ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	indole-containing compound catabolic process (GO:0042436)	4.93066774
2	indolalkylamine catabolic process (GO:0046218)	4.93066774
3	tryptophan catabolic process (GO:0006569)	4.93066774
4	response to pheromone (GO:0019236)	4.72609189
5	behavioral response to nicotine (GO:0035095)	4.57426203
6	indolalkylamine metabolic process (GO:0006586)	4.54795105
7	kynurenine metabolic process (GO:0070189)	4.46365086
8	fucose catabolic process (GO:0019317)	4.18969907
9	L-fucose metabolic process (GO:0042354)	4.18969907
10	L-fucose catabolic process (GO:0042355)	4.18969907
11	tryptophan metabolic process (GO:0006568)	4.08701172
12	adaptation of signaling pathway (GO:0023058)	3.98510161
13	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.86031306
14	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.72409479
15	respiratory chain complex IV assembly (GO:0008535)	3.59158822
16	amine catabolic process (GO:0009310)	3.54828931
17	cellular biogenic amine catabolic process (GO:0042402)	3.54828931
18	DNA deamination (GO:0045006)	3.47563764
19	axoneme assembly (GO:0035082)	3.43872133
20	protein polyglutamylation (GO:0018095)	3.34790992
21	cytochrome complex assembly (GO:0017004)	3.31408883
22	negative regulation of systemic arterial blood pressure (GO:0003085)	3.28610851
23	detection of light stimulus involved in sensory perception (GO:0050962)	3.24439213
24	detection of light stimulus involved in visual perception (GO:0050908)	3.24439213
25	establishment of protein localization to Golgi (GO:0072600)	3.24115407
26	multicellular organism reproduction (GO:0032504)	3.24073175
27	cellular ketone body metabolic process (GO:0046950)	3.23554053
28	indole-containing compound metabolic process (GO:0042430)	3.22165623
29	piRNA metabolic process (GO:0034587)	3.21840796
30	benzene-containing compound metabolic process (GO:0042537)	3.13847939
31	platelet dense granule organization (GO:0060155)	3.12002130
32	cell wall macromolecule metabolic process (GO:0044036)	3.09207434
33	water-soluble vitamin biosynthetic process (GO:0042364)	3.03083809
34	reflex (GO:0060004)	3.01055033
35	retinal cone cell development (GO:0046549)	2.95474039
36	regulation of cilium movement (GO:0003352)	2.93165973
37	cilium morphogenesis (GO:0060271)	2.92197237
38	ketone body metabolic process (GO:1902224)	2.90890952
39	photoreceptor cell maintenance (GO:0045494)	2.89865228
40	epithelial cilium movement (GO:0003351)	2.88286465
41	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.86464017
42	nonmotile primary cilium assembly (GO:0035058)	2.84584084
43	adenosine metabolic process (GO:0046085)	2.84547067
44	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.83563973
45	sperm motility (GO:0030317)	2.83561316
46	regulation of hippo signaling (GO:0035330)	2.83303290
47	cilium or flagellum-dependent cell motility (GO:0001539)	2.82330469
48	NAD biosynthetic process (GO:0009435)	2.78489114
49	protein complex biogenesis (GO:0070271)	2.78352735
50	behavioral response to ethanol (GO:0048149)	2.78251685
51	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.77492698
52	protein targeting to Golgi (GO:0000042)	2.75500306
53	proline transport (GO:0015824)	2.74968622
54	aromatic amino acid family catabolic process (GO:0009074)	2.71000172
55	negative regulation of telomere maintenance (GO:0032205)	2.69737748
56	kidney morphogenesis (GO:0060993)	2.68319046
57	DNA double-strand break processing (GO:0000729)	2.67648522
58	regulation of action potential (GO:0098900)	2.67187808
59	cilium organization (GO:0044782)	2.66293712
60	preassembly of GPI anchor in ER membrane (GO:0016254)	2.66280420
61	mitochondrial respiratory chain complex assembly (GO:0033108)	2.61239014
62	mannosylation (GO:0097502)	2.61089183
63	peptidyl-histidine modification (GO:0018202)	2.59288497
