ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sperm motility (GO:0030317)	4.86976716
2	establishment of protein localization to Golgi (GO:0072600)	4.70473145
3	cellular ketone body metabolic process (GO:0046950)	4.57429867
4	protein targeting to Golgi (GO:0000042)	4.53074129
5	acrosome reaction (GO:0007340)	4.39031793
6	multicellular organism reproduction (GO:0032504)	4.22071798
7	response to pheromone (GO:0019236)	4.14668913
8	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.12988507
9	ketone body metabolic process (GO:1902224)	4.04916792
10	regulation of cilium movement (GO:0003352)	4.01637472
11	protein localization to Golgi apparatus (GO:0034067)	3.98461673
12	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.96164717
13	epithelial cilium movement (GO:0003351)	3.86530899
14	protein polyglutamylation (GO:0018095)	3.75305839
15	organic cation transport (GO:0015695)	3.65579452
16	coenzyme catabolic process (GO:0009109)	3.56680036
17	axoneme assembly (GO:0035082)	3.44161656
18	positive regulation of glycolytic process (GO:0045821)	3.42727235
19	tryptophan catabolic process (GO:0006569)	3.36601135
20	indole-containing compound catabolic process (GO:0042436)	3.36601135
21	indolalkylamine catabolic process (GO:0046218)	3.36601135
22	spermatid development (GO:0007286)	3.34086963
23	S-adenosylmethionine metabolic process (GO:0046500)	3.33582296
24	mannosylation (GO:0097502)	3.26287715
25	indolalkylamine metabolic process (GO:0006586)	3.23991166
26	fucose catabolic process (GO:0019317)	3.21450455
27	L-fucose metabolic process (GO:0042354)	3.21450455
28	L-fucose catabolic process (GO:0042355)	3.21450455
29	behavioral response to nicotine (GO:0035095)	3.20426704
30	preassembly of GPI anchor in ER membrane (GO:0016254)	3.16570035
31	cilium movement (GO:0003341)	3.15858810
32	phosphatidylethanolamine metabolic process (GO:0046337)	3.14981151
33	cilium or flagellum-dependent cell motility (GO:0001539)	3.11460658
34	regulation of glucokinase activity (GO:0033131)	3.04034541
35	regulation of hexokinase activity (GO:1903299)	3.04034541
36	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.03596872
37	intra-Golgi vesicle-mediated transport (GO:0006891)	3.03484595
38	water-soluble vitamin biosynthetic process (GO:0042364)	3.01666855
39	photoreceptor cell maintenance (GO:0045494)	2.99025327
40	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	2.97749579
41	piRNA metabolic process (GO:0034587)	2.95694699
42	cilium morphogenesis (GO:0060271)	2.94423485
43	inositol phosphate catabolic process (GO:0071545)	2.93857316
44	detection of light stimulus involved in sensory perception (GO:0050962)	2.92260370
45	detection of light stimulus involved in visual perception (GO:0050908)	2.92260370
46	reproduction (GO:0000003)	2.90279923
47	centriole replication (GO:0007099)	2.88420634
48	cilium organization (GO:0044782)	2.86665868
49	protein K11-linked deubiquitination (GO:0035871)	2.85753979
50	tryptophan metabolic process (GO:0006568)	2.83825652
51	respiratory chain complex IV assembly (GO:0008535)	2.81406430
52	cilium assembly (GO:0042384)	2.80822740
53	kynurenine metabolic process (GO:0070189)	2.79794535
54	platelet dense granule organization (GO:0060155)	2.78413070
55	single strand break repair (GO:0000012)	2.75638432
56	intraciliary transport (GO:0042073)	2.75117370
57	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.75006451
58	aromatic amino acid family catabolic process (GO:0009074)	2.71008955
59	male meiosis (GO:0007140)	2.70142725
60	amine catabolic process (GO:0009310)	2.68122896
61	cellular biogenic amine catabolic process (GO:0042402)	2.68122896
62	polyol catabolic process (GO:0046174)	2.67846438
63	sperm-egg recognition (GO:0035036)	2.67745813
64	nonmotile primary cilium assembly (GO:0035058)	2.67542584
