ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of sarcomere organization (GO:0060297)	4.39684199
2	cellular ketone body metabolic process (GO:0046950)	4.35327891
3	ketone body metabolic process (GO:1902224)	4.12816260
4	response to pheromone (GO:0019236)	4.09065454
5	behavioral response to nicotine (GO:0035095)	3.75597911
6	regulation of action potential (GO:0098900)	3.68910019
7	regulation of glucokinase activity (GO:0033131)	3.68423074
8	regulation of hexokinase activity (GO:1903299)	3.68423074
9	L-fucose catabolic process (GO:0042355)	3.68353915
10	fucose catabolic process (GO:0019317)	3.68353915
11	L-fucose metabolic process (GO:0042354)	3.68353915
12	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.43996572
13	atrial cardiac muscle cell action potential (GO:0086014)	3.24458719
14	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.23161296
15	plasma membrane repair (GO:0001778)	3.12213104
16	protein localization to cilium (GO:0061512)	3.10707147
17	muscle cell cellular homeostasis (GO:0046716)	3.07606363
18	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.06030270
19	dopamine transport (GO:0015872)	3.02431083
20	negative regulation of nitric-oxide synthase activity (GO:0051001)	3.01240180
21	epithelial cilium movement (GO:0003351)	2.96174088
22	cornea development in camera-type eye (GO:0061303)	2.94451315
23	regulation of skeletal muscle contraction (GO:0014819)	2.94372264
24	intraciliary transport (GO:0042073)	2.91036723
25	retinal cone cell development (GO:0046549)	2.90598285
26	protein complex biogenesis (GO:0070271)	2.89265371
27	cilium morphogenesis (GO:0060271)	2.84126609
28	limb bud formation (GO:0060174)	2.82317934
29	behavioral response to ethanol (GO:0048149)	2.79260062
30	nucleobase catabolic process (GO:0046113)	2.76277898
31	positive regulation of growth hormone secretion (GO:0060124)	2.73996802
32	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	2.72693914
33	pyrimidine nucleobase catabolic process (GO:0006208)	2.72092954
34	ribonucleoprotein complex disassembly (GO:0032988)	2.69080984
35	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.69024095
36	coenzyme catabolic process (GO:0009109)	2.68165438
37	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.68057669
38	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.68057669
39	NADH dehydrogenase complex assembly (GO:0010257)	2.68057669
40	insulin secretion (GO:0030073)	2.67629780
41	ubiquinone metabolic process (GO:0006743)	2.67544519
42	regulation of dopamine secretion (GO:0014059)	2.66711597
43	polyol catabolic process (GO:0046174)	2.63490229
44	platelet dense granule organization (GO:0060155)	2.62487151
45	cilium organization (GO:0044782)	2.60010379
46	lymphangiogenesis (GO:0001946)	2.59008187
47	inositol phosphate catabolic process (GO:0071545)	2.58894482
48	detection of light stimulus involved in sensory perception (GO:0050962)	2.58775681
49	detection of light stimulus involved in visual perception (GO:0050908)	2.58775681
50	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.57989228
51	kidney morphogenesis (GO:0060993)	2.57893163
52	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.57830536
53	indole-containing compound catabolic process (GO:0042436)	2.57654921
54	indolalkylamine catabolic process (GO:0046218)	2.57654921
55	tryptophan catabolic process (GO:0006569)	2.57654921
56	cilium assembly (GO:0042384)	2.57012776
57	auditory behavior (GO:0031223)	2.56476173
58	cilium movement (GO:0003341)	2.56212615
59	glycosphingolipid biosynthetic process (GO:0006688)	2.55537597
60	regulation of neurotransmitter uptake (GO:0051580)	2.53109644
61	ubiquinone biosynthetic process (GO:0006744)	2.52908181
62	renal tubule morphogenesis (GO:0061333)	2.52330045
63	mitochondrial respiratory chain complex assembly (GO:0033108)	2.51141499
