ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.24125984
2	DNA deamination (GO:0045006)	4.42867475
3	L-fucose metabolic process (GO:0042354)	4.38873139
4	L-fucose catabolic process (GO:0042355)	4.38873139
5	fucose catabolic process (GO:0019317)	4.38873139
6	cellular ketone body metabolic process (GO:0046950)	4.30425266
7	water-soluble vitamin biosynthetic process (GO:0042364)	4.18729519
8	indolalkylamine metabolic process (GO:0006586)	3.81243054
9	ketone body metabolic process (GO:1902224)	3.78435084
10	protein-cofactor linkage (GO:0018065)	3.73112571
11	nonmotile primary cilium assembly (GO:0035058)	3.63683559
12	indole-containing compound catabolic process (GO:0042436)	3.59293642
13	indolalkylamine catabolic process (GO:0046218)	3.59293642
14	tryptophan catabolic process (GO:0006569)	3.59293642
15	axoneme assembly (GO:0035082)	3.57119848
16	regulation of hexokinase activity (GO:1903299)	3.56653516
17	regulation of glucokinase activity (GO:0033131)	3.56653516
18	response to pheromone (GO:0019236)	3.56618249
19	protein complex biogenesis (GO:0070271)	3.47910255
20	regulation of cilium movement (GO:0003352)	3.47335879
21	protein polyglutamylation (GO:0018095)	3.46945665
22	glycerophospholipid catabolic process (GO:0046475)	3.40905904
23	negative regulation of telomere maintenance (GO:0032205)	3.36335635
24	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.32300520
25	detection of light stimulus involved in sensory perception (GO:0050962)	3.30228012
26	detection of light stimulus involved in visual perception (GO:0050908)	3.30228012
27	kynurenine metabolic process (GO:0070189)	3.28757176
28	mitochondrial respiratory chain complex assembly (GO:0033108)	3.22363959
29	adaptation of signaling pathway (GO:0023058)	3.20068077
30	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.18402756
31	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.18402756
32	NADH dehydrogenase complex assembly (GO:0010257)	3.18402756
33	preassembly of GPI anchor in ER membrane (GO:0016254)	3.17579928
34	regulation of mesoderm development (GO:2000380)	3.11415610
35	cellular response to ATP (GO:0071318)	3.09664436
36	somite rostral/caudal axis specification (GO:0032525)	3.08712393
37	indole-containing compound metabolic process (GO:0042430)	3.07953907
38	piRNA metabolic process (GO:0034587)	3.00321953
39	tryptophan metabolic process (GO:0006568)	2.95561687
40	cilium morphogenesis (GO:0060271)	2.94879520
41	primary amino compound metabolic process (GO:1901160)	2.94430744
42	respiratory chain complex IV assembly (GO:0008535)	2.93102012
43	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.92001720
44	platelet dense granule organization (GO:0060155)	2.89629210
45	neuronal action potential (GO:0019228)	2.87518945
46	S-adenosylmethionine metabolic process (GO:0046500)	2.85647467
47	epithelial cilium movement (GO:0003351)	2.85274708
48	cornea development in camera-type eye (GO:0061303)	2.84766625
49	positive regulation of fatty acid transport (GO:2000193)	2.83586281
50	cell wall macromolecule catabolic process (GO:0016998)	2.82371884
51	cytochrome complex assembly (GO:0017004)	2.81936377
52	cytidine catabolic process (GO:0006216)	2.81836123
53	cytidine deamination (GO:0009972)	2.81836123
54	cytidine metabolic process (GO:0046087)	2.81836123
55	reflex (GO:0060004)	2.81567636
56	positive regulation of prostaglandin secretion (GO:0032308)	2.79727036
57	kidney morphogenesis (GO:0060993)	2.78954713
58	gamma-aminobutyric acid transport (GO:0015812)	2.76646154
59	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.75897799
60	proline transport (GO:0015824)	2.74485757
61	regulation of neurotransmitter uptake (GO:0051580)	2.72210004
62	serotonin metabolic process (GO:0042428)	2.70351010
63	regulation of action potential (GO:0098900)	2.69773843
