ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of activin receptor signaling pathway (GO:0032926)	9.79237308
2	histone-serine phosphorylation (GO:0035404)	9.20372247
3	mitochondrion distribution (GO:0048311)	8.91541068
4	regulation of transforming growth factor beta2 production (GO:0032909)	8.08377545
5	regulation of nuclear cell cycle DNA replication (GO:0033262)	7.87367086
6	regulation of protein localization to cell surface (GO:2000008)	6.94409545
7	negative regulation of keratinocyte proliferation (GO:0010839)	6.93480355
8	regulation of chemokine-mediated signaling pathway (GO:0070099)	6.75129260
9	citrulline metabolic process (GO:0000052)	6.56514105
10	positive regulation of DNA-dependent DNA replication (GO:2000105)	6.26552993
11	regulation of cardioblast differentiation (GO:0051890)	6.21843649
12	lipid particle organization (GO:0034389)	5.74004758
13	protein prenylation (GO:0018342)	5.68139830
14	prenylation (GO:0097354)	5.68139830
15	response to pheromone (GO:0019236)	5.44093376
16	mitochondrion localization (GO:0051646)	5.29159260
17	arginine catabolic process (GO:0006527)	5.26564534
18	centriole replication (GO:0007099)	5.05089428
19	generation of neurons (GO:0048699)	5.04708383
20	positive regulation of receptor internalization (GO:0002092)	4.97865806
21	embryonic digestive tract development (GO:0048566)	4.94849570
22	positive regulation of cell cycle G2/M phase transition (GO:1902751)	4.83811503
23	positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)	4.83811503
24	keratinocyte development (GO:0003334)	4.62760865
25	positive regulation of hair follicle development (GO:0051798)	4.58200153
26	positive regulation of hair cycle (GO:0042635)	4.58200153
27	negative regulation of sodium ion transport (GO:0010766)	4.57393556
28	negative regulation of protein localization to cell surface (GO:2000009)	4.56498706
29	rRNA methylation (GO:0031167)	4.55217056
30	regulation of spindle organization (GO:0090224)	4.54278010
31	positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110	4.49417427
32	mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)	4.49417427
33	histone phosphorylation (GO:0016572)	4.46782554
34	outer ear morphogenesis (GO:0042473)	4.44252620
35	peptidyl-arginine modification (GO:0018195)	4.40884055
36	negative regulation of leukocyte chemotaxis (GO:0002689)	4.36249925
37	mitochondrion transport along microtubule (GO:0047497)	4.33502397
38	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	4.33502397
39	regulation of activin receptor signaling pathway (GO:0032925)	4.32320087
40	regulation of nitric-oxide synthase biosynthetic process (GO:0051769)	4.21249026
41	regulation of alkaline phosphatase activity (GO:0010692)	4.20691398
42	rRNA modification (GO:0000154)	4.11998464
43	citrulline biosynthetic process (GO:0019240)	4.08764317
44	valine metabolic process (GO:0006573)	4.07326738
45	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	4.03592858
46	opsonization (GO:0008228)	3.98665558
47	dopamine biosynthetic process (GO:0042416)	3.94494223
48	establishment of mitochondrion localization (GO:0051654)	3.85913610
49	pathway-restricted SMAD protein phosphorylation (GO:0060389)	3.82481021
50	regulation of cholesterol esterification (GO:0010872)	3.76270287
51	centriole assembly (GO:0098534)	3.72750276
52	gene silencing by RNA (GO:0031047)	3.71031385
53	mRNA splice site selection (GO:0006376)	3.66858059
54	ventricular trabecula myocardium morphogenesis (GO:0003222)	3.65213002
55	acrosome assembly (GO:0001675)	3.58263242
56	regulation of keratinocyte proliferation (GO:0010837)	3.54643419
57	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	3.53934578
58	regulation of receptor internalization (GO:0002090)	3.52530621
59	phospholipid homeostasis (GO:0055091)	3.49591362
60	intestinal cholesterol absorption (GO:0030299)	3.48872410
