ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of glucokinase activity (GO:0033131)	6.11327717
2	regulation of hexokinase activity (GO:1903299)	6.11327717
3	lactate metabolic process (GO:0006089)	4.56882792
4	regulation of protein glycosylation (GO:0060049)	4.37635506
5	keratinocyte development (GO:0003334)	4.21004605
6	positive regulation of glycoprotein biosynthetic process (GO:0010560)	4.14419350
7	respiratory chain complex IV assembly (GO:0008535)	4.08582253
8	insulin secretion (GO:0030073)	4.02696772
9	endocrine pancreas development (GO:0031018)	3.95587110
10	water-soluble vitamin biosynthetic process (GO:0042364)	3.81907128
11	regulation of cilium movement (GO:0003352)	3.69350233
12	inositol phosphate catabolic process (GO:0071545)	3.64838234
13	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.64153340
14	inositol phosphate dephosphorylation (GO:0046855)	3.64153340
15	cytochrome complex assembly (GO:0017004)	3.63183270
16	nephron epithelium morphogenesis (GO:0072088)	3.59127711
17	nephron tubule morphogenesis (GO:0072078)	3.59127711
18	negative regulation of neurological system process (GO:0031645)	3.57955859
19	transepithelial transport (GO:0070633)	3.56193571
20	positive regulation of respiratory burst (GO:0060267)	3.55892496
21	cellular ketone body metabolic process (GO:0046950)	3.53185297
22	positive regulation of protein autophosphorylation (GO:0031954)	3.52817158
23	positive regulation of glycoprotein metabolic process (GO:1903020)	3.47250905
24	somite rostral/caudal axis specification (GO:0032525)	3.44077530
25	heme transport (GO:0015886)	3.42034869
26	transcytosis (GO:0045056)	3.32698002
27	regulation of acrosome reaction (GO:0060046)	3.23795045
28	zinc ion transport (GO:0006829)	3.23225840
29	protein polyglutamylation (GO:0018095)	3.21376338
30	negative regulation of execution phase of apoptosis (GO:1900118)	3.19707460
31	pteridine-containing compound biosynthetic process (GO:0042559)	3.16326677
32	negative regulation of DNA-dependent DNA replication (GO:2000104)	3.12147666
33	single strand break repair (GO:0000012)	3.10560792
34	ketone body metabolic process (GO:1902224)	3.08533711
35	cell wall macromolecule catabolic process (GO:0016998)	3.08492394
36	polyol catabolic process (GO:0046174)	3.06968691
37	righting reflex (GO:0060013)	3.06692077
38	negative regulation of acute inflammatory response (GO:0002674)	3.03672062
39	positive regulation of glycolytic process (GO:0045821)	3.02879885
40	protein K11-linked deubiquitination (GO:0035871)	3.00868431
41	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.00658396
42	positive regulation of histone H3-K4 methylation (GO:0051571)	2.98823205
43	retinol metabolic process (GO:0042572)	2.93932699
44	L-alpha-amino acid transmembrane transport (GO:1902475)	2.92323477
45	peptide hormone secretion (GO:0030072)	2.88675565
46	histone H2A acetylation (GO:0043968)	2.88588475
47	peptide secretion (GO:0002790)	2.87946356
48	branched-chain amino acid catabolic process (GO:0009083)	2.80132205
49	positive regulation of peptide hormone secretion (GO:0090277)	2.79041321
50	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.78754981
51	positive regulation of insulin secretion (GO:0032024)	2.78715335
52	iron coordination entity transport (GO:1901678)	2.75915104
53	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.75805684
54	glutathione derivative biosynthetic process (GO:1901687)	2.75227200
55	glutathione derivative metabolic process (GO:1901685)	2.75227200
56	xenobiotic catabolic process (GO:0042178)	2.74063876
57	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.73472280
58	glandular epithelial cell differentiation (GO:0002067)	2.72154897
59	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.71824903
60	renal tubule morphogenesis (GO:0061333)	2.71306041
61	protein complex biogenesis (GO:0070271)	2.69556580
