ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axonemal dynein complex assembly (GO:0070286)	7.28793823
2	cilium or flagellum-dependent cell motility (GO:0001539)	6.38783772
3	sperm capacitation (GO:0048240)	6.04806343
4	intestinal epithelial cell development (GO:0060576)	5.86453639
5	cilium movement (GO:0003341)	4.96307759
6	motile cilium assembly (GO:0044458)	4.81484128
7	ethanol metabolic process (GO:0006067)	4.75981623
8	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	4.40003374
9	ethanol oxidation (GO:0006069)	4.38939654
10	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.32218261
11	epithelial cilium movement (GO:0003351)	4.31574042
12	fusion of sperm to egg plasma membrane (GO:0007342)	4.15718029
13	primary alcohol catabolic process (GO:0034310)	4.11101716
14	epithelial cell maturation (GO:0002070)	4.08577385
15	desmosome organization (GO:0002934)	4.03397609
16	sperm motility (GO:0030317)	3.97403770
17	O-glycan processing (GO:0016266)	3.90382042
18	cellular ketone body metabolic process (GO:0046950)	3.84023101
19	endothelial cell chemotaxis (GO:0035767)	3.77507069
20	branching involved in prostate gland morphogenesis (GO:0060442)	3.76515394
21	lung secretory cell differentiation (GO:0061140)	3.70044867
22	maintenance of gastrointestinal epithelium (GO:0030277)	3.68833877
23	vitamin transmembrane transport (GO:0035461)	3.68332698
24	regulation of guanylate cyclase activity (GO:0031282)	3.61854290
25	epoxygenase P450 pathway (GO:0019373)	3.58705080
26	intestinal absorption (GO:0050892)	3.49501178
27	flavonoid metabolic process (GO:0009812)	3.49380288
28	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	3.40939715
29	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.38731538
30	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	3.38402266
31	multicellular organismal water homeostasis (GO:0050891)	3.37960611
32	sulfate transmembrane transport (GO:1902358)	3.37318941
33	regulation of cell-cell adhesion mediated by cadherin (GO:2000047)	3.35802523
34	ketone body metabolic process (GO:1902224)	3.34737667
35	cellular glucuronidation (GO:0052695)	3.33402534
36	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	3.30300639
37	cellular response to pH (GO:0071467)	3.23827822
38	acrosome reaction (GO:0007340)	3.23713111
39	bile acid and bile salt transport (GO:0015721)	3.22481417
40	axoneme assembly (GO:0035082)	3.20832148
41	positive regulation of fatty acid beta-oxidation (GO:0032000)	3.18649781
42	regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	3.17907687
43	sexual reproduction (GO:0019953)	3.16827445
44	glucuronate metabolic process (GO:0019585)	3.16014516
45	uronic acid metabolic process (GO:0006063)	3.16014516
46	oligosaccharide biosynthetic process (GO:0009312)	3.12967059
47	peptidyl-tyrosine autophosphorylation (GO:0038083)	3.11400315
48	regulation of cilium movement (GO:0003352)	3.09614659
49	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.09325395
50	lung epithelial cell differentiation (GO:0060487)	3.07915430
51	glutathione biosynthetic process (GO:0006750)	3.07243837
52	water homeostasis (GO:0030104)	3.06747864
53	biotin metabolic process (GO:0006768)	3.06328838
54	diterpenoid biosynthetic process (GO:0016102)	3.02967570
55	angiotensin maturation (GO:0002003)	3.01086408
56	primary alcohol metabolic process (GO:0034308)	3.00938721
57	amino-acid betaine transport (GO:0015838)	2.96717056
58	carnitine transport (GO:0015879)	2.96717056
59	lung cell differentiation (GO:0060479)	2.95577680
60	carnitine transmembrane transport (GO:1902603)	2.94899434
61	excretion (GO:0007588)	2.93669980
62	plasma membrane fusion (GO:0045026)	2.88801711
63	phosphatidylethanolamine biosynthetic process (GO:0006646)	2.87703397
64	drug catabolic process (GO:0042737)	2.86046362
65	macroautophagy (GO:0016236)	2.85778439
