ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	water-soluble vitamin biosynthetic process (GO:0042364)	6.79847084
2	DNA deamination (GO:0045006)	5.20030808
3	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	4.57156247
4	positive regulation of male gonad development (GO:2000020)	4.46785687
5	relaxation of smooth muscle (GO:0044557)	4.42802918
6	platelet dense granule organization (GO:0060155)	4.32159772
7	cell wall macromolecule catabolic process (GO:0016998)	4.30793148
8	neuron fate determination (GO:0048664)	4.08896843
9	sequestering of actin monomers (GO:0042989)	4.08033711
10	energy homeostasis (GO:0097009)	4.04213943
11	rRNA modification (GO:0000154)	4.02828315
12	L-ascorbic acid metabolic process (GO:0019852)	3.95170811
13	rRNA methylation (GO:0031167)	3.80581756
14	amino acid salvage (GO:0043102)	3.75181645
15	L-methionine salvage (GO:0071267)	3.75181645
16	L-methionine biosynthetic process (GO:0071265)	3.75181645
17	fucose catabolic process (GO:0019317)	3.73849599
18	L-fucose metabolic process (GO:0042354)	3.73849599
19	L-fucose catabolic process (GO:0042355)	3.73849599
20	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	3.73365054
21	signal peptide processing (GO:0006465)	3.61440718
22	nucleotide transmembrane transport (GO:1901679)	3.60632909
23	cell wall macromolecule metabolic process (GO:0044036)	3.58903143
24	positive regulation of oligodendrocyte differentiation (GO:0048714)	3.53253695
25	transcription elongation from RNA polymerase I promoter (GO:0006362)	3.48117135
26	behavioral response to nicotine (GO:0035095)	3.47507730
27	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.47379252
28	xenobiotic catabolic process (GO:0042178)	3.43142537
29	response to xenobiotic stimulus (GO:0009410)	3.40647837
30	artery smooth muscle contraction (GO:0014824)	3.40523750
31	regulation of male gonad development (GO:2000018)	3.34214058
32	base-excision repair, AP site formation (GO:0006285)	3.31409749
33	peptidyl-histidine modification (GO:0018202)	3.21616923
34	positive regulation of prostaglandin secretion (GO:0032308)	3.20541748
35	glycosylceramide metabolic process (GO:0006677)	3.16049761
36	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.13117291
37	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.11380088
38	regulation of respiratory system process (GO:0044065)	3.03072086
39	substrate-independent telencephalic tangential migration (GO:0021826)	3.01814371
40	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	3.01814371
41	cytidine deamination (GO:0009972)	3.01505682
42	cytidine metabolic process (GO:0046087)	3.01505682
43	cytidine catabolic process (GO:0006216)	3.01505682
44	forebrain neuron differentiation (GO:0021879)	2.99730986
45	head development (GO:0060322)	2.97466527
46	tonic smooth muscle contraction (GO:0014820)	2.97260996
47	vitamin biosynthetic process (GO:0009110)	2.94354647
48	male meiosis (GO:0007140)	2.91674839
49	positive regulation of defense response to virus by host (GO:0002230)	2.91499369
50	lactate metabolic process (GO:0006089)	2.88956087
51	spinal cord association neuron differentiation (GO:0021527)	2.88799137
52	pseudouridine synthesis (GO:0001522)	2.88346794
53	regulation of heterotypic cell-cell adhesion (GO:0034114)	2.87474147
54	termination of RNA polymerase I transcription (GO:0006363)	2.87414502
55	mannosylation (GO:0097502)	2.86052941
56	valine metabolic process (GO:0006573)	2.82196152
57	stem cell development (GO:0048864)	2.81610458
58	aspartate family amino acid biosynthetic process (GO:0009067)	2.81372274
59	DNA demethylation (GO:0080111)	2.81021969
60	cerebral cortex radially oriented cell migration (GO:0021799)	2.77809214
61	cellular response to interferon-beta (GO:0035458)	2.76770568
62	protein deneddylation (GO:0000338)	2.76001043
63	nonmotile primary cilium assembly (GO:0035058)	2.74909971