65	calcium ion-dependent exocytosis (GO:0017156)	2.66785748
66	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.66779974
67	DNA methylation involved in gamete generation (GO:0043046)	2.63632808
68	kidney morphogenesis (GO:0060993)	2.61984167
69	regulation of microtubule-based movement (GO:0060632)	2.58640504
70	fusion of sperm to egg plasma membrane (GO:0007342)	2.57585380
71	lactate metabolic process (GO:0006089)	2.56026185
72	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.55864305
73	protein localization to cilium (GO:0061512)	2.55311875
74	inositol phosphate dephosphorylation (GO:0046855)	2.53161386
75	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.53161386
76	drug catabolic process (GO:0042737)	2.52880070
77	axonemal dynein complex assembly (GO:0070286)	2.51980183
78	Golgi to endosome transport (GO:0006895)	2.50759261
79	negative regulation of cAMP-mediated signaling (GO:0043951)	2.48654569
80	rRNA methylation (GO:0031167)	2.48037659
81	single fertilization (GO:0007338)	2.45778003
82	zinc ion homeostasis (GO:0055069)	2.44762487
83	regulation of acrosome reaction (GO:0060046)	2.42882609
84	peptidyl-histidine modification (GO:0018202)	2.42379398
85	DNA double-strand break processing (GO:0000729)	2.40815617
86	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.40804184
87	amino acid salvage (GO:0043102)	2.39865470
88	L-methionine salvage (GO:0071267)	2.39865470
89	L-methionine biosynthetic process (GO:0071265)	2.39865470
90	reflex (GO:0060004)	2.39691502
91	positive regulation of fatty acid transport (GO:2000193)	2.39599773
92	exogenous drug catabolic process (GO:0042738)	2.38811258
93	thyroid hormone metabolic process (GO:0042403)	2.37289036
94	centriole assembly (GO:0098534)	2.36501079
95	regulation of action potential (GO:0098900)	2.36351005
96	oxidative demethylation (GO:0070989)	2.36255171
97	cell-cell recognition (GO:0009988)	2.35134443
98	protein prenylation (GO:0018342)	2.35030811
99	prenylation (GO:0097354)	2.35030811
100	insulin secretion (GO:0030073)	2.34708673

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.76191689
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.53128747
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.93008456
4	VDR_22108803_ChIP-Seq_LS180_Human	2.78926954
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.74881065
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.47413011
7	ER_23166858_ChIP-Seq_MCF-7_Human	2.38856456
8	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.28612170
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.25023757
10	FUS_26573619_Chip-Seq_HEK293_Human	2.24492026
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.17874842
12	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.12634768
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.09361645
14	P300_19829295_ChIP-Seq_ESCs_Human	2.02897024
15	CBP_20019798_ChIP-Seq_JUKART_Human	1.92924531
16	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.92924531
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.90425308
18	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.85592659
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.83756021
20	EWS_26573619_Chip-Seq_HEK293_Human	1.76300060
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.75704313
22	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.70877283
23	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.69782733
24	BCAT_22108803_ChIP-Seq_LS180_Human	1.69067288
25	SMAD4_21799915_ChIP-Seq_A2780_Human	1.66926958
26	STAT3_23295773_ChIP-Seq_U87_Human	1.62151022
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.59206363
28	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.59159214
29	AR_25329375_ChIP-Seq_VCAP_Human	1.58049903
30	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.55025082
