ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	endothelium development (GO:0003158)	9.62410984
2	lymphangiogenesis (GO:0001946)	7.74501009
3	blood vessel maturation (GO:0001955)	6.90821236
4	positive regulation of endothelial cell differentiation (GO:0045603)	5.93225468
5	retina vasculature morphogenesis in camera-type eye (GO:0061299)	5.82838367
6	regulation of endothelial cell differentiation (GO:0045601)	5.10693142
7	negative regulation of platelet activation (GO:0010544)	4.79658412
8	blood coagulation, intrinsic pathway (GO:0007597)	4.51314130
9	angiogenesis involved in wound healing (GO:0060055)	4.41375888
10	embryonic heart tube development (GO:0035050)	4.38425735
11	lymph vessel development (GO:0001945)	4.27677030
12	negative regulation of actin filament bundle assembly (GO:0032232)	3.92717078
13	endothelial cell differentiation (GO:0045446)	3.82614101
14	cAMP biosynthetic process (GO:0006171)	3.76295976
15	cell migration involved in heart development (GO:0060973)	3.75643200
16	regulation of skeletal muscle contraction (GO:0014819)	3.70792152
17	muscle filament sliding (GO:0030049)	3.68910871
18	actin-myosin filament sliding (GO:0033275)	3.68910871
19	regulation of glomerular filtration (GO:0003093)	3.59857141
20	regulation of cell migration involved in sprouting angiogenesis (GO:0090049)	3.59820975
21	G-protein coupled receptor internalization (GO:0002031)	3.47581932
22	neuron remodeling (GO:0016322)	3.46612980
23	regulation of platelet activation (GO:0010543)	3.44507436
24	regulation of integrin-mediated signaling pathway (GO:2001044)	3.42600450
25	thrombin receptor signaling pathway (GO:0070493)	3.37726860
26	positive regulation of blood vessel endothelial cell migration (GO:0043536)	3.34187790
27	actin-mediated cell contraction (GO:0070252)	3.33510590
28	negative regulation of blood vessel endothelial cell migration (GO:0043537)	3.32822766
29	type B pancreatic cell development (GO:0003323)	3.32342837
30	artery development (GO:0060840)	3.31301198
31	plasma membrane fusion (GO:0045026)	3.25396757
32	positive regulation of glomerulus development (GO:0090193)	3.24341023
33	positive regulation of receptor recycling (GO:0001921)	3.21225529
34	sprouting angiogenesis (GO:0002040)	3.15874175
35	regulation of blood vessel endothelial cell migration (GO:0043535)	3.15209595
36	platelet degranulation (GO:0002576)	3.13064941
37	positive regulation of endothelial cell migration (GO:0010595)	3.12737305
38	regulation of establishment or maintenance of cell polarity (GO:0032878)	3.08138359
39	negative regulation of adherens junction organization (GO:1903392)	3.07352525
40	negative regulation of focal adhesion assembly (GO:0051895)	3.07352525
41	negative regulation of cell junction assembly (GO:1901889)	3.07352525
42	regulation of integrin activation (GO:0033623)	3.06662853
43	regulation of lipoprotein metabolic process (GO:0050746)	3.05071154
44	patterning of blood vessels (GO:0001569)	3.04237131
45	venous blood vessel morphogenesis (GO:0048845)	3.04008369
46	response to magnesium ion (GO:0032026)	3.03504457
47	substrate-dependent cell migration (GO:0006929)	2.98147319
48	skeletal muscle adaptation (GO:0043501)	2.97519145
49	vascular endothelial growth factor receptor signaling pathway (GO:0048010)	2.97293481
50	vascular endothelial growth factor signaling pathway (GO:0038084)	2.97078136
51	sulfur amino acid catabolic process (GO:0000098)	2.96954856
52	cell proliferation involved in metanephros development (GO:0072203)	2.96928903
53	phagocytosis, recognition (GO:0006910)	2.94907478
54	positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)	2.86966711
55	nephron epithelium development (GO:0072009)	2.84563969
56	regulation of endothelial cell migration (GO:0010594)	2.83310497
57	positive regulation of urine volume (GO:0035810)	2.82432553
