ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of protein kinase C signaling (GO:0090037)	6.20632983
2	regulation of somitogenesis (GO:0014807)	5.60976368
3	lymphangiogenesis (GO:0001946)	5.11014561
4	pericardium development (GO:0060039)	4.84311453
5	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.84309199
6	DNA integration (GO:0015074)	4.58583908
7	response to pheromone (GO:0019236)	4.31651942
8	positive regulation of astrocyte differentiation (GO:0048711)	3.98625796
9	fusion of sperm to egg plasma membrane (GO:0007342)	3.94424792
10	positive regulation of male gonad development (GO:2000020)	3.91327777
11	lymph vessel development (GO:0001945)	3.91127311
12	postsynaptic membrane organization (GO:0001941)	3.85402652
13	righting reflex (GO:0060013)	3.83716668
14	negative regulation of neurotransmitter transport (GO:0051589)	3.79901322
15	negative regulation of neurotransmitter secretion (GO:0046929)	3.74756983
16	positive regulation of synaptic transmission, GABAergic (GO:0032230)	3.63371466
17	otic vesicle formation (GO:0030916)	3.63249621
18	presynaptic membrane assembly (GO:0097105)	3.61869110
19	startle response (GO:0001964)	3.51707259
20	stem cell development (GO:0048864)	3.49582140
21	multicellular organism reproduction (GO:0032504)	3.44666682
22	response to UV-C (GO:0010225)	3.41484692
23	artery development (GO:0060840)	3.41267622
24	cytoplasmic mRNA processing body assembly (GO:0033962)	3.39042994
25	positive regulation of dendritic spine development (GO:0060999)	3.32371277
26	lung lobe morphogenesis (GO:0060463)	3.30753501
27	protein localization to synapse (GO:0035418)	3.30130072
28	plasma membrane fusion (GO:0045026)	3.29890185
29	kidney morphogenesis (GO:0060993)	3.28841627
30	cardiac septum development (GO:0003279)	3.28321708
31	negative regulation of DNA repair (GO:0045738)	3.28238870
32	presynaptic membrane organization (GO:0097090)	3.26287624
33	regulation of phospholipase A2 activity (GO:0032429)	3.22488695
34	regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)	3.15981082
35	sulfation (GO:0051923)	3.14245265
36	maternal behavior (GO:0042711)	3.11534734
37	regulation of non-canonical Wnt signaling pathway (GO:2000050)	3.10224198
38	regulation of male gonad development (GO:2000018)	3.08919101
39	neurotransmitter-gated ion channel clustering (GO:0072578)	3.08652165
40	growth hormone receptor signaling pathway (GO:0060396)	3.07460808
41	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	3.04362815
42	regulation of DNA damage checkpoint (GO:2000001)	3.04260496
43	cAMP biosynthetic process (GO:0006171)	2.98169965
44	positive regulation of neurotransmitter secretion (GO:0001956)	2.91153781
45	negative regulation of necroptotic process (GO:0060546)	2.87834955
46	parental behavior (GO:0060746)	2.85574319
47	regulation of protein kinase C signaling (GO:0090036)	2.84134390
48	branching involved in prostate gland morphogenesis (GO:0060442)	2.80927725
49	activation of protein kinase A activity (GO:0034199)	2.79412108
50	positive regulation of dendrite development (GO:1900006)	2.79098149
51	sprouting angiogenesis (GO:0002040)	2.75703756
52	coronary vasculature morphogenesis (GO:0060977)	2.75158165
53	venous blood vessel morphogenesis (GO:0048845)	2.73681258
54	renal tubule morphogenesis (GO:0061333)	2.73629369
55	centriole replication (GO:0007099)	2.72687053
56	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.72191025
57	organ growth (GO:0035265)	2.67649576
58	blood vessel morphogenesis (GO:0048514)	2.66834635
59	cellular response to growth hormone stimulus (GO:0071378)	2.65927170
60	regulation of cardioblast proliferation (GO:0003264)	2.65744520
61	regulation of secondary heart field cardioblast proliferation (GO:0003266)	2.65744520
62	positive regulation of muscle hypertrophy (GO:0014742)	2.61163125
