ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.46649981
2	piRNA metabolic process (GO:0034587)	4.31621307
3	L-fucose catabolic process (GO:0042355)	4.28869000
4	fucose catabolic process (GO:0019317)	4.28869000
5	L-fucose metabolic process (GO:0042354)	4.28869000
6	DNA deamination (GO:0045006)	4.21834943
7	indolalkylamine metabolic process (GO:0006586)	4.13228724
8	tryptophan catabolic process (GO:0006569)	4.01480544
9	indole-containing compound catabolic process (GO:0042436)	4.01480544
10	indolalkylamine catabolic process (GO:0046218)	4.01480544
11	response to pheromone (GO:0019236)	3.78587060
12	tryptophan metabolic process (GO:0006568)	3.69743073
13	platelet dense granule organization (GO:0060155)	3.60052614
14	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.59483701
15	kynurenine metabolic process (GO:0070189)	3.56484206
16	regulation of memory T cell differentiation (GO:0043380)	3.55406803
17	preassembly of GPI anchor in ER membrane (GO:0016254)	3.49325744
18	water-soluble vitamin biosynthetic process (GO:0042364)	3.45758856
19	NADH dehydrogenase complex assembly (GO:0010257)	3.37604643
20	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.37604643
21	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.37604643
22	detection of light stimulus involved in sensory perception (GO:0050962)	3.37557539
23	detection of light stimulus involved in visual perception (GO:0050908)	3.37557539
24	protein complex biogenesis (GO:0070271)	3.28993469
25	DNA methylation involved in gamete generation (GO:0043046)	3.26645358
26	cellular ketone body metabolic process (GO:0046950)	3.16483828
27	adaptation of signaling pathway (GO:0023058)	3.15943582
28	indole-containing compound metabolic process (GO:0042430)	3.11633370
29	neuronal action potential (GO:0019228)	3.11052779
30	behavioral response to ethanol (GO:0048149)	3.10468401
31	protein-cofactor linkage (GO:0018065)	3.03935742
32	mitochondrial respiratory chain complex assembly (GO:0033108)	3.02725477
33	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.01771489
34	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.95592045
35	regulation of action potential (GO:0098900)	2.95222446
36	gamma-aminobutyric acid transport (GO:0015812)	2.94836171
37	ketone body metabolic process (GO:1902224)	2.91479172
38	male meiosis I (GO:0007141)	2.90630271
39	amine catabolic process (GO:0009310)	2.90356252
40	cellular biogenic amine catabolic process (GO:0042402)	2.90356252
41	neural tube formation (GO:0001841)	2.89634811
42	negative regulation of telomere maintenance (GO:0032205)	2.88739323
43	axoneme assembly (GO:0035082)	2.87173784
44	negative regulation of mast cell activation (GO:0033004)	2.83837516
45	dopamine transport (GO:0015872)	2.82614722
46	synaptic transmission, cholinergic (GO:0007271)	2.81607077
47	respiratory chain complex IV assembly (GO:0008535)	2.75919115
48	proline transport (GO:0015824)	2.75835904
49	retinal cone cell development (GO:0046549)	2.73981083
50	NAD biosynthetic process (GO:0009435)	2.68282019
51	multicellular organism reproduction (GO:0032504)	2.66560996
52	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.66353917
53	cornea development in camera-type eye (GO:0061303)	2.65788449
54	regulation of hexokinase activity (GO:1903299)	2.65743093
55	regulation of glucokinase activity (GO:0033131)	2.65743093
56	positive regulation of prostaglandin secretion (GO:0032308)	2.63530290
57	epithelial cilium movement (GO:0003351)	2.61650809
58	protein localization to cilium (GO:0061512)	2.61111845
59	cytochrome complex assembly (GO:0017004)	2.58488734
60	GPI anchor metabolic process (GO:0006505)	2.57910679
61	ubiquinone biosynthetic process (GO:0006744)	2.57536624
62	negative regulation of multicellular organism growth (GO:0040015)	2.57313291
63	protein K11-linked deubiquitination (GO:0035871)	2.56081976
