ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	4-hydroxyproline metabolic process (GO:0019471)	6.35131651
2	peptidyl-proline hydroxylation (GO:0019511)	5.41978302
3	protein hydroxylation (GO:0018126)	5.18872534
4	intestinal cholesterol absorption (GO:0030299)	5.13441013
5	toxin transport (GO:1901998)	4.73788666
6	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	4.64834625
7	artery smooth muscle contraction (GO:0014824)	4.61450744
8	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	4.38439954
9	L-phenylalanine metabolic process (GO:0006558)	4.38439954
10	regulation of mesenchymal cell apoptotic process (GO:2001053)	4.31637700
11	labyrinthine layer development (GO:0060711)	4.12210646
12	xenobiotic catabolic process (GO:0042178)	4.08513138
13	tonic smooth muscle contraction (GO:0014820)	4.01638936
14	heart trabecula formation (GO:0060347)	3.91655439
15	succinate metabolic process (GO:0006105)	3.82386399
16	L-alpha-amino acid transmembrane transport (GO:1902475)	3.67714515
17	high-density lipoprotein particle remodeling (GO:0034375)	3.67479294
18	nephron tubule formation (GO:0072079)	3.67298738
19	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199	3.66792718
20	positive regulation of digestive system process (GO:0060456)	3.53856206
21	positive regulation of hormone metabolic process (GO:0032352)	3.53659988
22	daunorubicin metabolic process (GO:0044597)	3.53184438
23	polyketide metabolic process (GO:0030638)	3.53184438
24	doxorubicin metabolic process (GO:0044598)	3.53184438
25	drug transmembrane transport (GO:0006855)	3.50356984
26	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.50114874
27	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.50114874
28	nephron epithelium morphogenesis (GO:0072088)	3.48417625
29	nephron tubule morphogenesis (GO:0072078)	3.48417625
30	L-phenylalanine catabolic process (GO:0006559)	3.42816687
31	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.42816687
32	reverse cholesterol transport (GO:0043691)	3.42240482
33	cholesterol efflux (GO:0033344)	3.40325187
34	response to nitric oxide (GO:0071731)	3.35145237
35	macromolecular complex remodeling (GO:0034367)	3.32647743
36	plasma lipoprotein particle remodeling (GO:0034369)	3.32647743
37	protein-lipid complex remodeling (GO:0034368)	3.32647743
38	peptidyl-arginine omega-N-methylation (GO:0035247)	3.25329376
39	GDP-mannose metabolic process (GO:0019673)	3.24685895
40	pharyngeal system development (GO:0060037)	3.16657426
41	ventricular septum morphogenesis (GO:0060412)	3.15787093
42	aminoglycoside antibiotic metabolic process (GO:0030647)	3.13250479
43	very-low-density lipoprotein particle assembly (GO:0034379)	3.11480871
44	low-density lipoprotein particle remodeling (GO:0034374)	3.10951780
45	plasma lipoprotein particle clearance (GO:0034381)	3.09459785
46	phasic smooth muscle contraction (GO:0014821)	3.07369072
47	carnitine transmembrane transport (GO:1902603)	3.04737897
48	digestion (GO:0007586)	3.03580370
49	regulation of cholesterol esterification (GO:0010872)	3.01941147
50	protein carboxylation (GO:0018214)	3.00803509
51	peptidyl-glutamic acid carboxylation (GO:0017187)	3.00803509
52	amino-acid betaine transport (GO:0015838)	3.00601374
53	carnitine transport (GO:0015879)	3.00601374
54	ribosomal small subunit assembly (GO:0000028)	2.99773926
55	tricarboxylic acid cycle (GO:0006099)	2.97326965
56	lung epithelium development (GO:0060428)	2.97115478
57	organic cation transport (GO:0015695)	2.90427814
58	negative regulation of epidermal cell differentiation (GO:0045605)	2.88358634
59	plasma lipoprotein particle assembly (GO:0034377)	2.87577356
60	negative regulation of activin receptor signaling pathway (GO:0032926)	2.86159787
61	vascular smooth muscle contraction (GO:0014829)	2.86126762
62	cellular zinc ion homeostasis (GO:0006882)	2.84951407
63	cholesterol transport (GO:0030301)	2.78114935
