ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	GDP-mannose metabolic process (GO:0019673)	8.61268317
2	nucleoside transmembrane transport (GO:1901642)	5.91193132
3	cell migration involved in heart development (GO:0060973)	5.33961910
4	chaperone-mediated protein transport (GO:0072321)	4.86092984
5	nucleoside transport (GO:0015858)	4.70282029
6	interferon-gamma production (GO:0032609)	4.48211076
7	positive regulation of protein kinase C signaling (GO:0090037)	4.23044809
8	endocardial cushion morphogenesis (GO:0003203)	3.88015924
9	negative regulation of cAMP-mediated signaling (GO:0043951)	3.86449952
10	extracellular fibril organization (GO:0043206)	3.83133784
11	fibril organization (GO:0097435)	3.77392106
12	atrioventricular valve morphogenesis (GO:0003181)	3.77264635
13	outer ear morphogenesis (GO:0042473)	3.71113710
14	urinary tract smooth muscle contraction (GO:0014848)	3.68247693
15	outflow tract septum morphogenesis (GO:0003148)	3.59141714
16	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.57206530
17	ribosomal small subunit biogenesis (GO:0042274)	3.46165952
18	barbed-end actin filament capping (GO:0051016)	3.44132219
19	mesenchyme morphogenesis (GO:0072132)	3.43765098
20	cardiac myofibril assembly (GO:0055003)	3.32281486
21	viral transcription (GO:0019083)	3.28290909
22	histone H3-K36 demethylation (GO:0070544)	3.24127899
23	response to inactivity (GO:0014854)	3.22878768
24	modified amino acid transport (GO:0072337)	3.20406042
25	tooth mineralization (GO:0034505)	3.20030178
26	paraxial mesoderm development (GO:0048339)	3.19536897
27	nucleotide-sugar biosynthetic process (GO:0009226)	3.19032335
28	planar cell polarity pathway involved in neural tube closure (GO:0090179)	3.14145252
29	positive regulation of myoblast differentiation (GO:0045663)	3.02642164
30	endoderm formation (GO:0001706)	2.98558372
31	negative regulation of amyloid precursor protein catabolic process (GO:1902992)	2.97962152
32	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.95387906
33	actin-myosin filament sliding (GO:0033275)	2.95248323
34	muscle filament sliding (GO:0030049)	2.95248323
35	positive regulation of transcription regulatory region DNA binding (GO:2000679)	2.92967998
36	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	2.92056748
37	sarcomere organization (GO:0045214)	2.91270770
38	positive regulation of fatty acid beta-oxidation (GO:0032000)	2.90443133
39	cardiac chamber formation (GO:0003207)	2.89569396
40	reproduction (GO:0000003)	2.88854711
41	atrial septum morphogenesis (GO:0060413)	2.87546989
42	myofibril assembly (GO:0030239)	2.86942972
43	cardiac muscle tissue morphogenesis (GO:0055008)	2.85470745
44	bundle of His cell to Purkinje myocyte communication (GO:0086069)	2.84183055
45	translational termination (GO:0006415)	2.83374612
46	establishment of apical/basal cell polarity (GO:0035089)	2.81962018
47	regulation of mitochondrial membrane potential (GO:0051881)	2.81956212
48	negative regulation of skeletal muscle tissue development (GO:0048642)	2.80961186
49	regulation of cardioblast differentiation (GO:0051890)	2.80486306
50	positive regulation of myotube differentiation (GO:0010831)	2.78464166
51	extracellular matrix assembly (GO:0085029)	2.76339733
52	phosphatidylglycerol biosynthetic process (GO:0006655)	2.76114054
53	ventricular cardiac muscle tissue morphogenesis (GO:0055010)	2.75222734
54	keratan sulfate catabolic process (GO:0042340)	2.75147741
55	positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	2.74268411
56	cofactor transport (GO:0051181)	2.73759332
57	venous blood vessel morphogenesis (GO:0048845)	2.72484940
58	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	2.72031148
59	bone trabecula formation (GO:0060346)	2.67268991
60	cardiac muscle contraction (GO:0060048)	2.67268159