66	nonribosomal peptide biosynthetic process (GO:0019184)	2.78000677
67	auditory receptor cell differentiation (GO:0042491)	2.77117993
68	regulation of fatty acid beta-oxidation (GO:0031998)	2.75715819
69	response to acidic pH (GO:0010447)	2.74034823
70	sodium ion homeostasis (GO:0055078)	2.73139448
71	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.72622654
72	positive regulation of guanylate cyclase activity (GO:0031284)	2.72551431
73	regulation of systemic arterial blood pressure by hormone (GO:0001990)	2.71972975
74	regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)	2.71972975
75	endocrine process (GO:0050886)	2.71972975
76	sphingomyelin metabolic process (GO:0006684)	2.70198085
77	positive regulation of respiratory burst (GO:0060267)	2.69340695
78	columnar/cuboidal epithelial cell development (GO:0002066)	2.68429663
79	sulfur compound transport (GO:0072348)	2.68398333
80	phenol-containing compound catabolic process (GO:0019336)	2.67545527
81	GDP-mannose metabolic process (GO:0019673)	2.67010191
82	reproduction (GO:0000003)	2.67002145
83	iron ion import (GO:0097286)	2.66516544
84	epithelial structure maintenance (GO:0010669)	2.66292437
85	renal system process involved in regulation of blood volume (GO:0001977)	2.64747402
86	multicellular organism reproduction (GO:0032504)	2.64505910
87	sulfate transport (GO:0008272)	2.64021832
88	glandular epithelial cell differentiation (GO:0002067)	2.62954939
89	regulation of water loss via skin (GO:0033561)	2.62455091
90	quaternary ammonium group transport (GO:0015697)	2.61859742
91	drug metabolic process (GO:0017144)	2.61424036
92	positive regulation of fatty acid oxidation (GO:0046321)	2.60210288
93	regulation of systemic arterial blood pressure (GO:0003073)	2.59862073
94	bile acid metabolic process (GO:0008206)	2.59802788
95	UDP-N-acetylglucosamine metabolic process (GO:0006047)	2.56358540
96	receptor recycling (GO:0001881)	2.56337079
97	phosphatidylethanolamine metabolic process (GO:0046337)	2.56182985
98	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.55740042
99	carnitine shuttle (GO:0006853)	2.55197036
100	exogenous drug catabolic process (GO:0042738)	2.54824256

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ESR2_21235772_ChIP-Seq_MCF-7_Human	3.57125013
2	CDX2_20551321_ChIP-Seq_CACO-2_Human	3.33437839
3	ESR1_20079471_ChIP-ChIP_T-47D_Human	3.25377585
4	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.90951152
5	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.90240133
6	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	2.73789023
7	DROSHA_22980978_ChIP-Seq_HELA_Human	2.63844312
8	SOX2_27498859_Chip-Seq_STOMACH_Mouse	2.54783568
9	* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.49232548
10	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.45574141
11	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.36214043
12	RUNX1_27514584_Chip-Seq_MCF-7_Human	2.27767953
13	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.23489228
14	* AR_21915096_ChIP-Seq_LNCaP-1F5_Human	2.11994260
15	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.10018210
16	* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	2.07485525
17	GATA4_25053715_ChIP-Seq_YYC3_Human	1.99617642
18	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.98969606
19	* GATA6_25053715_ChIP-Seq_YYC3_Human	1.96393883
20	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.92864647
21	* PIAS1_25552417_ChIP-Seq_VCAP_Human	1.90501058
22	AHR_22903824_ChIP-Seq_MCF-7_Human	1.90359180
23	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.87028303
24	RACK7_27058665_Chip-Seq_MCF-7_Human	1.85459152
25	KLF5_25053715_ChIP-Seq_YYC3_Human	1.83860886
26	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.73104541
27	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.69528571
