ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.92726132
2	fucose catabolic process (GO:0019317)	4.57033123
3	L-fucose metabolic process (GO:0042354)	4.57033123
4	L-fucose catabolic process (GO:0042355)	4.57033123
5	response to pheromone (GO:0019236)	4.37152988
6	tryptophan catabolic process (GO:0006569)	3.95877155
7	indole-containing compound catabolic process (GO:0042436)	3.95877155
8	indolalkylamine catabolic process (GO:0046218)	3.95877155
9	kynurenine metabolic process (GO:0070189)	3.93569819
10	indolalkylamine metabolic process (GO:0006586)	3.69995447
11	gamma-aminobutyric acid transport (GO:0015812)	3.63490844
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.49035344
13	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.45985877
14	tryptophan metabolic process (GO:0006568)	3.36823763
15	negative regulation of translation, ncRNA-mediated (GO:0040033)	3.36411723
16	regulation of translation, ncRNA-mediated (GO:0045974)	3.36411723
17	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	3.36411723
18	kidney morphogenesis (GO:0060993)	3.28658408
19	cellular ketone body metabolic process (GO:0046950)	3.28059677
20	pyrimidine nucleobase catabolic process (GO:0006208)	3.25836416
21	negative regulation of telomere maintenance (GO:0032205)	3.21315860
22	neural tube formation (GO:0001841)	3.15257851
23	nonmotile primary cilium assembly (GO:0035058)	3.11050541
24	neuronal action potential (GO:0019228)	3.10615680
25	detection of light stimulus involved in visual perception (GO:0050908)	3.10149961
26	detection of light stimulus involved in sensory perception (GO:0050962)	3.10149961
27	DNA deamination (GO:0045006)	3.08244424
28	behavioral response to ethanol (GO:0048149)	3.07850152
29	indole-containing compound metabolic process (GO:0042430)	3.03775568
30	epithelial cilium movement (GO:0003351)	3.00486070
31	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.99681799
32	sulfation (GO:0051923)	2.96820666
33	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.95889947
34	ketone body metabolic process (GO:1902224)	2.93492192
35	regulation of action potential (GO:0098900)	2.90119701
36	primary amino compound metabolic process (GO:1901160)	2.88307078
37	reflex (GO:0060004)	2.88168821
38	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.88162375
39	nucleobase catabolic process (GO:0046113)	2.82737366
40	transmission of nerve impulse (GO:0019226)	2.79571452
41	postsynaptic membrane organization (GO:0001941)	2.79518349
42	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.79101663
43	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.79101663
44	NADH dehydrogenase complex assembly (GO:0010257)	2.79101663
45	protein polyglutamylation (GO:0018095)	2.78067457
46	somite development (GO:0061053)	2.77324101
47	water-soluble vitamin biosynthetic process (GO:0042364)	2.77246335
48	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.75568615
49	presynaptic membrane assembly (GO:0097105)	2.73592434
50	cornea development in camera-type eye (GO:0061303)	2.72509365
51	regulation of gene silencing by miRNA (GO:0060964)	2.72405367
52	regulation of gene silencing by RNA (GO:0060966)	2.72405367
53	regulation of posttranscriptional gene silencing (GO:0060147)	2.72405367
54	serotonin metabolic process (GO:0042428)	2.71888825
55	cilium morphogenesis (GO:0060271)	2.70119554
56	spinal cord motor neuron differentiation (GO:0021522)	2.69352312
57	protein complex biogenesis (GO:0070271)	2.69336298
58	protein localization to cilium (GO:0061512)	2.68741404
59	synaptic transmission, cholinergic (GO:0007271)	2.68216176
60	startle response (GO:0001964)	2.68211882
61	cAMP catabolic process (GO:0006198)	2.67617332
62	axoneme assembly (GO:0035082)	2.66870932
63	cilium organization (GO:0044782)	2.65610325
64	regulation of hippo signaling (GO:0035330)	2.63257136
