ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	platelet dense granule organization (GO:0060155)	4.81818340
2	regulation of glucokinase activity (GO:0033131)	4.10936128
3	regulation of hexokinase activity (GO:1903299)	4.10936128
4	fucose catabolic process (GO:0019317)	3.98508974
5	L-fucose metabolic process (GO:0042354)	3.98508974
6	L-fucose catabolic process (GO:0042355)	3.98508974
7	response to xenobiotic stimulus (GO:0009410)	3.73438019
8	inositol phosphate catabolic process (GO:0071545)	3.66286519
9	pyrimidine nucleobase catabolic process (GO:0006208)	3.66030896
10	polyol catabolic process (GO:0046174)	3.62647143
11	neural tube formation (GO:0001841)	3.59478280
12	negative regulation of T cell differentiation in thymus (GO:0033085)	3.55763244
13	protein-cofactor linkage (GO:0018065)	3.54523760
14	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.52682377
15	mannosylation (GO:0097502)	3.52453991
16	cysteine metabolic process (GO:0006534)	3.51737673
17	behavioral response to nicotine (GO:0035095)	3.45744800
18	positive regulation of action potential (GO:0045760)	3.44881968
19	S-adenosylmethionine metabolic process (GO:0046500)	3.43617106
20	magnesium ion transport (GO:0015693)	3.42366624
21	response to nitrosative stress (GO:0051409)	3.38182638
22	protein K11-linked deubiquitination (GO:0035871)	3.38046485
23	keratinocyte development (GO:0003334)	3.37656096
24	opioid receptor signaling pathway (GO:0038003)	3.33649148
25	piRNA metabolic process (GO:0034587)	3.30587233
26	preassembly of GPI anchor in ER membrane (GO:0016254)	3.30542744
27	heparin metabolic process (GO:0030202)	3.27946705
28	heparin biosynthetic process (GO:0030210)	3.27946705
29	indolalkylamine metabolic process (GO:0006586)	3.27174226
30	behavioral response to ethanol (GO:0048149)	3.25586428
31	response to pheromone (GO:0019236)	3.23732302
32	nucleobase catabolic process (GO:0046113)	3.23628390
33	iron coordination entity transport (GO:1901678)	3.22908691
34	L-ascorbic acid metabolic process (GO:0019852)	3.22358337
35	reciprocal DNA recombination (GO:0035825)	3.21557970
36	reciprocal meiotic recombination (GO:0007131)	3.21557970
37	base-excision repair, AP site formation (GO:0006285)	3.20522921
38	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	3.16090775
39	arginine catabolic process (GO:0006527)	3.10439500
40	regulation of meiosis I (GO:0060631)	3.08636158
41	aggressive behavior (GO:0002118)	3.07928300
42	axoneme assembly (GO:0035082)	3.06219706
43	tachykinin receptor signaling pathway (GO:0007217)	3.03863720
44	male meiosis I (GO:0007141)	3.00012052
45	rhodopsin mediated signaling pathway (GO:0016056)	2.99122557
46	respiratory chain complex IV assembly (GO:0008535)	2.97167066
47	DNA deamination (GO:0045006)	2.94111073
48	proline transport (GO:0015824)	2.93548943
49	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.93137728
50	regulation of action potential (GO:0098900)	2.92418327
51	dentate gyrus development (GO:0021542)	2.91984345
52	detection of light stimulus involved in sensory perception (GO:0050962)	2.91916574
53	detection of light stimulus involved in visual perception (GO:0050908)	2.91916574
54	adaptation of signaling pathway (GO:0023058)	2.86308113
55	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.85670654
56	nitric oxide mediated signal transduction (GO:0007263)	2.83890059
57	epithelial cilium movement (GO:0003351)	2.81451985
58	regulation of male gonad development (GO:2000018)	2.76623461
59	reflex (GO:0060004)	2.75289200
60	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.73215241
61	multicellular organism reproduction (GO:0032504)	2.72523542
62	inositol phosphate dephosphorylation (GO:0046855)	2.71874683
63	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.71874683
64	protein polyglutamylation (GO:0018095)	2.70655822
