ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	complement activation, alternative pathway (GO:0006957)	5.74548288
2	regulation of protein activation cascade (GO:2000257)	5.50668119
3	regulation of complement activation (GO:0030449)	5.44369463
4	* complement activation, classical pathway (GO:0006958)	5.08359728
5	* complement activation (GO:0006956)	4.80004161
6	regulation of plasminogen activation (GO:0010755)	4.73135152
7	protein heterotrimerization (GO:0070208)	4.68214075
8	exogenous drug catabolic process (GO:0042738)	4.67463679
9	regulation of fibrinolysis (GO:0051917)	4.62311527
10	negative regulation of fibrinolysis (GO:0051918)	4.59846180
11	ethanol oxidation (GO:0006069)	4.58124532
12	protein carboxylation (GO:0018214)	4.54510508
13	peptidyl-glutamic acid carboxylation (GO:0017187)	4.54510508
14	epoxygenase P450 pathway (GO:0019373)	4.51928472
15	omega-hydroxylase P450 pathway (GO:0097267)	4.48852492
16	* protein activation cascade (GO:0072376)	4.41158042
17	drug catabolic process (GO:0042737)	4.38422689
18	negative regulation of protein activation cascade (GO:2000258)	4.20713219
19	fibrinolysis (GO:0042730)	4.14076584
20	negative regulation of complement activation (GO:0045916)	3.99111019
21	virion attachment to host cell (GO:0019062)	3.92772969
22	adhesion of symbiont to host cell (GO:0044650)	3.92772969
23	regulation of apoptotic cell clearance (GO:2000425)	3.91157377
24	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	3.74740633
25	ethanol metabolic process (GO:0006067)	3.70833392
26	cell migration involved in heart development (GO:0060973)	3.69430960
27	keratan sulfate catabolic process (GO:0042340)	3.68073778
28	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	3.64146100
29	extracellular fibril organization (GO:0043206)	3.64057199
30	adhesion of symbiont to host (GO:0044406)	3.64047567
31	extracellular matrix assembly (GO:0085029)	3.59651929
32	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.58829584
33	collagen fibril organization (GO:0030199)	3.56686307
34	urea metabolic process (GO:0019627)	3.49563300
35	opsonization (GO:0008228)	3.46244023
36	blood coagulation, intrinsic pathway (GO:0007597)	3.44995553
37	negative regulation of blood coagulation (GO:0030195)	3.41038594
38	negative regulation of hemostasis (GO:1900047)	3.41038594
39	type B pancreatic cell proliferation (GO:0044342)	3.40496545
40	fibril organization (GO:0097435)	3.32611398
41	skin morphogenesis (GO:0043589)	3.30323866
42	drug metabolic process (GO:0017144)	3.26951738
43	negative regulation of coagulation (GO:0050819)	3.24707082
44	nitrogen cycle metabolic process (GO:0071941)	3.24560944
45	glyoxylate metabolic process (GO:0046487)	3.23139863
46	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.20429536
47	L-phenylalanine catabolic process (GO:0006559)	3.20429536
48	negative regulation of wound healing (GO:0061045)	3.17502718
49	regulation of humoral immune response (GO:0002920)	3.17477104
50	basement membrane organization (GO:0071711)	3.14160524
51	endodermal cell differentiation (GO:0035987)	3.06302557
52	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.06108335
53	L-phenylalanine metabolic process (GO:0006558)	3.06108335
54	acute-phase response (GO:0006953)	3.05221224
55	vascular endothelial growth factor signaling pathway (GO:0038084)	3.04903853
56	cellular glucuronidation (GO:0052695)	3.03803284
57	positive regulation of extracellular matrix organization (GO:1903055)	3.02666416
58	tooth mineralization (GO:0034505)	3.01131718
59	negative regulation of humoral immune response (GO:0002921)	3.00651573
60	positive regulation of lipoprotein lipase activity (GO:0051006)	3.00271367
61	positive regulation of triglyceride lipase activity (GO:0061365)	3.00271367
62	urea cycle (GO:0000050)	2.99436002
63	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	2.97208130