64	phosphorelay signal transduction system (GO:0000160)	2.74243793
65	potassium ion import (GO:0010107)	2.73829924
66	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.73668382
67	aldehyde catabolic process (GO:0046185)	2.72857657
68	Sertoli cell development (GO:0060009)	2.69508387
69	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.68087863
70	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.68087863
71	left/right axis specification (GO:0070986)	2.67682494
72	regulation of non-canonical Wnt signaling pathway (GO:2000050)	2.67351943
73	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-	2.66062773
74	somite development (GO:0061053)	2.65780281
75	neural crest cell development (GO:0014032)	2.64933147
76	histamine secretion (GO:0001821)	2.64586416
77	pyrimidine nucleotide catabolic process (GO:0006244)	2.61221513
78	forebrain morphogenesis (GO:0048853)	2.60319465
79	regulation of interleukin-8 secretion (GO:2000482)	2.57616725
80	regulation of prostaglandin secretion (GO:0032306)	2.57161632
81	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.55659180
82	transcription initiation from RNA polymerase I promoter (GO:0006361)	2.51580058
83	methionine biosynthetic process (GO:0009086)	2.51045274
84	negative regulation of smooth muscle contraction (GO:0045986)	2.49849358
85	ribosomal small subunit assembly (GO:0000028)	2.48848127
86	anterograde synaptic vesicle transport (GO:0048490)	2.48526062
87	transcription from mitochondrial promoter (GO:0006390)	2.48460741
88	serine family amino acid catabolic process (GO:0009071)	2.47791752
89	S-adenosylmethionine metabolic process (GO:0046500)	2.46618781
90	proteasome assembly (GO:0043248)	2.46088359
91	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	2.45652103
92	protein peptidyl-prolyl isomerization (GO:0000413)	2.44057139
93	male sex determination (GO:0030238)	2.44040180
94	kynurenine metabolic process (GO:0070189)	2.43495485
95	branched-chain amino acid catabolic process (GO:0009083)	2.42993983
96	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.40806626
97	mesenchymal cell development (GO:0014031)	2.40581747
98	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.40502201
99	gamma-aminobutyric acid transport (GO:0015812)	2.40499541
100	cilium or flagellum-dependent cell motility (GO:0001539)	2.39171525

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	4.05110770
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.04366527
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.51009369
4	FLI1_27457419_Chip-Seq_LIVER_Mouse	3.30180132
5	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	3.04779746
6	VDR_22108803_ChIP-Seq_LS180_Human	2.97670801
7	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.96727283
8	EWS_26573619_Chip-Seq_HEK293_Human	2.92209224
9	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.47361768
10	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.34804355
11	P300_19829295_ChIP-Seq_ESCs_Human	2.27635434
12	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.26110103
13	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.13338556
14	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.08329655
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.06105627
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.04594766
17	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.04456832
18	PCGF2_27294783_Chip-Seq_NPCs_Mouse	2.00759911
19	ZNF274_21170338_ChIP-Seq_K562_Hela	1.98763570
20	FUS_26573619_Chip-Seq_HEK293_Human	1.98667573
21	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.97068591
22	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.94581533
23	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.94553493
24	IRF1_19129219_ChIP-ChIP_H3396_Human	1.90614917
25	ELK1_19687146_ChIP-ChIP_HELA_Human	1.88319412