65	cytochrome complex assembly (GO:0017004)	2.70045166
66	embryonic epithelial tube formation (GO:0001838)	2.69705524
67	sperm motility (GO:0030317)	2.69098774
68	positive regulation of T cell differentiation in thymus (GO:0033089)	2.69025552
69	regulation of neurotransmitter uptake (GO:0051580)	2.67028392
70	regulation of hippo signaling (GO:0035330)	2.65647811
71	ubiquinone biosynthetic process (GO:0006744)	2.65646734
72	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.62757537
73	regulation of cilium movement (GO:0003352)	2.61129019
74	positive regulation of male gonad development (GO:2000020)	2.60233303
75	exogenous drug catabolic process (GO:0042738)	2.59372561
76	righting reflex (GO:0060013)	2.58808545
77	pseudouridine synthesis (GO:0001522)	2.58364496
78	indole-containing compound catabolic process (GO:0042436)	2.57138872
79	indolalkylamine catabolic process (GO:0046218)	2.57138872
80	tryptophan catabolic process (GO:0006569)	2.57138872
81	nonribosomal peptide biosynthetic process (GO:0019184)	2.55134168
82	startle response (GO:0001964)	2.53249238
83	hindbrain development (GO:0030902)	2.53050341
84	aldehyde catabolic process (GO:0046185)	2.52798259
85	positive regulation of respiratory burst (GO:0060267)	2.52622656
86	positive regulation of fatty acid transport (GO:2000193)	2.51297351
87	nephron tubule formation (GO:0072079)	2.48717480
88	epithelial tube formation (GO:0072175)	2.47584755
89	tryptophan metabolic process (GO:0006568)	2.46961390
90	cAMP catabolic process (GO:0006198)	2.45266933
91	glycerophospholipid catabolic process (GO:0046475)	2.43879461
92	purine deoxyribonucleotide catabolic process (GO:0009155)	2.43388074
93	positive regulation of digestive system process (GO:0060456)	2.43037400
94	GPI anchor metabolic process (GO:0006505)	2.41523252
95	meiosis I (GO:0007127)	2.40805353
96	auditory receptor cell stereocilium organization (GO:0060088)	2.39965263
97	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.39459543
98	kynurenine metabolic process (GO:0070189)	2.36411500
99	oxidative demethylation (GO:0070989)	2.36364732
100	C-terminal protein lipidation (GO:0006501)	2.35075958

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.93802837
2	VDR_22108803_ChIP-Seq_LS180_Human	3.83044918
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.61512979
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.33096263
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.04690089
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.98127668
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.73308482
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.53877624
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.36465672
10	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	2.16577538
11	P300_19829295_ChIP-Seq_ESCs_Human	2.09775903
12	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.03717869
13	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.00209559
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.96915794
15	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.95004583
16	EWS_26573619_Chip-Seq_HEK293_Human	1.88773055
17	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.86699193
18	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.85827895
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.78987996
20	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.74061956
21	FUS_26573619_Chip-Seq_HEK293_Human	1.71884835
22	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.67920377
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.64043793
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.60689301
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.60405326
26	CBP_20019798_ChIP-Seq_JUKART_Human	1.59915838