58	embryonic viscerocranium morphogenesis (GO:0048703)	2.81867096
59	negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)	2.81709655
60	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.80825134
61	axon extension involved in axon guidance (GO:0048846)	2.80825134
62	negative regulation of myoblast differentiation (GO:0045662)	2.78906655
63	regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	2.75143277
64	regulation of p38MAPK cascade (GO:1900744)	2.73618697
65	cGMP-mediated signaling (GO:0019934)	2.72832078
66	cellular response to vascular endothelial growth factor stimulus (GO:0035924)	2.72416378
67	establishment of endothelial barrier (GO:0061028)	2.72065283
68	negative regulation of endothelial cell migration (GO:0010596)	2.71236408
69	response to muscle activity (GO:0014850)	2.69466903
70	positive regulation of steroid hormone secretion (GO:2000833)	2.67941628
71	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.67821359
72	potassium ion export (GO:0071435)	2.67624328
73	wound healing, spreading of epidermal cells (GO:0035313)	2.64938497
74	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.64830146
75	positive regulation of p38MAPK cascade (GO:1900745)	2.63970917
76	mRNA transcription from RNA polymerase II promoter (GO:0042789)	2.62647717
77	glomerular filtration (GO:0003094)	2.60653943
78	actin filament-based movement (GO:0030048)	2.60584251
79	morphogenesis of an endothelium (GO:0003159)	2.59169499
80	endothelial tube morphogenesis (GO:0061154)	2.59169499
81	receptor internalization (GO:0031623)	2.58210923
82	regulation of phospholipid biosynthetic process (GO:0071071)	2.57722374
83	cardiac muscle hypertrophy (GO:0003300)	2.56641258
84	coronary vasculature morphogenesis (GO:0060977)	2.55461069
85	mRNA transcription (GO:0009299)	2.53782551
86	negative regulation of Rho protein signal transduction (GO:0035024)	2.52855637
87	cyclic purine nucleotide metabolic process (GO:0052652)	2.50652014
88	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.50584856
89	positive regulation of epithelial cell migration (GO:0010634)	2.50155998
90	vasculogenesis (GO:0001570)	2.49905859
91	dendritic spine morphogenesis (GO:0060997)	2.49433478
92	regulation of sequestering of triglyceride (GO:0010889)	2.49171422
93	plasma membrane repair (GO:0001778)	2.46558439
94	striated muscle hypertrophy (GO:0014897)	2.46269166
95	striated muscle atrophy (GO:0014891)	2.46181274
96	dendritic spine organization (GO:0097061)	2.45386021
97	positive regulation of chondrocyte differentiation (GO:0032332)	2.45203183
98	cellular response to pH (GO:0071467)	2.44651887
99	sarcomere organization (GO:0045214)	2.43740506
100	sarcoplasmic reticulum calcium ion transport (GO:0070296)	2.43628704

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	7.02548487
2	GATA2_21666600_ChIP-Seq_HMVEC_Human	3.63817742
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.79203360
4	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.71680514
5	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	2.69697678
6	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.14618005
7	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.10933202
8	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.03445171
9	GATA1_19941826_ChIP-Seq_K562_Human	1.97018111
10	EZH2_22144423_ChIP-Seq_EOC_Human	1.79547313
11	ZNF263_19887448_ChIP-Seq_K562_Human	1.66672029
12	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.64467670
13	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.64467670
14	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.61228986
15	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.60675145
16	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.59342262
17	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.59342262
18	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.51556789