26	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.87753161
27	ER_23166858_ChIP-Seq_MCF-7_Human	1.84767679
28	CBP_20019798_ChIP-Seq_JUKART_Human	1.66798532
29	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.66798532
30	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.62230769
31	TAF15_26573619_Chip-Seq_HEK293_Human	1.61746630
32	TP53_22573176_ChIP-Seq_HFKS_Human	1.61048791
33	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.60325959
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.60169159
35	NANOG_19829295_ChIP-Seq_ESCs_Human	1.60161561
36	SOX2_19829295_ChIP-Seq_ESCs_Human	1.60161561
37	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.49178357
38	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.48873220
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.47201244
40	MYC_18940864_ChIP-ChIP_HL60_Human	1.45652523
41	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.44600564
42	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.42590643
43	VDR_23849224_ChIP-Seq_CD4+_Human	1.41732479
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.39319844
45	BCAT_22108803_ChIP-Seq_LS180_Human	1.37737846
46	TCF4_22108803_ChIP-Seq_LS180_Human	1.34911119
47	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.34859544
48	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.32062489
49	AR_25329375_ChIP-Seq_VCAP_Human	1.32035850
50	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.30431568
51	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.29692480
52	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.28088819
53	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.28088819
54	RNF2_27304074_Chip-Seq_NSC_Mouse	1.24221389
55	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.23211031
56	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.22945394
57	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.22576598
58	AR_20517297_ChIP-Seq_VCAP_Human	1.20440288
59	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20258128
60	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.19006125
61	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.18553191
62	AR_21572438_ChIP-Seq_LNCaP_Human	1.18552485
63	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.18416057
64	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.13890953
65	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13890953
66	EZH2_22144423_ChIP-Seq_EOC_Human	1.12760795
67	TP53_18474530_ChIP-ChIP_U2OS_Human	1.12013213
68	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.11206212
69	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.10384832
70	TCF4_23295773_ChIP-Seq_U87_Human	1.09543194
71	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.08851286
72	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.08570675
73	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.07831590
74	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.06141085
75	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05866867
76	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.05744650
77	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.05355462
78	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.05176800
79	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.05108291
80	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.04452127
81	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04159283
82	SMAD4_21799915_ChIP-Seq_A2780_Human	1.03491662
83	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.02987627
84	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.02924796
85	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.02388303
86	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.02302230
87	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.02076397
88	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.01716529