64	sequestering of extracellular ligand from receptor (GO:0035581)	2.97117414
65	blood vessel maturation (GO:0001955)	2.95843628
66	bile acid biosynthetic process (GO:0006699)	2.91676221
67	bile acid metabolic process (GO:0008206)	2.90219229
68	negative regulation of fatty acid transport (GO:2000192)	2.88789931
69	collagen metabolic process (GO:0032963)	2.86052209
70	uronic acid metabolic process (GO:0006063)	2.84333832
71	glucuronate metabolic process (GO:0019585)	2.84333832
72	regulation of triglyceride catabolic process (GO:0010896)	2.84241184
73	regulation of extracellular matrix disassembly (GO:0010715)	2.80926031
74	hormone catabolic process (GO:0042447)	2.74776865
75	multicellular organismal macromolecule metabolic process (GO:0044259)	2.74609894
76	bone trabecula formation (GO:0060346)	2.72901709
77	positive regulation of hemostasis (GO:1900048)	2.72791259
78	positive regulation of blood coagulation (GO:0030194)	2.72791259
79	regulation of phospholipase A2 activity (GO:0032429)	2.71707761
80	negative regulation of lipase activity (GO:0060192)	2.71220915
81	positive regulation of endothelial cell apoptotic process (GO:2000353)	2.68168363
82	collagen catabolic process (GO:0030574)	2.65005763
83	multicellular organismal metabolic process (GO:0044236)	2.64423604
84	glomerular basement membrane development (GO:0032836)	2.63541964
85	cellular response to vascular endothelial growth factor stimulus (GO:0035924)	2.63497711
86	negative regulation of cholesterol transport (GO:0032375)	2.63485158
87	negative regulation of sterol transport (GO:0032372)	2.63485158
88	metanephric mesenchyme development (GO:0072075)	2.63317759
89	bile acid and bile salt transport (GO:0015721)	2.62825259
90	extracellular matrix disassembly (GO:0022617)	2.61616132
91	glomerular filtration (GO:0003094)	2.54525187
92	barbed-end actin filament capping (GO:0051016)	2.52818519
93	multicellular organismal catabolic process (GO:0044243)	2.52689906
94	positive regulation of coagulation (GO:0050820)	2.52312625
95	dermatan sulfate metabolic process (GO:0030205)	2.49360285
96	negative regulation of smooth muscle cell migration (GO:0014912)	2.48029371
97	positive regulation of lipid catabolic process (GO:0050996)	2.46587719
98	mesenchymal-epithelial cell signaling (GO:0060638)	2.46374331
99	dermatan sulfate biosynthetic process (GO:0030208)	2.45287173
100	hyaluronan catabolic process (GO:0030214)	2.45178887

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	4.57352595
2	TRIM28_21343339_ChIP-Seq_HEK293_Human	4.55118124
3	RARG_19884340_ChIP-ChIP_MEFs_Mouse	4.16699922
4	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	3.82799552
5	RXR_22158963_ChIP-Seq_LIVER_Mouse	3.14242903
6	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.92436283
7	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.84986372
8	* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.64538572
9	LXR_22158963_ChIP-Seq_LIVER_Mouse	2.62000970
10	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.60325844
11	PPARA_22158963_ChIP-Seq_LIVER_Mouse	2.55298089
12	CLOCK_20551151_ChIP-Seq_293T_Human	2.34228831
13	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	2.20238822
14	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	2.15134272
15	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	2.13480789
16	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	2.12881592
17	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.09396826
18	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	2.08108522
19	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.95422006
20	CJUN_26792858_Chip-Seq_BT549_Human	1.69597607
21	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.69045417
22	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.61423357
23	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.56071483
24	LXR_22292898_ChIP-Seq_THP-1_Human	1.55823895