64	S-adenosylmethionine metabolic process (GO:0046500)	2.50659700
65	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.49626385
66	somite rostral/caudal axis specification (GO:0032525)	2.48521223
67	sulfation (GO:0051923)	2.47370240
68	neuron cell-cell adhesion (GO:0007158)	2.46918940
69	regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	2.45955600
70	regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	2.45955600
71	positive regulation of glycolytic process (GO:0045821)	2.45230523
72	neuronal action potential (GO:0019228)	2.43495286
73	response to muscle activity (GO:0014850)	2.39761727
74	regulation of synaptic transmission, dopaminergic (GO:0032225)	2.36643830
75	synaptic transmission, cholinergic (GO:0007271)	2.35552135
76	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.34924725
77	protein polyglutamylation (GO:0018095)	2.34715904
78	action potential (GO:0001508)	2.33398812
79	organelle disassembly (GO:1903008)	2.32973443
80	negative regulation of telomere maintenance (GO:0032205)	2.32782218
81	endocrine pancreas development (GO:0031018)	2.31306691
82	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.30209218
83	cellular component assembly involved in morphogenesis (GO:0010927)	2.28407280
84	positive regulation of gastrulation (GO:2000543)	2.27946786
85	dentate gyrus development (GO:0021542)	2.27360103
86	nonmotile primary cilium assembly (GO:0035058)	2.27307508
87	activation of protein kinase B activity (GO:0032148)	2.27162609
88	positive regulation of catecholamine secretion (GO:0033605)	2.26724917
89	regulation of membrane repolarization (GO:0060306)	2.26524361
90	lactate metabolic process (GO:0006089)	2.26371040
91	prenylation (GO:0097354)	2.25927118
92	protein prenylation (GO:0018342)	2.25927118
93	quinone biosynthetic process (GO:1901663)	2.25741762
94	nephron epithelium morphogenesis (GO:0072088)	2.25616082
95	nephron tubule morphogenesis (GO:0072078)	2.25616082
96	positive regulation of amine transport (GO:0051954)	2.25526040
97	negative regulation of mast cell activation (GO:0033004)	2.24776181
98	water-soluble vitamin biosynthetic process (GO:0042364)	2.24258191
99	presynaptic membrane assembly (GO:0097105)	2.24175050
100	reflex (GO:0060004)	2.24152239

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.79859240
2	VDR_22108803_ChIP-Seq_LS180_Human	3.76127618
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.43976018
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.28616979
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.80393166
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.78525222
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.74573062
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.64105331
9	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.43257509
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.34386761
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.32804759
12	FUS_26573619_Chip-Seq_HEK293_Human	2.21858267
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.15832615
14	P300_19829295_ChIP-Seq_ESCs_Human	2.09343146
15	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.91352421
16	EWS_26573619_Chip-Seq_HEK293_Human	1.90919965
17	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.87234902
18	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.80159375
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.80082713
20	SMAD4_21799915_ChIP-Seq_A2780_Human	1.79475920
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.73498147
22	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.72612220
23	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.68383232
24	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.67125147
25	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.66688740
26	EZH2_22144423_ChIP-Seq_EOC_Human	1.62148304