64	positive regulation of defense response to virus by host (GO:0002230)	2.55838185
65	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.54766959
66	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.53392272
67	reflex (GO:0060004)	2.53343498
68	positive regulation of fatty acid transport (GO:2000193)	2.52875239
69	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.51581663
70	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.51147946
71	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.51147946
72	auditory receptor cell stereocilium organization (GO:0060088)	2.50780706
73	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.49459609
74	mannosylation (GO:0097502)	2.48940342
75	primary amino compound metabolic process (GO:1901160)	2.47232572
76	male meiosis (GO:0007140)	2.46742592
77	cilium morphogenesis (GO:0060271)	2.46389903
78	rRNA catabolic process (GO:0016075)	2.43905307
79	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.42658142
80	rhodopsin mediated signaling pathway (GO:0016056)	2.42624549
81	nonmotile primary cilium assembly (GO:0035058)	2.41728914
82	cell wall macromolecule catabolic process (GO:0016998)	2.41330438
83	photoreceptor cell maintenance (GO:0045494)	2.40012471
84	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.39330608
85	serotonin metabolic process (GO:0042428)	2.38627196
86	ubiquinone metabolic process (GO:0006743)	2.37799913
87	regulation of cilium movement (GO:0003352)	2.37774375
88	sulfation (GO:0051923)	2.37216618
89	photoreceptor cell development (GO:0042461)	2.36790545
90	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.34708511
91	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.34685775
92	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.34503921
93	glycerophospholipid catabolic process (GO:0046475)	2.33743851
94	protein polyglutamylation (GO:0018095)	2.33578197
95	reciprocal meiotic recombination (GO:0007131)	2.33094456
96	reciprocal DNA recombination (GO:0035825)	2.33094456
97	kidney morphogenesis (GO:0060993)	2.32442979
98	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.31838456
99	cilium or flagellum-dependent cell motility (GO:0001539)	2.30843973
100	somite rostral/caudal axis specification (GO:0032525)	2.30038184

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.08350195
2	VDR_22108803_ChIP-Seq_LS180_Human	3.41793403
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.04840275
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.70252974
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.67908736
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.47713301
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.46913247
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.35790534
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.28235174
10	* POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.23265344
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.11576525
12	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.08572122
13	TAF15_26573619_Chip-Seq_HEK293_Human	2.01871790
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.00090864
15	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.99901609
16	ER_23166858_ChIP-Seq_MCF-7_Human	1.93165761
17	FUS_26573619_Chip-Seq_HEK293_Human	1.88306833
18	P300_19829295_ChIP-Seq_ESCs_Human	1.86850567
19	EWS_26573619_Chip-Seq_HEK293_Human	1.84481404
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79012164
21	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.78206046
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.71312884
23	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.70034004
24	TP53_22573176_ChIP-Seq_HFKS_Human	1.67616804
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.66824204
26	* BCAT_22108803_ChIP-Seq_LS180_Human	1.62098364