25	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.55658475
26	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	1.54713793
27	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.51509454
28	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.49878456
29	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.49306067
30	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.48058173
31	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.45038369
32	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.42190538
33	* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.37552882
34	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.34788956
35	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.32866352
36	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.31108557
37	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.28700563
38	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.28700563
39	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.28103320
40	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.25731329
41	SMC1_22415368_ChIP-Seq_MEFs_Mouse	1.25272583
42	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.24054078
43	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.21187956
44	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.20368624
45	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.20368624
46	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.18916349
47	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.18184523
48	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.17262085
49	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.17030239
50	BRD4_25478319_ChIP-Seq_HGPS_Human	1.15615865
51	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.12546752
52	SOX2_20726797_ChIP-Seq_SW620_Human	1.10598451
53	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.10213481
54	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.10106829
55	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.10061894
56	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.09548698
57	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.09081563
58	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.09081563
59	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.08598999
60	TP53_18474530_ChIP-ChIP_U2OS_Human	1.08511713
61	SA1_22415368_ChIP-Seq_MEFs_Mouse	1.07349112
62	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.04894113
63	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.04014438
64	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.03445713
65	RACK7_27058665_Chip-Seq_MCF-7_Human	1.03152438
66	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.00610513
67	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.99542871
68	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	0.98770172
69	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.97926164
70	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.97624444
71	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.97233408
72	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.96464333
73	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	0.94814177
74	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.94612411
75	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.94485398
76	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	0.93666559
77	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	0.93270051
78	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.93198565
79	CDX2_20551321_ChIP-Seq_CACO-2_Human	0.92213994
80	KDM2B_26808549_Chip-Seq_SUP-B15_Human	0.90541919
81	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.90465568
82	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.89792876
83	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.89477673
84	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.89264545