27	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.59685206
28	BCAT_22108803_ChIP-Seq_LS180_Human	1.59318625
29	TAF15_26573619_Chip-Seq_HEK293_Human	1.57499972
30	CBP_20019798_ChIP-Seq_JUKART_Human	1.56907982
31	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56907982
32	STAT3_23295773_ChIP-Seq_U87_Human	1.55215935
33	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.53338911
34	AR_25329375_ChIP-Seq_VCAP_Human	1.51768248
35	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51709922
36	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.48613457
37	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.47484471
38	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.46598649
39	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.46431267
40	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.44629378
41	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.41297210
42	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.40284586
43	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.40248249
44	TCF4_23295773_ChIP-Seq_U87_Human	1.38073036
45	* TCF4_22108803_ChIP-Seq_LS180_Human	1.34694384
46	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.30203850
47	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.29494541
48	RUNX2_22187159_ChIP-Seq_PCA_Human	1.28632758
49	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.27796516
50	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.27434686
51	NANOG_19829295_ChIP-Seq_ESCs_Human	1.25994825
52	SOX2_19829295_ChIP-Seq_ESCs_Human	1.25994825
53	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.25279901
54	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.25214451
55	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.23925452
56	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.23154147
57	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.22435915
58	RNF2_27304074_Chip-Seq_NSC_Mouse	1.21814104
59	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.20729924
60	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.20297987
61	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.20174344
62	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.18526855
63	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.18526855
64	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.17874159
65	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.17173403
66	CDX2_22108803_ChIP-Seq_LS180_Human	1.16426864
67	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.16289446
68	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.14464170
69	REST_21632747_ChIP-Seq_MESCs_Mouse	1.12953187
70	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.12700298
71	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.12024911
72	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.11041739
73	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.10919653
74	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.09240761
75	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.08813737
76	TBL1_22424771_ChIP-Seq_293T_Human	1.07378985
77	TP53_22573176_ChIP-Seq_HFKS_Human	1.06299911
78	TP53_18474530_ChIP-ChIP_U2OS_Human	1.04374051
79	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.03814771
80	P53_22387025_ChIP-Seq_ESCs_Mouse	1.03689254
81	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.03210276
82	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.03086617
83	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.02970539
84	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.02642963
85	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.01959011
86	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.00601633
87	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.00465109
88	AHR_22903824_ChIP-Seq_MCF-7_Human	1.00438930
89	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.00398281