64	protein localization to cilium (GO:0061512)	2.58366117
65	positive regulation of glycolytic process (GO:0045821)	2.57748220
66	DNA methylation involved in gamete generation (GO:0043046)	2.57498295
67	neural tube formation (GO:0001841)	2.57204073
68	cilium assembly (GO:0042384)	2.56786870
69	organic cation transport (GO:0015695)	2.52611185
70	regulation of telomere maintenance (GO:0032204)	2.51235403
71	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.50713377
72	photoreceptor cell development (GO:0042461)	2.49639083
73	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.48488069
74	neuronal action potential (GO:0019228)	2.47094184
75	protein localization to Golgi apparatus (GO:0034067)	2.46995887
76	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.46547280
77	arginine catabolic process (GO:0006527)	2.46148070
78	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.45204214
79	NADH dehydrogenase complex assembly (GO:0010257)	2.45204214
80	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.45204214
81	cornea development in camera-type eye (GO:0061303)	2.44768351
82	positive regulation of fatty acid transport (GO:2000193)	2.44119410
83	protein K11-linked deubiquitination (GO:0035871)	2.43333560
84	cell wall macromolecule catabolic process (GO:0016998)	2.43071139
85	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.43057775
86	iron ion import (GO:0097286)	2.42251377
87	cilium movement (GO:0003341)	2.41416160
88	rhodopsin mediated signaling pathway (GO:0016056)	2.40846646
89	auditory receptor cell stereocilium organization (GO:0060088)	2.40216789
90	cellular response to sterol (GO:0036315)	2.39066369
91	thyroid hormone metabolic process (GO:0042403)	2.38414724
92	pyrimidine nucleobase catabolic process (GO:0006208)	2.38327423
93	rRNA catabolic process (GO:0016075)	2.37607162
94	oxidative demethylation (GO:0070989)	2.37088934
95	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.36253665
96	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.35706001
97	negative regulation of sodium ion transport (GO:0010766)	2.35014290
98	double-strand break repair via homologous recombination (GO:0000724)	2.34867722
99	regulation of meiosis I (GO:0060631)	2.34413107
100	recombinational repair (GO:0000725)	2.33739460

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.55264735
2	* ZNF274_21170338_ChIP-Seq_K562_Hela	3.45581578
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.92779899
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.87366029
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.55247822
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.38186581
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.29571747
8	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.29395329
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.25885009
10	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.25711358
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.25586715
12	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.20683247
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.17574539
14	PIAS1_25552417_ChIP-Seq_VCAP_Human	2.14892697
15	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.10322092
16	* CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.08922879
17	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.04544757
18	TAF15_26573619_Chip-Seq_HEK293_Human	2.01918275
19	P300_19829295_ChIP-Seq_ESCs_Human	2.00471285
20	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.96855297
21	EWS_26573619_Chip-Seq_HEK293_Human	1.94171555
22	* ER_23166858_ChIP-Seq_MCF-7_Human	1.93084748
23	* CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.90969296
24	FUS_26573619_Chip-Seq_HEK293_Human	1.84629798
25	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.83415578
26	CBP_20019798_ChIP-Seq_JUKART_Human	1.83415578