85	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	0.87677669
86	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.87519014
87	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	0.87044996
88	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.86334259
89	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	0.86162467
90	SOX2_27498859_Chip-Seq_STOMACH_Mouse	0.84549173
91	DROSHA_22980978_ChIP-Seq_HELA_Human	0.83921722
92	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.83784090
93	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.83719930
94	TP53_16413492_ChIP-PET_HCT116_Human	0.82852383
95	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.82508629
96	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.82189417
97	KDM2B_26808549_Chip-Seq_K562_Human	0.81982444
98	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	0.80504746
99	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	0.80504746
100	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	0.78803518

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	7.28959051
2	MP0005503_abnormal_tendon_morphology	5.53664891
3	MP0005275_abnormal_skin_tensile	4.99213283
4	MP0001958_emphysema	3.64223509
5	MP0003705_abnormal_hypodermis_morpholog	3.54956075
6	MP0002139_abnormal_hepatobiliary_system	3.39228878
7	MP0003279_aneurysm	3.34766432
8	MP0004272_abnormal_basement_membrane	3.11629312
9	MP0010368_abnormal_lymphatic_system	2.69470823
10	MP0005360_urolithiasis	2.57871721
11	MP0005257_abnormal_intraocular_pressure	2.51556683
12	MP0006054_spinal_hemorrhage	2.35882187
13	MP0005365_abnormal_bile_salt	2.26338462
14	MP0005085_abnormal_gallbladder_physiolo	2.15390319
15	MP0005023_abnormal_wound_healing	1.97651577
16	MP0000751_myopathy	1.96851418
17	MP0001542_abnormal_bone_strength	1.92937607
18	MP0009840_abnormal_foam_cell	1.89910650
19	MP0002295_abnormal_pulmonary_circulatio	1.85598280
20	MP0002108_abnormal_muscle_morphology	1.84205800
21	MP0005508_abnormal_skeleton_morphology	1.78636967
22	MP0009384_cardiac_valve_regurgitation	1.78312712
23	MP0002060_abnormal_skin_morphology	1.72980931
24	MP0008875_abnormal_xenobiotic_pharmacok	1.71233961
25	MP0003191_abnormal_cellular_cholesterol	1.63470596
26	MP0003566_abnormal_cell_adhesion	1.59763085
27	MP0003252_abnormal_bile_duct	1.49655969
28	MP0000767_abnormal_smooth_muscle	1.49388056
29	MP0002933_joint_inflammation	1.43972887
30	MP0004858_abnormal_nervous_system	1.34518865
31	MP0002138_abnormal_hepatobiliary_system	1.33091832
32	MP0003091_abnormal_cell_migration	1.31303814
33	MP0001243_abnormal_dermal_layer	1.23372401
34	MP0005670_abnormal_white_adipose	1.23044358
35	MP0002896_abnormal_bone_mineralization	1.22783339
36	MP0005164_abnormal_response_to	1.22773089
37	MP0002254_reproductive_system_inflammat	1.20657043
38	MP0003868_abnormal_feces_composition	1.20512011
39	MP0005390_skeleton_phenotype	1.19503714
40	MP0005595_abnormal_vascular_smooth	1.18978426
41	MP0001666_abnormal_nutrient_absorption	1.18804300
42	MP0010329_abnormal_lipoprotein_level	1.14450457
43	MP0000604_amyloidosis	1.14326165
44	MP0003300_gastrointestinal_ulcer	1.10533504
45	MP0005058_abnormal_lysosome_morphology	1.05066084
46	MP0003011_delayed_dark_adaptation	1.00068438
47	MP0003724_increased_susceptibility_to	0.99948313
48	MP0001879_abnormal_lymphatic_vessel	0.99412748
49	MP0001661_extended_life_span	0.99318070
50	MP0001533_abnormal_skeleton_physiology	0.98767495
51	MP0000013_abnormal_adipose_tissue	0.96874220
52	MP0003195_calcinosis	0.93527323
53	MP0002998_abnormal_bone_remodeling	0.92076969
54	MP0002249_abnormal_larynx_morphology	0.87552736
55	MP0008004_abnormal_stomach_pH	0.86628222
56	MP0000249_abnormal_blood_vessel	0.86529001
57	MP0004883_abnormal_blood_vessel	0.86275801
58	MP0003329_amyloid_beta_deposits	0.84734308
59	MP0002971_abnormal_brown_adipose	0.84073474
60	MP0005332_abnormal_amino_acid	0.84037460
