ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein complex biogenesis (GO:0070271)	5.93284989
2	mitochondrial respiratory chain complex I assembly (GO:0032981)	5.76732098
3	NADH dehydrogenase complex assembly (GO:0010257)	5.76732098
4	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	5.76732098
5	mitochondrial respiratory chain complex assembly (GO:0033108)	5.45891981
6	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.50338533
7	sequestering of actin monomers (GO:0042989)	4.41243538
8	aggressive behavior (GO:0002118)	4.19504337
9	sulfation (GO:0051923)	4.15872608
10	ATP synthesis coupled proton transport (GO:0015986)	4.11738479
11	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.11738479
12	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	4.05189560
13	DNA deamination (GO:0045006)	4.03994170
14	ribosomal small subunit assembly (GO:0000028)	4.00489903
15	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.99401557
16	regulation of mitochondrial translation (GO:0070129)	3.94232150
17	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.85009788
18	negative regulation of telomere maintenance (GO:0032205)	3.79727838
19	mannosylation (GO:0097502)	3.76655270
20	respiratory electron transport chain (GO:0022904)	3.72852940
21	electron transport chain (GO:0022900)	3.69616576
22	seminiferous tubule development (GO:0072520)	3.66829414
23	* mismatch repair (GO:0006298)	3.65825954
24	behavioral response to nicotine (GO:0035095)	3.50133803
25	negative regulation of B cell apoptotic process (GO:0002903)	3.49515701
26	platelet dense granule organization (GO:0060155)	3.48406101
27	pseudouridine synthesis (GO:0001522)	3.47466053
28	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.41645763
29	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.41645763
30	positive regulation of prostaglandin secretion (GO:0032308)	3.40730743
31	chaperone-mediated protein transport (GO:0072321)	3.40679525
32	deoxyribonucleotide catabolic process (GO:0009264)	3.37696231
33	intraciliary transport (GO:0042073)	3.33654719
34	cellular response to interferon-beta (GO:0035458)	3.29029152
35	respiratory chain complex IV assembly (GO:0008535)	3.28466640
36	purine deoxyribonucleotide catabolic process (GO:0009155)	3.26808245
37	cytochrome complex assembly (GO:0017004)	3.25759316
38	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.25093707
39	purine nucleotide salvage (GO:0032261)	3.25014301
40	adenosine metabolic process (GO:0046085)	3.23230570
41	preassembly of GPI anchor in ER membrane (GO:0016254)	3.21034724
42	viral mRNA export from host cell nucleus (GO:0046784)	3.19227664
43	oxidative phosphorylation (GO:0006119)	3.16062439
44	deoxyribose phosphate catabolic process (GO:0046386)	3.15748025
45	water-soluble vitamin biosynthetic process (GO:0042364)	3.14153853
46	viral transcription (GO:0019083)	3.13397922
47	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	3.11247832
48	pyrimidine nucleotide catabolic process (GO:0006244)	3.09776205
49	translational termination (GO:0006415)	3.07868484
50	ubiquinone biosynthetic process (GO:0006744)	3.05981141
51	rRNA modification (GO:0000154)	3.01105610
52	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.99963132
53	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.95849336
54	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	2.94065551
55	response to interferon-beta (GO:0035456)	2.93374003
56	purine-containing compound salvage (GO:0043101)	2.92579290
57	DNA integration (GO:0015074)	2.91231047
58	protein localization to cilium (GO:0061512)	2.90371846
59	DNA double-strand break processing (GO:0000729)	2.88678730
60	GMP metabolic process (GO:0046037)	2.88116681
61	base-excision repair, AP site formation (GO:0006285)	2.88029928
62	peptidyl-histidine modification (GO:0018202)	2.85588626
63	protein neddylation (GO:0045116)	2.85579222