27	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.73579810
28	BCAT_22108803_ChIP-Seq_LS180_Human	1.70798234
29	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.67271935
30	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.67271935
31	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.66747265
32	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.66211572
33	STAT3_23295773_ChIP-Seq_U87_Human	1.65121124
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.63278224
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.63110649
36	* TCF4_23295773_ChIP-Seq_U87_Human	1.58941923
37	AR_25329375_ChIP-Seq_VCAP_Human	1.52029065
38	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.51155361
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.51118293
40	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.50408421
41	AR_21572438_ChIP-Seq_LNCaP_Human	1.50022129
42	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.47314461
43	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.46417210
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.45745356
45	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.45722608
46	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.42278946
47	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41421537
48	TCF4_22108803_ChIP-Seq_LS180_Human	1.40415997
49	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.39745799
50	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.39051862
51	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.36764558
52	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.36558416
53	RUNX2_22187159_ChIP-Seq_PCA_Human	1.36518482
54	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.36255067
55	* SMAD3_21741376_ChIP-Seq_EPCs_Human	1.34211945
56	* PRDM14_20953172_ChIP-Seq_ESCs_Human	1.31543016
57	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.29879689
58	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.29879689
59	TP53_22573176_ChIP-Seq_HFKS_Human	1.27293509
60	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.22929859
61	* TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.22211249
62	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.21696369
63	CDX2_22108803_ChIP-Seq_LS180_Human	1.20939405
64	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.20548055
65	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.20250554
66	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.20163464
67	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.19429816
68	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.18426457
69	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.18333668
70	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.18023615
71	IRF1_19129219_ChIP-ChIP_H3396_Human	1.16867777
72	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.16761831
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.15166193
74	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.14240502
75	NCOR_22424771_ChIP-Seq_293T_Human	1.12988893
76	P53_22387025_ChIP-Seq_ESCs_Mouse	1.11916982
77	AR_20517297_ChIP-Seq_VCAP_Human	1.11160669
78	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08880919
79	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.08703595
80	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.06968657
81	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06938489
82	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.05504867
83	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.05504867
84	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.04942227
85	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.04640276
86	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.03828328
87	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.03597185
88	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.03018939
