ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	signal peptide processing (GO:0006465)	3.93060212
2	water-soluble vitamin biosynthetic process (GO:0042364)	3.90420544
3	detection of light stimulus involved in visual perception (GO:0050908)	3.83056595
4	detection of light stimulus involved in sensory perception (GO:0050962)	3.83056595
5	behavioral response to nicotine (GO:0035095)	3.81073834
6	indole-containing compound catabolic process (GO:0042436)	3.67057660
7	indolalkylamine catabolic process (GO:0046218)	3.67057660
8	tryptophan catabolic process (GO:0006569)	3.67057660
9	L-fucose catabolic process (GO:0042355)	3.61133251
10	fucose catabolic process (GO:0019317)	3.61133251
11	L-fucose metabolic process (GO:0042354)	3.61133251
12	maturation of 5.8S rRNA (GO:0000460)	3.57990768
13	cellular ketone body metabolic process (GO:0046950)	3.55964301
14	response to pheromone (GO:0019236)	3.54233531
15	DNA double-strand break processing (GO:0000729)	3.54152615
16	axoneme assembly (GO:0035082)	3.52685250
17	rRNA catabolic process (GO:0016075)	3.46448844
18	protein K11-linked deubiquitination (GO:0035871)	3.35524194
19	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.32857651
20	cytochrome complex assembly (GO:0017004)	3.32375688
21	indolalkylamine metabolic process (GO:0006586)	3.31865522
22	DNA deamination (GO:0045006)	3.28483012
23	pseudouridine synthesis (GO:0001522)	3.23633455
24	kynurenine metabolic process (GO:0070189)	3.19555408
25	mannosylation (GO:0097502)	3.18208629
26	ketone body metabolic process (GO:1902224)	3.17884261
27	epithelial cilium movement (GO:0003351)	3.17527672
28	replication fork processing (GO:0031297)	3.15650535
29	synapsis (GO:0007129)	3.14037714
30	respiratory chain complex IV assembly (GO:0008535)	3.13409641
31	protein complex biogenesis (GO:0070271)	3.12636424
32	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.03013423
33	cilium or flagellum-dependent cell motility (GO:0001539)	3.01580407
34	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.99976628
35	regulation of glucokinase activity (GO:0033131)	2.99807911
36	regulation of hexokinase activity (GO:1903299)	2.99807911
37	neural tube formation (GO:0001841)	2.99663306
38	preassembly of GPI anchor in ER membrane (GO:0016254)	2.99325319
39	mitochondrial respiratory chain complex assembly (GO:0033108)	2.98183216
40	tryptophan metabolic process (GO:0006568)	2.97729244
41	multicellular organism reproduction (GO:0032504)	2.96528323
42	cilium movement (GO:0003341)	2.95887261
43	drug catabolic process (GO:0042737)	2.95736091
44	exogenous drug catabolic process (GO:0042738)	2.90148410
45	double-strand break repair via homologous recombination (GO:0000724)	2.90113587
46	regulation of hippo signaling (GO:0035330)	2.88905842
47	recombinational repair (GO:0000725)	2.88583935
48	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.85517746
49	branched-chain amino acid catabolic process (GO:0009083)	2.83555140
50	protein polyglutamylation (GO:0018095)	2.81695870
51	dopamine transport (GO:0015872)	2.81643111
52	piRNA metabolic process (GO:0034587)	2.78976014
53	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.78909760
54	regulation of mitotic spindle checkpoint (GO:1903504)	2.78909760
55	kidney morphogenesis (GO:0060993)	2.76623397
56	protein prenylation (GO:0018342)	2.75854956
57	prenylation (GO:0097354)	2.75854956
58	establishment of protein localization to Golgi (GO:0072600)	2.75540026
59	oxidative demethylation (GO:0070989)	2.74768320
60	rRNA modification (GO:0000154)	2.73358731
61	photoreceptor cell maintenance (GO:0045494)	2.66807890
62	adaptation of signaling pathway (GO:0023058)	2.66802524
63	sperm motility (GO:0030317)	2.66532544
64	rRNA methylation (GO:0031167)	2.66020867
65	retinal cone cell development (GO:0046549)	2.64765642