64	inositol phosphate catabolic process (GO:0071545)	2.67659950
65	male meiosis I (GO:0007141)	2.62188597
66	exogenous drug catabolic process (GO:0042738)	2.62073701
67	protein localization to cilium (GO:0061512)	2.61937516
68	amine catabolic process (GO:0009310)	2.60678048
69	cellular biogenic amine catabolic process (GO:0042402)	2.60678048
70	sulfation (GO:0051923)	2.55975102
71	positive regulation of defense response to virus by host (GO:0002230)	2.54782940
72	alanine transport (GO:0032328)	2.53759893
73	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.53078171
74	regulation of microtubule-based movement (GO:0060632)	2.50979558
75	retinal cone cell development (GO:0046549)	2.50458315
76	GPI anchor metabolic process (GO:0006505)	2.49884057
77	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.48701111
78	nephron tubule morphogenesis (GO:0072078)	2.47983580
79	nephron epithelium morphogenesis (GO:0072088)	2.47983580
80	positive regulation of icosanoid secretion (GO:0032305)	2.47641174
81	polyol catabolic process (GO:0046174)	2.47457939
82	DNA methylation involved in gamete generation (GO:0043046)	2.46733750
83	cellular anion homeostasis (GO:0030002)	2.46532918
84	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.46023440
85	magnesium ion transport (GO:0015693)	2.45594837
86	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.45429141
87	photoreceptor cell development (GO:0042461)	2.44249243
88	ubiquinone biosynthetic process (GO:0006744)	2.44214891
89	positive regulation of cell fate commitment (GO:0010455)	2.41142885
90	synaptic transmission, cholinergic (GO:0007271)	2.40390764
91	parturition (GO:0007567)	2.40228261
92	signal transduction involved in regulation of gene expression (GO:0023019)	2.39136726
93	positive regulation of action potential (GO:0045760)	2.38941059
94	drug catabolic process (GO:0042737)	2.38270226
95	rRNA catabolic process (GO:0016075)	2.37915767
96	inositol phosphate dephosphorylation (GO:0046855)	2.37241127
97	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.37241127
98	aromatic amino acid family catabolic process (GO:0009074)	2.36728488
99	mannosylation (GO:0097502)	2.36649898
100	photoreceptor cell maintenance (GO:0045494)	2.36075510

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.96042295
2	VDR_22108803_ChIP-Seq_LS180_Human	3.19667872
3	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.86020179
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.79165071
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.75589005
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.72443156
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.55233951
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.45345737
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.26669761
10	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.15598923
11	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.15491504
12	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.13069377
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.12872273
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.03909763
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.00397117
16	P300_19829295_ChIP-Seq_ESCs_Human	1.89396443
17	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.88691773
18	EWS_26573619_Chip-Seq_HEK293_Human	1.87554161
19	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.83085746
20	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.76565629
21	TP53_22573176_ChIP-Seq_HFKS_Human	1.70589836
22	FUS_26573619_Chip-Seq_HEK293_Human	1.70485047
23	ER_23166858_ChIP-Seq_MCF-7_Human	1.68095344
24	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.68054179
25	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.64531282
26	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.62969528