28	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.65664678
29	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.63894775
30	LXR_22292898_ChIP-Seq_THP-1_Human	1.63056902
31	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.61065131
32	SOX2_20726797_ChIP-Seq_SW620_Human	1.59290386
33	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.54086910
34	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.51014731
35	TP63_17297297_ChIP-ChIP_HaCaT_Human	1.47862714
36	SMC4_20622854_ChIP-Seq_HELA_Human	1.43597193
37	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.43182224
38	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.40772879
39	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.34107867
40	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.33814072
41	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.33657036
42	CREB1_26743006_Chip-Seq_LNCaP_Human	1.32490913
43	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.31578096
44	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.31534462
45	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.30739868
46	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.27278132
47	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.26563080
48	TP63_22573176_ChIP-Seq_HFKS_Human	1.25821212
49	CTCF_27219007_Chip-Seq_Bcells_Human	1.23160297
50	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.22265978
51	STAT1_20625510_ChIP-Seq_HELA_Human	1.14947081
52	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.14837252
53	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.14011204
54	AR_21909140_ChIP-Seq_LNCAP_Human	1.10254484
55	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.08559037
56	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.08089138
57	BCOR_27268052_Chip-Seq_Bcells_Human	1.07579246
58	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.07484785
59	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.07252900
60	CEBPB_22108803_ChIP-Seq_LS180_Human	1.04624727
61	P68_20966046_ChIP-Seq_HELA_Human	1.03294859
62	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.02139900
63	E2F1_20622854_ChIP-Seq_HELA_Human	1.01985544
64	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01051674
65	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.00458168
66	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.00269917
67	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.99328616
68	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.98263302
69	ERA_21632823_ChIP-Seq_H3396_Human	0.97685509
70	RXR_22108803_ChIP-Seq_LS180_Human	0.97646065
71	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.97366138
72	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.96422562
73	* ELF5_23300383_ChIP-Seq_T47D_Human	0.94556985
74	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.93372492
75	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.92686629
76	BCL6_27268052_Chip-Seq_Bcells_Human	0.91647731
77	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	0.91464069
78	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.91242749
79	CTNNB1_20460455_ChIP-Seq_HCT116_Human	0.90721749
80	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.90557810
81	PHF8_20622854_ChIP-Seq_HELA_Human	0.90307279
82	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.90200130
83	* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.90189530
84	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.89001130
85	ESR1_15608294_ChIP-ChIP_MCF-7_Human	0.87988144
86	P300_27268052_Chip-Seq_Bcells_Human	0.86873681
87	EZH2_22144423_ChIP-Seq_EOC_Human	0.86816158
88	HNF4A_19822575_ChIP-Seq_HepG2_Human	0.85189023
89	CDX2_22108803_ChIP-Seq_LS180_Human	0.84372940
90	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.83675864
91	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	0.81551775