19	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.50691674
20	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.49944169
21	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.49912760
22	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.49638793
23	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.48852390
24	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.45262139
25	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.44947911
26	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.44111249
27	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.43347892
28	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.42248660
29	VDR_22108803_ChIP-Seq_LS180_Human	1.40383606
30	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.39506860
31	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.37838253
32	SCL_19346495_ChIP-Seq_HPC-7_Human	1.37076157
33	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.31980796
34	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.31887609
35	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.30971458
36	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.30076268
37	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.29597988
38	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.28364628
39	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.26185586
40	AHR_22903824_ChIP-Seq_MCF-7_Human	1.23937220
41	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.23502451
42	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.23361066
43	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.22812614
44	CJUN_26792858_Chip-Seq_BT549_Human	1.22323689
45	GATA2_19941826_ChIP-Seq_K562_Human	1.22287981
46	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.21257637
47	IGF1R_20145208_ChIP-Seq_DFB_Human	1.20221194
48	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.20125895
49	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	1.19511888
50	GATA1_19941827_ChIP-Seq_MEL_Mouse	1.15328049
51	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.15255971
52	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.14914977
53	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.13167187
54	SPI1_23127762_ChIP-Seq_K562_Human	1.11509449
55	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.11334778
56	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.10522432
57	CTCF_27219007_Chip-Seq_Bcells_Human	1.08944884
58	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.08781638
59	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.08128104
60	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.08100274
61	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.06111937
62	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.05717281
63	GBX2_23144817_ChIP-Seq_PC3_Human	1.04537884
64	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01721614
65	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.99948765
66	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.99408610
67	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.99017629
68	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.98498341
69	LXR_22292898_ChIP-Seq_THP-1_Human	0.98042035
70	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.96668226
71	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.93271628
72	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.92331856
73	BCAT_22108803_ChIP-Seq_LS180_Human	0.92230959
74	AR_21572438_ChIP-Seq_LNCaP_Human	0.92220080
75	DROSHA_22980978_ChIP-Seq_HELA_Human	0.90014041
76	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.89991558
77	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.89505108
78	SPI1_20517297_ChIP-Seq_HL60_Human	0.89348777
79	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.88977571
80	RXR_22108803_ChIP-Seq_LS180_Human	0.88191835
