ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	water-soluble vitamin biosynthetic process (GO:0042364)	4.89312328
2	respiratory chain complex IV assembly (GO:0008535)	4.74769361
3	cellular ketone body metabolic process (GO:0046950)	4.55953046
4	DNA deamination (GO:0045006)	4.35504050
5	inositol phosphate catabolic process (GO:0071545)	4.27515142
6	cytochrome complex assembly (GO:0017004)	4.23110227
7	ketone body metabolic process (GO:1902224)	4.04843970
8	response to pheromone (GO:0019236)	4.03575411
9	cullin deneddylation (GO:0010388)	3.97287212
10	lactate metabolic process (GO:0006089)	3.91706982
11	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.88525790
12	inositol phosphate dephosphorylation (GO:0046855)	3.88525790
13	regulation of hexokinase activity (GO:1903299)	3.87105047
14	regulation of glucokinase activity (GO:0033131)	3.87105047
15	protein deneddylation (GO:0000338)	3.80461059
16	L-fucose catabolic process (GO:0042355)	3.75615182
17	fucose catabolic process (GO:0019317)	3.75615182
18	L-fucose metabolic process (GO:0042354)	3.75615182
19	DNA double-strand break processing (GO:0000729)	3.45982745
20	proteasome assembly (GO:0043248)	3.42696109
21	protein localization to cilium (GO:0061512)	3.41780904
22	protein complex biogenesis (GO:0070271)	3.37469523
23	platelet dense granule organization (GO:0060155)	3.37426948
24	polyol catabolic process (GO:0046174)	3.35907197
25	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.29280649
26	signal peptide processing (GO:0006465)	3.27223748
27	preassembly of GPI anchor in ER membrane (GO:0016254)	3.27085952
28	kynurenine metabolic process (GO:0070189)	3.13449238
29	mitochondrial respiratory chain complex assembly (GO:0033108)	3.12765246
30	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.12747785
31	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.09907911
32	mannosylation (GO:0097502)	3.07985757
33	S-adenosylmethionine metabolic process (GO:0046500)	3.07575272
34	protein-cofactor linkage (GO:0018065)	3.07473814
35	regulation of cilium movement (GO:0003352)	3.05784895
36	maturation of 5.8S rRNA (GO:0000460)	2.95890508
37	branched-chain amino acid catabolic process (GO:0009083)	2.93240099
38	amino acid salvage (GO:0043102)	2.86649811
39	L-methionine salvage (GO:0071267)	2.86649811
40	L-methionine biosynthetic process (GO:0071265)	2.86649811
41	C-terminal protein lipidation (GO:0006501)	2.81673158
42	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.81530391
43	indole-containing compound catabolic process (GO:0042436)	2.80535510
44	indolalkylamine catabolic process (GO:0046218)	2.80535510
45	tryptophan catabolic process (GO:0006569)	2.80535510
46	synapsis (GO:0007129)	2.80466579
47	glycerophospholipid catabolic process (GO:0046475)	2.79271887
48	peptidyl-cysteine modification (GO:0018198)	2.78321877
49	negative regulation of neurological system process (GO:0031645)	2.75962902
50	glycosphingolipid biosynthetic process (GO:0006688)	2.74207936
51	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.68884253
52	protein neddylation (GO:0045116)	2.67520337
53	GPI anchor metabolic process (GO:0006505)	2.66219999
54	C-terminal protein amino acid modification (GO:0018410)	2.64431502
55	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.64420048
56	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.64420048
57	isotype switching (GO:0045190)	2.64420048
58	kidney morphogenesis (GO:0060993)	2.59800995
59	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.59032051
60	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.58475602
61	NADH dehydrogenase complex assembly (GO:0010257)	2.58475602
62	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.58475602
63	negative regulation of membrane potential (GO:0045837)	2.58252636
64	cilium morphogenesis (GO:0060271)	2.57311618