89	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.01354104
90	GATA4_25053715_ChIP-Seq_YYC3_Human	0.98755620
91	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.96617929
92	STAT3_23295773_ChIP-Seq_U87_Human	0.96503323
93	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.96263557
94	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.95355837
95	RUNX2_22187159_ChIP-Seq_PCA_Human	0.95151746
96	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.94721387
97	GATA3_26560356_Chip-Seq_TH2_Human	0.91893448
98	CDX2_22108803_ChIP-Seq_LS180_Human	0.91736183
99	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.91573558
100	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	0.89747599

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	4.59921838
2	MP0006292_abnormal_olfactory_placode	4.36952720
3	MP0002234_abnormal_pharynx_morphology	3.84025630
4	MP0009384_cardiac_valve_regurgitation	3.81904601
5	MP0009697_abnormal_copulation	2.74544428
6	MP0006054_spinal_hemorrhage	2.59340979
7	MP0005167_abnormal_blood-brain_barrier	2.54818971
8	MP0005623_abnormal_meninges_morphology	2.54335168
9	MP0000569_abnormal_digit_pigmentation	2.46243983
10	MP0000049_abnormal_middle_ear	2.41502185
11	MP0008875_abnormal_xenobiotic_pharmacok	2.34470404
12	MP0004147_increased_porphyrin_level	2.27468822
13	MP0001986_abnormal_taste_sensitivity	2.26473091
14	MP0010030_abnormal_orbit_morphology	2.14209924
15	MP0004142_abnormal_muscle_tone	2.10449001
16	MP0006082_CNS_inflammation	2.08727295
17	MP0000537_abnormal_urethra_morphology	2.04297484
18	MP0004885_abnormal_endolymph	2.01962413
19	MP0001529_abnormal_vocalization	1.99942875
20	MP0006276_abnormal_autonomic_nervous	1.95075152
21	MP0002938_white_spotting	1.91222568
22	MP0004084_abnormal_cardiac_muscle	1.90058235
23	MP0003137_abnormal_impulse_conducting	1.85731864
24	MP0002254_reproductive_system_inflammat	1.83902188
25	MP0001873_stomach_inflammation	1.78492828
26	MP0000516_abnormal_urinary_system	1.76968510
27	MP0005367_renal/urinary_system_phenotyp	1.76968510
28	MP0003941_abnormal_skin_development	1.69809903
29	MP0010368_abnormal_lymphatic_system	1.69710472
30	MP0005551_abnormal_eye_electrophysiolog	1.68848030
31	MP0005646_abnormal_pituitary_gland	1.62168019
32	MP0008775_abnormal_heart_ventricle	1.60337687
33	MP0003878_abnormal_ear_physiology	1.59826811
34	MP0005377_hearing/vestibular/ear_phenot	1.59826811
35	MP0008872_abnormal_physiological_respon	1.59116651
36	MP0005360_urolithiasis	1.53831728
37	MP0000631_abnormal_neuroendocrine_gland	1.48530521
38	MP0003828_pulmonary_edema	1.47598060
39	MP0002876_abnormal_thyroid_physiology	1.46613990
40	MP0003938_abnormal_ear_development	1.37151629
41	MP0000613_abnormal_salivary_gland	1.29601138
42	MP0004043_abnormal_pH_regulation	1.28162308
43	MP0001485_abnormal_pinna_reflex	1.24420807
44	MP0005187_abnormal_penis_morphology	1.24299100
45	MP0001324_abnormal_eye_pigmentation	1.23759905
46	MP0002295_abnormal_pulmonary_circulatio	1.23601031
47	MP0003195_calcinosis	1.18880959
48	MP0000685_abnormal_immune_system	1.10618900
49	MP0004085_abnormal_heartbeat	1.08908665
50	MP0000427_abnormal_hair_cycle	1.08419897
51	MP0006138_congestive_heart_failure	1.05391265
52	MP0003638_abnormal_response/metabolism_	1.02750176
53	MP0004215_abnormal_myocardial_fiber	1.01837929
54	MP0003186_abnormal_redox_activity	0.99438037
55	MP0004742_abnormal_vestibular_system	0.97710530
56	MP0005595_abnormal_vascular_smooth	0.97637425
57	MP0001905_abnormal_dopamine_level	0.96623490
58	MP0003567_abnormal_fetal_cardiomyocyte	0.93754023
59	MP0000538_abnormal_urinary_bladder	0.90537828
60	MP0001293_anophthalmia	0.88390647
61	MP0000566_synostosis	0.87461606
62	MP0005584_abnormal_enzyme/coenzyme_acti	0.87318319
63	MP0000230_abnormal_systemic_arterial	0.86421957