64	grooming behavior (GO:0007625)	2.83635530
65	tRNA modification (GO:0006400)	2.82651249
66	purine deoxyribonucleotide metabolic process (GO:0009151)	2.81224470
67	DNA catabolic process, exonucleolytic (GO:0000738)	2.79703922
68	GPI anchor metabolic process (GO:0006505)	2.79455517
69	ubiquinone metabolic process (GO:0006743)	2.78943295
70	maturation of SSU-rRNA (GO:0030490)	2.77547345
71	2-deoxyribonucleotide metabolic process (GO:0009394)	2.75528779
72	regulation of cilium movement (GO:0003352)	2.74942073
73	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.74764469
74	inner mitochondrial membrane organization (GO:0007007)	2.72398381
75	cotranslational protein targeting to membrane (GO:0006613)	2.70600401
76	GPI anchor biosynthetic process (GO:0006506)	2.68764172
77	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.68518698
78	positive regulation of mitochondrial fission (GO:0090141)	2.66598060
79	DNA dealkylation (GO:0035510)	2.65800902
80	regulation of penile erection (GO:0060405)	2.65074118
81	translational elongation (GO:0006414)	2.65063723
82	tRNA processing (GO:0008033)	2.64146611
83	protein targeting to ER (GO:0045047)	2.63707388
84	iron-sulfur cluster assembly (GO:0016226)	2.62437742
85	metallo-sulfur cluster assembly (GO:0031163)	2.62437742
86	hydrogen ion transmembrane transport (GO:1902600)	2.62110812
87	DNA demethylation (GO:0080111)	2.60897954
88	mitochondrial RNA metabolic process (GO:0000959)	2.59882959
89	deoxyribose phosphate metabolic process (GO:0019692)	2.57038534
90	protein deneddylation (GO:0000338)	2.54342782
91	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.52167008
92	termination of RNA polymerase III transcription (GO:0006386)	2.52167008
93	protein localization to endoplasmic reticulum (GO:0070972)	2.51748384
94	proton transport (GO:0015992)	2.51068438
95	cellular response to exogenous dsRNA (GO:0071360)	2.50948817
96	cullin deneddylation (GO:0010388)	2.50815309
97	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.50394935
98	establishment of protein localization to endoplasmic reticulum (GO:0072599)	2.50008656
99	C-terminal protein lipidation (GO:0006501)	2.49741970
100	cellular component biogenesis (GO:0044085)	2.48881027

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	4.26747223
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.97420543
3	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.87760922
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.82658561
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.65951695
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.63362650
7	ZNF274_21170338_ChIP-Seq_K562_Hela	3.35581637
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.92603939
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.82224736
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.82170306
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.70810378
12	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.69649539
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.63796413
14	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.60482235
15	ELK1_19687146_ChIP-ChIP_HELA_Human	2.52232738
16	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.50934350
17	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.47671265
18	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.28328097
19	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.26371313
20	FOXP3_21729870_ChIP-Seq_TREG_Human	2.19977075
21	MYC_18940864_ChIP-ChIP_HL60_Human	2.02621641
22	VDR_22108803_ChIP-Seq_LS180_Human	1.97534335
23	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.91241526
24	FUS_26573619_Chip-Seq_HEK293_Human	1.90367213
25	EWS_26573619_Chip-Seq_HEK293_Human	1.84370561
26	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.78026339
27	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.75906013
