ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	adaptation of signaling pathway (GO:0023058)	6.20489149
2	negative regulation of cAMP-mediated signaling (GO:0043951)	4.95564967
3	negative regulation of systemic arterial blood pressure (GO:0003085)	4.62259271
4	piRNA metabolic process (GO:0034587)	4.51489098
5	negative regulation of cytosolic calcium ion concentration (GO:0051481)	4.39078299
6	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	4.29504501
7	genitalia morphogenesis (GO:0035112)	4.27249277
8	negative regulation of protein localization to cell surface (GO:2000009)	4.22242061
9	negative regulation of sodium ion transport (GO:0010766)	4.20351832
10	protein K11-linked deubiquitination (GO:0035871)	4.19027533
11	behavioral response to ethanol (GO:0048149)	4.16523681
12	synapsis (GO:0007129)	4.07471184
13	carnitine transmembrane transport (GO:1902603)	3.80490162
14	cellular ketone body metabolic process (GO:0046950)	3.65939500
15	heparin metabolic process (GO:0030202)	3.62895749
16	heparin biosynthetic process (GO:0030210)	3.62895749
17	regulation of memory T cell differentiation (GO:0043380)	3.53648491
18	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.51429251
19	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.51429251
20	regulation of translation, ncRNA-mediated (GO:0045974)	3.51429251
21	DNA methylation involved in gamete generation (GO:0043046)	3.47696945
22	amino-acid betaine transport (GO:0015838)	3.44019658
23	carnitine transport (GO:0015879)	3.44019658
24	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.42720560
25	sequestering of extracellular ligand from receptor (GO:0035581)	3.40628146
26	male meiosis (GO:0007140)	3.38129313
27	retinal cone cell development (GO:0046549)	3.36539238
28	regulation of acrosome reaction (GO:0060046)	3.36357863
29	positive regulation of digestive system process (GO:0060456)	3.34705867
30	regulation of hippo signaling (GO:0035330)	3.32938339
31	monoubiquitinated protein deubiquitination (GO:0035520)	3.31746672
32	indole-containing compound catabolic process (GO:0042436)	3.29755127
33	indolalkylamine catabolic process (GO:0046218)	3.29755127
34	tryptophan catabolic process (GO:0006569)	3.29755127
35	mating behavior (GO:0007617)	3.28523827
36	chromosome organization involved in meiosis (GO:0070192)	3.28225952
37	glycerophospholipid catabolic process (GO:0046475)	3.27643972
38	regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)	3.26349885
39	male meiosis I (GO:0007141)	3.26227056
40	organic cation transport (GO:0015695)	3.25272196
41	righting reflex (GO:0060013)	3.18223658
42	ketone body metabolic process (GO:1902224)	3.18013434
43	establishment of protein localization to Golgi (GO:0072600)	3.16319112
44	proline transport (GO:0015824)	3.12401977
45	spermatid development (GO:0007286)	3.10701620
46	protein import into peroxisome matrix (GO:0016558)	3.10298904
47	quaternary ammonium group transport (GO:0015697)	3.07284468
48	cellular biogenic amine catabolic process (GO:0042402)	3.06960760
49	amine catabolic process (GO:0009310)	3.06960760
50	thyroid hormone metabolic process (GO:0042403)	2.99082151
51	positive regulation of cAMP-mediated signaling (GO:0043950)	2.99053443
52	detection of chemical stimulus involved in sensory perception (GO:0050907)	2.97550708
53	positive regulation of neurological system process (GO:0031646)	2.95340521
54	interkinetic nuclear migration (GO:0022027)	2.93273219
55	retinal metabolic process (GO:0042574)	2.92330673
56	coenzyme catabolic process (GO:0009109)	2.91908189
57	reflex (GO:0060004)	2.91775287
58	histone H3-K9 methylation (GO:0051567)	2.91438606
59	axoneme assembly (GO:0035082)	2.87677662
60	reciprocal DNA recombination (GO:0035825)	2.87585412
61	reciprocal meiotic recombination (GO:0007131)	2.87585412
62	histone H3-K9 demethylation (GO:0033169)	2.87518023