61	response to misfolded protein (GO:0051788)	2.65247255
62	neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)	2.63733928
63	translational elongation (GO:0006414)	2.61523334
64	negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	2.60984613
65	establishment of monopolar cell polarity (GO:0061162)	2.60636122
66	establishment or maintenance of monopolar cell polarity (GO:0061339)	2.60636122
67	protein heterotrimerization (GO:0070208)	2.59042341
68	muscle tissue morphogenesis (GO:0060415)	2.58078722
69	muscle hypertrophy (GO:0014896)	2.55324237
70	muscle cell fate commitment (GO:0042693)	2.53327352
71	growth hormone secretion (GO:0030252)	2.52171099
72	regulation of receptor binding (GO:1900120)	2.50336416
73	collagen fibril organization (GO:0030199)	2.48787310
74	actin-mediated cell contraction (GO:0070252)	2.47640412
75	cranial suture morphogenesis (GO:0060363)	2.46798455
76	cellular response to estradiol stimulus (GO:0071392)	2.44485070
77	cell communication by electrical coupling (GO:0010644)	2.42849035
78	cardiac ventricle formation (GO:0003211)	2.42143069
79	viral protein processing (GO:0019082)	2.41163789
80	cardiac muscle tissue development (GO:0048738)	2.39406793
81	cardiac muscle hypertrophy (GO:0003300)	2.38633884
82	regulation of protein kinase C signaling (GO:0090036)	2.36751393
83	lung morphogenesis (GO:0060425)	2.35756816
84	response to muscle activity (GO:0014850)	2.35512090
85	striated muscle atrophy (GO:0014891)	2.32657724
86	heart valve morphogenesis (GO:0003179)	2.30709230
87	peroxisome fission (GO:0016559)	2.28952743
88	negative regulation of erythrocyte differentiation (GO:0045647)	2.28698768
89	basement membrane organization (GO:0071711)	2.27556042
90	actomyosin structure organization (GO:0031032)	2.27128151
91	trabecula formation (GO:0060343)	2.26320638
92	coenzyme A biosynthetic process (GO:0015937)	2.25359333
93	striated muscle hypertrophy (GO:0014897)	2.25290223
94	viral life cycle (GO:0019058)	2.24872132
95	cartilage condensation (GO:0001502)	2.24385730
96	cell aggregation (GO:0098743)	2.24385730
97	apoptotic process involved in morphogenesis (GO:0060561)	2.23339725
98	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	2.21582627
99	branching involved in salivary gland morphogenesis (GO:0060445)	2.20410269
100	mannose metabolic process (GO:0006013)	10.8341204

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RARG_19884340_ChIP-ChIP_MEFs_Mouse	3.83027805
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.82717340
3	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.00089279
4	LXR_22292898_ChIP-Seq_THP-1_Human	2.78149622
5	ERG_21242973_ChIP-ChIP_JURKAT_Human	2.67905656
6	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.65138188
7	VDR_21846776_ChIP-Seq_THP-1_Human	2.55976177
8	KDM2B_26808549_Chip-Seq_SUP-B15_Human	2.52993729
9	ELK3_25401928_ChIP-Seq_HUVEC_Human	2.52915423
10	SRY_22984422_ChIP-ChIP_TESTIS_Rat	2.35215362
11	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.34436039
12	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.11619652
13	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.11101350
14	CTCF_27219007_Chip-Seq_Bcells_Human	2.07192894
15	RACK7_27058665_Chip-Seq_MCF-7_Human	2.01360677
16	* KDM2B_26808549_Chip-Seq_DND41_Human	1.98187415
17	* KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.98101160
18	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.89811481
19	* CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.86938734
20	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.86714323
21	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.84033841
22	KDM2B_26808549_Chip-Seq_K562_Human	1.81175878
23	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.79398123
24	P68_20966046_ChIP-Seq_HELA_Human	1.73516238