62	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	2.65703853
63	isotype switching (GO:0045190)	2.65703853
64	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	2.65703853
65	positive regulation of peptide secretion (GO:0002793)	2.65326703
66	platelet dense granule organization (GO:0060155)	2.64408569
67	regulation of protein autophosphorylation (GO:0031952)	2.60906920
68	cell wall macromolecule metabolic process (GO:0044036)	2.60825692
69	L-phenylalanine catabolic process (GO:0006559)	2.59572764
70	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.59572764
71	artery smooth muscle contraction (GO:0014824)	2.59458808
72	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.59421067
73	protein localization to cilium (GO:0061512)	2.59235710
74	DNA deamination (GO:0045006)	2.58707202
75	urate metabolic process (GO:0046415)	2.56003177
76	ER overload response (GO:0006983)	2.55231984
77	female gonad development (GO:0008585)	2.54260848
78	coenzyme catabolic process (GO:0009109)	2.54162172
79	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.53167442
80	peptide transport (GO:0015833)	2.50250392
81	early endosome to late endosome transport (GO:0045022)	2.50092412
82	positive regulation of gluconeogenesis (GO:0045722)	2.48420795
83	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.47267423
84	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	2.46725198
85	glycerophospholipid catabolic process (GO:0046475)	2.46504630
86	negative regulation of protein autophosphorylation (GO:0031953)	2.44197807
87	preassembly of GPI anchor in ER membrane (GO:0016254)	2.43697859
88	positive regulation of actin filament depolymerization (GO:0030836)	2.43555327
89	mitochondrial respiratory chain complex assembly (GO:0033108)	2.43424983
90	negative regulation of hormone biosynthetic process (GO:0032353)	2.39527051
91	hormone secretion (GO:0046879)	2.38040449
92	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.35933799
93	L-phenylalanine metabolic process (GO:0006558)	2.35933799
94	peptidyl-cysteine modification (GO:0018198)	2.34687317
95	vascular smooth muscle contraction (GO:0014829)	2.34369250
96	negative regulation of hormone metabolic process (GO:0032351)	2.34087887
97	peptidyl-histidine modification (GO:0018202)	2.34028589
98	cobalamin metabolic process (GO:0009235)	2.33555802
99	reflex (GO:0060004)	2.32815592
100	kidney morphogenesis (GO:0060993)	2.32765613

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.51231635
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.68806926
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.19038762
4	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.76910875
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.60606881
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.43078780
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.28911881
8	FUS_26573619_Chip-Seq_HEK293_Human	2.25460808
9	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.24641844
10	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.23772855
11	VDR_22108803_ChIP-Seq_LS180_Human	2.21897123
12	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.20346139
13	GBX2_23144817_ChIP-Seq_PC3_Human	2.17146454
14	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.12253645
15	IGF1R_20145208_ChIP-Seq_DFB_Human	1.99751467
16	P300_19829295_ChIP-Seq_ESCs_Human	1.89890257
17	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.88978833
18	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.88119800
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.75470379
20	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.70356965
21	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.68819135
22	BCAT_22108803_ChIP-Seq_LS180_Human	1.68183092
23	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.67945677
24	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.65641083