92	TRIM28_21343339_ChIP-Seq_HEK293_Human	0.81530402
93	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.81398208
94	TP63_23658742_ChIP-Seq_EP156T_Human	0.81125301
95	P53_21459846_ChIP-Seq_SAOS-2_Human	0.81122947
96	CTCF_20526341_ChIP-Seq_ESCs_Human	0.80943943
97	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.80211769
98	OCT4_20526341_ChIP-Seq_ESCs_Human	0.80159066
99	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.79661665
100	WDR5_24793694_ChIP-Seq_LNCAP_Human	0.78708109

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010234_abnormal_vibrissa_follicle	4.82112863
2	MP0002139_abnormal_hepatobiliary_system	4.09537006
3	MP0004043_abnormal_pH_regulation	3.73170821
4	MP0005085_abnormal_gallbladder_physiolo	3.62582088
5	MP0004264_abnormal_extraembryonic_tissu	3.28131144
6	MP0005670_abnormal_white_adipose	2.98390828
7	MP0005410_abnormal_fertilization	2.88005140
8	MP0002822_catalepsy	2.84899133
9	MP0001873_stomach_inflammation	2.80270214
10	MP0001666_abnormal_nutrient_absorption	2.78880889
11	MP0005365_abnormal_bile_salt	2.76347345
12	MP0001664_abnormal_digestion	2.64867562
13	MP0005310_abnormal_salivary_gland	2.55856487
14	MP0001765_abnormal_ion_homeostasis	2.48371218
15	MP0008004_abnormal_stomach_pH	2.29842946
16	MP0005360_urolithiasis	2.28752767
17	MP0008875_abnormal_xenobiotic_pharmacok	2.15909366
18	MP0003868_abnormal_feces_composition	2.02474563
19	MP0005083_abnormal_biliary_tract	2.02072134
20	MP0004782_abnormal_surfactant_physiolog	2.01676580
21	MP0000537_abnormal_urethra_morphology	1.98150567
22	MP0003183_abnormal_peptide_metabolism	1.97091643
23	MP0000566_synostosis	1.96896460
24	MP0000678_abnormal_parathyroid_gland	1.96701917
25	MP0003866_abnormal_defecation	1.94134967
26	MP0002796_impaired_skin_barrier	1.93305873
27	MP0002009_preneoplasia	1.84477336
28	MP0002166_altered_tumor_susceptibility	1.83707331
29	MP0009780_abnormal_chondrocyte_physiolo	1.78714922
30	MP0004019_abnormal_vitamin_homeostasis	1.74704807
31	MP0002098_abnormal_vibrissa_morphology	1.74641513
32	MP0002277_abnormal_respiratory_mucosa	1.68374922
33	MP0010155_abnormal_intestine_physiology	1.64298077
34	MP0005636_abnormal_mineral_homeostasis	1.63975017
35	MP0000538_abnormal_urinary_bladder	1.54575976
36	MP0000477_abnormal_intestine_morphology	1.53325574
37	MP0002876_abnormal_thyroid_physiology	1.52072471
38	MP0000470_abnormal_stomach_morphology	1.50284154
39	MP0010678_abnormal_skin_adnexa	1.46767610
40	MP0003879_abnormal_hair_cell	1.44881826
41	MP0005451_abnormal_body_composition	1.36053946
42	MP0002132_abnormal_respiratory_system	1.31914767
43	MP0000462_abnormal_digestive_system	1.28816861
44	MP0005377_hearing/vestibular/ear_phenot	1.28487298
45	MP0003878_abnormal_ear_physiology	1.28487298
46	MP0002138_abnormal_hepatobiliary_system	1.28166778
47	MP0010352_gastrointestinal_tract_polyps	1.26738287
48	MP0002909_abnormal_adrenal_gland	1.25845220
49	MP0001663_abnormal_digestive_system	1.24832219
50	MP0001485_abnormal_pinna_reflex	1.23913176
51	MP0008961_abnormal_basal_metabolism	1.23237844
52	MP0005409_darkened_coat_color	1.21926207
53	MP0002653_abnormal_ependyma_morphology	1.20843002
54	MP0009379_abnormal_foot_pigmentation	1.20654568
55	MP0009643_abnormal_urine_homeostasis	1.18499985
56	MP0004858_abnormal_nervous_system	1.17436038
57	MP0005381_digestive/alimentary_phenotyp	1.16918411
58	MP0002006_tumorigenesis	1.16643812
59	MP0003283_abnormal_digestive_organ	1.13030148
60	MP0001501_abnormal_sleep_pattern	1.12379572
61	MP0005666_abnormal_adipose_tissue	1.10838016
62	MP0010386_abnormal_urinary_bladder	1.10585258
63	MP0002249_abnormal_larynx_morphology	1.07707004
64	MP0003698_abnormal_male_reproductive	1.06859290
65	MP0000490_abnormal_crypts_of	1.01651345
66	MP0000383_abnormal_hair_follicle	0.99452605
67	MP0010329_abnormal_lipoprotein_level	0.97577569