63	positive regulation of cardiac muscle hypertrophy (GO:0010613)	2.61163125
64	limb bud formation (GO:0060174)	2.60718766
65	glycoprotein catabolic process (GO:0006516)	2.59113368
66	establishment of nucleus localization (GO:0040023)	2.56705927
67	neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)	2.55218121
68	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	2.53609233
69	mesenchyme morphogenesis (GO:0072132)	2.53302691
70	kidney mesenchyme development (GO:0072074)	2.52048565
71	negative regulation by host of viral transcription (GO:0043922)	2.51669365
72	embryonic foregut morphogenesis (GO:0048617)	2.50200170
73	cardiac muscle cell proliferation (GO:0060038)	2.50105491
74	negative regulation of oligodendrocyte differentiation (GO:0048715)	2.49899988
75	regulation of respiratory system process (GO:0044065)	2.46916467
76	vocalization behavior (GO:0071625)	2.46686321
77	radial glial cell differentiation (GO:0060019)	2.45887473
78	negative regulation of smooth muscle cell differentiation (GO:0051151)	2.45584480
79	regulation of organ formation (GO:0003156)	2.44484458
80	branch elongation of an epithelium (GO:0060602)	2.44043457
81	axis elongation (GO:0003401)	2.43850580
82	dendritic spine morphogenesis (GO:0060997)	2.43367155
83	prostate gland growth (GO:0060736)	2.43157024
84	protein K11-linked deubiquitination (GO:0035871)	2.42139677
85	protein targeting to Golgi (GO:0000042)	2.41565493
86	histone mRNA catabolic process (GO:0071044)	2.40171489
87	somatic stem cell division (GO:0048103)	2.39604338
88	vascular endothelial growth factor signaling pathway (GO:0038084)	2.39304853
89	nephron tubule morphogenesis (GO:0072078)	2.39289112
90	nephron epithelium morphogenesis (GO:0072088)	2.39289112
91	lung vasculature development (GO:0060426)	2.38754132
92	neural crest cell development (GO:0014032)	2.38239411
93	reproduction (GO:0000003)	2.37782109
94	epithelial cilium movement (GO:0003351)	2.37065173
95	protein prenylation (GO:0018342)	2.36962071
96	prenylation (GO:0097354)	2.36962071
97	response to caffeine (GO:0031000)	2.36509107
98	negative regulation of vascular permeability (GO:0043116)	2.36480293
99	prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052	2.35959571
100	positive regulation of potassium ion transmembrane transporter activity (GO:1901018)	2.34797590

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA1_22025678_ChIP-Seq_K562_Human	5.34182893
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.26532079
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.55121492
4	STAT6_21828071_ChIP-Seq_BEAS2B_Human	3.21085529
5	AR_21572438_ChIP-Seq_LNCaP_Human	2.81549160
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.64579539
7	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.55570637
8	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.46806490
9	FUS_26573619_Chip-Seq_HEK293_Human	2.42460112
10	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.24674366
11	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.16769513
12	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.11521391
13	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	2.11521391
14	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	2.05340903
15	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	2.04171234
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.00736235
17	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.99942913
18	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.98264524
19	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.96179081
20	EWS_26573619_Chip-Seq_HEK293_Human	1.89667403
21	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.88424127
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.88417861
23	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.87924157
24	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.85106900