25	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.58954211
26	SMAD4_21799915_ChIP-Seq_A2780_Human	1.57167017
27	EWS_26573619_Chip-Seq_HEK293_Human	1.56228638
28	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.55620825
29	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.55361956
30	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.55158216
31	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.55101759
32	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.54248916
33	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.51784114
34	CDX2_22108803_ChIP-Seq_LS180_Human	1.49561524
35	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.49349109
36	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.47767879
37	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.45165220
38	HTT_18923047_ChIP-ChIP_STHdh_Human	1.44500374
39	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.43820859
40	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.41129816
41	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.40561255
42	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.40478498
43	CBP_20019798_ChIP-Seq_JUKART_Human	1.40478498
44	ER_23166858_ChIP-Seq_MCF-7_Human	1.39933583
45	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.39902079
46	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.39728537
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.38030358
48	NANOG_19829295_ChIP-Seq_ESCs_Human	1.38030358
49	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.36622833
50	AR_25329375_ChIP-Seq_VCAP_Human	1.35419594
51	P53_22387025_ChIP-Seq_ESCs_Mouse	1.34928875
52	TCF4_23295773_ChIP-Seq_U87_Human	1.34365029
53	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.33983805
54	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.33840778
55	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.33115763
56	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.32757638
57	ELK1_19687146_ChIP-ChIP_HELA_Human	1.32440804
58	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.32026861
59	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.29926174
60	STAT3_23295773_ChIP-Seq_U87_Human	1.29699433
61	P300_18555785_Chip-Seq_ESCs_Mouse	1.29576872
62	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.29216651
63	TCF4_22108803_ChIP-Seq_LS180_Human	1.27942990
64	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27920173
65	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.27526374
66	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.27406504
67	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.26388465
68	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.25775899
69	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.24929881
70	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.24895131
71	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.24773033
72	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.23258259
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23254000
74	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.22241096
75	TP53_22573176_ChIP-Seq_HFKS_Human	1.20265519
76	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.20135492
77	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.18369266
78	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.18017247
79	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.17354040
80	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.16345198
81	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.15766853
82	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.15766853
83	TAF15_26573619_Chip-Seq_HEK293_Human	1.13738570
84	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.13425347
85	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.13402924
86	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.12529745
87	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.11072320