63	regulation of endocrine process (GO:0044060)	2.87173835
64	sulfation (GO:0051923)	2.85917589
65	positive regulation of glycolytic process (GO:0045821)	2.84398290
66	replication fork processing (GO:0031297)	2.83793741
67	multicellular organism reproduction (GO:0032504)	2.79669964
68	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.74318283
69	prenylation (GO:0097354)	2.73416898
70	protein prenylation (GO:0018342)	2.73416898
71	cilium or flagellum-dependent cell motility (GO:0001539)	2.72932525
72	indolalkylamine metabolic process (GO:0006586)	2.72746450
73	negative regulation of smooth muscle cell differentiation (GO:0051151)	2.71394285
74	synaptonemal complex assembly (GO:0007130)	2.70973463
75	photoreceptor cell maintenance (GO:0045494)	2.70648535
76	linoleic acid metabolic process (GO:0043651)	2.70557466
77	positive regulation of cGMP biosynthetic process (GO:0030828)	2.70221857
78	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	2.69846708
79	synaptonemal complex organization (GO:0070193)	2.69100361
80	regulation of axon regeneration (GO:0048679)	2.67866772
81	regulation of neuron projection regeneration (GO:0070570)	2.67866772
82	seminiferous tubule development (GO:0072520)	2.66820928
83	nonmotile primary cilium assembly (GO:0035058)	2.66633137
84	pre-miRNA processing (GO:0031054)	2.65599864
85	gene silencing by RNA (GO:0031047)	2.65262934
86	sperm motility (GO:0030317)	2.63237702
87	ovulation from ovarian follicle (GO:0001542)	2.61030375
88	regulation of cAMP-mediated signaling (GO:0043949)	2.60845852
89	kynurenine metabolic process (GO:0070189)	2.58677648
90	regulation of fatty acid oxidation (GO:0046320)	2.57542256
91	toxin transport (GO:1901998)	2.54849858
92	epithelial cilium movement (GO:0003351)	2.54276690
93	iron ion import (GO:0097286)	2.49284618
94	regulation of cGMP biosynthetic process (GO:0030826)	2.48862271
95	long-chain fatty acid biosynthetic process (GO:0042759)	2.47995162
96	DNA synthesis involved in DNA repair (GO:0000731)	2.47833812
97	signal peptide processing (GO:0006465)	2.47739558
98	protein targeting to Golgi (GO:0000042)	2.44474641
99	protein K48-linked deubiquitination (GO:0071108)	2.44404038
100	cornea development in camera-type eye (GO:0061303)	2.43893038

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.93650758
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.47143215
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.09218899
4	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.03548581
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.93023780
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.78837334
7	VDR_22108803_ChIP-Seq_LS180_Human	2.73965679
8	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.62418131
9	PIAS1_25552417_ChIP-Seq_VCAP_Human	2.54711320
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.47996746
11	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.43815716
12	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.39620772
13	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.23536307
14	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.15672642
15	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.12080658
16	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.07246944
17	CBP_20019798_ChIP-Seq_JUKART_Human	1.93339855
18	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.93339855
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.92717293
20	AR_21572438_ChIP-Seq_LNCaP_Human	1.90272930
21	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.87151910
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.84268499
23	P300_19829295_ChIP-Seq_ESCs_Human	1.79974669
24	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.77907221
25	TCF4_23295773_ChIP-Seq_U87_Human	1.76099965
26	IGF1R_20145208_ChIP-Seq_DFB_Human	1.75800737
