ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	thrombin receptor signaling pathway (GO:0070493)	7.00441472
2	neutrophil activation involved in immune response (GO:0002283)	6.11304984
3	negative regulation of heart rate (GO:0010459)	5.99724516
4	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	5.25385933
5	positive regulation of endothelial cell differentiation (GO:0045603)	4.85134688
6	blood coagulation, intrinsic pathway (GO:0007597)	4.80306441
7	positive regulation of mast cell activation (GO:0033005)	4.62082193
8	regulation of platelet activation (GO:0010543)	4.57731593
9	negative regulation of norepinephrine secretion (GO:0010700)	4.56240716
10	negative regulation of response to food (GO:0032096)	4.54430647
11	negative regulation of appetite (GO:0032099)	4.54430647
12	regulation of oxidative phosphorylation (GO:0002082)	4.31398244
13	regulation of integrin-mediated signaling pathway (GO:2001044)	4.26731804
14	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	4.25704280
15	sequestering of actin monomers (GO:0042989)	4.23056919
16	adenosine receptor signaling pathway (GO:0001973)	4.21528648
17	regulation of platelet aggregation (GO:0090330)	4.19523612
18	platelet aggregation (GO:0070527)	4.17072324
19	negative regulation of thymocyte apoptotic process (GO:0070244)	4.15417634
20	positive regulation of protein homodimerization activity (GO:0090073)	3.92155126
21	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	3.91428086
22	low-density lipoprotein particle remodeling (GO:0034374)	3.84422289
23	purinergic nucleotide receptor signaling pathway (GO:0035590)	3.82687315
24	positive regulation of mast cell activation involved in immune response (GO:0033008)	3.74930865
25	positive regulation of mast cell degranulation (GO:0043306)	3.74930865
26	leukocyte migration involved in inflammatory response (GO:0002523)	3.74326623
27	regulation of Golgi to plasma membrane protein transport (GO:0042996)	3.73654751
28	negative regulation of platelet activation (GO:0010544)	3.65723212
29	negative regulation of heart contraction (GO:0045822)	3.62433488
30	G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)	3.62043908
31	fusion of sperm to egg plasma membrane (GO:0007342)	3.61299282
32	relaxation of smooth muscle (GO:0044557)	3.59361226
33	regulation of endothelial cell differentiation (GO:0045601)	3.59160665
34	regulation of lipoprotein metabolic process (GO:0050746)	3.56493256
35	dopamine transport (GO:0015872)	3.56025288
36	lipoxygenase pathway (GO:0019372)	3.52351397
37	monoamine transport (GO:0015844)	3.51999462
38	neutrophil activation (GO:0042119)	3.46630791
39	regulation of cilium movement (GO:0003352)	3.46525945
40	negative regulation of homotypic cell-cell adhesion (GO:0034111)	3.42422501
41	tyrosine metabolic process (GO:0006570)	3.41606015
42	negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)	3.37553524
43	regulation of metalloenzyme activity (GO:0048552)	3.29466706
44	tonic smooth muscle contraction (GO:0014820)	3.23944993
45	negative regulation of blood circulation (GO:1903523)	3.20561145
46	negative regulation of calcium ion transmembrane transport (GO:1903170)	3.19060968
47	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	3.19060968
48	natural killer cell activation involved in immune response (GO:0002323)	3.17659178
49	platelet degranulation (GO:0002576)	3.12630247
50	negative regulation of catecholamine secretion (GO:0033604)	3.12584352
51	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.10496067
52	negative regulation of cation channel activity (GO:2001258)	3.09720885
53	negative regulation of protein localization to cell surface (GO:2000009)	3.09585046
54	positive regulation of macrophage differentiation (GO:0045651)	3.08691200
55	regulation of protein glycosylation (GO:0060049)	3.08073248
56	reverse cholesterol transport (GO:0043691)	3.03291265
