ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.11208863
2	fucose catabolic process (GO:0019317)	4.42420985
3	L-fucose metabolic process (GO:0042354)	4.42420985
4	L-fucose catabolic process (GO:0042355)	4.42420985
5	response to pheromone (GO:0019236)	4.31926235
6	negative regulation of telomere maintenance (GO:0032205)	3.87298947
7	DNA deamination (GO:0045006)	3.83962724
8	indolalkylamine metabolic process (GO:0006586)	3.49481948
9	platelet dense granule organization (GO:0060155)	3.48364445
10	water-soluble vitamin biosynthetic process (GO:0042364)	3.43693781
11	cellular ketone body metabolic process (GO:0046950)	3.41913380
12	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.39942612
13	NADH dehydrogenase complex assembly (GO:0010257)	3.39942612
14	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.39942612
15	protein complex biogenesis (GO:0070271)	3.35068349
16	protein-cofactor linkage (GO:0018065)	3.34538080
17	tryptophan catabolic process (GO:0006569)	3.32331005
18	indole-containing compound catabolic process (GO:0042436)	3.32331005
19	indolalkylamine catabolic process (GO:0046218)	3.32331005
20	ketone body metabolic process (GO:1902224)	3.24535503
21	kynurenine metabolic process (GO:0070189)	3.22481772
22	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.22238260
23	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.19870430
24	epithelial cilium movement (GO:0003351)	3.18214986
25	neurofilament cytoskeleton organization (GO:0060052)	3.17953533
26	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.16646247
27	detection of light stimulus involved in sensory perception (GO:0050962)	3.12169092
28	detection of light stimulus involved in visual perception (GO:0050908)	3.12169092
29	protein K11-linked deubiquitination (GO:0035871)	3.12039920
30	neural tube formation (GO:0001841)	3.09474128
31	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.08946268
32	pyrimidine nucleobase catabolic process (GO:0006208)	3.07703310
33	rhodopsin mediated signaling pathway (GO:0016056)	3.06225373
34	mitochondrial respiratory chain complex assembly (GO:0033108)	3.05493671
35	preassembly of GPI anchor in ER membrane (GO:0016254)	3.04123396
36	ATP synthesis coupled proton transport (GO:0015986)	3.00655274
37	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.00655274
38	replication fork processing (GO:0031297)	2.99167464
39	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.98609228
40	tryptophan metabolic process (GO:0006568)	2.94649676
41	piRNA metabolic process (GO:0034587)	2.93810653
42	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.90469321
43	regulation of translation, ncRNA-mediated (GO:0045974)	2.90469321
44	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.90469321
45	regulation of glucokinase activity (GO:0033131)	2.89124265
46	regulation of hexokinase activity (GO:1903299)	2.89124265
47	exogenous drug catabolic process (GO:0042738)	2.86910300
48	nucleobase catabolic process (GO:0046113)	2.85046723
49	respiratory chain complex IV assembly (GO:0008535)	2.81657108
50	glycerophospholipid catabolic process (GO:0046475)	2.81330139
51	male meiosis (GO:0007140)	2.79884168
52	axoneme assembly (GO:0035082)	2.78360612
53	protein localization to cilium (GO:0061512)	2.74872271
54	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.74228225
55	neuronal action potential (GO:0019228)	2.72310373
56	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.70184132
57	dopamine transport (GO:0015872)	2.69196779
58	nephron epithelium morphogenesis (GO:0072088)	2.68560697
59	nephron tubule morphogenesis (GO:0072078)	2.68560697
60	kidney morphogenesis (GO:0060993)	2.68233684
61	cytochrome complex assembly (GO:0017004)	2.67187553
62	reciprocal meiotic recombination (GO:0007131)	2.66933992
63	reciprocal DNA recombination (GO:0035825)	2.66933992