27	SMAD4_21799915_ChIP-Seq_A2780_Human	1.75149541
28	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67296720
29	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.64747292
30	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.64747292
31	STAT3_23295773_ChIP-Seq_U87_Human	1.63253156
32	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.60807449
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.59301297
34	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.58468174
35	AR_25329375_ChIP-Seq_VCAP_Human	1.58134368
36	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.56509907
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.56280752
38	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.55912831
39	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.52585090
40	AHR_22903824_ChIP-Seq_MCF-7_Human	1.47824216
41	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.45475063
42	TBL1_22424771_ChIP-Seq_293T_Human	1.45399875
43	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.44569925
44	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.38455664
45	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.38158864
46	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.36355776
47	RUNX2_22187159_ChIP-Seq_PCA_Human	1.35765357
48	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.35185054
49	EWS_26573619_Chip-Seq_HEK293_Human	1.34164757
50	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.33878732
51	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.31943020
52	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.31796504
53	FUS_26573619_Chip-Seq_HEK293_Human	1.27948706
54	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.25998528
55	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.25740312
56	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.25491363
57	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.23839723
58	DROSHA_22980978_ChIP-Seq_HELA_Human	1.20732452
59	TP53_16413492_ChIP-PET_HCT116_Human	1.20604526
60	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.19879174
61	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.19212929
62	NFYB_21822215_ChIP-Seq_K562_Human	1.18779328
63	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.17572314
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.17334465
65	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.16444457
66	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.15930051
67	CDX2_22108803_ChIP-Seq_LS180_Human	1.15068389
68	NFYA_21822215_ChIP-Seq_K562_Human	1.14744702
69	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.13713393
70	RXR_22108803_ChIP-Seq_LS180_Human	1.12503858
71	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.11968657
72	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.10894475
73	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.10660666
74	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.10648731
75	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.10024213
76	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.09632500
77	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.08536655
78	PHF8_20622853_ChIP-Seq_HELA_Human	1.08269740
79	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.07526002
80	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.06173901
81	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.05675531
82	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.05422154
83	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.04892155
84	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.04882525
85	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.04708545
86	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.04502531
87	TP53_22573176_ChIP-Seq_HFKS_Human	1.04083357
88	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.02558170