27	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.59915838
28	IRF1_19129219_ChIP-ChIP_H3396_Human	1.55795470
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.50538368
30	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.45991181
31	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.45933277
32	TCF4_23295773_ChIP-Seq_U87_Human	1.45817467
33	AR_25329375_ChIP-Seq_VCAP_Human	1.45452351
34	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.45389250
35	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.45389250
36	STAT3_23295773_ChIP-Seq_U87_Human	1.44613884
37	TCF4_22108803_ChIP-Seq_LS180_Human	1.43731772
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.42109779
39	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.41063535
40	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.40884900
41	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.40874817
42	EZH2_22144423_ChIP-Seq_EOC_Human	1.39380868
43	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.38683459
44	BCAT_22108803_ChIP-Seq_LS180_Human	1.37349929
45	NCOR_22424771_ChIP-Seq_293T_Human	1.36860594
46	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.35324957
47	AR_21572438_ChIP-Seq_LNCaP_Human	1.33538368
48	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.31380116
49	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.31197298
50	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.30698044
51	SMAD4_21799915_ChIP-Seq_A2780_Human	1.30153746
52	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.28752535
53	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.28752535
54	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.26193594
55	REST_21632747_ChIP-Seq_MESCs_Mouse	1.26021729
56	MYC_18940864_ChIP-ChIP_HL60_Human	1.25746215
57	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.24036305
58	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.23370984
59	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.22332649
60	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21192939
61	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21192939
62	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.20926757
63	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.18697512
64	TP53_16413492_ChIP-PET_HCT116_Human	1.18335200
65	HOXB7_26014856_ChIP-Seq_BT474_Human	1.18184990
66	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.16826022
67	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.16576167
68	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.16454561
69	TAF15_26573619_Chip-Seq_HEK293_Human	1.15931047
70	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.14164042
71	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.13422537
72	SMRT_27268052_Chip-Seq_Bcells_Human	1.11651594
73	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.11227912
74	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.10465277
75	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.08958169
76	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.07580698
77	RNF2_27304074_Chip-Seq_NSC_Mouse	1.07450599
78	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.07367386
79	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.07231160
80	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.07197806
81	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.04822322
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.04683557
83	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04393537
84	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.03288697
85	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.02396454
86	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.02393328
87	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.02222148
88	VDR_23849224_ChIP-Seq_CD4+_Human	1.02113241
89	DROSHA_22980978_ChIP-Seq_HELA_Human	1.01571291