57	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.01223983
58	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.01223983
59	NADH dehydrogenase complex assembly (GO:0010257)	3.01223983
60	regulation of appetite (GO:0032098)	2.98986118
61	protein complex biogenesis (GO:0070271)	2.97769013
62	granulocyte activation (GO:0036230)	2.97414846
63	angiogenesis involved in wound healing (GO:0060055)	2.96804693
64	cellular biogenic amine catabolic process (GO:0042402)	2.94771765
65	amine catabolic process (GO:0009310)	2.94771765
66	phagocytosis, engulfment (GO:0006911)	2.94573751
67	fatty acid elongation (GO:0030497)	2.94238818
68	purinergic receptor signaling pathway (GO:0035587)	2.92366925
69	extracellular fibril organization (GO:0043206)	2.90554405
70	regulation of macrophage derived foam cell differentiation (GO:0010743)	2.88139610
71	regulation of integrin activation (GO:0033623)	2.86784395
72	plasma membrane fusion (GO:0045026)	2.85704584
73	high-density lipoprotein particle remodeling (GO:0034375)	2.84086163
74	adenosine metabolic process (GO:0046085)	2.81904442
75	regulation of MHC class II biosynthetic process (GO:0045346)	2.81313171
76	Arp2/3 complex-mediated actin nucleation (GO:0034314)	2.78702985
77	positive regulation of granulocyte differentiation (GO:0030854)	2.78695209
78	positive regulation of cAMP-mediated signaling (GO:0043950)	2.78468760
79	beta-amyloid metabolic process (GO:0050435)	2.77653194
80	homotypic cell-cell adhesion (GO:0034109)	2.75463434
81	mitochondrial calcium ion transport (GO:0006851)	2.75189433
82	regulation of response to food (GO:0032095)	2.71105668
83	positive regulation of inflammatory response to antigenic stimulus (GO:0002863)	2.70839978
84	negative regulation of T-helper cell differentiation (GO:0045623)	2.69798957
85	negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)	2.69798957
86	innate immune response in mucosa (GO:0002227)	2.69405699
87	negative regulation of T cell apoptotic process (GO:0070233)	2.68432774
88	pyrimidine nucleoside catabolic process (GO:0046135)	2.68100045
89	L-phenylalanine catabolic process (GO:0006559)	2.66621519
90	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.66621519
91	megakaryocyte development (GO:0035855)	2.66487587
92	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.66006673
93	positive regulation of blood coagulation (GO:0030194)	2.65502789
94	positive regulation of hemostasis (GO:1900048)	2.65502789
95	cellular response to leptin stimulus (GO:0044320)	2.64876708
96	regulation of hypersensitivity (GO:0002883)	2.64753736
97	platelet activation (GO:0030168)	2.64412775
98	regulation of norepinephrine secretion (GO:0014061)	2.62953076
99	phospholipid homeostasis (GO:0055091)	2.62165189
100	protein neddylation (GO:0045116)	10.3850600

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	5.24035995
2	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	3.46146311
3	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	3.19886516
4	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.16240759
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.67651325
6	IRF8_21731497_ChIP-ChIP_J774_Mouse	2.61221246
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.47499207
8	SCL_19346495_ChIP-Seq_HPC-7_Human	2.47294146
9	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.42527727
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.42078458
11	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.39840759
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.38203137
13	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	2.03494967
14	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	2.00018896
15	TAF15_26573619_Chip-Seq_HEK293_Human	1.96034003
16	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.95300303
17	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.89393435
18	EZH2_22144423_ChIP-Seq_EOC_Human	1.89050318