89	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.01505557
90	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.01281615
91	REST_21632747_ChIP-Seq_MESCs_Mouse	1.01164137
92	CBP_21632823_ChIP-Seq_H3396_Human	1.00967451
93	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00921621
94	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.00547798
95	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.99532411
96	AR_19668381_ChIP-Seq_PC3_Human	0.99382076
97	CJUN_26792858_Chip-Seq_BT549_Human	0.99344512
98	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.98501078
99	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.95511702
100	IRF1_19129219_ChIP-ChIP_H3396_Human	0.95272016

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.98365306
2	MP0008057_abnormal_DNA_replication	3.90901692
3	MP0001968_abnormal_touch/_nociception	3.40567903
4	MP0005167_abnormal_blood-brain_barrier	3.04428362
5	MP0003045_fibrosis	2.93245409
6	MP0005646_abnormal_pituitary_gland	2.88404056
7	MP0005310_abnormal_salivary_gland	2.85834255
8	MP0002736_abnormal_nociception_after	2.79207970
9	MP0002735_abnormal_chemical_nociception	2.64341883
10	MP0003011_delayed_dark_adaptation	2.55199296
11	MP0001501_abnormal_sleep_pattern	2.49482571
12	MP0005551_abnormal_eye_electrophysiolog	2.48861436
13	MP0004043_abnormal_pH_regulation	2.39419082
14	MP0000383_abnormal_hair_follicle	2.37008146
15	MP0009780_abnormal_chondrocyte_physiolo	2.12955534
16	MP0002876_abnormal_thyroid_physiology	2.07787034
17	MP0002254_reproductive_system_inflammat	2.01271325
18	MP0002160_abnormal_reproductive_system	1.98028246
19	MP0001502_abnormal_circadian_rhythm	1.76483419
20	MP0000230_abnormal_systemic_arterial	1.74800556
21	MP0002733_abnormal_thermal_nociception	1.70598470
22	MP0005647_abnormal_sex_gland	1.69632743
23	MP0003787_abnormal_imprinting	1.65552419
24	MP0001756_abnormal_urination	1.64796784
25	MP0010678_abnormal_skin_adnexa	1.64792729
26	MP0001486_abnormal_startle_reflex	1.62650392
27	MP0005389_reproductive_system_phenotype	1.61028630
28	MP0003136_yellow_coat_color	1.59175365
29	MP0000569_abnormal_digit_pigmentation	1.54777085
30	MP0001970_abnormal_pain_threshold	1.53621035
31	MP0002234_abnormal_pharynx_morphology	1.53212377
32	MP0005645_abnormal_hypothalamus_physiol	1.52500633
33	MP0002332_abnormal_exercise_endurance	1.52269210
34	MP0002168_other_aberrant_phenotype	1.46467539
35	MP0002909_abnormal_adrenal_gland	1.45454356
36	MP0005670_abnormal_white_adipose	1.43798211
37	MP0009046_muscle_twitch	1.43537239
38	MP0005253_abnormal_eye_physiology	1.41071280
39	MP0000631_abnormal_neuroendocrine_gland	1.35637024
40	MP0003195_calcinosis	1.34386203
41	MP0003698_abnormal_male_reproductive	1.33398082
42	MP0003646_muscle_fatigue	1.27923864
43	MP0002653_abnormal_ependyma_morphology	1.26099045
44	MP0000427_abnormal_hair_cycle	1.24261925
45	MP0001929_abnormal_gametogenesis	1.22569469
46	MP0001986_abnormal_taste_sensitivity	1.22046273
47	MP0002210_abnormal_sex_determination	1.21704664
48	MP0005410_abnormal_fertilization	1.20254096
49	MP0001664_abnormal_digestion	1.20138124
50	MP0005395_other_phenotype	1.19791716
51	MP0003718_maternal_effect	1.18194352
52	MP0000538_abnormal_urinary_bladder	1.17994070
53	MP0004858_abnormal_nervous_system	1.14544296
54	MP0002272_abnormal_nervous_system	1.13372500
55	MP0003633_abnormal_nervous_system	1.13050804
56	MP0009278_abnormal_bone_marrow	1.09445561
57	MP0004510_myositis	1.09239065
58	MP0002693_abnormal_pancreas_physiology	1.08235681
59	MP0006276_abnormal_autonomic_nervous	1.06811131
60	MP0006035_abnormal_mitochondrial_morpho	1.05290717
61	MP0002557_abnormal_social/conspecific_i	1.03353783
62	MP0005085_abnormal_gallbladder_physiolo	1.03001517
63	MP0002067_abnormal_sensory_capabilities	1.02923072
64	MP0002734_abnormal_mechanical_nocicepti	1.02738621