88	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.10827106
89	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.09960624
90	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.09019470
91	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.08730002
92	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.07889618
93	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.06392098
94	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.06202215
95	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.06088062
96	RUNX2_22187159_ChIP-Seq_PCA_Human	1.05592206
97	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.03609112
98	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.02458142
99	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.02280959
100	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.01814295

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002163_abnormal_gland_morphology	3.87010155
2	MP0003195_calcinosis	3.66102996
3	MP0005379_endocrine/exocrine_gland_phen	3.59133176
4	MP0002837_dystrophic_cardiac_calcinosis	3.34133956
5	MP0009780_abnormal_chondrocyte_physiolo	3.20677055
6	MP0010234_abnormal_vibrissa_follicle	3.03754642
7	MP0005084_abnormal_gallbladder_morpholo	2.81164292
8	MP0002138_abnormal_hepatobiliary_system	2.78411170
9	MP0002254_reproductive_system_inflammat	2.66830718
10	MP0008877_abnormal_DNA_methylation	2.65678854
11	MP0003787_abnormal_imprinting	2.64641494
12	MP0002876_abnormal_thyroid_physiology	2.59660827
13	MP0002139_abnormal_hepatobiliary_system	2.57570130
14	MP0005645_abnormal_hypothalamus_physiol	2.44308925
15	MP0010386_abnormal_urinary_bladder	2.28647883
16	MP0000013_abnormal_adipose_tissue	2.16061592
17	MP0002909_abnormal_adrenal_gland	2.06272189
18	MP0005220_abnormal_exocrine_pancreas	2.04047867
19	MP0006054_spinal_hemorrhage	1.98610566
20	MP0003123_paternal_imprinting	1.94631946
21	MP0001944_abnormal_pancreas_morphology	1.91977773
22	MP0003283_abnormal_digestive_organ	1.87257430
23	MP0002693_abnormal_pancreas_physiology	1.70153607
24	MP0002102_abnormal_ear_morphology	1.69875055
25	MP0008872_abnormal_physiological_respon	1.65165430
26	MP0001984_abnormal_olfaction	1.63675524
27	MP0004043_abnormal_pH_regulation	1.58870925
28	MP0009046_muscle_twitch	1.58502477
29	MP0003786_premature_aging	1.57639081
30	MP0002928_abnormal_bile_duct	1.57485586
31	MP0001986_abnormal_taste_sensitivity	1.56094771
32	MP0004019_abnormal_vitamin_homeostasis	1.53060780
33	MP0003122_maternal_imprinting	1.52621922
34	MP0005551_abnormal_eye_electrophysiolog	1.51783655
35	MP0005332_abnormal_amino_acid	1.50488128
36	MP0003950_abnormal_plasma_membrane	1.47862243
37	MP0001756_abnormal_urination	1.47538844
38	MP0005367_renal/urinary_system_phenotyp	1.47137434
39	MP0000516_abnormal_urinary_system	1.47137434
40	MP0010329_abnormal_lipoprotein_level	1.45935981
41	MP0000427_abnormal_hair_cycle	1.42614070
42	MP0003011_delayed_dark_adaptation	1.40612736
43	MP0002938_white_spotting	1.39140780
44	MP0000613_abnormal_salivary_gland	1.37728345
45	MP0003121_genomic_imprinting	1.37255660
46	MP0002277_abnormal_respiratory_mucosa	1.36356659
47	MP0006072_abnormal_retinal_apoptosis	1.34567940
48	MP0005646_abnormal_pituitary_gland	1.34288257
49	MP0003880_abnormal_central_pattern	1.33254913
50	MP0008057_abnormal_DNA_replication	1.28257829
51	MP0010352_gastrointestinal_tract_polyps	1.28009535
52	MP0005410_abnormal_fertilization	1.27035151
53	MP0005636_abnormal_mineral_homeostasis	1.24107856
54	MP0005670_abnormal_white_adipose	1.23285273
55	MP0002090_abnormal_vision	1.23016033
56	MP0005075_abnormal_melanosome_morpholog	1.21486291
57	MP0008875_abnormal_xenobiotic_pharmacok	1.19665255
58	MP0005253_abnormal_eye_physiology	1.19128008
59	MP0006036_abnormal_mitochondrial_physio	1.16819649
60	MP0008058_abnormal_DNA_repair	1.15214288
61	MP0005365_abnormal_bile_salt	1.12348704