64	MP0000428_abnormal_craniofacial_morphol	0.86149237
65	MP0003936_abnormal_reproductive_system	0.84929672
66	MP0001663_abnormal_digestive_system	0.84495692
67	MP0003693_abnormal_embryo_hatching	0.83053963
68	MP0001346_abnormal_lacrimal_gland	0.82158395
69	MP0002638_abnormal_pupillary_reflex	0.81814911
70	MP0005671_abnormal_response_to	0.81460045
71	MP0008995_early_reproductive_senescence	0.78698564
72	MP0000372_irregular_coat_pigmentation	0.78040795
73	MP0005084_abnormal_gallbladder_morpholo	0.77954113
74	MP0005171_absent_coat_pigmentation	0.77593515
75	MP0001879_abnormal_lymphatic_vessel	0.76682412
76	MP0001764_abnormal_homeostasis	0.75737574
77	MP0001790_abnormal_immune_system	0.74806695
78	MP0005387_immune_system_phenotype	0.74806695
79	MP0003724_increased_susceptibility_to	0.74696432
80	MP0001119_abnormal_female_reproductive	0.73952435
81	MP0009745_abnormal_behavioral_response	0.73649036
82	MP0004145_abnormal_muscle_electrophysio	0.73216911
83	MP0000647_abnormal_sebaceous_gland	0.73206385
84	MP0002272_abnormal_nervous_system	0.71410690
85	MP0005253_abnormal_eye_physiology	0.71384900
86	MP0009764_decreased_sensitivity_to	0.70871900
87	MP0003119_abnormal_digestive_system	0.69514997
88	MP0002282_abnormal_trachea_morphology	0.67082236
89	MP0005195_abnormal_posterior_eye	0.65384753
90	MP0004381_abnormal_hair_follicle	0.64708167
91	MP0002752_abnormal_somatic_nervous	0.64568301
92	MP0003866_abnormal_defecation	0.63791769
93	MP0001501_abnormal_sleep_pattern	0.63519153
94	MP0005391_vision/eye_phenotype	0.63267141
95	MP0005389_reproductive_system_phenotype	0.62710107
96	MP0005075_abnormal_melanosome_morpholog	0.61299032
97	MP0005381_digestive/alimentary_phenotyp	0.60528369
98	MP0003937_abnormal_limbs/digits/tail_de	0.60247562
99	MP0008789_abnormal_olfactory_epithelium	0.58349472
100	MP0003786_premature_aging	0.58237394

Predicted human phenotypes

Rank	Gene Set	Z-score
1	True hermaphroditism (HP:0010459)	5.56237454
2	B lymphocytopenia (HP:0010976)	4.66283805
3	Abnormality of midbrain morphology (HP:0002418)	4.51513601
4	Molar tooth sign on MRI (HP:0002419)	4.51513601
5	Panhypogammaglobulinemia (HP:0003139)	4.37107404
6	Abnormality of B cell number (HP:0010975)	4.30109430
7	Hypoplasia of the thymus (HP:0000778)	3.90396614
8	Hyperglycinemia (HP:0002154)	3.85155852
9	Hypoproteinemia (HP:0003075)	3.57381096
10	Severe combined immunodeficiency (HP:0004430)	3.53465861
11	Thyroiditis (HP:0100646)	3.42577989
12	Pancreatic cysts (HP:0001737)	3.34582059
13	Chronic mucocutaneous candidiasis (HP:0002728)	3.29998575
14	Recurrent cutaneous fungal infections (HP:0011370)	3.29998575
15	Pancreatic fibrosis (HP:0100732)	3.09770095
16	Abnormality of the labia minora (HP:0012880)	3.06977028
17	Male pseudohermaphroditism (HP:0000037)	2.94582202
18	Entropion (HP:0000621)	2.93609430
19	Type II lissencephaly (HP:0007260)	2.89380817
20	Abnormality of glycine metabolism (HP:0010895)	2.89279846
21	Abnormality of serine family amino acid metabolism (HP:0010894)	2.89279846
22	3-Methylglutaconic aciduria (HP:0003535)	2.84909252
23	Nephronophthisis (HP:0000090)	2.80439148
24	Abnormal sex determination (HP:0012244)	2.76811868
25	Sex reversal (HP:0012245)	2.76811868
26	Congenital, generalized hypertrichosis (HP:0004540)	2.66761953
27	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.63136139
28	Abnormality of alanine metabolism (HP:0010916)	2.63136139
29	Hyperalaninemia (HP:0003348)	2.63136139
30	IgG deficiency (HP:0004315)	2.61052077
31	Combined immunodeficiency (HP:0005387)	2.57892777
32	Hyperinsulinemic hypoglycemia (HP:0000825)	2.57879787
33	Acute encephalopathy (HP:0006846)	2.54031743
34	Hypoplasia of the pons (HP:0012110)	2.51652893
35	Abnormality of the pons (HP:0007361)	2.50596532
36	Hyperglycinuria (HP:0003108)	2.49498990
37	Cystic liver disease (HP:0006706)	2.40704530