68	MP0000467_abnormal_esophagus_morphology	0.95708553
69	MP0003252_abnormal_bile_duct	0.95582917
70	MP0001756_abnormal_urination	0.94463808
71	MP0008872_abnormal_physiological_respon	0.93858869
72	MP0002118_abnormal_lipid_homeostasis	0.92975045
73	MP0002136_abnormal_kidney_physiology	0.89402156
74	MP0003315_abnormal_perineum_morphology	0.89221929
75	MP0001346_abnormal_lacrimal_gland	0.87132336
76	MP0005647_abnormal_sex_gland	0.87049464
77	MP0000627_abnormal_mammary_gland	0.85961721
78	MP0005645_abnormal_hypothalamus_physiol	0.85082432
79	MP0002735_abnormal_chemical_nociception	0.84017186
80	MP0005501_abnormal_skin_physiology	0.82252040
81	MP0002168_other_aberrant_phenotype	0.82219093
82	MP0001764_abnormal_homeostasis	0.81507250
83	MP0000613_abnormal_salivary_gland	0.80743427
84	MP0003045_fibrosis	0.79559198
85	MP0003953_abnormal_hormone_level	0.79423469
86	MP0002896_abnormal_bone_mineralization	0.77317728
87	MP0005408_hypopigmentation	0.76698941
88	MP0005220_abnormal_exocrine_pancreas	0.73257390
89	MP0000534_abnormal_ureter_morphology	0.73171499
90	MP0001929_abnormal_gametogenesis	0.71796278
91	MP0000609_abnormal_liver_physiology	0.71641594
92	MP0005166_decreased_susceptibility_to	0.70982405
93	MP0005395_other_phenotype	0.67647367
94	MP0000230_abnormal_systemic_arterial	0.66830867
95	MP0001881_abnormal_mammary_gland	0.65753652
96	MP0000026_abnormal_inner_ear	0.64929928
97	MP0001348_abnormal_lacrimal_gland	0.63592321
98	MP0001216_abnormal_epidermal_layer	0.62292043
99	MP0000681_abnormal_thyroid_gland	0.62169145
100	MP0002089_abnormal_postnatal_growth/wei	0.61574322

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hyperactive renin-angiotensin system (HP:0000841)	6.71414882
2	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.55298071
3	Absent/shortened dynein arms (HP:0200106)	6.04254944
4	Dynein arm defect of respiratory motile cilia (HP:0012255)	6.04254944
5	Abnormal respiratory motile cilium physiology (HP:0012261)	5.84070708
6	Abnormal respiratory epithelium morphology (HP:0012253)	5.72562157
7	Abnormal respiratory motile cilium morphology (HP:0005938)	5.72562157
8	Abnormal ciliary motility (HP:0012262)	5.70969429
9	Chronic bronchitis (HP:0004469)	5.58300304
10	Rhinitis (HP:0012384)	5.15908219
11	Decreased circulating renin level (HP:0003351)	5.08507969
12	Flat acetabular roof (HP:0003180)	4.98782796
13	Hyperkalemia (HP:0002153)	4.49154309
14	Abnormality of chloride homeostasis (HP:0011422)	4.44656512
15	Abnormality of renin-angiotensin system (HP:0000847)	4.32810714
16	Bronchiectasis (HP:0002110)	4.17626655
17	Nasal polyposis (HP:0100582)	3.82779873
18	Hyperaldosteronism (HP:0000859)	3.56188359
19	Intrahepatic cholestasis (HP:0001406)	3.47505754
20	Abnormality of the nasal mucosa (HP:0000433)	3.42767336
21	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.37899243
22	Infertility (HP:0000789)	3.27245009
23	Metabolic alkalosis (HP:0200114)	3.18088395
24	Bronchitis (HP:0012387)	2.98874211
25	Male infertility (HP:0003251)	2.97737284
26	Cone-rod dystrophy (HP:0000548)	2.96569921
27	Hyponatremia (HP:0002902)	2.96516046
28	Tubulointerstitial nephritis (HP:0001970)	2.96190086
29	Abnormal tarsal ossification (HP:0008369)	2.93780996
30	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.90479320
31	Right ventricular cardiomyopathy (HP:0011663)	2.89139596
32	Amelogenesis imperfecta (HP:0000705)	2.87744641
33	Abnormality of the distal phalanx of the thumb (HP:0009617)	2.87118289
34	Abnormality of potassium homeostasis (HP:0011042)	2.84065038
35	Alkalosis (HP:0001948)	2.82461336
36	Flattened epiphyses (HP:0003071)	2.82160344
37	Malnutrition (HP:0004395)	2.54155363
38	Abdominal distention (HP:0003270)	2.53440247
39	Congenital sensorineural hearing impairment (HP:0008527)	2.48810419
40	Fat malabsorption (HP:0002630)	2.48162801