28	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.70039462
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.69572760
30	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.66301731
31	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.61733120
32	CIITA_25753668_ChIP-Seq_RAJI_Human	1.58744866
33	TTF2_22483619_ChIP-Seq_HELA_Human	1.58196565
34	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.54875751
35	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.49569685
36	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.45574735
37	TAF15_26573619_Chip-Seq_HEK293_Human	1.43093889
38	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.42038706
39	XRN2_22483619_ChIP-Seq_HELA_Human	1.41598081
40	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.40887811
41	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.40752580
42	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.39952550
43	GABP_19822575_ChIP-Seq_HepG2_Human	1.39433251
44	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.37014749
45	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.36857591
46	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.36209133
47	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.33468170
48	GBX2_23144817_ChIP-Seq_PC3_Human	1.32332936
49	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.31247188
50	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.30915885
51	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.30845100
52	DCP1A_22483619_ChIP-Seq_HELA_Human	1.30489142
53	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.30318414
54	TP53_22573176_ChIP-Seq_HFKS_Human	1.25462390
55	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.24493911
56	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.23308811
57	P300_19829295_ChIP-Seq_ESCs_Human	1.21447288
58	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.15816366
59	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.15283945
60	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.12531793
61	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.12299686
62	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.10928553
63	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.10197466
64	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.10152659
65	SOX2_16153702_ChIP-ChIP_HESCs_Human	1.09727448
66	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09179339
67	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.08160524
68	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.07523320
69	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.07089011
70	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.06693737
71	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.06233565
72	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.05869549
73	AR_20517297_ChIP-Seq_VCAP_Human	1.05416273
74	RNF2_27304074_Chip-Seq_NSC_Mouse	1.04413514
75	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.04135420
76	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.03905732
77	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.02289627
78	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.01007431
79	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.01007431
80	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.99402265
81	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.98411546
82	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.97982828
83	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.97794491
84	CBP_20019798_ChIP-Seq_JUKART_Human	0.97794491
85	ERG_20517297_ChIP-Seq_VCAP_Human	0.96773662
86	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.96105665
87	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	0.96100706
88	SOX2_19829295_ChIP-Seq_ESCs_Human	0.92367169
89	NANOG_19829295_ChIP-Seq_ESCs_Human	0.92367169