65	MP0001919_abnormal_reproductive_system	1.02536226
66	MP0009745_abnormal_behavioral_response	1.00963942
67	MP0002138_abnormal_hepatobiliary_system	1.00083204
68	MP0002837_dystrophic_cardiac_calcinosis	0.99707910
69	MP0001765_abnormal_ion_homeostasis	0.97396006
70	MP0002064_seizures	0.96999507
71	MP0005266_abnormal_metabolism	0.96929044
72	MP0003937_abnormal_limbs/digits/tail_de	0.94383301
73	MP0004085_abnormal_heartbeat	0.91654607
74	MP0001145_abnormal_male_reproductive	0.90729669
75	MP0004019_abnormal_vitamin_homeostasis	0.88409597
76	MP0008058_abnormal_DNA_repair	0.88208933
77	MP0004782_abnormal_surfactant_physiolog	0.88095179
78	MP0001984_abnormal_olfaction	0.87740021
79	MP0005408_hypopigmentation	0.87306365
80	MP0000653_abnormal_sex_gland	0.87068723
81	MP0003880_abnormal_central_pattern	0.85272799
82	MP0003936_abnormal_reproductive_system	0.83318694
83	MP0005360_urolithiasis	0.83086368
84	MP0005332_abnormal_amino_acid	0.81725299
85	MP0004270_analgesia	0.81689579
86	MP0001666_abnormal_nutrient_absorption	0.81245257
87	MP0001944_abnormal_pancreas_morphology	0.80052811
88	MP0008872_abnormal_physiological_respon	0.79851875
89	MP0003953_abnormal_hormone_level	0.77827406
90	MP0004885_abnormal_endolymph	0.74371962
91	MP0002229_neurodegeneration	0.72194489
92	MP0000358_abnormal_cell_content/	0.72034063
93	MP0001188_hyperpigmentation	0.70384527
94	MP0001485_abnormal_pinna_reflex	0.70349533
95	MP0004924_abnormal_behavior	0.69760950
96	MP0005386_behavior/neurological_phenoty	0.69760950
97	MP0002078_abnormal_glucose_homeostasis	0.68137658
98	MP0002572_abnormal_emotion/affect_behav	0.67900274
99	MP0003121_genomic_imprinting	0.67396293
100	MP0008875_abnormal_xenobiotic_pharmacok	0.66321507

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Gaze-evoked nystagmus (HP:0000640)	4.20919652
2	Pancreatic cysts (HP:0001737)	3.90500326
3	Abnormality of midbrain morphology (HP:0002418)	3.69480194
4	Molar tooth sign on MRI (HP:0002419)	3.69480194
5	True hermaphroditism (HP:0010459)	3.63661424
6	Hyperventilation (HP:0002883)	3.62697388
7	Pancreatic fibrosis (HP:0100732)	3.30188402
8	Abnormal biliary tract physiology (HP:0012439)	3.23746200
9	Bile duct proliferation (HP:0001408)	3.23746200
10	Broad-based gait (HP:0002136)	3.23652597
11	Optic nerve hypoplasia (HP:0000609)	3.20687584
12	Large for gestational age (HP:0001520)	3.17636310
13	Urethral obstruction (HP:0000796)	3.12833890
14	Volvulus (HP:0002580)	3.10724874
15	Hypoplastic nipples (HP:0002557)	3.08333431
16	Amelogenesis imperfecta (HP:0000705)	3.08148800
17	Nephronophthisis (HP:0000090)	3.08118627
18	Thyroid-stimulating hormone excess (HP:0002925)	2.92647277
19	Neoplasm of the tracheobronchial system (HP:0100552)	2.88382846
20	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.87291682
21	Intestinal atresia (HP:0011100)	2.87076335
22	Attenuation of retinal blood vessels (HP:0007843)	2.85956659
23	Cerebellar dysplasia (HP:0007033)	2.81200738
24	Congenital sensorineural hearing impairment (HP:0008527)	2.81085204
25	Depressed nasal tip (HP:0000437)	2.80559661
26	Cystic liver disease (HP:0006706)	2.79649100
27	Congenital stationary night blindness (HP:0007642)	2.72956611
28	Hyperglycinuria (HP:0003108)	2.72396725
29	Tubular atrophy (HP:0000092)	2.69555362
30	Abnormality of the renal medulla (HP:0100957)	2.63919437
31	Medial flaring of the eyebrow (HP:0010747)	2.59963742
32	Progressive cerebellar ataxia (HP:0002073)	2.59954333
33	Chronic hepatic failure (HP:0100626)	2.59291636
34	Ketoacidosis (HP:0001993)	2.54593167
35	Stomach cancer (HP:0012126)	2.52949495
36	Protruding tongue (HP:0010808)	2.50283461
37	Bony spicule pigmentary retinopathy (HP:0007737)	2.49692390
38	Generalized hypopigmentation of hair (HP:0011358)	2.49488877
39	Genetic anticipation (HP:0003743)	2.47296906