31	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.51953601
32	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.50572454
33	TCF4_23295773_ChIP-Seq_U87_Human	1.49780028
34	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.49230370
35	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.48615824
36	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.45588905
37	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.44716613
38	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.42513082
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.42139558
40	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.41232616
41	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.40873669
42	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.40873669
43	TCF4_22108803_ChIP-Seq_LS180_Human	1.40417522
44	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.38103529
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.35678082
46	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.35340461
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.35266289
48	SOX2_19829295_ChIP-Seq_ESCs_Human	1.35266289
49	CDX2_22108803_ChIP-Seq_LS180_Human	1.33574121
50	RUNX2_22187159_ChIP-Seq_PCA_Human	1.31559032
51	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.30663205
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.29982362
53	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.29636734
54	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.28796651
55	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.26924974
56	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.26075403
57	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.25995742
58	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.25488867
59	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.25110945
60	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.25006727
61	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.25006727
62	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.23674509
63	IRF1_19129219_ChIP-ChIP_H3396_Human	1.23183167
64	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.23081165
65	AHR_22903824_ChIP-Seq_MCF-7_Human	1.21351059
66	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19256088
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.18834397
68	HOXB7_26014856_ChIP-Seq_BT474_Human	1.17914933
69	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.16884569
70	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.16849809
71	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.15979821
72	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.15775148
73	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.15070777
74	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.15023885
75	NCOR_22424771_ChIP-Seq_293T_Human	1.13700189
76	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12235534
77	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.11422108
78	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.11253824
79	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.09652241
80	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.09425159
81	TBL1_22424771_ChIP-Seq_293T_Human	1.08470826
82	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.06285063
83	AR_20517297_ChIP-Seq_VCAP_Human	1.05501991
84	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.04482911
85	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.04404422
86	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.03231750
87	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02919806
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.01718511
89	NFYB_21822215_ChIP-Seq_K562_Human	1.01690139
90	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.01314594
91	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.00369159