27	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.55024590
28	* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.51289032
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.47742484
30	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.47624971
31	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.44019899
32	REST_21632747_ChIP-Seq_MESCs_Mouse	1.43136396
33	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.41425654
34	STAT3_23295773_ChIP-Seq_U87_Human	1.41319014
35	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.40714136
36	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.40714136
37	IRF1_19129219_ChIP-ChIP_H3396_Human	1.40219384
38	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.37966648
39	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.37966648
40	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.37926542
41	TCF4_23295773_ChIP-Seq_U87_Human	1.37370767
42	NANOG_19829295_ChIP-Seq_ESCs_Human	1.37370652
43	SOX2_19829295_ChIP-Seq_ESCs_Human	1.37370652
44	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37206755
45	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.36335029
46	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.36213028
47	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.35335151
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.35335151
49	AR_25329375_ChIP-Seq_VCAP_Human	1.33130146
50	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32937451
51	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.32359198
52	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.32164411
53	MYC_18940864_ChIP-ChIP_HL60_Human	1.29995343
54	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.29536567
55	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.29187090
56	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.29083450
57	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.28698006
58	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.28465114
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.28129294
60	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27778541
61	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.27436577
62	* SMAD4_21799915_ChIP-Seq_A2780_Human	1.26105394
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.25874114
64	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.24534897
65	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.24502862
66	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23925041
67	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.22564223
68	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.22094382
69	* TCF4_22108803_ChIP-Seq_LS180_Human	1.20175022
70	RUNX2_22187159_ChIP-Seq_PCA_Human	1.19653347
71	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.18042704
72	AR_20517297_ChIP-Seq_VCAP_Human	1.17712027
73	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.17004253
74	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.15583803
75	NCOR_22424771_ChIP-Seq_293T_Human	1.13575988
76	* SMAD3_21741376_ChIP-Seq_EPCs_Human	1.09217747
77	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.09175148
78	RNF2_27304074_Chip-Seq_NSC_Mouse	1.09037192
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.07562833
80	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.07478025
81	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.07050327
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.06665092
83	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05521446
84	VDR_23849224_ChIP-Seq_CD4+_Human	1.04695556
85	* PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.04574241
86	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03462738
87	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.03188614
88	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.03120491