40	Abolished electroretinogram (ERG) (HP:0000550)	2.47144459
41	Ketosis (HP:0001946)	2.46908840
42	Febrile seizures (HP:0002373)	2.46369940
43	Type II lissencephaly (HP:0007260)	2.46322616
44	Lip pit (HP:0100267)	2.46011480
45	Decreased circulating renin level (HP:0003351)	2.39703617
46	Pancreatic islet-cell hyperplasia (HP:0004510)	2.36210072
47	Broad alveolar ridges (HP:0000187)	2.32759863
48	Congenital, generalized hypertrichosis (HP:0004540)	2.32740066
49	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.31889145
50	Hydroxyprolinuria (HP:0003080)	2.31004793
51	Abnormality of proline metabolism (HP:0010907)	2.31004793
52	Fatigable weakness (HP:0003473)	2.29564740
53	Abnormality of the neuromuscular junction (HP:0003398)	2.29564740
54	Fair hair (HP:0002286)	2.27993330
55	Abnormal drinking behavior (HP:0030082)	2.25643553
56	Polydipsia (HP:0001959)	2.25643553
57	Horizontal nystagmus (HP:0000666)	2.25493433
58	Hypoplasia of the pons (HP:0012110)	2.24134497
59	Prolonged QT interval (HP:0001657)	2.20040988
60	Abnormality of the aortic arch (HP:0012303)	2.18797433
61	Gait imbalance (HP:0002141)	2.16330235
62	Furrowed tongue (HP:0000221)	2.16198920
63	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.15380218
64	Abnormality of the nasal septum (HP:0000419)	2.14805380
65	Abnormality of the renal cortex (HP:0011035)	2.13389205
66	Tented upper lip vermilion (HP:0010804)	2.12865198
67	Infertility (HP:0000789)	2.11915899
68	Congenital primary aphakia (HP:0007707)	2.11330668
69	Absent speech (HP:0001344)	2.06558538
70	Thick nail (HP:0001805)	2.04654628
71	Clumsiness (HP:0002312)	2.01548850
72	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.01532606
73	Abnormality of the pons (HP:0007361)	2.01222039
74	Alveolar cell carcinoma (HP:0006519)	1.99825884
75	Cone-rod dystrophy (HP:0000548)	1.99766932
76	Asplenia (HP:0001746)	1.98842726
77	Popliteal pterygium (HP:0009756)	1.98692935
78	Neoplasm of the lung (HP:0100526)	1.94447338
79	Absent/shortened dynein arms (HP:0200106)	1.93518411
80	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.93518411
81	Anencephaly (HP:0002323)	1.93269619
82	Ectopic kidney (HP:0000086)	1.91974841
83	Duplicated collecting system (HP:0000081)	1.91519402
84	Enlarged penis (HP:0000040)	1.90461796
85	Genital tract atresia (HP:0001827)	1.89986937
86	Retinitis pigmentosa (HP:0000510)	1.88757016
87	Male pseudohermaphroditism (HP:0000037)	1.87991592
88	Tachypnea (HP:0002789)	1.87117203
89	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.86794370
90	Abnormality of serine family amino acid metabolism (HP:0010894)	1.86035518
91	Abnormality of glycine metabolism (HP:0010895)	1.86035518
92	Nephrogenic diabetes insipidus (HP:0009806)	1.85105402
93	Abnormality of the renal collecting system (HP:0004742)	1.82524321
94	3-Methylglutaconic aciduria (HP:0003535)	1.79872511
95	Increased corneal curvature (HP:0100692)	1.79840050
96	Keratoconus (HP:0000563)	1.79840050
97	Abnormal hair whorl (HP:0010721)	1.79652839
98	Widely spaced teeth (HP:0000687)	1.77333641
99	Vaginal atresia (HP:0000148)	1.76327392
100	Truncal obesity (HP:0001956)	1.75499840

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.36128398
2	AKT3	4.15574494
3	BMPR1B	3.52928721
4	ADRBK2	3.14805304
5	WNK3	2.84973388
6	PINK1	2.61759994
7	INSRR	2.58416186
8	STK38L	2.49420839
9	CASK	1.91220467
10	WNK4	1.87656465
11	MUSK	1.77572049
12	SGK2	1.72950567
13	NTRK3	1.70472182
14	CAMK1G	1.64184948
15	PNCK	1.60649831
16	MAP3K4	1.59194226
17	MAPKAPK3	1.57223016
18	STK39	1.54128726
19	EEF2K	1.39267573
20	OXSR1	1.37607790
21	TAOK1	1.31290279
22	NUAK1	1.30192154
23	SGK223	1.25267509
24	SGK494	1.25267509
25	LATS1	1.25051184
26	MAPK13	1.23288199
27	EPHA3	1.22709294
28	TAOK3	1.22490153
29	PRKD3	1.22392398
30	DAPK2	1.19725662
31	ZAK	1.19725510
32	MKNK2	1.19132434
33	PIK3CG	1.17601258
34	TNIK	1.17182936