92	MYC_19829295_ChIP-Seq_ESCs_Human	0.99604277
93	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	0.99252049
94	PHF8_20622853_ChIP-Seq_HELA_Human	0.99006381
95	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.98733751
96	ETV1_20927104_ChIP-Seq_GIST48_Human	0.98072727
97	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.97389276
98	AR_21572438_ChIP-Seq_LNCaP_Human	0.96754633
99	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.96612910
100	ERA_21632823_ChIP-Seq_H3396_Human	0.96044389

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	3.56464246
2	MP0003195_calcinosis	3.48221848
3	MP0002837_dystrophic_cardiac_calcinosis	3.15945859
4	MP0008877_abnormal_DNA_methylation	3.04566039
5	MP0003787_abnormal_imprinting	2.57371996
6	MP0005551_abnormal_eye_electrophysiolog	2.45745428
7	MP0005646_abnormal_pituitary_gland	2.37708363
8	MP0002876_abnormal_thyroid_physiology	2.28561851
9	MP0006072_abnormal_retinal_apoptosis	2.24532835
10	MP0002102_abnormal_ear_morphology	2.14277305
11	MP0000013_abnormal_adipose_tissue	1.99651970
12	MP0008875_abnormal_xenobiotic_pharmacok	1.95781584
13	MP0002254_reproductive_system_inflammat	1.90848478
14	MP0001501_abnormal_sleep_pattern	1.85774301
15	MP0005253_abnormal_eye_physiology	1.84957060
16	MP0005379_endocrine/exocrine_gland_phen	1.83020668
17	MP0000569_abnormal_digit_pigmentation	1.79524613
18	MP0001984_abnormal_olfaction	1.73551807
19	MP0010386_abnormal_urinary_bladder	1.66685054
20	MP0002638_abnormal_pupillary_reflex	1.65530069
21	MP0003698_abnormal_male_reproductive	1.63119142
22	MP0008872_abnormal_physiological_respon	1.61385185
23	MP0002160_abnormal_reproductive_system	1.58627383
24	MP0001968_abnormal_touch/_nociception	1.56775038
25	MP0002138_abnormal_hepatobiliary_system	1.56472695
26	MP0008995_early_reproductive_senescence	1.54004985
27	MP0003880_abnormal_central_pattern	1.53277544
28	MP0009046_muscle_twitch	1.52873425
29	MP0009780_abnormal_chondrocyte_physiolo	1.52809235
30	MP0000427_abnormal_hair_cycle	1.52359347
31	MP0005645_abnormal_hypothalamus_physiol	1.50020473
32	MP0001929_abnormal_gametogenesis	1.48847258
33	MP0010329_abnormal_lipoprotein_level	1.45690310
34	MP0001986_abnormal_taste_sensitivity	1.45342376
35	MP0004043_abnormal_pH_regulation	1.42389777
36	MP0004133_heterotaxia	1.40573605
37	MP0000372_irregular_coat_pigmentation	1.37006348
38	MP0002938_white_spotting	1.36719479
39	MP0005365_abnormal_bile_salt	1.36661316
40	MP0002928_abnormal_bile_duct	1.36325232
41	MP0005332_abnormal_amino_acid	1.33635269
42	MP0005389_reproductive_system_phenotype	1.33151568
43	MP0001764_abnormal_homeostasis	1.32179797
44	MP0003011_delayed_dark_adaptation	1.31723756
45	MP0003252_abnormal_bile_duct	1.28947307
46	MP0001485_abnormal_pinna_reflex	1.25477494
47	MP0002693_abnormal_pancreas_physiology	1.22638740
48	MP0001944_abnormal_pancreas_morphology	1.18898698
49	MP0006276_abnormal_autonomic_nervous	1.17348957
50	MP0005174_abnormal_tail_pigmentation	1.16591791
51	MP0003646_muscle_fatigue	1.15815400
52	MP0000516_abnormal_urinary_system	1.15186663
53	MP0005367_renal/urinary_system_phenotyp	1.15186663
54	MP0005085_abnormal_gallbladder_physiolo	1.14659837
55	MP0002557_abnormal_social/conspecific_i	1.13209604
56	MP0000631_abnormal_neuroendocrine_gland	1.13053760
57	MP0009745_abnormal_behavioral_response	1.10305604
58	MP0005670_abnormal_white_adipose	1.10230270
59	MP0000538_abnormal_urinary_bladder	1.09691994
60	MP0001756_abnormal_urination	1.08300646
61	MP0001486_abnormal_startle_reflex	1.07008731
62	MP0005360_urolithiasis	1.06204106
63	MP0001919_abnormal_reproductive_system	1.05587903
64	MP0002139_abnormal_hepatobiliary_system	1.05323524
65	MP0008775_abnormal_heart_ventricle	1.03122409
66	MP0002163_abnormal_gland_morphology	1.02848367
67	MP0002272_abnormal_nervous_system	1.00589885