61	negative regulation of microtubule depolymerization (GO:0007026)	3.45851524
62	cardiac right ventricle morphogenesis (GO:0003215)	3.44931135
63	lymph vessel development (GO:0001945)	3.40817009
64	regulation of spindle checkpoint (GO:0090231)	3.40487861
65	positive regulation of multicellular organism growth (GO:0040018)	3.39764901
66	regulation of transforming growth factor beta production (GO:0071634)	3.37577652
67	peptidyl-arginine omega-N-methylation (GO:0035247)	3.35051917
68	response to lead ion (GO:0010288)	3.33072184
69	negative regulation of cytokine production involved in immune response (GO:0002719)	3.32462396
70	regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	3.31125026
71	protein localization to microtubule cytoskeleton (GO:0072698)	3.30393869
72	stress granule assembly (GO:0034063)	3.30159603
73	embryonic retina morphogenesis in camera-type eye (GO:0060059)	3.28630826
74	positive regulation of receptor-mediated endocytosis (GO:0048260)	3.27825248
75	regulation of cell maturation (GO:1903429)	3.25441227
76	regulation of hair follicle development (GO:0051797)	3.24997549
77	transcription from mitochondrial promoter (GO:0006390)	3.24435601
78	plasma lipoprotein particle assembly (GO:0034377)	3.23852047
79	phospholipid efflux (GO:0033700)	3.19836258
80	negative regulation of production of molecular mediator of immune response (GO:0002701)	3.19822419
81	histone H4-K16 acetylation (GO:0043984)	3.19353237
82	high-density lipoprotein particle remodeling (GO:0034375)	3.18224866
83	thyroid hormone metabolic process (GO:0042403)	3.16920233
84	sex differentiation (GO:0007548)	3.16226039
85	centrosome localization (GO:0051642)	3.15861666
86	cellular response to ATP (GO:0071318)	3.15308215
87	regulation of microtubule depolymerization (GO:0031114)	3.14419392
88	intraciliary transport (GO:0042073)	3.12574584
89	centrosome duplication (GO:0051298)	3.10113698
90	arginine metabolic process (GO:0006525)	3.09941933
91	establishment or maintenance of monopolar cell polarity (GO:0061339)	3.09621618
92	establishment of monopolar cell polarity (GO:0061162)	3.09621618
93	monoubiquitinated protein deubiquitination (GO:0035520)	3.08772836
94	peptidyl-arginine N-methylation (GO:0035246)	3.07493233
95	peptidyl-arginine methylation (GO:0018216)	3.07493233
96	aggressive behavior (GO:0002118)	3.04307272
97	reverse cholesterol transport (GO:0043691)	3.04241663
98	positive regulation of T cell apoptotic process (GO:0070234)	3.03373715
99	positive regulation of heart contraction (GO:0045823)	3.03298126
100	signal peptide processing (GO:0006465)	10.9367650

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	5.85748121
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.28604049
3	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	3.58082146
4	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.88810772
5	GATA1_22025678_ChIP-Seq_K562_Human	2.68394435
6	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.49652421
7	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.37807468
8	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.36942096
9	P300_19829295_ChIP-Seq_ESCs_Human	2.23804876
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.16634184
11	BCAT_22108803_ChIP-Seq_LS180_Human	2.05550820
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.02176276
13	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.01901259
14	P53_22127205_ChIP-Seq_FIBROBLAST_Human	2.00499245
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.91157174
16	CDX2_22108803_ChIP-Seq_LS180_Human	1.89469072
17	AR_21909140_ChIP-Seq_LNCAP_Human	1.88272207
18	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.87600118
19	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.83452461
20	P300_18555785_Chip-Seq_ESCs_Mouse	1.79026838
21	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.78063883
22	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.75182691