19	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.88978384
20	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.81030492
21	IRF1_19129219_ChIP-ChIP_H3396_Human	1.72808174
22	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.71068237
23	BCAT_22108803_ChIP-Seq_LS180_Human	1.66666901
24	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.64306661
25	GATA1_22025678_ChIP-Seq_K562_Human	1.63835601
26	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.61059889
27	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.60664639
28	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.59629877
29	GATA1_19941826_ChIP-Seq_K562_Human	1.58277314
30	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.55881988
31	EWS_26573619_Chip-Seq_HEK293_Human	1.55629222
32	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.54707124
33	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.53602706
34	P53_22387025_ChIP-Seq_ESCs_Mouse	1.51701530
35	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.51060078
36	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.50808328
37	P300_19829295_ChIP-Seq_ESCs_Human	1.47846839
38	HTT_18923047_ChIP-ChIP_STHdh_Human	1.47016428
39	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.44481499
40	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.40649806
41	AR_20517297_ChIP-Seq_VCAP_Human	1.39324736
42	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.37890723
43	GATA2_19941826_ChIP-Seq_K562_Human	1.36008040
44	SPI1_23127762_ChIP-Seq_K562_Human	1.34375927
45	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.33512666
46	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.33405477
47	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.32166511
48	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.30179536
49	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.29445880
50	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.29381103
51	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.29284691
52	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.27734968
53	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.27734968
54	NANOG_19829295_ChIP-Seq_ESCs_Human	1.27554374
55	SOX2_19829295_ChIP-Seq_ESCs_Human	1.27554374
56	PU1_27457419_Chip-Seq_LIVER_Mouse	1.26501117
57	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.26046407
58	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.25823450
59	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.25359212
60	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.24775495
61	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.23966185
62	AR_25329375_ChIP-Seq_VCAP_Human	1.23581508
63	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23356856
64	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.22255941
65	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.22248822
66	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.20806883
67	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.20448499
68	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.19119026
69	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.17785286
70	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.17785286
71	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.17044674
72	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.16923299
73	ER_23166858_ChIP-Seq_MCF-7_Human	1.16781630
74	TP53_22573176_ChIP-Seq_HFKS_Human	1.16695861
75	SMAD4_21799915_ChIP-Seq_A2780_Human	1.16294057
76	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	1.15152872
77	IRF8_27001747_Chip-Seq_BMDM_Mouse	1.14380185
78	GATA1_19941827_ChIP-Seq_MEL_Mouse	1.14088881
79	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.13763588
80	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.12247311
81	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.10763976
82	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.10432005
83	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.09412499