65	positive regulation of mitochondrial fission (GO:0090141)	2.55758659
66	adaptation of signaling pathway (GO:0023058)	2.55105920
67	pseudouridine synthesis (GO:0001522)	2.54778971
68	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.53961288
69	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.53772938
70	negative regulation of execution phase of apoptosis (GO:1900118)	2.51985891
71	protein K6-linked ubiquitination (GO:0085020)	2.50335806
72	positive regulation of glycolytic process (GO:0045821)	2.50216648
73	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.49963129
74	proline transport (GO:0015824)	2.49945123
75	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	2.48850357
76	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	2.48850357
77	positive regulation of mitotic sister chromatid separation (GO:1901970)	2.48850357
78	protein prenylation (GO:0018342)	2.47263157
79	prenylation (GO:0097354)	2.47263157
80	inositol phosphate-mediated signaling (GO:0048016)	2.45396856
81	xenobiotic catabolic process (GO:0042178)	2.45283663
82	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.44986977
83	adenosine metabolic process (GO:0046085)	2.44189475
84	nucleotide transmembrane transport (GO:1901679)	2.42821429
85	positive regulation of histone H3-K4 methylation (GO:0051571)	2.42605425
86	short-chain fatty acid metabolic process (GO:0046459)	2.42343057
87	aldehyde catabolic process (GO:0046185)	2.41507071
88	parental behavior (GO:0060746)	2.41431263
89	aromatic amino acid family catabolic process (GO:0009074)	2.41043834
90	piRNA metabolic process (GO:0034587)	2.39585748
91	intraciliary transport (GO:0042073)	2.37579489
92	glycolipid biosynthetic process (GO:0009247)	2.37568874
93	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	2.37469177
94	reflex (GO:0060004)	2.35381212
95	indolalkylamine metabolic process (GO:0006586)	2.34658241
96	GPI anchor biosynthetic process (GO:0006506)	2.34594320
97	dopamine transport (GO:0015872)	2.33972315
98	tryptophan metabolic process (GO:0006568)	2.33895467
99	insulin secretion (GO:0030073)	2.33058100
100	peptidyl-histidine modification (GO:0018202)	2.32180715

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.44644402
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.23637617
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.21504300
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.91269604
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.79754380
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.69939652
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.64903460
8	VDR_22108803_ChIP-Seq_LS180_Human	2.62061850
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.47046537
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.37324267
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.26564460
12	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.12528745
13	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.12116817
14	EWS_26573619_Chip-Seq_HEK293_Human	2.12042408
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.07783961
16	FUS_26573619_Chip-Seq_HEK293_Human	2.04930237
17	P300_19829295_ChIP-Seq_ESCs_Human	2.04530469
18	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.98688284
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.97012636
20	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.89138880
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.88287061
22	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.84730251
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.80952848
24	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.75779272
25	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.75640474
26	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.70132969
27	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.65325246