90	AR_20517297_ChIP-Seq_VCAP_Human	0.99947424
91	GATA3_26560356_Chip-Seq_TH2_Human	0.98599691
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.97122024
93	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.97036335
94	MYC_19829295_ChIP-Seq_ESCs_Human	0.96964396
95	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.96932633
96	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.96716774
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.95022198
98	ERA_21632823_ChIP-Seq_H3396_Human	0.93872905
99	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.93716192
100	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.93481320

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002254_reproductive_system_inflammat	3.31233998
2	MP0002102_abnormal_ear_morphology	2.71210780
3	MP0001968_abnormal_touch/_nociception	2.70840922
4	MP0003195_calcinosis	2.64111202
5	MP0002736_abnormal_nociception_after	2.51215244
6	MP0006292_abnormal_olfactory_placode	2.49916644
7	MP0005084_abnormal_gallbladder_morpholo	2.46662716
8	MP0008872_abnormal_physiological_respon	2.46433124
9	MP0000372_irregular_coat_pigmentation	2.45168303
10	MP0001986_abnormal_taste_sensitivity	2.41634117
11	MP0005645_abnormal_hypothalamus_physiol	2.36287253
12	MP0005646_abnormal_pituitary_gland	2.36090960
13	MP0005551_abnormal_eye_electrophysiolog	2.28689799
14	MP0003646_muscle_fatigue	2.27106312
15	MP0004147_increased_porphyrin_level	2.10534159
16	MP0008877_abnormal_DNA_methylation	2.08917511
17	MP0001501_abnormal_sleep_pattern	2.06881382
18	MP0002876_abnormal_thyroid_physiology	1.96916047
19	MP0002138_abnormal_hepatobiliary_system	1.88868269
20	MP0000569_abnormal_digit_pigmentation	1.85092872
21	MP0002160_abnormal_reproductive_system	1.78051755
22	MP0008875_abnormal_xenobiotic_pharmacok	1.73829777
23	MP0002837_dystrophic_cardiac_calcinosis	1.69951049
24	MP0004043_abnormal_pH_regulation	1.69923578
25	MP0005174_abnormal_tail_pigmentation	1.64154036
26	MP0002735_abnormal_chemical_nociception	1.61364581
27	MP0003718_maternal_effect	1.56271000
28	MP0006072_abnormal_retinal_apoptosis	1.55591207
29	MP0009745_abnormal_behavioral_response	1.50932530
30	MP0002272_abnormal_nervous_system	1.50483570
31	MP0003252_abnormal_bile_duct	1.48144136
32	MP0002928_abnormal_bile_duct	1.47121517
33	MP0005379_endocrine/exocrine_gland_phen	1.46181613
34	MP0005410_abnormal_fertilization	1.43082924
35	MP0005389_reproductive_system_phenotype	1.41267490
36	MP0000631_abnormal_neuroendocrine_gland	1.35743807
37	MP0004885_abnormal_endolymph	1.33923218
38	MP0005253_abnormal_eye_physiology	1.33130238
39	MP0002067_abnormal_sensory_capabilities	1.31950223
40	MP0002277_abnormal_respiratory_mucosa	1.31893898
41	MP0009046_muscle_twitch	1.31866450
42	MP0008058_abnormal_DNA_repair	1.30393324
43	MP0000427_abnormal_hair_cycle	1.30381580
44	MP0004142_abnormal_muscle_tone	1.22258478
45	MP0001905_abnormal_dopamine_level	1.19733007
46	MP0002163_abnormal_gland_morphology	1.19599142
47	MP0003787_abnormal_imprinting	1.18695105
48	MP0002229_neurodegeneration	1.16590411
49	MP0004133_heterotaxia	1.15493771
50	MP0000383_abnormal_hair_follicle	1.15465588
51	MP0003880_abnormal_central_pattern	1.13654719
52	MP0002234_abnormal_pharynx_morphology	1.13082047
53	MP0002572_abnormal_emotion/affect_behav	1.11103782
54	MP0004019_abnormal_vitamin_homeostasis	1.11102095
55	MP0003890_abnormal_embryonic-extraembry	1.10757386
56	MP0004742_abnormal_vestibular_system	1.06892128
57	MP0003698_abnormal_male_reproductive	1.06422942
58	MP0005636_abnormal_mineral_homeostasis	1.03863935
59	MP0000516_abnormal_urinary_system	1.03520440
60	MP0005367_renal/urinary_system_phenotyp	1.03520440
61	MP0003943_abnormal_hepatobiliary_system	1.01083641
62	MP0000013_abnormal_adipose_tissue	1.00995802
63	MP0002938_white_spotting	1.00469810