25	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.84367106
26	VDR_22108803_ChIP-Seq_LS180_Human	1.84132725
27	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.74159772
28	TP53_16413492_ChIP-PET_HCT116_Human	1.73448423
29	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.72709175
30	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.72700684
31	P300_19829295_ChIP-Seq_ESCs_Human	1.72458957
32	RNF2_27304074_Chip-Seq_NSC_Mouse	1.72186063
33	ZNF274_21170338_ChIP-Seq_K562_Hela	1.71870969
34	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.67235120
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.62505324
36	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.61566913
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.59771318
38	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.58973087
39	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.58973087
40	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.57685685
41	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.53699414
42	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.52851187
43	STAT3_23295773_ChIP-Seq_U87_Human	1.52038632
44	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.51161834
45	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.50349729
46	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.47191958
47	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.47126320
48	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.45166364
49	TAF15_26573619_Chip-Seq_HEK293_Human	1.43264083
50	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.42299352
51	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.40218026
52	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.40170673
53	TCF4_23295773_ChIP-Seq_U87_Human	1.37641799
54	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.34489201
55	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.34008842
56	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.34008842
57	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.33487574
58	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.32431308
59	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.29378746
60	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.27787223
61	RXR_22108803_ChIP-Seq_LS180_Human	1.26967471
62	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.26909969
63	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.26294290
64	KDM2B_26808549_Chip-Seq_REH_Human	1.25454103
65	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.24955066
66	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.22949060
67	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.22866742
68	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.20873421
69	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.20790786
70	CBP_20019798_ChIP-Seq_JUKART_Human	1.20790786
71	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.20245700
72	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.19608484
73	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.18580615
74	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16416758
75	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.15066923
76	CJUN_26792858_Chip-Seq_BT549_Human	1.14783467
77	LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.12831238
78	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.12765700
79	BCAT_22108803_ChIP-Seq_LS180_Human	1.12324894
80	ER_23166858_ChIP-Seq_MCF-7_Human	1.11725145
81	GF1B_26923725_Chip-Seq_HPCs_Mouse	1.11619986
82	TP53_18474530_ChIP-ChIP_U2OS_Human	1.10935363
83	EZH2_22144423_ChIP-Seq_EOC_Human	1.10171295
84	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.09616686
85	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.09576638
86	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.08251208