64	mannosylation (GO:0097502)	2.66574856
65	negative regulation of mast cell activation (GO:0033004)	2.66546935
66	regulation of telomere maintenance (GO:0032204)	2.65912175
67	indole-containing compound metabolic process (GO:0042430)	2.65745822
68	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.64629085
69	chaperone-mediated protein transport (GO:0072321)	2.64469786
70	gamma-aminobutyric acid transport (GO:0015812)	2.62898045
71	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.62837566
72	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.62837566
73	cornea development in camera-type eye (GO:0061303)	2.62826208
74	cilium movement (GO:0003341)	2.61704177
75	drug catabolic process (GO:0042737)	2.60801323
76	nonmotile primary cilium assembly (GO:0035058)	2.59755141
77	positive regulation of meiosis (GO:0045836)	2.57329902
78	cAMP catabolic process (GO:0006198)	2.56306645
79	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.55803296
80	DNA double-strand break processing (GO:0000729)	2.54339486
81	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.54027066
82	cilium morphogenesis (GO:0060271)	2.52803231
83	behavioral response to ethanol (GO:0048149)	2.51610327
84	resolution of meiotic recombination intermediates (GO:0000712)	2.50262527
85	RNA destabilization (GO:0050779)	2.49327754
86	adaptation of signaling pathway (GO:0023058)	2.47468045
87	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.46913211
88	protein polyglutamylation (GO:0018095)	2.46430761
89	retinal cone cell development (GO:0046549)	2.45317738
90	recombinational repair (GO:0000725)	2.43994663
91	DNA methylation involved in gamete generation (GO:0043046)	2.43421951
92	fucosylation (GO:0036065)	2.43064434
93	rRNA catabolic process (GO:0016075)	2.42531722
94	double-strand break repair via homologous recombination (GO:0000724)	2.42398784
95	photoreceptor cell development (GO:0042461)	2.41621254
96	centriole replication (GO:0007099)	2.41239935
97	multicellular organism reproduction (GO:0032504)	2.41181641
98	cilium organization (GO:0044782)	2.40190435
99	male meiosis I (GO:0007141)	2.39341955
100	positive regulation of meiotic cell cycle (GO:0051446)	2.39169523

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.08565896
2	VDR_22108803_ChIP-Seq_LS180_Human	3.13663989
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.85189395
4	EZH2_22144423_ChIP-Seq_EOC_Human	2.84987679
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.70619729
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.54944480
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.50216840
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.35363145
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.31061698
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.23607312
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.22074333
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.20102980
13	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.08931117
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.07000678
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.04705673
16	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.04360515
17	EWS_26573619_Chip-Seq_HEK293_Human	2.02411791
18	P300_19829295_ChIP-Seq_ESCs_Human	1.94775881
19	IRF1_19129219_ChIP-ChIP_H3396_Human	1.93637099
20	FUS_26573619_Chip-Seq_HEK293_Human	1.89121688
21	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.87589480
22	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.76329151
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.76026810
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.65922176
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.65878616
26	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.64434369
27	BCAT_22108803_ChIP-Seq_LS180_Human	1.62986308