89	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.02036938
90	REST_21632747_ChIP-Seq_MESCs_Mouse	1.01903564
91	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.01399066
92	* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00496502
93	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.97741843
94	AHR_22903824_ChIP-Seq_MCF-7_Human	0.97468403
95	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.96189215
96	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.96120714
97	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.94168588
98	P300_18555785_Chip-Seq_ESCs_Mouse	0.94080706
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.93739131
100	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.92767205

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002736_abnormal_nociception_after	3.17413669
2	MP0001968_abnormal_touch/_nociception	3.16763332
3	MP0008877_abnormal_DNA_methylation	3.06189532
4	MP0004043_abnormal_pH_regulation	2.85501918
5	MP0005551_abnormal_eye_electrophysiolog	2.62710540
6	MP0005646_abnormal_pituitary_gland	2.59603480
7	MP0003011_delayed_dark_adaptation	2.59282777
8	MP0003195_calcinosis	2.52762364
9	MP0003646_muscle_fatigue	2.50520871
10	MP0000569_abnormal_digit_pigmentation	2.22731135
11	MP0002102_abnormal_ear_morphology	2.22191328
12	MP0002876_abnormal_thyroid_physiology	2.12008538
13	MP0003787_abnormal_imprinting	2.04764735
14	MP0002138_abnormal_hepatobiliary_system	2.03173940
15	MP0005645_abnormal_hypothalamus_physiol	1.99282893
16	MP0002234_abnormal_pharynx_morphology	1.98602683
17	MP0005167_abnormal_blood-brain_barrier	1.95650716
18	MP0008872_abnormal_physiological_respon	1.89746596
19	MP0002837_dystrophic_cardiac_calcinosis	1.88880097
20	MP0001501_abnormal_sleep_pattern	1.87181260
21	MP0005253_abnormal_eye_physiology	1.84493269
22	MP0008875_abnormal_xenobiotic_pharmacok	1.82741257
23	MP0006072_abnormal_retinal_apoptosis	1.82314844
24	MP0000427_abnormal_hair_cycle	1.81236563
25	MP0003950_abnormal_plasma_membrane	1.80274684
26	MP0009046_muscle_twitch	1.79163577
27	MP0010386_abnormal_urinary_bladder	1.71582396
28	MP0005410_abnormal_fertilization	1.66813839
29	MP0003718_maternal_effect	1.65391865
30	MP0002735_abnormal_chemical_nociception	1.64755090
31	MP0009745_abnormal_behavioral_response	1.55185704
32	MP0002733_abnormal_thermal_nociception	1.54776893
33	MP0000631_abnormal_neuroendocrine_gland	1.52935596
34	MP0006292_abnormal_olfactory_placode	1.49575085
35	MP0001486_abnormal_startle_reflex	1.42428740
36	MP0001970_abnormal_pain_threshold	1.41430320
37	MP0002272_abnormal_nervous_system	1.40812403
38	MP0000372_irregular_coat_pigmentation	1.36922971
39	MP0004147_increased_porphyrin_level	1.36180619
40	MP0003045_fibrosis	1.31917440
41	MP0005670_abnormal_white_adipose	1.31814414
42	MP0000538_abnormal_urinary_bladder	1.31692730
43	MP0005310_abnormal_salivary_gland	1.28223781
44	MP0000230_abnormal_systemic_arterial	1.26977673
45	MP0001986_abnormal_taste_sensitivity	1.24373188
46	MP0002557_abnormal_social/conspecific_i	1.22327695
47	MP0001485_abnormal_pinna_reflex	1.20193252
48	MP0003252_abnormal_bile_duct	1.19769077
49	MP0005174_abnormal_tail_pigmentation	1.18851170
50	MP0005389_reproductive_system_phenotype	1.17212520
51	MP0001984_abnormal_olfaction	1.15867784
52	MP0003698_abnormal_male_reproductive	1.13266434
53	MP0002638_abnormal_pupillary_reflex	1.12314045
54	MP0001919_abnormal_reproductive_system	1.11898496
55	MP0002160_abnormal_reproductive_system	1.09359810
56	MP0004215_abnormal_myocardial_fiber	1.05059809
57	MP0005085_abnormal_gallbladder_physiolo	1.04991957
58	MP0005084_abnormal_gallbladder_morpholo	1.04533567
59	MP0008775_abnormal_heart_ventricle	1.04432009
60	MP0002938_white_spotting	1.03638004
61	MP0004142_abnormal_muscle_tone	1.02136060