89	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.01826801
90	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.00423030
91	NANOG_20526341_ChIP-Seq_ESCs_Human	1.00333903
92	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.99838749
93	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.99781834
94	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.99332984
95	AR_21572438_ChIP-Seq_LNCaP_Human	0.99033469
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.98542194
97	MYC_19829295_ChIP-Seq_ESCs_Human	0.98180163
98	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.97740123
99	CDX2_22108803_ChIP-Seq_LS180_Human	0.97399365
100	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96889810

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.12600978
2	MP0003195_calcinosis	3.06415997
3	MP0001968_abnormal_touch/_nociception	2.54191882
4	MP0003011_delayed_dark_adaptation	2.47672542
5	MP0002102_abnormal_ear_morphology	2.45281917
6	MP0005551_abnormal_eye_electrophysiolog	2.38088194
7	MP0001986_abnormal_taste_sensitivity	2.36375911
8	MP0000569_abnormal_digit_pigmentation	2.32965522
9	MP0002837_dystrophic_cardiac_calcinosis	2.32212886
10	MP0003787_abnormal_imprinting	2.27821470
11	MP0008875_abnormal_xenobiotic_pharmacok	2.21129975
12	MP0009745_abnormal_behavioral_response	2.10646114
13	MP0009046_muscle_twitch	2.05140578
14	MP0002736_abnormal_nociception_after	2.04254206
15	MP0006072_abnormal_retinal_apoptosis	2.03637631
16	MP0005645_abnormal_hypothalamus_physiol	1.92020668
17	MP0002876_abnormal_thyroid_physiology	1.91023236
18	MP0004147_increased_porphyrin_level	1.89315593
19	MP0005646_abnormal_pituitary_gland	1.82980968
20	MP0005253_abnormal_eye_physiology	1.81059656
21	MP0004142_abnormal_muscle_tone	1.78598696
22	MP0004885_abnormal_endolymph	1.77402332
23	MP0008872_abnormal_physiological_respon	1.76132494
24	MP0002272_abnormal_nervous_system	1.74037463
25	MP0001501_abnormal_sleep_pattern	1.72185813
26	MP0003646_muscle_fatigue	1.64178145
27	MP0003136_yellow_coat_color	1.63756157
28	MP0005174_abnormal_tail_pigmentation	1.61115710
29	MP0001486_abnormal_startle_reflex	1.59946782
30	MP0006292_abnormal_olfactory_placode	1.59690201
31	MP0002638_abnormal_pupillary_reflex	1.58641703
32	MP0002653_abnormal_ependyma_morphology	1.52752490
33	MP0005075_abnormal_melanosome_morpholog	1.52310108
34	MP0000427_abnormal_hair_cycle	1.52231010
35	MP0004043_abnormal_pH_regulation	1.51837299
36	MP0000372_irregular_coat_pigmentation	1.42809333
37	MP0003252_abnormal_bile_duct	1.41042401
38	MP0005084_abnormal_gallbladder_morpholo	1.40264586
39	MP0002064_seizures	1.40084737
40	MP0002733_abnormal_thermal_nociception	1.36251879
41	MP0004133_heterotaxia	1.31632841
42	MP0002735_abnormal_chemical_nociception	1.31269797
43	MP0001970_abnormal_pain_threshold	1.28185914
44	MP0002572_abnormal_emotion/affect_behav	1.27491717
45	MP0006276_abnormal_autonomic_nervous	1.27061423
46	MP0000631_abnormal_neuroendocrine_gland	1.24318667
47	MP0001905_abnormal_dopamine_level	1.22903965
48	MP0003880_abnormal_central_pattern	1.21742491
49	MP0001485_abnormal_pinna_reflex	1.18512785
50	MP0004742_abnormal_vestibular_system	1.16300886
51	MP0001984_abnormal_olfaction	1.16219896
52	MP0005379_endocrine/exocrine_gland_phen	1.15172405
53	MP0002928_abnormal_bile_duct	1.13884440
54	MP0004924_abnormal_behavior	1.11813175
55	MP0005386_behavior/neurological_phenoty	1.11813175
56	MP0002067_abnormal_sensory_capabilities	1.11327612
57	MP0002095_abnormal_skin_pigmentation	1.06617804
58	MP0005167_abnormal_blood-brain_barrier	1.05222176
59	MP0002277_abnormal_respiratory_mucosa	1.02916497
60	MP0002693_abnormal_pancreas_physiology	1.02616673
61	MP0005085_abnormal_gallbladder_physiolo	1.02141916
62	MP0002938_white_spotting	1.01224835
63	MP0000015_abnormal_ear_pigmentation	1.01005545