62	MP0003890_abnormal_embryonic-extraembry	1.09849262
63	MP0001666_abnormal_nutrient_absorption	1.09752264
64	MP0010678_abnormal_skin_adnexa	1.09650448
65	MP0001485_abnormal_pinna_reflex	1.09481746
66	MP0001188_hyperpigmentation	1.08364369
67	MP0002078_abnormal_glucose_homeostasis	1.07034357
68	MP0005083_abnormal_biliary_tract	1.06192414
69	MP0000462_abnormal_digestive_system	1.02631658
70	MP0003252_abnormal_bile_duct	1.00569381
71	MP0001529_abnormal_vocalization	0.96997911
72	MP0004270_analgesia	0.95892640
73	MP0004134_abnormal_chest_morphology	0.95469274
74	MP0004142_abnormal_muscle_tone	0.93146065
75	MP0000538_abnormal_urinary_bladder	0.91387837
76	MP0008995_early_reproductive_senescence	0.90180281
77	MP0000639_abnormal_adrenal_gland	0.90107089
78	MP0009745_abnormal_behavioral_response	0.89766877
79	MP0004215_abnormal_myocardial_fiber	0.89415862
80	MP0002557_abnormal_social/conspecific_i	0.88385614
81	MP0000631_abnormal_neuroendocrine_gland	0.87274634
82	MP0003718_maternal_effect	0.85243327
83	MP0006035_abnormal_mitochondrial_morpho	0.83580864
84	MP0005395_other_phenotype	0.83394356
85	MP0003183_abnormal_peptide_metabolism	0.82940552
86	MP0003953_abnormal_hormone_level	0.82034372
87	MP0001765_abnormal_ion_homeostasis	0.80408320
88	MP0003941_abnormal_skin_development	0.79936397
89	MP0000647_abnormal_sebaceous_gland	0.79078274
90	MP0001764_abnormal_homeostasis	0.78339385
91	MP0005448_abnormal_energy_balance	0.74952964
92	MP0003137_abnormal_impulse_conducting	0.71922061
93	MP0003868_abnormal_feces_composition	0.69725870
94	MP0001486_abnormal_startle_reflex	0.69673982
95	MP0003045_fibrosis	0.69475450
96	MP0005389_reproductive_system_phenotype	0.68430587
97	MP0004085_abnormal_heartbeat	0.67543864
98	MP0000372_irregular_coat_pigmentation	0.65521040
99	MP0000003_abnormal_adipose_tissue	0.63914534
100	MP0002118_abnormal_lipid_homeostasis	0.61836049

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal pancreas size (HP:0012094)	4.94860876
2	Hypoglycemic coma (HP:0001325)	4.81483573
3	Intestinal atresia (HP:0011100)	4.51998801
4	Hypoglycemic seizures (HP:0002173)	4.38623388
5	Hyperinsulinemic hypoglycemia (HP:0000825)	4.18283483
6	Hyperglycemia (HP:0003074)	3.93725408
7	Large for gestational age (HP:0001520)	3.83817162
8	Abnormality of the pancreatic islet cells (HP:0006476)	3.49206216
9	Abnormality of endocrine pancreas physiology (HP:0012093)	3.49206216
10	Ketoacidosis (HP:0001993)	3.26999248
11	Abnormality of vitamin B metabolism (HP:0004340)	3.23744371
12	Methylmalonic acidemia (HP:0002912)	3.22549969
13	Pancreatic islet-cell hyperplasia (HP:0004510)	3.17413500
14	Neoplasm of the adrenal cortex (HP:0100641)	3.14579148
15	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.04599767
16	Hypothermia (HP:0002045)	3.00277135
17	Glycosuria (HP:0003076)	2.96373862
18	Abnormality of urine glucose concentration (HP:0011016)	2.96373862
19	Abnormal biliary tract morphology (HP:0012440)	2.81380904
20	Progressive macrocephaly (HP:0004481)	2.68153599
21	Methylmalonic aciduria (HP:0012120)	2.66151900
22	Late onset (HP:0003584)	2.61678934
23	Abnormality of the renal cortex (HP:0011035)	2.60573414
24	Aqueductal stenosis (HP:0002410)	2.59059124
25	Hypomagnesemia (HP:0002917)	2.58877795
26	Symptomatic seizures (HP:0011145)	2.56506294
27	EEG with generalized epileptiform discharges (HP:0011198)	2.53741329
28	Acute necrotizing encephalopathy (HP:0006965)	2.51869121
29	Medial flaring of the eyebrow (HP:0010747)	2.51841685
30	Insulin-resistant diabetes mellitus (HP:0000831)	2.51271350
31	Neoplasm of the adrenal gland (HP:0100631)	2.50800312
32	Enlarged penis (HP:0000040)	2.50517118
33	Muscular hypotonia of the trunk (HP:0008936)	2.48459014
34	Metaphyseal dysplasia (HP:0100255)	2.45606259
35	Exocrine pancreatic insufficiency (HP:0001738)	2.44450420
36	Epileptiform EEG discharges (HP:0011182)	2.43953512
37	Progressive inability to walk (HP:0002505)	2.42782677