27	TAF15_26573619_Chip-Seq_HEK293_Human	1.59545155
28	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.58519842
29	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.57937894
30	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.56727103
31	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.49410404
32	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.49076594
33	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.48034333
34	MYC_18940864_ChIP-ChIP_HL60_Human	1.45152854
35	REST_21632747_ChIP-Seq_MESCs_Mouse	1.41918779
36	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.40145693
37	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.39304523
38	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.37330985
39	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.35983656
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.35759874
41	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.35645087
42	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.33640951
43	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.33018727
44	CBP_20019798_ChIP-Seq_JUKART_Human	1.31113128
45	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.31113128
46	HOXB7_26014856_ChIP-Seq_BT474_Human	1.30829239
47	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.30577683
48	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.28943453
49	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.28943453
50	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.28529645
51	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28117111
52	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28117111
53	STAT3_23295773_ChIP-Seq_U87_Human	1.27637763
54	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.27196025
55	AR_25329375_ChIP-Seq_VCAP_Human	1.25549250
56	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23940114
57	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23215160
58	TCF4_23295773_ChIP-Seq_U87_Human	1.23059102
59	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22572348
60	BCAT_22108803_ChIP-Seq_LS180_Human	1.22279215
61	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.22207397
62	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.21248623
63	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.20792998
64	NCOR_22424771_ChIP-Seq_293T_Human	1.20060714
65	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.19782354
66	TCF4_22108803_ChIP-Seq_LS180_Human	1.19656273
67	SMAD4_21799915_ChIP-Seq_A2780_Human	1.19496198
68	P53_22387025_ChIP-Seq_ESCs_Mouse	1.18259186
69	RNF2_27304074_Chip-Seq_NSC_Mouse	1.18030149
70	AR_20517297_ChIP-Seq_VCAP_Human	1.17079421
71	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.16210396
72	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.15980035
73	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.15318951
74	IRF1_19129219_ChIP-ChIP_H3396_Human	1.14547207
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.14132174
76	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.13888071
77	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.13271425
78	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11945253
79	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.11903488
80	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.09461050
81	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.09106358
82	AR_21572438_ChIP-Seq_LNCaP_Human	1.08486089
83	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.07031061
84	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.06107959
85	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.05987279
86	RUNX2_22187159_ChIP-Seq_PCA_Human	1.05488591
87	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.05241011
88	VDR_23849224_ChIP-Seq_CD4+_Human	1.05233106
89	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.03587193