25	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.71754845
26	VDR_24763502_ChIP-Seq_THP-1_Human	1.70914635
27	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.67053909
28	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.67010082
29	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.66143945
30	* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.62934878
31	TP63_17297297_ChIP-ChIP_HaCaT_Human	1.62718217
32	TCF7_22412390_ChIP-Seq_EML_Mouse	1.55238779
33	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.54689508
34	* KDM2B_26808549_Chip-Seq_JURKAT_Human	1.54038013
35	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.53054476
36	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.52197403
37	SMC4_20622854_ChIP-Seq_HELA_Human	1.51629231
38	EZH2_22144423_ChIP-Seq_EOC_Human	1.51114676
39	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.50805146
40	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.50805146
41	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.50805146
42	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.50653775
43	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.47490452
44	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.42196171
45	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.40313866
46	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.38833211
47	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.37523797
48	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.35489619
49	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.35342195
50	* KDM2B_26808549_Chip-Seq_HPB-ALL_Human	1.34086633
51	* UTX_26944678_Chip-Seq_JUKART_Human	1.34071024
52	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.34032186
53	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.34032186
54	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.33658202
55	* MAF_26560356_Chip-Seq_TH2_Human	1.33329971
56	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.33305397
57	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.32642852
58	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.31768199
59	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.31338816
60	* SA1_27219007_Chip-Seq_Bcells_Human	1.30160393
61	* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.28270003
62	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.27486163
63	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.26620693
64	SMC1_22415368_ChIP-Seq_MEFs_Mouse	1.26562449
65	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.26444107
66	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.26042695
67	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.24481273
68	CTCF_21964334_Chip-Seq_Bcells_Human	1.22538262
69	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.21684807
70	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.21467615
71	* MYC_22102868_ChIP-Seq_BL_Human	1.20038670
72	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.18752731
73	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.17782744
74	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.17576220
75	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	1.17092916
76	BCL6_27268052_Chip-Seq_Bcells_Human	1.16146445
77	CREB1_26743006_Chip-Seq_LNCaP_Human	1.16095696
78	* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	1.15623817
79	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.15024727
80	* MAF_26560356_Chip-Seq_TH1_Human	1.14931124
81	E2F1_20622854_ChIP-Seq_HELA_Human	1.14718540
82	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.14651642
83	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.14195240
84	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.11762680
85	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.10018978