41	Renal salt wasting (HP:0000127)	2.45360420
42	Azoospermia (HP:0000027)	2.43095386
43	Bell-shaped thorax (HP:0001591)	2.42196963
44	Abnormality of carpal bone ossification (HP:0006257)	2.40636568
45	Abnormality of the 1st metacarpal (HP:0010009)	2.36107960
46	Lip pit (HP:0100267)	2.29475099
47	Hypokalemia (HP:0002900)	2.27687400
48	Pili torti (HP:0003777)	2.26793288
49	Recurrent otitis media (HP:0000403)	2.24808542
50	Chronic sinusitis (HP:0011109)	2.23804752
51	Genetic anticipation (HP:0003743)	2.23672372
52	Abnormal hand bone ossification (HP:0010660)	2.23617016
53	Abnormality of sodium homeostasis (HP:0010931)	2.22600437
54	Widely patent fontanelles and sutures (HP:0004492)	2.22375981
55	Ileus (HP:0002595)	2.21016051
56	Short phalanx of the thumb (HP:0009660)	2.18738450
57	Hemorrhage of the eye (HP:0011885)	2.16701913
58	Conjugated hyperbilirubinemia (HP:0002908)	2.15977007
59	Chronic hepatic failure (HP:0100626)	2.13782677
60	Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)	2.02789025
61	Abnormal ossification of hand bones (HP:0005921)	2.01032760
62	Hypotension (HP:0002615)	1.98636379
63	Atelectasis (HP:0100750)	1.97659651
64	Abnormality of the distal phalanges of the toes (HP:0010182)	1.96761231
65	Progressive sensorineural hearing impairment (HP:0000408)	1.96680851
66	Thin bony cortex (HP:0002753)	1.95489806
67	Abnormality of the phalanges of the hallux (HP:0010057)	1.94162033
68	Bony spicule pigmentary retinopathy (HP:0007737)	1.93410970
69	Severe visual impairment (HP:0001141)	1.91293688
70	Renal tubular acidosis (HP:0001947)	1.91115482
71	Abnormality of proline metabolism (HP:0010907)	1.89103575
72	Hydroxyprolinuria (HP:0003080)	1.89103575
73	Enlarged epiphyses (HP:0010580)	1.89001910
74	Syncope (HP:0001279)	1.87681283
75	Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)	1.86580227
76	Sparse lateral eyebrow (HP:0005338)	1.84124117
77	Adrenal overactivity (HP:0002717)	1.83743002
78	Dehydration (HP:0001944)	1.82034946
79	Curly hair (HP:0002212)	1.81327299
80	Spinal cord compression (HP:0002176)	1.80499462
81	Recurrent sinusitis (HP:0011108)	1.79796861
82	Short 1st metacarpal (HP:0010034)	1.76512495
83	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.76512495
84	Severe short stature (HP:0003510)	1.74575788
85	Aplasia/hypoplasia of the femur (HP:0005613)	1.74535585
86	Abnormal foot bone ossification (HP:0010675)	1.74062041
87	Bronchomalacia (HP:0002780)	1.73125978
88	Pigmentary retinal degeneration (HP:0001146)	1.71469467
89	Bifid scrotum (HP:0000048)	1.71071771
90	Septate vagina (HP:0001153)	1.71036590
91	Protuberant abdomen (HP:0001538)	1.70760765
92	Abnormality of macular pigmentation (HP:0008002)	1.69941104
93	Abnormal vertebral ossification (HP:0100569)	1.69301252
94	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.66922009
95	Germ cell neoplasia (HP:0100728)	1.66454534
96	Abnormal hair laboratory examination (HP:0003328)	1.60727732
97	Ventricular fibrillation (HP:0001663)	1.59525167
98	Broad face (HP:0000283)	1.59280224
99	Flat capital femoral epiphysis (HP:0003370)	1.58038954
100	Hyperparathyroidism (HP:0000843)	1.57847887

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA2	5.83930880
2	MST1R	4.57031006
3	TRIB3	3.86960305
4	LMTK2	3.58809483
5	CAMK1D	3.44381916
6	TESK1	3.32877077
7	MAPK15	3.10027241
8	CAMK1G	2.94918272
9	TAOK1	2.78454844
10	ACVR1B	2.64538251
11	RIPK1	2.60525604
12	STK39	2.31686025
13	CDK12	2.13495006
14	PIK3CA	2.01703622
15	FER	1.97052297
16	ERN1	1.92362540
17	DDR2	1.88504939
18	TNK2	1.66513761
19	AKT3	1.62975200
20	PKN2	1.57851260
21	MET	1.54117428
22	STK38	1.53997870
23	EEF2K	1.52284348
24	MAPKAPK3	1.49546548
25	PRKG2	1.35534895
26	ICK	1.19131619
27	SIK1	1.18821587
28	MARK2	1.17176828
29	PRKD3	1.16784115
30	WNK4	1.15734111
31	PRKCI	1.14545836
32	MST4	1.09349104
33	STK38L	1.09287730
34	MAP3K2	1.09106466