23	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.72361838
24	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.71624120
25	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.66437768
26	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.64216873
27	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.63446680
28	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.59806101
29	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.57458849
30	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.57315770
31	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.55759972
32	EWS_26573619_Chip-Seq_HEK293_Human	1.55525254
33	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.54386453
34	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.54190508
35	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.53629055
36	ESRRB_18555785_Chip-Seq_ESCs_Mouse	1.53620079
37	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.53165577
38	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.52429323
39	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.52423902
40	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.51869951
41	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.49113377
42	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.47501663
43	SMAD1_18555785_Chip-Seq_ESCs_Mouse	1.47291557
44	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.46264886
45	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.45415697
46	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.45357657
47	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.44626990
48	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.44029639
49	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.42950002
50	AR_21572438_ChIP-Seq_LNCaP_Human	1.40308149
51	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	1.38809114
52	MYC_18940864_ChIP-ChIP_HL60_Human	1.38509542
53	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.36460506
54	P53_22387025_ChIP-Seq_ESCs_Mouse	1.35427865
55	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.34943005
56	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.32807823
57	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	1.32799003
58	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32147264
59	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.31808515
60	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.31150069
61	STAT3_23295773_ChIP-Seq_U87_Human	1.29823634
62	KLF4_18555785_Chip-Seq_ESCs_Mouse	1.26415552
63	TAF15_26573619_Chip-Seq_HEK293_Human	1.24511647
64	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.23551740
65	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.23097854
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.21998316
67	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.21837152
68	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.20103107
69	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.17203056
70	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.17053260
71	ZNF263_19887448_ChIP-Seq_K562_Human	1.16629739
72	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.15227521
73	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.14531649
74	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.14304706
75	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.14304706
76	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.13657809
77	PU1_27457419_Chip-Seq_LIVER_Mouse	1.12084880
78	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.11966332
79	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.10624733
80	TBL1_22424771_ChIP-Seq_293T_Human	1.08534734
81	ER_23166858_ChIP-Seq_MCF-7_Human	1.06722724
82	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.06162388
83	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.05963010
84	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.03863734