66	inositol phosphate catabolic process (GO:0071545)	2.63975702
67	regulation of gene silencing by RNA (GO:0060966)	2.63723159
68	regulation of posttranscriptional gene silencing (GO:0060147)	2.63723159
69	regulation of gene silencing by miRNA (GO:0060964)	2.63723159
70	reciprocal DNA recombination (GO:0035825)	2.63284762
71	reciprocal meiotic recombination (GO:0007131)	2.63284762
72	protein-cofactor linkage (GO:0018065)	2.62469400
73	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.62177196
74	positive regulation of fatty acid transport (GO:2000193)	2.61408328
75	intra-S DNA damage checkpoint (GO:0031573)	2.60807228
76	regulation of translation, ncRNA-mediated (GO:0045974)	2.60381328
77	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.60381328
78	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.60381328
79	reflex (GO:0060004)	2.58973203
80	regulation of mesoderm development (GO:2000380)	2.56527690
81	negative regulation of telomere maintenance (GO:0032205)	2.55011441
82	platelet dense granule organization (GO:0060155)	2.54725021
83	sulfation (GO:0051923)	2.53092045
84	cilium organization (GO:0044782)	2.52990520
85	nonmotile primary cilium assembly (GO:0035058)	2.52195138
86	aromatic amino acid family catabolic process (GO:0009074)	2.51381391
87	organic cation transport (GO:0015695)	2.51216229
88	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.51113160
89	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.51113160
90	NADH dehydrogenase complex assembly (GO:0010257)	2.51113160
91	GPI anchor metabolic process (GO:0006505)	2.49922568
92	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.48649361
93	inositol phosphate dephosphorylation (GO:0046855)	2.48649361
94	nucleotide transmembrane transport (GO:1901679)	2.47486152
95	indole-containing compound metabolic process (GO:0042430)	2.47439804
96	nephron tubule morphogenesis (GO:0072078)	2.45691064
97	nephron epithelium morphogenesis (GO:0072088)	2.45691064
98	rhodopsin mediated signaling pathway (GO:0016056)	2.43160747
99	cilium assembly (GO:0042384)	2.41964389
100	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.41246142

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.59272783
2	VDR_22108803_ChIP-Seq_LS180_Human	3.55864805
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.40011712
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.12598188
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.99879731
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.54711450
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.49875878
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.21374899
9	FUS_26573619_Chip-Seq_HEK293_Human	2.20652845
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.19169416
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.17291822
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.13659945
13	EWS_26573619_Chip-Seq_HEK293_Human	2.13310003
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.10528648
15	ER_23166858_ChIP-Seq_MCF-7_Human	2.05328287
16	TAF15_26573619_Chip-Seq_HEK293_Human	2.04369274
17	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.03130286
18	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.02745286
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.98936405
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.96615341
21	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.93949303
22	P300_19829295_ChIP-Seq_ESCs_Human	1.91620433
23	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.89237813
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.87526344
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.85485870
26	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.65200799
27	STAT3_23295773_ChIP-Seq_U87_Human	1.64942636