84	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.09351546
85	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.09334884
86	SMAD1_18555785_Chip-Seq_ESCs_Mouse	1.08780394
87	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.08577463
88	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.07700118
89	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.06557819
90	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.06252650
91	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.05624149
92	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.05624149
93	VDR_22108803_ChIP-Seq_LS180_Human	1.05367379
94	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.05312595
95	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.05106637
96	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.05055824
97	ERG_20517297_ChIP-Seq_VCAP_Human	1.04361828
98	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.03943090
99	KLF4_18555785_Chip-Seq_ESCs_Mouse	1.03513456
100	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.02995069

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005464_abnormal_platelet_physiology	7.90358908
2	MP0008004_abnormal_stomach_pH	4.50533188
3	MP0000465_gastrointestinal_hemorrhage	3.03070641
4	MP0001835_abnormal_antigen_presentation	2.50851930
5	MP0005646_abnormal_pituitary_gland	2.50297506
6	MP0003724_increased_susceptibility_to	2.41996179
7	MP0008875_abnormal_xenobiotic_pharmacok	2.40579546
8	MP0000230_abnormal_systemic_arterial	2.33222143
9	MP0009697_abnormal_copulation	2.24410034
10	MP0004084_abnormal_cardiac_muscle	2.20840223
11	MP0006054_spinal_hemorrhage	2.13909578
12	MP0008872_abnormal_physiological_respon	2.13897672
13	MP0002736_abnormal_nociception_after	2.13002001
14	MP0005410_abnormal_fertilization	1.98323674
15	MP0008775_abnormal_heart_ventricle	1.89834434
16	MP0001529_abnormal_vocalization	1.85977254
17	MP0005167_abnormal_blood-brain_barrier	1.80562421
18	MP0000343_altered_response_to	1.79846433
19	MP0001968_abnormal_touch/_nociception	1.78584719
20	MP0005171_absent_coat_pigmentation	1.73032034
21	MP0002148_abnormal_hypersensitivity_rea	1.71797392
22	MP0008789_abnormal_olfactory_epithelium	1.69840578
23	MP0003186_abnormal_redox_activity	1.67033893
24	MP0003806_abnormal_nucleotide_metabolis	1.64018696
25	MP0001984_abnormal_olfaction	1.58117935
26	MP0005671_abnormal_response_to	1.54550569
27	MP0002132_abnormal_respiratory_system	1.49815586
28	MP0004215_abnormal_myocardial_fiber	1.48533330
29	MP0005499_abnormal_olfactory_system	1.46506390
30	MP0005394_taste/olfaction_phenotype	1.46506390
31	MP0000383_abnormal_hair_follicle	1.46181563
32	MP0005083_abnormal_biliary_tract	1.45919471
33	MP0001919_abnormal_reproductive_system	1.45382410
34	MP0004510_myositis	1.42155662
35	MP0002837_dystrophic_cardiac_calcinosis	1.40045857
36	MP0006276_abnormal_autonomic_nervous	1.34058550
37	MP0004036_abnormal_muscle_relaxation	1.30504972
38	MP0001905_abnormal_dopamine_level	1.29514164
39	MP0006036_abnormal_mitochondrial_physio	1.29320161
40	MP0000249_abnormal_blood_vessel	1.26918251
41	MP0005000_abnormal_immune_tolerance	1.22294040
42	MP0003638_abnormal_response/metabolism_	1.22185049
43	MP0001970_abnormal_pain_threshold	1.18842124
44	MP0000372_irregular_coat_pigmentation	1.18316571
45	MP0001986_abnormal_taste_sensitivity	1.16965303
46	MP0001879_abnormal_lymphatic_vessel	1.16227000
47	MP0010329_abnormal_lipoprotein_level	1.14657161
48	MP0009764_decreased_sensitivity_to	1.11983729
49	MP0002733_abnormal_thermal_nociception	1.11307740
50	MP0009763_increased_sensitivity_to	1.10571467
51	MP0010678_abnormal_skin_adnexa	1.08455837
52	MP0004272_abnormal_basement_membrane	1.08379644
53	MP0002398_abnormal_bone_marrow	1.07331632
54	MP0002102_abnormal_ear_morphology	1.06256744
55	MP0002163_abnormal_gland_morphology	1.03942345
56	MP0005084_abnormal_gallbladder_morpholo	1.01257634
