ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	L-fucose catabolic process (GO:0042355)	4.60352596
2	fucose catabolic process (GO:0019317)	4.60352596
3	L-fucose metabolic process (GO:0042354)	4.60352596
4	cellular ketone body metabolic process (GO:0046950)	4.37439492
5	platelet dense granule organization (GO:0060155)	4.28862244
6	regulation of glucokinase activity (GO:0033131)	4.28235587
7	regulation of hexokinase activity (GO:1903299)	4.28235587
8	behavioral response to nicotine (GO:0035095)	4.06442403
9	protein K11-linked deubiquitination (GO:0035871)	4.05104881
10	ketone body metabolic process (GO:1902224)	4.02416595
11	negative regulation of mast cell activation (GO:0033004)	4.01212679
12	response to pheromone (GO:0019236)	3.96280429
13	piRNA metabolic process (GO:0034587)	3.82879857
14	indolalkylamine metabolic process (GO:0006586)	3.73656047
15	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.69125045
16	detection of light stimulus involved in visual perception (GO:0050908)	3.59104744
17	detection of light stimulus involved in sensory perception (GO:0050962)	3.59104744
18	DNA double-strand break processing (GO:0000729)	3.51367198
19	tryptophan metabolic process (GO:0006568)	3.51137443
20	phosphatidylinositol acyl-chain remodeling (GO:0036149)	3.48924252
21	tryptophan catabolic process (GO:0006569)	3.47862998
22	indole-containing compound catabolic process (GO:0042436)	3.47862998
23	indolalkylamine catabolic process (GO:0046218)	3.47862998
24	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.47089778
25	kidney morphogenesis (GO:0060993)	3.45802940
26	axoneme assembly (GO:0035082)	3.44103750
27	DNA deamination (GO:0045006)	3.40620625
28	DNA methylation involved in gamete generation (GO:0043046)	3.39813721
29	retinal cone cell development (GO:0046549)	3.37657795
30	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.32927500
31	signal peptide processing (GO:0006465)	3.29115606
32	kynurenine metabolic process (GO:0070189)	3.27833817
33	neural tube formation (GO:0001841)	3.26886086
34	dopamine transport (GO:0015872)	3.12738791
35	replication fork processing (GO:0031297)	3.12116278
36	photoreceptor cell maintenance (GO:0045494)	3.11035004
37	respiratory chain complex IV assembly (GO:0008535)	3.06141897
38	negative regulation of telomere maintenance (GO:0032205)	3.04444869
39	recombinational repair (GO:0000725)	3.03488754
40	double-strand break repair via homologous recombination (GO:0000724)	3.03452855
41	adaptation of signaling pathway (GO:0023058)	3.03000726
42	cilium morphogenesis (GO:0060271)	3.01227050
43	water-soluble vitamin biosynthetic process (GO:0042364)	3.00600496
44	regulation of action potential (GO:0098900)	2.97630134
45	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.96208339
46	rRNA catabolic process (GO:0016075)	2.95754883
47	nonmotile primary cilium assembly (GO:0035058)	2.92308681
48	epithelial cilium movement (GO:0003351)	2.90766674
49	protein-cofactor linkage (GO:0018065)	2.90349511
50	protein polyglutamylation (GO:0018095)	2.89843031
51	meiotic chromosome segregation (GO:0045132)	2.86698268
52	anterograde synaptic vesicle transport (GO:0048490)	2.85196212
53	synapsis (GO:0007129)	2.80108042
54	preassembly of GPI anchor in ER membrane (GO:0016254)	2.79169457
55	cornea development in camera-type eye (GO:0061303)	2.79035302
56	reciprocal DNA recombination (GO:0035825)	2.78696250
57	reciprocal meiotic recombination (GO:0007131)	2.78696250
58	photoreceptor cell development (GO:0042461)	2.78487058
59	regulation of meiosis I (GO:0060631)	2.78057380
60	DNA demethylation (GO:0080111)	2.78042569
61	centriole replication (GO:0007099)	2.77550532
62	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.72165705
63	protein prenylation (GO:0018342)	2.72113566
64	prenylation (GO:0097354)	2.72113566