87	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.07607655
88	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.07394265
89	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.06583979
90	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.06492402
91	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.06342151
92	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.05836638
93	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.05226625
94	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.04847716
95	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.04742618
96	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.03226220
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.03079672
98	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.02532904
99	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.02341394
100	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.02009723

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010368_abnormal_lymphatic_system	4.55206440
2	MP0000013_abnormal_adipose_tissue	4.20812628
3	MP0000749_muscle_degeneration	3.65630083
4	MP0003880_abnormal_central_pattern	3.45963032
5	MP0002928_abnormal_bile_duct	3.30239081
6	MP0009780_abnormal_chondrocyte_physiolo	3.11097100
7	MP0000751_myopathy	2.98515257
8	MP0003011_delayed_dark_adaptation	2.66298184
9	MP0003279_aneurysm	2.61150789
10	MP0008438_abnormal_cutaneous_collagen	2.56301887
11	MP0006276_abnormal_autonomic_nervous	2.55618787
12	MP0003283_abnormal_digestive_organ	2.54015418
13	MP0004036_abnormal_muscle_relaxation	2.49888502
14	MP0004084_abnormal_cardiac_muscle	2.40434560
15	MP0001879_abnormal_lymphatic_vessel	2.12523561
16	MP0004272_abnormal_basement_membrane	2.01423268
17	MP0003045_fibrosis	1.93914803
18	MP0002138_abnormal_hepatobiliary_system	1.91282305
19	MP0002638_abnormal_pupillary_reflex	1.87882918
20	MP0004145_abnormal_muscle_electrophysio	1.85739555
21	MP0002108_abnormal_muscle_morphology	1.81095800
22	MP0002837_dystrophic_cardiac_calcinosis	1.77453814
23	MP0005503_abnormal_tendon_morphology	1.75337745
24	MP0006138_congestive_heart_failure	1.68570128
25	MP0004130_abnormal_muscle_cell	1.65031652
26	MP0001968_abnormal_touch/_nociception	1.59806062
27	MP0000372_irregular_coat_pigmentation	1.58818694
28	MP0003191_abnormal_cellular_cholesterol	1.57312641
29	MP0005084_abnormal_gallbladder_morpholo	1.56008255
30	MP0000569_abnormal_digit_pigmentation	1.55661486
31	MP0003828_pulmonary_edema	1.52334660
32	MP0001486_abnormal_startle_reflex	1.49548029
33	MP0003385_abnormal_body_wall	1.49256060
34	MP0000747_muscle_weakness	1.48866101
35	MP0001958_emphysema	1.48840609
36	MP0005410_abnormal_fertilization	1.37806620
37	MP0004087_abnormal_muscle_fiber	1.35309851
38	MP0002932_abnormal_joint_morphology	1.31356554
39	MP0003950_abnormal_plasma_membrane	1.31023770
40	MP0000767_abnormal_smooth_muscle	1.30769780
41	MP0002735_abnormal_chemical_nociception	1.29669823
42	MP0005360_urolithiasis	1.28663448
43	MP0000778_abnormal_nervous_system	1.27806782
44	MP0002269_muscular_atrophy	1.26006720
45	MP0008775_abnormal_heart_ventricle	1.25750464
46	MP0009250_abnormal_appendicular_skeleto	1.25428983
47	MP0002295_abnormal_pulmonary_circulatio	1.24580665
48	MP0002249_abnormal_larynx_morphology	1.19597343
49	MP0002160_abnormal_reproductive_system	1.19501360
50	MP0004215_abnormal_myocardial_fiber	1.19100949
51	MP0005623_abnormal_meninges_morphology	1.12388089
52	MP0003787_abnormal_imprinting	1.12137680
53	MP0000759_abnormal_skeletal_muscle	1.10480788
54	MP0005620_abnormal_muscle_contractility	1.09409756
55	MP0001986_abnormal_taste_sensitivity	1.07096165
56	MP0004484_altered_response_of	1.05057872
57	MP0000733_abnormal_muscle_development	1.03041128
58	MP0005220_abnormal_exocrine_pancreas	1.02564950
59	MP0000750_abnormal_muscle_regeneration	0.97444797
60	MP0000538_abnormal_urinary_bladder	0.96483325