81	LXR_22158963_ChIP-Seq_LIVER_Mouse	0.87577954
82	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.86979238
83	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	0.84384750
84	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.83436143
85	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.83391945
86	GF1_26923725_Chip-Seq_HPCs_Mouse	0.82309276
87	RUNX_20019798_ChIP-Seq_JUKART_Human	0.81658281
88	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.81152677
89	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.79672550
90	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.79060585
91	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.78780287
92	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	0.78482070
93	MYC_27129775_Chip-Seq_CORNEA_Mouse	0.78191757
94	KDM2B_26808549_Chip-Seq_K562_Human	0.78109872
95	KLF4_19829295_ChIP-Seq_ESCs_Human	0.76835951
96	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	0.76243655
97	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.75486428
98	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.75282054
99	NR3C1_23031785_ChIP-Seq_PC12_Mouse	0.74750713
100	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.74616701

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010368_abnormal_lymphatic_system	6.56377257
2	MP0005167_abnormal_blood-brain_barrier	5.64497667
3	MP0001879_abnormal_lymphatic_vessel	4.79591557
4	MP0008004_abnormal_stomach_pH	3.29400115
5	MP0003828_pulmonary_edema	3.20722970
6	MP0000465_gastrointestinal_hemorrhage	3.09930897
7	MP0004272_abnormal_basement_membrane	3.05723437
8	MP0006138_congestive_heart_failure	2.82432908
9	MP0004084_abnormal_cardiac_muscle	2.79012876
10	MP0005409_darkened_coat_color	2.78670023
11	MP0004145_abnormal_muscle_electrophysio	2.72960360
12	MP0004036_abnormal_muscle_relaxation	2.55680448
13	MP0003646_muscle_fatigue	2.50605516
14	MP0003724_increased_susceptibility_to	2.36440694
15	MP0000751_myopathy	2.34044549
16	MP0010030_abnormal_orbit_morphology	2.19681252
17	MP0003279_aneurysm	2.09212564
18	MP0000767_abnormal_smooth_muscle	2.05047617
19	MP0004215_abnormal_myocardial_fiber	2.02798578
20	MP0005464_abnormal_platelet_physiology	1.99353453
21	MP0000343_altered_response_to	1.84912272
22	MP0005595_abnormal_vascular_smooth	1.84271403
23	MP0000749_muscle_degeneration	1.82885346
24	MP0002332_abnormal_exercise_endurance	1.71820714
25	MP0002877_abnormal_melanocyte_morpholog	1.70639245
26	MP0004510_myositis	1.68969086
27	MP0005670_abnormal_white_adipose	1.67196718
28	MP0005385_cardiovascular_system_phenoty	1.66258014
29	MP0001544_abnormal_cardiovascular_syste	1.66258014
30	MP0005620_abnormal_muscle_contractility	1.64126582
31	MP0004484_altered_response_of	1.60424566
32	MP0000249_abnormal_blood_vessel	1.59918056
33	MP0002638_abnormal_pupillary_reflex	1.58831307
34	MP0002106_abnormal_muscle_physiology	1.58713633
35	MP0002127_abnormal_cardiovascular_syste	1.57488559
36	MP0004233_abnormal_muscle_weight	1.56930617
37	MP0003075_altered_response_to	1.53661596
38	MP0004087_abnormal_muscle_fiber	1.50041971
39	MP0003705_abnormal_hypodermis_morpholog	1.48222493
40	MP0005165_increased_susceptibility_to	1.47661043
41	MP0002972_abnormal_cardiac_muscle	1.40826052
42	MP0004130_abnormal_muscle_cell	1.39149582
43	MP0005083_abnormal_biliary_tract	1.36027977
44	MP0002138_abnormal_hepatobiliary_system	1.35674454
45	MP0003303_peritoneal_inflammation	1.35140732
46	MP0003566_abnormal_cell_adhesion	1.33379277
47	MP0008775_abnormal_heart_ventricle	1.33004163
48	MP0005623_abnormal_meninges_morphology	1.32470065
49	MP0005369_muscle_phenotype	1.31821769
50	MP0005275_abnormal_skin_tensile	1.31258187
51	MP0005410_abnormal_fertilization	1.26770782
52	MP0002128_abnormal_blood_circulation	1.26697584
53	MP0000747_muscle_weakness	1.24592307
54	MP0003091_abnormal_cell_migration	1.22822871
55	MP0000759_abnormal_skeletal_muscle	1.21902802