86	ZFP281_27345836_Chip-Seq_ESCs_Mouse	1.09812790
87	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.08582259
88	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.07968323
89	P300_27058665_Chip-Seq_ZR-75-30cells_Human	1.06370930
90	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.03945400
91	OCT4_19829295_ChIP-Seq_ESCs_Human	1.03652377
92	PHF8_20622854_ChIP-Seq_HELA_Human	1.03581406
93	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.01949323
94	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.01705970
95	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.01522887
96	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.00932524
97	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.00818119
98	TP63_22573176_ChIP-Seq_HFKS_Human	0.99819727
99	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	0.99374229
100	DROSHA_22980978_ChIP-Seq_HELA_Human	0.98951817

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	6.07348746
2	MP0005503_abnormal_tendon_morphology	4.81710616
3	MP0005275_abnormal_skin_tensile	4.69890245
4	MP0000751_myopathy	3.78587832
5	MP0002638_abnormal_pupillary_reflex	2.99160565
6	MP0001958_emphysema	2.97591484
7	MP0003279_aneurysm	2.94664325
8	MP0009384_cardiac_valve_regurgitation	2.33999622
9	MP0008260_abnormal_autophagy	2.24599058
10	MP0010030_abnormal_orbit_morphology	2.23876308
11	MP0005409_darkened_coat_color	2.18988128
12	MP0004858_abnormal_nervous_system	2.11666452
13	MP0009379_abnormal_foot_pigmentation	2.09226838
14	MP0003705_abnormal_hypodermis_morpholog	2.01461194
15	MP0000767_abnormal_smooth_muscle	1.86256643
16	MP0001542_abnormal_bone_strength	1.83853241
17	MP0001986_abnormal_taste_sensitivity	1.81187854
18	MP0004084_abnormal_cardiac_muscle	1.78543267
19	MP0002933_joint_inflammation	1.78135659
20	MP0002837_dystrophic_cardiac_calcinosis	1.76493139
21	MP0003436_decreased_susceptibility_to	1.73549115
22	MP0003646_muscle_fatigue	1.71009887
23	MP0006082_CNS_inflammation	1.69673882
24	MP0002108_abnormal_muscle_morphology	1.61559085
25	MP0005330_cardiomyopathy	1.61126908
26	MP0006138_congestive_heart_failure	1.60168465
27	MP0004272_abnormal_basement_membrane	1.59883174
28	MP0002249_abnormal_larynx_morphology	1.55847253
29	MP0000750_abnormal_muscle_regeneration	1.55147199
30	MP0002127_abnormal_cardiovascular_syste	1.49637620
31	MP0004087_abnormal_muscle_fiber	1.48728332
32	MP0004130_abnormal_muscle_cell	1.34289427
33	MP0003137_abnormal_impulse_conducting	1.34078462
34	MP0002972_abnormal_cardiac_muscle	1.29766924
35	MP0005508_abnormal_skeleton_morphology	1.29596959
36	MP0002106_abnormal_muscle_physiology	1.28375438
37	MP0010630_abnormal_cardiac_muscle	1.26061441
38	MP0005369_muscle_phenotype	1.22216671
39	MP0005257_abnormal_intraocular_pressure	1.21345400
40	MP0000759_abnormal_skeletal_muscle	1.19885528
41	MP0001544_abnormal_cardiovascular_syste	1.19134815
42	MP0005385_cardiovascular_system_phenoty	1.19134815
43	MP0002254_reproductive_system_inflammat	1.17898391
44	MP0010368_abnormal_lymphatic_system	1.17054184
45	MP0002295_abnormal_pulmonary_circulatio	1.16655146
46	MP0004036_abnormal_muscle_relaxation	1.15148672
47	MP0000733_abnormal_muscle_development	1.14577169
48	MP0005390_skeleton_phenotype	1.14147829
49	MP0004133_heterotaxia	1.11858461
50	MP0003283_abnormal_digestive_organ	1.11046625
51	MP0002932_abnormal_joint_morphology	1.07504611
52	MP0003091_abnormal_cell_migration	1.06180311
53	MP0004510_myositis	1.05853724
54	MP0005076_abnormal_cell_differentiation	1.04559129
55	MP0000049_abnormal_middle_ear	1.04249052
56	MP0009250_abnormal_appendicular_skeleto	1.03819379
57	MP0008775_abnormal_heart_ventricle	1.02685999
58	MP0005620_abnormal_muscle_contractility	1.00199251
59	MP0005671_abnormal_response_to	1.00173373
60	MP0001849_ear_inflammation	0.99482628