57	MP0002653_abnormal_ependyma_morphology	1.00725662
58	MP0001756_abnormal_urination	0.97888631
59	MP0009765_abnormal_xenobiotic_induced	0.96666351
60	MP0002452_abnormal_antigen_presenting	0.96190753
61	MP0010155_abnormal_intestine_physiology	0.95647014
62	MP0001800_abnormal_humoral_immune	0.94417986
63	MP0005389_reproductive_system_phenotype	0.93920208
64	MP0006035_abnormal_mitochondrial_morpho	0.93782717
65	MP0004142_abnormal_muscle_tone	0.93597562
66	MP0005187_abnormal_penis_morphology	0.92519613
67	MP0008877_abnormal_DNA_methylation	0.90812484
68	MP0001765_abnormal_ion_homeostasis	0.90266466
69	MP0005535_abnormal_body_temperature	0.89751389
70	MP0001851_eye_inflammation	0.88639487
71	MP0002723_abnormal_immune_serum	0.86641775
72	MP0009780_abnormal_chondrocyte_physiolo	0.85186915
73	MP0005387_immune_system_phenotype	0.85077709
74	MP0001790_abnormal_immune_system	0.85077709
75	MP0001663_abnormal_digestive_system	0.85052434
76	MP0005647_abnormal_sex_gland	0.83372467
77	MP0008961_abnormal_basal_metabolism	0.82825741
78	MP0006072_abnormal_retinal_apoptosis	0.82813386
79	MP0005397_hematopoietic_system_phenotyp	0.82789812
80	MP0001545_abnormal_hematopoietic_system	0.82789812
81	MP0003866_abnormal_defecation	0.82744219
82	MP0004085_abnormal_heartbeat	0.82598502
83	MP0003252_abnormal_bile_duct	0.82513917
84	MP0002735_abnormal_chemical_nociception	0.82322656
85	MP0009642_abnormal_blood_homeostasis	0.82148805
86	MP0005409_darkened_coat_color	0.80218156
87	MP0003303_peritoneal_inflammation	0.79492387
88	MP0004147_increased_porphyrin_level	0.78569088
89	MP0002429_abnormal_blood_cell	0.78303588
90	MP0001191_abnormal_skin_condition	0.78221205
91	MP0005636_abnormal_mineral_homeostasis	0.77353366
92	MP0002972_abnormal_cardiac_muscle	0.76711398
93	MP0002420_abnormal_adaptive_immunity	0.75421294
94	MP0001819_abnormal_immune_cell	0.75035368
95	MP0005448_abnormal_energy_balance	0.74471558
96	MP0005165_increased_susceptibility_to	0.74364896
97	MP0000015_abnormal_ear_pigmentation	0.73701451
98	MP0003879_abnormal_hair_cell	0.73278126
99	MP0000689_abnormal_spleen_morphology	0.70175814
100	MP0000716_abnormal_immune_system	0.69047038

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Prolonged bleeding time (HP:0003010)	8.71407259
2	Menorrhagia (HP:0000132)	7.93080445
3	Increased mean platelet volume (HP:0011877)	7.80897610
4	Petechiae (HP:0000967)	7.51236007
5	Abnormal platelet volume (HP:0011876)	7.14212743
6	Purpura (HP:0000979)	6.59532954
7	Epistaxis (HP:0000421)	6.03755060
8	3-Methylglutaconic aciduria (HP:0003535)	5.11915063
9	Gingival bleeding (HP:0000225)	5.00242218
10	Dyschromatopsia (HP:0007641)	4.99792003
11	Hyperlipoproteinemia (HP:0010980)	4.61793949
12	Impaired platelet aggregation (HP:0003540)	4.44344719
13	Abnormal platelet function (HP:0011869)	4.44344719
14	Conjunctival telangiectasia (HP:0000524)	4.36795055
15	Spontaneous hematomas (HP:0007420)	4.07301520
16	Abnormality of the vasculature of the conjunctiva (HP:0008054)	3.80579938
17	Poikilocytosis (HP:0004447)	3.64255239
18	Congenital, generalized hypertrichosis (HP:0004540)	3.55532353
19	Acute necrotizing encephalopathy (HP:0006965)	3.50807780
20	Calf muscle hypertrophy (HP:0008981)	3.50352393
21	Acanthocytosis (HP:0001927)	3.25272625
22	Muscle hypertrophy of the lower extremities (HP:0008968)	3.10564574
23	Increased density of long bones (HP:0006392)	3.08713532
24	Progressive macrocephaly (HP:0004481)	3.08546422
25	Hypoglycemic seizures (HP:0002173)	3.03577981
26	Mitochondrial inheritance (HP:0001427)	3.02866191
27	Acute encephalopathy (HP:0006846)	2.93534359
28	Abnormal pupillary function (HP:0007686)	2.93504788
29	Abnormal mitochondria in muscle tissue (HP:0008316)	2.92457657
30	Renal Fanconi syndrome (HP:0001994)	2.89133820
31	Generalized aminoaciduria (HP:0002909)	2.86844799
32	Hepatic necrosis (HP:0002605)	2.85068838
33	Decreased central vision (HP:0007663)	2.84029994