85	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03511264
86	NCOR_22424771_ChIP-Seq_293T_Human	1.03216550
87	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.02229635
88	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.01738635
89	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.01247643
90	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.00998697
91	TP53_16413492_ChIP-PET_HCT116_Human	0.99565250
92	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.99266577
93	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.97782132
94	CBX2_27304074_Chip-Seq_ESCs_Mouse	0.97379583
95	NR3C1_23031785_ChIP-Seq_PC12_Mouse	0.95931447
96	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.95699770
97	SMAD4_21799915_ChIP-Seq_A2780_Human	0.95245801
98	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.94251226
99	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.93779214
100	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.93504654

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002876_abnormal_thyroid_physiology	4.79062938
2	MP0000537_abnormal_urethra_morphology	4.46662814
3	MP0009053_abnormal_anal_canal	4.03834984
4	MP0000516_abnormal_urinary_system	3.86554751
5	MP0005367_renal/urinary_system_phenotyp	3.86554751
6	MP0003315_abnormal_perineum_morphology	3.57444636
7	MP0010368_abnormal_lymphatic_system	3.54820653
8	MP0002163_abnormal_gland_morphology	3.54738155
9	MP0005647_abnormal_sex_gland	2.83722669
10	MP0005085_abnormal_gallbladder_physiolo	2.73674291
11	MP0003693_abnormal_embryo_hatching	2.37348905
12	MP0004264_abnormal_extraembryonic_tissu	2.13828090
13	MP0005379_endocrine/exocrine_gland_phen	2.08027610
14	MP0008057_abnormal_DNA_replication	10.4011873
15	MP0003195_calcinosis	1.92776699
16	MP0004885_abnormal_endolymph	1.77574626
17	MP0001346_abnormal_lacrimal_gland	1.73724234
18	MP0003705_abnormal_hypodermis_morpholog	1.72874601
19	MP0005266_abnormal_metabolism	1.72080324
20	MP0005423_abnormal_somatic_nervous	1.65746378
21	MP0005187_abnormal_penis_morphology	1.61677489
22	MP0009840_abnormal_foam_cell	1.54388835
23	MP0006276_abnormal_autonomic_nervous	1.53993549
24	MP0000534_abnormal_ureter_morphology	1.53344116
25	MP0000639_abnormal_adrenal_gland	1.42564412
26	MP0003183_abnormal_peptide_metabolism	1.41071791
27	MP0002736_abnormal_nociception_after	1.39257808
28	MP0010030_abnormal_orbit_morphology	1.34285455
29	MP0001666_abnormal_nutrient_absorption	1.34126140
30	MP0001879_abnormal_lymphatic_vessel	1.32110534
31	MP0001348_abnormal_lacrimal_gland	1.32031047
32	MP0009384_cardiac_valve_regurgitation	1.30963954
33	MP0008877_abnormal_DNA_methylation	1.30942167
34	MP0003077_abnormal_cell_cycle	1.25610197
35	MP0002127_abnormal_cardiovascular_syste	1.23776376
36	MP0003252_abnormal_bile_duct	1.21345328
37	MP0005451_abnormal_body_composition	1.19066871
38	MP0001756_abnormal_urination	1.12763884
39	MP0003943_abnormal_hepatobiliary_system	1.08320300
40	MP0003191_abnormal_cellular_cholesterol	1.07286484
41	MP0008995_early_reproductive_senescence	1.03589031
42	MP0004957_abnormal_blastocyst_morpholog	1.03307578
43	MP0002277_abnormal_respiratory_mucosa	1.02574843
44	MP0004270_analgesia	0.93637672
45	MP0005197_abnormal_uvea_morphology	0.92688162
46	MP0003718_maternal_effect	0.91455037
47	MP0001177_atelectasis	0.90284248
48	MP0003119_abnormal_digestive_system	0.89818685
49	MP0000613_abnormal_salivary_gland	0.89370643
50	MP0001968_abnormal_touch/_nociception	0.87151276
51	MP0009703_decreased_birth_body	0.86952012
52	MP0008961_abnormal_basal_metabolism	0.84504103
53	MP0005376_homeostasis/metabolism_phenot	0.82901945
54	MP0000647_abnormal_sebaceous_gland	0.82351420
55	MP0001119_abnormal_female_reproductive	0.81241906
56	MP0003942_abnormal_urinary_system	0.80093914
57	MP0009672_abnormal_birth_weight	0.78806475
58	MP0010386_abnormal_urinary_bladder	0.74392590