38	Fibular aplasia (HP:0002990)	2.39560601
39	Opisthotonus (HP:0002179)	2.39225248
40	Bile duct proliferation (HP:0001408)	2.39012655
41	Abnormal biliary tract physiology (HP:0012439)	2.39012655
42	Stomatitis (HP:0010280)	2.37550016
43	Bilateral microphthalmos (HP:0007633)	2.35503337
44	Arthropathy (HP:0003040)	2.31970787
45	Anencephaly (HP:0002323)	2.31331264
46	Tented upper lip vermilion (HP:0010804)	2.30622523
47	Methylmalonic acidemia (HP:0002912)	2.27717158
48	Palpebral edema (HP:0100540)	2.27394293
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.27049638
50	Abnormal hemoglobin (HP:0011902)	2.26738568
51	Abnormality of proline metabolism (HP:0010907)	2.24842999
52	Hydroxyprolinuria (HP:0003080)	2.24842999
53	Abnormality of the renal medulla (HP:0100957)	2.24744813
54	Autoimmune thrombocytopenia (HP:0001973)	2.23642028
55	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.23328795
56	Recurrent fungal infections (HP:0002841)	2.18368273
57	Short hallux (HP:0010109)	2.14068594
58	Short tibia (HP:0005736)	2.13630069
59	Abnormality of DNA repair (HP:0003254)	2.13101266
60	Poikiloderma (HP:0001029)	2.10735552
61	Abnormality of serum amino acid levels (HP:0003112)	2.07236775
62	Acute necrotizing encephalopathy (HP:0006965)	2.06954669
63	Erythroderma (HP:0001019)	2.06331952
64	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.02260502
65	Increased corneal curvature (HP:0100692)	2.02100465
66	Keratoconus (HP:0000563)	2.02100465
67	Aplasia/Hypoplasia of the hallux (HP:0008362)	2.00735761
68	Abnormality of the renal cortex (HP:0011035)	1.99901010
69	Eosinophilia (HP:0001880)	1.98922376
70	Abnormality of eosinophils (HP:0001879)	1.98699861
71	Polyuria (HP:0000103)	1.97878866
72	Overriding aorta (HP:0002623)	1.97373655
73	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.96673436
74	Dyskinesia (HP:0100660)	1.94437686
75	Aplasia/Hypoplasia involving the carpal bones (HP:0006502)	1.93116003
76	Type 2 muscle fiber atrophy (HP:0003554)	1.92838080
77	Sclerocornea (HP:0000647)	1.91040026
78	Congenital stationary night blindness (HP:0007642)	1.90411310
79	Rhinitis (HP:0012384)	1.89648929
80	Large for gestational age (HP:0001520)	1.89274306
81	Mitochondrial inheritance (HP:0001427)	1.85556218
82	Abnormality of the pubic bones (HP:0003172)	1.85135252
83	Polyphagia (HP:0002591)	1.84726517
84	Congenital hepatic fibrosis (HP:0002612)	1.81973808
85	Stenosis of the external auditory canal (HP:0000402)	1.81850386
86	Abnormal delayed hypersensitivity skin test (HP:0002963)	1.81749244
87	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.81654689
88	Attenuation of retinal blood vessels (HP:0007843)	1.81147548
89	CNS demyelination (HP:0007305)	1.79879484
90	Episodic fever (HP:0001954)	1.79596350
91	Polydipsia (HP:0001959)	1.78557916
92	Abnormal drinking behavior (HP:0030082)	1.78557916
93	Gonadal dysgenesis (HP:0000133)	1.78092760
94	Elevated erythrocyte sedimentation rate (HP:0003565)	1.77508958
95	Inability to walk (HP:0002540)	1.76345452
96	Lipid accumulation in hepatocytes (HP:0006561)	1.73251309
97	Hepatocellular necrosis (HP:0001404)	1.72829237
98	Optic nerve hypoplasia (HP:0000609)	1.72469342
99	Recurrent bronchitis (HP:0002837)	1.71934606
100	Scrotal hypoplasia (HP:0000046)	1.71046731

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA3	8.74580189
2	MAP4K2	5.97928324
3	EIF2AK3	3.65664045
4	SIK3	2.86724440
5	TSSK6	2.80347347
6	TRIM28	2.43708792
7	MKNK1	2.05198890
8	TXK	2.05002379
9	TNIK	1.96465004
10	MST4	1.92404390
11	PNCK	1.88614769
12	AKT3	1.68361133
13	CASK	1.66449025
14	FRK	1.61583568
15	TAF1	1.60202889
16	MAPKAPK5	1.57343532
17	WNK3	1.57280915
18	WNK4	1.42040844
19	BMPR1B	1.37486416
20	GRK1	1.36528307
21	TGFBR1	1.30744312
22	PRKG2	1.27998823
23	NLK	1.26401619
24	BCR	1.25981494
25	NUAK1	1.25976545
26	MAPK15	1.15646056
27	LIMK1	1.10342137