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.64441691
29	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.60540775
30	IRF1_19129219_ChIP-ChIP_H3396_Human	1.57369502
31	EZH2_22144423_ChIP-Seq_EOC_Human	1.56990503
32	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.55706165
33	TP53_22573176_ChIP-Seq_HFKS_Human	1.54091073
34	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.52238002
35	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50040869
36	MYC_18940864_ChIP-ChIP_HL60_Human	1.47871589
37	SMAD4_21799915_ChIP-Seq_A2780_Human	1.45826229
38	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.45513625
39	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.45358681
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.45272415
41	TCF4_23295773_ChIP-Seq_U87_Human	1.45257734
42	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.45235254
43	CBP_20019798_ChIP-Seq_JUKART_Human	1.45235254
44	BCAT_22108803_ChIP-Seq_LS180_Human	1.44926009
45	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.44768205
46	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.41924748
47	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.37363484
48	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.37363484
49	TCF4_22108803_ChIP-Seq_LS180_Human	1.35958282
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.35479304
51	NANOG_19829295_ChIP-Seq_ESCs_Human	1.35441270
52	SOX2_19829295_ChIP-Seq_ESCs_Human	1.35441270
53	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.33932033
54	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.33541388
55	AR_25329375_ChIP-Seq_VCAP_Human	1.32962323
56	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.32697494
57	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.29936545
58	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.29927848
59	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.29927848
60	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.29388347
61	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.28938842
62	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24736745
63	VDR_23849224_ChIP-Seq_CD4+_Human	1.22317170
64	* RUNX2_22187159_ChIP-Seq_PCA_Human	1.20765951
65	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.20597207
66	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.19407087
67	* AR_21572438_ChIP-Seq_LNCaP_Human	1.19400183
68	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.18893003
69	AR_20517297_ChIP-Seq_VCAP_Human	1.18771639
70	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.14196100
71	ELK1_19687146_ChIP-ChIP_HELA_Human	1.13879558
72	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.12453825
73	HOXB7_26014856_ChIP-Seq_BT474_Human	1.11998703
74	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.11587864
75	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.10875497
76	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.10517870
77	NCOR_22424771_ChIP-Seq_293T_Human	1.10460469
78	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.10264127
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.10139752
80	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.09257712
81	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.06678078
82	TP53_16413492_ChIP-PET_HCT116_Human	1.04714529
83	CDX2_22108803_ChIP-Seq_LS180_Human	1.04498413
84	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.04290424
85	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.03846002
86	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.02164732
87	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.00634651
88	PHF8_20622853_ChIP-Seq_HELA_Human	1.00199689
89	P53_22387025_ChIP-Seq_ESCs_Mouse	0.99377961
90	RNF2_27304074_Chip-Seq_NSC_Mouse	0.99244219
91	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.98806080