90	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.03546443
91	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.03470544
92	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.02787721
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.02386945
94	P300_18555785_Chip-Seq_ESCs_Mouse	1.02345428
95	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.00853391
96	HTT_18923047_ChIP-ChIP_STHdh_Human	0.98985068
97	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.98960767
98	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.98960767
99	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.98013181
100	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.97417556

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.56186104
2	MP0008877_abnormal_DNA_methylation	2.98914091
3	MP0005645_abnormal_hypothalamus_physiol	2.63361994
4	MP0002837_dystrophic_cardiac_calcinosis	2.61479666
5	MP0003787_abnormal_imprinting	2.49419483
6	MP0005551_abnormal_eye_electrophysiolog	2.34457504
7	MP0002234_abnormal_pharynx_morphology	2.28234406
8	MP0002102_abnormal_ear_morphology	2.25578274
9	MP0003122_maternal_imprinting	2.24822241
10	MP0008875_abnormal_xenobiotic_pharmacok	2.21502284
11	MP0006072_abnormal_retinal_apoptosis	2.18700155
12	MP0004147_increased_porphyrin_level	2.16310292
13	MP0000569_abnormal_digit_pigmentation	2.15098590
14	MP0002876_abnormal_thyroid_physiology	2.04682231
15	MP0005646_abnormal_pituitary_gland	2.01971499
16	MP0004142_abnormal_muscle_tone	1.98085372
17	MP0008872_abnormal_physiological_respon	1.93949207
18	MP0004885_abnormal_endolymph	1.89980758
19	MP0005084_abnormal_gallbladder_morpholo	1.85115987
20	MP0002938_white_spotting	1.84240773
21	MP0009046_muscle_twitch	1.79412559
22	MP0002163_abnormal_gland_morphology	1.77218548
23	MP0001968_abnormal_touch/_nociception	1.75773107
24	MP0001984_abnormal_olfaction	1.75295254
25	MP0002653_abnormal_ependyma_morphology	1.68891335
26	MP0009745_abnormal_behavioral_response	1.68811105
27	MP0006292_abnormal_olfactory_placode	1.67291471
28	MP0005379_endocrine/exocrine_gland_phen	1.66578200
29	MP0003880_abnormal_central_pattern	1.65861371
30	MP0001986_abnormal_taste_sensitivity	1.62015926
31	MP0001529_abnormal_vocalization	1.59823305
32	MP0005253_abnormal_eye_physiology	1.59028667
33	MP0002272_abnormal_nervous_system	1.51347218
34	MP0001873_stomach_inflammation	1.50837503
35	MP0001501_abnormal_sleep_pattern	1.47921015
36	MP0003646_muscle_fatigue	1.47050157
37	MP0003011_delayed_dark_adaptation	1.46808006
38	MP0003283_abnormal_digestive_organ	1.43457150
39	MP0002638_abnormal_pupillary_reflex	1.41516255
40	MP0003121_genomic_imprinting	1.40420442
41	MP0005389_reproductive_system_phenotype	1.39337172
42	MP0002160_abnormal_reproductive_system	1.37281072
43	MP0008789_abnormal_olfactory_epithelium	1.36291718
44	MP0002736_abnormal_nociception_after	1.34883144
45	MP0002064_seizures	1.33086792
46	MP0002928_abnormal_bile_duct	1.30081137
47	MP0002277_abnormal_respiratory_mucosa	1.29676117
48	MP0002693_abnormal_pancreas_physiology	1.28295386
49	MP0000631_abnormal_neuroendocrine_gland	1.27060020
50	MP0001486_abnormal_startle_reflex	1.27006372
51	MP0002572_abnormal_emotion/affect_behav	1.25487692
52	MP0004133_heterotaxia	1.25125041
53	MP0005332_abnormal_amino_acid	1.24411796
54	MP0001919_abnormal_reproductive_system	1.24310395
55	MP0000427_abnormal_hair_cycle	1.22572041
56	MP0001944_abnormal_pancreas_morphology	1.21073221
57	MP0001905_abnormal_dopamine_level	1.18960587
58	MP0005386_behavior/neurological_phenoty	1.18816298
59	MP0004924_abnormal_behavior	1.18816298
60	MP0004145_abnormal_muscle_electrophysio	1.16237372
61	MP0002909_abnormal_adrenal_gland	1.16141457
62	MP0002557_abnormal_social/conspecific_i	1.14946609
63	MP0005377_hearing/vestibular/ear_phenot	1.14081515
64	MP0003878_abnormal_ear_physiology	1.14081515