28	ADRBK2	1.09624165
29	PHKG2	1.09155934
30	PHKG1	1.09155934
31	KIT	1.06714283
32	TLK1	1.04240156
33	TAOK3	0.98833170
34	DYRK2	0.94195664
35	MAPK7	0.93481675
36	CCNB1	0.87787025
37	GRK6	0.86082512
38	BRD4	0.81522150
39	MAP3K13	0.77231207
40	IKBKE	0.76987021
41	CDK8	0.75202715
42	EIF2AK2	0.72760668
43	IKBKB	0.72685060
44	VRK1	0.72073315
45	STK38L	0.71623651
46	BCKDK	0.71226447
47	MUSK	0.70566853
48	NME1	0.67575612
49	VRK2	0.66672534
50	PIK3CG	0.65816350
51	WEE1	0.63368091
52	RPS6KA5	0.62945452
53	ZAK	0.62556480
54	KSR1	0.61948663
55	MARK3	0.59304760
56	PAK3	0.58635935
57	PASK	0.54481181
58	SRPK1	0.51541673
59	MET	0.50337535
60	TIE1	0.48333708
61	CSNK1A1	0.47462462
62	EPHB2	0.47063078
63	TEC	0.45174920
64	TNK2	0.45086423
65	PTK2B	0.44485051
66	PRKCE	0.44351242
67	ITK	0.43979166
68	ADRBK1	0.40911293
69	OXSR1	0.40182692
70	PRKCQ	0.36056493
71	PIM2	0.35813814
72	CAMK2A	0.35584307
73	EIF2AK1	0.34995037
74	FER	0.34777821
75	CSNK2A2	0.34622858
76	CHUK	0.34237234
77	BTK	0.32853400
78	PAK2	0.31708268
79	NTRK1	0.31378655
80	MAP3K4	0.30757332
81	ATR	0.30661034
82	DAPK2	0.30469553
83	IGF1R	0.30286184
84	ALK	0.30109796
85	INSRR	0.29049521
86	PRKCI	0.28654030
87	PLK3	0.27916984
88	PRKACA	0.27759643
89	FGFR4	0.27692939
90	PIM1	0.26182376
91	EGFR	0.24549972
92	GRK5	0.24349578
93	LCK	0.24191631
94	MAP2K7	0.23617462
95	DAPK3	0.23470993
96	PRKAA2	0.23011152
97	FES	0.22503644
98	MAP2K6	0.22137704
99	CAMK2G	0.19921691
100	STK3	0.18139006

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	3.30069689
2	Primary immunodeficiency_Homo sapiens_hsa05340	3.12265565
3	Propanoate metabolism_Homo sapiens_hsa00640	3.07326179
4	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.88517216
5	Basal transcription factors_Homo sapiens_hsa03022	2.64255735
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.45888072
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.42824538
8	Sulfur metabolism_Homo sapiens_hsa00920	2.19458650
9	Circadian rhythm_Homo sapiens_hsa04710	2.17068197
10	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.11625423
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.09146297
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.01493300
13	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.00626457
14	RNA degradation_Homo sapiens_hsa03018	1.91160880
15	Ribosome_Homo sapiens_hsa03010	1.90681211
16	Proteasome_Homo sapiens_hsa03050	1.88380831
17	Fanconi anemia pathway_Homo sapiens_hsa03460	1.68698865
18	ABC transporters_Homo sapiens_hsa02010	1.64682126
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.64632395
20	Nitrogen metabolism_Homo sapiens_hsa00910	1.64239039
21	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.62530890
22	Caffeine metabolism_Homo sapiens_hsa00232	1.60882439
23	Protein export_Homo sapiens_hsa03060	1.57056190
24	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.56181993
25	Nucleotide excision repair_Homo sapiens_hsa03420	1.46572019
26	Oxidative phosphorylation_Homo sapiens_hsa00190	1.41304269
27	Phototransduction_Homo sapiens_hsa04744	1.40744664
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.35997699
29	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.33401347
30	Tryptophan metabolism_Homo sapiens_hsa00380	1.32185599
31	Salivary secretion_Homo sapiens_hsa04970	1.30359253
32	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.29593324
33	Butanoate metabolism_Homo sapiens_hsa00650	1.27552784
34	Retinol metabolism_Homo sapiens_hsa00830	1.27472949
35	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.26013298
36	Fat digestion and absorption_Homo sapiens_hsa04975	1.22360579
37	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.15771424
38	Chemical carcinogenesis_Homo sapiens_hsa05204	1.13959626
39	Parkinsons disease_Homo sapiens_hsa05012	1.13148089
40	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.12531149