34	Abnormality of the heme biosynthetic pathway (HP:0010472)	2.83432172
35	Hypoglycemic coma (HP:0001325)	2.56323067
36	Abnormality of the common coagulation pathway (HP:0010990)	2.53933934
37	Hypothermia (HP:0002045)	2.50909360
38	Abnormality of lateral ventricle (HP:0030047)	2.43482598
39	Exertional dyspnea (HP:0002875)	2.43199952
40	Increased CSF lactate (HP:0002490)	2.42200196
41	Bruising susceptibility (HP:0000978)	2.41782226
42	Hepatocellular necrosis (HP:0001404)	2.36296672
43	Cerebral edema (HP:0002181)	2.30878065
44	Paralysis (HP:0003470)	2.29872958
45	Woolly hair (HP:0002224)	2.28871040
46	Type II lissencephaly (HP:0007260)	2.26681071
47	Hepatosplenomegaly (HP:0001433)	2.25033868
48	Increased hepatocellular lipid droplets (HP:0006565)	2.12168120
49	Abnormality of the prostate (HP:0008775)	2.11164824
50	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.02229664
51	Abnormality of alanine metabolism (HP:0010916)	2.02229664
52	Hyperalaninemia (HP:0003348)	2.02229664
53	Stomatitis (HP:0010280)	2.01338781
54	Xanthomatosis (HP:0000991)	1.99123562
55	Joint swelling (HP:0001386)	1.96010447
56	Pancreatic islet-cell hyperplasia (HP:0004510)	1.93971531
57	Abnormal auditory evoked potentials (HP:0006958)	1.93406025
58	Hypoproteinemia (HP:0003075)	1.92398663
59	Abolished electroretinogram (ERG) (HP:0000550)	1.89937494
60	Tinnitus (HP:0000360)	1.86076494
61	Retinal dysplasia (HP:0007973)	1.80624000
62	Symptomatic seizures (HP:0011145)	1.79487299
63	Increased IgM level (HP:0003496)	1.79347241
64	Basal ganglia calcification (HP:0002135)	1.77665827
65	Nausea (HP:0002018)	1.76997601
66	Spontaneous abortion (HP:0005268)	1.72585869
67	Joint hemorrhage (HP:0005261)	1.72504365
68	Lipid accumulation in hepatocytes (HP:0006561)	1.72258925
69	Eosinophilia (HP:0001880)	1.70793806
70	Abnormality of renal resorption (HP:0011038)	1.69541867
71	Abnormality of binocular vision (HP:0011514)	1.68534217
72	Diplopia (HP:0000651)	1.68534217
73	Thyroiditis (HP:0100646)	1.67517483
74	Arterial thrombosis (HP:0004420)	1.64858381
75	Increased intramyocellular lipid droplets (HP:0012240)	1.64250820
76	Abnormality of iron homeostasis (HP:0011031)	1.63159874
77	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.62606091
78	Thyroid-stimulating hormone excess (HP:0002925)	1.59828583
79	Tongue fasciculations (HP:0001308)	1.59418337
80	Optic disc pallor (HP:0000543)	1.59189339
81	Abnormality of the calf musculature (HP:0001430)	1.58791674
82	Cutaneous melanoma (HP:0012056)	1.57652402
83	Hypophosphatemic rickets (HP:0004912)	1.54149076
84	Medial flaring of the eyebrow (HP:0010747)	1.54126144
85	Abnormality of the pancreatic islet cells (HP:0006476)	1.53939444
86	Abnormality of endocrine pancreas physiology (HP:0012093)	1.53939444
87	Febrile seizures (HP:0002373)	1.53127890
88	Abnormal ciliary motility (HP:0012262)	1.52304487
89	Renal cortical cysts (HP:0000803)	1.52183779
90	Abnormal spermatogenesis (HP:0008669)	1.52181802
91	Acute hepatic failure (HP:0006554)	1.49568947
92	Abnormality of transition element cation homeostasis (HP:0011030)	1.49243635
93	Vasculitis (HP:0002633)	1.48831906
94	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	1.48220731
95	Mucosal telangiectasiae (HP:0100579)	1.47669002
96	Thrombophlebitis (HP:0004418)	1.47063790
97	Chest pain (HP:0100749)	1.46572017
98	Dysautonomia (HP:0002459)	1.45555128
99	Lissencephaly (HP:0001339)	1.45039873
100	Abnormality of B cell number (HP:0010975)	1.44848241

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MST4	3.91825100
2	EIF2AK1	3.76213704
3	RIPK4	3.70536961
4	MYLK	3.46333992
5	MAP4K2	3.18936562
6	BMPR2	2.97558096
7	BMX	2.59398272
8	TEC	2.41667050
9	CDK19	2.34763307
10	BTK	2.21944370
11	PLK2	2.04722131
12	SYK	2.04030308
13	PTK2B	1.92683896
14	PIK3CG	1.88138216
15	TRIM28	1.87162052
16	ADRBK2	1.84805978
17	GRK5	1.77545054
18	NUAK1	1.76335680
19	ZAK	1.74097230