28	CBP_20019798_ChIP-Seq_JUKART_Human	1.63618472
29	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.63618472
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.63151474
31	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.56552958
32	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.56451276
33	TP53_22573176_ChIP-Seq_HFKS_Human	1.56047731
34	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.55203520
35	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.54810494
36	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.52801403
37	VDR_23849224_ChIP-Seq_CD4+_Human	1.51857342
38	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.49614540
39	SMAD4_21799915_ChIP-Seq_A2780_Human	1.48333113
40	ER_23166858_ChIP-Seq_MCF-7_Human	1.48201465
41	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.45344090
42	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.42307189
43	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.40168886
44	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.39846822
45	AR_25329375_ChIP-Seq_VCAP_Human	1.39586320
46	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.38339815
47	BCAT_22108803_ChIP-Seq_LS180_Human	1.38023615
48	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.35502912
49	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.35233877
50	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.34078064
51	NANOG_19829295_ChIP-Seq_ESCs_Human	1.33836781
52	SOX2_19829295_ChIP-Seq_ESCs_Human	1.33836781
53	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.33637500
54	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.31956275
55	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.30516471
56	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.28511934
57	MYC_18940864_ChIP-ChIP_HL60_Human	1.27421549
58	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.27245678
59	CDX2_22108803_ChIP-Seq_LS180_Human	1.27228968
60	STAT3_23295773_ChIP-Seq_U87_Human	1.24750248
61	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.24644744
62	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.23998126
63	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.23998126
64	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.23917775
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23855186
66	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23358324
67	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.23227136
68	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.22692233
69	TCF4_22108803_ChIP-Seq_LS180_Human	1.22275460
70	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.21465684
71	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.21385807
72	P53_22387025_ChIP-Seq_ESCs_Mouse	1.20510466
73	IRF1_19129219_ChIP-ChIP_H3396_Human	1.20289753
74	HTT_18923047_ChIP-ChIP_STHdh_Human	1.19773523
75	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.19402036
76	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.19388913
77	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.18818533
78	FOXP3_21729870_ChIP-Seq_TREG_Human	1.17776699
79	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.17007705
80	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.16682448
81	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.15928634
82	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.15294365
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.15008255
84	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.14414910
85	TCF4_23295773_ChIP-Seq_U87_Human	1.13224935
86	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.12214901
87	AR_20517297_ChIP-Seq_VCAP_Human	1.10273216
88	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.08455214
89	HOXB7_26014856_ChIP-Seq_BT474_Human	1.07962754
90	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.06720943