92	ETV1_20927104_ChIP-Seq_GIST48_Human	0.98614839
93	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.97801768
94	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.97536571
95	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.97525485
96	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.97153155
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.96788840
98	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.96644269
99	ERA_21632823_ChIP-Seq_H3396_Human	0.96519066
100	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.96313533

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	4.54420752
2	MP0008877_abnormal_DNA_methylation	3.37084968
3	MP0008875_abnormal_xenobiotic_pharmacok	2.54893328
4	MP0003646_muscle_fatigue	2.52226445
5	MP0005551_abnormal_eye_electrophysiolog	2.49203597
6	MP0003787_abnormal_imprinting	2.37632854
7	MP0000569_abnormal_digit_pigmentation	2.28454249
8	MP0005645_abnormal_hypothalamus_physiol	2.16086474
9	MP0002102_abnormal_ear_morphology	2.14854728
10	MP0006072_abnormal_retinal_apoptosis	2.11926041
11	MP0006292_abnormal_olfactory_placode	2.08206996
12	MP0001984_abnormal_olfaction	2.07011566
13	MP0000372_irregular_coat_pigmentation	1.99860123
14	MP0009046_muscle_twitch	1.98294977
15	MP0004043_abnormal_pH_regulation	1.98050300
16	MP0005646_abnormal_pituitary_gland	1.91833550
17	MP0008058_abnormal_DNA_repair	1.86267329
18	MP0002837_dystrophic_cardiac_calcinosis	1.83026763
19	MP0002876_abnormal_thyroid_physiology	1.69278847
20	MP0002638_abnormal_pupillary_reflex	1.68100153
21	MP0005253_abnormal_eye_physiology	1.67989301
22	MP0008872_abnormal_physiological_respon	1.67162745
23	MP0002160_abnormal_reproductive_system	1.62069439
24	MP0005379_endocrine/exocrine_gland_phen	1.60470623
25	MP0002138_abnormal_hepatobiliary_system	1.59627268
26	MP0001968_abnormal_touch/_nociception	1.59109769
27	MP0004133_heterotaxia	1.58890033
28	MP0000383_abnormal_hair_follicle	1.57822452
29	MP0003718_maternal_effect	1.57319265
30	MP0002938_white_spotting	1.53255240
31	MP0000427_abnormal_hair_cycle	1.52755018
32	MP0003880_abnormal_central_pattern	1.47311218
33	MP0002928_abnormal_bile_duct	1.41664442
34	MP0002736_abnormal_nociception_after	1.39057507
35	MP0005174_abnormal_tail_pigmentation	1.38340253
36	MP0008995_early_reproductive_senescence	1.37249139
37	MP0004142_abnormal_muscle_tone	1.35346065
38	MP0003283_abnormal_digestive_organ	1.34670962
39	MP0003011_delayed_dark_adaptation	1.33640618
40	MP0005389_reproductive_system_phenotype	1.33485600
41	MP0005332_abnormal_amino_acid	1.32223888
42	MP0003252_abnormal_bile_duct	1.31240697
43	MP0002163_abnormal_gland_morphology	1.30898079
44	MP0005410_abnormal_fertilization	1.30669543
45	MP0004147_increased_porphyrin_level	1.30511508
46	MP0000631_abnormal_neuroendocrine_gland	1.28594111
47	MP0009745_abnormal_behavioral_response	1.27175912
48	MP0001501_abnormal_sleep_pattern	1.23987052
49	MP0003890_abnormal_embryonic-extraembry	1.23344048
50	MP0001986_abnormal_taste_sensitivity	1.22365473
51	MP0003122_maternal_imprinting	1.20289204
52	MP0004145_abnormal_muscle_electrophysio	1.19029101
53	MP0002234_abnormal_pharynx_morphology	1.18943547
54	MP0003121_genomic_imprinting	1.14421965
55	MP0003136_yellow_coat_color	1.12241081
56	MP0008057_abnormal_DNA_replication	1.10586431
57	MP0001764_abnormal_homeostasis	1.10077123
58	MP0010678_abnormal_skin_adnexa	1.09408293
59	MP0004885_abnormal_endolymph	1.05896536
60	MP0005084_abnormal_gallbladder_morpholo	1.05626293
61	MP0001485_abnormal_pinna_reflex	1.03341922
62	MP0002272_abnormal_nervous_system	1.02761685
63	MP0001486_abnormal_startle_reflex	1.02290911
64	MP0001929_abnormal_gametogenesis	1.01151899
65	MP0002693_abnormal_pancreas_physiology	1.00350209
66	MP0003698_abnormal_male_reproductive	1.00015563