61	MP0010352_gastrointestinal_tract_polyps	0.81188602
62	MP0009780_abnormal_chondrocyte_physiolo	0.79288521
63	MP0000163_abnormal_cartilage_morphology	0.78927210
64	MP0003950_abnormal_plasma_membrane	0.78518827
65	MP0002128_abnormal_blood_circulation	0.77803991
66	MP0005388_respiratory_system_phenotype	0.77513655
67	MP0002133_abnormal_respiratory_system	0.77513655
68	MP0000343_altered_response_to	0.74840486
69	MP0002282_abnormal_trachea_morphology	0.74622180
70	MP0000467_abnormal_esophagus_morphology	0.74560837
71	MP0002168_other_aberrant_phenotype	0.73947307
72	MP0002876_abnormal_thyroid_physiology	0.73229383
73	MP0003448_altered_tumor_morphology	0.71860591
74	MP0005409_darkened_coat_color	0.71691245
75	MP0004019_abnormal_vitamin_homeostasis	0.71555751
76	MP0009053_abnormal_anal_canal	0.70576230
77	MP0001849_ear_inflammation	0.70096115
78	MP0002115_abnormal_skeleton_extremities	0.68928355
79	MP0005165_increased_susceptibility_to	0.68615180
80	MP0005623_abnormal_meninges_morphology	0.68583484
81	MP0003941_abnormal_skin_development	0.66894631
82	MP0009250_abnormal_appendicular_skeleto	0.66651649
83	MP0001915_intracranial_hemorrhage	0.66296145
84	MP0006138_congestive_heart_failure	0.65699548
85	MP0010386_abnormal_urinary_bladder	0.65035163
86	MP0000462_abnormal_digestive_system	0.64870387
87	MP0002118_abnormal_lipid_homeostasis	0.64453784
88	MP0001348_abnormal_lacrimal_gland	0.61472142
89	MP0001614_abnormal_blood_vessel	0.60968014
90	MP0000681_abnormal_thyroid_gland	0.56601629
91	MP0000003_abnormal_adipose_tissue	0.56312618
92	MP0000609_abnormal_liver_physiology	0.56147378
93	MP0000534_abnormal_ureter_morphology	0.56049893
94	MP0003795_abnormal_bone_structure	0.55408367
95	MP0005197_abnormal_uvea_morphology	0.55014467
96	MP0001175_abnormal_lung_morphology	0.54902635
97	MP0003115_abnormal_respiratory_system	0.54448798
98	MP0004782_abnormal_surfactant_physiolog	0.51768132
99	MP0003186_abnormal_redox_activity	0.50843981
100	MP0002113_abnormal_skeleton_development	0.50554915

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Protrusio acetabuli (HP:0003179)	6.89032785
2	Systemic lupus erythematosus (HP:0002725)	6.08692682
3	Premature rupture of membranes (HP:0001788)	5.90062154
4	* Complement deficiency (HP:0004431)	5.89933101
5	* Abnormality of complement system (HP:0005339)	5.62177271
6	Aortic aneurysm (HP:0004942)	4.78816773
7	Abnormality of monocarboxylic acid metabolism (HP:0010996)	4.35070996
8	Aortic dissection (HP:0002647)	4.35009456
9	Vascular tortuosity (HP:0004948)	4.20639649
10	Ankle contracture (HP:0006466)	4.14499057
11	Deep venous thrombosis (HP:0002625)	3.88860970
12	Broad metatarsal (HP:0001783)	3.83590610
13	Follicular hyperkeratosis (HP:0007502)	3.75998737
14	Glomerulonephritis (HP:0000099)	3.75884644
15	Soft skin (HP:0000977)	3.71136980
16	Bladder diverticulum (HP:0000015)	3.64368028
17	Type 1 muscle fiber predominance (HP:0003803)	3.61011970
18	Vertebral compression fractures (HP:0002953)	3.58538129
19	Cervical subluxation (HP:0003308)	3.54566837
20	Arterial tortuosity (HP:0005116)	3.35426740
21	Wormian bones (HP:0002645)	3.19462068
22	Atrophic scars (HP:0001075)	3.10739609
23	Peritonitis (HP:0002586)	3.07991398
24	Neonatal short-limb short stature (HP:0008921)	3.01444315
25	Dilatation of the ascending aorta (HP:0005111)	2.98797051
26	Mitral stenosis (HP:0001718)	2.96240770
27	Fragile skin (HP:0001030)	2.94543534
28	Shallow orbits (HP:0000586)	2.93907771
29	Spinal rigidity (HP:0003306)	2.93447549
30	Blue sclerae (HP:0000592)	2.92366683
31	Prolonged partial thromboplastin time (HP:0003645)	2.91830173
32	Cerebral aneurysm (HP:0004944)	2.91658999
33	Slender build (HP:0001533)	2.90590726
34	Increased variability in muscle fiber diameter (HP:0003557)	2.87944845
35	Wrist flexion contracture (HP:0001239)	2.76666585
36	Biconcave vertebral bodies (HP:0004586)	2.76319802
37	Joint hemorrhage (HP:0005261)	2.63650900