68	MP0004142_abnormal_muscle_tone	1.00198644
69	MP0006292_abnormal_olfactory_placode	0.99910723
70	MP0000230_abnormal_systemic_arterial	0.99016498
71	MP0002909_abnormal_adrenal_gland	0.97809159
72	MP0000015_abnormal_ear_pigmentation	0.97515047
73	MP0009697_abnormal_copulation	0.94908060
74	MP0005084_abnormal_gallbladder_morpholo	0.93796043
75	MP0002229_neurodegeneration	0.93010916
76	MP0000653_abnormal_sex_gland	0.90861825
77	MP0000383_abnormal_hair_follicle	0.89941032
78	MP0005647_abnormal_sex_gland	0.89260408
79	MP0003718_maternal_effect	0.88544305
80	MP0005167_abnormal_blood-brain_barrier	0.87786639
81	MP0002210_abnormal_sex_determination	0.85990413
82	MP0006036_abnormal_mitochondrial_physio	0.85521145
83	MP0005636_abnormal_mineral_homeostasis	0.84950099
84	MP0004924_abnormal_behavior	0.84546725
85	MP0005386_behavior/neurological_phenoty	0.84546725
86	MP0004484_altered_response_of	0.83976411
87	MP0005187_abnormal_penis_morphology	0.83649559
88	MP0002078_abnormal_glucose_homeostasis	0.83317255
89	MP0001145_abnormal_male_reproductive	0.82800165
90	MP0001765_abnormal_ion_homeostasis	0.82739904
91	MP0002127_abnormal_cardiovascular_syste	0.81544019
92	MP0001666_abnormal_nutrient_absorption	0.81474009
93	MP0005220_abnormal_exocrine_pancreas	0.81157087
94	MP0008057_abnormal_DNA_replication	0.80133009
95	MP0004885_abnormal_endolymph	0.79443203
96	MP0003786_premature_aging	0.78514425
97	MP0003953_abnormal_hormone_level	0.78171437
98	MP0008961_abnormal_basal_metabolism	0.75615783
99	MP0002736_abnormal_nociception_after	0.75414451
100	MP0000003_abnormal_adipose_tissue	0.75112518

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.24165647
2	Pancreatic fibrosis (HP:0100732)	4.15674682
3	True hermaphroditism (HP:0010459)	3.82933131
4	Abnormality of the renal cortex (HP:0011035)	3.73070560
5	Chronic hepatic failure (HP:0100626)	3.72651345
6	Nephronophthisis (HP:0000090)	3.68086391
7	Abnormality of midbrain morphology (HP:0002418)	3.45923376
8	Molar tooth sign on MRI (HP:0002419)	3.45923376
9	Abnormality of the renal medulla (HP:0100957)	3.29273391
10	Medial flaring of the eyebrow (HP:0010747)	3.14963115
11	Type II lissencephaly (HP:0007260)	3.13271008
12	Renal cortical cysts (HP:0000803)	3.07980141
13	Attenuation of retinal blood vessels (HP:0007843)	3.07597691
14	Hypothermia (HP:0002045)	2.98109829
15	Tubulointerstitial nephritis (HP:0001970)	2.93956037
16	Tubular atrophy (HP:0000092)	2.88172676
17	Abnormal rod and cone electroretinograms (HP:0008323)	2.81375799
18	Intestinal atresia (HP:0011100)	2.79400762
19	Congenital stationary night blindness (HP:0007642)	2.78199587
20	Cystic liver disease (HP:0006706)	2.77967199
21	Polydipsia (HP:0001959)	2.75139925
22	Abnormal drinking behavior (HP:0030082)	2.75139925
23	Congenital primary aphakia (HP:0007707)	2.58043632
24	Cerebellar dysplasia (HP:0007033)	2.56820295
25	Hyperventilation (HP:0002883)	2.55358884
26	Gait imbalance (HP:0002141)	2.53594025
27	Large for gestational age (HP:0001520)	2.46629054
28	Abnormal biliary tract physiology (HP:0012439)	2.45081732
29	Bile duct proliferation (HP:0001408)	2.45081732
30	Nephrogenic diabetes insipidus (HP:0009806)	2.43248071
31	Gaze-evoked nystagmus (HP:0000640)	2.41991715
32	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.39512036
33	Congenital sensorineural hearing impairment (HP:0008527)	2.39369933
34	Ketosis (HP:0001946)	2.39179565
35	Male pseudohermaphroditism (HP:0000037)	2.35879831
36	Methylmalonic acidemia (HP:0002912)	2.34130582
37	Severe visual impairment (HP:0001141)	2.32546575
38	Polyuria (HP:0000103)	2.27064119
39	Genital tract atresia (HP:0001827)	2.25409017
40	Ketoacidosis (HP:0001993)	2.24287881
41	Furrowed tongue (HP:0000221)	2.21816513
42	Congenital hepatic fibrosis (HP:0002612)	2.20541687