64	sterol transport (GO:0015918)	2.78114935
65	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.76860661
66	branching involved in salivary gland morphogenesis (GO:0060445)	2.76805555
67	low-density lipoprotein particle clearance (GO:0034383)	2.75088924
68	regulation of bile acid biosynthetic process (GO:0070857)	2.74957615
69	regulation of cell-cell adhesion mediated by cadherin (GO:2000047)	2.73939787
70	positive regulation of mitochondrial fission (GO:0090141)	2.71242185
71	macroautophagy (GO:0016236)	2.70297569
72	plasma lipoprotein particle organization (GO:0071827)	2.70083834
73	proteasome assembly (GO:0043248)	2.68698238
74	nucleoside bisphosphate metabolic process (GO:0033865)	2.68396591
75	purine nucleoside bisphosphate metabolic process (GO:0034032)	2.68396591
76	ribonucleoside bisphosphate metabolic process (GO:0033875)	2.68396591
77	regulation of apoptotic cell clearance (GO:2000425)	2.67964747
78	heparan sulfate proteoglycan biosynthetic process (GO:0015012)	2.67722416
79	coenzyme catabolic process (GO:0009109)	2.67665948
80	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	2.67167575
81	negative regulation of sterol transport (GO:0032372)	2.67028353
82	negative regulation of cholesterol transport (GO:0032375)	2.67028353
83	mannosylation (GO:0097502)	2.66685819
84	quaternary ammonium group transport (GO:0015697)	2.66595288
85	negative regulation of epidermis development (GO:0045683)	2.64849801
86	intestinal absorption (GO:0050892)	2.63124236
87	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.63015235
88	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.62493065
89	positive regulation of hormone biosynthetic process (GO:0046886)	2.60989579
90	cardiac septum morphogenesis (GO:0060411)	2.60945804
91	rRNA transcription (GO:0009303)	2.59974801
92	positive regulation of smoothened signaling pathway (GO:0045880)	2.59641658
93	positive regulation of megakaryocyte differentiation (GO:0045654)	2.55692159
94	regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)	2.55075809
95	drug transport (GO:0015893)	2.54777539
96	regulation of heterotypic cell-cell adhesion (GO:0034114)	2.54729698
97	establishment of planar polarity (GO:0001736)	2.53904493
98	establishment of tissue polarity (GO:0007164)	2.53904493
99	peristalsis (GO:0030432)	2.53006265
100	energy homeostasis (GO:0097009)	2.52668537

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA1_22025678_ChIP-Seq_K562_Human	6.18413148
2	STAT6_21828071_ChIP-Seq_BEAS2B_Human	5.04059133
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.84792066
4	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.95854846
5	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	3.92942333
6	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.23667093
7	ESR1_21235772_ChIP-Seq_MCF-7_Human	3.19346402
8	ESR1_15608294_ChIP-ChIP_MCF-7_Human	3.14806918
9	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.94729578
10	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.67465177
11	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.61328789
12	RXR_22158963_ChIP-Seq_LIVER_Mouse	2.50821743
13	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.50434949
14	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	2.30904609
15	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	2.24450784
16	PPARA_22158963_ChIP-Seq_LIVER_Mouse	2.16445582
17	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.16389498
18	LXR_22158963_ChIP-Seq_LIVER_Mouse	2.02528976
19	GATA6_25053715_ChIP-Seq_YYC3_Human	1.91189869
20	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.90077738
21	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.84492406
22	ZNF263_19887448_ChIP-Seq_K562_Human	1.82185866
23	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.81546657
24	SOX2_20726797_ChIP-Seq_SW620_Human	1.73871231
25	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.72955399