61	MP0003252_abnormal_bile_duct	0.96161688
62	MP0002102_abnormal_ear_morphology	0.95805200
63	MP0005253_abnormal_eye_physiology	0.94982292
64	MP0004859_abnormal_synaptic_plasticity	0.92028567
65	MP0005385_cardiovascular_system_phenoty	0.91661850
66	MP0001544_abnormal_cardiovascular_syste	0.91661850
67	MP0001286_abnormal_eye_development	0.90877963
68	MP0005275_abnormal_skin_tensile	0.90470938
69	MP0005187_abnormal_penis_morphology	0.87579190
70	MP0001270_distended_abdomen	0.86553959
71	MP0002067_abnormal_sensory_capabilities	0.86226367
72	MP0002127_abnormal_cardiovascular_syste	0.84808440
73	MP0005551_abnormal_eye_electrophysiolog	0.84034316
74	MP0005595_abnormal_vascular_smooth	0.81867047
75	MP0000003_abnormal_adipose_tissue	0.81549705
76	MP0004142_abnormal_muscle_tone	0.80565157
77	MP0002282_abnormal_trachea_morphology	0.78838954
78	MP0002063_abnormal_learning/memory/cond	0.76602479
79	MP0003935_abnormal_craniofacial_develop	0.73372271
80	MP0008057_abnormal_DNA_replication	0.72998969
81	MP0002163_abnormal_gland_morphology	0.72007390
82	MP0002332_abnormal_exercise_endurance	0.71043474
83	MP0003959_abnormal_lean_body	0.70584378
84	MP0001502_abnormal_circadian_rhythm	0.69662088
85	MP0005369_muscle_phenotype	0.69492248
86	MP0002933_joint_inflammation	0.68902872
87	MP0001188_hyperpigmentation	0.67775221
88	MP0004510_myositis	0.67560201
89	MP0003635_abnormal_synaptic_transmissio	0.67329338
90	MP0003122_maternal_imprinting	0.67322879
91	MP0002090_abnormal_vision	0.67217261
92	MP0002064_seizures	0.66921568
93	MP0002697_abnormal_eye_size	0.66055019
94	MP0000955_abnormal_spinal_cord	0.63931665
95	MP0003115_abnormal_respiratory_system	0.62899450
96	MP0005171_absent_coat_pigmentation	0.62669647
97	MP0005330_cardiomyopathy	0.62381047
98	MP0002128_abnormal_blood_circulation	0.60865061
99	MP0009703_decreased_birth_body	0.60393631
100	MP0002115_abnormal_skeleton_extremities	0.60115092

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Calf muscle hypertrophy (HP:0008981)	7.36098567
2	Muscle hypertrophy of the lower extremities (HP:0008968)	6.46950670
3	Abnormality of the pulmonary veins (HP:0011718)	4.89184858
4	Abnormality of the calf musculature (HP:0001430)	4.36418721
5	Type II lissencephaly (HP:0007260)	4.32781629
6	Anomalous pulmonary venous return (HP:0010772)	3.97829680
7	Cerebellar dysplasia (HP:0007033)	3.71492252
8	Enlarged kidneys (HP:0000105)	3.68502116
9	Abnormal finger flexion creases (HP:0006143)	3.44883576
10	Hyperventilation (HP:0002883)	3.38632669
11	Diastasis recti (HP:0001540)	3.36294141
12	Hypoplastic pelvis (HP:0008839)	3.25371990
13	Shoulder girdle muscle weakness (HP:0003547)	3.22491691
14	Clumsiness (HP:0002312)	3.21365107
15	Aortic aneurysm (HP:0004942)	3.15449318
16	Nonimmune hydrops fetalis (HP:0001790)	3.13305858
17	Fair hair (HP:0002286)	3.12229552
18	Abnormal biliary tract physiology (HP:0012439)	3.02933870
19	Bile duct proliferation (HP:0001408)	3.02933870
20	Abnormality of the musculature of the pelvis (HP:0001469)	2.87043858
21	Abnormality of the hip-girdle musculature (HP:0001445)	2.87043858
22	Pelvic girdle muscle weakness (HP:0003749)	2.84518038
23	Protruding tongue (HP:0010808)	2.77832933
24	Tubulointerstitial fibrosis (HP:0005576)	2.77707802
25	Hypoventilation (HP:0002791)	2.76166342
26	Abnormality of the ischium (HP:0003174)	2.75162210
27	Tubulointerstitial abnormality (HP:0001969)	2.63554736
28	Capillary hemangiomas (HP:0005306)	2.60889359
29	Neonatal hypoglycemia (HP:0001998)	2.60330456
30	Absent phalangeal crease (HP:0006109)	2.55824194
31	Abnormality of the renal cortex (HP:0011035)	2.51307783
32	Supernumerary spleens (HP:0009799)	2.51200246
33	Neonatal short-limb short stature (HP:0008921)	2.50252716
34	Limb-girdle muscle atrophy (HP:0003797)	2.49293200
35	Potter facies (HP:0002009)	2.48208932