62	MP0008995_early_reproductive_senescence	1.01323053
63	MP0005395_other_phenotype	1.00542891
64	MP0000613_abnormal_salivary_gland	0.99897963
65	MP0002067_abnormal_sensory_capabilities	0.97578922
66	MP0005075_abnormal_melanosome_morpholog	0.97554189
67	MP0001756_abnormal_urination	0.97551612
68	MP0006276_abnormal_autonomic_nervous	0.97327955
69	MP0001664_abnormal_digestion	0.96013544
70	MP0004742_abnormal_vestibular_system	0.96011119
71	MP0000383_abnormal_hair_follicle	0.95612512
72	MP0003880_abnormal_central_pattern	0.94818713
73	MP0005083_abnormal_biliary_tract	0.93173300
74	MP0002572_abnormal_emotion/affect_behav	0.92990353
75	MP0001929_abnormal_gametogenesis	0.92922029
76	MP0002095_abnormal_skin_pigmentation	0.92753030
77	MP0004924_abnormal_behavior	0.91983005
78	MP0005386_behavior/neurological_phenoty	0.91983005
79	MP0002734_abnormal_mechanical_nocicepti	0.91942154
80	MP0008058_abnormal_DNA_repair	0.89950316
81	MP0000516_abnormal_urinary_system	0.89802289
82	MP0005367_renal/urinary_system_phenotyp	0.89802289
83	MP0004885_abnormal_endolymph	0.88326261
84	MP0005332_abnormal_amino_acid	0.88032322
85	MP0002168_other_aberrant_phenotype	0.87002484
86	MP0002064_seizures	0.86373935
87	MP0003633_abnormal_nervous_system	0.84475695
88	MP0000647_abnormal_sebaceous_gland	0.83359077
89	MP0002210_abnormal_sex_determination	0.82617860
90	MP0005195_abnormal_posterior_eye	0.82420401
91	MP0002928_abnormal_bile_duct	0.81735423
92	MP0000653_abnormal_sex_gland	0.81247424
93	MP0002229_neurodegeneration	0.81213554
94	MP0004145_abnormal_muscle_electrophysio	0.80420736
95	MP0005636_abnormal_mineral_homeostasis	0.79511278
96	MP0002752_abnormal_somatic_nervous	0.78672938
97	MP0001765_abnormal_ion_homeostasis	0.78329558
98	MP0002751_abnormal_autonomic_nervous	0.78185209
99	MP0003136_yellow_coat_color	0.78057342
100	MP0003635_abnormal_synaptic_transmissio	0.77826961

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.74784447
2	Pancreatic fibrosis (HP:0100732)	4.49801246
3	Congenital stationary night blindness (HP:0007642)	4.23501089
4	Abnormality of midbrain morphology (HP:0002418)	4.15277527
5	Molar tooth sign on MRI (HP:0002419)	4.15277527
6	True hermaphroditism (HP:0010459)	3.88154659
7	Nephronophthisis (HP:0000090)	3.54337203
8	Genetic anticipation (HP:0003743)	3.45638472
9	Hyperventilation (HP:0002883)	3.44084905
10	Chronic hepatic failure (HP:0100626)	3.31793870
11	Abnormality of the renal medulla (HP:0100957)	3.29794405
12	Abnormality of the renal cortex (HP:0011035)	3.29702684
13	Attenuation of retinal blood vessels (HP:0007843)	3.21347008
14	Gaze-evoked nystagmus (HP:0000640)	3.21309686
15	Cystic liver disease (HP:0006706)	3.09543621
16	Type II lissencephaly (HP:0007260)	3.08609721
17	Medial flaring of the eyebrow (HP:0010747)	3.00848723
18	Progressive cerebellar ataxia (HP:0002073)	2.90457462
19	Tubular atrophy (HP:0000092)	2.75487609
20	Fair hair (HP:0002286)	2.72186630
21	Abnormal drinking behavior (HP:0030082)	2.70231026
22	Polydipsia (HP:0001959)	2.70231026
23	Increased corneal curvature (HP:0100692)	2.61068978
24	Keratoconus (HP:0000563)	2.61068978
25	Broad-based gait (HP:0002136)	2.55035685
26	Abnormal rod and cone electroretinograms (HP:0008323)	2.54174303
27	Abnormality of the pons (HP:0007361)	2.50036654
28	Decreased circulating renin level (HP:0003351)	2.48707265
29	Amelogenesis imperfecta (HP:0000705)	2.45401930
30	Hypoplasia of the pons (HP:0012110)	2.44931358
31	Congenital hepatic fibrosis (HP:0002612)	2.42401187
32	Generalized hypopigmentation of hair (HP:0011358)	2.42296217
33	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.42067199
34	Sclerocornea (HP:0000647)	2.40998382
35	Hypothermia (HP:0002045)	2.39719489
36	Decreased central vision (HP:0007663)	2.37565550
37	Cerebellar dysplasia (HP:0007033)	2.36904322