35	SMG1	1.07948320
36	FRK	1.07261121
37	PRKAA2	1.04462062
38	TESK2	1.01775359
39	PDPK1	1.01596603
40	NEK6	0.99955370
41	OXSR1	0.98004647
42	ERBB2	0.92470262
43	PTK6	0.91473741
44	PNCK	0.88358645
45	INSRR	0.84155748
46	RIPK4	0.80798149
47	IRAK3	0.80659717
48	PRKD2	0.79111648
49	MAP3K3	0.74166793
50	RPS6KA2	0.72693984
51	MUSK	0.71631240
52	MTOR	0.70376152
53	FGFR4	0.68671086
54	MATK	0.67091133
55	MAP2K2	0.66004349
56	PIM2	0.65353403
57	CHUK	0.64400860
58	CDC42BPA	0.62936323
59	PDK1	0.62731517
60	MYLK	0.61410192
61	CDK7	0.56785227
62	PRKAA1	0.53300094
63	DYRK1B	0.48213726
64	EPHB2	0.47899829
65	LRRK2	0.47602747
66	MAP2K6	0.43244976
67	LATS1	0.40988509
68	PRKCZ	0.40864873
69	EPHA3	0.40638672
70	EPHB1	0.38401960
71	MAP3K12	0.37342210
72	RPS6KB2	0.36806855
73	SGK223	0.36242529
74	SGK494	0.36242529
75	CAMKK1	0.34171993
76	RPS6KA6	0.33655974
77	MAP3K1	0.31158186
78	WNK1	0.31117407
79	BCR	0.30094994
80	RPS6KC1	0.30003998
81	RPS6KL1	0.30003998
82	MAP2K1	0.28224242
83	IRAK1	0.27688833
84	ILK	0.26725457
85	CSNK1A1	0.25170355
86	PTK2	0.25149288
87	PRKCA	0.25056552
88	DMPK	0.24677937
89	PRKCE	0.24025003
90	FGFR3	0.22482410
91	RET	0.22280715
92	NME1	0.22096584
93	SGK1	0.21253875
94	GRK1	0.20708050
95	PAK4	0.19534608
96	BRD4	0.18931152
97	PRKD1	0.18026226
98	MAPK8	0.17994487
99	MAPKAPK2	0.17262945
100	GSK3B	0.17143903

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid biosynthesis_Homo sapiens_hsa00061	3.46449092
2	Cyanoamino acid metabolism_Homo sapiens_hsa00460	3.30373150
3	Histidine metabolism_Homo sapiens_hsa00340	2.86977246
4	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.52656681
5	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.47129222
6	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.46931478
7	Phenylalanine metabolism_Homo sapiens_hsa00360	2.45423729
8	Chemical carcinogenesis_Homo sapiens_hsa05204	2.28530927
9	Sulfur metabolism_Homo sapiens_hsa00920	2.26025874
10	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.15488865
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.13116459
12	Retinol metabolism_Homo sapiens_hsa00830	2.10137857
13	Caffeine metabolism_Homo sapiens_hsa00232	2.01774328
14	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.96799088
15	Nitrogen metabolism_Homo sapiens_hsa00910	1.95422265
16	Fatty acid degradation_Homo sapiens_hsa00071	1.94088941
17	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.93709042
18	Renin-angiotensin system_Homo sapiens_hsa04614	1.91087237
19	Mineral absorption_Homo sapiens_hsa04978	1.85620693
20	Fat digestion and absorption_Homo sapiens_hsa04975	1.79017349
21	Arginine biosynthesis_Homo sapiens_hsa00220	1.77826101
22	Bile secretion_Homo sapiens_hsa04976	1.77605040
23	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.67531471
24	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.65309672
25	Tyrosine metabolism_Homo sapiens_hsa00350	1.64306506
26	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.61764657
27	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.58268791
28	PPAR signaling pathway_Homo sapiens_hsa03320	1.49940264
29	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.49523203
30	Linoleic acid metabolism_Homo sapiens_hsa00591	1.45986577
31	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.40124731
32	Arginine and proline metabolism_Homo sapiens_hsa00330	1.38042967
33	Fatty acid metabolism_Homo sapiens_hsa01212	1.36180719
34	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.35631642
35	Tight junction_Homo sapiens_hsa04530	1.33463276
36	Pancreatic secretion_Homo sapiens_hsa04972	1.25726654
37	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.25533261
38	Tryptophan metabolism_Homo sapiens_hsa00380	1.23863194
39	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.18323676
40	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.13107211