91	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.06061845
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.05984970
93	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.05479375
94	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.04571944
95	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.04202863
96	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.04003647
97	P300_18555785_Chip-Seq_ESCs_Mouse	1.02999355
98	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.02568016
99	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.02304456
100	NCOR_22424771_ChIP-Seq_293T_Human	1.01310307

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009780_abnormal_chondrocyte_physiolo	4.15986499
2	MP0003195_calcinosis	3.45109716
3	MP0002837_dystrophic_cardiac_calcinosis	3.34417351
4	MP0008877_abnormal_DNA_methylation	3.06079780
5	MP0005379_endocrine/exocrine_gland_phen	2.88774896
6	MP0001984_abnormal_olfaction	2.58532310
7	MP0006072_abnormal_retinal_apoptosis	2.42768347
8	MP0008875_abnormal_xenobiotic_pharmacok	2.31564483
9	MP0000013_abnormal_adipose_tissue	2.30904725
10	MP0005646_abnormal_pituitary_gland	2.21551131
11	MP0005645_abnormal_hypothalamus_physiol	2.18874494
12	MP0002163_abnormal_gland_morphology	2.16650749
13	MP0001529_abnormal_vocalization	2.05318866
14	MP0006054_spinal_hemorrhage	2.04489434
15	MP0002909_abnormal_adrenal_gland	2.00386134
16	MP0008058_abnormal_DNA_repair	1.81428757
17	MP0009046_muscle_twitch	1.78717507
18	MP0005253_abnormal_eye_physiology	1.77650630
19	MP0010234_abnormal_vibrissa_follicle	1.76156020
20	MP0002876_abnormal_thyroid_physiology	1.74125872
21	MP0010386_abnormal_urinary_bladder	1.72399957
22	MP0002102_abnormal_ear_morphology	1.70916562
23	MP0003787_abnormal_imprinting	1.66182232
24	MP0002234_abnormal_pharynx_morphology	1.65773831
25	MP0000427_abnormal_hair_cycle	1.65383805
26	MP0008872_abnormal_physiological_respon	1.65357253
27	MP0001968_abnormal_touch/_nociception	1.61784625
28	MP0004147_increased_porphyrin_level	1.57789413
29	MP0005551_abnormal_eye_electrophysiolog	1.55413600
30	MP0005084_abnormal_gallbladder_morpholo	1.54350321
31	MP0004215_abnormal_myocardial_fiber	1.53053755
32	MP0001764_abnormal_homeostasis	1.52970111
33	MP0000372_irregular_coat_pigmentation	1.51370397
34	MP0003786_premature_aging	1.51101500
35	MP0000516_abnormal_urinary_system	1.46005946
36	MP0005367_renal/urinary_system_phenotyp	1.46005946
37	MP0001501_abnormal_sleep_pattern	1.43901296
38	MP0005220_abnormal_exocrine_pancreas	1.42452017
39	MP0001661_extended_life_span	1.41012207
40	MP0002693_abnormal_pancreas_physiology	1.32678758
41	MP0006036_abnormal_mitochondrial_physio	1.31464016
42	MP0003252_abnormal_bile_duct	1.30513861
43	MP0001944_abnormal_pancreas_morphology	1.30244980
44	MP0002736_abnormal_nociception_after	1.28520853
45	MP0005332_abnormal_amino_acid	1.28356720
46	MP0009745_abnormal_behavioral_response	1.27851908
47	MP0002272_abnormal_nervous_system	1.27625018
48	MP0005389_reproductive_system_phenotype	1.26640514
49	MP0004133_heterotaxia	1.25985971
50	MP0003122_maternal_imprinting	1.24272215
51	MP0004043_abnormal_pH_regulation	1.22645578
52	MP0002751_abnormal_autonomic_nervous	1.20835227
53	MP0008789_abnormal_olfactory_epithelium	1.20319749
54	MP0002138_abnormal_hepatobiliary_system	1.18818267
55	MP0004270_analgesia	1.17919867
56	MP0010329_abnormal_lipoprotein_level	1.16060682
57	MP0002928_abnormal_bile_duct	1.13698773
58	MP0005410_abnormal_fertilization	1.12041829
59	MP0002254_reproductive_system_inflammat	1.11287509
60	MP0000631_abnormal_neuroendocrine_gland	1.09049487
61	MP0008775_abnormal_heart_ventricle	1.07379048
62	MP0002638_abnormal_pupillary_reflex	1.07249423
63	MP0002160_abnormal_reproductive_system	1.06767710
64	MP0003880_abnormal_central_pattern	1.06507166