59	MP0001286_abnormal_eye_development	0.73781199
60	MP0003656_abnormal_erythrocyte_physiolo	0.73632438
61	MP0008004_abnormal_stomach_pH	0.73267138
62	MP0006292_abnormal_olfactory_placode	0.70161180
63	MP0005395_other_phenotype	0.67915023
64	MP0010329_abnormal_lipoprotein_level	0.65441310
65	MP0004197_abnormal_fetal_growth/weight/	0.64840184
66	MP0002138_abnormal_hepatobiliary_system	0.63022484
67	MP0005365_abnormal_bile_salt	0.58903090
68	MP0001929_abnormal_gametogenesis	0.58267510
69	MP0005084_abnormal_gallbladder_morpholo	0.57493530
70	MP0005410_abnormal_fertilization	0.56829905
71	MP0001486_abnormal_startle_reflex	0.56726710
72	MP0005409_darkened_coat_color	0.56117537
73	MP0006082_CNS_inflammation	0.56056614
74	MP0004883_abnormal_blood_vessel	0.54695435
75	MP0005595_abnormal_vascular_smooth	0.54307061
76	MP0004043_abnormal_pH_regulation	0.51855255
77	MP0003111_abnormal_nucleus_morphology	0.51689123
78	MP0001765_abnormal_ion_homeostasis	0.51425599
79	MP0003935_abnormal_craniofacial_develop	0.51406707
80	MP0002168_other_aberrant_phenotype	0.50549410
81	MP0005397_hematopoietic_system_phenotyp	0.50541148
82	MP0001545_abnormal_hematopoietic_system	0.50541148
83	MP0002139_abnormal_hepatobiliary_system	0.48852553
84	MP0002282_abnormal_trachea_morphology	0.48373266
85	MP0001664_abnormal_digestion	0.46397715
86	MP0000427_abnormal_hair_cycle	0.46342282
87	MP0005332_abnormal_amino_acid	0.45821353
88	MP0003690_abnormal_glial_cell	0.43951290
89	MP0009250_abnormal_appendicular_skeleto	0.42564591
90	MP0010094_abnormal_chromosome_stability	0.42515473
91	MP0002233_abnormal_nose_morphology	0.41528181
92	MP0004272_abnormal_basement_membrane	0.41265180
93	MP0002751_abnormal_autonomic_nervous	0.41215301
94	MP0000377_abnormal_hair_follicle	0.40523869
95	MP0000015_abnormal_ear_pigmentation	0.40230601
96	MP0001873_stomach_inflammation	0.40044159
97	MP0003755_abnormal_palate_morphology	0.39721205
98	MP0005360_urolithiasis	0.38603601
99	MP0001697_abnormal_embryo_size	0.38382720
100	MP0002132_abnormal_respiratory_system	0.38077714

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Conjunctival telangiectasia (HP:0000524)	8.84466195
2	Abnormality of the vasculature of the conjunctiva (HP:0008054)	7.54091507
3	Impaired proprioception (HP:0010831)	6.83672387
4	Atrophy/Degeneration involving motor neurons (HP:0007373)	6.10298988
5	Gaze-evoked nystagmus (HP:0000640)	5.00280240
6	Arterial tortuosity (HP:0005116)	3.65847461
7	Mucosal telangiectasiae (HP:0100579)	3.59356472
8	Clonus (HP:0002169)	3.47720013
9	Hypergammaglobulinemia (HP:0010702)	3.44301163
10	Impaired vibratory sensation (HP:0002495)	3.40225435
11	Abnormal neuron morphology (HP:0012757)	3.25963063
12	Abnormality of the motor neurons (HP:0002450)	3.25963063
13	Abnormality of ocular smooth pursuit (HP:0000617)	3.17283372
14	Vascular tortuosity (HP:0004948)	3.14204794
15	Urethral obstruction (HP:0000796)	3.06768906
16	Hypoalphalipoproteinemia (HP:0003233)	2.91578255
17	Rectal fistula (HP:0100590)	2.84133467
18	Rectovaginal fistula (HP:0000143)	2.84133467
19	Intestinal atresia (HP:0011100)	2.83273756
20	Spondylolisthesis (HP:0003302)	2.76406530
21	Partial duplication of the phalanx of hand (HP:0009999)	2.71258479
22	Curly hair (HP:0002212)	2.65924510
23	Decreased motor nerve conduction velocity (HP:0003431)	2.60802768
24	Difficulty walking (HP:0002355)	2.60290177
25	Abnormal pupillary function (HP:0007686)	2.59391827
26	Anal stenosis (HP:0002025)	2.58628084
27	Limb ataxia (HP:0002070)	2.58528902
28	Abolished electroretinogram (ERG) (HP:0000550)	2.58392705
29	Vaginal fistula (HP:0004320)	2.49894283
30	Intestinal fistula (HP:0100819)	2.43730220
31	Atonic seizures (HP:0010819)	2.36909183
32	Hyperglycinemia (HP:0002154)	2.32785217
33	Stenosis of the external auditory canal (HP:0000402)	2.28665978
34	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	2.28538248