28	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.59413843
29	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.58118716
30	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.56406792
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.56144232
32	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.52022943
33	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.51722130
34	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.49448499
35	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.46522215
36	CBP_20019798_ChIP-Seq_JUKART_Human	1.45810765
37	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.45810765
38	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.45290285
39	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.44289999
40	AR_25329375_ChIP-Seq_VCAP_Human	1.44037074
41	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.43341026
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.41751759
43	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.41506874
44	MYC_18940864_ChIP-ChIP_HL60_Human	1.40882585
45	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.40217686
46	SMAD4_21799915_ChIP-Seq_A2780_Human	1.39132292
47	STAT3_23295773_ChIP-Seq_U87_Human	1.38467255
48	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.36819219
49	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.36120106
50	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.33702028
51	REST_21632747_ChIP-Seq_MESCs_Mouse	1.33444034
52	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.33376011
53	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.33376011
54	TCF4_23295773_ChIP-Seq_U87_Human	1.32971193
55	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32845559
56	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.30869104
57	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30199898
58	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30199898
59	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.30196365
60	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.28070704
61	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.27928983
62	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27203629
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.26612405
64	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.25524164
65	TCF4_22108803_ChIP-Seq_LS180_Human	1.25308275
66	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.25251988
67	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.23987761
68	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.23987761
69	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.23160468
70	NCOR_22424771_ChIP-Seq_293T_Human	1.23145354
71	RNF2_27304074_Chip-Seq_NSC_Mouse	1.22238498
72	AR_20517297_ChIP-Seq_VCAP_Human	1.17720331
73	ELK1_19687146_ChIP-ChIP_HELA_Human	1.16403976
74	RUNX2_22187159_ChIP-Seq_PCA_Human	1.16401213
75	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.15769403
76	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.15335201
77	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.15141459
78	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.15093179
79	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12747940
80	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.12151806
81	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.11999247
82	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.11293486
83	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11057866
84	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.09941832
85	AR_21572438_ChIP-Seq_LNCaP_Human	1.09290320
86	P53_22387025_ChIP-Seq_ESCs_Mouse	1.09128507
87	* GATA3_21878914_ChIP-Seq_MCF-7_Human	1.08889049
88	HOXB7_26014856_ChIP-Seq_BT474_Human	1.07401144
89	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07281875