26	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.66912549
27	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.66820039
28	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.65963638
29	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.64221072
30	GATA4_25053715_ChIP-Seq_YYC3_Human	1.62246746
31	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.60762770
32	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.56356668
33	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.55886466
34	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.55671072
35	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.52283420
36	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.50565050
37	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.47517068
38	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.43779710
39	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.42717880
40	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.40098000
41	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.39487706
42	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.38080838
43	ELF5_23300383_ChIP-Seq_T47D_Human	1.37735452
44	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.36960957
45	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.36106699
46	HNF4A_19822575_ChIP-Seq_HepG2_Human	1.34657218
47	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.33774699
48	GABP_19822575_ChIP-Seq_HepG2_Human	1.32069491
49	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.31479897
50	DCP1A_22483619_ChIP-Seq_HELA_Human	1.27944616
51	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.26682528
52	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.24254193
53	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.23245072
54	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.22518610
55	TP53_22127205_ChIP-Seq_IMR90_Human	1.21578417
56	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.17868919
57	ATF3_27146783_Chip-Seq_COLON_Human	1.17545244
58	KDM5A_27292631_Chip-Seq_BREAST_Human	1.16457464
59	XRN2_22483619_ChIP-Seq_HELA_Human	1.16129777
60	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.15237983
61	TBX5_21415370_ChIP-Seq_HL-1_Mouse	1.14691445
62	FOXP3_21729870_ChIP-Seq_TREG_Human	1.13948111
63	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.09609972
64	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.08958776
65	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.07543981
66	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.07329200
67	AHR_22903824_ChIP-Seq_MCF-7_Human	1.06970887
68	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.05615252
69	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.04681550
70	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.00846428
71	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.00702535
72	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.99994704
73	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.96715992
74	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	0.95221537
75	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.95195500
76	GBX2_23144817_ChIP-Seq_PC3_Human	0.93072556
77	CTCF_18555785_ChIP-Seq_MESCs_Mouse	0.92781504
78	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.92573502
79	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.91416683
80	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.90649382
81	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	0.88633594
82	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	0.88521039
83	TRIM28_21343339_ChIP-Seq_HEK293_Human	0.88189264
84	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.87601409
85	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.87601409
86	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.86914282
87	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.85947498