20	CSF1R	1.72975690
21	ILK	1.57797470
22	FRK	1.53502595
23	GRK1	1.52212062
24	MAPK13	1.40159532
25	PHKG1	1.33275376
26	PHKG2	1.33275376
27	TESK1	1.26947988
28	BMPR1B	1.26880914
29	DAPK3	1.26521948
30	MAP3K12	1.22949868
31	TNIK	1.21384345
32	CDK8	1.18925261
33	TNK2	1.17520323
34	CSNK1G3	1.10907997
35	LYN	1.10660573
36	GRK6	1.08270084
37	CSNK1G2	1.04574832
38	EPHA3	1.03210895
39	DAPK2	1.03100964
40	SRPK1	1.00720506
41	TAOK3	1.00532285
42	PKN1	0.96617362
43	HCK	0.94351296
44	STK3	0.92992223
45	TLK1	0.92419490
46	ERBB3	0.87558794
47	PAK1	0.84462185
48	CCNB1	0.83949947
49	CSNK1G1	0.83490987
50	ARAF	0.83113216
51	LIMK1	0.82008259
52	OXSR1	0.79012276
53	VRK1	0.77264757
54	BLK	0.76134277
55	TESK2	0.75331515
56	FER	0.74971989
57	ITK	0.74104870
58	PRKD1	0.71194594
59	PIM2	0.66062931
60	PLK3	0.65246293
61	CSNK1A1L	0.65082707
62	PRKG1	0.64052754
63	BCKDK	0.63387291
64	FES	0.62591855
65	ERBB2	0.62486653
66	MAPKAPK3	0.62406821
67	STK39	0.59646858
68	ACVR1B	0.58917563
69	MATK	0.58902648
70	ADRBK1	0.56033980
71	CAMK2D	0.55103019
72	DAPK1	0.54526825
73	PAK3	0.52943038
74	CDK14	0.51839843
75	PIK3CA	0.51482203
76	LMTK2	0.51260243
77	MINK1	0.51066704
78	TXK	0.49323564
79	PRKACG	0.48605163
80	FGR	0.47731843
81	CAMK2A	0.44579930
82	PRKCE	0.44082396
83	SIK3	0.42528656
84	INSRR	0.42447955
85	IKBKB	0.41184997
86	ZAP70	0.39344166
87	PRKACA	0.38556272
88	KDR	0.38438266
89	ROCK1	0.37954246
90	BCR	0.36469291
91	MAP3K5	0.36050362
92	FYN	0.34940720
93	MKNK1	0.33909884
94	WNK3	0.33861490
95	PRKCD	0.33811780
96	CDK3	0.33092768
97	PRKCA	0.32459644
98	PRKCB	0.32436320
99	DYRK1B	0.32180771
100	ABL1	0.32180116

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	4.76062379
2	Asthma_Homo sapiens_hsa05310	3.79722942
3	Platelet activation_Homo sapiens_hsa04611	3.37102447
4	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	2.95012107
5	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	2.77965612
6	Hematopoietic cell lineage_Homo sapiens_hsa04640	2.56114537
7	Allograft rejection_Homo sapiens_hsa05330	2.45480429
8	Fatty acid elongation_Homo sapiens_hsa00062	2.42570606
9	Graft-versus-host disease_Homo sapiens_hsa05332	2.38947780
10	Autoimmune thyroid disease_Homo sapiens_hsa05320	2.26794302
11	Oxidative phosphorylation_Homo sapiens_hsa00190	2.22039670
12	Type I diabetes mellitus_Homo sapiens_hsa04940	2.12808409
13	Parkinsons disease_Homo sapiens_hsa05012	2.02530324
14	Nitrogen metabolism_Homo sapiens_hsa00910	1.88785781
15	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.87724662
16	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.83929239
17	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.69998044
18	Olfactory transduction_Homo sapiens_hsa04740	1.63874247
19	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.60730311
20	Mismatch repair_Homo sapiens_hsa03430	1.54174440
21	Pentose phosphate pathway_Homo sapiens_hsa00030	1.53729881
22	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.51432211
23	Collecting duct acid secretion_Homo sapiens_hsa04966	1.50574117
24	Protein export_Homo sapiens_hsa03060	1.37495395
25	Serotonergic synapse_Homo sapiens_hsa04726	1.26344003
26	Viral myocarditis_Homo sapiens_hsa05416	1.24820172
27	Linoleic acid metabolism_Homo sapiens_hsa00591	1.24420401
28	Rheumatoid arthritis_Homo sapiens_hsa05323	1.23985330
29	Alzheimers disease_Homo sapiens_hsa05010	1.23494533
30	ECM-receptor interaction_Homo sapiens_hsa04512	1.22504921
31	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.19014780
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.16145244
33	Primary immunodeficiency_Homo sapiens_hsa05340	1.13212405
34	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.10791202
35	Phagosome_Homo sapiens_hsa04145	1.09261881
36	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.07567449
37	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07433575
38	Alcoholism_Homo sapiens_hsa05034	1.04857123