38	Abnormality of dentin (HP:0010299)	2.63481408
39	* Nephritis (HP:0000123)	2.63261919
40	Aneurysm (HP:0002617)	2.63124842
41	Hyperlipoproteinemia (HP:0010980)	2.58762871
42	Abnormal delivery (HP:0001787)	2.56260288
43	Increased connective tissue (HP:0009025)	2.55819405
44	Conjugated hyperbilirubinemia (HP:0002908)	2.55633051
45	Spondylolisthesis (HP:0003302)	2.53990436
46	Xanthomatosis (HP:0000991)	2.49244649
47	Mitral valve prolapse (HP:0001634)	2.47784876
48	Mildly elevated creatine phosphokinase (HP:0008180)	2.47430497
49	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.47058208
50	Joint stiffness (HP:0001387)	2.45253461
51	Genu recurvatum (HP:0002816)	2.45199585
52	Osteolytic defects of the hand bones (HP:0009699)	2.43637724
53	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.43637724
54	Abnormality of skeletal muscle fiber size (HP:0012084)	2.37158115
55	Aortic regurgitation (HP:0001659)	2.36656982
56	Joint laxity (HP:0001388)	2.36467113
57	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.33665888
58	Hyperextensible skin (HP:0000974)	2.31781789
59	Overgrowth (HP:0001548)	2.27242863
60	Emphysema (HP:0002097)	2.20773288
61	Aortic valve stenosis (HP:0001650)	2.19964611
62	Hypobetalipoproteinemia (HP:0003563)	2.18699239
63	Bowel diverticulosis (HP:0005222)	2.18077952
64	Abnormality of the acetabulum (HP:0003170)	2.15240591
65	Cardiovascular calcification (HP:0011915)	2.15196165
66	Wide anterior fontanel (HP:0000260)	2.13328385
67	Intrahepatic cholestasis (HP:0001406)	2.12155903
68	Mitral regurgitation (HP:0001653)	2.06481180
69	Nonimmune hydrops fetalis (HP:0001790)	2.04003557
70	Hypoalphalipoproteinemia (HP:0003233)	2.02780952
71	Ectopia lentis (HP:0001083)	1.98775566
72	Pulmonary artery stenosis (HP:0004415)	1.98301421
73	Coronal craniosynostosis (HP:0004440)	1.97306882
74	Striae distensae (HP:0001065)	1.96724253
75	Abnormality of the intrinsic pathway (HP:0010989)	1.95484319
76	Persistence of primary teeth (HP:0006335)	1.91107936
77	Abnormality of the common coagulation pathway (HP:0010990)	1.90341376
78	Ovoid vertebral bodies (HP:0003300)	1.88940326
79	Skin nodule (HP:0200036)	1.88552778
80	Hemorrhage of the eye (HP:0011885)	1.87251490
81	Recurrent gram-negative bacterial infections (HP:0005420)	1.86113317
82	Hypoventilation (HP:0002791)	1.85224545
83	Urinary glycosaminoglycan excretion (HP:0003541)	1.85020461
84	Mucopolysacchariduria (HP:0008155)	1.85020461
85	Abnormality of proline metabolism (HP:0010907)	1.84524062
86	Hydroxyprolinuria (HP:0003080)	1.84524062
87	Hypolipoproteinemia (HP:0010981)	1.84052611
88	Coxa vara (HP:0002812)	1.83767158
89	Elbow flexion contracture (HP:0002987)	1.83652886
90	Round ear (HP:0100830)	1.81997092
91	Osteoarthritis (HP:0002758)	1.81229800
92	Gingival overgrowth (HP:0000212)	1.80476519
93	Ulnar bowing (HP:0003031)	1.79283817
94	Abnormality of the Achilles tendon (HP:0005109)	1.78657555
95	Generalized amyotrophy (HP:0003700)	1.78028442
96	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.75383986
97	Abnormality of polysaccharide metabolism (HP:0011012)	1.75383986
98	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.75383986
99	Turricephaly (HP:0000262)	1.75092149
100	Mild short stature (HP:0003502)	1.74779674

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ERN1	4.70700003
2	MYLK	4.41895562
3	PDGFRA	3.91571170
4	RIPK1	3.33995093
5	DDR2	3.30365141
6	TRIB3	2.49356599
7	FGFR4	2.39190891
8	TGFBR2	2.36395154
9	EPHA3	2.14098876
10	SIK1	2.12917413
11	EPHB2	2.07219568
12	CDC42BPA	2.06412007
13	KIT	1.99968342
14	TTN	1.94619001
15	EPHB1	1.90294198
16	NEK9	1.78998302
17	TYK2	1.71396613
18	NTRK1	1.67611300
19	TESK1	1.63551552
20	JAK1	1.60428819
21	MAP3K6	1.59374256
22	PDGFRB	1.53937562
23	PAK2	1.53385648
24	LATS2	1.49422364
25	PTK2	1.48173503
26	ABL2	1.43130640
27	PRPF4B	1.40063158
28	MST1R	1.34321374
29	PRKD2	1.33481150