88	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.85242318
89	* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.85171895
90	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.84820109
91	NANOG_21062744_ChIP-ChIP_HESCs_Human	0.84160657
92	TTF2_22483619_ChIP-Seq_HELA_Human	0.81991307
93	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.81736637
94	* FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.81638564
95	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.81542896
96	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	0.81493427
97	CJUN_26792858_Chip-Seq_BT549_Human	0.80320928
98	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	0.80120446
99	EOMES_21245162_ChIP-Seq_HESCs_Human	0.79962226
100	MYC_18940864_ChIP-ChIP_HL60_Human	0.79237830

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000566_synostosis	4.46691632
2	MP0005083_abnormal_biliary_tract	4.12887896
3	MP0005365_abnormal_bile_salt	3.70914595
4	MP0003195_calcinosis	3.56631477
5	MP0009780_abnormal_chondrocyte_physiolo	3.46883112
6	MP0005084_abnormal_gallbladder_morpholo	3.26896445
7	MP0001666_abnormal_nutrient_absorption	3.19278506
8	MP0002139_abnormal_hepatobiliary_system	3.01022253
9	MP0009840_abnormal_foam_cell	2.89403813
10	MP0000569_abnormal_digit_pigmentation	2.81114494
11	MP0005085_abnormal_gallbladder_physiolo	2.77939495
12	MP0010386_abnormal_urinary_bladder	2.66479413
13	MP0003283_abnormal_digestive_organ	2.50800583
14	MP0000383_abnormal_hair_follicle	2.34602563
15	MP0002837_dystrophic_cardiac_calcinosis	2.29812607
16	MP0005408_hypopigmentation	2.29491864
17	MP0010678_abnormal_skin_adnexa	2.19133729
18	MP0003252_abnormal_bile_duct	2.18954269
19	MP0003806_abnormal_nucleotide_metabolis	2.12141293
20	MP0003122_maternal_imprinting	2.02113832
21	MP0003868_abnormal_feces_composition	1.97213799
22	MP0002938_white_spotting	1.96688208
23	MP0010329_abnormal_lipoprotein_level	1.85256840
24	MP0000613_abnormal_salivary_gland	1.82801725
25	MP0003942_abnormal_urinary_system	1.77336689
26	MP0005379_endocrine/exocrine_gland_phen	1.75768753
27	MP0002132_abnormal_respiratory_system	1.73698506
28	MP0005332_abnormal_amino_acid	1.72615703
29	MP0002254_reproductive_system_inflammat	1.69534828
30	MP0000462_abnormal_digestive_system	1.68143339
31	MP0002138_abnormal_hepatobiliary_system	1.67561527
32	MP0005058_abnormal_lysosome_morphology	1.58453812
33	MP0001944_abnormal_pancreas_morphology	1.54019946
34	MP0008875_abnormal_xenobiotic_pharmacok	1.52974493
35	MP0002160_abnormal_reproductive_system	1.44518968
36	MP0008995_early_reproductive_senescence	1.40112281
37	MP0000538_abnormal_urinary_bladder	1.35280097
38	MP0004264_abnormal_extraembryonic_tissu	1.31047093
39	MP0005360_urolithiasis	1.24192962
40	MP0002876_abnormal_thyroid_physiology	1.23777570
41	MP0005220_abnormal_exocrine_pancreas	1.22960850
42	MP0000678_abnormal_parathyroid_gland	1.22432964
43	MP0001756_abnormal_urination	1.21209566
44	MP0003121_genomic_imprinting	1.18070070
45	MP0003941_abnormal_skin_development	1.16975467
46	MP0002234_abnormal_pharynx_morphology	1.15602026
47	MP0002282_abnormal_trachea_morphology	1.10454944
48	MP0000534_abnormal_ureter_morphology	1.08419142
49	MP0000639_abnormal_adrenal_gland	1.08068759
50	MP0002928_abnormal_bile_duct	1.06012114
51	MP0003123_paternal_imprinting	1.05014658
52	MP0009053_abnormal_anal_canal	1.00133648
53	MP0004019_abnormal_vitamin_homeostasis	0.96649842
54	MP0008961_abnormal_basal_metabolism	0.94166288
55	MP0000013_abnormal_adipose_tissue	0.93824502
56	MP0002909_abnormal_adrenal_gland	0.91676547
57	MP0003950_abnormal_plasma_membrane	0.91562860
58	MP0005636_abnormal_mineral_homeostasis	0.89541864
59	MP0002089_abnormal_postnatal_growth/wei	0.87961304
60	MP0003755_abnormal_palate_morphology	0.87234207
61	MP0002118_abnormal_lipid_homeostasis	0.85160306
62	MP0004233_abnormal_muscle_weight	0.84527097