65	MP0001756_abnormal_urination	1.06173831
66	MP0000639_abnormal_adrenal_gland	1.01961440
67	MP0005085_abnormal_gallbladder_physiolo	0.99019727
68	MP0001905_abnormal_dopamine_level	0.98733680
69	MP0005636_abnormal_mineral_homeostasis	0.96668987
70	MP0003718_maternal_effect	0.95278748
71	MP0003011_delayed_dark_adaptation	0.93886779
72	MP0003121_genomic_imprinting	0.92957704
73	MP0004142_abnormal_muscle_tone	0.90136625
74	MP0002557_abnormal_social/conspecific_i	0.89872475
75	MP0003186_abnormal_redox_activity	0.89337935
76	MP0000538_abnormal_urinary_bladder	0.88586336
77	MP0006276_abnormal_autonomic_nervous	0.88014081
78	MP0002938_white_spotting	0.86969029
79	MP0001485_abnormal_pinna_reflex	0.86899900
80	MP0003137_abnormal_impulse_conducting	0.86781762
81	MP0002078_abnormal_glucose_homeostasis	0.85015848
82	MP0002090_abnormal_vision	0.83954108
83	MP0001986_abnormal_taste_sensitivity	0.83477737
84	MP0000647_abnormal_sebaceous_gland	0.83381053
85	MP0001970_abnormal_pain_threshold	0.82234007
86	MP0004924_abnormal_behavior	0.81517225
87	MP0005386_behavior/neurological_phenoty	0.81517225
88	MP0006035_abnormal_mitochondrial_morpho	0.80698349
89	MP0005167_abnormal_blood-brain_barrier	0.79956149
90	MP0000613_abnormal_salivary_gland	0.79615432
91	MP0002139_abnormal_hepatobiliary_system	0.79422051
92	MP0000230_abnormal_systemic_arterial	0.79261878
93	MP0001919_abnormal_reproductive_system	0.78441163
94	MP0002734_abnormal_mechanical_nocicepti	0.78380361
95	MP0010678_abnormal_skin_adnexa	0.77548940
96	MP0001929_abnormal_gametogenesis	0.76746280
97	MP0004484_altered_response_of	0.74768467
98	MP0003806_abnormal_nucleotide_metabolis	0.74683639
99	MP0004085_abnormal_heartbeat	0.74178603
100	MP0008995_early_reproductive_senescence	0.73641286

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Methylmalonic acidemia (HP:0002912)	3.91305037
2	Progressive macrocephaly (HP:0004481)	3.59944793
3	Acute necrotizing encephalopathy (HP:0006965)	3.44319242
4	Pancreatic cysts (HP:0001737)	3.43241636
5	True hermaphroditism (HP:0010459)	3.41399150
6	Acute encephalopathy (HP:0006846)	3.33095021
7	Hypothermia (HP:0002045)	3.23132277
8	Abnormality of vitamin B metabolism (HP:0004340)	3.12164329
9	Methylmalonic aciduria (HP:0012120)	3.09903488
10	Pancreatic fibrosis (HP:0100732)	3.08963060
11	Ketoacidosis (HP:0001993)	3.03859717
12	Increased CSF lactate (HP:0002490)	2.96647153
13	Mitochondrial inheritance (HP:0001427)	2.91838634
14	Abnormal mitochondria in muscle tissue (HP:0008316)	2.87052354
15	Medial flaring of the eyebrow (HP:0010747)	2.69946695
16	Tongue fasciculations (HP:0001308)	2.69944637
17	Hypoglycemic coma (HP:0001325)	2.60603011
18	Nephronophthisis (HP:0000090)	2.58532528
19	Abnormality of midbrain morphology (HP:0002418)	2.58156472
20	Molar tooth sign on MRI (HP:0002419)	2.58156472
21	Hyperinsulinemic hypoglycemia (HP:0000825)	2.55682590
22	Hepatic necrosis (HP:0002605)	2.48005049
23	Intestinal atresia (HP:0011100)	2.46483187
24	Renal cortical cysts (HP:0000803)	2.41152711
25	Hepatocellular necrosis (HP:0001404)	2.40763838
26	Hyperglycemia (HP:0003074)	2.40728505
27	Increased serum lactate (HP:0002151)	2.40542336
28	Ketosis (HP:0001946)	2.39351490
29	Thyroiditis (HP:0100646)	2.37268490
30	Cerebral edema (HP:0002181)	2.37202450
31	Abnormality of the renal cortex (HP:0011035)	2.34200014
32	Hypomagnesemia (HP:0002917)	2.34182110
33	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.33506828
34	Hemiparesis (HP:0001269)	2.25915657
35	Abnormality of vitamin metabolism (HP:0100508)	2.22855432
36	3-Methylglutaconic aciduria (HP:0003535)	2.22013904
37	Abnormality of the renal medulla (HP:0100957)	2.21309456
38	Degeneration of anterior horn cells (HP:0002398)	2.19361433
39	Abnormality of the anterior horn cell (HP:0006802)	2.19361433
40	Muscle fibrillation (HP:0010546)	2.19098329