64	MP0002557_abnormal_social/conspecific_i	0.99068556
65	MP0001764_abnormal_homeostasis	0.97831722
66	MP0001756_abnormal_urination	0.97791443
67	MP0000015_abnormal_ear_pigmentation	0.97755482
68	MP0010678_abnormal_skin_adnexa	0.97624889
69	MP0005075_abnormal_melanosome_morpholog	0.97167646
70	MP0002734_abnormal_mechanical_nocicepti	0.96571488
71	MP0002693_abnormal_pancreas_physiology	0.96228448
72	MP0005647_abnormal_sex_gland	0.94322196
73	MP0001970_abnormal_pain_threshold	0.92457009
74	MP0000685_abnormal_immune_system	0.92392341
75	MP0002064_seizures	0.92244834
76	MP0002095_abnormal_skin_pigmentation	0.91361364
77	MP0005423_abnormal_somatic_nervous	0.91213612
78	MP0010386_abnormal_urinary_bladder	0.90725283
79	MP0008057_abnormal_DNA_replication	0.88090874
80	MP0002184_abnormal_innervation	0.86313872
81	MP0001765_abnormal_ion_homeostasis	0.85991886
82	MP0001502_abnormal_circadian_rhythm	0.85260997
83	MP0001944_abnormal_pancreas_morphology	0.84515537
84	MP0001929_abnormal_gametogenesis	0.83620401
85	MP0001984_abnormal_olfaction	0.83612602
86	MP0003635_abnormal_synaptic_transmissio	0.82890396
87	MP0002733_abnormal_thermal_nociception	0.81665569
88	MP0009780_abnormal_chondrocyte_physiolo	0.80518531
89	MP0001486_abnormal_startle_reflex	0.80494347
90	MP0001529_abnormal_vocalization	0.80161383
91	MP0008775_abnormal_heart_ventricle	0.79823086
92	MP0003633_abnormal_nervous_system	0.78541103
93	MP0005332_abnormal_amino_acid	0.77832456
94	MP0003879_abnormal_hair_cell	0.75382380
95	MP0002210_abnormal_sex_determination	0.74114970
96	MP0000955_abnormal_spinal_cord	0.73838007
97	MP0010329_abnormal_lipoprotein_level	0.73449068
98	MP0006276_abnormal_autonomic_nervous	0.72385671
99	MP0005386_behavior/neurological_phenoty	0.70697737
100	MP0004924_abnormal_behavior	0.70697737

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypomagnesemia (HP:0002917)	4.62407779
2	Congenital stationary night blindness (HP:0007642)	4.46480881
3	Molar tooth sign on MRI (HP:0002419)	4.32647239
4	Abnormality of midbrain morphology (HP:0002418)	4.32647239
5	Tetany (HP:0001281)	4.21374566
6	Hypothermia (HP:0002045)	4.07370377
7	Abnormal drinking behavior (HP:0030082)	3.98440252
8	Polydipsia (HP:0001959)	3.98440252
9	Retinal dysplasia (HP:0007973)	3.84841464
10	Chronic hepatic failure (HP:0100626)	3.70463413
11	Pancreatic cysts (HP:0001737)	3.55790003
12	Abnormality of magnesium homeostasis (HP:0004921)	3.51454134
13	Thyroid-stimulating hormone excess (HP:0002925)	3.46515189
14	Type II lissencephaly (HP:0007260)	3.41938242
15	Pancreatic fibrosis (HP:0100732)	3.35977836
16	Nephronophthisis (HP:0000090)	3.30432635
17	Stomatitis (HP:0010280)	3.10583440
18	Polyuria (HP:0000103)	3.06269648
19	Hyperventilation (HP:0002883)	3.04712109
20	True hermaphroditism (HP:0010459)	3.01271791
21	Renal cortical cysts (HP:0000803)	2.96251810
22	Stomach cancer (HP:0012126)	2.85744516
23	Abnormality of the renal cortex (HP:0011035)	2.79600759
24	Abnormality of the renal medulla (HP:0100957)	2.75791207
25	Thyroiditis (HP:0100646)	2.75586463
26	Abnormal rod and cone electroretinograms (HP:0008323)	2.66173518
27	Protruding tongue (HP:0010808)	2.46165845
28	Abnormal urine output (HP:0012590)	2.43306459
29	Abolished electroretinogram (ERG) (HP:0000550)	2.41158973
30	Medial flaring of the eyebrow (HP:0010747)	2.39317500
31	Attenuation of retinal blood vessels (HP:0007843)	2.36148437
32	Gaze-evoked nystagmus (HP:0000640)	2.32352355
33	Tachypnea (HP:0002789)	2.26898903
34	Occipital encephalocele (HP:0002085)	2.26437425
35	Hemiparesis (HP:0001269)	2.20254883
36	Cerebellar dysplasia (HP:0007033)	2.15607255
37	Ketoacidosis (HP:0001993)	2.13582192
38	Febrile seizures (HP:0002373)	2.13109190
39	Severe combined immunodeficiency (HP:0004430)	2.12703848