67	MP0001919_abnormal_reproductive_system	0.99684530
68	MP0002557_abnormal_social/conspecific_i	0.98994161
69	MP0006035_abnormal_mitochondrial_morpho	0.96757447
70	MP0001661_extended_life_span	0.95807518
71	MP0002254_reproductive_system_inflammat	0.94343111
72	MP0003119_abnormal_digestive_system	0.94131806
73	MP0005075_abnormal_melanosome_morpholog	0.92465113
74	MP0005377_hearing/vestibular/ear_phenot	0.92152247
75	MP0003878_abnormal_ear_physiology	0.92152247
76	MP0004924_abnormal_behavior	0.91534383
77	MP0005386_behavior/neurological_phenoty	0.91534383
78	MP0010329_abnormal_lipoprotein_level	0.90406815
79	MP0005085_abnormal_gallbladder_physiolo	0.89202325
80	MP0001502_abnormal_circadian_rhythm	0.88383265
81	MP0001944_abnormal_pancreas_morphology	0.88216660
82	MP0010094_abnormal_chromosome_stability	0.87720476
83	MP0005360_urolithiasis	0.87033347
84	MP0008961_abnormal_basal_metabolism	0.85526099
85	MP0006276_abnormal_autonomic_nervous	0.85268048
86	MP0005395_other_phenotype	0.83404308
87	MP0009697_abnormal_copulation	0.83330354
88	MP0003786_premature_aging	0.83007319
89	MP0002572_abnormal_emotion/affect_behav	0.81528772
90	MP0005195_abnormal_posterior_eye	0.81126027
91	MP0001529_abnormal_vocalization	0.80103312
92	MP0003937_abnormal_limbs/digits/tail_de	0.78623621
93	MP0002210_abnormal_sex_determination	0.78037830
94	MP0005310_abnormal_salivary_gland	0.77087925
95	MP0009780_abnormal_chondrocyte_physiolo	0.76283114
96	MP0000653_abnormal_sex_gland	0.76279199
97	MP0002751_abnormal_autonomic_nervous	0.75834282
98	MP0002735_abnormal_chemical_nociception	0.75482711
99	MP0002064_seizures	0.74494705
100	MP0002229_neurodegeneration	0.73035588

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.09803810
2	Pancreatic fibrosis (HP:0100732)	3.77890762
3	True hermaphroditism (HP:0010459)	3.63436438
4	Congenital stationary night blindness (HP:0007642)	3.54941646
5	Abnormal rod and cone electroretinograms (HP:0008323)	3.36058358
6	Nephronophthisis (HP:0000090)	3.30249393
7	Hypothermia (HP:0002045)	3.29897928
8	Abnormality of midbrain morphology (HP:0002418)	3.24101461
9	Molar tooth sign on MRI (HP:0002419)	3.24101461
10	Attenuation of retinal blood vessels (HP:0007843)	3.15076124
11	Medial flaring of the eyebrow (HP:0010747)	3.11598594
12	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.08944275
13	Abnormality of the renal cortex (HP:0011035)	2.97335855
14	Pendular nystagmus (HP:0012043)	2.82574409
15	Abnormality of the renal medulla (HP:0100957)	2.81877581
16	Chronic hepatic failure (HP:0100626)	2.80928790
17	Type II lissencephaly (HP:0007260)	2.78694820
18	Abolished electroretinogram (ERG) (HP:0000550)	2.78606621
19	Bile duct proliferation (HP:0001408)	2.64177572
20	Abnormal biliary tract physiology (HP:0012439)	2.64177572
21	Cystic liver disease (HP:0006706)	2.54660519
22	Decreased central vision (HP:0007663)	2.53258683
23	Abnormal drinking behavior (HP:0030082)	2.52673656
24	Polydipsia (HP:0001959)	2.52673656
25	Abnormality of alanine metabolism (HP:0010916)	2.46829116
26	Hyperalaninemia (HP:0003348)	2.46829116
27	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.46829116
28	Renal cortical cysts (HP:0000803)	2.43552277
29	Tubular atrophy (HP:0000092)	2.42367255
30	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.42002622
31	Congenital primary aphakia (HP:0007707)	2.38549858
32	Bony spicule pigmentary retinopathy (HP:0007737)	2.37853477
33	Gait imbalance (HP:0002141)	2.36440648
34	Colon cancer (HP:0003003)	2.33977923
35	Abnormality of the labia minora (HP:0012880)	2.32548343
36	Large for gestational age (HP:0001520)	2.31275956
37	Hyperventilation (HP:0002883)	2.30351725
38	Gaze-evoked nystagmus (HP:0000640)	2.30155473
39	Progressive cerebellar ataxia (HP:0002073)	2.26479419