56	MP0005330_cardiomyopathy	1.19869769
57	MP0002108_abnormal_muscle_morphology	1.13723240
58	MP0004085_abnormal_heartbeat	1.11527078
59	MP0001661_extended_life_span	1.11368568
60	MP0003045_fibrosis	1.09364593
61	MP0001614_abnormal_blood_vessel	1.09162740
62	MP0003868_abnormal_feces_composition	1.02965186
63	MP0002269_muscular_atrophy	0.99826846
64	MP0000230_abnormal_systemic_arterial	0.97528170
65	MP0002933_joint_inflammation	0.96721715
66	MP0000750_abnormal_muscle_regeneration	0.95470524
67	MP0008438_abnormal_cutaneous_collagen	0.94765984
68	MP0010630_abnormal_cardiac_muscle	0.94381548
69	MP0002925_abnormal_cardiovascular_devel	0.89620758
70	MP0003950_abnormal_plasma_membrane	0.87045044
71	MP0001485_abnormal_pinna_reflex	0.83035571
72	MP0001784_abnormal_fluid_regulation	0.82303473
73	MP0009840_abnormal_foam_cell	0.81325561
74	MP0005377_hearing/vestibular/ear_phenot	0.81223569
75	MP0003878_abnormal_ear_physiology	0.81223569
76	MP0003638_abnormal_response/metabolism_	0.80457233
77	MP0002295_abnormal_pulmonary_circulatio	0.74682441
78	MP0009780_abnormal_chondrocyte_physiolo	0.74019462
79	MP0000266_abnormal_heart_morphology	0.72582730
80	MP0003300_gastrointestinal_ulcer	0.70964601
81	MP0002971_abnormal_brown_adipose	0.69985710
82	MP0001915_intracranial_hemorrhage	0.68358089
83	MP0005360_urolithiasis	0.63497258
84	MP0004381_abnormal_hair_follicle	0.63487062
85	MP0000013_abnormal_adipose_tissue	0.62788789
86	MP0009115_abnormal_fat_cell	0.60710895
87	MP0005023_abnormal_wound_healing	0.60368722
88	MP0005166_decreased_susceptibility_to	0.58226389
89	MP0001486_abnormal_startle_reflex	0.57250668
90	MP0001849_ear_inflammation	0.56374185
91	MP0001663_abnormal_digestive_system	0.55385804
92	MP0002998_abnormal_bone_remodeling	0.54811408
93	MP0003959_abnormal_lean_body	0.52657886
94	MP0000733_abnormal_muscle_development	0.51020500
95	MP0003935_abnormal_craniofacial_develop	0.49098949
96	MP0000049_abnormal_middle_ear	0.48892783
97	MP0003315_abnormal_perineum_morphology	0.46584932
98	MP0006054_spinal_hemorrhage	0.44092356
99	MP0006276_abnormal_autonomic_nervous	0.41757449
100	MP0002932_abnormal_joint_morphology	0.41219533

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Spontaneous hematomas (HP:0007420)	6.01583763
2	Menorrhagia (HP:0000132)	5.69232351
3	Prolonged bleeding time (HP:0003010)	5.50393956
4	Muscle fiber splitting (HP:0003555)	4.88190413
5	Esophageal varix (HP:0002040)	4.67026903
6	Conjunctival telangiectasia (HP:0000524)	4.50728701
7	Wrist flexion contracture (HP:0001239)	4.45373799
8	Polycythemia (HP:0001901)	4.39557398
9	Hyporeflexia of lower limbs (HP:0002600)	4.31705652
10	Joint hemorrhage (HP:0005261)	4.10502376
11	Increased mean platelet volume (HP:0011877)	4.06138921
12	Hematochezia (HP:0002573)	4.05893546
13	Portal hypertension (HP:0001409)	3.86945875
14	Difficulty running (HP:0009046)	3.83353838
15	Recurrent corneal erosions (HP:0000495)	3.83181673
16	Muscle fiber inclusion bodies (HP:0100299)	3.79399714
17	Epistaxis (HP:0000421)	3.74227689
18	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	3.73921959
19	Abnormal platelet volume (HP:0011876)	3.72607411
20	Abnormality of the vasculature of the conjunctiva (HP:0008054)	3.72581035
21	Adactyly (HP:0009776)	3.69093418
22	Nemaline bodies (HP:0003798)	3.62475073
23	Pigmentary retinal degeneration (HP:0001146)	3.56992416
24	Impaired platelet aggregation (HP:0003540)	3.56127770
25	Abnormal platelet function (HP:0011869)	3.56127770
26	Abnormality of the hepatic vasculature (HP:0006707)	3.54129982
27	Muscle fibrillation (HP:0010546)	3.51876211
28	Nonimmune hydrops fetalis (HP:0001790)	3.47034154
29	Petechiae (HP:0000967)	3.40712644
30	Cerebral hemorrhage (HP:0001342)	3.39837652
31	Exercise-induced myalgia (HP:0003738)	3.38394842
32	Purpura (HP:0000979)	3.36899656