90	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.99669905
91	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.99669905
92	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.99555428
93	HTT_18923047_ChIP-ChIP_STHdh_Human	0.99040101
94	CJUN_26792858_Chip-Seq_BT549_Human	0.98358934
95	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.97977926
96	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.96472654
97	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.96028407
98	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.95929625
99	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.95885489
100	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.95862655

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.63011509
2	MP0002837_dystrophic_cardiac_calcinosis	3.17544880
3	MP0006072_abnormal_retinal_apoptosis	2.76434984
4	MP0000569_abnormal_digit_pigmentation	2.52645673
5	MP0003950_abnormal_plasma_membrane	2.45414734
6	MP0003195_calcinosis	2.37087963
7	MP0009046_muscle_twitch	2.35035939
8	MP0003283_abnormal_digestive_organ	2.16787545
9	MP0010386_abnormal_urinary_bladder	2.13232665
10	MP0005551_abnormal_eye_electrophysiolog	2.07815461
11	MP0004885_abnormal_endolymph	2.06546866
12	MP0005187_abnormal_penis_morphology	2.06006707
13	MP0000749_muscle_degeneration	2.02515762
14	MP0005174_abnormal_tail_pigmentation	2.01671059
15	MP0002822_catalepsy	1.93020330
16	MP0005253_abnormal_eye_physiology	1.87718498
17	MP0005646_abnormal_pituitary_gland	1.78149374
18	MP0002909_abnormal_adrenal_gland	1.66826463
19	MP0001984_abnormal_olfaction	1.66072091
20	MP0002938_white_spotting	1.60510065
21	MP0003880_abnormal_central_pattern	1.60006962
22	MP0001501_abnormal_sleep_pattern	1.58387082
23	MP0009745_abnormal_behavioral_response	1.57089551
24	MP0000516_abnormal_urinary_system	1.54775555
25	MP0005367_renal/urinary_system_phenotyp	1.54775555
26	MP0002638_abnormal_pupillary_reflex	1.54186008
27	MP0004133_heterotaxia	1.54177797
28	MP0005645_abnormal_hypothalamus_physiol	1.52938417
29	MP0001968_abnormal_touch/_nociception	1.50724351
30	MP0000372_irregular_coat_pigmentation	1.50685787
31	MP0002272_abnormal_nervous_system	1.45760614
32	MP0001486_abnormal_startle_reflex	1.43750286
33	MP0000015_abnormal_ear_pigmentation	1.41873422
34	MP0001529_abnormal_vocalization	1.41837918
35	MP0001905_abnormal_dopamine_level	1.40656371
36	MP0000013_abnormal_adipose_tissue	1.37403556
37	MP0003252_abnormal_bile_duct	1.30235949
38	MP0008872_abnormal_physiological_respon	1.29244876
39	MP0010368_abnormal_lymphatic_system	1.28632464
40	MP0003136_yellow_coat_color	1.27978013
41	MP0006292_abnormal_olfactory_placode	1.26349329
42	MP0000631_abnormal_neuroendocrine_gland	1.24324981
43	MP0004084_abnormal_cardiac_muscle	1.23820875
44	MP0004142_abnormal_muscle_tone	1.23499209
45	MP0002160_abnormal_reproductive_system	1.23454442
46	MP0004145_abnormal_muscle_electrophysio	1.22113222
47	MP0004215_abnormal_myocardial_fiber	1.20984639
48	MP0002095_abnormal_skin_pigmentation	1.17753723
49	MP0001188_hyperpigmentation	1.17440921
50	MP0002735_abnormal_chemical_nociception	1.17275418
51	MP0006036_abnormal_mitochondrial_physio	1.16491467
52	MP0001485_abnormal_pinna_reflex	1.14876192
53	MP0003646_muscle_fatigue	1.14132021
54	MP0006276_abnormal_autonomic_nervous	1.13365083
55	MP0002928_abnormal_bile_duct	1.12688538
56	MP0009780_abnormal_chondrocyte_physiolo	1.12139580
57	MP0001502_abnormal_circadian_rhythm	1.11851122
58	MP0003787_abnormal_imprinting	1.10972008
59	MP0002876_abnormal_thyroid_physiology	1.10527433
60	MP0008775_abnormal_heart_ventricle	1.10013032
61	MP0005386_behavior/neurological_phenoty	1.08866353
62	MP0004924_abnormal_behavior	1.08866353
63	MP0005171_absent_coat_pigmentation	1.07900370
64	MP0002127_abnormal_cardiovascular_syste	1.06719981
65	MP0004270_analgesia	1.06416135