39	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.02207031
40	Huntingtons disease_Homo sapiens_hsa05016	1.00765006
41	Sulfur metabolism_Homo sapiens_hsa00920	0.98900991
42	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.95298097
43	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.89814893
44	Gap junction_Homo sapiens_hsa04540	0.87607442
45	Regulation of autophagy_Homo sapiens_hsa04140	0.86944480
46	Morphine addiction_Homo sapiens_hsa05032	0.85244548
47	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.82239473
48	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.79648622
49	GABAergic synapse_Homo sapiens_hsa04727	0.79024265
50	Circadian entrainment_Homo sapiens_hsa04713	0.77821123
51	Chemokine signaling pathway_Homo sapiens_hsa04062	0.74637602
52	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.74520268
53	Nucleotide excision repair_Homo sapiens_hsa03420	0.74442418
54	Cardiac muscle contraction_Homo sapiens_hsa04260	0.73331561
55	Pancreatic secretion_Homo sapiens_hsa04972	0.71801015
56	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.70907427
57	Antigen processing and presentation_Homo sapiens_hsa04612	0.68045809
58	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.66533883
59	Phototransduction_Homo sapiens_hsa04744	0.64124343
60	Non-homologous end-joining_Homo sapiens_hsa03450	0.61358951
61	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.55955491
62	Glutathione metabolism_Homo sapiens_hsa00480	0.54957884
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53768756
64	Purine metabolism_Homo sapiens_hsa00230	0.53756599
65	Fat digestion and absorption_Homo sapiens_hsa04975	0.52645088
66	Endocytosis_Homo sapiens_hsa04144	0.52108278
67	Proteasome_Homo sapiens_hsa03050	0.51920843
68	Salmonella infection_Homo sapiens_hsa05132	0.51089840
69	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.50694940
70	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49664583
71	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.49088014
72	Shigellosis_Homo sapiens_hsa05131	0.48751738
73	Long-term depression_Homo sapiens_hsa04730	0.48309638
74	Pyrimidine metabolism_Homo sapiens_hsa00240	0.46765804
75	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.46315764
76	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.45497306
77	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.45243665
78	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.42795971
79	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.42720306
80	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.40879588
81	Leishmaniasis_Homo sapiens_hsa05140	0.40846398
82	Renin secretion_Homo sapiens_hsa04924	0.39210881
83	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.38129451
84	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.37136540
85	Salivary secretion_Homo sapiens_hsa04970	0.34701193
86	Calcium signaling pathway_Homo sapiens_hsa04020	0.34345338
87	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.33581981
88	Glutamatergic synapse_Homo sapiens_hsa04724	0.31787547
89	Gastric acid secretion_Homo sapiens_hsa04971	0.29476956
90	Ether lipid metabolism_Homo sapiens_hsa00565	0.29381610
91	Tyrosine metabolism_Homo sapiens_hsa00350	0.28843443
92	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.27341451
93	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.20657304
94	Steroid biosynthesis_Homo sapiens_hsa00100	0.20593775
95	Butanoate metabolism_Homo sapiens_hsa00650	0.20236348
96	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.18065650
97	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.16505186
98	Oocyte meiosis_Homo sapiens_hsa04114	0.16320421
99	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.16290942
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.16015680

NDUFAF4P3

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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