35	Short 1st metacarpal (HP:0010034)	2.28538248
36	Bicuspid aortic valve (HP:0001647)	2.26541095
37	Partial duplication of thumb phalanx (HP:0009944)	2.25493799
38	Split foot (HP:0001839)	2.23163032
39	Oculomotor apraxia (HP:0000657)	2.15727416
40	Polyneuropathy (HP:0001271)	2.14600528
41	Autoimmune hemolytic anemia (HP:0001890)	2.12925179
42	Abnormality of the 1st metacarpal (HP:0010009)	2.02270482
43	Degeneration of anterior horn cells (HP:0002398)	12.3069995
44	Abnormality of the anterior horn cell (HP:0006802)	12.3069995
45	Abnormality of the lower motor neuron (HP:0002366)	11.4853326
46	Upper motor neuron abnormality (HP:0002127)	10.9961672
47	Amyotrophic lateral sclerosis (HP:0007354)	10.5638073
48	Abnormal pancreas size (HP:0012094)	1.98259366
49	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.96338860
50	Camptodactyly of toe (HP:0001836)	1.92420379
51	Abnormality of macular pigmentation (HP:0008002)	1.91456263
52	Hypolipoproteinemia (HP:0010981)	1.91229333
53	2-3 toe syndactyly (HP:0004691)	1.84253176
54	Preauricular pit (HP:0004467)	1.79655225
55	Periauricular skin pits (HP:0100277)	1.79655225
56	Hypercholesterolemia (HP:0003124)	1.77417080
57	Long clavicles (HP:0000890)	1.76779492
58	Sensorimotor neuropathy (HP:0007141)	1.74628088
59	Male infertility (HP:0003251)	1.72081102
60	Gastrointestinal atresia (HP:0002589)	1.71431406
61	Rib fusion (HP:0000902)	1.70440054
62	Long nose (HP:0003189)	1.69448553
63	Aortic dissection (HP:0002647)	1.63782614
64	Multiple enchondromatosis (HP:0005701)	1.55003704
65	Autoimmune thrombocytopenia (HP:0001973)	1.54935858
66	Chronic diarrhea (HP:0002028)	1.52578692
67	Renal hypoplasia (HP:0000089)	1.52503442
68	True hermaphroditism (HP:0010459)	1.48861271
69	Aplastic anemia (HP:0001915)	1.46923000
70	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	1.46038478
71	Abnormality of the antihelix (HP:0009738)	1.43146606
72	Volvulus (HP:0002580)	1.42435518
73	Intrahepatic cholestasis (HP:0001406)	1.42105187
74	Prolonged partial thromboplastin time (HP:0003645)	1.37490645
75	Abnormal hair whorl (HP:0010721)	1.37018918
76	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.36261527
77	Joint contractures involving the joints of the feet (HP:0100492)	1.35139925
78	Flexion contracture of toe (HP:0005830)	1.35139925
79	Chronic bronchitis (HP:0004469)	1.34779529
80	Increased nuchal translucency (HP:0010880)	1.32491863
81	Hyperactive renin-angiotensin system (HP:0000841)	1.31676945
82	Lower limb asymmetry (HP:0100559)	1.31017007
83	Gait ataxia (HP:0002066)	1.28284638
84	Increased IgM level (HP:0003496)	1.27894203
85	Increased CSF protein (HP:0002922)	1.25551008
86	Abnormality of serum amino acid levels (HP:0003112)	1.23970196
87	Short phalanx of the thumb (HP:0009660)	1.20374369
88	Cystic hygroma (HP:0000476)	1.20256827
89	Pancreatic cysts (HP:0001737)	1.18786241
90	Microtia (HP:0008551)	1.18468161
91	Radioulnar synostosis (HP:0002974)	1.17933811
92	Male pseudohermaphroditism (HP:0000037)	1.16515336
93	Bowel incontinence (HP:0002607)	1.16355205
94	Abnormality of the labia minora (HP:0012880)	1.14236899
95	Septo-optic dysplasia (HP:0100842)	1.13097396
96	Cystic liver disease (HP:0006706)	1.12017570
97	Overfolded helix (HP:0000396)	1.10562146
98	Low posterior hairline (HP:0002162)	1.10417578
99	Abnormal lung lobation (HP:0002101)	1.10281978
100	Sparse scalp hair (HP:0002209)	1.09995490

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CDK6	6.01067810
2	NEK9	5.07398132
3	PINK1	4.92271758
4	BCR	4.44238637
5	EPHB2	4.36993164
6	CDK4	3.80678060
7	PRKD3	3.58879476
8	LMTK2	2.99849538
9	PRKD2	2.46438029
10	PNCK	2.44125029
11	PAK3	2.32021091
12	CASK	2.19503368
13	TNIK	2.09736956
14	STK38L	1.98578578
15	ZAK	1.91490533
16	TRIM28	1.89815612
17	MAPK13	1.55746535
18	STK24	1.46533689
19	NEK6	1.32392229
20	PLK2	1.28225824
21	SGK2	1.26368886
22	WNK3	1.19079315