66	MP0002572_abnormal_emotion/affect_behav	1.05269340
67	MP0002751_abnormal_autonomic_nervous	1.05054571
68	MP0002064_seizures	1.04555619
69	MP0008877_abnormal_DNA_methylation	1.03157941
70	MP0002090_abnormal_vision	1.02494205
71	MP0008875_abnormal_xenobiotic_pharmacok	1.01586326
72	MP0003635_abnormal_synaptic_transmissio	1.01181563
73	MP0002736_abnormal_nociception_after	1.00904749
74	MP0001986_abnormal_taste_sensitivity	1.00202223
75	MP0002067_abnormal_sensory_capabilities	0.98858285
76	MP0000427_abnormal_hair_cycle	0.98773984
77	MP0002184_abnormal_innervation	0.97969703
78	MP0002557_abnormal_social/conspecific_i	0.97849852
79	MP0003122_maternal_imprinting	0.97343186
80	MP0005620_abnormal_muscle_contractility	0.96472054
81	MP0000538_abnormal_urinary_bladder	0.94787322
82	MP0004272_abnormal_basement_membrane	0.93131692
83	MP0004742_abnormal_vestibular_system	0.92079876
84	MP0005332_abnormal_amino_acid	0.90637056
85	MP0000230_abnormal_systemic_arterial	0.88381321
86	MP0003137_abnormal_impulse_conducting	0.88016322
87	MP0001944_abnormal_pancreas_morphology	0.86437223
88	MP0002295_abnormal_pulmonary_circulatio	0.85981400
89	MP0002229_neurodegeneration	0.83392915
90	MP0004085_abnormal_heartbeat	0.83173701
91	MP0002734_abnormal_mechanical_nocicepti	0.82399458
92	MP0004036_abnormal_muscle_relaxation	0.81780644
93	MP0001324_abnormal_eye_pigmentation	0.81309769
94	MP0001756_abnormal_urination	0.80076471
95	MP0002138_abnormal_hepatobiliary_system	0.79169588
96	MP0003011_delayed_dark_adaptation	0.78561244
97	MP0000026_abnormal_inner_ear	0.77906315
98	MP0004043_abnormal_pH_regulation	0.76835993
99	MP0005084_abnormal_gallbladder_morpholo	0.76834983
100	MP0005389_reproductive_system_phenotype	0.76607226

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Calf muscle hypertrophy (HP:0008981)	4.72530096
2	Muscle hypertrophy of the lower extremities (HP:0008968)	4.08579748
3	Pancreatic fibrosis (HP:0100732)	3.85902244
4	Nephronophthisis (HP:0000090)	3.74548808
5	Abnormality of midbrain morphology (HP:0002418)	3.73495742
6	Molar tooth sign on MRI (HP:0002419)	3.73495742
7	Congenital stationary night blindness (HP:0007642)	3.72352848
8	Pancreatic cysts (HP:0001737)	3.69048788
9	Hemiparesis (HP:0001269)	3.50179501
10	Abnormality of the renal cortex (HP:0011035)	3.28708087
11	Type II lissencephaly (HP:0007260)	3.21072435
12	Abnormality of the renal medulla (HP:0100957)	3.19676843
13	True hermaphroditism (HP:0010459)	3.18132815
14	Renal cortical cysts (HP:0000803)	3.06745693
15	Gaze-evoked nystagmus (HP:0000640)	2.92059133
16	Medial flaring of the eyebrow (HP:0010747)	2.86461706
17	Inability to walk (HP:0002540)	2.74118748
18	Exercise-induced muscle cramps (HP:0003710)	2.64389931
19	Febrile seizures (HP:0002373)	2.60763530
20	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.59883709
21	Hypoplasia of the fovea (HP:0007750)	2.59883709
22	Attenuation of retinal blood vessels (HP:0007843)	2.57638917
23	Progressive cerebellar ataxia (HP:0002073)	2.53715040
24	Progressive macrocephaly (HP:0004481)	2.52676396
25	Prolonged QT interval (HP:0001657)	2.51673345
26	Cerebellar dysplasia (HP:0007033)	2.50314876
27	Acute necrotizing encephalopathy (HP:0006965)	2.50234856
28	Abnormal rod and cone electroretinograms (HP:0008323)	2.46989438
29	Ketoacidosis (HP:0001993)	2.38389316
30	Large for gestational age (HP:0001520)	2.36327703
31	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.34967752
32	Hypoplastic ischia (HP:0003175)	2.34136217
33	Cystic liver disease (HP:0006706)	2.29793973
34	Delayed gross motor development (HP:0002194)	2.28015196
35	Abnormality of the calf musculature (HP:0001430)	2.27348243
36	Increased corneal curvature (HP:0100692)	2.25515004
37	Keratoconus (HP:0000563)	2.25515004
38	Tubular atrophy (HP:0000092)	2.24872203