41	Large for gestational age (HP:0001520)	2.18522115
42	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.17781610
43	Muscular hypotonia of the trunk (HP:0008936)	2.17754954
44	Aplasia/hypoplasia of the uterus (HP:0008684)	2.16848382
45	Hyperglycinemia (HP:0002154)	2.16328617
46	Hyperglycinuria (HP:0003108)	2.15787450
47	Hypoglycemic seizures (HP:0002173)	2.15419816
48	Disproportionate short-trunk short stature (HP:0003521)	2.15305314
49	Attenuation of retinal blood vessels (HP:0007843)	2.15154984
50	Neoplasm of the adrenal cortex (HP:0100641)	2.14228433
51	Respiratory failure (HP:0002878)	2.13977323
52	Increased hepatocellular lipid droplets (HP:0006565)	2.12525490
53	Lactic acidosis (HP:0003128)	2.10955542
54	Congenital primary aphakia (HP:0007707)	2.07415128
55	Neoplasm of the adrenal gland (HP:0100631)	2.06575092
56	Ependymoma (HP:0002888)	2.06545157
57	Occipital encephalocele (HP:0002085)	2.06425485
58	Gait imbalance (HP:0002141)	2.05630862
59	Abnormality of urine glucose concentration (HP:0011016)	2.01463820
60	Glycosuria (HP:0003076)	2.01463820
61	Hypoplasia of the fovea (HP:0007750)	2.01404956
62	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.01404956
63	Nephrogenic diabetes insipidus (HP:0009806)	2.00664224
64	Abnormality of glycine metabolism (HP:0010895)	2.00637646
65	Abnormality of serine family amino acid metabolism (HP:0010894)	2.00637646
66	Lipid accumulation in hepatocytes (HP:0006561)	2.00290615
67	Furrowed tongue (HP:0000221)	1.97799391
68	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.96923889
69	Abolished electroretinogram (ERG) (HP:0000550)	1.96893870
70	Abnormal albumin level (HP:0012116)	1.96349342
71	Hypoalbuminemia (HP:0003073)	1.96349342
72	Abnormal rod and cone electroretinograms (HP:0008323)	1.96261324
73	Mesangial abnormality (HP:0001966)	1.95480200
74	Palpitations (HP:0001962)	1.95348158
75	Hamartoma of the eye (HP:0010568)	1.93947413
76	Renal Fanconi syndrome (HP:0001994)	1.93858025
77	Abnormality of methionine metabolism (HP:0010901)	1.93155955
78	Hypoproteinemia (HP:0003075)	1.92741101
79	Congenital stationary night blindness (HP:0007642)	1.91405341
80	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.90582085
81	Poor suck (HP:0002033)	1.87690350
82	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.86368897
83	Abnormality of alanine metabolism (HP:0010916)	1.86368897
84	Hyperalaninemia (HP:0003348)	1.86368897
85	Double outlet right ventricle (HP:0001719)	1.85775084
86	Congenital malformation of the right heart (HP:0011723)	1.85775084
87	Hematochezia (HP:0002573)	1.84263780
88	Optic disc pallor (HP:0000543)	1.83343806
89	Sclerocornea (HP:0000647)	1.83024398
90	Progressive microcephaly (HP:0000253)	1.80961993
91	Enlarged penis (HP:0000040)	1.80333030
92	Cystic liver disease (HP:0006706)	1.78628686
93	Astrocytoma (HP:0009592)	1.76925997
94	Abnormality of the astrocytes (HP:0100707)	1.76925997
95	Absent speech (HP:0001344)	1.76229460
96	Male pseudohermaphroditism (HP:0000037)	1.76006726
97	Gaze-evoked nystagmus (HP:0000640)	1.74936734
98	Short tibia (HP:0005736)	1.72783349
99	Tubular atrophy (HP:0000092)	1.72619623
100	Chronic hepatic failure (HP:0100626)	1.70769797

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.92062858
2	MAP4K2	3.94549587
3	MST4	3.51517547
4	EIF2AK3	2.98201414
5	ERBB3	2.48894495
6	WNK3	2.47629175
7	NUAK1	2.42194567
8	TRIM28	2.34331836
9	BMPR1B	2.32416489
10	EIF2AK1	2.22600978
11	TIE1	2.20841722
12	GRK1	2.15584748
13	FGFR2	2.14796672
14	PLK2	1.94292850
15	BCR	1.86451267
16	FER	1.78541173
17	MKNK2	1.77019083
18	STK39	1.71982240
19	PHKG2	1.70031778
20	PHKG1	1.70031778
21	ZAK	1.58505735
22	ACVR1B	1.54516442
23	INSRR	1.48053955
24	PLK3	1.45267308
25	PAK3	1.42597070
26	OXSR1	1.40853578
27	CSNK1G3	1.38120647
28	ADRBK2	1.37962656
29	STK38L	1.37905968