63	MP0009046_muscle_twitch	0.84347657
64	MP0004272_abnormal_basement_membrane	0.83301108
65	MP0004484_altered_response_of	0.81461503
66	MP0010234_abnormal_vibrissa_follicle	0.79372599
67	MP0000681_abnormal_thyroid_gland	0.78915945
68	MP0008007_abnormal_cellular_replicative	0.77413705
69	MP0003718_maternal_effect	0.77352074
70	MP0001661_extended_life_span	0.75065247
71	MP0000598_abnormal_liver_morphology	0.74018727
72	MP0001873_stomach_inflammation	0.73858005
73	MP0005187_abnormal_penis_morphology	0.73152204
74	MP0002078_abnormal_glucose_homeostasis	0.72319420
75	MP0002751_abnormal_autonomic_nervous	0.72279910
76	MP0000371_diluted_coat_color	0.71553875
77	MP0005646_abnormal_pituitary_gland	0.70032852
78	MP0005389_reproductive_system_phenotype	0.69407989
79	MP0004134_abnormal_chest_morphology	0.69115993
80	MP0005330_cardiomyopathy	0.68853543
81	MP0003943_abnormal_hepatobiliary_system	0.66565826
82	MP0003115_abnormal_respiratory_system	0.66284135
83	MP0003786_premature_aging	0.66078669
84	MP0003953_abnormal_hormone_level	0.66037124
85	MP0000003_abnormal_adipose_tissue	0.65880556
86	MP0003959_abnormal_lean_body	0.65785955
87	MP0000049_abnormal_middle_ear	0.64165613
88	MP0000631_abnormal_neuroendocrine_gland	0.63836333
89	MP0006035_abnormal_mitochondrial_morpho	0.63219252
90	MP0009643_abnormal_urine_homeostasis	0.62913653
91	MP0005448_abnormal_energy_balance	0.62801626
92	MP0001145_abnormal_male_reproductive	0.62479495
93	MP0005174_abnormal_tail_pigmentation	0.62090414
94	MP0003315_abnormal_perineum_morphology	0.61995567
95	MP0005670_abnormal_white_adipose	0.61183793
96	MP0000467_abnormal_esophagus_morphology	0.60920327
97	MP0000609_abnormal_liver_physiology	0.60438950
98	MP0003567_abnormal_fetal_cardiomyocyte	0.59438632
99	MP0000920_abnormal_myelination	0.56896975
100	MP0002163_abnormal_gland_morphology	0.56631700

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperventilation (HP:0002883)	5.82204117
2	Methylmalonic aciduria (HP:0012120)	4.55904569
3	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.42962322
4	Humeroradial synostosis (HP:0003041)	3.74601127
5	Synostosis involving the elbow (HP:0003938)	3.74601127
6	Prolonged partial thromboplastin time (HP:0003645)	3.65107103
7	Cerebellar dysplasia (HP:0007033)	3.59175287
8	Vascular calcification (HP:0004934)	3.38161023
9	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	3.33485869
10	Short 1st metacarpal (HP:0010034)	3.24716399
11	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	3.24716399
12	Deep venous thrombosis (HP:0002625)	3.13950143
13	Onycholysis (HP:0001806)	2.98601198
14	Abnormality of the 1st metacarpal (HP:0010009)	2.98490018
15	Cardiovascular calcification (HP:0011915)	2.89558785
16	Steatorrhea (HP:0002570)	2.86142791
17	Hypobetalipoproteinemia (HP:0003563)	2.85544241
18	Loss of speech (HP:0002371)	2.82267273
19	Reduced antithrombin III activity (HP:0001976)	2.81088219
20	Abnormality of the pons (HP:0007361)	2.68996857
21	Vertebral hypoplasia (HP:0008417)	2.67069031
22	Aplasia/Hypoplasia of the vertebrae (HP:0008515)	2.67069031
23	Type I transferrin isoform profile (HP:0003642)	2.64954770
24	Dicarboxylic aciduria (HP:0003215)	2.63924721
25	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.63924721
26	Glycosuria (HP:0003076)	2.63687225
27	Abnormality of urine glucose concentration (HP:0011016)	2.63687225
28	Fat malabsorption (HP:0002630)	2.62590332
29	Amblyopia (HP:0000646)	2.60567953
30	Microretrognathia (HP:0000308)	2.59804066
31	Hypoplasia of the pons (HP:0012110)	2.59645180
32	Confusion (HP:0001289)	2.53333751
33	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.51933051
34	Abnormal protein N-linked glycosylation (HP:0012347)	2.51933051
35	Abnormal protein glycosylation (HP:0012346)	2.51933051
36	Abnormal glycosylation (HP:0012345)	2.51933051
37	Cortical visual impairment (HP:0100704)	2.51133250