65	MP0003136_yellow_coat_color	1.13935799
66	MP0001485_abnormal_pinna_reflex	1.13368297
67	MP0001970_abnormal_pain_threshold	1.09582894
68	MP0001502_abnormal_circadian_rhythm	1.07068698
69	MP0004742_abnormal_vestibular_system	1.06856448
70	MP0005174_abnormal_tail_pigmentation	1.06043908
71	MP0005448_abnormal_energy_balance	1.05662757
72	MP0004043_abnormal_pH_regulation	1.03989624
73	MP0006276_abnormal_autonomic_nervous	1.03843986
74	MP0002733_abnormal_thermal_nociception	1.03407379
75	MP0009780_abnormal_chondrocyte_physiolo	0.99093981
76	MP0002735_abnormal_chemical_nociception	0.98825682
77	MP0005195_abnormal_posterior_eye	0.97214368
78	MP0004215_abnormal_myocardial_fiber	0.94611458
79	MP0005499_abnormal_olfactory_system	0.93703335
80	MP0005394_taste/olfaction_phenotype	0.93703335
81	MP0005365_abnormal_bile_salt	0.93508122
82	MP0002067_abnormal_sensory_capabilities	0.91045764
83	MP0008775_abnormal_heart_ventricle	0.89936814
84	MP0002063_abnormal_learning/memory/cond	0.89522395
85	MP0000230_abnormal_systemic_arterial	0.88018530
86	MP0001764_abnormal_homeostasis	0.87868395
87	MP0008995_early_reproductive_senescence	0.86684380
88	MP0000372_irregular_coat_pigmentation	0.86389998
89	MP0002095_abnormal_skin_pigmentation	0.84547395
90	MP0005075_abnormal_melanosome_morpholog	0.84070921
91	MP0002229_neurodegeneration	0.82540068
92	MP0001324_abnormal_eye_pigmentation	0.81740417
93	MP0005636_abnormal_mineral_homeostasis	0.80372312
94	MP0005220_abnormal_exocrine_pancreas	0.80206817
95	MP0001756_abnormal_urination	0.77717168
96	MP0002734_abnormal_mechanical_nocicepti	0.77581644
97	MP0005167_abnormal_blood-brain_barrier	0.77096665
98	MP0005410_abnormal_fertilization	0.76252781
99	MP0000026_abnormal_inner_ear	0.75845907
100	MP0003635_abnormal_synaptic_transmissio	0.75077665

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.03355527
2	Molar tooth sign on MRI (HP:0002419)	3.94628159
3	Abnormality of midbrain morphology (HP:0002418)	3.94628159
4	Congenital stationary night blindness (HP:0007642)	3.79086556
5	Large for gestational age (HP:0001520)	3.70731258
6	Type II lissencephaly (HP:0007260)	3.58429480
7	Pancreatic fibrosis (HP:0100732)	3.55755036
8	Nephronophthisis (HP:0000090)	3.51785237
9	True hermaphroditism (HP:0010459)	3.34316870
10	Medial flaring of the eyebrow (HP:0010747)	3.18538963
11	Abnormality of the renal medulla (HP:0100957)	3.04962560
12	Methylmalonic acidemia (HP:0002912)	3.04727102
13	Abnormality of the renal cortex (HP:0011035)	2.89610317
14	Attenuation of retinal blood vessels (HP:0007843)	2.86783915
15	Abnormal rod and cone electroretinograms (HP:0008323)	2.68574959
16	Ketoacidosis (HP:0001993)	2.64149288
17	Abolished electroretinogram (ERG) (HP:0000550)	2.58201932
18	Gait imbalance (HP:0002141)	2.57435944
19	Congenital primary aphakia (HP:0007707)	2.49510389
20	Congenital, generalized hypertrichosis (HP:0004540)	2.43975735
21	Inability to walk (HP:0002540)	2.41929916
22	Tubular atrophy (HP:0000092)	2.39072676
23	Methylmalonic aciduria (HP:0012120)	2.38989151
24	Cystic liver disease (HP:0006706)	2.37225530
25	Pendular nystagmus (HP:0012043)	2.36759592
26	Furrowed tongue (HP:0000221)	2.36504559
27	Ketosis (HP:0001946)	2.35580614
28	Polydipsia (HP:0001959)	2.33291559
29	Abnormal drinking behavior (HP:0030082)	2.33291559
30	Hyperventilation (HP:0002883)	2.33047184
31	Abnormality of alanine metabolism (HP:0010916)	2.32455997
32	Hyperalaninemia (HP:0003348)	2.32455997
33	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.32455997
34	Hypothermia (HP:0002045)	2.29366305
35	Chronic hepatic failure (HP:0100626)	2.28882045
36	Mitochondrial inheritance (HP:0001427)	2.27538599
37	Cerebellar dysplasia (HP:0007033)	2.27011088
38	Increased corneal curvature (HP:0100692)	2.24567644
39	Keratoconus (HP:0000563)	2.24567644