23	FGFR2	1.18481560
24	PAK6	1.08885457
25	SIK3	1.01879722
26	WEE1	1.01587635
27	MINK1	0.98056725
28	NEK1	0.97256588
29	TAF1	0.93955936
30	INSRR	0.93034469
31	PKN1	0.92705144
32	SGK494	0.92565076
33	SGK223	0.92565076
34	MATK	0.91132521
35	TESK1	0.90408475
36	PBK	0.89794996
37	GRK1	0.86666941
38	YES1	0.84784504
39	PDK2	0.81977009
40	SGK3	0.80627649
41	PLK3	0.77823177
42	PRKCI	0.77076185
43	PIK3CA	0.74169251
44	STK4	0.73521203
45	KSR1	0.72472571
46	FRK	0.72216313
47	PLK1	0.67070775
48	FGFR1	0.66983080
49	PAK1	0.64772014
50	STK39	0.62558622
51	PLK4	0.62460029
52	MAP3K7	0.62164270
53	OXSR1	0.57640070
54	BRD4	0.55967417
55	TTK	0.54864214
56	KSR2	0.53540261
57	AURKA	0.52177974
58	MST4	0.52140976
59	MAP3K12	0.48080905
60	PRKG2	0.45788993
61	PRKCE	0.45577698
62	EPHA4	0.45097258
63	NTRK1	0.43449853
64	PAK2	0.42473644
65	TYRO3	0.39735813
66	ATM	0.39679921
67	PRKAA1	0.39493503
68	AKT3	0.39439277
69	NEK2	0.38445638
70	IKBKB	0.37632739
71	ALK	0.36394992
72	CDK1	0.35751010
73	AKT1	0.33549081
74	RAF1	0.33490822
75	PRKCG	0.32789772
76	VRK1	0.31878627
77	MAP4K2	0.31853861
78	ADRBK2	0.31454939
79	CSNK1A1	0.31429885
80	CHUK	0.30188553
81	PRKAA2	0.29904401
82	PHKG2	0.28078288
83	PHKG1	0.28078288
84	STK3	0.27896328
85	PRKG1	0.27351827
86	PRKCA	0.27108584
87	CSNK1E	0.26798540
88	PRKDC	0.26767801
89	PRKACG	0.26201083
90	PRKD1	0.25249381
91	SCYL2	0.24642780
92	MAP3K2	0.23946856
93	LATS1	0.23176210
94	PRKCZ	0.23036517
95	NTRK2	0.21775489
96	NTRK3	0.20653895
97	SGK1	0.20231751
98	EGFR	0.19417871
99	ATR	0.18901430
100	LIMK1	0.17884997

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Protein export_Homo sapiens_hsa03060	7.15592620
2	Basal transcription factors_Homo sapiens_hsa03022	3.34435237
3	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	3.10153310
4	Vitamin B6 metabolism_Homo sapiens_hsa00750	3.03541590
5	Propanoate metabolism_Homo sapiens_hsa00640	3.02620228
6	RNA polymerase_Homo sapiens_hsa03020	2.78429033
7	Fat digestion and absorption_Homo sapiens_hsa04975	2.49617777
8	African trypanosomiasis_Homo sapiens_hsa05143	2.39476142
9	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	2.26001196
10	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.18691488
11	Nitrogen metabolism_Homo sapiens_hsa00910	2.17281291
12	Cysteine and methionine metabolism_Homo sapiens_hsa00270	2.16345206
13	Peroxisome_Homo sapiens_hsa04146	1.96155393
14	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.91347737
15	beta-Alanine metabolism_Homo sapiens_hsa00410	1.83192125
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.77979711
17	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.74158464
18	Cell cycle_Homo sapiens_hsa04110	1.68531734
19	Non-homologous end-joining_Homo sapiens_hsa03450	1.64967513
20	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.56570940
21	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.56218360
22	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.36905679
23	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.34089423
24	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.23061539
25	Phototransduction_Homo sapiens_hsa04744	1.21462048
26	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.20277169
27	Glutathione metabolism_Homo sapiens_hsa00480	1.16351933
28	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.14493489
29	PPAR signaling pathway_Homo sapiens_hsa03320	1.13460266
30	Histidine metabolism_Homo sapiens_hsa00340	1.10773388
31	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.10696347
32	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.10174852
33	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07119486
34	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.03154935
35	Gastric acid secretion_Homo sapiens_hsa04971	1.00482325
36	Thyroid hormone synthesis_Homo sapiens_hsa04918	1.00162144
37	Steroid biosynthesis_Homo sapiens_hsa00100	0.94591246