33	Absent hand (HP:0004050)	3.33513014
34	Lymphangioma (HP:0100764)	3.33246861
35	Skull defect (HP:0001362)	3.31805801
36	Tongue fasciculations (HP:0001308)	3.17253666
37	Spinal rigidity (HP:0003306)	3.13145360
38	Abnormality of the intrinsic pathway (HP:0010989)	3.11665713
39	Increased variability in muscle fiber diameter (HP:0003557)	3.03020335
40	Increased connective tissue (HP:0009025)	2.96231525
41	Ventricular fibrillation (HP:0001663)	2.89455860
42	Abnormality of skeletal muscle fiber size (HP:0012084)	2.89041267
43	Abnormality of the nasal mucosa (HP:0000433)	2.87355072
44	Myotonia (HP:0002486)	2.80311804
45	Type 1 muscle fiber predominance (HP:0003803)	2.74876632
46	Venous insufficiency (HP:0005293)	2.70401544
47	Protrusio acetabuli (HP:0003179)	2.68729473
48	Aortic aneurysm (HP:0004942)	2.62407603
49	Distal lower limb muscle weakness (HP:0009053)	2.58350041
50	Hip contracture (HP:0003273)	2.58219084
51	Exercise-induced muscle cramps (HP:0003710)	2.56631784
52	EMG: myopathic abnormalities (HP:0003458)	2.56470234
53	Hyperlipoproteinemia (HP:0010980)	2.52342659
54	Asymmetric septal hypertrophy (HP:0001670)	2.48790749
55	Muscle hypertrophy of the lower extremities (HP:0008968)	2.48345223
56	Venous abnormality (HP:0002624)	2.44101277
57	Hemorrhage of the eye (HP:0011885)	2.43452140
58	Absent phalangeal crease (HP:0006109)	2.43208157
59	High pitched voice (HP:0001620)	2.42141917
60	Difficulty climbing stairs (HP:0003551)	2.40400942
61	Round ear (HP:0100830)	2.37976708
62	Hyperkalemia (HP:0002153)	2.36843529
63	Prolonged QT interval (HP:0001657)	2.32000516
64	Aortic valve stenosis (HP:0001650)	2.30524271
65	Abnormality of the calf musculature (HP:0001430)	2.26104943
66	Porencephaly (HP:0002132)	2.25207416
67	Areflexia of lower limbs (HP:0002522)	2.21825970
68	Delayed CNS myelination (HP:0002188)	2.21292585
69	Malignant hyperthermia (HP:0002047)	2.20837706
70	Bundle branch block (HP:0011710)	2.18572470
71	Distal arthrogryposis (HP:0005684)	2.16441948
72	Calf muscle hypertrophy (HP:0008981)	2.16243923
73	Syncope (HP:0001279)	2.10504914
74	Lipoatrophy (HP:0100578)	2.10492661
75	Abnormal finger flexion creases (HP:0006143)	2.03607162
76	Neonatal death (HP:0003811)	2.01868853
77	Atrial fibrillation (HP:0005110)	2.01707888
78	Cavernous hemangioma (HP:0001048)	2.01562115
79	Mucosal telangiectasiae (HP:0100579)	2.00979371
80	Abnormality of the columella (HP:0009929)	2.00941461
81	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.00443757
82	Shallow orbits (HP:0000586)	1.98562207
83	Abnormality of the right ventricle (HP:0001707)	1.96362170
84	Ventricular tachycardia (HP:0004756)	1.95216165
85	Bulbous nose (HP:0000414)	1.94873456
86	Visceral angiomatosis (HP:0100761)	1.93654997
87	Broad face (HP:0000283)	1.91909417
88	Muscular dystrophy (HP:0003560)	1.88261622
89	Dilated cardiomyopathy (HP:0001644)	1.87286649
90	Sudden death (HP:0001699)	1.86995597
91	Stroke (HP:0001297)	1.86482449
92	Abnormal EKG (HP:0003115)	1.84065154
93	Palpebral edema (HP:0100540)	1.83417912
94	Bulbar palsy (HP:0001283)	1.79880357
95	Mask-like facies (HP:0000298)	1.78812854
96	Pulmonary hypertension (HP:0002092)	1.78369839
97	Primary atrial arrhythmia (HP:0001692)	1.74503111
98	Hemangiomatosis (HP:0007461)	1.74184958
99	Cerebral aneurysm (HP:0004944)	1.73523693
100	Supraventricular arrhythmia (HP:0005115)	1.70294477

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	5.67771325
2	TGFBR2	3.21280393
3	PINK1	2.58826369
4	KDR	2.42147484
5	OBSCN	2.37241599
6	MYLK	2.26478911
7	FES	2.19811775
8	TIE1	10.7900860
9	BLK	1.98206845
10	TTN	1.95048874
11	TGFBR1	1.88886682
12	FER	1.83333084
13	MAPKAPK3	1.71050063
14	PTK2B	1.67921633
15	MAPK12	1.47554945
16	PHKG1	1.45936141
17	PHKG2	1.45936141
18	TEC	1.37761516
19	TRPM7	1.35150786
20	EPHB2	1.28219874
21	RIPK1	1.26496886
22	MARK3	1.09147488
23	LATS2	1.06156385