90	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.91813646
91	NCOR_22424771_ChIP-Seq_293T_Human	0.91660554
92	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.91359425
93	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.90382421
94	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	0.88847540
95	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.88839620
96	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.88375125
97	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.87610155
98	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.87329174
99	EZH2_22144423_ChIP-Seq_EOC_Human	0.85843955
100	ER_23166858_ChIP-Seq_MCF-7_Human	0.85404776

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000372_irregular_coat_pigmentation	3.12576978
2	MP0008058_abnormal_DNA_repair	2.95791713
3	MP0009697_abnormal_copulation	2.93422894
4	MP0003136_yellow_coat_color	2.70946132
5	MP0006072_abnormal_retinal_apoptosis	2.70285947
6	MP0006292_abnormal_olfactory_placode	2.65847437
7	MP0005646_abnormal_pituitary_gland	2.65155740
8	MP0001529_abnormal_vocalization	2.38833652
9	MP0005084_abnormal_gallbladder_morpholo	2.37318986
10	MP0005645_abnormal_hypothalamus_physiol	2.29616303
11	MP0009379_abnormal_foot_pigmentation	2.24850488
12	MP0001968_abnormal_touch/_nociception	2.16270692
13	MP0004142_abnormal_muscle_tone	1.98440604
14	MP0008877_abnormal_DNA_methylation	1.94030948
15	MP0003718_maternal_effect	1.91203883
16	MP0008995_early_reproductive_senescence	1.88522906
17	MP0003880_abnormal_central_pattern	1.88189338
18	MP0002938_white_spotting	1.84098016
19	MP0006276_abnormal_autonomic_nervous	1.82477910
20	MP0001905_abnormal_dopamine_level	1.73320856
21	MP0002653_abnormal_ependyma_morphology	1.73300085
22	MP0008872_abnormal_physiological_respon	1.71424267
23	MP0002736_abnormal_nociception_after	1.68494195
24	MP0008789_abnormal_olfactory_epithelium	1.67646815
25	MP0005253_abnormal_eye_physiology	1.67258342
26	MP0001986_abnormal_taste_sensitivity	1.56728825
27	MP0000631_abnormal_neuroendocrine_gland	1.56390673
28	MP0005397_hematopoietic_system_phenotyp	1.51256413
29	MP0001545_abnormal_hematopoietic_system	1.51256413
30	MP0005551_abnormal_eye_electrophysiolog	1.50007109
31	MP0004147_increased_porphyrin_level	1.49814632
32	MP0003693_abnormal_embryo_hatching	1.48484843
33	MP0003806_abnormal_nucleotide_metabolis	1.48309595
34	MP0000516_abnormal_urinary_system	1.45191441
35	MP0005367_renal/urinary_system_phenotyp	1.45191441
36	MP0005174_abnormal_tail_pigmentation	1.41404390
37	MP0000569_abnormal_digit_pigmentation	1.39918155
38	MP0006036_abnormal_mitochondrial_physio	1.39401363
39	MP0006035_abnormal_mitochondrial_morpho	1.36027113
40	MP0002095_abnormal_skin_pigmentation	1.35651936
41	MP0002102_abnormal_ear_morphology	1.34887144
42	MP0003786_premature_aging	1.30433645
43	MP0002735_abnormal_chemical_nociception	1.25127803
44	MP0001764_abnormal_homeostasis	1.21102432
45	MP0008875_abnormal_xenobiotic_pharmacok	1.20357469
46	MP0005499_abnormal_olfactory_system	1.20351425
47	MP0005394_taste/olfaction_phenotype	1.20351425
48	MP0009278_abnormal_bone_marrow	1.18718934
49	MP0005410_abnormal_fertilization	1.17911676
50	MP0005075_abnormal_melanosome_morpholog	1.17389683
51	MP0009046_muscle_twitch	1.16665913
52	MP0002234_abnormal_pharynx_morphology	1.15506719
53	MP0003787_abnormal_imprinting	1.15254414
54	MP0002272_abnormal_nervous_system	1.14830431
55	MP0001984_abnormal_olfaction	1.13967193
56	MP0002138_abnormal_hepatobiliary_system	1.13446596
57	MP0002822_catalepsy	1.12258516
58	MP0003186_abnormal_redox_activity	1.09913952
59	MP0005423_abnormal_somatic_nervous	1.01954576
60	MP0001293_anophthalmia	1.00508005
61	MP0010094_abnormal_chromosome_stability	0.99295089
62	MP0001486_abnormal_startle_reflex	0.96926227
63	MP0002160_abnormal_reproductive_system	0.96687140
64	MP0002837_dystrophic_cardiac_calcinosis	0.96304640