38	Abnormality of vitamin metabolism (HP:0100508)	2.41648149
39	Ketosis (HP:0001946)	2.41455073
40	3-Methylglutaconic aciduria (HP:0003535)	2.41115208
41	Acute encephalopathy (HP:0006846)	2.40243726
42	Thyroiditis (HP:0100646)	2.39961322
43	Proximal tubulopathy (HP:0000114)	2.35390542
44	Hypsarrhythmia (HP:0002521)	2.34705187
45	Pancreatic fibrosis (HP:0100732)	2.31948358
46	Double outlet right ventricle (HP:0001719)	2.29105351
47	Congenital malformation of the right heart (HP:0011723)	2.29105351
48	Abnormality of the pons (HP:0007361)	2.28046625
49	Pancreatic cysts (HP:0001737)	2.23957522
50	Molar tooth sign on MRI (HP:0002419)	2.23011200
51	Abnormality of midbrain morphology (HP:0002418)	2.23011200
52	Abnormality of the labia minora (HP:0012880)	2.22843773
53	Renal cortical cysts (HP:0000803)	2.18337586
54	Increased CSF protein (HP:0002922)	2.17561013
55	Hemiparesis (HP:0001269)	2.12464489
56	Hepatic necrosis (HP:0002605)	2.12344946
57	Breast carcinoma (HP:0003002)	2.11925154
58	Increased CSF lactate (HP:0002490)	2.08534081
59	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.07739403
60	Mitochondrial inheritance (HP:0001427)	2.06795492
61	Vascular calcification (HP:0004934)	2.04634422
62	Cerebral edema (HP:0002181)	2.02285121
63	Congenital primary aphakia (HP:0007707)	2.01308184
64	Gastrointestinal atresia (HP:0002589)	2.00797171
65	Chronic hepatic failure (HP:0100626)	2.00657212
66	Prominent metopic ridge (HP:0005487)	1.97047506
67	Abnormality of the parathyroid morphology (HP:0011766)	1.96349635
68	Poor suck (HP:0002033)	1.95756465
69	Gait imbalance (HP:0002141)	1.95472300
70	Congenital stationary night blindness (HP:0007642)	1.95389060
71	Hypobetalipoproteinemia (HP:0003563)	1.94477012
72	Tongue fasciculations (HP:0001308)	1.92811593
73	True hermaphroditism (HP:0010459)	1.90447176
74	Abnormal mitochondria in muscle tissue (HP:0008316)	1.88470843
75	Attenuation of retinal blood vessels (HP:0007843)	1.88269659
76	Azoospermia (HP:0000027)	1.87874899
77	Nephrogenic diabetes insipidus (HP:0009806)	1.85521201
78	Hypoplasia of the uterus (HP:0000013)	1.82689885
79	Follicular hyperkeratosis (HP:0007502)	1.80245675
80	Unilateral renal agenesis (HP:0000122)	1.77626740
81	Increased hepatocellular lipid droplets (HP:0006565)	1.77573037
82	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.76254666
83	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.76254666
84	Colon cancer (HP:0003003)	1.75714521
85	Lipid accumulation in hepatocytes (HP:0006561)	1.75616232
86	Abnormal rod and cone electroretinograms (HP:0008323)	1.74341182
87	Biliary tract neoplasm (HP:0100574)	1.74143879
88	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.73269568
89	Cardiovascular calcification (HP:0011915)	1.71447328
90	Aplasia/hypoplasia of the uterus (HP:0008684)	1.70614086
91	Abnormality of chloride homeostasis (HP:0011422)	1.70096679
92	Generalized aminoaciduria (HP:0002909)	1.68736081
93	Abnormality of the metopic suture (HP:0005556)	1.68350502
94	Abnormality of magnesium homeostasis (HP:0004921)	1.68244356
95	Abnormality of the renal medulla (HP:0100957)	1.68102713
96	Albinism (HP:0001022)	1.67925983
97	Abnormality of methionine metabolism (HP:0010901)	1.67395811
98	Tubular atrophy (HP:0000092)	1.66298206
99	Nephronophthisis (HP:0000090)	1.65928911
100	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.64790346

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.05844162
2	MST4	4.66782785
3	LMTK2	3.53597069
4	MAP4K2	2.59550153
5	GRK1	2.59009281
6	TRIM28	2.52095519
7	FGFR2	2.33686580
8	OXSR1	2.24462335
9	STK24	2.20750116
10	MAP3K12	2.20061020
11	STK39	2.19622063
12	EIF2AK3	2.17391857
13	MKNK2	2.10934566
14	BMPR1B	2.08736979
15	STK3	1.87216911
16	NUAK1	1.85708135
17	ACVR1B	1.85582383
18	STK38L	1.84574352
19	PDK2	1.83814624
20	CASK	1.80515837
21	WNK3	1.80081271
22	ADRBK2	1.69202142