64	MP0002557_abnormal_social/conspecific_i	0.99634660
65	MP0003635_abnormal_synaptic_transmissio	0.98202585
66	MP0000230_abnormal_systemic_arterial	0.97039332
67	MP0000383_abnormal_hair_follicle	0.96993190
68	MP0005671_abnormal_response_to	0.96974396
69	MP0002909_abnormal_adrenal_gland	0.96506733
70	MP0001324_abnormal_eye_pigmentation	0.95941379
71	MP0005389_reproductive_system_phenotype	0.95468482
72	MP0010386_abnormal_urinary_bladder	0.95346436
73	MP0005377_hearing/vestibular/ear_phenot	0.93800214
74	MP0003878_abnormal_ear_physiology	0.93800214
75	MP0003718_maternal_effect	0.93057226
76	MP0002063_abnormal_learning/memory/cond	0.91634892
77	MP0001529_abnormal_vocalization	0.91515073
78	MP0002163_abnormal_gland_morphology	0.87860152
79	MP0003724_increased_susceptibility_to	0.87773523
80	MP0004145_abnormal_muscle_electrophysio	0.87448705
81	MP0005195_abnormal_posterior_eye	0.86724151
82	MP0008058_abnormal_DNA_repair	0.85307240
83	MP0005410_abnormal_fertilization	0.84582173
84	MP0009764_decreased_sensitivity_to	0.83671075
85	MP0002229_neurodegeneration	0.83402114
86	MP0002160_abnormal_reproductive_system	0.83074033
87	MP0003121_genomic_imprinting	0.82687609
88	MP0001764_abnormal_homeostasis	0.80693049
89	MP0008995_early_reproductive_senescence	0.80272364
90	MP0005332_abnormal_amino_acid	0.79846311
91	MP0002148_abnormal_hypersensitivity_rea	0.79065686
92	MP0002751_abnormal_autonomic_nervous	0.78777159
93	MP0003122_maternal_imprinting	0.77015111
94	MP0001919_abnormal_reproductive_system	0.76686743
95	MP0003698_abnormal_male_reproductive	0.73028402
96	MP0001835_abnormal_antigen_presentation	0.72623994
97	MP0002234_abnormal_pharynx_morphology	0.72459600
98	MP0010329_abnormal_lipoprotein_level	0.70571978
99	MP0001929_abnormal_gametogenesis	0.70394044
100	MP0002752_abnormal_somatic_nervous	0.69932227

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	4.35979846
2	Pancreatic cysts (HP:0001737)	4.18947922
3	Molar tooth sign on MRI (HP:0002419)	3.91901282
4	Abnormality of midbrain morphology (HP:0002418)	3.91901282
5	True hermaphroditism (HP:0010459)	3.78157155
6	Pancreatic fibrosis (HP:0100732)	3.76867361
7	Type II lissencephaly (HP:0007260)	3.53925225
8	Nephronophthisis (HP:0000090)	3.53795397
9	Abolished electroretinogram (ERG) (HP:0000550)	3.16692792
10	Attenuation of retinal blood vessels (HP:0007843)	3.02351837
11	Abnormality of the renal medulla (HP:0100957)	2.97003864
12	Gaze-evoked nystagmus (HP:0000640)	2.96964396
13	Hyperventilation (HP:0002883)	2.90051046
14	Abnormality of the renal cortex (HP:0011035)	2.85854898
15	Pendular nystagmus (HP:0012043)	2.82070850
16	Medial flaring of the eyebrow (HP:0010747)	2.81847125
17	Inability to walk (HP:0002540)	2.78849601
18	Abnormal rod and cone electroretinograms (HP:0008323)	2.77383908
19	Large for gestational age (HP:0001520)	2.74465048
20	Progressive inability to walk (HP:0002505)	2.69187929
21	Genetic anticipation (HP:0003743)	2.63858342
22	Progressive cerebellar ataxia (HP:0002073)	2.60976315
23	3-Methylglutaconic aciduria (HP:0003535)	2.52783389
24	Hypothermia (HP:0002045)	2.49748666
25	Polydipsia (HP:0001959)	2.47292547
26	Abnormal drinking behavior (HP:0030082)	2.47292547
27	Tubular atrophy (HP:0000092)	2.46913238
28	Cystic liver disease (HP:0006706)	2.43609234
29	Acute necrotizing encephalopathy (HP:0006965)	2.36682130
30	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.34854405
31	Absent/shortened dynein arms (HP:0200106)	2.34854405
32	Broad-based gait (HP:0002136)	2.33184463
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.32773040
34	Abnormality of alanine metabolism (HP:0010916)	2.32773040
35	Hyperalaninemia (HP:0003348)	2.32773040
36	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.31168078
37	Mitochondrial inheritance (HP:0001427)	2.31052610
38	Cerebellar dysplasia (HP:0007033)	2.26486657
