ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.79113196
2	fucose catabolic process (GO:0019317)	4.55587875
3	L-fucose metabolic process (GO:0042354)	4.55587875
4	L-fucose catabolic process (GO:0042355)	4.55587875
5	DNA deamination (GO:0045006)	4.00488813
6	regulation of cilium movement (GO:0003352)	3.95842367
7	tryptophan catabolic process (GO:0006569)	3.75440471
8	indole-containing compound catabolic process (GO:0042436)	3.75440471
9	indolalkylamine catabolic process (GO:0046218)	3.75440471
10	indolalkylamine metabolic process (GO:0006586)	3.74782685
11	water-soluble vitamin biosynthetic process (GO:0042364)	3.57704855
12	kynurenine metabolic process (GO:0070189)	3.54631348
13	piRNA metabolic process (GO:0034587)	3.36007144
14	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.34915301
15	tryptophan metabolic process (GO:0006568)	3.33975411
16	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.29042911
17	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.24348792
18	gamma-aminobutyric acid transport (GO:0015812)	3.23727726
19	retinal cone cell development (GO:0046549)	3.22395812
20	protein polyglutamylation (GO:0018095)	3.13556624
21	regulation of hexokinase activity (GO:1903299)	3.12682058
22	regulation of glucokinase activity (GO:0033131)	3.12682058
23	indole-containing compound metabolic process (GO:0042430)	3.06054900
24	cellular ketone body metabolic process (GO:0046950)	3.05891430
25	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.02671692
26	NADH dehydrogenase complex assembly (GO:0010257)	3.02671692
27	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.02671692
28	neuronal action potential (GO:0019228)	3.01812151
29	positive regulation of meiosis (GO:0045836)	3.00865193
30	axoneme assembly (GO:0035082)	3.00367060
31	regulation of action potential (GO:0098900)	2.99042588
32	primary amino compound metabolic process (GO:1901160)	2.98885642
33	protein complex biogenesis (GO:0070271)	2.98128742
34	response to pheromone (GO:0019236)	2.97361053
35	cAMP catabolic process (GO:0006198)	2.96071245
36	serotonin metabolic process (GO:0042428)	2.95355952
37	epithelial cilium movement (GO:0003351)	2.94550354
38	detection of light stimulus involved in sensory perception (GO:0050962)	2.94484477
39	detection of light stimulus involved in visual perception (GO:0050908)	2.94484477
40	regulation of meiosis I (GO:0060631)	2.94409822
41	protein-cofactor linkage (GO:0018065)	2.91753318
42	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.83279590
43	sulfation (GO:0051923)	2.83018637
44	nonmotile primary cilium assembly (GO:0035058)	2.81641857
45	positive regulation of meiotic cell cycle (GO:0051446)	2.80209410
46	regulation of microtubule-based movement (GO:0060632)	2.80207387
47	preassembly of GPI anchor in ER membrane (GO:0016254)	2.79896010
48	ketone body metabolic process (GO:1902224)	2.76468753
49	photoreceptor cell development (GO:0042461)	2.73805125
50	protein localization to cilium (GO:0061512)	2.73142024
51	dopamine transport (GO:0015872)	2.72547200
52	cyclic nucleotide catabolic process (GO:0009214)	2.70540691
53	kidney morphogenesis (GO:0060993)	2.70080393
54	cornea development in camera-type eye (GO:0061303)	2.69341441
55	negative regulation of telomere maintenance (GO:0032205)	2.69013962
56	single strand break repair (GO:0000012)	2.66199473
57	mitochondrial respiratory chain complex assembly (GO:0033108)	2.65695444
58	respiratory chain complex IV assembly (GO:0008535)	2.65510138
59	neural tube formation (GO:0001841)	2.64284185
60	pyrimidine nucleobase catabolic process (GO:0006208)	2.59707526
61	DNA methylation involved in gamete generation (GO:0043046)	2.58434934
62	somite development (GO:0061053)	2.58236329
63	negative regulation of mast cell activation (GO:0033004)	2.56873577
64	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.56092077
65	platelet dense granule organization (GO:0060155)	2.55661481
66	membrane depolarization during action potential (GO:0086010)	2.55481938
67	transmission of nerve impulse (GO:0019226)	2.55178003
68	regulation of mesoderm development (GO:2000380)	2.53244604
69	S-adenosylmethionine metabolic process (GO:0046500)	2.53139413
70	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.52317636
71	oxidative demethylation (GO:0070989)	2.52203864
72	glycerophospholipid catabolic process (GO:0046475)	2.51895811
73	cellular biogenic amine catabolic process (GO:0042402)	2.51640213
74	amine catabolic process (GO:0009310)	2.51640213
75	regulation of synapse maturation (GO:0090128)	2.51100844
76	photoreceptor cell maintenance (GO:0045494)	2.50027570
77	negative regulation of heart rate (GO:0010459)	2.48632263
78	cilium organization (GO:0044782)	2.48276187
79	cilium morphogenesis (GO:0060271)	2.48021290
80	reflex (GO:0060004)	2.46523686
81	positive regulation of action potential (GO:0045760)	2.46306412
82	nucleobase catabolic process (GO:0046113)	2.45658019
83	exogenous drug catabolic process (GO:0042738)	2.44285255
84	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.43948690
85	aromatic amino acid family catabolic process (GO:0009074)	2.43502685
86	adaptation of signaling pathway (GO:0023058)	2.43197674
87	action potential (GO:0001508)	2.42576181
88	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.41996056
89	GPI anchor metabolic process (GO:0006505)	2.40145412
90	benzene-containing compound metabolic process (GO:0042537)	2.40040254
91	parturition (GO:0007567)	2.39726753
92	mannosylation (GO:0097502)	2.39482030
93	inositol phosphate catabolic process (GO:0071545)	2.38560537
94	alkaloid metabolic process (GO:0009820)	2.37260832
95	eye photoreceptor cell development (GO:0042462)	2.36540467
96	magnesium ion transport (GO:0015693)	2.36048524
97	cilium assembly (GO:0042384)	2.35279233
98	drug catabolic process (GO:0042737)	2.35247401
99	male meiosis I (GO:0007141)	2.35192912
100	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.34727121

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.45340595
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.31003112
3	EZH2_22144423_ChIP-Seq_EOC_Human	3.23057786
4	VDR_22108803_ChIP-Seq_LS180_Human	3.08819678
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.79818824
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.56595809
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.45663373
8	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.39069794
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.31837096
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.30911703
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.29488563
12	TAF15_26573619_Chip-Seq_HEK293_Human	2.17672807
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.11595726
14	FUS_26573619_Chip-Seq_HEK293_Human	2.08831608
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.04810763
16	P300_19829295_ChIP-Seq_ESCs_Human	2.01569587
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.99036711
18	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.94392121
19	EWS_26573619_Chip-Seq_HEK293_Human	1.94251625
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.88434847
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.78591826
22	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.66891599
23	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.63922793
24	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.63477600
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.62347459
26	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.61910176
27	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.61751927
28	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.61339599
29	SMAD4_21799915_ChIP-Seq_A2780_Human	1.57879462
30	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.55078462
31	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.55078313
32	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.54989793
33	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.53433543
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.51455106
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.51455106
36	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.50393799
37	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.49343513
38	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.48772282
39	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.48291387
40	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.46604020
41	STAT3_23295773_ChIP-Seq_U87_Human	1.46596842
42	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.46346007
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.46267888
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.46167423
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.44371562
46	IRF1_19129219_ChIP-ChIP_H3396_Human	1.44354064
47	AR_25329375_ChIP-Seq_VCAP_Human	1.43788881
48	REST_21632747_ChIP-Seq_MESCs_Mouse	1.43136888
49	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.42032481
50	TCF4_23295773_ChIP-Seq_U87_Human	1.41291256
51	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.41032280
52	TP53_22573176_ChIP-Seq_HFKS_Human	1.40464243
53	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.35688048
54	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.33872222
55	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.30787288
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30781875
57	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30781875
58	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.30756809
59	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.26521884
60	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25620530
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.25005180
62	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.24823282
63	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23408715
64	RNF2_27304074_Chip-Seq_NSC_Mouse	1.23133698
65	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22211272
66	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.22211272
67	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21878803
68	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.21229277
69	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.20667534
70	TCF4_22108803_ChIP-Seq_LS180_Human	1.20624578
71	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.20386194
72	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.20386194
73	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.19981403
74	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.19812720
75	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.19716830
76	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.19687523
77	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.18310301
78	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.17162973
79	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.16608537
80	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.16093794
81	P53_22387025_ChIP-Seq_ESCs_Mouse	1.15162078
82	MYC_18940864_ChIP-ChIP_HL60_Human	1.12301922
83	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.09647964
84	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.08228909
85	NCOR_22424771_ChIP-Seq_293T_Human	1.08065100
86	AR_20517297_ChIP-Seq_VCAP_Human	1.07239859
87	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.07112908
88	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.07042436
89	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.06969042
90	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.06655293
91	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.05784311
92	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.05279261
93	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.03337054
94	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.02821721
95	CDX2_22108803_ChIP-Seq_LS180_Human	1.01410421
96	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.00610688
97	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.99539710
98	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.98993745
99	HOXB7_26014856_ChIP-Seq_BT474_Human	0.97786697
100	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.97189305

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003787_abnormal_imprinting	2.88432687
2	MP0003195_calcinosis	2.88337692
3	MP0008877_abnormal_DNA_methylation	2.80058763
4	MP0000569_abnormal_digit_pigmentation	2.59168792
5	MP0004885_abnormal_endolymph	2.49449626
6	MP0002837_dystrophic_cardiac_calcinosis	2.43560685
7	MP0005551_abnormal_eye_electrophysiolog	2.37024382
8	MP0002735_abnormal_chemical_nociception	2.26881026
9	MP0001968_abnormal_touch/_nociception	2.18982298
10	MP0005646_abnormal_pituitary_gland	2.12126091
11	MP0008875_abnormal_xenobiotic_pharmacok	1.96467266
12	MP0009745_abnormal_behavioral_response	1.92004419
13	MP0002638_abnormal_pupillary_reflex	1.88866346
14	MP0002102_abnormal_ear_morphology	1.87753396
15	MP0002272_abnormal_nervous_system	1.82992032
16	MP0008872_abnormal_physiological_respon	1.82542919
17	MP0009046_muscle_twitch	1.80794962
18	MP0003646_muscle_fatigue	1.79501493
19	MP0004142_abnormal_muscle_tone	1.78377221
20	MP0002736_abnormal_nociception_after	1.77802295
21	MP0000372_irregular_coat_pigmentation	1.77726223
22	MP0006072_abnormal_retinal_apoptosis	1.76126915
23	MP0006292_abnormal_olfactory_placode	1.75124934
24	MP0003880_abnormal_central_pattern	1.71341004
25	MP0002138_abnormal_hepatobiliary_system	1.67095545
26	MP0005645_abnormal_hypothalamus_physiol	1.65632359
27	MP0004147_increased_porphyrin_level	1.63117171
28	MP0008789_abnormal_olfactory_epithelium	1.60545956
29	MP0005253_abnormal_eye_physiology	1.60312217
30	MP0002938_white_spotting	1.57082637
31	MP0006276_abnormal_autonomic_nervous	1.55790775
32	MP0002163_abnormal_gland_morphology	1.54448775
33	MP0003136_yellow_coat_color	1.50495961
34	MP0003011_delayed_dark_adaptation	1.50357510
35	MP0004145_abnormal_muscle_electrophysio	1.49548530
36	MP0002876_abnormal_thyroid_physiology	1.47499056
37	MP0001501_abnormal_sleep_pattern	1.44962321
38	MP0001986_abnormal_taste_sensitivity	1.44858373
39	MP0005379_endocrine/exocrine_gland_phen	1.44790615
40	MP0001485_abnormal_pinna_reflex	1.44061518
41	MP0001486_abnormal_startle_reflex	1.41767190
42	MP0004043_abnormal_pH_regulation	1.41499327
43	MP0002064_seizures	1.39975201
44	MP0002572_abnormal_emotion/affect_behav	1.39745903
45	MP0004924_abnormal_behavior	1.39712577
46	MP0005386_behavior/neurological_phenoty	1.39712577
47	MP0000631_abnormal_neuroendocrine_gland	1.39403884
48	MP0001440_abnormal_grooming_behavior	1.32355076
49	MP0001984_abnormal_olfaction	1.31363062
50	MP0004215_abnormal_myocardial_fiber	1.30445465
51	MP0000427_abnormal_hair_cycle	1.26912430
52	MP0005423_abnormal_somatic_nervous	1.24000323
53	MP0002733_abnormal_thermal_nociception	1.22621612
54	MP0005174_abnormal_tail_pigmentation	1.21503345
55	MP0003635_abnormal_synaptic_transmissio	1.19928316
56	MP0002734_abnormal_mechanical_nocicepti	1.19162880
57	MP0001970_abnormal_pain_threshold	1.19070648
58	MP0002557_abnormal_social/conspecific_i	1.18658766
59	MP0005084_abnormal_gallbladder_morpholo	1.18616421
60	MP0002067_abnormal_sensory_capabilities	1.18053958
61	MP0003121_genomic_imprinting	1.18027223
62	MP0005389_reproductive_system_phenotype	1.14365574
63	MP0004742_abnormal_vestibular_system	1.13009492
64	MP0002063_abnormal_learning/memory/cond	1.12929901
65	MP0005499_abnormal_olfactory_system	1.11645677
66	MP0005394_taste/olfaction_phenotype	1.11645677
67	MP0004133_heterotaxia	1.11446999
68	MP0000778_abnormal_nervous_system	1.10564713
69	MP0002160_abnormal_reproductive_system	1.10328285
70	MP0001905_abnormal_dopamine_level	1.07146782
71	MP0010329_abnormal_lipoprotein_level	1.05934990
72	MP0005195_abnormal_posterior_eye	1.05055252
73	MP0004270_analgesia	1.03568158
74	MP0003283_abnormal_digestive_organ	1.01188310
75	MP0005085_abnormal_gallbladder_physiolo	1.00344714
76	MP0002928_abnormal_bile_duct	0.98171577
77	MP0010386_abnormal_urinary_bladder	0.97589371
78	MP0002229_neurodegeneration	0.95971395
79	MP0002277_abnormal_respiratory_mucosa	0.95630815
80	MP0005167_abnormal_blood-brain_barrier	0.93859823
81	MP0002184_abnormal_innervation	0.93818939
82	MP0008775_abnormal_heart_ventricle	0.93428036
83	MP0002095_abnormal_skin_pigmentation	0.93278239
84	MP0002752_abnormal_somatic_nervous	0.89715924
85	MP0001919_abnormal_reproductive_system	0.88035429
86	MP0000230_abnormal_systemic_arterial	0.87553182
87	MP0002909_abnormal_adrenal_gland	0.87516565
88	MP0005332_abnormal_amino_acid	0.86782813
89	MP0000383_abnormal_hair_follicle	0.86726034
90	MP0009053_abnormal_anal_canal	0.83259324
91	MP0003633_abnormal_nervous_system	0.82993281
92	MP0005187_abnormal_penis_morphology	0.82897361
93	MP0005367_renal/urinary_system_phenotyp	0.82889364
94	MP0000516_abnormal_urinary_system	0.82889364
95	MP0005075_abnormal_melanosome_morpholog	0.82876830
96	MP0009780_abnormal_chondrocyte_physiolo	0.82155351
97	MP0001529_abnormal_vocalization	0.81565772
98	MP0001324_abnormal_eye_pigmentation	0.80283144
99	MP0005410_abnormal_fertilization	0.78737127
100	MP0000026_abnormal_inner_ear	0.78461196

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.31249501
2	Pancreatic fibrosis (HP:0100732)	4.15862654
3	Abnormality of midbrain morphology (HP:0002418)	3.90792642
4	Molar tooth sign on MRI (HP:0002419)	3.90792642
5	True hermaphroditism (HP:0010459)	3.68840425
6	Nephronophthisis (HP:0000090)	3.66545304
7	Congenital stationary night blindness (HP:0007642)	3.56436905
8	Medial flaring of the eyebrow (HP:0010747)	3.36741800
9	Abnormality of the renal cortex (HP:0011035)	3.35717443
10	Type II lissencephaly (HP:0007260)	3.34240871
11	Abnormality of the renal medulla (HP:0100957)	3.21555661
12	Congenital, generalized hypertrichosis (HP:0004540)	3.20090968
13	Abolished electroretinogram (ERG) (HP:0000550)	3.02421355
14	Hyperventilation (HP:0002883)	2.82366209
15	Chronic hepatic failure (HP:0100626)	2.66379739
16	Attenuation of retinal blood vessels (HP:0007843)	2.62163864
17	Abnormal rod and cone electroretinograms (HP:0008323)	2.61237264
18	Gait imbalance (HP:0002141)	2.58855316
19	Cystic liver disease (HP:0006706)	2.57829163
20	Hypothermia (HP:0002045)	2.54556895
21	Polydipsia (HP:0001959)	2.52034389
22	Abnormal drinking behavior (HP:0030082)	2.52034389
23	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.49672112
24	Abnormality of alanine metabolism (HP:0010916)	2.49672112
25	Hyperalaninemia (HP:0003348)	2.49672112
26	Renal cortical cysts (HP:0000803)	2.43312356
27	Inability to walk (HP:0002540)	2.43068052
28	Congenital primary aphakia (HP:0007707)	2.42098901
29	Tubular atrophy (HP:0000092)	2.40697492
30	Cerebellar dysplasia (HP:0007033)	2.36224476
31	Lissencephaly (HP:0001339)	2.34573602
32	Nephrogenic diabetes insipidus (HP:0009806)	2.34282799
33	Febrile seizures (HP:0002373)	2.32809096
34	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.29187246
35	Gaze-evoked nystagmus (HP:0000640)	2.29142225
36	3-Methylglutaconic aciduria (HP:0003535)	2.28758916
37	Stomach cancer (HP:0012126)	2.27234385
38	Large for gestational age (HP:0001520)	2.26656717
39	Progressive inability to walk (HP:0002505)	2.25750576
40	Furrowed tongue (HP:0000221)	2.25613535
41	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.22554920
42	Absent/shortened dynein arms (HP:0200106)	2.22554920
43	Limb dystonia (HP:0002451)	2.22035293
44	Mitochondrial inheritance (HP:0001427)	2.21186688
45	Sclerocornea (HP:0000647)	2.20037752
46	Acute necrotizing encephalopathy (HP:0006965)	2.18169275
47	Decreased circulating renin level (HP:0003351)	2.17798327
48	Hyperlipoproteinemia (HP:0010980)	2.14588684
49	Postaxial foot polydactyly (HP:0001830)	2.14337223
50	Progressive macrocephaly (HP:0004481)	2.13211986
51	Keratoconus (HP:0000563)	2.12555375
52	Increased corneal curvature (HP:0100692)	2.12555375
53	Anencephaly (HP:0002323)	2.11355218
54	Hemiparesis (HP:0001269)	2.10445227
55	Aplasia/hypoplasia of the uterus (HP:0008684)	2.10337568
56	Pendular nystagmus (HP:0012043)	2.09825557
57	Increased CSF lactate (HP:0002490)	2.09376386
58	Progressive cerebellar ataxia (HP:0002073)	2.08584528
59	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.07635073
60	Concave nail (HP:0001598)	2.07493152
61	Broad-based gait (HP:0002136)	2.07409168
62	Methylmalonic acidemia (HP:0002912)	2.07095229
63	Congenital hepatic fibrosis (HP:0002612)	2.06690374
64	Decreased central vision (HP:0007663)	2.06043240
65	Retinal dysplasia (HP:0007973)	2.05620046
66	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.05424101
67	Genital tract atresia (HP:0001827)	2.05142861
68	Polyuria (HP:0000103)	2.04310226
69	Acute encephalopathy (HP:0006846)	2.04093026
70	Fair hair (HP:0002286)	2.02342239
71	Congenital sensorineural hearing impairment (HP:0008527)	2.01664543
72	Bile duct proliferation (HP:0001408)	2.00907612
73	Abnormal biliary tract physiology (HP:0012439)	2.00907612
74	Polyphagia (HP:0002591)	2.00497779
75	Male pseudohermaphroditism (HP:0000037)	1.99519493
76	Hypoplasia of the uterus (HP:0000013)	1.98918322
77	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.96335609
78	Pachygyria (HP:0001302)	1.94786804
79	Vaginal atresia (HP:0000148)	1.93813524
80	Short tibia (HP:0005736)	1.92908152
81	Thyroiditis (HP:0100646)	1.87023743
82	Hyperglycinemia (HP:0002154)	1.85610147
83	Postaxial hand polydactyly (HP:0001162)	1.85036503
84	Ketoacidosis (HP:0001993)	1.84065350
85	Occipital encephalocele (HP:0002085)	1.81575700
86	Hepatic necrosis (HP:0002605)	1.80491388
87	Severe muscular hypotonia (HP:0006829)	1.79929113
88	Agitation (HP:0000713)	1.78711511
89	Methylmalonic aciduria (HP:0012120)	1.78366293
90	Ketosis (HP:0001946)	1.77109451
91	Abnormal mitochondria in muscle tissue (HP:0008316)	1.76546728
92	Abnormal respiratory epithelium morphology (HP:0012253)	1.76525692
93	Abnormal respiratory motile cilium morphology (HP:0005938)	1.76525692
94	Lipid accumulation in hepatocytes (HP:0006561)	1.75539362
95	Hepatocellular necrosis (HP:0001404)	1.74899400
96	Thyroid-stimulating hormone excess (HP:0002925)	1.73779887
97	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.72005163
98	Small hand (HP:0200055)	1.71412067
99	Abnormality of the pons (HP:0007361)	1.71055347
100	Bony spicule pigmentary retinopathy (HP:0007737)	1.70655069

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.22684878
2	BMPR1B	4.81861602
3	ACVR1B	3.67984442
4	ADRBK2	2.67223814
5	TLK1	2.60700914
6	GRK1	2.48152457
7	PINK1	2.43519022
8	MAP4K2	2.42582265
9	WNK3	2.25408918
10	TAOK3	2.10531119
11	ZAK	2.03147470
12	NUAK1	2.02461297
13	NTRK2	2.00670388
14	CASK	1.94761429
15	TGFBR1	1.81488741
16	TNIK	1.68986679
17	INSRR	1.61117917
18	MAPK13	1.54795280
19	PNCK	1.54546406
20	PHKG2	1.52452581
21	PHKG1	1.52452581
22	WNK4	1.52112897
23	MAP3K4	1.42283299
24	NTRK3	1.38099573
25	DAPK2	1.37551689
26	MARK1	1.35308318
27	TXK	1.32221972
28	CAMKK2	1.30676694
29	STK39	1.26211399
30	RIPK1	1.21874424
31	TIE1	1.20680335
32	OXSR1	1.18273529
33	BRSK2	1.16900538
34	PAK3	1.16266652
35	TRIM28	1.04719026
36	ADRBK1	1.03751413
37	ERBB3	0.95914305
38	PRKCG	0.94856553
39	MST4	0.90618770
40	DYRK2	0.90179106
41	AKT3	0.89373123
42	OBSCN	0.86321917
43	CSNK1G2	0.85367473
44	MKNK2	0.85201730
45	PRKCE	0.82475172
46	CSNK1G1	0.82287711
47	PLK2	0.80657997
48	CSNK1G3	0.76808252
49	FGFR2	0.73934826
50	PTK2B	0.72998336
51	STK38L	0.72595652
52	CDK8	0.68024136
53	MAP2K7	0.67540232
54	MAP2K6	0.67329478
55	BCKDK	0.66001647
56	EIF2AK3	0.64201892
57	VRK1	0.62337943
58	CAMK2A	0.61678389
59	TEC	0.60548516
60	FLT3	0.58299304
61	KIT	0.57213045
62	BCR	0.56185790
63	SGK2	0.53729497
64	CSNK1A1L	0.50656402
65	WEE1	0.49477363
66	IKBKB	0.44854499
67	PRKACA	0.44629057
68	PIK3CG	0.44559884
69	EPHA4	0.43849629
70	MAPKAPK3	0.43725853
71	SIK2	0.43326283
72	CDK3	0.43310361
73	IRAK1	0.42207363
74	PIK3CA	0.39968119
75	CSNK1A1	0.39830514
76	PRKCQ	0.39828042
77	STK11	0.39711941
78	CAMK1	0.38753275
79	PRKG1	0.37722123
80	MAP3K12	0.34417132
81	MAPK15	0.33180450
82	CHUK	0.33057718
83	MAP2K1	0.32990960
84	MARK3	0.32779951
85	PRKCA	0.32582623
86	CSNK1D	0.32081735
87	SGK494	0.31904119
88	SGK223	0.31904119
89	RPS6KA5	0.31853916
90	PKN1	0.31617746
91	MUSK	0.30594665
92	DYRK3	0.30385480
93	GRK7	0.30226311
94	DYRK1A	0.29274229
95	PRKCI	0.29169379
96	GRK5	0.28899405
97	PRKAA1	0.28493459
98	PLK3	0.28130188
99	IGF1R	0.28044691
100	PRKCZ	0.27564446

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	3.19629947
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.72015201
3	Phototransduction_Homo sapiens_hsa04744	2.54149487
4	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.40279781
5	Protein export_Homo sapiens_hsa03060	2.38697070
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.34670393
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.25957956
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.20800772
9	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.18987141
10	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.18835675
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.14161926
12	Nicotine addiction_Homo sapiens_hsa05033	2.11077134
13	Butanoate metabolism_Homo sapiens_hsa00650	2.10662754
14	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.07086279
15	Tryptophan metabolism_Homo sapiens_hsa00380	2.01972296
16	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.96423148
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.91680760
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.79766395
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.70332107
20	Parkinsons disease_Homo sapiens_hsa05012	1.67078942
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.42548560
22	Morphine addiction_Homo sapiens_hsa05032	1.39181985
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.38655265
24	Regulation of autophagy_Homo sapiens_hsa04140	1.36138218
25	Propanoate metabolism_Homo sapiens_hsa00640	1.34117788
26	Basal transcription factors_Homo sapiens_hsa03022	1.32473028
27	Chemical carcinogenesis_Homo sapiens_hsa05204	1.31143835
28	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.29912554
29	Insulin secretion_Homo sapiens_hsa04911	1.29546623
30	Cardiac muscle contraction_Homo sapiens_hsa04260	1.27465018
31	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.25334733
32	ABC transporters_Homo sapiens_hsa02010	1.22882103
33	Peroxisome_Homo sapiens_hsa04146	1.21943373
34	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.21636099
35	Taste transduction_Homo sapiens_hsa04742	1.21288222
36	Olfactory transduction_Homo sapiens_hsa04740	1.20561336
37	Alzheimers disease_Homo sapiens_hsa05010	1.18652320
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.17946572
39	Retinol metabolism_Homo sapiens_hsa00830	1.15487794
40	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.13920142
41	RNA polymerase_Homo sapiens_hsa03020	1.10306108
42	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.09965686
43	Circadian entrainment_Homo sapiens_hsa04713	1.08761761
44	Homologous recombination_Homo sapiens_hsa03440	1.06312902
45	Serotonergic synapse_Homo sapiens_hsa04726	1.04368098
46	RNA degradation_Homo sapiens_hsa03018	1.03944932
47	Circadian rhythm_Homo sapiens_hsa04710	1.02379305
48	Glutamatergic synapse_Homo sapiens_hsa04724	1.01937217
49	GABAergic synapse_Homo sapiens_hsa04727	1.00565219
50	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97732389
51	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.96913479
52	Huntingtons disease_Homo sapiens_hsa05016	0.96855865
53	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.93050538
54	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.92329580
55	Fanconi anemia pathway_Homo sapiens_hsa03460	0.89905089
56	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.89854261
57	Sulfur metabolism_Homo sapiens_hsa00920	0.87788883
58	Collecting duct acid secretion_Homo sapiens_hsa04966	0.87426792
59	Salivary secretion_Homo sapiens_hsa04970	0.85092782
60	Histidine metabolism_Homo sapiens_hsa00340	0.83852205
61	One carbon pool by folate_Homo sapiens_hsa00670	0.81819664
62	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.80115644
63	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.72873355
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.72578763
65	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.71451121
66	Fatty acid degradation_Homo sapiens_hsa00071	0.69202203
67	Dopaminergic synapse_Homo sapiens_hsa04728	0.67817320
68	Amphetamine addiction_Homo sapiens_hsa05031	0.67770064
69	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.66487597
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66456170
71	Type I diabetes mellitus_Homo sapiens_hsa04940	0.65686765
72	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.63473718
73	Asthma_Homo sapiens_hsa05310	0.61829946
74	Calcium signaling pathway_Homo sapiens_hsa04020	0.60306666
75	Cocaine addiction_Homo sapiens_hsa05030	0.58831322
76	Metabolic pathways_Homo sapiens_hsa01100	0.57530225
77	Purine metabolism_Homo sapiens_hsa00230	0.57056286
78	Glycerolipid metabolism_Homo sapiens_hsa00561	0.55887072
79	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.55543056
80	Primary immunodeficiency_Homo sapiens_hsa05340	0.55403081
81	Renin secretion_Homo sapiens_hsa04924	0.54337345
82	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.54051284
83	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.53656132
84	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.51524177
85	Fat digestion and absorption_Homo sapiens_hsa04975	0.50435866
86	Sphingolipid metabolism_Homo sapiens_hsa00600	0.47460510
87	Long-term depression_Homo sapiens_hsa04730	0.46437885
88	Mineral absorption_Homo sapiens_hsa04978	0.44409188
89	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.43365004
90	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.42120066
91	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.41809172
92	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.41594178
93	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.40088572
94	Fatty acid metabolism_Homo sapiens_hsa01212	0.38609454
95	Gastric acid secretion_Homo sapiens_hsa04971	0.36894492
96	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.36623703
97	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.36528187
98	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.35335469
99	Fatty acid elongation_Homo sapiens_hsa00062	0.35075066
100	Rheumatoid arthritis_Homo sapiens_hsa05323	0.34408577

ETFBKMT

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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