23	PNCK	1.50413584
24	PAK3	1.49706806
25	ZAK	1.45688792
26	PRKCI	1.41676205
27	PHKG2	1.38121621
28	PHKG1	1.38121621
29	BRSK2	1.36491304
30	DAPK2	1.33506344
31	PLK3	1.29211860
32	FER	1.28717447
33	MAP3K4	1.26743526
34	PASK	1.21277439
35	NLK	1.16144464
36	BCKDK	1.11776442
37	MAP3K2	1.11350729
38	PRKCE	1.10590465
39	PINK1	1.09157170
40	ERBB4	1.07512154
41	CSNK1G1	1.07274423
42	TSSK6	1.04129066
43	TNIK	1.03254874
44	AKT3	0.99079979
45	TAF1	0.93112992
46	WNK4	0.87274839
47	PLK2	0.86960453
48	INSRR	0.86332918
49	NME1	0.79851435
50	PTK2B	0.74571205
51	DAPK1	0.72991081
52	PRKG2	0.72562951
53	MKNK1	0.70097547
54	TTK	0.70041058
55	PRKCG	0.69531907
56	NTRK3	0.66237227
57	MAP2K6	0.64171994
58	WEE1	0.63392681
59	FGFR3	0.62721863
60	STK4	0.59723598
61	ADRBK1	0.53449490
62	ERBB3	0.51839909
63	CSNK1G2	0.51112148
64	STK11	0.49185604
65	CSNK1G3	0.48389068
66	PRKAA1	0.46939409
67	CAMK2D	0.46250351
68	STK10	0.45558461
69	PLK1	0.44792893
70	MAP2K1	0.41731193
71	ROCK1	0.41643809
72	PBK	0.41540014
73	MAPK13	0.40506202
74	HIPK2	0.40410892
75	PRKCQ	0.39642642
76	BCR	0.39549837
77	GRK5	0.39353490
78	TNK2	0.39029133
79	CSNK1A1L	0.37727605
80	ATM	0.37562949
81	CSNK1A1	0.36697754
82	MINK1	0.35863023
83	VRK2	0.35290258
84	FGFR1	0.34159012
85	SGK2	0.32424259
86	PRKG1	0.30124415
87	PRKAA2	0.28945223
88	BUB1	0.28690042
89	AKT2	0.28400089
90	MYLK	0.28364909
91	CSNK1D	0.27108678
92	CAMK2A	0.26978947
93	MAPKAPK3	0.25254065
94	CSNK1E	0.24903671
95	PRKACA	0.24736610
96	PRKACB	0.24060018
97	NEK1	0.22638347
98	PRKCA	0.21613344
99	BRSK1	0.20547418
100	DYRK3	0.19724031

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	5.38511243
2	Protein export_Homo sapiens_hsa03060	3.33504556
3	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.77324644
4	Propanoate metabolism_Homo sapiens_hsa00640	2.62487589
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.57790057
6	Butanoate metabolism_Homo sapiens_hsa00650	2.35023657
7	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.26054223
8	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.24814046
9	Fatty acid elongation_Homo sapiens_hsa00062	1.98294229
10	Insulin secretion_Homo sapiens_hsa04911	1.97087569
11	Non-homologous end-joining_Homo sapiens_hsa03450	1.75744500
12	Oxidative phosphorylation_Homo sapiens_hsa00190	1.75157545
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.72605277
14	beta-Alanine metabolism_Homo sapiens_hsa00410	1.67042278
15	Phototransduction_Homo sapiens_hsa04744	1.60493303
16	Tryptophan metabolism_Homo sapiens_hsa00380	1.58560251
17	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.58356832
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.54629284
19	Glutathione metabolism_Homo sapiens_hsa00480	1.54070216
20	Sulfur metabolism_Homo sapiens_hsa00920	1.51498058
21	Peroxisome_Homo sapiens_hsa04146	1.48989212
22	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.44699286
23	Folate biosynthesis_Homo sapiens_hsa00790	1.41784173
24	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.40523233
25	Proteasome_Homo sapiens_hsa03050	1.35964792
26	Fatty acid degradation_Homo sapiens_hsa00071	1.35080644
27	Steroid biosynthesis_Homo sapiens_hsa00100	1.33772398
28	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.30306617
29	ABC transporters_Homo sapiens_hsa02010	1.29691476
30	Sphingolipid metabolism_Homo sapiens_hsa00600	1.29605188
31	Collecting duct acid secretion_Homo sapiens_hsa04966	1.26087759
32	Chemical carcinogenesis_Homo sapiens_hsa05204	1.17608080
33	Retinol metabolism_Homo sapiens_hsa00830	1.16690370
34	RNA polymerase_Homo sapiens_hsa03020	1.16374538
35	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.11874617
36	Homologous recombination_Homo sapiens_hsa03440	1.11309135
37	Nitrogen metabolism_Homo sapiens_hsa00910	1.10750107
38	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07695684
39	Ether lipid metabolism_Homo sapiens_hsa00565	1.04711792