24	PRKAA2	0.92642615
25	PDK2	0.88866220
26	NTRK1	0.85829158
27	MAP2K3	0.85174334
28	PTK2	0.84095932
29	PIK3CG	0.80818322
30	JAK3	0.78604378
31	NLK	0.77888520
32	BMPR1B	0.75955262
33	CSK	0.75675514
34	PRKG2	0.74557024
35	BTK	0.72921829
36	EEF2K	0.72476605
37	ITK	0.71154090
38	MAP3K7	0.68948252
39	PRKD1	0.64140998
40	ZAP70	0.63794047
41	PKN1	0.60502760
42	ILK	0.60307971
43	HCK	0.56722352
44	SGK2	0.56040459
45	MAPK7	0.55979445
46	PDPK1	0.54841930
47	GRK1	0.53080274
48	BMX	0.49971847
49	DAPK3	0.49725078
50	CAMK1	0.49658927
51	TXK	0.49613962
52	MAP3K3	0.48631827
53	PDGFRB	0.48599494
54	SGK223	0.47169676
55	SGK494	0.47169676
56	RPS6KA5	0.46675161
57	ROCK1	0.45536180
58	STK39	0.44333158
59	ABL2	0.44148737
60	SGK3	0.42887276
61	SYK	0.42762176
62	CDK8	0.40146347
63	MARK2	0.38950310
64	PTK6	0.38304698
65	CAMK4	0.38137600
66	EPHB1	0.37115868
67	GRK5	0.36968315
68	PRKG1	0.36866916
69	EGFR	0.36722955
70	MAP3K11	0.36002222
71	TRIB3	0.34957221
72	AKT2	0.34874120
73	PDK1	0.33778740
74	MAP4K1	0.33051858
75	KIT	0.31623450
76	MAP2K1	0.29518274
77	RIPK4	0.27674983
78	NEK2	0.27405524
79	RET	0.27365142
80	MAPK4	0.26797248
81	MAP3K6	0.26194223
82	PRKAA1	0.22968590
83	IGF1R	0.22936015
84	STK38	0.22196895
85	MUSK	0.22125898
86	MAP3K1	0.22095018
87	CLK1	0.21721134
88	MATK	0.20116501
89	CDC42BPA	0.20107632
90	MTOR	0.19449596
91	RPS6KA6	0.19069753
92	SRC	0.18094149
93	DYRK1B	0.17848947
94	MAPKAPK5	0.17473273
95	MELK	0.16799780
96	SCYL2	0.15662492
97	PAK1	0.15536433
98	TLK1	0.14891808
99	GSK3A	0.14756837
100	PDGFRA	0.14605471

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	4.46625029
2	ECM-receptor interaction_Homo sapiens_hsa04512	3.13564808
3	Platelet activation_Homo sapiens_hsa04611	2.73370455
4	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.56122503
5	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.55547497
6	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	2.47180060
7	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.27591776
8	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	2.16641612
9	Vascular smooth muscle contraction_Homo sapiens_hsa04270	2.08960631
10	Gap junction_Homo sapiens_hsa04540	1.83895525
11	Nitrogen metabolism_Homo sapiens_hsa00910	1.79425760
12	Focal adhesion_Homo sapiens_hsa04510	1.79357607
13	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.76484883
14	Arginine biosynthesis_Homo sapiens_hsa00220	1.72820351
15	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.72449781
16	Olfactory transduction_Homo sapiens_hsa04740	1.66144323
17	Malaria_Homo sapiens_hsa05144	1.53221923
18	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.38180378
19	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.35977119
20	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.29769772
21	Complement and coagulation cascades_Homo sapiens_hsa04610	1.22235304
22	PPAR signaling pathway_Homo sapiens_hsa03320	1.19389259
23	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.19388420
24	Adherens junction_Homo sapiens_hsa04520	1.17701629
25	Alcoholism_Homo sapiens_hsa05034	1.16937483
26	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.15616228
27	Renin secretion_Homo sapiens_hsa04924	1.14885583
28	Calcium signaling pathway_Homo sapiens_hsa04020	1.13895266
29	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.08908151
30	Gastric acid secretion_Homo sapiens_hsa04971	1.07504519
31	ABC transporters_Homo sapiens_hsa02010	1.06610642
32	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.03410465
33	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.99874319
34	cAMP signaling pathway_Homo sapiens_hsa04024	0.98779934
35	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.97708943
36	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.97328363
37	Rap1 signaling pathway_Homo sapiens_hsa04015	0.96965853
38	Circadian entrainment_Homo sapiens_hsa04713	0.96846908