30	PIK3CG	1.32156108
31	MAPK7	1.25400066
32	MET	1.23943535
33	AKT3	1.18845018
34	MAP3K3	1.12846316
35	LATS1	1.11564719
36	GRK1	1.09527419
37	GRK5	1.08258791
38	FGFR3	1.01990579
39	PAK4	1.01118593
40	STK38	0.98611770
41	ADRBK1	0.91323006
42	DMPK	0.90644236
43	FER	0.88815876
44	NLK	0.85931644
45	MAPKAPK3	0.84809358
46	TRPM7	0.81911640
47	MAP3K7	0.81222191
48	TBK1	0.80886898
49	PRKG2	0.75340225
50	PKN2	0.74682213
51	LIMK1	0.74326213
52	ZAP70	0.74323550
53	RPS6KA2	0.73601482
54	PRKD1	0.72250775
55	MTOR	0.71932070
56	TIE1	0.71773234
57	JAK3	0.71722309
58	ROCK1	0.65146356
59	HIPK2	0.63719337
60	LMTK2	0.62737880
61	ERBB4	0.62438418
62	PIK3CA	0.62438048
63	ROCK2	0.61964568
64	DAPK3	0.61101832
65	MARK2	0.59336906
66	RET	0.57252945
67	PDPK1	0.57146711
68	MAPK4	0.56314869
69	GSK3A	0.55389758
70	CAMK2G	0.53811560
71	SMG1	0.53415741
72	PRKAA2	0.53044924
73	ICK	0.52864693
74	ILK	0.52634249
75	EEF2K	0.51679984
76	PTK2B	0.50794709
77	MAP3K1	0.50789550
78	FLT3	0.50130351
79	GRK6	0.48620572
80	RPS6KC1	0.47315423
81	RPS6KL1	0.47315423
82	MAPK11	0.46351673
83	MAPK12	0.45706361
84	PTK6	0.45595883
85	BMX	0.44272484
86	SRC	0.43206298
87	EPHA2	0.40489831
88	KSR2	0.39982572
89	MAP2K1	0.39873206
90	GRK7	0.39353883
91	MAP2K3	0.39293382
92	PIM2	0.39289211
93	ADRBK2	0.38193360
94	PRKACG	0.38005918
95	MELK	0.37699950
96	TGFBR1	0.37541808
97	JAK2	0.34998008
98	MAP3K2	0.34703629
99	TAOK2	0.34120428
100	RPS6KA6	0.33300402

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	* Complement and coagulation cascades_Homo sapiens_hsa04610	4.40911545
2	Caffeine metabolism_Homo sapiens_hsa00232	3.10992975
3	Primary bile acid biosynthesis_Homo sapiens_hsa00120	3.04276350
4	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.86570286
5	Retinol metabolism_Homo sapiens_hsa00830	2.83038326
6	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.53707916
7	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.53144914
8	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.40874388
9	Chemical carcinogenesis_Homo sapiens_hsa05204	2.32665482
10	Tyrosine metabolism_Homo sapiens_hsa00350	2.23661570
11	Phenylalanine metabolism_Homo sapiens_hsa00360	2.21156747
12	ECM-receptor interaction_Homo sapiens_hsa04512	2.16643989
13	Fatty acid degradation_Homo sapiens_hsa00071	2.12343539
14	* Staphylococcus aureus infection_Homo sapiens_hsa05150	2.07917601
15	Arginine biosynthesis_Homo sapiens_hsa00220	2.07510158
16	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.05870050
17	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.04639734
18	Histidine metabolism_Homo sapiens_hsa00340	2.03157641
19	Prion diseases_Homo sapiens_hsa05020	1.92966568
20	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.88833244
21	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.70870335
22	PPAR signaling pathway_Homo sapiens_hsa03320	1.67593382
23	Bile secretion_Homo sapiens_hsa04976	1.63647279
24	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.63582073
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.49260096
26	Protein digestion and absorption_Homo sapiens_hsa04974	1.44861078
27	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.44505542
28	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.39735598
29	Linoleic acid metabolism_Homo sapiens_hsa00591	1.33735133
30	Focal adhesion_Homo sapiens_hsa04510	1.29256519
31	Other glycan degradation_Homo sapiens_hsa00511	1.27228618
32	Amoebiasis_Homo sapiens_hsa05146	1.24293963
33	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.22710413
34	* Pertussis_Homo sapiens_hsa05133	1.05881439
35	Fat digestion and absorption_Homo sapiens_hsa04975	0.98470104
36	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.96961317
37	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.96903944
38	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.92845076
39	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.88424865