40	Nephrogenic diabetes insipidus (HP:0009806)	2.20130883
41	Acute necrotizing encephalopathy (HP:0006965)	2.20114358
42	Stomatitis (HP:0010280)	2.16929719
43	Hyperinsulinemic hypoglycemia (HP:0000825)	2.15798066
44	Abnormality of the pons (HP:0007361)	2.14605880
45	Increased CSF lactate (HP:0002490)	2.14305151
46	Increased hepatocellular lipid droplets (HP:0006565)	2.13863383
47	Hyperglycemia (HP:0003074)	2.13583817
48	Lissencephaly (HP:0001339)	2.13512792
49	Sclerocornea (HP:0000647)	2.12013777
50	Duplicated collecting system (HP:0000081)	2.11684842
51	Absent/shortened dynein arms (HP:0200106)	2.11416374
52	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.11416374
53	Progressive inability to walk (HP:0002505)	2.10008013
54	Lipid accumulation in hepatocytes (HP:0006561)	2.08538639
55	Abnormality of vitamin B metabolism (HP:0004340)	2.07762712
56	Abnormality of the renal collecting system (HP:0004742)	2.05496921
57	Progressive macrocephaly (HP:0004481)	2.05333579
58	Hyperglycinuria (HP:0003108)	2.03650221
59	Decreased central vision (HP:0007663)	2.02338865
60	Hypoplasia of the pons (HP:0012110)	2.01439255
61	Hemiparesis (HP:0001269)	2.00888449
62	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.96894609
63	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.96894609
64	Abnormality of proline metabolism (HP:0010907)	1.96173739
65	Hydroxyprolinuria (HP:0003080)	1.96173739
66	Abnormal respiratory motile cilium morphology (HP:0005938)	1.96001879
67	Abnormal respiratory epithelium morphology (HP:0012253)	1.96001879
68	Poor coordination (HP:0002370)	1.94567465
69	Abnormal mitochondria in muscle tissue (HP:0008316)	1.94087702
70	Polyuria (HP:0000103)	1.93432164
71	Male pseudohermaphroditism (HP:0000037)	1.92322474
72	Gaze-evoked nystagmus (HP:0000640)	1.88964779
73	Renal cortical cysts (HP:0000803)	1.86854513
74	Optic disc pallor (HP:0000543)	1.86622873
75	Abnormality of DNA repair (HP:0003254)	1.85647029
76	Acute encephalopathy (HP:0006846)	1.83576631
77	Abnormality of serine family amino acid metabolism (HP:0010894)	1.83301514
78	Abnormality of glycine metabolism (HP:0010895)	1.83301514
79	Genital tract atresia (HP:0001827)	1.83282641
80	Agitation (HP:0000713)	1.83282122
81	Hypsarrhythmia (HP:0002521)	1.82014187
82	Chorioretinal atrophy (HP:0000533)	1.81356624
83	Anterior segment dysgenesis (HP:0007700)	1.81193905
84	Absent thumb (HP:0009777)	1.80895472
85	Vaginal atresia (HP:0000148)	1.80819033
86	Broad-based gait (HP:0002136)	1.79927989
87	Renal Fanconi syndrome (HP:0001994)	1.78859219
88	Progressive cerebellar ataxia (HP:0002073)	1.78584624
89	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.78231704
90	Severe muscular hypotonia (HP:0006829)	1.77874345
91	Retinal dysplasia (HP:0007973)	1.77785089
92	Anencephaly (HP:0002323)	1.77587982
93	Hypomagnesemia (HP:0002917)	1.76213081
94	EEG with generalized epileptiform discharges (HP:0011198)	1.76158465
95	Constricted visual fields (HP:0001133)	1.75429886
96	Bony spicule pigmentary retinopathy (HP:0007737)	1.75021321
97	Pachygyria (HP:0001302)	1.75007828
98	Epileptiform EEG discharges (HP:0011182)	1.72592451
99	Clumsiness (HP:0002312)	1.71649652
100	Congenital hepatic fibrosis (HP:0002612)	1.71201684

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.33575417
2	TLK1	3.97433445
3	ADRBK2	3.33219525
4	GRK1	2.96550127
5	WNK3	2.79493952
6	TXK	2.51743210
7	BMPR1B	2.48345963
8	WNK4	2.32515880
9	INSRR	2.10735519
10	ZAK	2.10698250
11	PIK3CA	1.96276648
12	OXSR1	1.94815276
13	ACVR1B	1.89374777
14	MAP4K2	1.84473394
15	CAMKK2	1.83115028
16	STK39	1.66954963
17	MAP3K4	1.61912428
18	PINK1	1.61461756
19	NUAK1	1.59423896
20	MAPK13	1.55055616
21	MST4	1.49140029
22	GRK7	1.33723820
23	PNCK	1.33112776
24	PAK3	1.29583283
25	DAPK2	1.28378394
26	PHKG2	1.27322251
27	PHKG1	1.27322251