65	MP0009745_abnormal_behavioral_response	0.94930395
66	MP0002132_abnormal_respiratory_system	0.93522734
67	MP0003121_genomic_imprinting	0.91680860
68	MP0002572_abnormal_emotion/affect_behav	0.91158232
69	MP0002638_abnormal_pupillary_reflex	0.89049285
70	MP0002557_abnormal_social/conspecific_i	0.88089680
71	MP0003252_abnormal_bile_duct	0.87436058
72	MP0005171_absent_coat_pigmentation	0.87368696
73	MP0000653_abnormal_sex_gland	0.85826576
74	MP0002928_abnormal_bile_duct	0.85643078
75	MP0004885_abnormal_endolymph	0.85013998
76	MP0004133_heterotaxia	0.84393760
77	MP0001929_abnormal_gametogenesis	0.83982965
78	MP0002282_abnormal_trachea_morphology	0.83854861
79	MP0003698_abnormal_male_reproductive	0.83595601
80	MP0004043_abnormal_pH_regulation	0.82828678
81	MP0002751_abnormal_autonomic_nervous	0.82680756
82	MP0001485_abnormal_pinna_reflex	0.81991685
83	MP0001119_abnormal_female_reproductive	0.81364383
84	MP0002733_abnormal_thermal_nociception	0.80476862
85	MP0004145_abnormal_muscle_electrophysio	0.79437976
86	MP0005389_reproductive_system_phenotype	0.78389876
87	MP0010386_abnormal_urinary_bladder	0.77748631
88	MP0009765_abnormal_xenobiotic_induced	0.75119382
89	MP0005220_abnormal_exocrine_pancreas	0.74300518
90	MP0000383_abnormal_hair_follicle	0.73362334
91	MP0000465_gastrointestinal_hemorrhage	0.72868634
92	MP0001145_abnormal_male_reproductive	0.72736355
93	MP0000230_abnormal_systemic_arterial	0.72429091
94	MP0005266_abnormal_metabolism	0.71298713
95	MP0000015_abnormal_ear_pigmentation	0.70800289
96	MP0003724_increased_susceptibility_to	0.70574261
97	MP0001970_abnormal_pain_threshold	0.68479948
98	MP0005636_abnormal_mineral_homeostasis	0.67721192
99	MP0002064_seizures	0.67277323
100	MP0009764_decreased_sensitivity_to	0.66682593

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hepatocellular necrosis (HP:0001404)	4.76730130
2	Mitochondrial inheritance (HP:0001427)	4.60080827
3	Hepatic necrosis (HP:0002605)	4.38241280
4	Abnormal mitochondria in muscle tissue (HP:0008316)	4.24110531
5	Acute necrotizing encephalopathy (HP:0006965)	4.20105120
6	Increased CSF lactate (HP:0002490)	3.87720811
7	Increased hepatocellular lipid droplets (HP:0006565)	3.75481614
8	Acute encephalopathy (HP:0006846)	3.64012536
9	Lipid accumulation in hepatocytes (HP:0006561)	3.62877444
10	Increased intramyocellular lipid droplets (HP:0012240)	3.55586521
11	Progressive macrocephaly (HP:0004481)	3.48265963
12	Pancreatic fibrosis (HP:0100732)	3.47625495
13	Abnormal number of erythroid precursors (HP:0012131)	3.44898190
14	Renal Fanconi syndrome (HP:0001994)	3.38065092
15	Aplastic anemia (HP:0001915)	3.34064048
16	Pancreatic cysts (HP:0001737)	3.25676121
17	Increased muscle lipid content (HP:0009058)	3.10419998
18	Oral leukoplakia (HP:0002745)	3.06982916
19	Type I transferrin isoform profile (HP:0003642)	3.02829372
20	True hermaphroditism (HP:0010459)	2.99731559
21	Abolished electroretinogram (ERG) (HP:0000550)	2.85781144
22	Cerebral edema (HP:0002181)	2.82371578
23	Abnormality of cells of the erythroid lineage (HP:0012130)	2.82093773
24	3-Methylglutaconic aciduria (HP:0003535)	2.81905360
25	Nephronophthisis (HP:0000090)	2.81124066
26	Abnormal protein glycosylation (HP:0012346)	2.80476803
27	Abnormal glycosylation (HP:0012345)	2.80476803
28	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.80476803
29	Abnormal protein N-linked glycosylation (HP:0012347)	2.80476803
30	Lactic acidosis (HP:0003128)	2.79175530
31	Increased serum lactate (HP:0002151)	2.70908016
32	Microvesicular hepatic steatosis (HP:0001414)	2.69681474
33	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.67160608
34	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.67160608
35	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.65436745
36	Medial flaring of the eyebrow (HP:0010747)	2.60517978
37	Methylmalonic acidemia (HP:0002912)	2.59396588