40	Increased corneal curvature (HP:0100692)	2.26426335
41	Keratoconus (HP:0000563)	2.26426335
42	Cerebellar dysplasia (HP:0007033)	2.23110293
43	Genital tract atresia (HP:0001827)	2.22334117
44	Hypoplasia of the pons (HP:0012110)	2.21113445
45	Absent/shortened dynein arms (HP:0200106)	2.19532850
46	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.19532850
47	Nephrogenic diabetes insipidus (HP:0009806)	2.17305347
48	Stomach cancer (HP:0012126)	2.13707270
49	Genetic anticipation (HP:0003743)	2.13319382
50	Abnormality of the pons (HP:0007361)	2.12988268
51	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.10998419
52	Sclerocornea (HP:0000647)	2.10010155
53	Vaginal atresia (HP:0000148)	2.09612739
54	Methylmalonic acidemia (HP:0002912)	2.07884740
55	Ketoacidosis (HP:0001993)	2.05748997
56	Chromsome breakage (HP:0040012)	2.02297389
57	Furrowed tongue (HP:0000221)	2.01890092
58	Clumsiness (HP:0002312)	2.01728683
59	Inability to walk (HP:0002540)	2.01665116
60	Anencephaly (HP:0002323)	1.98883412
61	Decreased circulating renin level (HP:0003351)	1.98691204
62	Male pseudohermaphroditism (HP:0000037)	1.96566268
63	Poor coordination (HP:0002370)	1.95476607
64	Hyperglycinemia (HP:0002154)	1.95214395
65	Chronic otitis media (HP:0000389)	1.95067822
66	Ketosis (HP:0001946)	1.94412865
67	Postaxial foot polydactyly (HP:0001830)	1.93982720
68	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.92483050
69	Progressive inability to walk (HP:0002505)	1.92208319
70	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.90527874
71	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.87606345
72	Lissencephaly (HP:0001339)	1.87194077
73	Polyuria (HP:0000103)	1.87126743
74	Methylmalonic aciduria (HP:0012120)	1.86971933
75	Abnormality of chromosome stability (HP:0003220)	1.86698684
76	Congenital hepatic fibrosis (HP:0002612)	1.83520413
77	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.83438604
78	Constricted visual fields (HP:0001133)	1.82771103
79	Abnormal ciliary motility (HP:0012262)	1.80371639
80	Abnormal respiratory epithelium morphology (HP:0012253)	1.79457685
81	Abnormal respiratory motile cilium morphology (HP:0005938)	1.79457685
82	Hyperglycinuria (HP:0003108)	1.78764026
83	Hypomagnesemia (HP:0002917)	1.78094004
84	Intestinal atresia (HP:0011100)	1.78086555
85	Abnormality of the ileum (HP:0001549)	1.78005567
86	Supernumerary spleens (HP:0009799)	1.77252514
87	Increased CSF lactate (HP:0002490)	1.76772235
88	Broad-based gait (HP:0002136)	1.76610710
89	Abnormality of glycine metabolism (HP:0010895)	1.76548716
90	Abnormality of serine family amino acid metabolism (HP:0010894)	1.76548716
91	Severe muscular hypotonia (HP:0006829)	1.76287019
92	Asplenia (HP:0001746)	1.74364038
93	Bronchiectasis (HP:0002110)	1.72461814
94	Concave nail (HP:0001598)	1.71905936
95	Chronic bronchitis (HP:0004469)	1.69756013
96	Disproportionate short-trunk short stature (HP:0003521)	1.69516290
97	Absent thumb (HP:0009777)	1.68981513
98	Patellar aplasia (HP:0006443)	1.68158776
99	Lipid accumulation in hepatocytes (HP:0006561)	1.68088667
100	Meckel diverticulum (HP:0002245)	1.67448434

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.86963751
2	BMPR1B	3.65357653
3	TLK1	2.67127703
4	WNK3	2.63787322
5	ZAK	2.60398719
6	ADRBK2	2.55749027
7	ACVR1B	2.50971919
8	NUAK1	2.47627775
9	MAP4K2	2.43121910
10	GRK1	2.34462124
11	TNIK	2.24581712
12	MKNK2	2.15129631
13	TAOK3	1.92876686
14	WNK4	1.90545361
15	FGFR2	1.86244515
16	PINK1	1.71398451
17	MAP3K4	1.68400631
18	TRIM28	1.65072248
19	MST4	1.61474145
20	INSRR	1.47975061
21	CASK	1.40963786
22	PLK4	1.34608245
23	STK38L	1.26426174
24	OXSR1	1.24266973
25	PRKCI	1.23662610
26	TGFBR1	1.21212609
27	STK39	1.18044667
28	EIF2AK3	1.17117189
29	NME1	1.14419647
30	PRKCG	1.07835593
31	PRKCE	1.06713595
32	TSSK6	0.99963962