38	Enlarged kidneys (HP:0000105)	2.43944637
39	Right ventricular cardiomyopathy (HP:0011663)	2.43790502
40	Abnormality of glycolysis (HP:0004366)	2.43375268
41	Vacuolated lymphocytes (HP:0001922)	2.41592058
42	Urinary glycosaminoglycan excretion (HP:0003541)	2.39702148
43	Mucopolysacchariduria (HP:0008155)	2.39702148
44	Facial shape deformation (HP:0011334)	2.39553565
45	Potter facies (HP:0002009)	2.39553565
46	Xanthomatosis (HP:0000991)	2.36739849
47	Hyperammonemia (HP:0001987)	2.35242108
48	Hypomagnesemia (HP:0002917)	2.29979412
49	Hyperglycinemia (HP:0002154)	2.26860445
50	Abnormality of mucopolysaccharide metabolism (HP:0011020)	2.26408055
51	Abnormality of polysaccharide metabolism (HP:0011012)	2.26408055
52	Abnormality of glycosaminoglycan metabolism (HP:0004371)	2.26408055
53	Respiratory failure (HP:0002878)	2.25384494
54	Increased serum pyruvate (HP:0003542)	2.24097997
55	Epidermoid cyst (HP:0200040)	2.15599006
56	Polycythemia (HP:0001901)	2.15456563
57	Abnormality of fatty-acid metabolism (HP:0004359)	2.12056762
58	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	2.11404729
59	Hypoplasia of the uterus (HP:0000013)	2.09806345
60	Joint hemorrhage (HP:0005261)	2.06106162
61	Short phalanx of the thumb (HP:0009660)	2.02283450
62	Acute encephalopathy (HP:0006846)	2.00798976
63	Absent eyebrow (HP:0002223)	1.99343694
64	Abnormal tarsal ossification (HP:0008369)	1.98008735
65	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.97996646
66	Hypoglycemic coma (HP:0001325)	1.97368303
67	Unilateral renal agenesis (HP:0000122)	1.93343564
68	Abnormality of renal resorption (HP:0011038)	1.92670385
69	Aplasia/hypoplasia of the uterus (HP:0008684)	1.92557297
70	Abnormality of the middle phalanges of the toes (HP:0010183)	1.88868491
71	Abnormal sex determination (HP:0012244)	1.88027279
72	Sex reversal (HP:0012245)	1.88027279
73	Hepatic necrosis (HP:0002605)	1.88016151
74	Type II lissencephaly (HP:0007260)	1.87154236
75	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.86955578
76	Gonadal dysgenesis (HP:0000133)	1.85676385
77	Pancreatic cysts (HP:0001737)	1.84159299
78	Abnormality of renal excretion (HP:0011036)	1.83737125
79	Abnormality of alanine metabolism (HP:0010916)	1.82988730
80	Hyperalaninemia (HP:0003348)	1.82988730
81	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.82988730
82	Abnormality of the renal medulla (HP:0100957)	1.81639240
83	Respiratory distress (HP:0002098)	1.81147071
84	Prolonged neonatal jaundice (HP:0006579)	1.80315690
85	Symphalangism affecting the phalanges of the hand (HP:0009773)	1.80059807
86	Bicornuate uterus (HP:0000813)	1.79229934
87	Abnormality of the vitreous humor (HP:0004327)	1.79085811
88	Occipital encephalocele (HP:0002085)	1.77671876
89	Facial cleft (HP:0002006)	1.77603563
90	Increased CSF protein (HP:0002922)	1.77176299
91	Hypophosphatemia (HP:0002148)	1.76807722
92	Abnormality of magnesium homeostasis (HP:0004921)	1.74985140
93	Short hallux (HP:0010109)	1.74618335
94	Acute necrotizing encephalopathy (HP:0006965)	1.73623101
95	Abnormal mitochondria in muscle tissue (HP:0008316)	1.73120139
96	Cystic liver disease (HP:0006706)	1.73051373
97	Hypolipoproteinemia (HP:0010981)	1.73044290
98	Broad distal phalanx of finger (HP:0009836)	1.71155485
99	Cardiomegaly (HP:0001640)	1.71101189
100	Unsteady gait (HP:0002317)	1.68434462

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PBK	6.12107494
2	SCYL2	3.48242819
3	TAOK3	3.00011923
4	CDK8	2.96647061
5	PNCK	2.83124410
6	FGFR4	2.64358446
7	PDK2	2.48575496
8	TAF1	2.33093898
9	EPHA2	2.25558810
10	STK39	2.25552544
11	CASK	2.08730152
12	TGFBR2	2.07506045
13	FGFR2	2.04689114
14	TSSK6	1.99803048
15	GRK7	1.94515718
16	VRK2	1.94263454
17	GRK1	1.85468794
18	MAP3K12	1.83106185
19	STK38L	1.73846165
20	MAP3K4	1.68774622
21	ZAK	1.55588870
22	MUSK	1.52724822
23	CSNK1G3	1.50379110
24	BCKDK	1.47069334
25	MAPK7	1.42122063