38	Congenital, generalized hypertrichosis (HP:0004540)	2.53630511
39	Decreased central vision (HP:0007663)	2.48759266
40	Exercise intolerance (HP:0003546)	2.43269852
41	Pancytopenia (HP:0001876)	2.43071808
42	Attenuation of retinal blood vessels (HP:0007843)	2.42339532
43	Hyperglycinemia (HP:0002154)	2.38353799
44	Optic disc pallor (HP:0000543)	2.37059945
45	Reticulocytopenia (HP:0001896)	2.36115873
46	Exertional dyspnea (HP:0002875)	2.35580387
47	Congenital stationary night blindness (HP:0007642)	2.33972498
48	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.33734051
49	Dicarboxylic aciduria (HP:0003215)	2.33734051
50	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.28353100
51	Abnormality of the renal medulla (HP:0100957)	2.23242468
52	Respiratory failure (HP:0002878)	2.21963703
53	Molar tooth sign on MRI (HP:0002419)	2.21503160
54	Abnormality of midbrain morphology (HP:0002418)	2.21503160
55	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.21498926
56	Methylmalonic aciduria (HP:0012120)	2.19232654
57	Reduced antithrombin III activity (HP:0001976)	2.19023779
58	Panhypogammaglobulinemia (HP:0003139)	2.18993647
59	Short tibia (HP:0005736)	2.16387131
60	Colon cancer (HP:0003003)	2.11225602
61	Congenital hepatic fibrosis (HP:0002612)	2.08736685
62	Elevated erythrocyte sedimentation rate (HP:0003565)	2.06128229
63	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.05402294
64	Abnormality of B cell number (HP:0010975)	2.04005793
65	Bile duct proliferation (HP:0001408)	2.01979153
66	Abnormal biliary tract physiology (HP:0012439)	2.01979153
67	Severe combined immunodeficiency (HP:0004430)	2.00810928
68	Thrombocytosis (HP:0001894)	2.00306630
69	Abnormality of renal resorption (HP:0011038)	1.98072108
70	Abnormal rod and cone electroretinograms (HP:0008323)	1.97761525
71	Ketosis (HP:0001946)	1.96524774
72	CNS demyelination (HP:0007305)	1.96285901
73	B lymphocytopenia (HP:0010976)	1.95625253
74	Lethargy (HP:0001254)	1.93476295
75	Abnormality of the phalanges of the 2nd finger (HP:0009541)	1.92230217
76	Abnormality of the prostate (HP:0008775)	1.89895018
77	Congenital primary aphakia (HP:0007707)	1.89393350
78	Emotional lability (HP:0000712)	1.88154630
79	Generalized aminoaciduria (HP:0002909)	1.86473518
80	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.85326241
81	Cystic liver disease (HP:0006706)	1.84982243
82	Sclerocornea (HP:0000647)	1.83306517
83	Abnormality of DNA repair (HP:0003254)	1.81312070
84	Gait imbalance (HP:0002141)	1.80661858
85	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.80226267
86	Prostate neoplasm (HP:0100787)	1.79761183
87	Ketoacidosis (HP:0001993)	1.77162345
88	Concave nail (HP:0001598)	1.75666531
89	Leukodystrophy (HP:0002415)	1.73543090
90	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.73393994
91	Nephrogenic diabetes insipidus (HP:0009806)	1.72230996
92	Agammaglobulinemia (HP:0004432)	1.71434052
93	Retinitis pigmentosa (HP:0000510)	1.71361639
94	Postaxial foot polydactyly (HP:0001830)	1.70882871
95	Hypothermia (HP:0002045)	1.68323075
96	Abnormality of the proximal phalanges of the hand (HP:0009834)	1.66658554
97	Abnormality of the renal cortex (HP:0011035)	1.66268069
98	Glycosuria (HP:0003076)	1.65114642
99	Abnormality of urine glucose concentration (HP:0011016)	1.65114642
100	Long nose (HP:0003189)	1.64382020

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	VRK2	4.66702060
2	NUAK1	3.65352296
3	MAP4K2	3.40144048
4	BCKDK	3.36723460
5	TAOK3	3.01747804
6	ZAK	2.76072062
7	VRK1	2.51531739
8	TESK2	2.11117414
9	STK16	2.02147842
10	KDR	2.00049361
11	PIM2	1.86120777
12	TLK1	1.81115167
13	PINK1	1.62151005
14	SRPK1	1.61797715
15	KIT	1.61110593
16	WNK3	1.47054927
17	NME2	1.45693254
18	CDC7	1.44805340
19	CDK19	1.40591401
20	INSRR	1.38381635
21	BUB1	1.37424831
22	FRK	1.36640361
23	ADRBK2	1.31187696