36	Facial shape deformation (HP:0011334)	2.48208932
37	Macroglossia (HP:0000158)	2.47331703
38	Ulnar claw (HP:0001178)	2.45498254
39	EMG: myopathic abnormalities (HP:0003458)	2.42166664
40	Pancreatic fibrosis (HP:0100732)	2.41562429
41	Abnormal drinking behavior (HP:0030082)	2.38914891
42	Polydipsia (HP:0001959)	2.38914891
43	Peritonitis (HP:0002586)	2.37997607
44	Hypoplastic iliac wings (HP:0002866)	2.37047131
45	Hypoplastic ischia (HP:0003175)	2.33848325
46	Febrile seizures (HP:0002373)	2.33058670
47	Hyporeflexia of lower limbs (HP:0002600)	2.31144836
48	Limb-girdle muscle weakness (HP:0003325)	2.30872684
49	Meningocele (HP:0002435)	2.30042198
50	Delayed gross motor development (HP:0002194)	2.29179216
51	Partial agenesis of the corpus callosum (HP:0001338)	2.28814054
52	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.28266229
53	Gastrointestinal infarctions (HP:0005244)	2.27624793
54	Infantile muscular hypotonia (HP:0008947)	2.26802931
55	Arthropathy (HP:0003040)	2.25717268
56	Narrow palate (HP:0000189)	2.25231364
57	Abnormality of the intervertebral disk (HP:0005108)	2.24569476
58	Tubular atrophy (HP:0000092)	2.20454383
59	Difficulty climbing stairs (HP:0003551)	2.18593079
60	Hypoplastic heart (HP:0001961)	2.13870451
61	Hypoplastic left heart (HP:0004383)	2.13024032
62	Oligodactyly (hands) (HP:0001180)	2.11157065
63	Frequent falls (HP:0002359)	2.10665091
64	Broad ribs (HP:0000885)	2.08955065
65	Aplasia/Hypoplasia of the 5th finger (HP:0006262)	2.08358751
66	Atonic seizures (HP:0010819)	2.03891157
67	Abnormality of incisor morphology (HP:0011063)	2.01346478
68	Achilles tendon contracture (HP:0001771)	1.99251357
69	Asymmetric septal hypertrophy (HP:0001670)	1.97050076
70	Overgrowth (HP:0001548)	1.96145143
71	Steppage gait (HP:0003376)	1.95539253
72	Pancreatic cysts (HP:0001737)	1.95232253
73	Chronic hepatic failure (HP:0100626)	1.94541301
74	Azoospermia (HP:0000027)	1.94139101
75	Abnormality of the odontoid process (HP:0003310)	1.92854290
76	True hermaphroditism (HP:0010459)	1.90668255
77	Truncal ataxia (HP:0002078)	1.83873435
78	Asplenia (HP:0001746)	1.82227064
79	Gonadotropin excess (HP:0000837)	1.81359782
80	Pachygyria (HP:0001302)	1.77435291
81	Cerebral aneurysm (HP:0004944)	1.77127476
82	Generalized hypopigmentation of hair (HP:0011358)	1.77005188
83	Abnormality of the wing of the ilium (HP:0011867)	1.73773447
84	Metaphyseal dysplasia (HP:0100255)	1.69242413
85	Abnormality of the Achilles tendon (HP:0005109)	1.68794091
86	Poor eye contact (HP:0000817)	1.67798768
87	Difficulty walking (HP:0002355)	1.67502352
88	Atrial fibrillation (HP:0005110)	1.67287391
89	Vertebral fusion (HP:0002948)	1.66207971
90	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.66159429
91	Myoglobinuria (HP:0002913)	1.65918971
92	Impaired social interactions (HP:0000735)	1.64598589
93	Abnormal social behavior (HP:0012433)	1.64598589
94	Abnormal hair whorl (HP:0010721)	1.62856662
95	Abnormal pancreas size (HP:0012094)	1.62423422
96	Focal motor seizures (HP:0011153)	1.62416053
97	Aortic dissection (HP:0002647)	1.60089761
98	Hypoplastic ilia (HP:0000946)	1.59438785
99	Polyuria (HP:0000103)	1.58791691
100	Abnormality of skull ossification (HP:0002703)	1.58108239

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	KDR	6.27658544
2	MAPK15	5.81237179
3	BMPR1B	3.42410945
4	MKNK2	2.94968897
5	BLK	2.78616114
6	MAP3K4	2.32542876
7	CDK3	2.22541293
8	CDK8	1.94541923
9	OBSCN	1.86043564
10	PNCK	1.83030493
11	NTRK3	1.80525141
12	MAP3K7	1.78224692
13	TAOK3	1.69657065
14	NEK1	1.52439050
15	MUSK	1.47388273
16	LATS1	1.47236314
17	NUAK1	1.46325678
18	AKT3	1.45692889
19	VRK1	1.43550800
20	TGFBR1	1.27764098
21	MAP3K14	1.27413964
22	MAP2K7	1.23825498
23	MKNK1	1.19983781
24	MAP3K2	1.19739936
25	NEK6	1.19717936
26	FRK	1.14338599
27	WEE1	1.13882877
28	DYRK1A	1.12539828
29	STK16	1.06524600