41	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.11206711
42	beta-Alanine metabolism_Homo sapiens_hsa00410	1.09282539
43	ABC transporters_Homo sapiens_hsa02010	1.09189304
44	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.07986155
45	Glutathione metabolism_Homo sapiens_hsa00480	1.07747448
46	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.06564742
47	Butanoate metabolism_Homo sapiens_hsa00650	1.03549690
48	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.95619649
49	Sphingolipid metabolism_Homo sapiens_hsa00600	0.95102755
50	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.89441713
51	Peroxisome_Homo sapiens_hsa04146	0.88382656
52	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.85750731
53	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.81681336
54	Insulin resistance_Homo sapiens_hsa04931	0.74819178
55	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.74287553
56	Sulfur relay system_Homo sapiens_hsa04122	0.73396289
57	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.72134960
58	Taste transduction_Homo sapiens_hsa04742	0.68553230
59	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.67955688
60	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.64297006
61	Protein digestion and absorption_Homo sapiens_hsa04974	0.62208671
62	Glycerolipid metabolism_Homo sapiens_hsa00561	0.61286150
63	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.57895846
64	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.56532702
65	Hepatitis C_Homo sapiens_hsa05160	0.55510159
66	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.55358115
67	Propanoate metabolism_Homo sapiens_hsa00640	0.55044699
68	Gastric acid secretion_Homo sapiens_hsa04971	0.53428821
69	Salivary secretion_Homo sapiens_hsa04970	0.51226650
70	Cocaine addiction_Homo sapiens_hsa05030	0.50901144
71	Notch signaling pathway_Homo sapiens_hsa04330	0.50315191
72	Estrogen signaling pathway_Homo sapiens_hsa04915	0.47919097
73	AMPK signaling pathway_Homo sapiens_hsa04152	0.44543367
74	Insulin secretion_Homo sapiens_hsa04911	0.42382188
75	Renin secretion_Homo sapiens_hsa04924	0.41496766
76	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.40501438
77	Prostate cancer_Homo sapiens_hsa05215	0.38871281
78	Vibrio cholerae infection_Homo sapiens_hsa05110	0.38685761
79	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.38188138
80	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.38156312
81	Choline metabolism in cancer_Homo sapiens_hsa05231	0.38057189
82	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.36842086
83	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.33684205
84	Lysine degradation_Homo sapiens_hsa00310	0.33559628
85	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.33005936
86	Adherens junction_Homo sapiens_hsa04520	0.32259422
87	Serotonergic synapse_Homo sapiens_hsa04726	0.31914839
88	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.31168629
89	Type II diabetes mellitus_Homo sapiens_hsa04930	0.31078960
90	Pyruvate metabolism_Homo sapiens_hsa00620	0.29958431
91	Glucagon signaling pathway_Homo sapiens_hsa04922	0.26244643
92	Ether lipid metabolism_Homo sapiens_hsa00565	0.24912131
93	Metabolic pathways_Homo sapiens_hsa01100	0.24108720
94	Complement and coagulation cascades_Homo sapiens_hsa04610	0.23881309
95	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.20983617
96	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.20972022
97	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.20796251
98	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.17051741
99	Other glycan degradation_Homo sapiens_hsa00511	0.16909721
100	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.15337002

C9ORF152

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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