24	RPS6KA5	1.29012333
25	GRK7	1.28140149
26	FLT3	1.26119669
27	CSNK1G3	1.24173979
28	TNIK	1.23847452
29	TAF1	1.22243537
30	MAPK13	1.21078816
31	PBK	1.18755207
32	ERBB3	1.14978517
33	GRK1	1.14899484
34	DYRK2	1.11587223
35	LATS1	1.11333680
36	TIE1	1.10530818
37	TRIM28	1.05333830
38	DYRK3	0.97377861
39	CCNB1	0.95575767
40	CSNK1A1L	0.93474128
41	CSNK1G2	0.93345548
42	CSNK1G1	0.93054017
43	IKBKB	0.91701787
44	BMPR1B	0.87756121
45	CDK8	0.86288429
46	TEC	0.85550477
47	RPS6KA4	0.81480324
48	EPHA3	0.77799695
49	MAP3K4	0.76690137
50	ATR	0.76602407
51	CASK	0.76401360
52	SYK	0.76071421
53	PDK2	0.74218389
54	BCR	0.73420278
55	MKNK1	0.72505906
56	MAPKAPK5	0.71482865
57	STK38L	0.70790304
58	ADRBK1	0.68102556
59	PLK4	0.66699120
60	TBK1	0.66073195
61	PKN1	0.65662188
62	PIK3CA	0.65566874
63	MAP2K7	0.62507368
64	MAP4K1	0.62425913
65	GRK5	0.60409272
66	DAPK1	0.60222627
67	CDK9	0.56725294
68	PLK2	0.54139124
69	PLK3	0.52140699
70	EIF2AK3	0.52009245
71	MAPK15	0.51996427
72	IKBKE	0.51278633
73	OXSR1	0.49091522
74	PLK1	0.48711268
75	AURKB	0.47987514
76	SCYL2	0.47976677
77	PRKCE	0.47593773
78	PRKCQ	0.46960583
79	IRAK2	0.46481229
80	PASK	0.46151251
81	CSF1R	0.45960129
82	LYN	0.45599661
83	EIF2AK2	0.44980185
84	CSNK2A1	0.43376237
85	AURKA	0.43308866
86	IRAK1	0.43132289
87	CSNK1A1	0.41663931
88	CHEK2	0.40646066
89	BLK	0.39949766
90	CDK3	0.39241739
91	PRKACA	0.38436232
92	DAPK2	0.38353925
93	PTK2B	0.38223907
94	TNK2	0.37794288
95	PRKCG	0.37194243
96	CLK1	0.36506938
97	MUSK	0.36431621
98	EPHA4	0.35624056
99	STK4	0.35115273
100	CSNK2A2	0.34858606

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.90553484
2	Parkinsons disease_Homo sapiens_hsa05012	3.42815417
3	Ribosome_Homo sapiens_hsa03010	3.18818556
4	Proteasome_Homo sapiens_hsa03050	3.06386074
5	RNA polymerase_Homo sapiens_hsa03020	2.67898662
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.46424185
7	Huntingtons disease_Homo sapiens_hsa05016	2.30775691
8	Protein export_Homo sapiens_hsa03060	2.13469557
9	Alzheimers disease_Homo sapiens_hsa05010	2.13301925
10	Homologous recombination_Homo sapiens_hsa03440	2.12084939
11	Fanconi anemia pathway_Homo sapiens_hsa03460	1.98522114
12	Asthma_Homo sapiens_hsa05310	1.94106305
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.89591130
14	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.82224050
15	Base excision repair_Homo sapiens_hsa03410	1.80046097
16	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.76002210
17	Mismatch repair_Homo sapiens_hsa03430	1.67704280
18	Fatty acid elongation_Homo sapiens_hsa00062	1.64676928
19	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.55908661
20	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.55549953
21	Cardiac muscle contraction_Homo sapiens_hsa04260	1.53042715
22	Spliceosome_Homo sapiens_hsa03040	1.50591885
23	Primary immunodeficiency_Homo sapiens_hsa05340	1.49317460
24	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.45475551
25	Peroxisome_Homo sapiens_hsa04146	1.45049553
26	Butanoate metabolism_Homo sapiens_hsa00650	1.44854515
27	DNA replication_Homo sapiens_hsa03030	1.43341479
28	Pyrimidine metabolism_Homo sapiens_hsa00240	1.38164638
29	Non-homologous end-joining_Homo sapiens_hsa03450	1.37604403
30	Propanoate metabolism_Homo sapiens_hsa00640	1.34798907
31	Nucleotide excision repair_Homo sapiens_hsa03420	1.33198350
32	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.32647214
33	Allograft rejection_Homo sapiens_hsa05330	1.30739728
34	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.29840120
35	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.29310797
36	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.28379320
37	Nitrogen metabolism_Homo sapiens_hsa00910	1.27316035
38	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.26048405
39	Phototransduction_Homo sapiens_hsa04744	1.24520476
40	Purine metabolism_Homo sapiens_hsa00230	1.24310758