61	MP0005023_abnormal_wound_healing	0.98742442
62	MP0003566_abnormal_cell_adhesion	0.98378995
63	MP0003942_abnormal_urinary_system	0.97473830
64	MP0003828_pulmonary_edema	0.97395460
65	MP0005083_abnormal_biliary_tract	0.96739295
66	MP0002060_abnormal_skin_morphology	0.96340481
67	MP0000747_muscle_weakness	0.95264896
68	MP0001533_abnormal_skeleton_physiology	0.93215752
69	MP0000343_altered_response_to	0.90362990
70	MP0003724_increased_susceptibility_to	0.88889457
71	MP0000678_abnormal_parathyroid_gland	0.88187598
72	MP0003567_abnormal_fetal_cardiomyocyte	0.87953565
73	MP0002998_abnormal_bone_remodeling	0.85147967
74	MP0004185_abnormal_adipocyte_glucose	0.84409467
75	MP0003122_maternal_imprinting	0.84061512
76	MP0002128_abnormal_blood_circulation	0.79586752
77	MP0001348_abnormal_lacrimal_gland	0.78287554
78	MP0002971_abnormal_brown_adipose	0.76760371
79	MP0009333_abnormal_splenocyte_physiolog	0.76640293
80	MP0005623_abnormal_meninges_morphology	0.76584998
81	MP0001727_abnormal_embryo_implantation	0.76469621
82	MP0005377_hearing/vestibular/ear_phenot	0.75494530
83	MP0003878_abnormal_ear_physiology	0.75494530
84	MP0002163_abnormal_gland_morphology	0.75016602
85	MP0005387_immune_system_phenotype	0.74649557
86	MP0001790_abnormal_immune_system	0.74649557
87	MP0003123_paternal_imprinting	0.71045995
88	MP0005670_abnormal_white_adipose	0.70246407
89	MP0008004_abnormal_stomach_pH	0.66291490
90	MP0004215_abnormal_myocardial_fiber	0.65874007
91	MP0000266_abnormal_heart_morphology	0.64714414
92	MP0001614_abnormal_blood_vessel	0.64609919
93	MP0004145_abnormal_muscle_electrophysio	0.63729095
94	MP0003879_abnormal_hair_cell	0.62823614
95	MP0005595_abnormal_vascular_smooth	0.61276705
96	MP0001851_eye_inflammation	0.60488904
97	MP0004085_abnormal_heartbeat	0.60422867
98	MP0003300_gastrointestinal_ulcer	0.59943530
99	MP0003115_abnormal_respiratory_system	0.59747128
100	MP0001175_abnormal_lung_morphology	0.57325408

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Patent foramen ovale (HP:0001655)	5.42967459
2	Global brain atrophy (HP:0002283)	5.03195121
3	Premature rupture of membranes (HP:0001788)	4.14319273
4	Shallow orbits (HP:0000586)	4.10533126
5	Peritonitis (HP:0002586)	3.85476079
6	Ventricular tachycardia (HP:0004756)	3.70912007
7	Turricephaly (HP:0000262)	3.53824269
8	Protrusio acetabuli (HP:0003179)	3.49675721
9	Ulnar deviation of the wrist (HP:0003049)	3.43043610
10	Aortic dissection (HP:0002647)	3.38550366
11	Dilatation of the ascending aorta (HP:0005111)	3.34978330
12	Thin bony cortex (HP:0002753)	3.28962686
13	Broad metatarsal (HP:0001783)	3.25356993
14	Akinesia (HP:0002304)	3.24508969
15	Partial duplication of the phalanx of hand (HP:0009999)	3.10257231
16	Round ear (HP:0100830)	3.07718923
17	Soft skin (HP:0000977)	3.07011111
18	Fragile skin (HP:0001030)	3.06463668
19	Delayed epiphyseal ossification (HP:0002663)	3.03817488
20	Mitral valve prolapse (HP:0001634)	2.98947055
21	Genu recurvatum (HP:0002816)	2.98047917
22	Muscle fiber splitting (HP:0003555)	2.93587168
23	Aortic aneurysm (HP:0004942)	2.92886639
24	Bladder diverticulum (HP:0000015)	2.88298939
25	Neurodegeneration (HP:0002180)	2.84625723
26	Cerebral aneurysm (HP:0004944)	2.82152613
27	Atrophic scars (HP:0001075)	2.79269469
28	Acanthocytosis (HP:0001927)	2.78597928
29	Broad distal phalanx of finger (HP:0009836)	2.74171261
30	Coronal craniosynostosis (HP:0004440)	2.71661513
31	Right ventricular cardiomyopathy (HP:0011663)	2.69426896
32	Joint stiffness (HP:0001387)	2.68611575
33	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.60002382
34	EMG: neuropathic changes (HP:0003445)	2.57720601
35	Type 1 muscle fiber predominance (HP:0003803)	2.55308688
36	Congenital glaucoma (HP:0001087)	2.51775331
37	Increased variability in muscle fiber diameter (HP:0003557)	2.46973801