40	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.02191815
41	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.00324789
42	Caffeine metabolism_Homo sapiens_hsa00232	0.98949976
43	Parkinsons disease_Homo sapiens_hsa05012	0.96338939
44	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.96259616
45	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.94944940
46	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.92041599
47	Mineral absorption_Homo sapiens_hsa04978	0.89743914
48	Circadian rhythm_Homo sapiens_hsa04710	0.86594908
49	Regulation of autophagy_Homo sapiens_hsa04140	0.86168050
50	Alzheimers disease_Homo sapiens_hsa05010	0.85222077
51	Fanconi anemia pathway_Homo sapiens_hsa03460	0.84605587
52	Linoleic acid metabolism_Homo sapiens_hsa00591	0.83519136
53	One carbon pool by folate_Homo sapiens_hsa00670	0.83484817
54	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.81744266
55	Arginine and proline metabolism_Homo sapiens_hsa00330	0.81063994
56	Pancreatic secretion_Homo sapiens_hsa04972	0.79417972
57	Fatty acid metabolism_Homo sapiens_hsa01212	0.79117733
58	Mismatch repair_Homo sapiens_hsa03430	0.78046133
59	Metabolic pathways_Homo sapiens_hsa01100	0.76635374
60	Pyruvate metabolism_Homo sapiens_hsa00620	0.76364785
61	Histidine metabolism_Homo sapiens_hsa00340	0.75741242
62	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.75093157
63	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.74974884
64	Vibrio cholerae infection_Homo sapiens_hsa05110	0.73616922
65	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.70623442
66	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.70007451
67	Fat digestion and absorption_Homo sapiens_hsa04975	0.69337639
68	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.68748904
69	Purine metabolism_Homo sapiens_hsa00230	0.68384938
70	RNA degradation_Homo sapiens_hsa03018	0.67356225
71	Basal transcription factors_Homo sapiens_hsa03022	0.67331419
72	Type I diabetes mellitus_Homo sapiens_hsa04940	0.65112660
73	Renin secretion_Homo sapiens_hsa04924	0.64091135
74	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.62585081
75	Arginine biosynthesis_Homo sapiens_hsa00220	0.59888862
76	Glucagon signaling pathway_Homo sapiens_hsa04922	0.58732755
77	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.58490849
78	Salivary secretion_Homo sapiens_hsa04970	0.57518814
79	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.55970495
80	Serotonergic synapse_Homo sapiens_hsa04726	0.54515567
81	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.54402064
82	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.53652863
83	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.51099676
84	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.50577412
85	Huntingtons disease_Homo sapiens_hsa05016	0.50572533
86	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.50362181
87	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.50110637
88	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.49301287
89	Cardiac muscle contraction_Homo sapiens_hsa04260	0.48296632
90	Circadian entrainment_Homo sapiens_hsa04713	0.47802108
91	Glycerolipid metabolism_Homo sapiens_hsa00561	0.47503354
92	Bile secretion_Homo sapiens_hsa04976	0.46467817
93	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.45190981
94	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.43018949
95	Lysine degradation_Homo sapiens_hsa00310	0.42704166
96	Tight junction_Homo sapiens_hsa04530	0.41727047
97	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.41316266
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.41133337
99	Dopaminergic synapse_Homo sapiens_hsa04728	0.39831774
100	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.39488024

NDUFS5P1

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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