35	MAP3K12	1.16932499
36	CAMK1D	1.13543621
37	STK38	1.12541671
38	YES1	1.05450424
39	ADRBK1	0.98715239
40	GRK1	0.96730105
41	TRPM7	0.96593431
42	TNK2	0.96076338
43	MAP2K6	0.93458294
44	PRKCE	0.93439691
45	MAP3K5	0.91158856
46	SGK3	0.90731963
47	ACVR1B	0.90178483
48	NLK	0.85082117
49	SGK1	0.83204340
50	STK3	0.82867874
51	WNK1	0.82164648
52	FGFR2	0.78326332
53	MAP2K7	0.76009022
54	FER	0.74868992
55	MAP2K4	0.74562110
56	ERN1	0.74338613
57	PLK2	0.71640567
58	PTK2B	0.71430224
59	CAMK1	0.70621143
60	IRAK1	0.70578503
61	MAPK11	0.67551893
62	ERBB2	0.65212389
63	MAP3K11	0.61426292
64	MAPKAPK5	0.60250567
65	FGFR3	0.54911533
66	PRKAA2	0.53744993
67	BRD4	0.53419513
68	MAP3K3	0.53001827
69	MARK1	0.50235887
70	ERBB4	0.48669003
71	CDK3	0.46907377
72	PAK3	0.45327164
73	DYRK1A	0.44052779
74	MTOR	0.43590271
75	CHUK	0.43510252
76	PHKG2	0.42067898
77	PHKG1	0.42067898
78	PRKCG	0.41866559
79	RPS6KB2	0.39680997
80	MKNK1	0.38619391
81	NME1	0.38122868
82	PRKCZ	0.37118303
83	PRKG1	0.34564761
84	PRKAA1	0.34373219
85	TGFBR1	0.34187861
86	CSNK1D	0.33812505
87	RPS6KA3	0.32858245
88	MELK	0.32189816
89	MAPK1	0.32063627
90	MARK2	0.31637472
91	PKN1	0.30518770
92	TYRO3	0.30155923
93	NEK6	0.29989157
94	PRKCI	0.29052994
95	GSK3B	0.28460307
96	TLK1	0.27733916
97	CSNK1E	0.26232648
98	AKT1	0.25891962
99	STK11	0.24034641
100	PRKCB	0.23871391

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Olfactory transduction_Homo sapiens_hsa04740	3.54021423
2	Butanoate metabolism_Homo sapiens_hsa00650	3.16546897
3	Phototransduction_Homo sapiens_hsa04744	2.72191246
4	ABC transporters_Homo sapiens_hsa02010	2.69426137
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.52464666
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.06758959
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.05531367
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.05370192
9	Circadian rhythm_Homo sapiens_hsa04710	2.01749219
10	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.94137292
11	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.90950501
12	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.86374794
13	Selenocompound metabolism_Homo sapiens_hsa00450	1.77678989
14	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.76262535
15	Homologous recombination_Homo sapiens_hsa03440	1.74445971
16	beta-Alanine metabolism_Homo sapiens_hsa00410	1.67643939
17	Lysine degradation_Homo sapiens_hsa00310	1.66797520
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.57683528
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.55198043
20	Histidine metabolism_Homo sapiens_hsa00340	1.52584514
21	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.48553028
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.46719707
23	Circadian entrainment_Homo sapiens_hsa04713	1.43482027
24	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.36739618
25	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.36238257
26	Nicotine addiction_Homo sapiens_hsa05033	1.33750492
27	Serotonergic synapse_Homo sapiens_hsa04726	1.32673584
28	Ether lipid metabolism_Homo sapiens_hsa00565	1.29565952
29	Salivary secretion_Homo sapiens_hsa04970	1.26032378
30	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.25828073
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.24645983
32	Morphine addiction_Homo sapiens_hsa05032	1.22087387
33	Propanoate metabolism_Homo sapiens_hsa00640	1.21265472
34	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.21159209
35	Fatty acid degradation_Homo sapiens_hsa00071	1.20214256
36	Fatty acid metabolism_Homo sapiens_hsa01212	1.18888006
37	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.16379468
38	Mineral absorption_Homo sapiens_hsa04978	1.15998555
39	Taste transduction_Homo sapiens_hsa04742	1.08573794
40	RNA polymerase_Homo sapiens_hsa03020	1.02298914
