432143
37	TIE1	0.84975572
38	TNIK	0.82494778
39	DYRK2	0.82494362
40	FGFR2	0.82044772
41	TNK2	0.81912654
42	SIK2	0.80885397
43	KIT	0.78925839
44	MAPKAPK3	0.75501732
45	PRKCQ	0.74013033
46	VRK1	0.73507865
47	CSNK1G1	0.70562703
48	CSNK1G2	0.67505122
49	STK16	0.67242849
50	ITK	0.66221792
51	MAP2K7	0.65983596
52	TRIM28	0.64994198
53	STK38L	0.64812604
54	PIK3CA	0.64473602
55	CSNK1G3	0.64035730
56	PHKG1	0.63086880
57	PHKG2	0.63086880
58	PNCK	0.62551676
59	PTK2B	0.62547213
60	MAPKAPK5	0.60975849
61	RPS6KA5	0.58399857
62	STK11	0.56834005
63	SYK	0.55824728
64	PLK2	0.54416244
65	CSNK1A1L	0.54355584
66	NLK	0.52664669
67	NTRK2	0.51804481
68	CAMK1	0.50485215
69	CHUK	0.50180051
70	MARK3	0.49738952
71	IRAK1	0.48287754
72	MAP4K1	0.48091623
73	IKBKE	0.47364209
74	PRKCI	0.47141327
75	PRKACA	0.46848646
76	EPHA4	0.46557987
77	RPS6KA6	0.43907365
78	PRKAA2	0.43695930
79	CAMK2A	0.43653457
80	MAP2K2	0.40535750
81	PKN1	0.39516231
82	MKNK1	0.39141145
83	CSNK1A1	0.39084017
84	FLT3	0.38724374
85	CSNK1D	0.37095436
86	PRKCA	0.37067627
87	VRK2	0.37034449
88	BRSK2	0.36891352
89	PRKCH	0.35219332
90	PRKCZ	0.35110998
91	PRKAA1	0.35034874
92	WNK1	0.34427463
93	STK3	0.34219784
94	MAP3K7	0.32803874
95	LYN	0.31611724
96	DYRK1A	0.31489982
97	LCK	0.29707007
98	CAMK1D	0.29058337
99	PRKG1	0.28849318
100	NEK2	0.28810560

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.88192592
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.84176596
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.79679529
4	Nitrogen metabolism_Homo sapiens_hsa00910	2.54780716
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.40960358
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.38096264
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.36590089
8	Butanoate metabolism_Homo sapiens_hsa00650	2.26478848
9	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.16173162
10	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.07397690
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.05378254
12	Nicotine addiction_Homo sapiens_hsa05033	2.04832633
13	Ether lipid metabolism_Homo sapiens_hsa00565	1.96259991
14	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.92452367
15	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.81877332
16	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.81676432
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.80933429
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.78422801
19	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.69198325
20	Oxidative phosphorylation_Homo sapiens_hsa00190	1.65931933
21	Homologous recombination_Homo sapiens_hsa03440	1.63916270
22	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.62498032
23	Fanconi anemia pathway_Homo sapiens_hsa03460	1.59177482
24	Basal transcription factors_Homo sapiens_hsa03022	1.52881876
25	Caffeine metabolism_Homo sapiens_hsa00232	1.46475359
26	RNA polymerase_Homo sapiens_hsa03020	1.43539788
27	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.33401244
28	Taste transduction_Homo sapiens_hsa04742	1.32015985
29	Olfactory transduction_Homo sapiens_hsa04740	1.31733648
30	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.28900926
31	ABC transporters_Homo sapiens_hsa02010	1.27927287
32	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.22266375
33	Primary immunodeficiency_Homo sapiens_hsa05340	1.21377298
34	Morphine addiction_Homo sapiens_hsa05032	1.20659205
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.20300006
36	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.18926745
37	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.17739165
38	Protein export_Homo sapiens_hsa03060	1.17242792
39	Parkinsons disease_Homo sapiens_hsa05012	1.13647813
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.13547526
41	Peroxisome_Homo sapiens_hsa04146	1.13449485
42	Propanoate metabolism_Homo sapiens_hsa00640	1.09762406
43	One carbon pool by folate_Homo sapiens_hsa00670	1.06868714
44	Regulation of autophagy_Homo sapiens_hsa04140	1.04898639
45	Asthma_Homo sapiens_hsa05310	1.03785242
46	Insulin secretion_Homo sapiens_hsa04911	1.01676338
47	Retinol metabolism_Homo sapiens_hsa00830	0.99400065
48	RNA degradation_Homo sapiens_hsa03018	0.98966277
49	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.98037666
50	Circadian entrainment_Homo sapiens_hsa04713	0.95557895
51	Sulfur relay system_Homo sapiens_hsa04122	0.93619897
52	Serotonergic synapse_Homo sapiens_hsa04726	0.88911308
53	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.88888970
54	Glycerolipid metabolism_Homo sapiens_hsa00561	0.86576590
55	Glutamatergic synapse_Homo sapiens_hsa04724	0.85278184
56	Fat digestion and absorption_Homo sapiens_hsa04975	0.85116104
57	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84760304
58	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.84041151
59	GABAergic synapse_Homo sapiens_hsa04727	0.82488439
60	Huntingtons disease_Homo sapiens_hsa05016	0.80239219
61	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.77034164
62	Type I diabetes mellitus_Homo sapiens_hsa04940	0.73805083
63	Cardiac muscle contraction_Homo sapiens_hsa04260	0.72760533
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.72377888
65	Calcium signaling pathway_Homo sapiens_hsa04020	0.72356916
66	Salivary secretion_Homo sapiens_hsa04970	0.69218289
67	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.67947862
68	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.67638257
69	Graft-versus-host disease_Homo sapiens_hsa05332	0.67330520
70	Alzheimers disease_Homo sapiens_hsa05010	0.65013456
71	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.63242357
72	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.62991929
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.60826384
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.59353890
75	Allograft rejection_Homo sapiens_hsa05330	0.59230741
76	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.58949709
77	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.58507896
78	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.58332087
79	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.58189101
80	Histidine metabolism_Homo sapiens_hsa00340	0.55790506
81	Metabolic pathways_Homo sapiens_hsa01100	0.55102982
82	Purine metabolism_Homo sapiens_hsa00230	0.55056862
83	Collecting duct acid secretion_Homo sapiens_hsa04966	0.53629461
84	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.52843551
85	Sulfur metabolism_Homo sapiens_hsa00920	0.51911476
86	Fatty acid degradation_Homo sapiens_hsa00071	0.48129228
87	Mineral absorption_Homo sapiens_hsa04978	0.47461416
88	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.45788967
89	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.44120577
90	Sphingolipid metabolism_Homo sapiens_hsa00600	0.40596897
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.40093386
92	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.37367638
93	Long-term depression_Homo sapiens_hsa04730	0.36908832
94	Pyrimidine metabolism_Homo sapiens_hsa00240	0.36652314
95	Cholinergic synapse_Homo sapiens_hsa04725	0.36322716
96	Circadian rhythm_Homo sapiens_hsa04710	0.35425216
97	Non-homologous end-joining_Homo sapiens_hsa03450	0.34149654
98	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.32658291
99	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.29856872
100	Ribosome_Homo sapiens_hsa03010	0.28260813

TRIM73

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)

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