39	Abnormal biliary tract physiology (HP:0012439)	2.22951891
40	Bile duct proliferation (HP:0001408)	2.22951891
41	Chronic hepatic failure (HP:0100626)	2.22074295
42	Congenital, generalized hypertrichosis (HP:0004540)	2.21403061
43	Abnormality of the fovea (HP:0000493)	2.21352971
44	Furrowed tongue (HP:0000221)	2.20950071
45	Gait imbalance (HP:0002141)	2.17150245
46	Absent/shortened dynein arms (HP:0200106)	2.17120424
47	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.17120424
48	Abnormality of the ischium (HP:0003174)	2.14859165
49	Hypothermia (HP:0002045)	2.14761121
50	Congenital sensorineural hearing impairment (HP:0008527)	2.12325572
51	Hyperventilation (HP:0002883)	2.10147102
52	Dialeptic seizures (HP:0011146)	2.06638113
53	Abnormal EKG (HP:0003115)	2.06079270
54	Acute encephalopathy (HP:0006846)	2.04748434
55	Abnormal mitochondria in muscle tissue (HP:0008316)	2.04322481
56	Intestinal atresia (HP:0011100)	2.04063360
57	Hyperinsulinemic hypoglycemia (HP:0000825)	2.03020524
58	Congenital primary aphakia (HP:0007707)	2.02075546
59	Mitochondrial inheritance (HP:0001427)	2.01939459
60	Pendular nystagmus (HP:0012043)	2.01922888
61	Hamartoma of the eye (HP:0010568)	2.01837300
62	Anencephaly (HP:0002323)	1.96918948
63	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.96035429
64	Limb dystonia (HP:0002451)	1.95808936
65	Bony spicule pigmentary retinopathy (HP:0007737)	1.94546286
66	Severe muscular hypotonia (HP:0006829)	1.94411407
67	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.93431199
68	Abolished electroretinogram (ERG) (HP:0000550)	1.92678949
69	Ketosis (HP:0001946)	1.92645539
70	Polydipsia (HP:0001959)	1.92022497
71	Abnormal drinking behavior (HP:0030082)	1.92022497
72	Sclerocornea (HP:0000647)	1.92001933
73	Nephrogenic diabetes insipidus (HP:0009806)	1.90669346
74	Anxiety (HP:0000739)	1.90615840
75	Congenital hepatic fibrosis (HP:0002612)	1.90481656
76	Male pseudohermaphroditism (HP:0000037)	1.90214608
77	Optic nerve hypoplasia (HP:0000609)	1.88178740
78	Barrel-shaped chest (HP:0001552)	1.86037179
79	Increased CSF lactate (HP:0002490)	1.85518037
80	Abnormal ciliary motility (HP:0012262)	1.85389742
81	Genital tract atresia (HP:0001827)	1.84599442
82	Tubulointerstitial nephritis (HP:0001970)	1.82638717
83	Abnormal respiratory motile cilium physiology (HP:0012261)	1.82183817
84	Prominent supraorbital ridges (HP:0000336)	1.80797256
85	Abnormal respiratory motile cilium morphology (HP:0005938)	1.80650269
86	Abnormal respiratory epithelium morphology (HP:0012253)	1.80650269
87	Methylmalonic acidemia (HP:0002912)	1.80465129
88	Tachypnea (HP:0002789)	1.79745904
89	Lissencephaly (HP:0001339)	1.79520692
90	Hepatic necrosis (HP:0002605)	1.78935488
91	Hepatocellular necrosis (HP:0001404)	1.78932990
92	Aplasia/Hypoplasia of the macula (HP:0008059)	1.78145459
93	Progressive inability to walk (HP:0002505)	1.77468585
94	Disproportionate short-trunk short stature (HP:0003521)	1.76443308
95	Left ventricular hypertrophy (HP:0001712)	1.76380260
96	Absent speech (HP:0001344)	1.76300761
97	Anterior segment dysgenesis (HP:0007700)	1.75660820
98	Broad-based gait (HP:0002136)	1.74828068
99	Dyskinesia (HP:0100660)	1.74265918
100	Sensory axonal neuropathy (HP:0003390)	1.73551832

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	5.66474296
2	FRK	5.23671293
3	MAP4K2	3.92483401
4	GRK1	2.67311401
5	CASK	2.61311052
6	WNK3	2.36951898
7	ADRBK2	2.35081870
8	TNIK	2.23868397
9	BMPR1B	2.10473699
10	PNCK	1.89765653
11	MARK1	1.89427989
12	NTRK3	1.78567453
13	FGFR2	1.78550685
14	PAK3	1.74485354
15	MARK3	1.72255046
16	MAPKAPK5	1.71155042
17	MAPK13	1.65542197
18	MUSK	1.58915012
19	MYLK	1.57596834
20	STK38L	1.45564725
21	OBSCN	1.45264525
22	MAP3K4	1.39714134
23	CSNK1G1	1.37786659
24	ACVR1B	1.33001652
25	CSNK1G3	1.30006437
26	CSNK1G2	1.27428224
27	DAPK2	1.23419872
28	NUAK1	1.19393681