28	NTRK3	1.25389517
29	FGFR2	1.20981727
30	ADRBK1	1.20468400
31	CASK	1.19699280
32	PRKCG	1.19508762
33	TRIM28	1.17497485
34	EIF2AK3	1.15699721
35	PRKCE	1.12881020
36	BCKDK	1.09296225
37	TAOK3	1.08876552
38	MAP2K6	1.08699016
39	TSSK6	1.06117841
40	MAP2K7	0.97836172
41	MUSK	0.94098296
42	KIT	0.94078008
43	BRSK2	0.90934814
44	MAPKAPK3	0.90830003
45	MAPK15	0.88761839
46	ERBB3	0.83890913
47	IKBKB	0.82252662
48	MAP2K2	0.81858987
49	WEE1	0.81659201
50	NTRK2	0.80797008
51	MARK1	0.80474471
52	TNIK	0.78100302
53	MKNK2	0.77603641
54	CSNK1G2	0.76516312
55	VRK1	0.73556947
56	NME1	0.68870625
57	TGFBR1	0.67983542
58	PASK	0.63319696
59	CSNK1A1L	0.62019383
60	DYRK2	0.61052049
61	CSNK1G3	0.60168035
62	PLK2	0.60011739
63	CSNK1G1	0.59637789
64	TEC	0.57911983
65	PRKACA	0.55433189
66	EPHA4	0.54344256
67	CAMK2A	0.51651456
68	EIF2AK2	0.50783337
69	STK11	0.50479957
70	ITK	0.48798682
71	STK3	0.48365221
72	PRKCI	0.47976554
73	PTK2B	0.46217279
74	MAP2K4	0.46012932
75	PLK3	0.45769555
76	PRKCQ	0.44665792
77	CAMK1	0.44640155
78	TIE1	0.43917168
79	CSNK1A1	0.43188023
80	NLK	0.42878391
81	CAMK1D	0.42269438
82	PRKCA	0.41780557
83	SYK	0.41036742
84	PRKAA1	0.40612255
85	CDK19	0.40460709
86	GRK5	0.40007078
87	TNK2	0.39492592
88	IGF1R	0.39424029
89	PRKCH	0.38715472
90	GRK6	0.38023476
91	PRKD3	0.36891640
92	CAMK2D	0.36331538
93	OBSCN	0.34807917
94	CHUK	0.34180848
95	CSNK1D	0.34173123
96	CAMKK1	0.33639912
97	PRKG1	0.33478868
98	RPS6KA5	0.32075857
99	PRKCZ	0.29808537
100	MAP2K1	0.28399637

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.26609490
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.58986261
3	Linoleic acid metabolism_Homo sapiens_hsa00591	2.51109212
4	Caffeine metabolism_Homo sapiens_hsa00232	2.48395563
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.48205917
6	Phototransduction_Homo sapiens_hsa04744	2.46966118
7	Butanoate metabolism_Homo sapiens_hsa00650	2.31463434
8	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.25120050
9	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.19107275
10	Protein export_Homo sapiens_hsa03060	2.18190957
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.14883460
12	Tryptophan metabolism_Homo sapiens_hsa00380	2.07031254
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.07030147
14	Selenocompound metabolism_Homo sapiens_hsa00450	2.03619418
15	Nitrogen metabolism_Homo sapiens_hsa00910	2.02563827
16	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.85207028
17	Ether lipid metabolism_Homo sapiens_hsa00565	1.73926178
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.69250419
19	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.68875328
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.67432709
21	Nicotine addiction_Homo sapiens_hsa05033	1.64140309
22	Parkinsons disease_Homo sapiens_hsa05012	1.62893569
23	RNA polymerase_Homo sapiens_hsa03020	1.58899592
24	Basal transcription factors_Homo sapiens_hsa03022	1.53241951
25	Type I diabetes mellitus_Homo sapiens_hsa04940	1.43842459
26	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.42089896
27	Insulin secretion_Homo sapiens_hsa04911	1.39610321
28	Regulation of autophagy_Homo sapiens_hsa04140	1.37912597
29	Fanconi anemia pathway_Homo sapiens_hsa03460	1.37015914
30	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.35693226
31	Peroxisome_Homo sapiens_hsa04146	1.33333632
32	Homologous recombination_Homo sapiens_hsa03440	1.31863072
33	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.31809739
34	Collecting duct acid secretion_Homo sapiens_hsa04966	1.29885862
35	Sulfur metabolism_Homo sapiens_hsa00920	1.21572591
36	ABC transporters_Homo sapiens_hsa02010	1.20226435
37	RNA degradation_Homo sapiens_hsa03018	1.15757508
38	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.15240408
39	Chemical carcinogenesis_Homo sapiens_hsa05204	1.14908935