40	Increased CSF lactate (HP:0002490)	2.11404868
41	Abnormality of renal excretion (HP:0011036)	2.10914713
42	Hypoplasia of the fovea (HP:0007750)	2.10904523
43	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.10904523
44	Congenital hepatic fibrosis (HP:0002612)	2.10145254
45	Abnormality of B cell number (HP:0010975)	2.09242639
46	Congenital sensorineural hearing impairment (HP:0008527)	2.08986995
47	Mitochondrial inheritance (HP:0001427)	2.08444514
48	Abnormality of macular pigmentation (HP:0008002)	2.08343952
49	Tubulointerstitial nephritis (HP:0001970)	2.06233043
50	Progressive cerebellar ataxia (HP:0002073)	2.03081279
51	Absent speech (HP:0001344)	2.02144973
52	Hepatic necrosis (HP:0002605)	2.01530211
53	Bile duct proliferation (HP:0001408)	2.00206812
54	Abnormal biliary tract physiology (HP:0012439)	2.00206812
55	Inability to walk (HP:0002540)	1.99869443
56	Pendular nystagmus (HP:0012043)	1.98483640
57	Decreased central vision (HP:0007663)	1.98134096
58	Albinism (HP:0001022)	1.96977921
59	Hepatocellular necrosis (HP:0001404)	1.94775097
60	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.93913009
61	Male pseudohermaphroditism (HP:0000037)	1.93464681
62	Neonatal respiratory distress (HP:0002643)	1.91293028
63	Postaxial foot polydactyly (HP:0001830)	1.90844230
64	Lipid accumulation in hepatocytes (HP:0006561)	1.90791474
65	Cystic liver disease (HP:0006706)	1.90659865
66	Acute necrotizing encephalopathy (HP:0006965)	1.86142825
67	Asplenia (HP:0001746)	1.85248538
68	Abnormality of the fovea (HP:0000493)	1.83170066
69	Lissencephaly (HP:0001339)	1.81880081
70	Progressive inability to walk (HP:0002505)	1.81827397
71	Methylmalonic aciduria (HP:0012120)	1.81618530
72	Hypoproteinemia (HP:0003075)	1.80425653
73	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.79521108
74	Increased hepatocellular lipid droplets (HP:0006565)	1.77368430
75	Severe muscular hypotonia (HP:0006829)	1.77244565
76	Dialeptic seizures (HP:0011146)	1.77054078
77	Hypoglycemic coma (HP:0001325)	1.76720152
78	Sclerocornea (HP:0000647)	1.74611013
79	Mesangial abnormality (HP:0001966)	1.73466284
80	Progressive macrocephaly (HP:0004481)	1.72455580
81	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.72298097
82	Abnormality of DNA repair (HP:0003254)	1.72129806
83	Gait imbalance (HP:0002141)	1.71404410
84	Tented upper lip vermilion (HP:0010804)	1.71216572
85	Abnormality of urine glucose concentration (HP:0011016)	1.70463664
86	Glycosuria (HP:0003076)	1.70463664
87	Severe visual impairment (HP:0001141)	1.70417080
88	Fair hair (HP:0002286)	1.70297222
89	Astigmatism (HP:0000483)	1.70249377
90	Focal seizures (HP:0007359)	1.70091859
91	Intestinal atresia (HP:0011100)	1.69932969
92	Tubular atrophy (HP:0000092)	1.68521760
93	Abnormality of eosinophils (HP:0001879)	1.68504383
94	Metaphyseal dysplasia (HP:0100255)	1.67729473
95	Increased serum lactate (HP:0002151)	1.67075265
96	Acute encephalopathy (HP:0006846)	1.67019874
97	Renal Fanconi syndrome (HP:0001994)	1.66733113
98	Hypoplastic iliac wings (HP:0002866)	1.66712926
99	Ketosis (HP:0001946)	1.66681832
100	3-Methylglutaconic aciduria (HP:0003535)	1.66429688

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.97692361
2	NUAK1	3.50744356
3	MAP4K2	3.41038870
4	TRIM28	3.06912804
5	LATS1	2.95564567
6	TAOK3	2.90302303
7	INSRR	2.84073717
8	WNK4	2.76876851
9	WNK3	2.56655815
10	ACVR1B	2.30541227
11	ADRBK2	2.24159831
12	MST4	2.01598936
13	STK39	1.92885037
14	BMPR1B	1.91920496
15	DYRK2	1.91435988
16	MAPK13	1.75238553
17	GRK1	1.65089534
18	TLK1	1.64743233
19	ZAK	1.63340226
20	DAPK2	1.57584826
21	CAMKK2	1.49756772
22	PINK1	1.46204689
23	MARK1	1.41409105
24	PAK3	1.34159701
25	FGFR2	1.30524349
26	OXSR1	1.28590752
27	MKNK2	1.20919363
28	PNCK	1.18248802
29	TXK	1.17625507
30	VRK1	1.10959167
31	STK38	1.07469305
32	MUSK	1.01858408