38	Hypobetalipoproteinemia (HP:0003563)	2.45505562
39	Increased connective tissue (HP:0009025)	2.44231744
40	Pulmonary artery stenosis (HP:0004415)	2.42956825
41	Atrial fibrillation (HP:0005110)	2.37371206
42	Sudden death (HP:0001699)	2.35209829
43	Eczematoid dermatitis (HP:0000976)	2.34395512
44	Blue sclerae (HP:0000592)	2.32439531
45	Ectopia lentis (HP:0001083)	2.32360711
46	Hyperextensible skin (HP:0000974)	2.27616902
47	Joint laxity (HP:0001388)	2.25098078
48	Bicuspid aortic valve (HP:0001647)	2.20698251
49	Thin ribs (HP:0000883)	2.17493196
50	Decreased muscle mass (HP:0003199)	2.17180286
51	Asymmetric septal hypertrophy (HP:0001670)	2.14747868
52	Striae distensae (HP:0001065)	2.13162943
53	Hemiplegia (HP:0002301)	2.11746171
54	Dysphonia (HP:0001618)	2.10041231
55	Broad ribs (HP:0000885)	2.08818792
56	Abnormality of the 2nd finger (HP:0004100)	2.08134315
57	Emphysema (HP:0002097)	2.06882801
58	Small epiphyses (HP:0010585)	2.04922334
59	Annular pancreas (HP:0001734)	2.03669732
60	Primary atrial arrhythmia (HP:0001692)	2.03226855
61	Buphthalmos (HP:0000557)	2.02855132
62	Cervical subluxation (HP:0003308)	2.02634696
63	Biconcave vertebral bodies (HP:0004586)	2.00232549
64	Infantile muscular hypotonia (HP:0008947)	1.97373327
65	Supraventricular tachycardia (HP:0004755)	1.96812612
66	Supraventricular arrhythmia (HP:0005115)	1.96699752
67	Abnormality of skeletal muscle fiber size (HP:0012084)	1.95358639
68	Lipoatrophy (HP:0100578)	1.93549442
69	Abnormality of the parietal bone (HP:0002696)	1.90582191
70	Distal lower limb muscle weakness (HP:0009053)	1.88430735
71	Disproportionate tall stature (HP:0001519)	1.85792931
72	Hyporeflexia of lower limbs (HP:0002600)	1.85337210
73	Mitral regurgitation (HP:0001653)	1.84638832
74	Epiphyseal dysplasia (HP:0002656)	1.84134157
75	Neonatal short-limb short stature (HP:0008921)	1.82938468
76	Ulnar bowing (HP:0003031)	1.80728895
77	Abnormality of the phalanges of the hallux (HP:0010057)	1.79083668
78	Bradycardia (HP:0001662)	1.78632189
79	Limited hip movement (HP:0008800)	1.78614415
80	Hypoventilation (HP:0002791)	1.78314660
81	Rectal prolapse (HP:0002035)	1.77054265
82	Hypercortisolism (HP:0001578)	1.74781607
83	Bronchomalacia (HP:0002780)	1.74038874
84	Craniofacial dystonia (HP:0012179)	1.73895820
85	Delayed cranial suture closure (HP:0000270)	1.73793408
86	Mild short stature (HP:0003502)	1.71896279
87	Abnormality of the right ventricle (HP:0001707)	1.71480170
88	Wide anterior fontanel (HP:0000260)	1.71360870
89	Rapidly progressive (HP:0003678)	1.71117578
90	Aneurysm (HP:0002617)	1.70277021
91	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.68086231
92	Diminished movement (HP:0002374)	1.66833211
93	Overgrowth (HP:0001548)	1.66776565
94	Neurofibrillary tangles (HP:0002185)	1.66392458
95	Osteoarthritis (HP:0002758)	1.65161516
96	Focal dystonia (HP:0004373)	1.61823018
97	Mildly elevated creatine phosphokinase (HP:0008180)	1.61223415
98	Abnormal atrioventricular conduction (HP:0005150)	1.61087285
99	Myositis (HP:0100614)	1.60843197
100	Broad long bones (HP:0005622)	1.60639717

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	ERN1	5.15434229
2	MAP2K3	2.92566403
3	MYLK	2.65214275
4	TTN	2.59593666
5	MAP3K6	2.54916137
6	TRIB3	2.44248749
7	PRKD2	2.29350128
8	MAP4K1	1.92603852
9	RIPK1	1.90905173
10	MAP2K6	1.75559169
11	EPHB1	1.68019165
12	PRPF4B	1.67467781
13	MARK2	1.61137241
14	STK38	1.57285313
15	ZAP70	1.55895400
16	SIK1	1.55687619
17	MAP3K11	1.55344728
18	CDC42BPA	1.52175922
19	ICK	1.43038223
20	RPS6KC1	1.41525865
21	RPS6KL1	1.41525865
22	EPHB2	1.40639451
23	ARAF	1.36867122
24	RPS6KA2	1.31364322
25	TAOK1	1.27571161
26	RIPK4	1.27263555
27	TIE1	1.26556915
28	MAP3K10	1.24092742
29	RPS6KA6	1.21420743
30	CSK	1.20394776
31	FGFR4	1.15798942