38	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.35034384
39	Pendular nystagmus (HP:0012043)	2.34340709
40	Abolished electroretinogram (ERG) (HP:0000550)	2.34271396
41	Large for gestational age (HP:0001520)	2.33997981
42	Renal cortical cysts (HP:0000803)	2.32546420
43	Anencephaly (HP:0002323)	2.28031935
44	Abnormal biliary tract physiology (HP:0012439)	2.26866377
45	Bile duct proliferation (HP:0001408)	2.26866377
46	Congenital, generalized hypertrichosis (HP:0004540)	2.26512772
47	Gait imbalance (HP:0002141)	2.25450046
48	Congenital primary aphakia (HP:0007707)	2.22064252
49	Protruding tongue (HP:0010808)	2.20617619
50	Febrile seizures (HP:0002373)	2.16628939
51	Bony spicule pigmentary retinopathy (HP:0007737)	2.15129625
52	Male pseudohermaphroditism (HP:0000037)	2.11635469
53	Polyuria (HP:0000103)	2.09262496
54	Furrowed tongue (HP:0000221)	2.07553105
55	Stomach cancer (HP:0012126)	2.06712366
56	Methylmalonic acidemia (HP:0002912)	2.06485724
57	Genital tract atresia (HP:0001827)	2.04725787
58	Postaxial foot polydactyly (HP:0001830)	2.03525812
59	Tubulointerstitial abnormality (HP:0001969)	2.01224948
60	Tubulointerstitial nephritis (HP:0001970)	2.00738781
61	Abnormality of the axillary hair (HP:0100134)	2.00710649
62	Abnormality of secondary sexual hair (HP:0009888)	2.00710649
63	Inability to walk (HP:0002540)	1.99983501
64	Abnormality of macular pigmentation (HP:0008002)	1.96498398
65	Progressive inability to walk (HP:0002505)	1.95675071
66	Prostate neoplasm (HP:0100787)	1.95637534
67	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.92586417
68	Absent/shortened dynein arms (HP:0200106)	1.92586417
69	Nephrogenic diabetes insipidus (HP:0009806)	1.91583815
70	Small hand (HP:0200055)	1.91541546
71	Clumsiness (HP:0002312)	1.90663307
72	Lissencephaly (HP:0001339)	1.89821526
73	Hyperglycinuria (HP:0003108)	1.88204516
74	Ketosis (HP:0001946)	1.88027103
75	Severe muscular hypotonia (HP:0006829)	1.87983899
76	Hypoplasia of the uterus (HP:0000013)	1.87892433
77	Vaginal atresia (HP:0000148)	1.87074689
78	Aplasia/hypoplasia of the uterus (HP:0008684)	1.86702055
79	Severe visual impairment (HP:0001141)	1.86179272
80	Ketoacidosis (HP:0001993)	1.85977102
81	Pachygyria (HP:0001302)	1.85919487
82	Bulbous nose (HP:0000414)	1.84341835
83	Postaxial hand polydactyly (HP:0001162)	1.83915326
84	Absent speech (HP:0001344)	1.82967107
85	Increased CSF lactate (HP:0002490)	1.81863356
86	Focal seizures (HP:0007359)	1.81357886
87	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.80880094
88	Widely spaced teeth (HP:0000687)	1.77052348
89	Dandy-Walker malformation (HP:0001305)	1.75751328
90	Poor coordination (HP:0002370)	1.75024334
91	Type I transferrin isoform profile (HP:0003642)	1.74452771
92	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.73947131
93	Abnormal protein N-linked glycosylation (HP:0012347)	1.73947131
94	Abnormal protein glycosylation (HP:0012346)	1.73947131
95	Abnormal glycosylation (HP:0012345)	1.73947131
96	Tubulointerstitial fibrosis (HP:0005576)	1.72772853
97	Short tibia (HP:0005736)	1.72749684
98	Mitochondrial inheritance (HP:0001427)	1.69649024
99	Abnormality of the nasal septum (HP:0000419)	1.68945244
100	Congenital sensorineural hearing impairment (HP:0008527)	1.68926272

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.35465398
2	AKT3	3.10376619
3	NUAK1	2.95094417
4	ACVR1B	2.93213772
5	BMPR1B	2.91210504
6	ADRBK2	2.71785954
7	ZAK	2.57577373
8	GRK1	2.42201040
9	STK39	2.12174463
10	MKNK2	2.09183614
11	MAP4K2	2.06924305
12	PINK1	2.06086709
13	WNK4	2.06027117
14	OXSR1	2.05924545
15	WNK3	1.95536932
16	INSRR	1.88327406
17	MAPK13	1.80897736
18	TAOK3	1.73451174
19	TLK1	1.73205281
20	CASK	1.55440067
21	DAPK2	1.53710923
22	MST4	1.51742303
23	TXK	1.50499779
24	EIF2AK3	1.49099435
25	MAPKAPK3	1.46612050
26	STK38L	1.40544408
27	MAP3K4	1.26577238
28	MYLK	1.16004891
29	PLK2	1.13843542
30	MAPKAPK5	1.07075619
31	TNIK	1.05838375
32	ADRBK1	1.05629906
33	PRKCE	1.00081718
34	PAK3	0.98566011
35	BRSK2	0.97337349
36	TNK2	0.89431272
37	VRK1	0.83491827
38	MUSK	0.82918201
39	DMPK	0.80568796
40	MAP2K7	0.80265605
41	NTRK3	0.79644448
42	TRIM28	0.79156690
43	MKNK1	0.78605964
44	EIF2AK1	0.75039173
45	TGFBR1	0.74432352
46	SGK2	0.73917532
47	FER	0.73314113
48	MAP2K6	0.73126815
49	ERBB3	0.73082492
50	PIK3CG	0.72748131
51	BCR	0.71674508
52	PIK3CA	0.71153414
53	STK3	0.70560445
54	PTK2B	0.70069084
55	TEC	0.69958527
56	DYRK2	0.69804614
57	MARK1	0.68695311
58	PHKG2	0.67583637
59	PHKG1	0.67583637
60	PLK4	0.66341143
61	CAMKK2	0.61115461
62	PRKCG	0.58843919
63	LATS1	0.57882672
64	CSNK1G2	0.54537583
65	CAMK1D	0.54285934
66	GRK7	0.53806622
67	TIE1	0.53296414
68	CSNK1A1L	0.53066235
69	PRKAA2	0.52241326
70	TRPM7	0.51832570
71	CSNK1G1	0.49760482
72	CAMK1	0.49613099
73	PLK3	0.49606877
74	OBSCN	0.49102723
75	RPS6KA5	0.47923526
76	SGK494	0.47548112
77	SGK223	0.47548112
78	PRKCQ	0.47321815
79	IRAK1	0.46766935
80	NME1	0.45999604
81	IKBKB	0.45853471
82	GRK5	0.44129920
83	CSNK1A1	0.43346441
84	PRKACA	0.42993353
85	CAMK1G	0.41832718
86	CSNK1G3	0.41242023
87	PRKAA1	0.40034664
88	CAMK2A	0.38311809
89	PKN1	0.36674772
90	FGFR2	0.36224581
91	CHUK	0.35732167
92	STK38	0.35572832
93	IGF1R	0.33148342
94	PRKG1	0.33090551
95	ERBB2	0.31817256
96	PRKCA	0.29858333
97	CSNK1D	0.28813773
98	EIF2AK2	0.28317161
99	ROCK1	0.27495177
100	SGK1	0.26454847

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	2.99118330
2	Phototransduction_Homo sapiens_hsa04744	2.68743512
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.59316450
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.55628853
5	Butanoate metabolism_Homo sapiens_hsa00650	2.47002052
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.41147764
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23027953
8	Tryptophan metabolism_Homo sapiens_hsa00380	2.22106779
9	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.18562021
10	RNA polymerase_Homo sapiens_hsa03020	2.10276973
11	Propanoate metabolism_Homo sapiens_hsa00640	2.01531451
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.00077741
13	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.91401080
14	Olfactory transduction_Homo sapiens_hsa04740	1.78585457
15	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.78330313
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.73071090
17	Basal transcription factors_Homo sapiens_hsa03022	1.65388079
18	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.65237341
19	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.63875086
20	Ether lipid metabolism_Homo sapiens_hsa00565	1.60879433
21	Nicotine addiction_Homo sapiens_hsa05033	1.55303746
22	Homologous recombination_Homo sapiens_hsa03440	1.45234044
23	ABC transporters_Homo sapiens_hsa02010	1.44605456
24	Selenocompound metabolism_Homo sapiens_hsa00450	1.41398269
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.38954768
26	Protein export_Homo sapiens_hsa03060	1.36492327
27	One carbon pool by folate_Homo sapiens_hsa00670	1.35042143
28	beta-Alanine metabolism_Homo sapiens_hsa00410	1.31673729
29	RNA degradation_Homo sapiens_hsa03018	1.26633618
30	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.25213043
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.23468964
32	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.22695656
33	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.21319500
34	Peroxisome_Homo sapiens_hsa04146	1.21290689
35	Oxidative phosphorylation_Homo sapiens_hsa00190	1.20300470
36	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.19284343
37	Asthma_Homo sapiens_hsa05310	1.17122743
38	Taste transduction_Homo sapiens_hsa04742	1.16371011
39	Chemical carcinogenesis_Homo sapiens_hsa05204	1.16223112