29	PHKG1	1.16054435
30	PHKG2	1.16054435
31	LATS1	1.13469863
32	OXSR1	1.11251515
33	CSNK1A1L	1.09654995
34	EPHB2	1.03694055
35	EIF2AK3	1.02310539
36	ZAK	1.02236694
37	FER	1.01042245
38	TRIM28	1.00245363
39	PTK2B	0.96355704
40	MAP3K12	0.91339058
41	MAP2K7	0.91095369
42	DYRK2	0.88889885
43	TIE1	0.86852129
44	ADRBK1	0.86330150
45	PRKCE	0.86062263
46	CCNB1	0.86012859
47	TLK1	0.84375241
48	ERBB3	0.82943970
49	STK3	0.79275851
50	MAPK15	0.78603678
51	PRKCG	0.78206341
52	PAK6	0.71749922
53	NLK	0.69811021
54	BRSK2	0.68356536
55	BCR	0.66368749
56	MKNK2	0.64976409
57	STK39	0.63755343
58	WEE1	0.62877136
59	CDK3	0.62314845
60	GRK7	0.57910534
61	CSNK1A1	0.57159304
62	INSRR	0.56467541
63	PLK2	0.55918855
64	KSR1	0.55865540
65	AKT3	0.55721297
66	CAMK2D	0.54797459
67	FGFR3	0.54501124
68	TRPM7	0.54091908
69	WNK4	0.52783901
70	CDK8	0.52065721
71	TGFBR1	0.50755935
72	PKN1	0.48538764
73	NTRK2	0.48239840
74	PRKACB	0.48229627
75	CAMK2A	0.47159370
76	PRKAA2	0.46919677
77	PIK3CA	0.45612516
78	LIMK1	0.44972571
79	CAMK1G	0.44826764
80	NEK2	0.44217776
81	ROCK1	0.44028584
82	PLK3	0.43809965
83	PRKG1	0.42937652
84	MST4	0.42221996
85	EPHA4	0.41505506
86	CSNK1D	0.41335319
87	STK24	0.40721294
88	PRKACA	0.39669691
89	GSK3A	0.39619346
90	MINK1	0.37885980
91	GRK5	0.37879299
92	RPS6KA5	0.34097612
93	TAF1	0.33465083
94	PRKAA1	0.29697571
95	CDK5	0.28838734
96	DYRK1A	0.28708545
97	VRK1	0.28444809
98	CAMK1	0.26911710
99	MAP3K7	0.26431403
100	FLT3	0.24945693

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.13738545
2	Butanoate metabolism_Homo sapiens_hsa00650	3.10224988
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.06371131
4	Protein export_Homo sapiens_hsa03060	2.62790141
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.32620440
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.17448713
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.10098847
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.06660325
9	Phototransduction_Homo sapiens_hsa04744	2.05538519
10	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.83275999
11	Linoleic acid metabolism_Homo sapiens_hsa00591	1.81655617
12	Propanoate metabolism_Homo sapiens_hsa00640	1.79963854
13	Parkinsons disease_Homo sapiens_hsa05012	1.79019055
14	Insulin secretion_Homo sapiens_hsa04911	1.74827069
15	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.74613092
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.72317041
17	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.66539160
18	Caffeine metabolism_Homo sapiens_hsa00232	1.62769449
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.58730665
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.57954116
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.56348791
22	Selenocompound metabolism_Homo sapiens_hsa00450	1.54262348
23	Nicotine addiction_Homo sapiens_hsa05033	1.52787072
24	Cardiac muscle contraction_Homo sapiens_hsa04260	1.51397463
25	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.49578600
26	Taste transduction_Homo sapiens_hsa04742	1.37570067
27	Chemical carcinogenesis_Homo sapiens_hsa05204	1.33375132
28	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.33183880
29	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.32633691
30	Circadian rhythm_Homo sapiens_hsa04710	1.29912225
31	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.27923026
32	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.26574030
33	Olfactory transduction_Homo sapiens_hsa04740	1.25666986
34	Alzheimers disease_Homo sapiens_hsa05010	1.21057977
35	Peroxisome_Homo sapiens_hsa04146	1.19425789
36	Ether lipid metabolism_Homo sapiens_hsa00565	1.18902911
37	beta-Alanine metabolism_Homo sapiens_hsa00410	1.18532191
38	Circadian entrainment_Homo sapiens_hsa04713	1.11605574
39	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.08595731