39	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.94309008
40	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.90694483
41	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.90596938
42	Tight junction_Homo sapiens_hsa04530	0.89580432
43	Basal cell carcinoma_Homo sapiens_hsa05217	0.86791224
44	Amoebiasis_Homo sapiens_hsa05146	0.83441073
45	Arginine and proline metabolism_Homo sapiens_hsa00330	0.82458252
46	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.80125110
47	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.79040717
48	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.77170268
49	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.76409999
50	Pancreatic secretion_Homo sapiens_hsa04972	0.73172703
51	Serotonergic synapse_Homo sapiens_hsa04726	0.72821368
52	Choline metabolism in cancer_Homo sapiens_hsa05231	0.71846531
53	Glycerolipid metabolism_Homo sapiens_hsa00561	0.71029639
54	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.69778891
55	AMPK signaling pathway_Homo sapiens_hsa04152	0.69566678
56	Circadian rhythm_Homo sapiens_hsa04710	0.69042934
57	Glutamatergic synapse_Homo sapiens_hsa04724	0.68093266
58	Glucagon signaling pathway_Homo sapiens_hsa04922	0.66110056
59	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.65522349
60	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.65498032
61	Morphine addiction_Homo sapiens_hsa05032	0.64751835
62	Cardiac muscle contraction_Homo sapiens_hsa04260	0.64089275
63	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.63711548
64	Insulin resistance_Homo sapiens_hsa04931	0.62357759
65	Bile secretion_Homo sapiens_hsa04976	0.61916566
66	Notch signaling pathway_Homo sapiens_hsa04330	0.61261756
67	Endocytosis_Homo sapiens_hsa04144	0.60741595
68	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.56008691
69	Pathways in cancer_Homo sapiens_hsa05200	0.55523322
70	Cholinergic synapse_Homo sapiens_hsa04725	0.54235462
71	Ras signaling pathway_Homo sapiens_hsa04014	0.53749957
72	Small cell lung cancer_Homo sapiens_hsa05222	0.53677419
73	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.52675158
74	Salivary secretion_Homo sapiens_hsa04970	0.52093047
75	GnRH signaling pathway_Homo sapiens_hsa04912	0.51947764
76	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.51921019
77	MAPK signaling pathway_Homo sapiens_hsa04010	0.51476412
78	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.50796556
79	Histidine metabolism_Homo sapiens_hsa00340	0.50577185
80	Prostate cancer_Homo sapiens_hsa05215	0.50013521
81	Insulin signaling pathway_Homo sapiens_hsa04910	0.48644242
82	GABAergic synapse_Homo sapiens_hsa04727	0.47379055
83	Phagosome_Homo sapiens_hsa04145	0.44113774
84	Glioma_Homo sapiens_hsa05214	0.43652524
85	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.42807172
86	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.41273378
87	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.41095111
88	Taste transduction_Homo sapiens_hsa04742	0.41049955
89	Melanogenesis_Homo sapiens_hsa04916	0.41032198
90	beta-Alanine metabolism_Homo sapiens_hsa00410	0.40860244
91	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.40768355
92	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.39767704
93	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.38283567
94	Axon guidance_Homo sapiens_hsa04360	0.37934081
95	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.37587721
96	Proteoglycans in cancer_Homo sapiens_hsa05205	0.35650076
97	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.35596591
98	Long-term depression_Homo sapiens_hsa04730	0.35556463
99	Thyroid cancer_Homo sapiens_hsa05216	0.35387161
100	Endometrial cancer_Homo sapiens_hsa05213	0.34136563

VWFP1

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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