40	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.84056558
41	ABC transporters_Homo sapiens_hsa02010	0.84043737
42	beta-Alanine metabolism_Homo sapiens_hsa00410	0.83263234
43	Butanoate metabolism_Homo sapiens_hsa00650	0.83110526
44	Arginine and proline metabolism_Homo sapiens_hsa00330	0.80081333
45	Malaria_Homo sapiens_hsa05144	0.79656451
46	Renin-angiotensin system_Homo sapiens_hsa04614	0.79452832
47	Sulfur metabolism_Homo sapiens_hsa00920	0.74141154
48	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.69087057
49	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.66890887
50	Mineral absorption_Homo sapiens_hsa04978	0.63693976
51	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.61131042
52	Proteoglycans in cancer_Homo sapiens_hsa05205	0.58323548
53	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.57674297
54	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.57623963
55	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.56781509
56	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.54196484
57	Peroxisome_Homo sapiens_hsa04146	0.54046685
58	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.52744329
59	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.52660589
60	Insulin resistance_Homo sapiens_hsa04931	0.51938794
61	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.50770903
62	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.49500307
63	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.48917319
64	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.45696241
65	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.45599433
66	Lysosome_Homo sapiens_hsa04142	0.45172440
67	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.44833944
68	Galactose metabolism_Homo sapiens_hsa00052	0.43598099
69	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.43078164
70	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.41443385
71	Glycerolipid metabolism_Homo sapiens_hsa00561	0.38926150
72	Pyruvate metabolism_Homo sapiens_hsa00620	0.35783306
73	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.33389727
74	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.32858041
75	Carbon metabolism_Homo sapiens_hsa01200	0.32606816
76	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.31168954
77	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.28289112
78	Fatty acid metabolism_Homo sapiens_hsa01212	0.26831046
79	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.26104974
80	Glutathione metabolism_Homo sapiens_hsa00480	0.25557379
81	Lysine degradation_Homo sapiens_hsa00310	0.23968976
82	Toxoplasmosis_Homo sapiens_hsa05145	0.23202390
83	AMPK signaling pathway_Homo sapiens_hsa04152	0.21512419
84	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.21456163
85	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.21183187
86	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.19994872
87	Melanoma_Homo sapiens_hsa05218	0.19613594
88	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.19226534
89	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.17924052
90	Pentose phosphate pathway_Homo sapiens_hsa00030	0.17868826
91	Adherens junction_Homo sapiens_hsa04520	0.17504590
92	Bladder cancer_Homo sapiens_hsa05219	0.16424820
93	TNF signaling pathway_Homo sapiens_hsa04668	0.15992776
94	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.15943161
95	* Phagosome_Homo sapiens_hsa04145	0.15889502
96	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.15370776
97	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.15084846
98	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.14662768
99	Small cell lung cancer_Homo sapiens_hsa05222	0.14374159
100	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.14370430

C1R

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)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »