ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	synaptic vesicle maturation (GO:0016188)	4.57335182
2	cellular ketone body metabolic process (GO:0046950)	4.22026210
3	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.92185375
4	dendritic spine morphogenesis (GO:0060997)	3.89917840
5	axoneme assembly (GO:0035082)	3.79862407
6	glutamate secretion (GO:0014047)	3.74883129
7	ketone body metabolic process (GO:1902224)	3.69353283
8	transmission of nerve impulse (GO:0019226)	3.66466157
9	insulin secretion (GO:0030073)	3.63273036
10	regulation of respiratory system process (GO:0044065)	3.59767690
11	protein localization to synapse (GO:0035418)	3.57459721
12	positive regulation of oligodendrocyte differentiation (GO:0048714)	3.52357120
13	pyrimidine nucleobase catabolic process (GO:0006208)	3.52349734
14	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	3.50982578
15	protein localization to cilium (GO:0061512)	3.47563266
16	glycosphingolipid biosynthetic process (GO:0006688)	3.45689168
17	epithelial cilium movement (GO:0003351)	3.40134160
18	synaptic vesicle exocytosis (GO:0016079)	3.39588497
19	platelet dense granule organization (GO:0060155)	3.38992155
20	intraciliary transport (GO:0042073)	3.33932011
21	neurotransmitter secretion (GO:0007269)	3.30263236
22	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	3.27825817
23	behavioral response to nicotine (GO:0035095)	3.23773859
24	protein polyglutamylation (GO:0018095)	3.19695238
25	nucleobase catabolic process (GO:0046113)	3.18325281
26	ribonucleoprotein complex disassembly (GO:0032988)	3.17642202
27	signal peptide processing (GO:0006465)	3.15123283
28	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	3.10578135
29	cilium movement (GO:0003341)	3.09767816
30	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.07566985
31	spinal cord association neuron differentiation (GO:0021527)	3.07001988
32	inositol phosphate catabolic process (GO:0071545)	3.06227587
33	regulation of cilium movement (GO:0003352)	3.05925434
34	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.05315349
35	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.02303470
36	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	3.00917298
37	neuron cell-cell adhesion (GO:0007158)	2.97820739
38	neuron fate determination (GO:0048664)	2.96465521
39	peptide hormone secretion (GO:0030072)	2.94785339
40	regulation of synapse structural plasticity (GO:0051823)	2.91028603
41	brain morphogenesis (GO:0048854)	2.89699912
42	calcium ion-dependent exocytosis (GO:0017156)	2.89402166
43	establishment of mitochondrion localization (GO:0051654)	2.88890860
44	glycerophospholipid catabolic process (GO:0046475)	2.88832370
45	peptide secretion (GO:0002790)	2.85667002
46	regulation of respiratory gaseous exchange (GO:0043576)	2.84450052
47	acrosome reaction (GO:0007340)	2.82574123
48	regulation of feeding behavior (GO:0060259)	2.82186909
49	synapse assembly (GO:0007416)	2.80740143
50	organelle disassembly (GO:1903008)	2.80413052
51	reflex (GO:0060004)	2.80206463
52	inositol phosphate dephosphorylation (GO:0046855)	2.79932014
53	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.79932014
54	startle response (GO:0001964)	2.79863441
55	axonal fasciculation (GO:0007413)	2.77533722
56	positive regulation of synapse assembly (GO:0051965)	2.76885362
57	regulation of acrosome reaction (GO:0060046)	2.76049907
58	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	2.72871626
59	postsynaptic membrane organization (GO:0001941)	2.72506054
60	opioid receptor signaling pathway (GO:0038003)	2.72130301
61	cardiac left ventricle morphogenesis (GO:0003214)	2.72031772
62	cilium or flagellum-dependent cell motility (GO:0001539)	2.72000811
63	nonmotile primary cilium assembly (GO:0035058)	2.69704295