65	regulation of telomere maintenance (GO:0032204)	2.62731207
66	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.62077635
67	nephron epithelium morphogenesis (GO:0072088)	2.61329669
68	nephron tubule morphogenesis (GO:0072078)	2.61329669
69	retinal cone cell development (GO:0046549)	2.60502858
70	piRNA metabolic process (GO:0034587)	2.60407342
71	cilium assembly (GO:0042384)	2.59018895
72	cilium or flagellum-dependent cell motility (GO:0001539)	2.58569555
73	cilium movement (GO:0003341)	2.58483175
74	replication fork processing (GO:0031297)	2.57831113
75	reciprocal DNA recombination (GO:0035825)	2.57016102
76	reciprocal meiotic recombination (GO:0007131)	2.57016102
77	amine catabolic process (GO:0009310)	2.56980072
78	cellular biogenic amine catabolic process (GO:0042402)	2.56980072
79	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.56169138
80	platelet dense granule organization (GO:0060155)	2.55392605
81	regulation of mesoderm development (GO:2000380)	2.55003300
82	negative regulation of mast cell activation (GO:0033004)	2.54664070
83	membrane depolarization during action potential (GO:0086010)	2.53318124
84	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.52740881
85	protein-cofactor linkage (GO:0018065)	2.50583458
86	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.50377433
87	neuron cell-cell adhesion (GO:0007158)	2.50369739
88	mitochondrial respiratory chain complex assembly (GO:0033108)	2.49484944
89	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.49225310
90	presynaptic membrane organization (GO:0097090)	2.48395157
91	fucosylation (GO:0036065)	2.47341786
92	head development (GO:0060322)	2.46788977
93	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.45916355
94	limb bud formation (GO:0060174)	2.45404289
95	positive regulation of action potential (GO:0045760)	2.44707204
96	respiratory chain complex IV assembly (GO:0008535)	2.44588373
97	rRNA catabolic process (GO:0016075)	2.44315105
98	NAD biosynthetic process (GO:0009435)	2.43300649
99	rhodopsin mediated signaling pathway (GO:0016056)	2.42905627
100	cyclic nucleotide catabolic process (GO:0009214)	2.39900013

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.90978736
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.88046430
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.30498802
4	VDR_22108803_ChIP-Seq_LS180_Human	3.20979626
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.16278456
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.67145007
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.65972440
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.30947004
9	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.22718657
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.17459938
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.14209154
12	FUS_26573619_Chip-Seq_HEK293_Human	2.12680620
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.11072660
14	EWS_26573619_Chip-Seq_HEK293_Human	2.09872912
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.02089210
16	P300_19829295_ChIP-Seq_ESCs_Human	2.00554801
17	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.98883336
18	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.88322898
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.81615954
20	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.70477151
21	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.69834891
22	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.69095272
23	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.67414082
24	REST_21632747_ChIP-Seq_MESCs_Mouse	1.67407349
25	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.67115732
26	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.65831271
27	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.63503769