30	BRD4	1.05183811
31	BMX	1.04609429
32	TGFBR2	1.02980304
33	PINK1	1.01998482
34	MAP2K4	1.00553176
35	MAP3K13	0.97916377
36	STK4	0.96026612
37	TYRO3	0.93586213
38	EIF2AK3	0.93301182
39	ADRBK2	0.93122085
40	KIT	0.92703722
41	MARK2	0.88683836
42	FES	0.86810547
43	SCYL2	0.84757671
44	CSNK1G2	0.84634900
45	MOS	0.84431905
46	TEC	0.84226001
47	HIPK2	0.83650862
48	PAK2	0.83460453
49	ZAK	0.82979092
50	BMPR2	0.81237363
51	PIK3CA	0.80250989
52	TSSK6	0.79210376
53	MAP3K10	0.78307525
54	PTK2B	0.75121809
55	RET	0.73169859
56	RAF1	0.72206082
57	PIK3CG	0.71981909
58	TNIK	0.70921297
59	PRKG1	0.69276149
60	PLK2	0.67912852
61	TNK2	0.66229237
62	RPS6KA4	0.64225269
63	STK11	0.61677365
64	PIM2	0.53473979
65	IKBKB	0.52367260
66	ABL2	0.50491900
67	CDK6	0.48367523
68	PKN1	0.47514824
69	CSNK1D	0.46888580
70	TTN	0.45607061
71	CAMK2D	0.45554778
72	PDGFRB	0.44777307
73	CAMK2A	0.43562105
74	CSNK1G1	0.42778111
75	MARK1	0.42428910
76	PRKCE	0.42250966
77	MAPK10	0.41084653
78	TLK1	0.40927866
79	MAPK13	0.37501330
80	CAMKK2	0.37218553
81	IRAK2	0.36590070
82	CAMK1	0.36377037
83	DYRK1B	0.34507394
84	BRSK2	0.33878854
85	PDGFRA	0.33562933
86	CSNK1G3	0.33367069
87	GRK5	0.32735364
88	STK3	0.32089872
89	CAMK2B	0.31764872
90	KSR2	0.31746589
91	CAMK4	0.31680422
92	ROCK1	0.30772390
93	STK38L	0.30551513
94	MAPK12	0.30418985
95	RPS6KA5	0.29109241
96	AKT2	0.26939592
97	SYK	0.26050799
98	MAP2K2	0.24726048
99	MAPK1	0.23884893
100	PRKACB	0.23575629

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	3.21281819
2	Regulation of autophagy_Homo sapiens_hsa04140	2.67863068
3	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.23766853
4	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.22691437
5	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	2.16375010
6	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.05003559
7	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.91701493
8	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.89420523
9	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.80782314
10	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.58797472
11	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.53744429
12	Platelet activation_Homo sapiens_hsa04611	1.53536173
13	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.43292766
14	Glutamatergic synapse_Homo sapiens_hsa04724	1.41757092
15	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.38883549
16	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	1.38794478
17	Circadian entrainment_Homo sapiens_hsa04713	1.38269323
18	Circadian rhythm_Homo sapiens_hsa04710	1.34291975
19	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.32538987
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.32197920
21	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.30882186
22	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.30612188
23	Lysine degradation_Homo sapiens_hsa00310	1.29980542
24	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.29464095
25	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.28867954
26	Insulin secretion_Homo sapiens_hsa04911	1.27319888
27	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.26084600
28	GABAergic synapse_Homo sapiens_hsa04727	1.21772130
29	RNA degradation_Homo sapiens_hsa03018	1.15266930
30	Estrogen signaling pathway_Homo sapiens_hsa04915	1.14476030
31	Taste transduction_Homo sapiens_hsa04742	1.14347243
32	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	1.14012751
33	cAMP signaling pathway_Homo sapiens_hsa04024	1.13825729
34	Rap1 signaling pathway_Homo sapiens_hsa04015	1.11254127
35	beta-Alanine metabolism_Homo sapiens_hsa00410	1.10343316
36	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.09211261
37	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.06411728
38	Salivary secretion_Homo sapiens_hsa04970	1.04984525