43	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.20518993
44	Absent/shortened dynein arms (HP:0200106)	2.20518993
45	Abnormality of vitamin B metabolism (HP:0004340)	2.17318449
46	Occipital encephalocele (HP:0002085)	2.15752334
47	Progressive macrocephaly (HP:0004481)	2.15699038
48	Thyroiditis (HP:0100646)	2.13345407
49	Bony spicule pigmentary retinopathy (HP:0007737)	2.13302084
50	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.09723121
51	Hypoplasia of the fovea (HP:0007750)	2.09723121
52	Absent speech (HP:0001344)	2.08300166
53	Poor coordination (HP:0002370)	2.07688012
54	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.07391072
55	Tubulointerstitial abnormality (HP:0001969)	2.04598555
56	Acute necrotizing encephalopathy (HP:0006965)	2.03857994
57	Postaxial foot polydactyly (HP:0001830)	2.03079177
58	Abnormality of macular pigmentation (HP:0008002)	2.01711974
59	Methylmalonic aciduria (HP:0012120)	2.01693721
60	Abnormal urine output (HP:0012590)	1.98582532
61	Abnormality of the pons (HP:0007361)	1.97766267
62	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.97639149
63	Abnormal protein N-linked glycosylation (HP:0012347)	1.97639149
64	Abnormal protein glycosylation (HP:0012346)	1.97639149
65	Abnormal glycosylation (HP:0012345)	1.97639149
66	Anencephaly (HP:0002323)	1.96480919
67	Vaginal atresia (HP:0000148)	1.96401651
68	Metaphyseal dysplasia (HP:0100255)	1.95765208
69	Acute encephalopathy (HP:0006846)	1.94278359
70	Inability to walk (HP:0002540)	1.93512350
71	Hypoplasia of the pons (HP:0012110)	1.93265732
72	Abnormal respiratory motile cilium morphology (HP:0005938)	1.92535001
73	Abnormal respiratory epithelium morphology (HP:0012253)	1.92535001
74	Abolished electroretinogram (ERG) (HP:0000550)	1.92074973
75	Decreased central vision (HP:0007663)	1.89096406
76	Sclerocornea (HP:0000647)	1.87233930
77	Abnormality of renal excretion (HP:0011036)	1.86065201
78	Hypoalbuminemia (HP:0003073)	1.84866717
79	Abnormal albumin level (HP:0012116)	1.84866717
80	Fair hair (HP:0002286)	1.83687277
81	Stage 5 chronic kidney disease (HP:0003774)	1.82556241
82	Abnormal ciliary motility (HP:0012262)	1.82519927
83	Pendular nystagmus (HP:0012043)	1.81605836
84	Glycosuria (HP:0003076)	1.81595053
85	Abnormality of urine glucose concentration (HP:0011016)	1.81595053
86	Protruding tongue (HP:0010808)	1.80781232
87	Hyperglycinemia (HP:0002154)	1.80534504
88	Optic nerve hypoplasia (HP:0000609)	1.80251949
89	Keratoconus (HP:0000563)	1.79930392
90	Increased corneal curvature (HP:0100692)	1.79930392
91	Postaxial hand polydactyly (HP:0001162)	1.79567130
92	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.78843650
93	Gastrointestinal atresia (HP:0002589)	1.77616418
94	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.76649669
95	Progressive cerebellar ataxia (HP:0002073)	1.75150242
96	Median cleft lip (HP:0000161)	1.74914280
97	Widely spaced teeth (HP:0000687)	1.74850127
98	Short tibia (HP:0005736)	1.73722309
99	Mitochondrial inheritance (HP:0001427)	1.73524443
100	Disproportionate short-trunk short stature (HP:0003521)	1.72404472

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.58083563
2	MAP4K2	4.09541717
3	PINK1	3.63632134
4	ACVR1B	2.79914062
5	BMPR1B	2.58535530
6	GRK1	2.41492159
7	ADRBK2	2.37707519
8	ZAK	2.24422388
9	NUAK1	2.20320104
10	MST4	2.14313545
11	WNK3	2.05448874
12	FGFR2	1.93142463
13	AKT3	1.81879442
14	TLK1	1.79471282
15	TAOK3	1.69879454
16	PLK4	1.65631316
17	CASK	1.58696839
18	INSRR	1.57361387
19	PLK2	1.54542254
20	MAP3K4	1.53569329
21	PAK3	1.53445117
22	STK38L	1.48695267
23	MAPK13	1.39403207
24	MARK3	1.28811852
25	MAP2K7	1.25447839
26	TRIM28	1.17429269
27	WNK4	1.13181994
28	MKNK2	1.11041983
29	FER	1.09595785
30	ERBB3	1.08607518
31	PRKCE	1.04502101
32	MUSK	0.99318720
33	STK39	0.91048418
34	EPHA3	0.89986918
35	PTK2B	0.85385614
36	TRPM7	0.85201909
37	OXSR1	0.82293877
38	TNIK	0.82102520
39	CSNK1G1	0.81144756
40	BRSK2	0.79145661
41	NLK	0.77285633
42	NTRK3	0.76164436
43	DAPK2	0.76055190
44	TIE1	0.73704718
45	STK38	0.73570719
46	MAPK15	0.72624619
47	PHKG1	0.71887082
48	PHKG2	0.71887082
49	TNK2	0.71795345
50	VRK1	0.70021114
51	RPS6KA5	0.69880920
52	LATS1	0.66759195
53	OBSCN	0.65718156
54	PIK3CA	0.65585237
55	EIF2AK3	0.64813837
56	CSNK1A1L	0.64808242
57	PIK3CG	0.64373834
58	CDK3	0.63956205
59	CSNK1G3	0.63246098
60	CHUK	0.63087889
61	IKBKB	0.63038949
62	SGK2	0.62333407
63	PRKAA1	0.62067455
64	STK3	0.61607020
65	FGFR3	0.60179560
66	CDK8	0.59318110
67	MYLK	0.58818702
68	CSNK1G2	0.58693481
69	ADRBK1	0.58360643
70	PRKCQ	0.58163128
71	TXK	0.56662948
72	TEC	0.56604365
73	PRKCG	0.56534187
74	PNCK	0.55798604
75	CAMK1G	0.55431738
76	PRKAA2	0.54362658
77	CAMKK2	0.53581079
78	BCKDK	0.51625133
79	NEK2	0.49201409
80	PRKG1	0.47327389
81	SGK494	0.47109415
82	SGK223	0.47109415
83	IRAK1	0.47080410
84	TGFBR1	0.45977684
85	CSNK1A1	0.44301184
86	MAP2K6	0.41705779
87	CAMK1	0.40053571
88	PRKCI	0.39444462
89	SRPK1	0.39400920
90	ATM	0.38804803
91	ROCK1	0.37584891
92	MKNK1	0.37327482
93	MAPKAPK3	0.36504080
94	PRKACA	0.34066110
95	MAP3K7	0.30939983
96	HIPK2	0.30586436
97	PKN1	0.28626667
98	NEK6	0.28383094
99	BCR	0.28281643
100	CCNB1	0.27513830

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.25392155
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.12497643
3	Butanoate metabolism_Homo sapiens_hsa00650	2.92772411
4	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.58518704
5	Phototransduction_Homo sapiens_hsa04744	2.30442555
6	Protein export_Homo sapiens_hsa03060	2.30246086
7	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.28773444
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.26636010
9	Selenocompound metabolism_Homo sapiens_hsa00450	2.19847887
10	Linoleic acid metabolism_Homo sapiens_hsa00591	2.07071731
11	Caffeine metabolism_Homo sapiens_hsa00232	2.00694849
12	Propanoate metabolism_Homo sapiens_hsa00640	1.98865181
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.87301965
14	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.82727760
15	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.77089847
16	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.75942772
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.72522190
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.70234610
19	Chemical carcinogenesis_Homo sapiens_hsa05204	1.69538976
20	Tryptophan metabolism_Homo sapiens_hsa00380	1.66658039
21	Olfactory transduction_Homo sapiens_hsa04740	1.62008427
22	Basal transcription factors_Homo sapiens_hsa03022	1.57375387
23	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.56951515
24	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.53754839
25	Circadian rhythm_Homo sapiens_hsa04710	1.53656308
26	ABC transporters_Homo sapiens_hsa02010	1.52567327
27	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.51714131
28	Fanconi anemia pathway_Homo sapiens_hsa03460	1.47718213
29	Retinol metabolism_Homo sapiens_hsa00830	1.47263151
30	Peroxisome_Homo sapiens_hsa04146	1.42379293
31	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.40644369
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.33962283
33	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.29596511
34	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.29269462
35	Regulation of autophagy_Homo sapiens_hsa04140	1.21177125
36	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.19900091
37	Insulin secretion_Homo sapiens_hsa04911	1.17313111
38	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.12975815
39	Oxidative phosphorylation_Homo sapiens_hsa00190	1.11490673
40	Homologous recombination_Homo sapiens_hsa03440	1.11394750