90	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.07010584
91	VDR_23849224_ChIP-Seq_CD4+_Human	1.05581837
92	* AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.04763053
93	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04435360
94	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.02777040
95	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.02340571
96	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.01968667
97	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.00349922
98	POU5F1_16153702_ChIP-ChIP_HESCs_Human	0.99948111
99	NANOG_20526341_ChIP-Seq_ESCs_Human	0.99929086
100	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.99866438

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.91740440
2	MP0002102_abnormal_ear_morphology	2.74010236
3	MP0003195_calcinosis	2.65548428
4	MP0005551_abnormal_eye_electrophysiolog	2.33657814
5	MP0000372_irregular_coat_pigmentation	2.28195683
6	MP0002837_dystrophic_cardiac_calcinosis	2.23235463
7	MP0000569_abnormal_digit_pigmentation	2.22934658
8	MP0006292_abnormal_olfactory_placode	2.13827314
9	MP0005084_abnormal_gallbladder_morpholo	2.11673249
10	MP0002163_abnormal_gland_morphology	2.11504170
11	MP0008872_abnormal_physiological_respon	2.04962360
12	MP0004885_abnormal_endolymph	2.00869504
13	MP0002876_abnormal_thyroid_physiology	1.99188289
14	MP0003646_muscle_fatigue	1.96048917
15	MP0008995_early_reproductive_senescence	1.94375819
16	MP0001968_abnormal_touch/_nociception	1.87959750
17	MP0005645_abnormal_hypothalamus_physiol	1.84782334
18	MP0008875_abnormal_xenobiotic_pharmacok	1.84371351
19	MP0006072_abnormal_retinal_apoptosis	1.81277394
20	MP0003880_abnormal_central_pattern	1.80613655
21	MP0003136_yellow_coat_color	1.80540412
22	MP0004043_abnormal_pH_regulation	1.80119857
23	MP0002938_white_spotting	1.77089006
24	MP0004133_heterotaxia	1.74248034
25	MP0009745_abnormal_behavioral_response	1.73264155
26	MP0004142_abnormal_muscle_tone	1.70442121
27	MP0002653_abnormal_ependyma_morphology	1.69183236
28	MP0005253_abnormal_eye_physiology	1.67583507
29	MP0006276_abnormal_autonomic_nervous	1.66755475
30	MP0003787_abnormal_imprinting	1.65846482
31	MP0005075_abnormal_melanosome_morpholog	1.65778688
32	MP0002736_abnormal_nociception_after	1.63435155
33	MP0001986_abnormal_taste_sensitivity	1.59140592
34	MP0005174_abnormal_tail_pigmentation	1.58507029
35	MP0005379_endocrine/exocrine_gland_phen	1.57214074
36	MP0001501_abnormal_sleep_pattern	1.56910895
37	MP0003011_delayed_dark_adaptation	1.55848859
38	MP0009046_muscle_twitch	1.54753726
39	MP0002272_abnormal_nervous_system	1.51862534
40	MP0005646_abnormal_pituitary_gland	1.49776843
41	MP0004742_abnormal_vestibular_system	1.48993628
42	MP0000631_abnormal_neuroendocrine_gland	1.46358657
43	MP0001529_abnormal_vocalization	1.46075231
44	MP0002928_abnormal_bile_duct	1.41450800
45	MP0002557_abnormal_social/conspecific_i	1.36596122
46	MP0002638_abnormal_pupillary_reflex	1.34888025
47	MP0002735_abnormal_chemical_nociception	1.32944057
48	MP0002138_abnormal_hepatobiliary_system	1.28659984
49	MP0001919_abnormal_reproductive_system	1.23702394
50	MP0002064_seizures	1.23420190
51	MP0001486_abnormal_startle_reflex	1.23042482
52	MP0002572_abnormal_emotion/affect_behav	1.21525313
53	MP0005389_reproductive_system_phenotype	1.12802513
54	MP0001485_abnormal_pinna_reflex	1.12432166
55	MP0002277_abnormal_respiratory_mucosa	1.11997191
56	MP0004145_abnormal_muscle_electrophysio	1.10799970
57	MP0001970_abnormal_pain_threshold	1.09054956
58	MP0003283_abnormal_digestive_organ	1.08549144
59	MP0002095_abnormal_skin_pigmentation	1.08145321
60	MP0008058_abnormal_DNA_repair	1.08028410
61	MP0002733_abnormal_thermal_nociception	1.06670905
62	MP0002067_abnormal_sensory_capabilities	1.05759081
63	MP0005195_abnormal_posterior_eye	1.05354836