40	Cardiac muscle contraction_Homo sapiens_hsa04260	1.14179498
41	Taste transduction_Homo sapiens_hsa04742	1.08597402
42	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.08348150
43	Propanoate metabolism_Homo sapiens_hsa00640	1.05026433
44	One carbon pool by folate_Homo sapiens_hsa00670	1.02431818
45	Alzheimers disease_Homo sapiens_hsa05010	0.99112085
46	Huntingtons disease_Homo sapiens_hsa05016	0.98525107
47	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.98153523
48	Retinol metabolism_Homo sapiens_hsa00830	0.96066725
49	Sulfur relay system_Homo sapiens_hsa04122	0.94677245
50	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.92673562
51	Olfactory transduction_Homo sapiens_hsa04740	0.91605562
52	Morphine addiction_Homo sapiens_hsa05032	0.91290950
53	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.90603815
54	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.89088379
55	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.88554631
56	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.86098509
57	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.83626292
58	Serotonergic synapse_Homo sapiens_hsa04726	0.78571802
59	Proteasome_Homo sapiens_hsa03050	0.77962537
60	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.77856503
61	Mineral absorption_Homo sapiens_hsa04978	0.76864945
62	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.75810862
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.75092923
64	GABAergic synapse_Homo sapiens_hsa04727	0.70262657
65	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.69346385
66	Circadian entrainment_Homo sapiens_hsa04713	0.68412385
67	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.66480716
68	Rheumatoid arthritis_Homo sapiens_hsa05323	0.64957127
69	Metabolic pathways_Homo sapiens_hsa01100	0.61448091
70	Primary immunodeficiency_Homo sapiens_hsa05340	0.61060108
71	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.60906273
72	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60253361
73	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.59019201
74	Allograft rejection_Homo sapiens_hsa05330	0.55685861
75	Fat digestion and absorption_Homo sapiens_hsa04975	0.55662727
76	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.55500339
77	Glycerolipid metabolism_Homo sapiens_hsa00561	0.54414512
78	Purine metabolism_Homo sapiens_hsa00230	0.54265658
79	Type II diabetes mellitus_Homo sapiens_hsa04930	0.54264600
80	Graft-versus-host disease_Homo sapiens_hsa05332	0.54182728
81	Asthma_Homo sapiens_hsa05310	0.54052754
82	Histidine metabolism_Homo sapiens_hsa00340	0.52604746
83	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.52345638
84	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.51944245
85	Folate biosynthesis_Homo sapiens_hsa00790	0.50820583
86	Glutamatergic synapse_Homo sapiens_hsa04724	0.50642670
87	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.50194121
88	Circadian rhythm_Homo sapiens_hsa04710	0.48761312
89	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.48198136
90	Salivary secretion_Homo sapiens_hsa04970	0.47971452
91	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.44423941
92	African trypanosomiasis_Homo sapiens_hsa05143	0.42954803
93	Calcium signaling pathway_Homo sapiens_hsa04020	0.40218307
94	Fatty acid elongation_Homo sapiens_hsa00062	0.37917229
95	Pyrimidine metabolism_Homo sapiens_hsa00240	0.36244984
96	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.35000312
97	Dopaminergic synapse_Homo sapiens_hsa04728	0.33300109
98	Renin secretion_Homo sapiens_hsa04924	0.31383592
99	Nucleotide excision repair_Homo sapiens_hsa03420	0.30954956
100	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.30000677

PMCHL2

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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