33	TNK2	0.99554353
34	IKBKB	0.97377826
35	PLK4	0.97014757
36	BCR	0.96117780
37	MAPK15	0.94910266
38	PLK2	0.92511883
39	NME1	0.92369025
40	HIPK2	0.91827764
41	CSNK1A1L	0.90125430
42	TNIK	0.89903311
43	CASK	0.88760338
44	VRK2	0.85277261
45	CSNK1G2	0.84289541
46	CSNK1G3	0.83998756
47	PHKG2	0.81437448
48	PHKG1	0.81437448
49	TIE1	0.80250322
50	ADRBK1	0.78310750
51	CSNK1G1	0.77731798
52	PRKCI	0.77592569
53	BCKDK	0.77147282
54	STK38L	0.75289094
55	PRKCE	0.74241119
56	PAK6	0.74219675
57	MKNK1	0.72750699
58	GRK6	0.72331953
59	MAP3K14	0.72084995
60	STK3	0.71918868
61	KIT	0.71471779
62	IRAK1	0.69434014
63	ABL2	0.68993353
64	NTRK2	0.65580037
65	PRKCQ	0.65462039
66	PRKCG	0.62345494
67	MAP3K4	0.58638039
68	CAMK1	0.58139238
69	GRK5	0.56552094
70	CSNK1A1	0.55302712
71	BRSK2	0.54622946
72	PKN1	0.53999113
73	SYK	0.53661151
74	EIF2AK3	0.51998352
75	CHUK	0.50773599
76	CAMKK1	0.49350127
77	CAMK2A	0.49218736
78	YES1	0.48914084
79	MAP2K2	0.45802900
80	BTK	0.44744676
81	EIF2AK2	0.44345990
82	AKT3	0.44249862
83	PTK2B	0.43954566
84	CCNB1	0.43642587
85	PLK3	0.43227904
86	PRKACB	0.41758579
87	CAMK4	0.41754329
88	CSNK1D	0.40196588
89	TGFBR1	0.38145293
90	PRKCZ	0.36952500
91	MAP2K1	0.36891776
92	MAP4K1	0.34156314
93	PRKACA	0.31729185
94	PDK1	0.31084520
95	GSK3A	0.30020581
96	CAMK2D	0.27769028
97	TEC	0.27469921
98	PRKAA1	0.27240511
99	PRKAA2	0.26761349
100	PRKCA	0.26492020

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.29122277
2	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	3.07139248
3	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.91418313
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.87891796
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.61779450
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.60803513
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.54507798
8	RNA polymerase_Homo sapiens_hsa03020	2.40835067
9	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.27457372
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.09098785
11	Caffeine metabolism_Homo sapiens_hsa00232	2.03350248
12	Ether lipid metabolism_Homo sapiens_hsa00565	1.93716502
13	Regulation of autophagy_Homo sapiens_hsa04140	1.90459923
14	Salivary secretion_Homo sapiens_hsa04970	1.75272943
15	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.71357329
16	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.66457061
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.59595542
18	Homologous recombination_Homo sapiens_hsa03440	1.53426287
19	Primary immunodeficiency_Homo sapiens_hsa05340	1.52901557
20	Olfactory transduction_Homo sapiens_hsa04740	1.48279756
21	Protein export_Homo sapiens_hsa03060	1.47734039
22	Tryptophan metabolism_Homo sapiens_hsa00380	1.46554471
23	Non-homologous end-joining_Homo sapiens_hsa03450	1.43789786
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.41944615
25	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.41148172
26	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.36774921
27	ABC transporters_Homo sapiens_hsa02010	1.36074162
28	Peroxisome_Homo sapiens_hsa04146	1.33570184
29	Morphine addiction_Homo sapiens_hsa05032	1.33211158
30	Circadian entrainment_Homo sapiens_hsa04713	1.28591436
31	Propanoate metabolism_Homo sapiens_hsa00640	1.25946532
32	Basal transcription factors_Homo sapiens_hsa03022	1.24148650
33	Purine metabolism_Homo sapiens_hsa00230	1.20291676
34	One carbon pool by folate_Homo sapiens_hsa00670	1.19365593
35	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.19277353
36	Butanoate metabolism_Homo sapiens_hsa00650	1.18651197
37	Taste transduction_Homo sapiens_hsa04742	1.13933282
38	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.13404896
39	RNA degradation_Homo sapiens_hsa03018	1.13015789
40	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.12260032