26	CSNK1A1L	1.38486844
27	MAP2K3	1.37439313
28	OXSR1	1.36705561
29	NME2	1.33560208
30	FGFR3	1.31659400
31	CSNK1G1	1.26867133
32	RPS6KB2	1.26498610
33	MAP3K3	1.24489751
34	MAP2K6	1.21389955
35	SMG1	1.19130504
36	FRK	1.16552180
37	MST4	1.11707544
38	WNK4	1.06934197
39	PIK3CA	1.05382908
40	VRK1	1.01546942
41	FGFR1	0.99219679
42	CSNK1G2	0.98536286
43	LIMK1	0.97233491
44	TLK1	0.96844825
45	TRIB3	0.94228182
46	MAP3K6	0.94082272
47	IRAK3	0.90590645
48	STK16	0.84389917
49	RET	0.83221775
50	PLK4	0.74213981
51	CHUK	0.73750524
52	DAPK3	0.71885249
53	MYLK	0.68593556
54	WEE1	0.65252454
55	PDPK1	0.64768611
56	AKT2	0.64663127
57	MAP2K4	0.64502868
58	RPS6KB1	0.63022094
59	BRSK1	0.62912297
60	PTK2	0.62344906
61	STK4	0.62304968
62	MAPKAPK3	0.62167045
63	SIK1	0.60615125
64	MAPK15	0.60240422
65	NEK6	0.59639608
66	ADRBK1	0.58704304
67	DYRK1B	0.55747324
68	DAPK1	0.55439341
69	ERBB2	0.55115842
70	PRKCE	0.55111898
71	CAMK2D	0.53663967
72	ICK	0.52692271
73	PLK2	0.51641966
74	ILK	0.50763818
75	GRK5	0.49764347
76	PRKCI	0.49210410
77	AKT3	0.48763432
78	CAMK1G	0.48593140
79	CSNK1D	0.47915075
80	LRRK2	0.45601845
81	BRSK2	0.45481136
82	NUAK1	0.45160403
83	MAP3K2	0.44369160
84	STK10	0.43731734
85	PIM2	0.42901488
86	PLK3	0.42867355
87	PDK1	0.40543644
88	AURKA	0.38465605
89	CSNK2A1	0.37560116
90	TRIM28	0.37403446
91	BRD4	0.37248866
92	CSNK2A2	0.36878586
93	CDC42BPA	0.36118010
94	PRKCG	0.34481429
95	SGK3	0.34193114
96	MELK	0.33316632
97	PASK	0.32502471
98	MAP3K1	0.29615275
99	CSNK1E	0.29598288
100	FER	0.29337673

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.58831220
2	Propanoate metabolism_Homo sapiens_hsa00640	3.08826527
3	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.04787874
4	Fat digestion and absorption_Homo sapiens_hsa04975	2.53545847
5	Sulfur metabolism_Homo sapiens_hsa00920	2.50072679
6	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.28170018
7	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.27060668
8	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.09808111
9	Oxidative phosphorylation_Homo sapiens_hsa00190	1.94779714
10	Proteasome_Homo sapiens_hsa03050	1.94580236
11	Ribosome_Homo sapiens_hsa03010	1.86698008
12	Folate biosynthesis_Homo sapiens_hsa00790	1.83219894
13	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.83135644
14	Fatty acid elongation_Homo sapiens_hsa00062	1.83022994
15	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.80502740
16	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.80285964
17	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.78439943
18	Galactose metabolism_Homo sapiens_hsa00052	1.73457757
19	Peroxisome_Homo sapiens_hsa04146	1.71881655
20	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.69215873
21	Complement and coagulation cascades_Homo sapiens_hsa04610	1.63339656
22	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.53087872
23	Arginine and proline metabolism_Homo sapiens_hsa00330	1.46504920
24	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.45929704
25	Retinol metabolism_Homo sapiens_hsa00830	1.41879373
26	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.40202258
27	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.39715321
28	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.37535610
29	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.35740978
30	Steroid biosynthesis_Homo sapiens_hsa00100	1.34770525
31	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.34587086
32	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.33164419
33	Sphingolipid metabolism_Homo sapiens_hsa00600	1.31305930
34	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.29458962
35	One carbon pool by folate_Homo sapiens_hsa00670	1.28026439
36	Parkinsons disease_Homo sapiens_hsa05012	1.22962157
37	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.22674175
38	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.19520630