40	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.06754225
41	Histidine metabolism_Homo sapiens_hsa00340	1.01399714
42	GABAergic synapse_Homo sapiens_hsa04727	1.01105165
43	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.00420492
44	Collecting duct acid secretion_Homo sapiens_hsa04966	0.99937964
45	Folate biosynthesis_Homo sapiens_hsa00790	0.99357803
46	Retinol metabolism_Homo sapiens_hsa00830	0.98673547
47	ABC transporters_Homo sapiens_hsa02010	0.97957911
48	Serotonergic synapse_Homo sapiens_hsa04726	0.96189731
49	Regulation of autophagy_Homo sapiens_hsa04140	0.96074320
50	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.95877318
51	Huntingtons disease_Homo sapiens_hsa05016	0.95581922
52	Renin secretion_Homo sapiens_hsa04924	0.94893012
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.93524034
54	Cocaine addiction_Homo sapiens_hsa05030	0.89731527
55	Fatty acid degradation_Homo sapiens_hsa00071	0.89208063
56	Glutamatergic synapse_Homo sapiens_hsa04724	0.87423355
57	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.86750308
58	Basal transcription factors_Homo sapiens_hsa03022	0.86010032
59	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.84383421
60	Dopaminergic synapse_Homo sapiens_hsa04728	0.82408146
61	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.81193500
62	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.80888978
63	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.80502600
64	Pyruvate metabolism_Homo sapiens_hsa00620	0.79964974
65	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.77307597
66	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.77008562
67	Glycerolipid metabolism_Homo sapiens_hsa00561	0.76477898
68	Amphetamine addiction_Homo sapiens_hsa05031	0.75469521
69	Mineral absorption_Homo sapiens_hsa04978	0.75361610
70	Salivary secretion_Homo sapiens_hsa04970	0.74111368
71	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.72688151
72	Morphine addiction_Homo sapiens_hsa05032	0.69872310
73	Homologous recombination_Homo sapiens_hsa03440	0.67795476
74	Gastric acid secretion_Homo sapiens_hsa04971	0.66193935
75	Calcium signaling pathway_Homo sapiens_hsa04020	0.65286955
76	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.64873804
77	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.64440442
78	Metabolic pathways_Homo sapiens_hsa01100	0.63535360
79	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.63319998
80	Pancreatic secretion_Homo sapiens_hsa04972	0.56765535
81	Long-term depression_Homo sapiens_hsa04730	0.56443126
82	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.56295024
83	Glucagon signaling pathway_Homo sapiens_hsa04922	0.55053980
84	RNA polymerase_Homo sapiens_hsa03020	0.53387579
85	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.53073026
86	RNA degradation_Homo sapiens_hsa03018	0.50704828
87	Arginine and proline metabolism_Homo sapiens_hsa00330	0.50702205
88	Fanconi anemia pathway_Homo sapiens_hsa03460	0.49506638
89	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.49332952
90	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.48658966
91	Proteasome_Homo sapiens_hsa03050	0.48383423
92	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.48206569
93	Tyrosine metabolism_Homo sapiens_hsa00350	0.46902098
94	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.46196863
95	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.44190214
96	cAMP signaling pathway_Homo sapiens_hsa04024	0.43188862
97	Basal cell carcinoma_Homo sapiens_hsa05217	0.42583909
98	Complement and coagulation cascades_Homo sapiens_hsa04610	0.41619894
99	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.41459761
100	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.41351418

MBL1P

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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