65	regulation of telomere maintenance (GO:0032204)	2.71980948
66	rhodopsin mediated signaling pathway (GO:0016056)	2.70925947
67	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.69008217
68	cytochrome complex assembly (GO:0017004)	2.67978913
69	reflex (GO:0060004)	2.67016012
70	establishment of protein localization to Golgi (GO:0072600)	2.66865699
71	adenosine metabolic process (GO:0046085)	2.65424091
72	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.61822733
73	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.61822733
74	NADH dehydrogenase complex assembly (GO:0010257)	2.61822733
75	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.61317436
76	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.60476583
77	protein complex biogenesis (GO:0070271)	2.58773992
78	regulation of hippo signaling (GO:0035330)	2.58084197
79	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.57871740
80	C4-dicarboxylate transport (GO:0015740)	2.57032354
81	peptidyl-histidine modification (GO:0018202)	2.55921048
82	positive regulation of defense response to virus by host (GO:0002230)	2.55280195
83	indole-containing compound metabolic process (GO:0042430)	2.54893906
84	S-adenosylmethionine metabolic process (GO:0046500)	2.52465895
85	proline transport (GO:0015824)	2.51572131
86	auditory receptor cell stereocilium organization (GO:0060088)	2.51152689
87	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.49501839
88	cilium organization (GO:0044782)	2.47836098
89	glycosphingolipid biosynthetic process (GO:0006688)	2.46303721
90	mitochondrial respiratory chain complex assembly (GO:0033108)	2.43145891
91	cilium or flagellum-dependent cell motility (GO:0001539)	2.43144892
92	cilium assembly (GO:0042384)	2.42839022
93	eye photoreceptor cell development (GO:0042462)	2.41989337
94	cell wall macromolecule metabolic process (GO:0044036)	2.41354097
95	cellular biogenic amine catabolic process (GO:0042402)	2.41270778
96	amine catabolic process (GO:0009310)	2.41270778
97	regulation of memory T cell differentiation (GO:0043380)	2.41154306
98	cytidine metabolic process (GO:0046087)	2.41021243
99	cytidine catabolic process (GO:0006216)	2.41021243
100	cytidine deamination (GO:0009972)	2.41021243

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.88923542
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.08055321
3	VDR_22108803_ChIP-Seq_LS180_Human	2.89490954
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.89403825
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.63813080
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.57091863
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.54000307
8	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.52520836
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.45561887
10	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.41996921
11	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21719003
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.21628853
13	ER_23166858_ChIP-Seq_MCF-7_Human	2.16633252
14	EWS_26573619_Chip-Seq_HEK293_Human	2.15482391
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.12709837
16	P300_19829295_ChIP-Seq_ESCs_Human	2.04823720
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.04782514
18	FUS_26573619_Chip-Seq_HEK293_Human	2.03649232
19	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.02873767
20	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.97186770
21	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.96028836
22	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.91274394
23	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.88377299
24	EZH2_22144423_ChIP-Seq_EOC_Human	1.82224458
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.75735106
26	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.71670185