39	Carbon metabolism_Homo sapiens_hsa01200	1.19218412
40	Fatty acid degradation_Homo sapiens_hsa00071	1.18676121
41	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.16859021
42	Chemical carcinogenesis_Homo sapiens_hsa05204	1.14862996
43	Other glycan degradation_Homo sapiens_hsa00511	1.13714914
44	Sulfur relay system_Homo sapiens_hsa04122	1.13464277
45	Arginine biosynthesis_Homo sapiens_hsa00220	1.12850959
46	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.10003055
47	ABC transporters_Homo sapiens_hsa02010	1.06965099
48	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.06153631
49	Fatty acid metabolism_Homo sapiens_hsa01212	1.05682760
50	Glutathione metabolism_Homo sapiens_hsa00480	1.04791671
51	Pancreatic secretion_Homo sapiens_hsa04972	1.01852058
52	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.00385310
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97874176
54	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.97621321
55	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.95091868
56	Metabolic pathways_Homo sapiens_hsa01100	0.93979486
57	Selenocompound metabolism_Homo sapiens_hsa00450	0.93404522
58	RNA polymerase_Homo sapiens_hsa03020	0.93163431
59	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.92774013
60	Alzheimers disease_Homo sapiens_hsa05010	0.92669993
61	beta-Alanine metabolism_Homo sapiens_hsa00410	0.90465356
62	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.88245635
63	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.87493375
64	Fanconi anemia pathway_Homo sapiens_hsa03460	0.87333399
65	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.86315158
66	Tryptophan metabolism_Homo sapiens_hsa00380	0.84843473
67	Huntingtons disease_Homo sapiens_hsa05016	0.84503372
68	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.79732525
69	Butanoate metabolism_Homo sapiens_hsa00650	0.78002195
70	Pyrimidine metabolism_Homo sapiens_hsa00240	0.76145116
71	Vibrio cholerae infection_Homo sapiens_hsa05110	0.76041195
72	PPAR signaling pathway_Homo sapiens_hsa03320	0.74850537
73	Collecting duct acid secretion_Homo sapiens_hsa04966	0.71615633
74	RNA degradation_Homo sapiens_hsa03018	0.68965155
75	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.67003182
76	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.66958176
77	Protein export_Homo sapiens_hsa03060	0.65310679
78	Tight junction_Homo sapiens_hsa04530	0.65005469
79	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.63555352
80	Mineral absorption_Homo sapiens_hsa04978	0.59741363
81	Ether lipid metabolism_Homo sapiens_hsa00565	0.57043280
82	Protein digestion and absorption_Homo sapiens_hsa04974	0.56832554
83	Tyrosine metabolism_Homo sapiens_hsa00350	0.55760796
84	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.53373927
85	Basal cell carcinoma_Homo sapiens_hsa05217	0.52767945
86	Phenylalanine metabolism_Homo sapiens_hsa00360	0.49244732
87	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.48479095
88	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.47341912
89	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.45941289
90	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.44595200
91	Nitrogen metabolism_Homo sapiens_hsa00910	0.41793505
92	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.41492306
93	Purine metabolism_Homo sapiens_hsa00230	0.40474381
94	Lysosome_Homo sapiens_hsa04142	0.38634093
95	DNA replication_Homo sapiens_hsa03030	0.38178589
96	Linoleic acid metabolism_Homo sapiens_hsa00591	0.37572282
97	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.35511418
98	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.35475254
99	Pentose phosphate pathway_Homo sapiens_hsa00030	0.34678646
100	Lysine degradation_Homo sapiens_hsa00310	0.34608183

KAAG1

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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