38	Retinol metabolism_Homo sapiens_hsa00830	0.92491544
39	Chemical carcinogenesis_Homo sapiens_hsa05204	0.90072438
40	Oocyte meiosis_Homo sapiens_hsa04114	0.87804230
41	Olfactory transduction_Homo sapiens_hsa04740	0.87326955
42	Complement and coagulation cascades_Homo sapiens_hsa04610	0.86293302
43	Selenocompound metabolism_Homo sapiens_hsa00450	0.85212818
44	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.84674950
45	Bile secretion_Homo sapiens_hsa04976	0.83534426
46	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.83157765
47	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.77918933
48	Pyruvate metabolism_Homo sapiens_hsa00620	0.77771415
49	p53 signaling pathway_Homo sapiens_hsa04115	0.77753794
50	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.77249266
51	Melanogenesis_Homo sapiens_hsa04916	0.76661414
52	Malaria_Homo sapiens_hsa05144	0.73149715
53	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.72013564
54	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.71595123
55	ABC transporters_Homo sapiens_hsa02010	0.71331087
56	Hippo signaling pathway_Homo sapiens_hsa04390	0.69510661
57	Sulfur metabolism_Homo sapiens_hsa00920	0.67032730
58	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.66557694
59	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.65916667
60	Caffeine metabolism_Homo sapiens_hsa00232	0.61121288
61	Cocaine addiction_Homo sapiens_hsa05030	0.58421418
62	Glucagon signaling pathway_Homo sapiens_hsa04922	0.57675758
63	Tyrosine metabolism_Homo sapiens_hsa00350	0.53548465
64	RNA degradation_Homo sapiens_hsa03018	0.51072637
65	Glycerolipid metabolism_Homo sapiens_hsa00561	0.50865455
66	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.49030765
67	Mineral absorption_Homo sapiens_hsa04978	0.45456616
68	Carbon metabolism_Homo sapiens_hsa01200	0.43279103
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.43058886
70	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.41924393
71	Proteasome_Homo sapiens_hsa03050	0.41710274
72	Colorectal cancer_Homo sapiens_hsa05210	0.41053295
73	Fanconi anemia pathway_Homo sapiens_hsa03460	0.40903903
74	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.40690001
75	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.40170139
76	Calcium signaling pathway_Homo sapiens_hsa04020	0.39392045
77	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.39374404
78	Metabolic pathways_Homo sapiens_hsa01100	0.38207681
79	Purine metabolism_Homo sapiens_hsa00230	0.37903607
80	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.37670691
81	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.36287086
82	Fatty acid degradation_Homo sapiens_hsa00071	0.34710635
83	Salivary secretion_Homo sapiens_hsa04970	0.33788685
84	ECM-receptor interaction_Homo sapiens_hsa04512	0.33604926
85	Regulation of autophagy_Homo sapiens_hsa04140	0.30580905
86	Taste transduction_Homo sapiens_hsa04742	0.30274097
87	MicroRNAs in cancer_Homo sapiens_hsa05206	0.28509080
88	Tight junction_Homo sapiens_hsa04530	0.27705549
89	Amphetamine addiction_Homo sapiens_hsa05031	0.27272643
90	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.26176203
91	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.25772886
92	Insulin secretion_Homo sapiens_hsa04911	0.25082715
93	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.24774244
94	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.22983720
95	Arginine biosynthesis_Homo sapiens_hsa00220	0.21654024
96	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.21558757
97	Pyrimidine metabolism_Homo sapiens_hsa00240	0.21301489
98	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.20440257
99	Amoebiasis_Homo sapiens_hsa05146	0.18060163
100	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.16665167

ARSDP1

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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