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.10798253
41	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.10147874
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.06587180
43	Morphine addiction_Homo sapiens_hsa05032	1.05164353
44	Insulin secretion_Homo sapiens_hsa04911	1.03298252
45	Salivary secretion_Homo sapiens_hsa04970	1.02939737
46	Retinol metabolism_Homo sapiens_hsa00830	1.00565902
47	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.98137629
48	Serotonergic synapse_Homo sapiens_hsa04726	0.95549934
49	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.92565082
50	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.92002649
51	Purine metabolism_Homo sapiens_hsa00230	0.90619716
52	Mineral absorption_Homo sapiens_hsa04978	0.89310320
53	Histidine metabolism_Homo sapiens_hsa00340	0.87333186
54	Glutamatergic synapse_Homo sapiens_hsa04724	0.81661400
55	Circadian entrainment_Homo sapiens_hsa04713	0.81105578
56	Regulation of autophagy_Homo sapiens_hsa04140	0.79217329
57	Proteasome_Homo sapiens_hsa03050	0.77594152
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.77317746
59	Type I diabetes mellitus_Homo sapiens_hsa04940	0.77267946
60	Circadian rhythm_Homo sapiens_hsa04710	0.75251079
61	Fatty acid metabolism_Homo sapiens_hsa01212	0.75130647
62	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.73963339
63	Fatty acid degradation_Homo sapiens_hsa00071	0.73824813
64	Pyrimidine metabolism_Homo sapiens_hsa00240	0.73467102
65	Parkinsons disease_Homo sapiens_hsa05012	0.71474977
66	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.70624561
67	Glycerolipid metabolism_Homo sapiens_hsa00561	0.69874812
68	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.69528088
69	Graft-versus-host disease_Homo sapiens_hsa05332	0.68346816
70	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.68303577
71	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.68248113
72	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.68118545
73	Calcium signaling pathway_Homo sapiens_hsa04020	0.67000824
74	Allograft rejection_Homo sapiens_hsa05330	0.64414305
75	GABAergic synapse_Homo sapiens_hsa04727	0.62603795
76	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.62063635
77	Huntingtons disease_Homo sapiens_hsa05016	0.61932413
78	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.61436992
79	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.60329964
80	Non-homologous end-joining_Homo sapiens_hsa03450	0.60282377
81	Lysine degradation_Homo sapiens_hsa00310	0.59610967
82	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.59096527
83	Fat digestion and absorption_Homo sapiens_hsa04975	0.57662828
84	Metabolic pathways_Homo sapiens_hsa01100	0.57438757
85	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.54744025
86	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.46850683
87	Cocaine addiction_Homo sapiens_hsa05030	0.45640560
88	Sphingolipid metabolism_Homo sapiens_hsa00600	0.45354821
89	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.45250029
90	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.42689893
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.41244163
92	cAMP signaling pathway_Homo sapiens_hsa04024	0.40997134
93	Sulfur metabolism_Homo sapiens_hsa00920	0.39513947
94	Alzheimers disease_Homo sapiens_hsa05010	0.39439586
95	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.38053914
96	Long-term depression_Homo sapiens_hsa04730	0.37800262
97	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.37500610
98	Cardiac muscle contraction_Homo sapiens_hsa04260	0.36305819
99	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.36095086
100	Amphetamine addiction_Homo sapiens_hsa05031	0.35279906

POTEH

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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