41	Nicotine addiction_Homo sapiens_hsa05033	1.08516894
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.05112451
43	Chemical carcinogenesis_Homo sapiens_hsa05204	1.05061224
44	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.03541270
45	Serotonergic synapse_Homo sapiens_hsa04726	1.02545763
46	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.00204579
47	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.99951655
48	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.99513015
49	Fanconi anemia pathway_Homo sapiens_hsa03460	0.98416538
50	Asthma_Homo sapiens_hsa05310	0.96651807
51	Circadian rhythm_Homo sapiens_hsa04710	0.95337535
52	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.95219248
53	Selenocompound metabolism_Homo sapiens_hsa00450	0.94968849
54	Proteasome_Homo sapiens_hsa03050	0.91394606
55	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.91387457
56	Insulin secretion_Homo sapiens_hsa04911	0.90193198
57	Parkinsons disease_Homo sapiens_hsa05012	0.86114519
58	Retinol metabolism_Homo sapiens_hsa00830	0.83422392
59	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.83283039
60	beta-Alanine metabolism_Homo sapiens_hsa00410	0.82787989
61	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.82633902
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.80813511
63	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.78487593
64	Fatty acid degradation_Homo sapiens_hsa00071	0.77643341
65	Huntingtons disease_Homo sapiens_hsa05016	0.77452347
66	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.74505305
67	Mineral absorption_Homo sapiens_hsa04978	0.71623683
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.68947256
69	Cardiac muscle contraction_Homo sapiens_hsa04260	0.68638683
70	Metabolic pathways_Homo sapiens_hsa01100	0.64243902
71	GABAergic synapse_Homo sapiens_hsa04727	0.64167631
72	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.64031447
73	African trypanosomiasis_Homo sapiens_hsa05143	0.61265885
74	Pyrimidine metabolism_Homo sapiens_hsa00240	0.60741463
75	Calcium signaling pathway_Homo sapiens_hsa04020	0.59300759
76	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.59221540
77	Long-term depression_Homo sapiens_hsa04730	0.58488950
78	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.57836399
79	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.57529308
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.57011904
81	Glutathione metabolism_Homo sapiens_hsa00480	0.55416591
82	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.54700475
83	Sphingolipid metabolism_Homo sapiens_hsa00600	0.54294972
84	Fat digestion and absorption_Homo sapiens_hsa04975	0.53100727
85	Fatty acid elongation_Homo sapiens_hsa00062	0.51523251
86	Histidine metabolism_Homo sapiens_hsa00340	0.51227761
87	Alzheimers disease_Homo sapiens_hsa05010	0.50102725
88	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.49301673
89	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.46864984
90	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.42295728
91	Fatty acid metabolism_Homo sapiens_hsa01212	0.42219745
92	Collecting duct acid secretion_Homo sapiens_hsa04966	0.42207965
93	Amphetamine addiction_Homo sapiens_hsa05031	0.41280040
94	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.40936479
95	Base excision repair_Homo sapiens_hsa03410	0.40664600
96	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.32944020
97	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.26966653
98	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.25632545
99	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.25542520
100	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.25535303

SDR16C6P

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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