27	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.70027071
28	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.69375061
29	BCAT_22108803_ChIP-Seq_LS180_Human	1.60958299
30	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.60334429
31	CBP_20019798_ChIP-Seq_JUKART_Human	1.60334429
32	STAT3_23295773_ChIP-Seq_U87_Human	1.59167900
33	* TP53_22573176_ChIP-Seq_HFKS_Human	1.59005256
34	AR_25329375_ChIP-Seq_VCAP_Human	1.55582572
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.55166196
36	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.51690438
37	TCF4_23295773_ChIP-Seq_U87_Human	1.51070620
38	SMAD4_21799915_ChIP-Seq_A2780_Human	1.45957092
39	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.45007167
40	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.44930948
41	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.42372279
42	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.42162373
43	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.41694240
44	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.40606357
45	IRF1_19129219_ChIP-ChIP_H3396_Human	1.39610057
46	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.39573665
47	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.39507453
48	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.37952690
49	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.36525508
50	ELK1_19687146_ChIP-ChIP_HELA_Human	1.34965186
51	MYC_18940864_ChIP-ChIP_HL60_Human	1.34143213
52	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.32935109
53	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.32177361
54	TCF4_22108803_ChIP-Seq_LS180_Human	1.30993470
55	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.30293284
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30227518
57	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30227518
58	VDR_23849224_ChIP-Seq_CD4+_Human	1.28568455
59	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.27927832
60	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.26624927
61	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.25060359
62	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.24742860
63	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23001007
64	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.22502775
65	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.21383785
66	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.21041486
67	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20194839
68	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.20194839
69	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.20096539
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.20096539
71	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.18705868
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.18144244
73	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.17811724
74	AR_20517297_ChIP-Seq_VCAP_Human	1.16900243
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16403765
76	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.15620880
77	CDX2_22108803_ChIP-Seq_LS180_Human	1.15242362
78	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.15089037
79	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.14872019
80	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.13909544
81	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13478301
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12411758
83	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12188906
84	HOXB7_26014856_ChIP-Seq_BT474_Human	1.11498325
85	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.10600519
86	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.09824734
87	NCOR_22424771_ChIP-Seq_293T_Human	1.09004531
88	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08243134
89	AR_21572438_ChIP-Seq_LNCaP_Human	1.07962440
90	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.06903139
91	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.06586057
92	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.04699440
93	P53_22387025_ChIP-Seq_ESCs_Mouse	1.02334405
94	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.01605446
95	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.00981979
96	GATA3_26560356_Chip-Seq_TH2_Human	0.99672593
97	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.99144031
98	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.96182590
99	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.96151949
100	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.96088633

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	3.45829240
2	MP0003195_calcinosis	3.43786629
3	MP0008877_abnormal_DNA_methylation	3.22500263
4	MP0002638_abnormal_pupillary_reflex	2.82783362
5	MP0002102_abnormal_ear_morphology	2.78589825
6	MP0005551_abnormal_eye_electrophysiolog	2.51173338
7	MP0005174_abnormal_tail_pigmentation	2.28875419
8	MP0005645_abnormal_hypothalamus_physiol	2.25504017
9	MP0002876_abnormal_thyroid_physiology	2.20339100
10	MP0003787_abnormal_imprinting	2.16015421
11	MP0004147_increased_porphyrin_level	2.11771727
12	MP0005253_abnormal_eye_physiology	2.11570976
13	MP0000015_abnormal_ear_pigmentation	2.05488618
14	MP0003646_muscle_fatigue	2.00502408
15	MP0002837_dystrophic_cardiac_calcinosis	1.98535617
16	MP0001968_abnormal_touch/_nociception	1.96386827
17	MP0003011_delayed_dark_adaptation	1.91050730
18	MP0006072_abnormal_retinal_apoptosis	1.85592350
19	MP0001986_abnormal_taste_sensitivity	1.85102445
20	MP0000427_abnormal_hair_cycle	1.84974212
21	MP0000372_irregular_coat_pigmentation	1.79714452
22	MP0008057_abnormal_DNA_replication	1.78699133
23	MP0008872_abnormal_physiological_respon	1.69221107
24	MP0002736_abnormal_nociception_after	1.68541399
25	MP0005646_abnormal_pituitary_gland	1.68539538
26	MP0002928_abnormal_bile_duct	1.66630607
27	MP0009046_muscle_twitch	1.65119623
28	MP0005075_abnormal_melanosome_morpholog	1.54453703
29	MP0004043_abnormal_pH_regulation	1.53215256
30	MP0004142_abnormal_muscle_tone	1.45369997
31	MP0002095_abnormal_skin_pigmentation	1.42325826
32	MP0009745_abnormal_behavioral_response	1.38913700
33	MP0005379_endocrine/exocrine_gland_phen	1.37962476
34	MP0004885_abnormal_endolymph	1.37064419
35	MP0001501_abnormal_sleep_pattern	1.31938378
36	MP0005167_abnormal_blood-brain_barrier	1.31393591
37	MP0005084_abnormal_gallbladder_morpholo	1.31207186
38	MP0001324_abnormal_eye_pigmentation	1.28144195
39	MP0003252_abnormal_bile_duct	1.26140287
40	MP0001486_abnormal_startle_reflex	1.23198364
41	MP0000383_abnormal_hair_follicle	1.22915006
42	MP0008058_abnormal_DNA_repair	1.21264692
43	MP0006276_abnormal_autonomic_nervous	1.20477800
44	MP0001529_abnormal_vocalization	1.20157275
45	MP0003718_maternal_effect	1.19061058
46	MP0002138_abnormal_hepatobiliary_system	1.18721019
47	MP0008875_abnormal_xenobiotic_pharmacok	1.18480304
48	MP0004133_heterotaxia	1.18251165
49	MP0004924_abnormal_behavior	1.16751493
50	MP0005386_behavior/neurological_phenoty	1.16751493
51	MP0003136_yellow_coat_color	1.16493529
52	MP0002693_abnormal_pancreas_physiology	1.14472749
53	MP0005389_reproductive_system_phenotype	1.13200877
54	MP0001984_abnormal_olfaction	1.11856334
55	MP0002909_abnormal_adrenal_gland	1.11298997
56	MP0002272_abnormal_nervous_system	1.10652499
57	MP0008995_early_reproductive_senescence	1.09314709
58	MP0003943_abnormal_hepatobiliary_system	1.06208110
59	MP0006054_spinal_hemorrhage	1.05927754
60	MP0001764_abnormal_homeostasis	1.05694261
61	MP0002938_white_spotting	1.05110939
62	MP0002163_abnormal_gland_morphology	1.04018413
63	MP0002653_abnormal_ependyma_morphology	1.03743655
64	MP0005171_absent_coat_pigmentation	1.00576371
65	MP0002160_abnormal_reproductive_system	1.00301593
66	MP0001485_abnormal_pinna_reflex	0.99962452
67	MP0010386_abnormal_urinary_bladder	0.98716875
68	MP0004742_abnormal_vestibular_system	0.96743006
69	MP0002751_abnormal_autonomic_nervous	0.96128260
70	MP0004145_abnormal_muscle_electrophysio	0.95108227
71	MP0001929_abnormal_gametogenesis	0.94680149
72	MP0000631_abnormal_neuroendocrine_gland	0.93857236
73	MP0001919_abnormal_reproductive_system	0.93627838
74	MP0009697_abnormal_copulation	0.91919432
75	MP0003698_abnormal_male_reproductive	0.91027866
76	MP0002229_neurodegeneration	0.89823511
77	MP0006292_abnormal_olfactory_placode	0.89279641
78	MP0000371_diluted_coat_color	0.86575037
79	MP0002822_catalepsy	0.85063940
80	MP0002210_abnormal_sex_determination	0.84987524
81	MP0002067_abnormal_sensory_capabilities	0.84710975
82	MP0008775_abnormal_heart_ventricle	0.84251815
83	MP0006035_abnormal_mitochondrial_morpho	0.83842503
84	MP0000538_abnormal_urinary_bladder	0.82812627
85	MP0005195_abnormal_posterior_eye	0.82664739
86	MP0003786_premature_aging	0.81535154
87	MP0003283_abnormal_digestive_organ	0.80992216
88	MP0002735_abnormal_chemical_nociception	0.80278441
89	MP0002557_abnormal_social/conspecific_i	0.79972626
90	MP0000647_abnormal_sebaceous_gland	0.79818156
91	MP0005266_abnormal_metabolism	0.79450961
92	MP0002277_abnormal_respiratory_mucosa	0.77733223
93	MP0001905_abnormal_dopamine_level	0.77033418
94	MP0005410_abnormal_fertilization	0.76378711
95	MP0000653_abnormal_sex_gland	0.76280440
96	MP0002064_seizures	0.74642058
97	MP0001502_abnormal_circadian_rhythm	0.74228616
98	MP0005310_abnormal_salivary_gland	0.73374182
99	MP0005671_abnormal_response_to	0.72844913
100	MP0003656_abnormal_erythrocyte_physiolo	0.72281244

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.79678790
2	Pancreatic fibrosis (HP:0100732)	4.37869460
3	True hermaphroditism (HP:0010459)	4.10105999
4	Abnormality of the renal cortex (HP:0011035)	3.94702976
5	Abnormality of midbrain morphology (HP:0002418)	3.64821086
6	Molar tooth sign on MRI (HP:0002419)	3.64821086
7	Congenital stationary night blindness (HP:0007642)	3.60915705
8	Attenuation of retinal blood vessels (HP:0007843)	3.36549763
9	Nephronophthisis (HP:0000090)	3.17724699
10	Renal cortical cysts (HP:0000803)	3.10691829
11	Abnormality of the renal medulla (HP:0100957)	3.05671275
12	Cystic liver disease (HP:0006706)	3.05173598
13	Gaze-evoked nystagmus (HP:0000640)	2.96442800
14	Chronic hepatic failure (HP:0100626)	2.91787016
15	Medial flaring of the eyebrow (HP:0010747)	2.88192647
16	Hyperventilation (HP:0002883)	2.82401937
17	Tubular atrophy (HP:0000092)	2.77506573
18	Type II lissencephaly (HP:0007260)	2.76536821
19	Polydipsia (HP:0001959)	2.68534996
20	Abnormal drinking behavior (HP:0030082)	2.68534996
21	Bile duct proliferation (HP:0001408)	2.67452357
22	Abnormal biliary tract physiology (HP:0012439)	2.67452357
23	Ketoacidosis (HP:0001993)	2.62044430
24	Abolished electroretinogram (ERG) (HP:0000550)	2.61884298
25	Progressive inability to walk (HP:0002505)	2.61575107
26	Pendular nystagmus (HP:0012043)	2.49233232
27	Abnormal rod and cone electroretinograms (HP:0008323)	2.49025552
28	Methylmalonic acidemia (HP:0002912)	2.46876644
29	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.44935942
30	Large for gestational age (HP:0001520)	2.41438119
31	Congenital hepatic fibrosis (HP:0002612)	2.40388921
32	Sclerocornea (HP:0000647)	2.39449720
33	Decreased central vision (HP:0007663)	2.38674568
34	Hypothermia (HP:0002045)	2.37418839
35	Albinism (HP:0001022)	2.34469123
36	Ketosis (HP:0001946)	2.31641792
37	Inability to walk (HP:0002540)	2.28635661
38	Furrowed tongue (HP:0000221)	2.25907563
39	Increased corneal curvature (HP:0100692)	2.22526675
40	Keratoconus (HP:0000563)	2.22526675
41	Hemiparesis (HP:0001269)	2.22194618
42	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.18099510
43	Abnormality of alanine metabolism (HP:0010916)	2.18099510
44	Hyperalaninemia (HP:0003348)	2.18099510
45	Fair hair (HP:0002286)	2.17461980
46	Methylmalonic aciduria (HP:0012120)	2.17406830
47	Polyuria (HP:0000103)	2.17338663
48	Decreased circulating renin level (HP:0003351)	2.16868622
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.15122101
50	Genetic anticipation (HP:0003743)	2.13524664
51	Anencephaly (HP:0002323)	2.11572523
52	Stomach cancer (HP:0012126)	2.10696169
53	Male pseudohermaphroditism (HP:0000037)	2.08944126
54	Lissencephaly (HP:0001339)	2.08905753
55	Protruding tongue (HP:0010808)	2.06637929
56	Congenital sensorineural hearing impairment (HP:0008527)	2.05399566
57	Hypoplasia of the fovea (HP:0007750)	2.05186274
58	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.05186274
59	Progressive cerebellar ataxia (HP:0002073)	2.04047360
60	Congenital primary aphakia (HP:0007707)	2.02996267
61	Gait imbalance (HP:0002141)	2.01239046
62	Nephrogenic diabetes insipidus (HP:0009806)	1.99551612
63	3-Methylglutaconic aciduria (HP:0003535)	1.97440430
64	Cerebellar dysplasia (HP:0007033)	1.97299365
65	Lipid accumulation in hepatocytes (HP:0006561)	1.96205535
66	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.94337567
67	Intestinal atresia (HP:0011100)	1.93600842
68	Oculomotor apraxia (HP:0000657)	1.93528967
69	Postaxial foot polydactyly (HP:0001830)	1.92411227
70	Progressive macrocephaly (HP:0004481)	1.91030604
71	Widely spaced teeth (HP:0000687)	1.90410846
72	Stomatitis (HP:0010280)	1.90280723
73	Febrile seizures (HP:0002373)	1.90091164
74	Acute necrotizing encephalopathy (HP:0006965)	1.89840294
75	Absent speech (HP:0001344)	1.89371248
76	Thyroiditis (HP:0100646)	1.89088192
77	Disproportionate short-trunk short stature (HP:0003521)	1.87014106
78	Increased CSF lactate (HP:0002490)	1.85536184
79	Bony spicule pigmentary retinopathy (HP:0007737)	1.84848132
80	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.83091781
81	Abnormality of vitamin B metabolism (HP:0004340)	1.83002526
82	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.82699976
83	Optic disc pallor (HP:0000543)	1.79758553
84	Pachygyria (HP:0001302)	1.77934600
85	Abnormality of the fovea (HP:0000493)	1.77188080
86	Abnormality of the pons (HP:0007361)	1.77140713
87	Mitochondrial inheritance (HP:0001427)	1.76275541
88	Abnormality of macular pigmentation (HP:0008002)	1.75475435
89	Sloping forehead (HP:0000340)	1.75035857
90	Broad-based gait (HP:0002136)	1.73982597
91	Hypokalemic alkalosis (HP:0001949)	1.73071782
92	Small hand (HP:0200055)	1.72786305
93	Tubulointerstitial abnormality (HP:0001969)	1.71260711
94	Dandy-Walker malformation (HP:0001305)	1.70676842
95	Acute encephalopathy (HP:0006846)	1.68213135
96	Abnormal albumin level (HP:0012116)	1.67289944
97	Hypoalbuminemia (HP:0003073)	1.67289944
98	Oligohydramnios (HP:0001562)	1.66244352
99	Colon cancer (HP:0003003)	1.66140208
100	Generalized hypopigmentation of hair (HP:0011358)	1.65210723

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.53683289
2	BMPR1B	3.72756689
3	ADRBK2	2.92611580
4	ZAK	2.57262361
5	MAP4K2	2.48181959
6	ACVR1B	2.45891952
7	WNK3	2.34702814
8	TAOK3	2.29167981
9	GRK1	2.17843986
10	PINK1	2.12031336
11	MAPK13	2.05947128
12	CASK	2.01767338
13	TNIK	1.92075524
14	NUAK1	1.78046386
15	TRIM28	1.78034041
16	MAP3K4	1.71709735
17	MKNK2	1.69587858
18	BRSK2	1.60297938
19	TXK	1.55801008
20	INSRR	1.51178912
21	MST4	1.45171322
22	TLK1	1.39305878
23	OXSR1	1.35807474
24	WNK4	1.26362762
25	MAPKAPK3	1.20393837
26	STK38L	1.18264233
27	PAK3	1.15320446
28	WEE1	1.13149371
29	EIF2AK3	1.11247862
30	PTK2B	1.10297843
31	TGFBR1	1.04802695
32	MKNK1	1.01456997
33	MAP2K6	0.98035792
34	CSNK1G3	0.96763467
35	CSNK1G1	0.95603652
36	CSNK1G2	0.94838227
37	ADRBK1	0.94827453
38	TRPM7	0.91689998
39	BCKDK	0.90656304
40	MUSK	0.90577477
41	VRK1	0.81586833
42	TEC	0.81288281
43	PRKCE	0.81176579
44	STK39	0.81163402
45	EIF2AK1	0.80130666
46	ERBB3	0.79376696
47	DYRK2	0.78203947
48	FER	0.77169769
49	DAPK2	0.75131029
50	PLK2	0.75026916
51	IKBKB	0.73495103
52	MARK3	0.70742997
53	TNK2	0.69155780
54	PLK4	0.68865528
55	BCR	0.67974368
56	PRKAA2	0.66514198
57	PLK3	0.62816282
58	PRKCG	0.59162671
59	CSNK1A1L	0.58900554
60	MAPKAPK5	0.58786886
61	STK3	0.57445340
62	TIE1	0.56700242
63	SYK	0.56245060
64	FGFR2	0.56083785
65	CAMKK2	0.53939448
66	MAP2K7	0.49364730
67	NLK	0.48537851
68	RPS6KA4	0.47998141
69	MARK1	0.47645292
70	PRKCQ	0.47518515
71	PIK3CA	0.46344695
72	RPS6KA5	0.45765233
73	PRKAA1	0.45224154
74	KIT	0.43970250
75	PKN1	0.43292311
76	CSNK1D	0.43238097
77	PHKG1	0.41456608
78	PHKG2	0.41456608
79	GRK7	0.41437725
80	CHUK	0.40797400
81	PLK1	0.40633542
82	PASK	0.39193833
83	IRAK1	0.39165184
84	ATR	0.38884322
85	PNCK	0.37601720
86	LYN	0.37283971
87	STK11	0.36158802
88	EPHA3	0.35373990
89	ATM	0.34145338
90	MAPK11	0.34122575
91	PRKACA	0.33568614
92	ITK	0.33359117
93	IRAK4	0.33272653
94	IKBKE	0.31402712
95	PRKCZ	0.31304677
96	OBSCN	0.30692875
97	CSNK1A1	0.30232812
98	EIF2AK2	0.30220840
99	DYRK1A	0.27219142
100	MAP3K7	0.27078110

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Linoleic acid metabolism_Homo sapiens_hsa00591	2.90641380
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.90593820
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.84850357
4	Phototransduction_Homo sapiens_hsa04744	2.73241824
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.70278474
6	Butanoate metabolism_Homo sapiens_hsa00650	2.69380086
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.54034489
8	Selenocompound metabolism_Homo sapiens_hsa00450	2.35680464
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.35268432
10	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.25969842
11	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.21549449
12	Propanoate metabolism_Homo sapiens_hsa00640	2.18538976
13	Protein export_Homo sapiens_hsa03060	2.12402434
14	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.02203389
15	Ether lipid metabolism_Homo sapiens_hsa00565	2.00930822
16	Homologous recombination_Homo sapiens_hsa03440	1.99908314
17	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.97667796
18	RNA polymerase_Homo sapiens_hsa03020	1.91589424
19	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.83338145
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.82473007
21	Fanconi anemia pathway_Homo sapiens_hsa03460	1.79772004
22	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.77356068
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.74048870
24	Regulation of autophagy_Homo sapiens_hsa04140	1.55893907
25	RNA degradation_Homo sapiens_hsa03018	1.54151939
26	Basal transcription factors_Homo sapiens_hsa03022	1.53950043
27	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.43094866
28	Caffeine metabolism_Homo sapiens_hsa00232	1.42014453
29	ABC transporters_Homo sapiens_hsa02010	1.39110760
30	One carbon pool by folate_Homo sapiens_hsa00670	1.38613888
31	Oxidative phosphorylation_Homo sapiens_hsa00190	1.35212664
32	Nicotine addiction_Homo sapiens_hsa05033	1.34351999
33	Non-homologous end-joining_Homo sapiens_hsa03450	1.31606040
34	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.26750788
35	Taste transduction_Homo sapiens_hsa04742	1.22197274
36	Peroxisome_Homo sapiens_hsa04146	1.18679938
37	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.16328310
38	Olfactory transduction_Homo sapiens_hsa04740	1.13746154
39	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.04696981