33	MAPK13	0.98257452
34	MAPK15	0.97869480
35	PAK3	0.91438779
36	MKNK1	0.89953038
37	TXK	0.89168802
38	BUB1	0.89080999
39	IKBKB	0.87936682
40	NTRK3	0.87866252
41	MUSK	0.87846917
42	VRK1	0.87044379
43	NLK	0.82684451
44	MAP2K7	0.82174690
45	DAPK2	0.81518060
46	ADRBK1	0.80809743
47	PLK3	0.80745890
48	BCR	0.77046002
49	PIK3CA	0.75422393
50	PNCK	0.74635940
51	STK3	0.73367911
52	ERBB3	0.72788636
53	PASK	0.69366464
54	FLT3	0.68208536
55	CSNK1G1	0.67287606
56	CHUK	0.66805062
57	PHKG2	0.61799725
58	PHKG1	0.61799725
59	TEC	0.59877751
60	PRKCQ	0.59578881
61	EIF2AK2	0.58935552
62	PLK1	0.58828104
63	MAPKAPK3	0.58020949
64	ATR	0.57905724
65	PLK2	0.57773824
66	BMPR2	0.57523316
67	FER	0.53042708
68	MAP2K6	0.52950792
69	MAP2K2	0.52941060
70	MAP3K13	0.51712251
71	CSNK1A1L	0.51548367
72	CSNK1A1	0.51428867
73	RPS6KA5	0.50840030
74	BRSK2	0.49705490
75	MAP3K7	0.47827439
76	ATM	0.46285978
77	PRKAA2	0.46190675
78	CSNK1G2	0.46033342
79	PRKCZ	0.45646492
80	DYRK2	0.45626078
81	CSNK1G3	0.44903857
82	TNK2	0.39140396
83	STK16	0.38021476
84	OBSCN	0.37870931
85	CSNK1D	0.37523932
86	NEK1	0.36775300
87	PRKAA1	0.36508413
88	PRKACA	0.35283335
89	IRAK1	0.35078294
90	CDK8	0.34500092
91	FGFR1	0.34301378
92	ITK	0.33949356
93	TRPM7	0.32365155
94	PIK3CG	0.32311165
95	CDC7	0.31922392
96	CAMK1	0.30019994
97	CAMK2A	0.29830683
98	MAP4K1	0.28316847
99	CSNK1E	0.27542392
100	BCKDK	0.27398911

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.62704358
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.60259430
3	Phototransduction_Homo sapiens_hsa04744	2.39349922
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.34497033
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.17171755
6	Butanoate metabolism_Homo sapiens_hsa00650	2.15004537
7	RNA polymerase_Homo sapiens_hsa03020	2.12296649
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.10714514
9	Nitrogen metabolism_Homo sapiens_hsa00910	2.06932236
10	Protein export_Homo sapiens_hsa03060	2.04302535
11	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.99851201
12	Selenocompound metabolism_Homo sapiens_hsa00450	1.99154329
13	Homologous recombination_Homo sapiens_hsa03440	1.96766749
14	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.93164403
15	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.89014772
16	Basal transcription factors_Homo sapiens_hsa03022	1.80322004
17	RNA degradation_Homo sapiens_hsa03018	1.76612281
18	Caffeine metabolism_Homo sapiens_hsa00232	1.76159567
19	One carbon pool by folate_Homo sapiens_hsa00670	1.76057890
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.72825368
21	Fanconi anemia pathway_Homo sapiens_hsa03460	1.72061595
22	Non-homologous end-joining_Homo sapiens_hsa03450	1.62445576
23	Propanoate metabolism_Homo sapiens_hsa00640	1.58755376
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.53682587
25	Oxidative phosphorylation_Homo sapiens_hsa00190	1.52430505
26	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.51777877
27	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.51673306
28	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.50236177
29	Ether lipid metabolism_Homo sapiens_hsa00565	1.49370059
30	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.45358874
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.44610339
32	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.43688581
33	Retinol metabolism_Homo sapiens_hsa00830	1.42957759
34	Olfactory transduction_Homo sapiens_hsa04740	1.42852573
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.39463306
36	Peroxisome_Homo sapiens_hsa04146	1.38636755
37	ABC transporters_Homo sapiens_hsa02010	1.37371240
38	Proteasome_Homo sapiens_hsa03050	1.34293732
39	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.32323157
40	Nicotine addiction_Homo sapiens_hsa05033	1.26534784