39	Lissencephaly (HP:0001339)	2.25911085
40	Stomatitis (HP:0010280)	2.24431913
41	Increased CSF lactate (HP:0002490)	2.23892005
42	Congenital, generalized hypertrichosis (HP:0004540)	2.22232175
43	Abnormal biliary tract physiology (HP:0012439)	2.21788296
44	Bile duct proliferation (HP:0001408)	2.21788296
45	Gait imbalance (HP:0002141)	2.19110681
46	Keratoconus (HP:0000563)	2.19072239
47	Increased corneal curvature (HP:0100692)	2.19072239
48	Acute encephalopathy (HP:0006846)	2.18568331
49	Decreased central vision (HP:0007663)	2.15777215
50	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.15466253
51	Sclerocornea (HP:0000647)	2.13602909
52	Progressive macrocephaly (HP:0004481)	2.12904339
53	Congenital primary aphakia (HP:0007707)	2.09390186
54	Febrile seizures (HP:0002373)	2.08763779
55	Nephrogenic diabetes insipidus (HP:0009806)	2.08024270
56	Chronic hepatic failure (HP:0100626)	2.07424948
57	Focal motor seizures (HP:0011153)	2.05648024
58	Polyuria (HP:0000103)	2.04823161
59	Furrowed tongue (HP:0000221)	2.02852157
60	Male pseudohermaphroditism (HP:0000037)	2.01403077
61	Optic disc pallor (HP:0000543)	2.01315429
62	Lipid accumulation in hepatocytes (HP:0006561)	1.99489526
63	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.99278646
64	Concave nail (HP:0001598)	1.98749330
65	Dialeptic seizures (HP:0011146)	1.97767610
66	Anencephaly (HP:0002323)	1.97202066
67	Renal cortical cysts (HP:0000803)	1.96954383
68	Congenital hepatic fibrosis (HP:0002612)	1.96939970
69	Hemiparesis (HP:0001269)	1.96297544
70	Abnormal mitochondria in muscle tissue (HP:0008316)	1.90933167
71	Focal seizures (HP:0007359)	1.89704044
72	Abnormal respiratory motile cilium morphology (HP:0005938)	1.88324632
73	Abnormal respiratory epithelium morphology (HP:0012253)	1.88324632
74	Severe muscular hypotonia (HP:0006829)	1.88185257
75	Intestinal atresia (HP:0011100)	1.88059276
76	Retinal dysplasia (HP:0007973)	1.87616422
77	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.87234739
78	Abnormality of macular pigmentation (HP:0008002)	1.87175238
79	Hepatocellular necrosis (HP:0001404)	1.86571748
80	Agitation (HP:0000713)	1.84715518
81	Abnormality of the pons (HP:0007361)	1.84508987
82	Optic nerve hypoplasia (HP:0000609)	1.83758768
83	Retinitis pigmentosa (HP:0000510)	1.81321184
84	Ketoacidosis (HP:0001993)	1.79425964
85	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.79096821
86	Hepatic necrosis (HP:0002605)	1.78695303
87	Bony spicule pigmentary retinopathy (HP:0007737)	1.78481209
88	Hypomagnesemia (HP:0002917)	1.77773509
89	Ketosis (HP:0001946)	1.76666758
90	Hypoplasia of the pons (HP:0012110)	1.76348213
91	Chorioretinal atrophy (HP:0000533)	1.76049147
92	Congenital sensorineural hearing impairment (HP:0008527)	1.75759902
93	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.75329426
94	Decreased circulating renin level (HP:0003351)	1.73733332
95	Thyroid-stimulating hormone excess (HP:0002925)	1.73435882
96	Genital tract atresia (HP:0001827)	1.71937657
97	Disproportionate short-trunk short stature (HP:0003521)	1.71808821
98	Pachygyria (HP:0001302)	1.71608527
99	Progressive microcephaly (HP:0000253)	1.71120316
100	Hyperglycinuria (HP:0003108)	1.70359851

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.21585009
2	ADRBK2	3.89190803
3	TAOK3	3.45211037
4	BMPR1B	3.08703477
5	MAP4K2	2.82862356
6	PINK1	2.67648878
7	ACVR1B	2.57379816
8	WNK3	2.49900039
9	GRK1	2.36901750
10	TXK	2.35511363
11	NUAK1	2.23434668
12	ZAK	2.21852997
13	OXSR1	1.92421487
14	MAPK13	1.90724100
15	INSRR	1.88634244
16	WNK4	1.85545295
17	TLK1	1.76618901
18	CDK19	1.67876879
19	CASK	1.65622277
20	DAPK2	1.49647115
21	PNCK	1.44222042
22	ADRBK1	1.29566011
23	DYRK2	1.15983794
24	KIT	1.13441377
25	TGFBR1	1.12085041
26	TNIK	1.07416575
27	MAPK15	1.06314503
28	BCKDK	1.03761233
29	VRK1	0.96451941
30	IKBKB	0.95768424
31	MAP3K4	0.95150873
32	STK39	0.94249379
33	NTRK3	0.94139707
34	PAK3	0.90991411
35	PRKCG	0.90239278
36	MKNK2	0.88068146
37	IRAK1	0.87671126
38	TRIM28	0.86114553
39	CSNK1G2	0.81966171
40	PRKCE	0.80991533
41	TNK2	0.80167351
42	MARK1	0.78039195
43	MAP2K2	0.76884235
44	PTK2B	0.73756746
45	CSNK1G3	0.72943395
46	GRK7	0.71865021
47	TEC	0.71722179
48	PHKG2	0.70563473
49	PHKG1	0.70563473
50	MAPKAPK5	0.70429144
51	VRK2	0.68572565
52	PRKCQ	0.65937724
53	SYK	0.64925270
54	MAPKAPK3	0.63771964
55	CSF1R	0.62640723
56	CSNK1G1	0.62625232
57	STK11	0.62056187
58	TIE1	0.61221178
59	RPS6KA5	0.60301768
60	MST4	0.59653249
61	IKBKE	0.59225323
62	MAP2K6	0.58725857
63	TSSK6	0.58230967
64	CAMKK2	0.57006756
65	TAF1	0.56609785
66	GRK5	0.56442880
67	FGFR2	0.55837822
68	MAP3K12	0.53242121
69	GRK6	0.48872551
70	NME1	0.48460864
71	NTRK2	0.48440442
72	MUSK	0.48225132
73	STK16	0.47329478
74	CSNK1A1L	0.47199461
75	PRKACA	0.45521325
76	NEK2	0.44137083
77	LYN	0.44044282
78	PKN1	0.43793030
79	MAP2K7	0.43001858
80	CHUK	0.42878881
81	MAP2K1	0.42662439
82	ITK	0.42504482
83	MAP4K1	0.42044117
84	CAMK2A	0.41684524
85	MKNK1	0.40911829
86	PIK3CA	0.40572937
87	PRKG1	0.39462014
88	NLK	0.39313790
89	PRKCI	0.38430521
90	ERBB3	0.37408407
91	PLK2	0.36223847
92	SIK2	0.35250030
93	PRKCZ	0.34579483
94	STK38L	0.34374094
95	WEE1	0.34124671
96	CSNK1A1	0.33999874
97	MATK	0.33409589
98	EPHA3	0.33198374
99	PRKCA	0.32782784
100	PLK3	0.31680651

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.69961941
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.54547308
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.39361974
4	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.38471131
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.29809715
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.26626962
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.17191630
8	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.17006060
9	Butanoate metabolism_Homo sapiens_hsa00650	2.16865211
10	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.12305489
11	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.12273988
12	Selenocompound metabolism_Homo sapiens_hsa00450	2.07263741
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.05893008
14	Nicotine addiction_Homo sapiens_hsa05033	2.02724154
15	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.02025946
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.94443244
17	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.93244530
18	Asthma_Homo sapiens_hsa05310	1.93065328
19	Tryptophan metabolism_Homo sapiens_hsa00380	1.83223672
20	Parkinsons disease_Homo sapiens_hsa05012	1.77966935
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.76803176
22	RNA polymerase_Homo sapiens_hsa03020	1.74809852
23	Protein export_Homo sapiens_hsa03060	1.70355040
24	Homologous recombination_Homo sapiens_hsa03440	1.61140952
25	Basal transcription factors_Homo sapiens_hsa03022	1.51758326
26	Olfactory transduction_Homo sapiens_hsa04740	1.50308792
27	Taste transduction_Homo sapiens_hsa04742	1.47212021
28	Caffeine metabolism_Homo sapiens_hsa00232	1.45287047
29	Morphine addiction_Homo sapiens_hsa05032	1.42996583
30	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.40262215
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.36040897
32	Type I diabetes mellitus_Homo sapiens_hsa04940	1.27951131
33	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.25094988
34	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.21417269
35	Allograft rejection_Homo sapiens_hsa05330	1.17110492
36	Graft-versus-host disease_Homo sapiens_hsa05332	1.14631022
37	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.11061804
38	Huntingtons disease_Homo sapiens_hsa05016	1.10871910
39	Peroxisome_Homo sapiens_hsa04146	1.10209917
40	Primary immunodeficiency_Homo sapiens_hsa05340	1.09577926
41	RNA degradation_Homo sapiens_hsa03018	1.09548964
42	Serotonergic synapse_Homo sapiens_hsa04726	1.08454845
43	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.08129298
44	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.07388979
45	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.06874437
46	Chemical carcinogenesis_Homo sapiens_hsa05204	1.04615233
47	Alzheimers disease_Homo sapiens_hsa05010	1.04061270
48	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.03143708
49	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00583245
50	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.00053980
51	Regulation of autophagy_Homo sapiens_hsa04140	0.99849938
52	Cardiac muscle contraction_Homo sapiens_hsa04260	0.99602737
53	GABAergic synapse_Homo sapiens_hsa04727	0.98704308
54	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.97916965
55	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.97372611
56	Propanoate metabolism_Homo sapiens_hsa00640	0.92540534
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.88716442
58	Rheumatoid arthritis_Homo sapiens_hsa05323	0.88386628
59	Circadian entrainment_Homo sapiens_hsa04713	0.87173127
60	Retinol metabolism_Homo sapiens_hsa00830	0.86941547
61	Insulin secretion_Homo sapiens_hsa04911	0.83746505
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.83278520
63	ABC transporters_Homo sapiens_hsa02010	0.82562492
64	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.82436159
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.81090014
66	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.80195007
67	One carbon pool by folate_Homo sapiens_hsa00670	0.79202211
68	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.78545815
69	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.74535944
70	Salivary secretion_Homo sapiens_hsa04970	0.68201911
71	Sulfur metabolism_Homo sapiens_hsa00920	0.65221617
72	Calcium signaling pathway_Homo sapiens_hsa04020	0.63694119
73	Purine metabolism_Homo sapiens_hsa00230	0.62376469
74	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.61356171
75	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.61108572
76	beta-Alanine metabolism_Homo sapiens_hsa00410	0.57195997
77	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.56678759
78	Metabolic pathways_Homo sapiens_hsa01100	0.56143008
79	Histidine metabolism_Homo sapiens_hsa00340	0.56069424
80	Antigen processing and presentation_Homo sapiens_hsa04612	0.54933872
81	Glycerolipid metabolism_Homo sapiens_hsa00561	0.51635983
82	Dopaminergic synapse_Homo sapiens_hsa04728	0.49906782
83	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.47193428
84	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.45706966
85	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.44967434
86	Pyrimidine metabolism_Homo sapiens_hsa00240	0.43087094
87	Mineral absorption_Homo sapiens_hsa04978	0.42986089
88	Fat digestion and absorption_Homo sapiens_hsa04975	0.42752209
89	Long-term depression_Homo sapiens_hsa04730	0.39745355
90	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.39299553
91	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.37899517
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36844103
93	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.36397160
94	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.36361837
95	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.36027061
96	Fatty acid degradation_Homo sapiens_hsa00071	0.35286694
97	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.33221504
98	Ribosome_Homo sapiens_hsa03010	0.32488719
99	Cholinergic synapse_Homo sapiens_hsa04725	0.31969863
100	Sulfur relay system_Homo sapiens_hsa04122	0.30397795

C9ORF66

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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