39	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.04928644
40	mTOR signaling pathway_Homo sapiens_hsa04150	1.04151182
41	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.02637555
42	Cholinergic synapse_Homo sapiens_hsa04725	1.02144683
43	Morphine addiction_Homo sapiens_hsa05032	1.01146819
44	Calcium signaling pathway_Homo sapiens_hsa04020	1.00786204
45	Long-term depression_Homo sapiens_hsa04730	1.00462659
46	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.99788584
47	GnRH signaling pathway_Homo sapiens_hsa04912	0.99761263
48	ECM-receptor interaction_Homo sapiens_hsa04512	0.99580434
49	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.98486515
50	Melanogenesis_Homo sapiens_hsa04916	0.98370585
51	Type II diabetes mellitus_Homo sapiens_hsa04930	0.98282846
52	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.97202608
53	Melanoma_Homo sapiens_hsa05218	0.94836109
54	Basal cell carcinoma_Homo sapiens_hsa05217	0.93466448
55	FoxO signaling pathway_Homo sapiens_hsa04068	0.92980067
56	Gap junction_Homo sapiens_hsa04540	0.92656393
57	Focal adhesion_Homo sapiens_hsa04510	0.91796992
58	MAPK signaling pathway_Homo sapiens_hsa04010	0.90530531
59	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.84519742
60	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.81466901
61	Nicotine addiction_Homo sapiens_hsa05033	0.79822585
62	ABC transporters_Homo sapiens_hsa02010	0.79784807
63	Ras signaling pathway_Homo sapiens_hsa04014	0.79383961
64	Hippo signaling pathway_Homo sapiens_hsa04390	0.78889161
65	Cocaine addiction_Homo sapiens_hsa05030	0.76473878
66	Wnt signaling pathway_Homo sapiens_hsa04310	0.76431396
67	Colorectal cancer_Homo sapiens_hsa05210	0.75485415
68	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.74303354
69	TNF signaling pathway_Homo sapiens_hsa04668	0.73898890
70	Propanoate metabolism_Homo sapiens_hsa00640	0.68976934
71	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.68841814
72	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.68740066
73	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.68523802
74	Alcoholism_Homo sapiens_hsa05034	0.67931022
75	Mineral absorption_Homo sapiens_hsa04978	0.67544161
76	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.67393480
77	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.65767077
78	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.65279771
79	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.63906803
80	Renin secretion_Homo sapiens_hsa04924	0.62717925
81	Pathways in cancer_Homo sapiens_hsa05200	0.56660492
82	Axon guidance_Homo sapiens_hsa04360	0.55301198
83	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.55253113
84	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.54732015
85	Small cell lung cancer_Homo sapiens_hsa05222	0.54541149
86	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	0.52771085
87	Amphetamine addiction_Homo sapiens_hsa05031	0.52623829
88	Oocyte meiosis_Homo sapiens_hsa04114	0.52048916
89	ErbB signaling pathway_Homo sapiens_hsa04012	0.51621148
90	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.51113696
91	Olfactory transduction_Homo sapiens_hsa04740	0.50513566
92	Osteoclast differentiation_Homo sapiens_hsa04380	0.48481150
93	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.48118105
94	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.47799854
95	Basal transcription factors_Homo sapiens_hsa03022	0.47073446
96	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.46766665
97	Gastric acid secretion_Homo sapiens_hsa04971	0.46583203
98	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.46172228
99	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.45760745
100	PPAR signaling pathway_Homo sapiens_hsa03320	0.43851704

NPHP3-ACAD11

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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