30	PINK1	1.28386118
31	CSNK1G1	1.25516446
32	MAP3K12	1.22002629
33	PRKCE	1.21403040
34	CSNK1G2	1.20602265
35	CASK	1.20292190
36	STK16	1.17559302
37	CSNK1A1L	1.17315128
38	BUB1	1.15564307
39	MAP3K4	1.11574868
40	BCKDK	1.08379551
41	STK3	0.98418242
42	MAPK13	0.97223826
43	NEK1	0.90090428
44	MKNK1	0.89429857
45	VRK1	0.82659360
46	SRPK1	0.80816952
47	TNIK	0.80543703
48	VRK2	0.80002011
49	TLK1	0.79237518
50	WNK4	0.78012231
51	BMPR2	0.77735384
52	PRKCI	0.77558182
53	MAP2K7	0.76012469
54	MUSK	0.69656091
55	DAPK2	0.67210050
56	PRKCG	0.66711187
57	EPHA4	0.60512564
58	CAMK2D	0.60063890
59	SIK3	0.59511394
60	PLK4	0.56671100
61	BRSK2	0.56536828
62	MYLK	0.54226855
63	TGFBR1	0.50401452
64	LMTK2	0.50297648
65	EIF2AK2	0.48438130
66	LIMK1	0.46121671
67	TSSK6	0.44366031
68	PLK1	0.42930910
69	NTRK3	0.42089613
70	ADRBK1	0.41084052
71	ROCK1	0.40882829
72	PAK6	0.39569515
73	DYRK2	0.38243701
74	CAMK2A	0.37781013
75	MINK1	0.36009027
76	DAPK1	0.33902154
77	EPHA3	0.32949668
78	PRKCQ	0.32663306
79	STK24	0.32526449
80	CSNK1A1	0.32477806
81	LATS1	0.31144029
82	RPS6KA4	0.30726528
83	CDK8	0.29989427
84	AKT3	0.29656921
85	GRK5	0.29585335
86	PRKACA	0.29033308
87	MAP3K2	0.28098440
88	PTK2B	0.27169328
89	PRKG1	0.27045905
90	FGFR3	0.25863407
91	ATM	0.25445422
92	PRKCA	0.25142879
93	MARK1	0.24414690
94	MAP2K6	0.23781169
95	FLT3	0.22795090
96	MAPKAPK3	0.22625732
97	PRKACB	0.22014183
98	PRKAA1	0.21901206
99	TEC	0.21702329
100	CSNK1D	0.21688938

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	3.85095540
2	Caffeine metabolism_Homo sapiens_hsa00232	3.65563162
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.36451266
4	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.90924522
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.68170983
6	Proteasome_Homo sapiens_hsa03050	2.67010379
7	Propanoate metabolism_Homo sapiens_hsa00640	2.65419379
8	Butanoate metabolism_Homo sapiens_hsa00650	2.49046491
9	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.38611103
10	Oxidative phosphorylation_Homo sapiens_hsa00190	2.17138079
11	Sulfur metabolism_Homo sapiens_hsa00920	2.14759304
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.05968705
13	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.87356058
14	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.82757369
15	Fatty acid elongation_Homo sapiens_hsa00062	1.79389829
16	RNA polymerase_Homo sapiens_hsa03020	1.76379214
17	Selenocompound metabolism_Homo sapiens_hsa00450	1.72538828
18	Phototransduction_Homo sapiens_hsa04744	1.59133221
19	Collecting duct acid secretion_Homo sapiens_hsa04966	1.57439186
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.54865257
21	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.54237438
22	Parkinsons disease_Homo sapiens_hsa05012	1.51444738
23	Basal transcription factors_Homo sapiens_hsa03022	1.44366879
24	Peroxisome_Homo sapiens_hsa04146	1.41900604
25	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.31767420
26	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.31214285
27	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.30988399
28	RNA degradation_Homo sapiens_hsa03018	1.29643673
29	Tryptophan metabolism_Homo sapiens_hsa00380	1.29556423
30	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.27608103
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.23814467
32	Circadian rhythm_Homo sapiens_hsa04710	1.12237001
33	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.08739495
34	Nitrogen metabolism_Homo sapiens_hsa00910	1.08560315
35	Ether lipid metabolism_Homo sapiens_hsa00565	1.08481842
36	Folate biosynthesis_Homo sapiens_hsa00790	1.07782023
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.02818872
38	Linoleic acid metabolism_Homo sapiens_hsa00591	1.01523657
39	Non-homologous end-joining_Homo sapiens_hsa03450	1.01477391