41	One carbon pool by folate_Homo sapiens_hsa00670	1.08764574
42	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.98939848
43	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.97117045
44	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.96712399
45	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.96307742
46	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.96250953
47	Olfactory transduction_Homo sapiens_hsa04740	0.95798071
48	Glycerolipid metabolism_Homo sapiens_hsa00561	0.95751906
49	Purine metabolism_Homo sapiens_hsa00230	0.94966240
50	Regulation of autophagy_Homo sapiens_hsa04140	0.93126366
51	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.92158993
52	Ether lipid metabolism_Homo sapiens_hsa00565	0.91617419
53	Nicotine addiction_Homo sapiens_hsa05033	0.91353943
54	Fatty acid elongation_Homo sapiens_hsa00062	0.90393791
55	RNA polymerase_Homo sapiens_hsa03020	0.90337379
56	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.88858768
57	Mineral absorption_Homo sapiens_hsa04978	0.88533286
58	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.88124134
59	Spliceosome_Homo sapiens_hsa03040	0.85346982
60	beta-Alanine metabolism_Homo sapiens_hsa00410	0.82520163
61	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.81738289
62	Antigen processing and presentation_Homo sapiens_hsa04612	0.81545296
63	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.79812756
64	Huntingtons disease_Homo sapiens_hsa05016	0.77909568
65	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.73245540
66	Basal cell carcinoma_Homo sapiens_hsa05217	0.70408250
67	Non-homologous end-joining_Homo sapiens_hsa03450	0.68849082
68	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.68229424
69	Pyruvate metabolism_Homo sapiens_hsa00620	0.63226767
70	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.60088261
71	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.56632456
72	Metabolic pathways_Homo sapiens_hsa01100	0.55672078
73	Selenocompound metabolism_Homo sapiens_hsa00450	0.55439141
74	Morphine addiction_Homo sapiens_hsa05032	0.55139675
75	Graft-versus-host disease_Homo sapiens_hsa05332	0.54478889
76	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.51874369
77	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.51521182
78	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.51360543
79	Homologous recombination_Homo sapiens_hsa03440	0.50610583
80	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.49677162
81	Folate biosynthesis_Homo sapiens_hsa00790	0.47920381
82	Allograft rejection_Homo sapiens_hsa05330	0.46559669
83	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.46353593
84	Peroxisome_Homo sapiens_hsa04146	0.45185431
85	Alzheimers disease_Homo sapiens_hsa05010	0.44344956
86	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.43258987
87	Circadian entrainment_Homo sapiens_hsa04713	0.42270919
88	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.40294959
89	Glutathione metabolism_Homo sapiens_hsa00480	0.38892562
90	Cardiac muscle contraction_Homo sapiens_hsa04260	0.38249936
91	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.38244394
92	Fatty acid degradation_Homo sapiens_hsa00071	0.36167170
93	RNA transport_Homo sapiens_hsa03013	0.34903043
94	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.34608321
95	Taste transduction_Homo sapiens_hsa04742	0.32582375
96	Base excision repair_Homo sapiens_hsa03410	0.32414036
97	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.31575085
98	Histidine metabolism_Homo sapiens_hsa00340	0.30972364
99	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.27526784
100	Cocaine addiction_Homo sapiens_hsa05030	0.27500777

EEF1A1P20

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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