28	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.62924437
29	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.61696732
30	STAT3_23295773_ChIP-Seq_U87_Human	1.61162339
31	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.60982180
32	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.60156773
33	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.60156773
34	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.60145371
35	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.59155719
36	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.58310998
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.57569365
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.56360333
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.56331418
40	IRF1_19129219_ChIP-ChIP_H3396_Human	1.52888971
41	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52666941
42	SMAD4_21799915_ChIP-Seq_A2780_Human	1.51292204
43	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.49809482
44	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.48353484
45	CBP_20019798_ChIP-Seq_JUKART_Human	1.48353484
46	AR_25329375_ChIP-Seq_VCAP_Human	1.47652066
47	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.46956728
48	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.45971634
49	* TCF4_23295773_ChIP-Seq_U87_Human	1.44384715
50	AR_21572438_ChIP-Seq_LNCaP_Human	1.41237513
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.40636020
52	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.39540324
53	RNF2_27304074_Chip-Seq_NSC_Mouse	1.37292697
54	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.35860567
55	TP53_22573176_ChIP-Seq_HFKS_Human	1.35544542
56	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.31900077
57	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.31106510
58	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.28693613
59	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.27731069
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.26267606
61	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24959376
62	MYC_18940864_ChIP-ChIP_HL60_Human	1.23282782
63	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.22821963
64	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21476733
65	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21476733
66	DROSHA_22980978_ChIP-Seq_HELA_Human	1.18997653
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.17923170
68	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.17701667
69	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.16721922
70	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.16721922
71	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.15878584
72	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.15307853
73	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.15114485
74	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13852382
75	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.12501569
76	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.11736443
77	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11691632
78	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.10745913
79	* ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.09953961
80	TP53_16413492_ChIP-PET_HCT116_Human	1.09719713
81	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.08531973
82	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.08369492
83	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.07844127
84	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.07605523
85	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.07290085
86	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05175974
87	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.04765166
88	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.04483396
89	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.02568391
90	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02411557
91	NCOR_22424771_ChIP-Seq_293T_Human	1.01620832
92	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.01432590
93	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.01160064
94	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99585760
95	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.98997581
96	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.98681889
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98409620
98	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.98369266
99	HOXB7_26014856_ChIP-Seq_BT474_Human	0.97880012
100	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.96638771

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	2.67808809
2	MP0008877_abnormal_DNA_methylation	2.64297674
3	MP0003195_calcinosis	2.62742068
4	MP0000569_abnormal_digit_pigmentation	2.49288972
5	MP0001968_abnormal_touch/_nociception	2.43362721
6	MP0005551_abnormal_eye_electrophysiolog	2.25021776
7	MP0003787_abnormal_imprinting	2.22408627
8	MP0009745_abnormal_behavioral_response	2.21902558
9	MP0009046_muscle_twitch	2.16633909
10	MP0006292_abnormal_olfactory_placode	2.05634241
11	MP0002736_abnormal_nociception_after	2.04101488
12	MP0003136_yellow_coat_color	2.01299361
13	MP0003646_muscle_fatigue	1.98389912
14	MP0004885_abnormal_endolymph	1.97205958
15	MP0002653_abnormal_ependyma_morphology	1.93328175
16	MP0004142_abnormal_muscle_tone	1.90246803
17	MP0001501_abnormal_sleep_pattern	1.86912826
18	MP0004043_abnormal_pH_regulation	1.86744748
19	MP0002272_abnormal_nervous_system	1.82960005
20	MP0004133_heterotaxia	1.81075749
21	MP0005646_abnormal_pituitary_gland	1.79616242
22	MP0006072_abnormal_retinal_apoptosis	1.77177681
23	MP0003880_abnormal_central_pattern	1.76595833
24	MP0001986_abnormal_taste_sensitivity	1.75605189
25	MP0002837_dystrophic_cardiac_calcinosis	1.71850921
26	MP0001485_abnormal_pinna_reflex	1.71200168
27	MP0008872_abnormal_physiological_respon	1.71172711
28	MP0002064_seizures	1.66182299
29	MP0001486_abnormal_startle_reflex	1.65940844
30	MP0000631_abnormal_neuroendocrine_gland	1.65466800
31	MP0000427_abnormal_hair_cycle	1.64754310
32	MP0002735_abnormal_chemical_nociception	1.64476272
33	MP0005645_abnormal_hypothalamus_physiol	1.62237616
34	MP0008875_abnormal_xenobiotic_pharmacok	1.61939002
35	MP0002638_abnormal_pupillary_reflex	1.61193235
36	MP0006276_abnormal_autonomic_nervous	1.59343798
37	MP0002572_abnormal_emotion/affect_behav	1.57172552
38	MP0005253_abnormal_eye_physiology	1.57159983
39	MP0002938_white_spotting	1.56510385
40	MP0004742_abnormal_vestibular_system	1.54192578
41	MP0002876_abnormal_thyroid_physiology	1.53506761
42	MP0003635_abnormal_synaptic_transmissio	1.49386984
43	MP0003283_abnormal_digestive_organ	1.46015732
44	MP0002557_abnormal_social/conspecific_i	1.45889028
45	MP0002063_abnormal_learning/memory/cond	1.40715293
46	MP0000778_abnormal_nervous_system	1.39208195
47	MP0002234_abnormal_pharynx_morphology	1.34887444
48	MP0002067_abnormal_sensory_capabilities	1.32531509
49	MP0005386_behavior/neurological_phenoty	1.30132213
50	MP0004924_abnormal_behavior	1.30132213
51	MP0001984_abnormal_olfaction	1.29852393
52	MP0002733_abnormal_thermal_nociception	1.29634166
53	MP0001970_abnormal_pain_threshold	1.29394073
54	MP0004145_abnormal_muscle_electrophysio	1.28266030
55	MP0005174_abnormal_tail_pigmentation	1.27455769
56	MP0003890_abnormal_embryonic-extraembry	1.24107555
57	MP0004147_increased_porphyrin_level	1.20480875
58	MP0000383_abnormal_hair_follicle	1.19886504
59	MP0003121_genomic_imprinting	1.19507439
60	MP0003011_delayed_dark_adaptation	1.17248269
61	MP0002734_abnormal_mechanical_nocicepti	1.15616685
62	MP0003878_abnormal_ear_physiology	1.10536252
63	MP0005377_hearing/vestibular/ear_phenot	1.10536252
64	MP0001529_abnormal_vocalization	1.09136690
65	MP0005423_abnormal_somatic_nervous	1.06719457
66	MP0005195_abnormal_posterior_eye	1.06389763
67	MP0003119_abnormal_digestive_system	1.06273599
68	MP0002928_abnormal_bile_duct	1.05707366
69	MP0000026_abnormal_inner_ear	1.03714228
70	MP0002752_abnormal_somatic_nervous	1.02182671
71	MP0005389_reproductive_system_phenotype	1.01809516
72	MP0010386_abnormal_urinary_bladder	1.01568038
73	MP0003122_maternal_imprinting	1.01517211
74	MP0002184_abnormal_innervation	1.01266487
75	MP0002751_abnormal_autonomic_nervous	1.00865228
76	MP0002160_abnormal_reproductive_system	1.00322809
77	MP0001293_anophthalmia	0.98437368
78	MP0004215_abnormal_myocardial_fiber	0.97024143
79	MP0003718_maternal_effect	0.96755197
80	MP0000372_irregular_coat_pigmentation	0.94624992
81	MP0003937_abnormal_limbs/digits/tail_de	0.93805681
82	MP0001919_abnormal_reproductive_system	0.93263186
83	MP0000955_abnormal_spinal_cord	0.92678674
84	MP0005084_abnormal_gallbladder_morpholo	0.90085107
85	MP0003137_abnormal_impulse_conducting	0.88850940
86	MP0002882_abnormal_neuron_morphology	0.87510711
87	MP0001963_abnormal_hearing_physiology	0.87338657
88	MP0001905_abnormal_dopamine_level	0.84396094
89	MP0002095_abnormal_skin_pigmentation	0.83824516
90	MP0008995_early_reproductive_senescence	0.83818812
91	MP0000647_abnormal_sebaceous_gland	0.83428678
92	MP0001502_abnormal_circadian_rhythm	0.82838462
93	MP0002229_neurodegeneration	0.81974823
94	MP0003698_abnormal_male_reproductive	0.81893561
95	MP0000049_abnormal_middle_ear	0.81863493
96	MP0008961_abnormal_basal_metabolism	0.81658697
97	MP0005187_abnormal_penis_morphology	0.81079044
98	MP0000538_abnormal_urinary_bladder	0.79884909
99	MP0000230_abnormal_systemic_arterial	0.78719525
100	MP0001324_abnormal_eye_pigmentation	0.77891797

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.76095193
2	Molar tooth sign on MRI (HP:0002419)	4.31639094
3	Abnormality of midbrain morphology (HP:0002418)	4.31639094
4	Pancreatic fibrosis (HP:0100732)	4.30220294
5	True hermaphroditism (HP:0010459)	4.26660751
6	Nephronophthisis (HP:0000090)	3.82555162
7	Congenital stationary night blindness (HP:0007642)	3.77706476
8	Hyperventilation (HP:0002883)	3.46247501
9	Abnormality of the renal medulla (HP:0100957)	3.30925460
10	Abnormality of the renal cortex (HP:0011035)	3.07581607
11	Cystic liver disease (HP:0006706)	3.06831562
12	Progressive cerebellar ataxia (HP:0002073)	3.06814739
13	Attenuation of retinal blood vessels (HP:0007843)	2.93126172
14	Type II lissencephaly (HP:0007260)	2.92138072
15	Genetic anticipation (HP:0003743)	2.91215068
16	Chronic hepatic failure (HP:0100626)	2.89585874
17	Medial flaring of the eyebrow (HP:0010747)	2.85703494
18	Inability to walk (HP:0002540)	2.84817795
19	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.72529084
20	Abnormality of alanine metabolism (HP:0010916)	2.72529084
21	Hyperalaninemia (HP:0003348)	2.72529084
22	Tubular atrophy (HP:0000092)	2.71016737
23	Protruding tongue (HP:0010808)	2.70609842
24	Gaze-evoked nystagmus (HP:0000640)	2.64876855
25	Sclerocornea (HP:0000647)	2.62782982
26	Pendular nystagmus (HP:0012043)	2.60111619
27	Abolished electroretinogram (ERG) (HP:0000550)	2.54515104
28	Progressive inability to walk (HP:0002505)	2.52645520
29	Broad-based gait (HP:0002136)	2.51174353
30	Furrowed tongue (HP:0000221)	2.47407374
31	Anencephaly (HP:0002323)	2.41612417
32	Lissencephaly (HP:0001339)	2.39064263
33	Concave nail (HP:0001598)	2.38219101
34	Gait imbalance (HP:0002141)	2.37556867
35	Abnormal drinking behavior (HP:0030082)	2.36901557
36	Polydipsia (HP:0001959)	2.36901557
37	Patellar aplasia (HP:0006443)	2.36676555
38	Large for gestational age (HP:0001520)	2.35452551
39	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.32109589
40	Decreased central vision (HP:0007663)	2.28117076
41	Febrile seizures (HP:0002373)	2.27301925
42	Keratoconus (HP:0000563)	2.26464149
43	Increased corneal curvature (HP:0100692)	2.26464149
44	Birth length less than 3rd percentile (HP:0003561)	2.23057216
45	Congenital primary aphakia (HP:0007707)	2.21837197
46	Aplasia/Hypoplasia of the patella (HP:0006498)	2.21046856
47	Congenital, generalized hypertrichosis (HP:0004540)	2.20652640
48	Congenital hepatic fibrosis (HP:0002612)	2.18172675
49	Clumsiness (HP:0002312)	2.15967925
50	Male pseudohermaphroditism (HP:0000037)	2.15203149
51	Bile duct proliferation (HP:0001408)	2.15153999
52	Abnormal biliary tract physiology (HP:0012439)	2.15153999
53	Abnormal rod and cone electroretinograms (HP:0008323)	2.14372190
54	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.14343664
55	Absent/shortened dynein arms (HP:0200106)	2.14343664
56	Cerebellar dysplasia (HP:0007033)	2.14063371
57	Decreased circulating renin level (HP:0003351)	2.12628245
58	Stomach cancer (HP:0012126)	2.11722796
59	Abnormality of the labia minora (HP:0012880)	2.11251563
60	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.09681466
61	Genital tract atresia (HP:0001827)	2.09631616
62	Chorioretinal atrophy (HP:0000533)	2.09236136
63	Nephrogenic diabetes insipidus (HP:0009806)	2.06889911
64	Vaginal atresia (HP:0000148)	2.04871902
65	Optic nerve hypoplasia (HP:0000609)	2.02327661
66	Postaxial foot polydactyly (HP:0001830)	2.01632660
67	Focal motor seizures (HP:0011153)	2.01623734
68	Polyuria (HP:0000103)	2.00035550
69	Renal cortical cysts (HP:0000803)	1.99911257
70	Hemiparesis (HP:0001269)	1.99134627
71	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.97611681
72	Absent speech (HP:0001344)	1.97141641
73	Colon cancer (HP:0003003)	1.97040483
74	Focal seizures (HP:0007359)	1.91687924
75	Abnormality of the pons (HP:0007361)	1.91580081
76	Hypoplasia of the pons (HP:0012110)	1.89923099
77	Pachygyria (HP:0001302)	1.88300055
78	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.86302669
79	Bony spicule pigmentary retinopathy (HP:0007737)	1.86079988
80	Fair hair (HP:0002286)	1.84608593
81	Abnormal respiratory motile cilium morphology (HP:0005938)	1.83667934
82	Abnormal respiratory epithelium morphology (HP:0012253)	1.83667934
83	Oligodactyly (hands) (HP:0001180)	1.82201615
84	Bilateral microphthalmos (HP:0007633)	1.81413741
85	Severe muscular hypotonia (HP:0006829)	1.78755148
86	Anophthalmia (HP:0000528)	1.77312846
87	Poor coordination (HP:0002370)	1.76713560
88	Tachypnea (HP:0002789)	1.75731888
89	Dialeptic seizures (HP:0011146)	1.74741907
90	Preaxial hand polydactyly (HP:0001177)	1.73885609
91	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.72536979
92	Optic disc pallor (HP:0000543)	1.72383808
93	Partial agenesis of the corpus callosum (HP:0001338)	1.72288622
94	Postaxial hand polydactyly (HP:0001162)	1.71784652
95	Congenital sensorineural hearing impairment (HP:0008527)	1.71764475
96	Limb dystonia (HP:0002451)	1.71081703
97	Retinal dysplasia (HP:0007973)	1.71034215
98	Dandy-Walker malformation (HP:0001305)	1.69383368
99	Abnormal ciliary motility (HP:0012262)	1.68355034
100	Drooling (HP:0002307)	1.68230625

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.97570623
2	ADRBK2	3.34164239
3	BMPR1B	3.31747286
4	WNK3	2.80991033
5	ACVR1B	2.71179121
6	CASK	2.59086798
7	INSRR	2.55037852
8	WNK4	2.42323466
9	ZAK	2.35378560
10	GRK1	2.30094239
11	PINK1	2.28843901
12	MAP4K2	2.25743053
13	TLK1	2.21518749
14	NUAK1	1.97999444
15	MAPK13	1.97677909
16	MARK1	1.91251147
17	TNIK	1.85581609
18	TAOK3	1.81018550
19	MAP3K4	1.69468941
20	OXSR1	1.56727236
21	MKNK2	1.55874565
22	PNCK	1.49488010
23	DAPK2	1.49280229
24	STK39	1.36661500
25	NTRK3	1.30544049
26	ADRBK1	1.26251963
27	DYRK2	1.25818385
28	TGFBR1	1.21958829
29	PAK3	1.11961035
30	NTRK2	1.10674269
31	PRKCG	1.04284227
32	TXK	1.03569744
33	FGFR2	1.00942447
34	MAP2K7	0.98212171
35	MAPK15	0.94376010
36	PRKCE	0.92637821
37	PIK3CA	0.92087978
38	EPHA4	0.88162140
39	SIK2	0.86094626
40	STK38L	0.80179449
41	CSNK1G2	0.78084552
42	MAP2K6	0.75907216
43	PLK2	0.75329191
44	PHKG1	0.73321413
45	PHKG2	0.73321413
46	CAMKK2	0.73268435
47	MKNK1	0.71050147
48	CAMK1D	0.69468339
49	AKT3	0.67607472
50	CSNK1G1	0.67076928
51	VRK1	0.67057474
52	NLK	0.66938573
53	TIE1	0.66385922
54	MAPKAPK3	0.64973928
55	CAMK1G	0.61690093
56	PKN1	0.61434371
57	CAMK2A	0.59928532
58	PTK2B	0.59602186
59	CSNK1G3	0.59272675
60	NEK2	0.58433964
61	CSNK1A1L	0.58303353
62	BCR	0.57672680
63	TRIM28	0.57248023
64	STK11	0.57039185
65	MAPKAPK5	0.56980435
66	CAMK1	0.56805268
67	WEE1	0.50419545
68	OBSCN	0.50062357
69	RPS6KA5	0.49743250
70	PRKACA	0.45871748
71	MUSK	0.45633754
72	TEC	0.45598474
73	PRKCQ	0.45233920
74	PLK4	0.44669954
75	BCKDK	0.44176093
76	BRSK2	0.42884623
77	SGK2	0.42558586
78	KIT	0.42207600
79	PRKCZ	0.42034668
80	CHUK	0.41756949
81	CSNK1D	0.41690918
82	DYRK1A	0.40205501
83	CSNK1A1	0.39516570
84	WNK1	0.38286854
85	PRKAA1	0.37891396
86	ERBB2	0.37725976
87	TYRO3	0.36426264
88	NME1	0.35345486
89	SGK494	0.34381641
90	SGK223	0.34381641
91	PRKCA	0.34025507
92	CDK3	0.33878457
93	PLK3	0.33572090
94	GRK7	0.33500959
95	PRKG1	0.33319641
96	TAF1	0.33087317
97	IRAK1	0.32827077
98	CHEK2	0.32794500
99	MAP2K4	0.32322117
100	RPS6KA6	0.32064246

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.93233805
2	Nicotine addiction_Homo sapiens_hsa05033	2.89462419
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.68301497
4	Nitrogen metabolism_Homo sapiens_hsa00910	2.62074997
5	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.58477072
6	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.54475626
7	Butanoate metabolism_Homo sapiens_hsa00650	2.36988152
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.23449560
9	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.20722904
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.10352258
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.10122337
12	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.97073548
13	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.85252485
14	Tryptophan metabolism_Homo sapiens_hsa00380	1.82352864
15	Ether lipid metabolism_Homo sapiens_hsa00565	1.80177721
16	Homologous recombination_Homo sapiens_hsa03440	1.79919213
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.77662973
18	Caffeine metabolism_Homo sapiens_hsa00232	1.75046090
19	Oxidative phosphorylation_Homo sapiens_hsa00190	1.73849743
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.72412485
21	Morphine addiction_Homo sapiens_hsa05032	1.71947349
22	Taste transduction_Homo sapiens_hsa04742	1.71254769
23	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.53634657
24	Fanconi anemia pathway_Homo sapiens_hsa03460	1.51195174
25	RNA polymerase_Homo sapiens_hsa03020	1.49807216
26	Olfactory transduction_Homo sapiens_hsa04740	1.49739369
27	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.48635961
28	Basal transcription factors_Homo sapiens_hsa03022	1.44601259
29	Circadian entrainment_Homo sapiens_hsa04713	1.41088814
30	Glutamatergic synapse_Homo sapiens_hsa04724	1.37456253
31	GABAergic synapse_Homo sapiens_hsa04727	1.32879847
32	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.32118970
33	Parkinsons disease_Homo sapiens_hsa05012	1.29952440
34	Insulin secretion_Homo sapiens_hsa04911	1.25924063
35	Cardiac muscle contraction_Homo sapiens_hsa04260	1.22693494
36	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.22297721
37	ABC transporters_Homo sapiens_hsa02010	1.21957429
38	Serotonergic synapse_Homo sapiens_hsa04726	1.21219981
39	Protein export_Homo sapiens_hsa03060	1.20270429
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.16815166
41	Propanoate metabolism_Homo sapiens_hsa00640	1.14939825
42	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07407613
43	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.06427786
44	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.04133244
45	Chemical carcinogenesis_Homo sapiens_hsa05204	1.03331653
46	RNA degradation_Homo sapiens_hsa03018	0.99387504
47	Calcium signaling pathway_Homo sapiens_hsa04020	0.97506505
48	One carbon pool by folate_Homo sapiens_hsa00670	0.96602091
49	Peroxisome_Homo sapiens_hsa04146	0.96234422
50	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.92206795
51	Huntingtons disease_Homo sapiens_hsa05016	0.91930178
52	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.91676681
53	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.90819897
54	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.89869388
55	Salivary secretion_Homo sapiens_hsa04970	0.87290941
56	Alzheimers disease_Homo sapiens_hsa05010	0.86310899
57	Retinol metabolism_Homo sapiens_hsa00830	0.83683234
58	Dopaminergic synapse_Homo sapiens_hsa04728	0.82724020
59	Cocaine addiction_Homo sapiens_hsa05030	0.80242387
60	Glycerolipid metabolism_Homo sapiens_hsa00561	0.76276109
61	Histidine metabolism_Homo sapiens_hsa00340	0.76156605
62	Regulation of autophagy_Homo sapiens_hsa04140	0.75978786
63	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.74005288
64	beta-Alanine metabolism_Homo sapiens_hsa00410	0.73226265
65	Cholinergic synapse_Homo sapiens_hsa04725	0.70699524
66	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.70426667
67	Long-term depression_Homo sapiens_hsa04730	0.69775282
68	Amphetamine addiction_Homo sapiens_hsa05031	0.67635514
69	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.67633029
70	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.67534216
71	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.66518088
72	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.65390679
73	Basal cell carcinoma_Homo sapiens_hsa05217	0.65162495
74	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.64368524
75	Purine metabolism_Homo sapiens_hsa00230	0.59539245
76	cAMP signaling pathway_Homo sapiens_hsa04024	0.54818002
77	Gastric acid secretion_Homo sapiens_hsa04971	0.53951802
78	Fat digestion and absorption_Homo sapiens_hsa04975	0.52262932
79	Collecting duct acid secretion_Homo sapiens_hsa04966	0.51735417
80	Circadian rhythm_Homo sapiens_hsa04710	0.49892787
81	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.48940112
82	Mineral absorption_Homo sapiens_hsa04978	0.47383941
83	Asthma_Homo sapiens_hsa05310	0.46996004
84	Metabolic pathways_Homo sapiens_hsa01100	0.43952875
85	Sulfur relay system_Homo sapiens_hsa04122	0.42592870
86	Axon guidance_Homo sapiens_hsa04360	0.41258119
87	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.41153237
88	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.39132879
89	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.39102335
90	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.37759475
91	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.37306953
92	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.36472578
93	Renin secretion_Homo sapiens_hsa04924	0.35793372
94	Primary immunodeficiency_Homo sapiens_hsa05340	0.35790167
95	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.35209047
96	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.33956486
97	Non-homologous end-joining_Homo sapiens_hsa03450	0.32562801
98	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.31744841
99	Lysine degradation_Homo sapiens_hsa00310	0.31306333
100	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.30945094

ZNF793

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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