40	Collecting duct acid secretion_Homo sapiens_hsa04966	0.97119476
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.96079497
42	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.95399501
43	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.93649998
44	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.91853711
45	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.89132456
46	Primary immunodeficiency_Homo sapiens_hsa05340	0.87712719
47	Circadian rhythm_Homo sapiens_hsa04710	0.87516758
48	Morphine addiction_Homo sapiens_hsa05032	0.87264548
49	Parkinsons disease_Homo sapiens_hsa05012	0.81922037
50	Purine metabolism_Homo sapiens_hsa00230	0.78853928
51	Retinol metabolism_Homo sapiens_hsa00830	0.76983845
52	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.76957825
53	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.76817688
54	Lysine degradation_Homo sapiens_hsa00310	0.74334175
55	Insulin secretion_Homo sapiens_hsa04911	0.74296111
56	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.73581669
57	Serotonergic synapse_Homo sapiens_hsa04726	0.73518875
58	Fatty acid metabolism_Homo sapiens_hsa01212	0.73113873
59	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.70519681
60	beta-Alanine metabolism_Homo sapiens_hsa00410	0.68983520
61	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.66972559
62	Chemical carcinogenesis_Homo sapiens_hsa05204	0.66706240
63	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.66376588
64	GABAergic synapse_Homo sapiens_hsa04727	0.66073612
65	Pyrimidine metabolism_Homo sapiens_hsa00240	0.65932781
66	Fatty acid degradation_Homo sapiens_hsa00071	0.63981110
67	Type I diabetes mellitus_Homo sapiens_hsa04940	0.63953057
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.63784588
69	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.58953756
70	Fatty acid elongation_Homo sapiens_hsa00062	0.58300065
71	Metabolic pathways_Homo sapiens_hsa01100	0.55657024
72	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.54885077
73	Glutamatergic synapse_Homo sapiens_hsa04724	0.54882457
74	Huntingtons disease_Homo sapiens_hsa05016	0.53635231
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.52840537
76	Glycerolipid metabolism_Homo sapiens_hsa00561	0.51021311
77	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.50132693
78	Sphingolipid metabolism_Homo sapiens_hsa00600	0.49416420
79	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.49389398
80	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.48441053
81	Fat digestion and absorption_Homo sapiens_hsa04975	0.47571459
82	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.47290056
83	Steroid biosynthesis_Homo sapiens_hsa00100	0.46848687
84	Circadian entrainment_Homo sapiens_hsa04713	0.43861548
85	RNA transport_Homo sapiens_hsa03013	0.43316104
86	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.40752987
87	Sulfur metabolism_Homo sapiens_hsa00920	0.40485656
88	Alzheimers disease_Homo sapiens_hsa05010	0.37301394
89	Salivary secretion_Homo sapiens_hsa04970	0.37141163
90	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.35655326
91	Graft-versus-host disease_Homo sapiens_hsa05332	0.35007872
92	Calcium signaling pathway_Homo sapiens_hsa04020	0.33699793
93	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.33170165
94	Mineral absorption_Homo sapiens_hsa04978	0.32643055
95	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.29967229
96	Long-term depression_Homo sapiens_hsa04730	0.29363259
97	Sulfur relay system_Homo sapiens_hsa04122	0.27549414
98	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.26957240
99	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.26228554
100	Dopaminergic synapse_Homo sapiens_hsa04728	0.25581571

ZNF619

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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