41	Graft-versus-host disease_Homo sapiens_hsa05332	1.23388845
42	RNA degradation_Homo sapiens_hsa03018	1.22901409
43	Type I diabetes mellitus_Homo sapiens_hsa04940	1.22669145
44	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.21782403
45	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.15343062
46	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.14220414
47	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.03434318
48	Selenocompound metabolism_Homo sapiens_hsa00450	1.00883079
49	One carbon pool by folate_Homo sapiens_hsa00670	0.99016849
50	Basal transcription factors_Homo sapiens_hsa03022	0.97534487
51	Rheumatoid arthritis_Homo sapiens_hsa05323	0.94362140
52	RNA transport_Homo sapiens_hsa03013	0.93971450
53	Nicotine addiction_Homo sapiens_hsa05033	0.93788354
54	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.89555167
55	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89100741
56	Glutathione metabolism_Homo sapiens_hsa00480	0.85334216
57	Taste transduction_Homo sapiens_hsa04742	0.85306477
58	Regulation of autophagy_Homo sapiens_hsa04140	0.83882467
59	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.81989417
60	Metabolic pathways_Homo sapiens_hsa01100	0.81663959
61	Sulfur relay system_Homo sapiens_hsa04122	0.80929290
62	Antigen processing and presentation_Homo sapiens_hsa04612	0.79791914
63	Collecting duct acid secretion_Homo sapiens_hsa04966	0.79360893
64	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.78734492
65	Linoleic acid metabolism_Homo sapiens_hsa00591	0.78634706
66	Folate biosynthesis_Homo sapiens_hsa00790	0.77740156
67	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.75743808
68	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.74468513
69	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.73151429
70	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.72532372
71	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.72284835
72	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.68727731
73	Tryptophan metabolism_Homo sapiens_hsa00380	0.68066040
74	Olfactory transduction_Homo sapiens_hsa04740	0.66550132
75	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.64765103
76	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.64440288
77	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.63384146
78	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.59518985
79	Caffeine metabolism_Homo sapiens_hsa00232	0.51944861
80	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.50130377
81	Alcoholism_Homo sapiens_hsa05034	0.49147819
82	Ether lipid metabolism_Homo sapiens_hsa00565	0.48845301
83	Pyruvate metabolism_Homo sapiens_hsa00620	0.48815427
84	Sulfur metabolism_Homo sapiens_hsa00920	0.47287032
85	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.44544728
86	Fatty acid metabolism_Homo sapiens_hsa01212	0.43230200
87	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.41762428
88	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.40294505
89	Tyrosine metabolism_Homo sapiens_hsa00350	0.38897729
90	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.38569209
91	Retinol metabolism_Homo sapiens_hsa00830	0.37923971
92	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.37375677
93	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.35942374
94	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.31496879
95	Salivary secretion_Homo sapiens_hsa04970	0.30934546
96	Fatty acid degradation_Homo sapiens_hsa00071	0.29275478
97	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.27305102
98	Carbon metabolism_Homo sapiens_hsa01200	0.26797346
99	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.26714327
100	Calcium signaling pathway_Homo sapiens_hsa04020	0.25074422

PMS2P2

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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