40	Insulin secretion_Homo sapiens_hsa04911	0.99319091
41	Alzheimers disease_Homo sapiens_hsa05010	0.96387125
42	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.96227009
43	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.95207752
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.93508522
45	Steroid biosynthesis_Homo sapiens_hsa00100	0.93095880
46	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.92810169
47	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.91181192
48	Fatty acid metabolism_Homo sapiens_hsa01212	0.87580008
49	Huntingtons disease_Homo sapiens_hsa05016	0.83756849
50	Metabolic pathways_Homo sapiens_hsa01100	0.81073172
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.80984386
52	Regulation of autophagy_Homo sapiens_hsa04140	0.80315218
53	Purine metabolism_Homo sapiens_hsa00230	0.79907473
54	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.79034950
55	Type I diabetes mellitus_Homo sapiens_hsa04940	0.78341044
56	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.76580312
57	Vibrio cholerae infection_Homo sapiens_hsa05110	0.76105145
58	Homologous recombination_Homo sapiens_hsa03440	0.74700000
59	GABAergic synapse_Homo sapiens_hsa04727	0.73676385
60	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.73489360
61	Chemical carcinogenesis_Homo sapiens_hsa05204	0.72539051
62	Retinol metabolism_Homo sapiens_hsa00830	0.72083809
63	Taste transduction_Homo sapiens_hsa04742	0.71024603
64	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.68723064
65	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.67334771
66	One carbon pool by folate_Homo sapiens_hsa00670	0.65385924
67	Olfactory transduction_Homo sapiens_hsa04740	0.63369803
68	Mismatch repair_Homo sapiens_hsa03430	0.62997811
69	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.62859852
70	Fatty acid degradation_Homo sapiens_hsa00071	0.62342705
71	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.61443934
72	Nicotine addiction_Homo sapiens_hsa05033	0.60877008
73	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.59517139
74	Oocyte meiosis_Homo sapiens_hsa04114	0.59159550
75	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.57966628
76	Glutathione metabolism_Homo sapiens_hsa00480	0.57521090
77	Pyrimidine metabolism_Homo sapiens_hsa00240	0.54030898
78	Circadian entrainment_Homo sapiens_hsa04713	0.52737193
79	Sphingolipid metabolism_Homo sapiens_hsa00600	0.52263008
80	Pyruvate metabolism_Homo sapiens_hsa00620	0.51784965
81	RNA transport_Homo sapiens_hsa03013	0.50591191
82	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.50472692
83	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.49494285
84	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.48181924
85	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.48100056
86	Nucleotide excision repair_Homo sapiens_hsa03420	0.47958632
87	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.46821297
88	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.46717799
89	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.44467236
90	Serotonergic synapse_Homo sapiens_hsa04726	0.44197500
91	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.44012056
92	ABC transporters_Homo sapiens_hsa02010	0.43448684
93	Morphine addiction_Homo sapiens_hsa05032	0.39544712
94	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.39537678
95	Cardiac muscle contraction_Homo sapiens_hsa04260	0.39357193
96	Rheumatoid arthritis_Homo sapiens_hsa05323	0.37202554
97	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.37175153
98	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.36024749
99	Mineral absorption_Homo sapiens_hsa04978	0.35443120
100	Salivary secretion_Homo sapiens_hsa04970	0.35283694

BMS1P16

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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