32	PKN2	1.12166221
33	DMPK	1.06115219
34	PRKD1	1.04073195
35	LCK	0.99701334
36	PDPK1	0.97774681
37	BLK	0.95898922
38	TNK2	0.95297809
39	PRKCH	0.94102246
40	GRK6	0.93802801
41	TGFBR2	0.92854076
42	DYRK1B	0.92198005
43	AKT2	0.90458899
44	MAP2K4	0.89248298
45	DAPK3	0.88244848
46	PDK2	0.86651782
47	BTK	0.84978931
48	BRAF	0.84924135
49	MAPK15	0.84358103
50	LRRK2	0.84352858
51	MAP3K3	0.83661858
52	PDGFRA	0.83548291
53	PTK2	0.81673792
54	EPHA2	0.80789054
55	MAP3K7	0.78844318
56	DDR2	0.77477635
57	PDK1	0.77363847
58	FES	0.76916468
59	PDGFRB	0.76773823
60	TYRO3	0.76076570
61	PTK6	0.75488013
62	ROCK1	0.74456915
63	BMX	0.72611751
64	MAPK12	0.72247485
65	WNK1	0.71802982
66	TBK1	0.69657518
67	MAP3K1	0.69373954
68	FGFR2	0.67875846
69	CDK4	0.67422527
70	MAPK7	0.64352773
71	SMG1	0.62781156
72	MAP3K13	0.61036855
73	RET	0.58467490
74	ABL2	0.58211061
75	KDR	0.58182541
76	ROCK2	0.57831325
77	SGK494	0.57566963
78	SGK223	0.57566963
79	PKN1	0.55523598
80	RPS6KA1	0.54686536
81	ITK	0.53522363
82	MTOR	0.52452484
83	GRK7	0.52439731
84	TESK1	0.52318934
85	TESK2	0.51650619
86	STK24	0.49824426
87	JAK1	0.49608350
88	MAP2K2	0.49450834
89	PASK	0.47521844
90	FYN	0.46223407
91	JAK3	0.46162494
92	STK4	0.45909468
93	MUSK	0.45593218
94	EEF2K	0.45291426
95	LATS2	0.44409112
96	NME2	0.44018602
97	MAPK4	0.43182259
98	INSR	0.42920470
99	PIM2	0.41079031
100	ADRBK1	0.40023933

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.78688485
2	Ribosome_Homo sapiens_hsa03010	2.56368052
3	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.45719150
4	ECM-receptor interaction_Homo sapiens_hsa04512	2.34898104
5	Notch signaling pathway_Homo sapiens_hsa04330	2.23830799
6	Fructose and mannose metabolism_Homo sapiens_hsa00051	2.23295586
7	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.91856544
8	Malaria_Homo sapiens_hsa05144	1.91532611
9	Protein digestion and absorption_Homo sapiens_hsa04974	1.81910987
10	Focal adhesion_Homo sapiens_hsa04510	1.69732595
11	Cardiac muscle contraction_Homo sapiens_hsa04260	1.60011280
12	Amoebiasis_Homo sapiens_hsa05146	1.59533879
13	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.54714413
14	Basal cell carcinoma_Homo sapiens_hsa05217	1.52172227
15	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.50849589
16	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.45907775
17	VEGF signaling pathway_Homo sapiens_hsa04370	1.43157893
18	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.36750025
19	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.35959712
20	Leukocyte transendothelial migration_Homo sapiens_hsa04670	1.31755490
21	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.30387358
22	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.29333086
23	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.27975749
24	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	1.26710050
25	Prion diseases_Homo sapiens_hsa05020	1.21331343
26	Rap1 signaling pathway_Homo sapiens_hsa04015	1.18997123
27	Osteoclast differentiation_Homo sapiens_hsa04380	1.17696236
28	Other glycan degradation_Homo sapiens_hsa00511	1.15269300
29	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.13241830
30	Proteoglycans in cancer_Homo sapiens_hsa05205	1.10751013
31	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.10676321
32	Viral myocarditis_Homo sapiens_hsa05416	1.06789487
33	Phospholipase D signaling pathway_Homo sapiens_hsa04072	1.02345124
34	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.02259582
35	Melanogenesis_Homo sapiens_hsa04916	1.02086631
36	Sulfur metabolism_Homo sapiens_hsa00920	1.02071388
37	Graft-versus-host disease_Homo sapiens_hsa05332	1.01170511
38	Axon guidance_Homo sapiens_hsa04360	0.99060028
39	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.96420016
40	GnRH signaling pathway_Homo sapiens_hsa04912	0.94988014