64	MP0003252_abnormal_bile_duct	1.05220438
65	MP0000427_abnormal_hair_cycle	1.05150211
66	MP0005085_abnormal_gallbladder_physiolo	1.01023142
67	MP0001905_abnormal_dopamine_level	1.00838096
68	MP0002160_abnormal_reproductive_system	0.99827660
69	MP0003806_abnormal_nucleotide_metabolis	0.98624604
70	MP0001984_abnormal_olfaction	0.98547139
71	MP0003718_maternal_effect	0.97854671
72	MP0001324_abnormal_eye_pigmentation	0.96494511
73	MP0003635_abnormal_synaptic_transmissio	0.95694056
74	MP0000015_abnormal_ear_pigmentation	0.93867559
75	MP0002234_abnormal_pharynx_morphology	0.92991630
76	MP0004924_abnormal_behavior	0.92651421
77	MP0005386_behavior/neurological_phenoty	0.92651421
78	MP0002254_reproductive_system_inflammat	0.91246303
79	MP0003698_abnormal_male_reproductive	0.90233486
80	MP0002752_abnormal_somatic_nervous	0.90141743
81	MP0002822_catalepsy	0.90001277
82	MP0002063_abnormal_learning/memory/cond	0.88850537
83	MP0001764_abnormal_homeostasis	0.88604153
84	MP0005167_abnormal_blood-brain_barrier	0.87589020
85	MP0002693_abnormal_pancreas_physiology	0.85871864
86	MP0005365_abnormal_bile_salt	0.83935437
87	MP0003786_premature_aging	0.83609530
88	MP0000026_abnormal_inner_ear	0.83355636
89	MP0002184_abnormal_innervation	0.81781954
90	MP0003878_abnormal_ear_physiology	0.81120934
91	MP0005377_hearing/vestibular/ear_phenot	0.81120934
92	MP0010386_abnormal_urinary_bladder	0.80969010
93	MP0003121_genomic_imprinting	0.80562037
94	MP0002210_abnormal_sex_determination	0.80468094
95	MP0002751_abnormal_autonomic_nervous	0.80194120
96	MP0005671_abnormal_response_to	0.78860134
97	MP0002734_abnormal_mechanical_nocicepti	0.77212487
98	MP0001929_abnormal_gametogenesis	0.75682981
99	MP0005332_abnormal_amino_acid	0.73982071
100	MP0010329_abnormal_lipoprotein_level	0.73740697

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.10352282
2	Congenital stationary night blindness (HP:0007642)	4.03380626
3	Molar tooth sign on MRI (HP:0002419)	3.80975362
4	Abnormality of midbrain morphology (HP:0002418)	3.80975362
5	Pancreatic fibrosis (HP:0100732)	3.78744205
6	Type II lissencephaly (HP:0007260)	3.62423112
7	True hermaphroditism (HP:0010459)	3.57458941
8	Nephronophthisis (HP:0000090)	3.43506321
9	Abnormality of the renal cortex (HP:0011035)	3.26216177
10	Abnormality of the renal medulla (HP:0100957)	2.98685707
11	Tubular atrophy (HP:0000092)	2.90033095
12	Abnormal drinking behavior (HP:0030082)	2.85255930
13	Polydipsia (HP:0001959)	2.85255930
14	Cerebellar dysplasia (HP:0007033)	2.72905717
15	Medial flaring of the eyebrow (HP:0010747)	2.71386470
16	Abolished electroretinogram (ERG) (HP:0000550)	2.69364691
17	Lissencephaly (HP:0001339)	2.63108371
18	Abnormal rod and cone electroretinograms (HP:0008323)	2.60309347
19	Inability to walk (HP:0002540)	2.53491976
20	Attenuation of retinal blood vessels (HP:0007843)	2.52814220
21	Lipid accumulation in hepatocytes (HP:0006561)	2.52788866
22	Mitochondrial inheritance (HP:0001427)	2.52728090
23	Decreased central vision (HP:0007663)	2.42842297
24	Increased hepatocellular lipid droplets (HP:0006565)	2.42796990
25	Cystic liver disease (HP:0006706)	2.42426218
26	Chronic hepatic failure (HP:0100626)	2.42183394
27	Acute necrotizing encephalopathy (HP:0006965)	2.40929670
28	Increased CSF lactate (HP:0002490)	2.38420779
29	Renal cortical cysts (HP:0000803)	2.37676663
30	Hypothermia (HP:0002045)	2.37256033
31	Polyuria (HP:0000103)	2.35498776
32	Hypoplasia of the fovea (HP:0007750)	2.35325276
33	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.35325276
34	Pendular nystagmus (HP:0012043)	2.32879392
35	Hyperventilation (HP:0002883)	2.26142350
36	3-Methylglutaconic aciduria (HP:0003535)	2.24344144
37	Progressive inability to walk (HP:0002505)	2.24211769
38	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.23164356
39	Sclerocornea (HP:0000647)	2.20156290
40	Duplicated collecting system (HP:0000081)	2.19587876
41	Abnormality of the renal collecting system (HP:0004742)	2.19110664
42	Increased corneal curvature (HP:0100692)	2.18220014
43	Keratoconus (HP:0000563)	2.18220014
44	Pachygyria (HP:0001302)	2.17027672
45	Methylmalonic acidemia (HP:0002912)	2.15199219
46	Abnormality of the pons (HP:0007361)	2.11114565
47	Progressive macrocephaly (HP:0004481)	2.10518109
48	Acute encephalopathy (HP:0006846)	2.10155384
49	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.10088318
50	Hypoplasia of the pons (HP:0012110)	2.09564127
51	Methylmalonic aciduria (HP:0012120)	2.08150559
52	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.06094830
53	Abnormality of the fovea (HP:0000493)	2.05966431
54	Congenital, generalized hypertrichosis (HP:0004540)	2.03652017
55	Gait imbalance (HP:0002141)	2.03568737
56	Retinal dysplasia (HP:0007973)	2.03348193
57	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.03016076
58	Abnormal mitochondria in muscle tissue (HP:0008316)	2.02655868
59	Stomatitis (HP:0010280)	2.01950770
60	Concave nail (HP:0001598)	2.00766476
61	Congenital hepatic fibrosis (HP:0002612)	2.00066297
62	Progressive cerebellar ataxia (HP:0002073)	1.99643460
63	Optic nerve hypoplasia (HP:0000609)	1.99236879
64	Nephrogenic diabetes insipidus (HP:0009806)	1.99028631
65	Anencephaly (HP:0002323)	1.98871488
66	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.97741790
67	Optic disc pallor (HP:0000543)	1.95806543
68	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.94733096
69	Severe muscular hypotonia (HP:0006829)	1.94127200
70	Focal motor seizures (HP:0011153)	1.92828108
71	Hepatocellular necrosis (HP:0001404)	1.91985794
72	Abnormality of DNA repair (HP:0003254)	1.91914265
73	Stomach cancer (HP:0012126)	1.91749100
74	Renal Fanconi syndrome (HP:0001994)	1.91658613
75	Congenital primary aphakia (HP:0007707)	1.90648921
76	Postaxial foot polydactyly (HP:0001830)	1.89386874
77	Hepatic necrosis (HP:0002605)	1.88691348
78	Gaze-evoked nystagmus (HP:0000640)	1.87946054
79	Ketosis (HP:0001946)	1.87752269
80	Ketoacidosis (HP:0001993)	1.87675535
81	Male pseudohermaphroditism (HP:0000037)	1.86041726
82	Oligodactyly (hands) (HP:0001180)	1.85525342
83	Absent thumb (HP:0009777)	1.84844838
84	Absent/shortened dynein arms (HP:0200106)	1.84142404
85	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.84142404
86	Meckel diverticulum (HP:0002245)	1.84101588
87	Bilateral microphthalmos (HP:0007633)	1.83595401
88	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.83236228
89	Abnormal urine output (HP:0012590)	1.82992641
90	Febrile seizures (HP:0002373)	1.82259710
91	Hypomagnesemia (HP:0002917)	1.82161631
92	Large for gestational age (HP:0001520)	1.81894775
93	Abnormality of the ileum (HP:0001549)	1.81277557
94	Furrowed tongue (HP:0000221)	1.79503474
95	Decreased circulating renin level (HP:0003351)	1.77781420
96	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.77402287
97	Abnormal biliary tract physiology (HP:0012439)	1.76324935
98	Bile duct proliferation (HP:0001408)	1.76324935
99	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.74089965
100	Hyperalaninemia (HP:0003348)	1.74089965

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAOK3	4.89968859
2	FRK	3.99140195
3	TXK	3.17497828
4	ADRBK2	3.05384983
5	WNK3	2.79276670
6	BMPR1B	2.46872893
7	GRK1	2.35849793
8	MAP4K2	2.33219586
9	ZAK	2.32234435
10	TLK1	2.31652602
11	PINK1	2.26685509
12	NUAK1	2.20141377
13	WNK4	2.08178716
14	CASK	2.05323871
15	INSRR	2.00886187
16	MAPK13	2.00287072
17	BCKDK	1.99249340
18	TNIK	1.92230906
19	ACVR1B	1.89161196
20	MAP4K1	1.63643635
21	STK39	1.50860326
22	MAP3K4	1.47409705
23	MARK1	1.45807719
24	OXSR1	1.34272955
25	TRIM28	1.27524121
26	DAPK2	1.25889227
27	DYRK2	1.25582734
28	TIE1	1.22804519
29	CAMKK2	1.17174393
30	MKNK2	1.14394267
31	PAK3	1.10639678
32	VRK1	1.06966943
33	ADRBK1	1.01060753
34	PRKCG	1.00900405
35	CSNK1G1	0.94610368
36	PNCK	0.93327349
37	TAF1	0.88880173
38	PRKCE	0.87718951
39	PHKG1	0.87201674
40	PHKG2	0.87201674
41	MAP2K7	0.85787219
42	NLK	0.80627931
43	PRKCQ	0.80610287
44	MAPK15	0.76668365
45	TEC	0.75478240
46	MUSK	0.70694610
47	NME1	0.69655615
48	CSNK1G3	0.67795159
49	CSNK1G2	0.67762210
50	IKBKB	0.64954124
51	TGFBR1	0.64522117
52	VRK2	0.64089891
53	ERBB3	0.62620376
54	SYK	0.62448877
55	STK11	0.62199257
56	CAMK1	0.60704894
57	PRKCI	0.60430477
58	IKBKE	0.60169258
59	NEK2	0.59886105
60	PLK2	0.59526676
61	NTRK2	0.58776028
62	NTRK3	0.58456578
63	EPHA4	0.57857236
64	PTK2B	0.54645270
65	IRAK1	0.54342028
66	PASK	0.53006929
67	BCR	0.51700885
68	PLK3	0.51276824
69	MAP2K6	0.51116732
70	PKN1	0.49890613
71	CSNK1A1	0.46440793
72	ATR	0.46016009
73	ITK	0.45501806
74	PLK4	0.45164743
75	CAMK2A	0.43108891
76	PRKACA	0.43007072
77	BRSK2	0.42753512
78	MST4	0.41940163
79	DYRK1A	0.41510771
80	STK3	0.40955585
81	GRK7	0.40825760
82	TNK2	0.40562861
83	CSNK1A1L	0.40050091
84	KIT	0.38565062
85	WEE1	0.38333642
86	PRKCH	0.36676594
87	PRKCZ	0.36662822
88	PIK3CA	0.36660653
89	MAPKAPK5	0.36400706
90	PRKCA	0.36274047
91	MAP3K12	0.36023250
92	MARK3	0.33603659
93	CHEK2	0.33466360
94	RPS6KA5	0.33172914
95	FGFR2	0.32296002
96	STK16	0.32088218
97	CHUK	0.31196711
98	CSNK1D	0.31113541
99	PRKG1	0.30330556
100	MKNK1	0.29932841

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.96338202
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.87922700
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.63069884
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.53173405
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.49597198
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.44994990
7	Butanoate metabolism_Homo sapiens_hsa00650	2.30892299
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.24702812
9	Parkinsons disease_Homo sapiens_hsa05012	2.17918482
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.07142761
11	Protein export_Homo sapiens_hsa03060	2.06353087
12	Homologous recombination_Homo sapiens_hsa03440	2.03043278
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.99978715
14	Nitrogen metabolism_Homo sapiens_hsa00910	1.95990510
15	Selenocompound metabolism_Homo sapiens_hsa00450	1.88790496
16	Ether lipid metabolism_Homo sapiens_hsa00565	1.88289766
17	Caffeine metabolism_Homo sapiens_hsa00232	1.86031138
18	Fanconi anemia pathway_Homo sapiens_hsa03460	1.84278305
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.77773362
20	RNA polymerase_Homo sapiens_hsa03020	1.74588354
21	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.74082340
22	Nicotine addiction_Homo sapiens_hsa05033	1.71457149
23	Basal transcription factors_Homo sapiens_hsa03022	1.70511151
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.63586095
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.60546419
26	Olfactory transduction_Homo sapiens_hsa04740	1.55341540
27	Propanoate metabolism_Homo sapiens_hsa00640	1.49432507
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.43148399
29	Huntingtons disease_Homo sapiens_hsa05016	1.39205096
30	Alzheimers disease_Homo sapiens_hsa05010	1.39136746
31	RNA degradation_Homo sapiens_hsa03018	1.28646781
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.25733425
33	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.24993684
34	Morphine addiction_Homo sapiens_hsa05032	1.23390667
35	Cardiac muscle contraction_Homo sapiens_hsa04260	1.20659241
36	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.18607419
37	Taste transduction_Homo sapiens_hsa04742	1.18416444
38	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.08193666
39	Collecting duct acid secretion_Homo sapiens_hsa04966	1.07075738
40	Insulin secretion_Homo sapiens_hsa04911	1.02763142
41	Primary immunodeficiency_Homo sapiens_hsa05340	1.02605999
42	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00457975
43	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00074436
44	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.98664844
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.98435427
46	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.96957203
47	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.94359217
48	Peroxisome_Homo sapiens_hsa04146	0.94053845
49	Regulation of autophagy_Homo sapiens_hsa04140	0.93982669
50	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.93321488
51	Serotonergic synapse_Homo sapiens_hsa04726	0.90743919
52	Glutamatergic synapse_Homo sapiens_hsa04724	0.90295317
53	Circadian entrainment_Homo sapiens_hsa04713	0.90041807
54	GABAergic synapse_Homo sapiens_hsa04727	0.89811059
55	One carbon pool by folate_Homo sapiens_hsa00670	0.88568264
56	Purine metabolism_Homo sapiens_hsa00230	0.82081712
57	beta-Alanine metabolism_Homo sapiens_hsa00410	0.81770610
58	Salivary secretion_Homo sapiens_hsa04970	0.80807821
59	Retinol metabolism_Homo sapiens_hsa00830	0.80168686
60	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.76932505
61	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.75961879
62	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.75613635
63	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.73356011
64	Proteasome_Homo sapiens_hsa03050	0.71982873
65	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.71884459
66	Ribosome_Homo sapiens_hsa03010	0.69330992
67	ABC transporters_Homo sapiens_hsa02010	0.68095518
68	Histidine metabolism_Homo sapiens_hsa00340	0.65696797
69	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.64885080
70	Metabolic pathways_Homo sapiens_hsa01100	0.64547479
71	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.64234651
72	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.63650334
73	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.62140413
74	Pyrimidine metabolism_Homo sapiens_hsa00240	0.59523987
75	Fat digestion and absorption_Homo sapiens_hsa04975	0.58047925
76	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.56941775
77	Sulfur relay system_Homo sapiens_hsa04122	0.53214128
78	Calcium signaling pathway_Homo sapiens_hsa04020	0.52727219
79	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.51244454
80	Asthma_Homo sapiens_hsa05310	0.50147225
81	Dopaminergic synapse_Homo sapiens_hsa04728	0.49924252
82	Type I diabetes mellitus_Homo sapiens_hsa04940	0.49367715
83	Glycerolipid metabolism_Homo sapiens_hsa00561	0.48322487
84	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.48302334
85	Long-term depression_Homo sapiens_hsa04730	0.43826244
86	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.43183875
87	Cocaine addiction_Homo sapiens_hsa05030	0.43096941
88	Amphetamine addiction_Homo sapiens_hsa05031	0.42150479
89	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.41313254
90	Mineral absorption_Homo sapiens_hsa04978	0.40478688
91	Circadian rhythm_Homo sapiens_hsa04710	0.39460480
92	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.39237727
93	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.38642265
94	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.38308504
95	Sulfur metabolism_Homo sapiens_hsa00920	0.38225732
96	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.37295016
97	Fatty acid elongation_Homo sapiens_hsa00062	0.34128710
98	Steroid biosynthesis_Homo sapiens_hsa00100	0.33990575
99	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.32266601
100	Nucleotide excision repair_Homo sapiens_hsa03420	0.29049723

MDS2

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

Tissue Expression Export image »

Cell Line Expression Export image »