41	Taste transduction_Homo sapiens_hsa04742	1.10702906
42	RNA degradation_Homo sapiens_hsa03018	1.05375073
43	Mineral absorption_Homo sapiens_hsa04978	0.98121319
44	Fatty acid degradation_Homo sapiens_hsa00071	0.97323538
45	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.95584897
46	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.94711822
47	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.90147037
48	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.89520691
49	One carbon pool by folate_Homo sapiens_hsa00670	0.86940596
50	Sulfur metabolism_Homo sapiens_hsa00920	0.81193438
51	Nicotine addiction_Homo sapiens_hsa05033	0.81101194
52	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.81013160
53	Fatty acid metabolism_Homo sapiens_hsa01212	0.78338401
54	beta-Alanine metabolism_Homo sapiens_hsa00410	0.77774171
55	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.76813932
56	Fat digestion and absorption_Homo sapiens_hsa04975	0.76648571
57	RNA polymerase_Homo sapiens_hsa03020	0.74937238
58	Sphingolipid metabolism_Homo sapiens_hsa00600	0.74927186
59	Metabolic pathways_Homo sapiens_hsa01100	0.74913212
60	Fatty acid elongation_Homo sapiens_hsa00062	0.71607349
61	Histidine metabolism_Homo sapiens_hsa00340	0.70956852
62	Collecting duct acid secretion_Homo sapiens_hsa04966	0.68606925
63	Arginine biosynthesis_Homo sapiens_hsa00220	0.68584119
64	Renin secretion_Homo sapiens_hsa04924	0.67873422
65	Salivary secretion_Homo sapiens_hsa04970	0.65275768
66	Glycerolipid metabolism_Homo sapiens_hsa00561	0.63732627
67	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.63599078
68	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.63241118
69	Steroid biosynthesis_Homo sapiens_hsa00100	0.59537921
70	Parkinsons disease_Homo sapiens_hsa05012	0.59138144
71	Serotonergic synapse_Homo sapiens_hsa04726	0.58691633
72	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.58672128
73	Circadian entrainment_Homo sapiens_hsa04713	0.58092604
74	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.55932427
75	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.55300540
76	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.54590586
77	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.54479517
78	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.52331469
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.52010516
80	Glutathione metabolism_Homo sapiens_hsa00480	0.51120690
81	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50321461
82	Purine metabolism_Homo sapiens_hsa00230	0.49864181
83	Type I diabetes mellitus_Homo sapiens_hsa04940	0.48975932
84	Complement and coagulation cascades_Homo sapiens_hsa04610	0.48939307
85	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.48673656
86	Type II diabetes mellitus_Homo sapiens_hsa04930	0.48627684
87	Lysine degradation_Homo sapiens_hsa00310	0.48403393
88	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.48141316
89	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.47367823
90	Arginine and proline metabolism_Homo sapiens_hsa00330	0.46512712
91	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.46262520
92	Tyrosine metabolism_Homo sapiens_hsa00350	0.41457740
93	Non-homologous end-joining_Homo sapiens_hsa03450	0.39972284
94	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.38587331
95	PPAR signaling pathway_Homo sapiens_hsa03320	0.37855538
96	Morphine addiction_Homo sapiens_hsa05032	0.37346148
97	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.37083774
98	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.36943462
99	Amphetamine addiction_Homo sapiens_hsa05031	0.36916969
100	GABAergic synapse_Homo sapiens_hsa04727	0.36190027

PDXDC2P

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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