41	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.24968225
42	Taste transduction_Homo sapiens_hsa04742	1.22248499
43	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.18466969
44	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.13731390
45	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.10047717
46	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.05536076
47	Parkinsons disease_Homo sapiens_hsa05012	0.96815776
48	Insulin secretion_Homo sapiens_hsa04911	0.96779470
49	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.96734484
50	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.95642192
51	Purine metabolism_Homo sapiens_hsa00230	0.94394701
52	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.93557509
53	Histidine metabolism_Homo sapiens_hsa00340	0.91128979
54	Fatty acid degradation_Homo sapiens_hsa00071	0.89034469
55	Huntingtons disease_Homo sapiens_hsa05016	0.87314610
56	beta-Alanine metabolism_Homo sapiens_hsa00410	0.85545528
57	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.85201438
58	Lysine degradation_Homo sapiens_hsa00310	0.83772717
59	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82186522
60	Glycerolipid metabolism_Homo sapiens_hsa00561	0.81986864
61	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.79497092
62	Regulation of autophagy_Homo sapiens_hsa04140	0.78662066
63	Pyrimidine metabolism_Homo sapiens_hsa00240	0.77251096
64	Metabolic pathways_Homo sapiens_hsa01100	0.73494138
65	Fat digestion and absorption_Homo sapiens_hsa04975	0.73385492
66	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73289811
67	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.72635666
68	Morphine addiction_Homo sapiens_hsa05032	0.72630456
69	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.72619639
70	Serotonergic synapse_Homo sapiens_hsa04726	0.70640352
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.68836158
72	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.68540961
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.66378605
74	Fatty acid metabolism_Homo sapiens_hsa01212	0.65556410
75	Sulfur relay system_Homo sapiens_hsa04122	0.63068942
76	Tyrosine metabolism_Homo sapiens_hsa00350	0.62718598
77	Collecting duct acid secretion_Homo sapiens_hsa04966	0.61652208
78	Circadian rhythm_Homo sapiens_hsa04710	0.61362573
79	RNA transport_Homo sapiens_hsa03013	0.59692650
80	Steroid biosynthesis_Homo sapiens_hsa00100	0.58818826
81	Circadian entrainment_Homo sapiens_hsa04713	0.58083250
82	Salivary secretion_Homo sapiens_hsa04970	0.54839489
83	Primary immunodeficiency_Homo sapiens_hsa05340	0.51748958
84	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.51163926
85	Calcium signaling pathway_Homo sapiens_hsa04020	0.50827253
86	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.49956504
87	Alzheimers disease_Homo sapiens_hsa05010	0.49359201
88	Glutamatergic synapse_Homo sapiens_hsa04724	0.48362477
89	Mismatch repair_Homo sapiens_hsa03430	0.47529258
90	GABAergic synapse_Homo sapiens_hsa04727	0.47241355
91	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.47228205
92	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.46563351
93	Sphingolipid metabolism_Homo sapiens_hsa00600	0.45050904
94	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.44327522
95	Nucleotide excision repair_Homo sapiens_hsa03420	0.42165951
96	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.41678507
97	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.39864939
98	Glutathione metabolism_Homo sapiens_hsa00480	0.35138735
99	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.33687331
100	Cardiac muscle contraction_Homo sapiens_hsa04260	0.32544631

ALOX12P2

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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