41	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.02153267
42	Peroxisome_Homo sapiens_hsa04146	1.00932479
43	Calcium signaling pathway_Homo sapiens_hsa04020	1.00723221
44	Retinol metabolism_Homo sapiens_hsa00830	0.98575570
45	Insulin resistance_Homo sapiens_hsa04931	0.91460411
46	cAMP signaling pathway_Homo sapiens_hsa04024	0.90121637
47	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.88820178
48	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.88045985
49	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.85930674
50	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.85515063
51	One carbon pool by folate_Homo sapiens_hsa00670	0.85214774
52	Glutamatergic synapse_Homo sapiens_hsa04724	0.84509168
53	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.82930709
54	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.82565449
55	Insulin secretion_Homo sapiens_hsa04911	0.82458281
56	Bile secretion_Homo sapiens_hsa04976	0.78195243
57	Glycerolipid metabolism_Homo sapiens_hsa00561	0.78117086
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.75295383
59	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.74130544
60	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.72700870
61	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.71788323
62	AMPK signaling pathway_Homo sapiens_hsa04152	0.67628539
63	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66862730
64	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.66170043
65	Caffeine metabolism_Homo sapiens_hsa00232	0.66045379
66	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.64813069
67	Glucagon signaling pathway_Homo sapiens_hsa04922	0.62632983
68	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.62605994
69	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.61723754
70	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.61367907
71	Cholinergic synapse_Homo sapiens_hsa04725	0.60722528
72	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.60301087
73	Arginine biosynthesis_Homo sapiens_hsa00220	0.58851503
74	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.58252681
75	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.57597031
76	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.57577796
77	Regulation of autophagy_Homo sapiens_hsa04140	0.56957672
78	Type II diabetes mellitus_Homo sapiens_hsa04930	0.56194385
79	GABAergic synapse_Homo sapiens_hsa04727	0.55509983
80	MicroRNAs in cancer_Homo sapiens_hsa05206	0.54597868
81	FoxO signaling pathway_Homo sapiens_hsa04068	0.52870827
82	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.51519420
83	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.49723623
84	mTOR signaling pathway_Homo sapiens_hsa04150	0.49395023
85	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.48170242
86	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.48156563
87	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.48133421
88	Tight junction_Homo sapiens_hsa04530	0.46692277
89	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.43417730
90	Basal transcription factors_Homo sapiens_hsa03022	0.41920668
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.41319407
92	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.40982563
93	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.40358744
94	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.39778684
95	Long-term depression_Homo sapiens_hsa04730	0.39462405
96	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.39089314
97	Pancreatic secretion_Homo sapiens_hsa04972	0.38655471
98	Metabolic pathways_Homo sapiens_hsa01100	0.38146296
99	Purine metabolism_Homo sapiens_hsa00230	0.37282600
100	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.37037008

POTEM

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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