41	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.94086035
42	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.92271942
43	Sulfur relay system_Homo sapiens_hsa04122	0.91959040
44	Tight junction_Homo sapiens_hsa04530	0.91594437
45	Leishmaniasis_Homo sapiens_hsa05140	0.90174620
46	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.87393128
47	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.87161858
48	MAPK signaling pathway_Homo sapiens_hsa04010	0.84790070
49	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.84060278
50	Regulation of autophagy_Homo sapiens_hsa04140	0.83906255
51	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.83762399
52	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.83172524
53	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.83015913
54	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.81092905
55	Ras signaling pathway_Homo sapiens_hsa04014	0.79522423
56	Platelet activation_Homo sapiens_hsa04611	0.78392010
57	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.77511474
58	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.77179927
59	Salmonella infection_Homo sapiens_hsa05132	0.77140605
60	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	0.75827689
61	Gap junction_Homo sapiens_hsa04540	0.74441873
62	HTLV-I infection_Homo sapiens_hsa05166	0.73947303
63	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.72720471
64	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.72621818
65	Chemokine signaling pathway_Homo sapiens_hsa04062	0.70935039
66	Melanoma_Homo sapiens_hsa05218	0.70569264
67	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.69457909
68	Renin secretion_Homo sapiens_hsa04924	0.68699575
69	Pathways in cancer_Homo sapiens_hsa05200	0.68374947
70	Toxoplasmosis_Homo sapiens_hsa05145	0.67732231
71	Complement and coagulation cascades_Homo sapiens_hsa04610	0.66881083
72	Pertussis_Homo sapiens_hsa05133	0.66330782
73	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.65456886
74	Insulin signaling pathway_Homo sapiens_hsa04910	0.64698238
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.62097830
76	Allograft rejection_Homo sapiens_hsa05330	0.60441989
77	Acute myeloid leukemia_Homo sapiens_hsa05221	0.58363363
78	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.58141329
79	cAMP signaling pathway_Homo sapiens_hsa04024	0.57983243
80	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.57102771
81	Prolactin signaling pathway_Homo sapiens_hsa04917	0.57092138
82	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.56217407
83	Endocytosis_Homo sapiens_hsa04144	0.54952435
84	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.52625875
85	Insulin resistance_Homo sapiens_hsa04931	0.52376145
86	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.51808338
87	Shigellosis_Homo sapiens_hsa05131	0.50890267
88	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.50526079
89	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.50265937
90	Linoleic acid metabolism_Homo sapiens_hsa00591	0.50099349
91	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.49547644
92	TNF signaling pathway_Homo sapiens_hsa04668	0.49041701
93	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.48733321
94	Wnt signaling pathway_Homo sapiens_hsa04310	0.48619005
95	Hepatitis C_Homo sapiens_hsa05160	0.48124715
96	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.47572562
97	Bladder cancer_Homo sapiens_hsa05219	0.47496470
98	Hippo signaling pathway_Homo sapiens_hsa04390	0.46913847
99	Calcium signaling pathway_Homo sapiens_hsa04020	0.46699127
100	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.46245325

MMP23B

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

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