64	neuron-neuron synaptic transmission (GO:0007270)	2.69626311
65	regulation of neurotransmitter levels (GO:0001505)	2.68553723
66	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.65741207
67	neurotransmitter catabolic process (GO:0042135)	2.65675169
68	regulation of synaptic vesicle exocytosis (GO:2000300)	2.65483221
69	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.64289162
70	positive regulation of insulin secretion (GO:0032024)	2.63989529
71	synaptic transmission, glutamatergic (GO:0035249)	2.63708356
72	regulation of microtubule-based movement (GO:0060632)	2.62616943
73	glucosamine-containing compound catabolic process (GO:1901072)	2.62351922
74	signal release (GO:0023061)	2.61603534
75	locomotory exploration behavior (GO:0035641)	2.61511871
76	neuron recognition (GO:0008038)	2.60989047
77	retinal ganglion cell axon guidance (GO:0031290)	2.60894115
78	regulation of vesicle fusion (GO:0031338)	2.60572667
79	microtubule severing (GO:0051013)	2.59179923
80	tryptophan catabolic process (GO:0006569)	2.59126518
81	indole-containing compound catabolic process (GO:0042436)	2.59126518
82	indolalkylamine catabolic process (GO:0046218)	2.59126518
83	membrane hyperpolarization (GO:0060081)	2.58631830
84	auditory receptor cell differentiation (GO:0042491)	2.58571264
85	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.57673298
86	DNA damage response, detection of DNA damage (GO:0042769)	2.56754236
87	NAD biosynthetic process (GO:0009435)	2.56528207
88	protein complex biogenesis (GO:0070271)	2.55994319
89	mitochondrial calcium ion homeostasis (GO:0051560)	2.51420857
90	cilium morphogenesis (GO:0060271)	2.51146045
91	neuromuscular synaptic transmission (GO:0007274)	2.50984210
92	positive regulation of peptide hormone secretion (GO:0090277)	2.50202515
93	proline transport (GO:0015824)	2.49847717
94	auditory behavior (GO:0031223)	2.48447148
95	neuronal action potential propagation (GO:0019227)	2.47301501
96	dendritic spine organization (GO:0097061)	2.46804330
97	neurotransmitter transport (GO:0006836)	2.46598251
98	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.46267656
99	sperm motility (GO:0030317)	2.45848326
100	positive regulation of peptide secretion (GO:0002793)	2.45552945

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.52847073
2	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	3.70441070
3	ZNF274_21170338_ChIP-Seq_K562_Hela	2.74075107
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.70590324
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.63171046
6	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.48916412
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.45238171
8	REST_21632747_ChIP-Seq_MESCs_Mouse	2.41184273
9	IKZF1_21737484_ChIP-ChIP_HCT116_Human	2.35359200
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.27022151
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.19662151
12	REST_18959480_ChIP-ChIP_MESCs_Mouse	2.14893124
13	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.11152192
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.01841305
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.01363043
16	TAF15_26573619_Chip-Seq_HEK293_Human	1.99376556
17	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.85780613
18	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.85252041
19	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.78850273
20	RNF2_27304074_Chip-Seq_NSC_Mouse	1.78224690
21	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.77858608
22	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.76936202
23	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.76735780
24	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.76673434
25	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.73874006
26	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.71308087
27	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.66271561
28	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.60870720
29	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.57672853
30	P300_19829295_ChIP-Seq_ESCs_Human	1.53470673
31	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.50090188
32	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.42538595
33	VDR_22108803_ChIP-Seq_LS180_Human	1.41464891
34	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.41281522
35	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.40852431
36	FUS_26573619_Chip-Seq_HEK293_Human	1.39986436
37	TP53_22573176_ChIP-Seq_HFKS_Human	1.38622321
38	* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.38425434
39	SMAD4_21799915_ChIP-Seq_A2780_Human	1.36282984
40	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.35060341
41	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.31864211
42	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.31018487
43	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.29510814
44	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.25395597
45	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.24496586
46	DROSHA_22980978_ChIP-Seq_HELA_Human	1.22722874
47	AR_25329375_ChIP-Seq_VCAP_Human	1.22416862
48	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.22412198
49	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.21168092
50	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.19270239
51	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.18956257
52	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.17950763
53	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.16060042
54	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.15648946
55	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.15648946
56	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.15040454
57	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.15014474
58	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.11709312
59	CBP_20019798_ChIP-Seq_JUKART_Human	1.11709312
60	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.11701003
61	TCF4_23295773_ChIP-Seq_U87_Human	1.10764373
62	STAT3_23295773_ChIP-Seq_U87_Human	1.10670067
63	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.09438064
64	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.09350381
65	ER_23166858_ChIP-Seq_MCF-7_Human	1.08274052
66	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.07169789
67	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.06726445
68	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.06265657
69	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.04741341
70	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.03852002
71	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.01362207
72	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.01048743
73	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.00920243
74	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.00560294
75	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.00075741
76	HTT_18923047_ChIP-ChIP_STHdh_Human	0.98497051
77	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.98383043
78	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.97888034
79	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.97669603
80	JUN_21703547_ChIP-Seq_K562_Human	0.97555334
81	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.94716263
82	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.94716263
83	NCOR_22424771_ChIP-Seq_293T_Human	0.94325530
84	RUNX2_22187159_ChIP-Seq_PCA_Human	0.94323062
85	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.93821350
86	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.93755285
87	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.93741706
88	SALL1_21062744_ChIP-ChIP_HESCs_Human	0.92925701
89	TCF4_22108803_ChIP-Seq_LS180_Human	0.92361993
90	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.91745607
91	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.91081479
92	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.90548191
93	BCAT_22108803_ChIP-Seq_LS180_Human	0.90411259
94	IRF1_19129219_ChIP-ChIP_H3396_Human	0.89366057
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.88682392
96	AR_21572438_ChIP-Seq_LNCaP_Human	0.88157541
97	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	0.87620253
98	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.86504528
99	RARB_27405468_Chip-Seq_BRAIN_Mouse	0.85916730
100	GABP_17652178_ChIP-ChIP_JURKAT_Human	0.85240547

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002909_abnormal_adrenal_gland	3.34546143
2	MP0002102_abnormal_ear_morphology	3.29047697
3	MP0003122_maternal_imprinting	3.09114354
4	MP0002837_dystrophic_cardiac_calcinosis	2.99313257
5	MP0003787_abnormal_imprinting	2.84411123
6	MP0003880_abnormal_central_pattern	2.68544197
7	MP0001968_abnormal_touch/_nociception	2.51502324
8	MP0006276_abnormal_autonomic_nervous	2.48807500
9	MP0005645_abnormal_hypothalamus_physiol	2.34608984
10	MP0004147_increased_porphyrin_level	2.29273556
11	MP0009046_muscle_twitch	2.28577248
12	MP0002653_abnormal_ependyma_morphology	2.20087167
13	MP0003121_genomic_imprinting	2.14701293
14	MP0002272_abnormal_nervous_system	2.11528633
15	MP0003635_abnormal_synaptic_transmissio	2.09654574
16	MP0004270_analgesia	1.97946070
17	MP0004859_abnormal_synaptic_plasticity	1.97046556
18	MP0009745_abnormal_behavioral_response	1.92380208
19	MP0002735_abnormal_chemical_nociception	1.92379650
20	MP0002734_abnormal_mechanical_nocicepti	1.89830088
21	MP0001486_abnormal_startle_reflex	1.89277430
22	MP0002822_catalepsy	1.89181584
23	MP0001970_abnormal_pain_threshold	1.87015581
24	MP0008877_abnormal_DNA_methylation	1.86156267
25	MP0004142_abnormal_muscle_tone	1.86018844
26	MP0005551_abnormal_eye_electrophysiolog	1.85937267
27	MP0002733_abnormal_thermal_nociception	1.79724881
28	MP0002064_seizures	1.79025453
29	MP0002736_abnormal_nociception_after	1.78833341
30	MP0001501_abnormal_sleep_pattern	1.74533057
31	MP0002557_abnormal_social/conspecific_i	1.72515196
32	MP0006292_abnormal_olfactory_placode	1.72417337
33	MP0002572_abnormal_emotion/affect_behav	1.71739744
34	MP0006072_abnormal_retinal_apoptosis	1.66357877
35	MP0000778_abnormal_nervous_system	1.66121024
36	MP0002063_abnormal_learning/memory/cond	1.65221975
37	MP0005423_abnormal_somatic_nervous	1.61705640
38	MP0002638_abnormal_pupillary_reflex	1.56230670
39	MP0001984_abnormal_olfaction	1.55952192
40	MP0005084_abnormal_gallbladder_morpholo	1.54087424
41	MP0002254_reproductive_system_inflammat	1.52606086
42	MP0001905_abnormal_dopamine_level	1.50561416
43	MP0002184_abnormal_innervation	1.42485444
44	MP0005394_taste/olfaction_phenotype	1.42362132
45	MP0005499_abnormal_olfactory_system	1.42362132
46	MP0002067_abnormal_sensory_capabilities	1.41838604
47	MP0005379_endocrine/exocrine_gland_phen	1.41798857
48	MP0009780_abnormal_chondrocyte_physiolo	1.40420276
49	MP0002139_abnormal_hepatobiliary_system	1.39827634
50	MP0004133_heterotaxia	1.35510672
51	MP0002163_abnormal_gland_morphology	1.33186790
52	MP0003195_calcinosis	1.31973108
53	MP0000955_abnormal_spinal_cord	1.31040295
54	MP0004742_abnormal_vestibular_system	1.26271482
55	MP0005646_abnormal_pituitary_gland	1.26227169
56	MP0000631_abnormal_neuroendocrine_gland	1.24952337
57	MP0005248_abnormal_Harderian_gland	1.24368297
58	MP0005410_abnormal_fertilization	1.18355890
59	MP0008872_abnormal_physiological_respon	1.17372264
60	MP0003646_muscle_fatigue	1.15844068
61	MP0002882_abnormal_neuron_morphology	1.15311473
62	MP0000566_synostosis	1.15108657
63	MP0002928_abnormal_bile_duct	1.13595207
64	MP0002693_abnormal_pancreas_physiology	1.13309658
65	MP0004885_abnormal_endolymph	1.12940983
66	MP0005253_abnormal_eye_physiology	1.11652528
67	MP0004811_abnormal_neuron_physiology	1.11482679
68	MP0008789_abnormal_olfactory_epithelium	1.11397185
69	MP0000427_abnormal_hair_cycle	1.11283373
70	MP0005377_hearing/vestibular/ear_phenot	1.11003076
71	MP0003878_abnormal_ear_physiology	1.11003076
72	MP0001529_abnormal_vocalization	1.09558211
73	MP0002751_abnormal_autonomic_nervous	1.07276508
74	MP0001502_abnormal_circadian_rhythm	1.04399508
75	MP0003123_paternal_imprinting	1.03471080
76	MP0002752_abnormal_somatic_nervous	1.03279472
77	MP0002069_abnormal_eating/drinking_beha	1.02759454
78	MP0005386_behavior/neurological_phenoty	1.01294834
79	MP0004924_abnormal_behavior	1.01294834
80	MP0001986_abnormal_taste_sensitivity	1.01104535
81	MP0002876_abnormal_thyroid_physiology	0.99995718
82	MP0000013_abnormal_adipose_tissue	0.99799251
83	MP0005448_abnormal_energy_balance	0.97396625
84	MP0002066_abnormal_motor_capabilities/c	0.96776091
85	MP0001963_abnormal_hearing_physiology	0.94955354
86	MP0001944_abnormal_pancreas_morphology	0.91615684
87	MP0010386_abnormal_urinary_bladder	0.89359311
88	MP0002229_neurodegeneration	0.89352255
89	MP0005167_abnormal_blood-brain_barrier	0.87370287
90	MP0008995_early_reproductive_senescence	0.86551918
91	MP0001485_abnormal_pinna_reflex	0.86546740
92	MP0001188_hyperpigmentation	0.85756837
93	MP0005332_abnormal_amino_acid	0.84957996
94	MP0004145_abnormal_muscle_electrophysio	0.84422972
95	MP0001440_abnormal_grooming_behavior	0.83120823
96	MP0001919_abnormal_reproductive_system	0.82302475
97	MP0000026_abnormal_inner_ear	0.80874010
98	MP0002938_white_spotting	0.80323419
99	MP0000639_abnormal_adrenal_gland	0.76797925
100	MP0002078_abnormal_glucose_homeostasis	0.76552019

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Myokymia (HP:0002411)	4.05906575
2	Methylmalonic acidemia (HP:0002912)	3.53818897
3	Focal motor seizures (HP:0011153)	3.51125601
4	Polyphagia (HP:0002591)	3.45032219
5	Methylmalonic aciduria (HP:0012120)	3.41963785
6	Pancreatic cysts (HP:0001737)	2.94280836
7	Hypothermia (HP:0002045)	2.89961921
8	Abnormality of midbrain morphology (HP:0002418)	2.89460519
9	Molar tooth sign on MRI (HP:0002419)	2.89460519
10	Medial flaring of the eyebrow (HP:0010747)	2.86174142
11	Pancreatic fibrosis (HP:0100732)	2.81498486
12	True hermaphroditism (HP:0010459)	2.75816927
13	Progressive cerebellar ataxia (HP:0002073)	2.74126899
14	Ketoacidosis (HP:0001993)	2.71579941
15	Polydipsia (HP:0001959)	2.68549256
16	Abnormal drinking behavior (HP:0030082)	2.68549256
17	Lipid accumulation in hepatocytes (HP:0006561)	2.67894955
18	Dialeptic seizures (HP:0011146)	2.66268518
19	Increased hepatocellular lipid droplets (HP:0006565)	2.63801446
20	Retinal dysplasia (HP:0007973)	2.53104727
21	Abnormality of the labia minora (HP:0012880)	2.50411109
22	Abnormal hair whorl (HP:0010721)	2.46600275
23	Congenital stationary night blindness (HP:0007642)	2.43987422
24	Mitochondrial inheritance (HP:0001427)	2.43443208
25	Oligodactyly (hands) (HP:0001180)	2.43427300
26	Neonatal respiratory distress (HP:0002643)	2.40792685
27	Abnormal eating behavior (HP:0100738)	2.40052613
28	Gait imbalance (HP:0002141)	2.37864397
29	Agitation (HP:0000713)	2.37558992
30	Focal seizures (HP:0007359)	2.36970135
31	Nephronophthisis (HP:0000090)	2.35630138
32	Severe visual impairment (HP:0001141)	2.34381664
33	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.34079127
34	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.34079127
35	Hypsarrhythmia (HP:0002521)	2.31504832
36	Epileptiform EEG discharges (HP:0011182)	2.31001216
37	EEG with generalized epileptiform discharges (HP:0011198)	2.29741713
38	Amblyopia (HP:0000646)	2.29699808
39	Absence seizures (HP:0002121)	2.29353919
40	Hepatocellular necrosis (HP:0001404)	2.27810988
41	Polyuria (HP:0000103)	2.22367334
42	Muscular hypotonia of the trunk (HP:0008936)	2.21714089
43	Abnormal pancreas size (HP:0012094)	2.21648843
44	Abnormality of vitamin B metabolism (HP:0004340)	2.21400646
45	Tubular atrophy (HP:0000092)	2.19399881
46	Hepatic necrosis (HP:0002605)	2.19204739
47	Abnormality of macular pigmentation (HP:0008002)	2.17940208
48	Type II lissencephaly (HP:0007260)	2.17454923
49	Hemiparesis (HP:0001269)	2.16902781
50	Febrile seizures (HP:0002373)	2.15905992
51	Cystic liver disease (HP:0006706)	2.15639007
52	Colon cancer (HP:0003003)	2.15423120
53	Oligodactyly (HP:0012165)	2.15204760
54	Intention tremor (HP:0002080)	2.14720508
55	Aplasia/hypoplasia of the uterus (HP:0008684)	2.14564431
56	Spastic gait (HP:0002064)	2.14484989
57	Broad-based gait (HP:0002136)	2.14140018
58	Lissencephaly (HP:0001339)	2.12293916
59	Congenital primary aphakia (HP:0007707)	2.11799906
60	Action tremor (HP:0002345)	2.11014225
61	Acute necrotizing encephalopathy (HP:0006965)	2.10526010
62	Hyperventilation (HP:0002883)	2.10457359
63	Renal Fanconi syndrome (HP:0001994)	2.09554476
64	Drooling (HP:0002307)	2.07596713
65	Status epilepticus (HP:0002133)	2.07491669
66	Atonic seizures (HP:0010819)	2.06586406
67	Nephrogenic diabetes insipidus (HP:0009806)	2.06187868
68	CNS hypomyelination (HP:0003429)	2.05537748
69	Pendular nystagmus (HP:0012043)	2.04814356
70	Ankle clonus (HP:0011448)	2.04143162
71	Generalized tonic-clonic seizures (HP:0002069)	2.03522737
72	Limb dystonia (HP:0002451)	2.02380805
73	Abnormality of the renal medulla (HP:0100957)	2.02297730
74	Hypomagnesemia (HP:0002917)	2.01685336
75	Abnormality of urine glucose concentration (HP:0011016)	2.01274334
76	Glycosuria (HP:0003076)	2.01274334
77	Increased CSF lactate (HP:0002490)	1.95508582
78	Ketosis (HP:0001946)	1.94905703
79	Abnormal mitochondria in muscle tissue (HP:0008316)	1.94508056
80	Increased intramyocellular lipid droplets (HP:0012240)	1.93108617
81	Failure to thrive in infancy (HP:0001531)	1.93107711
82	Cerebellar dysplasia (HP:0007033)	1.92167823
83	Abnormal albumin level (HP:0012116)	1.92159504
84	Hypoalbuminemia (HP:0003073)	1.92159504
85	Excessive salivation (HP:0003781)	1.91803814
86	Hyperinsulinemic hypoglycemia (HP:0000825)	1.89737344
87	Abnormal ciliary motility (HP:0012262)	1.87976033
88	Abnormal respiratory motile cilium morphology (HP:0005938)	1.86937135
89	Abnormal respiratory epithelium morphology (HP:0012253)	1.86937135
90	Exertional dyspnea (HP:0002875)	1.86229348
91	Abnormality of the renal cortex (HP:0011035)	1.85339423
92	Large for gestational age (HP:0001520)	1.83916347
93	Congenital malformation of the right heart (HP:0011723)	1.81644119
94	Double outlet right ventricle (HP:0001719)	1.81644119
95	Abnormal urine output (HP:0012590)	1.81409466
96	Sclerocornea (HP:0000647)	1.80456169
97	Pachygyria (HP:0001302)	1.79727663
98	Genital tract atresia (HP:0001827)	1.78916976
99	Abnormality of the corticospinal tract (HP:0002492)	1.78730642
100	Papilledema (HP:0001085)	1.78554683

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MARK1	3.53203746
2	MAP4K2	3.25809267
3	MAP3K4	2.70775748
4	PINK1	2.57013238
5	WNK3	2.22152761
6	DAPK2	2.19486502
7	MAP3K9	2.18382831
8	STK16	2.12144430
9	MAP3K12	2.07193374
10	FRK	2.04350690
11	GRK1	1.85016389
12	CASK	1.82827640
13	TRIM28	1.82572017
14	SIK2	1.80658654
15	MAPK13	1.78021470
16	MINK1	1.68156000
17	PAK3	1.61945465
18	WNK4	1.56395909
19	CSNK1G3	1.55799534
20	ADRBK2	1.55517687
21	CSNK1G2	1.53720030
22	NTRK2	1.46512072
23	OXSR1	1.46218281
24	NTRK3	1.46017574
25	MAP2K7	1.44334036
26	GRK7	1.41962659
27	BCR	1.41001390
28	PRKCG	1.38689897
29	PLK2	1.37889718
30	PHKG1	1.37789257
31	PHKG2	1.37789257
32	UHMK1	1.34083991
33	MAP3K11	1.32442249
34	CSNK1G1	1.28976881
35	MAP2K4	1.28715183
36	TXK	1.28276010
37	DYRK2	1.28168232
38	STK39	1.22736763
39	CSNK1A1L	1.21637968
40	TNK2	1.20701984
41	PRKCE	1.14559397
42	PASK	1.13676390
43	TYRO3	1.07871162
44	SIK3	1.06883448
45	CAMKK2	1.06369429
46	FGFR2	1.05974023
47	CAMKK1	1.01939290
48	DYRK3	0.98600738
49	EPHA4	0.95895345
50	GRK5	0.88056619
51	DYRK1B	0.87897522
52	BCKDK	0.87690534
53	LATS1	0.85810045
54	BMPR1B	0.85650523
55	ZAK	0.85431487
56	DYRK1A	0.85027861
57	INSRR	0.83670540
58	MAP2K6	0.80348279
59	PAK6	0.79589460
60	STK38L	0.77854668
61	KSR1	0.74701166
62	ADRBK1	0.73108535
63	EPHB2	0.71979080
64	CAMK2A	0.71905908
65	CDK19	0.65894487
66	CDK5	0.62750780
67	PRKG1	0.60568773
68	PRKACA	0.60520407
69	TAOK3	0.59973734
70	NUAK1	0.59947596
71	CAMK2D	0.58263415
72	DAPK1	0.58204178
73	CAMK1	0.57579187
74	ITK	0.56381048
75	STK38	0.54414875
76	ARAF	0.52482183
77	MAP3K5	0.50876894
78	STK11	0.49932149
79	CAMK2B	0.48288509
80	MARK2	0.46795277
81	IRAK4	0.46734268
82	CDK14	0.46645955
83	CSNK1A1	0.46604643
84	PRKAA1	0.45683830
85	SGK223	0.44061511
86	SGK494	0.44061511
87	PRKCA	0.43859807
88	TAOK1	0.43104196
89	PRKCZ	0.42904141
90	MAP4K1	0.40423344
91	FYN	0.39486210
92	IKBKE	0.38746943
93	ERBB2	0.37811194
94	CDK18	0.37596751
95	CSNK1D	0.37319562
96	CDK11A	0.37076461
97	MUSK	0.35418891
98	TIE1	0.35054136
99	CDK15	0.34313665
100	PRKCB	0.33431256

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.66262716
2	Nicotine addiction_Homo sapiens_hsa05033	3.28958245
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.88301650
4	Protein export_Homo sapiens_hsa03060	2.79800312
5	Butanoate metabolism_Homo sapiens_hsa00650	2.65232741
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.51350167
7	Insulin secretion_Homo sapiens_hsa04911	2.48034986
8	GABAergic synapse_Homo sapiens_hsa04727	2.38274778
9	Parkinsons disease_Homo sapiens_hsa05012	2.34144930
10	Morphine addiction_Homo sapiens_hsa05032	2.32726913
11	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.25364651
12	Phototransduction_Homo sapiens_hsa04744	2.10899539
13	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.06903998
14	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.05750037
15	Collecting duct acid secretion_Homo sapiens_hsa04966	1.92552830
16	Circadian entrainment_Homo sapiens_hsa04713	1.92463151
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.78303577
18	Glutamatergic synapse_Homo sapiens_hsa04724	1.72409833
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.72217188
20	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.65845427
21	Propanoate metabolism_Homo sapiens_hsa00640	1.63605065
22	Cardiac muscle contraction_Homo sapiens_hsa04260	1.62489854
23	Regulation of autophagy_Homo sapiens_hsa04140	1.56870005
24	Dopaminergic synapse_Homo sapiens_hsa04728	1.55233942
25	Alzheimers disease_Homo sapiens_hsa05010	1.53656036
26	Fatty acid elongation_Homo sapiens_hsa00062	1.51310750
27	Serotonergic synapse_Homo sapiens_hsa04726	1.42720084
28	Taste transduction_Homo sapiens_hsa04742	1.42574758
29	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.35605366
30	Amphetamine addiction_Homo sapiens_hsa05031	1.34916001
31	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.34594899
32	Type I diabetes mellitus_Homo sapiens_hsa04940	1.31750224
33	Cocaine addiction_Homo sapiens_hsa05030	1.31239985
34	Huntingtons disease_Homo sapiens_hsa05016	1.24374243
35	Salivary secretion_Homo sapiens_hsa04970	1.22970613
36	Tryptophan metabolism_Homo sapiens_hsa00380	1.18089268
37	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.08927715
38	Linoleic acid metabolism_Homo sapiens_hsa00591	1.07590303
39	Long-term depression_Homo sapiens_hsa04730	1.06449446
40	Peroxisome_Homo sapiens_hsa04146	1.06050254
41	Renin secretion_Homo sapiens_hsa04924	1.02014163
42	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.01670226
43	Olfactory transduction_Homo sapiens_hsa04740	1.00988354
44	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.99926644
45	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.99256379
46	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97253952
47	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.96188094
48	beta-Alanine metabolism_Homo sapiens_hsa00410	0.95882745
49	Vibrio cholerae infection_Homo sapiens_hsa05110	0.93330287
50	Folate biosynthesis_Homo sapiens_hsa00790	0.90677002
51	Gastric acid secretion_Homo sapiens_hsa04971	0.90216346
52	Cholinergic synapse_Homo sapiens_hsa04725	0.90080649
53	Ether lipid metabolism_Homo sapiens_hsa00565	0.89083664
54	cAMP signaling pathway_Homo sapiens_hsa04024	0.83326526
55	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.81572213
56	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.77764052
57	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.76370225
58	Oocyte meiosis_Homo sapiens_hsa04114	0.70189537
59	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.69089851
60	Mineral absorption_Homo sapiens_hsa04978	0.67979275
61	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.67327985
62	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.64653718
63	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.63538217
64	Sphingolipid metabolism_Homo sapiens_hsa00600	0.61536295
65	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.60604635
66	Calcium signaling pathway_Homo sapiens_hsa04020	0.59114486
67	Selenocompound metabolism_Homo sapiens_hsa00450	0.58031517
68	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.53372301
69	Type II diabetes mellitus_Homo sapiens_hsa04930	0.52894260
70	Fatty acid metabolism_Homo sapiens_hsa01212	0.52665504
71	Metabolic pathways_Homo sapiens_hsa01100	0.50182583
72	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49415311
73	Axon guidance_Homo sapiens_hsa04360	0.48638631
74	Nitrogen metabolism_Homo sapiens_hsa00910	0.46205777
75	Basal transcription factors_Homo sapiens_hsa03022	0.45638405
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.45564865
77	Pancreatic secretion_Homo sapiens_hsa04972	0.44809289
78	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.44558162
79	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.43363546
80	Gap junction_Homo sapiens_hsa04540	0.42918247
81	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.40363469
82	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.39792959
83	Circadian rhythm_Homo sapiens_hsa04710	0.36372691
84	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.34851772
85	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.33865622
86	Asthma_Homo sapiens_hsa05310	0.33821087
87	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.33505976
88	Long-term potentiation_Homo sapiens_hsa04720	0.32408284
89	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.31288212
90	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.30437817
91	Basal cell carcinoma_Homo sapiens_hsa05217	0.29631458
92	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.28414834
93	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.27772464
94	Alcoholism_Homo sapiens_hsa05034	0.27392039
95	Melanogenesis_Homo sapiens_hsa04916	0.27312205
96	Rheumatoid arthritis_Homo sapiens_hsa05323	0.26963307
97	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.26615584
98	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.26357823
99	Glucagon signaling pathway_Homo sapiens_hsa04922	0.26166118
100	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.25087244

DMRTC1

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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