ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of mitochondrial translation (GO:0070129)	5.17071198
2	water-soluble vitamin biosynthetic process (GO:0042364)	4.95502818
3	mitochondrial respiratory chain complex assembly (GO:0033108)	4.80778002
4	cellular ketone body metabolic process (GO:0046950)	4.77320946
5	protein complex biogenesis (GO:0070271)	4.65307160
6	peristalsis (GO:0030432)	4.50190568
7	respiratory chain complex IV assembly (GO:0008535)	4.29716226
8	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.24209104
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.24209104
10	NADH dehydrogenase complex assembly (GO:0010257)	4.24209104
11	ketone body metabolic process (GO:1902224)	4.15954417
12	cytochrome complex assembly (GO:0017004)	4.13739801
13	protein-cofactor linkage (GO:0018065)	4.09778384
14	pteridine-containing compound biosynthetic process (GO:0042559)	3.80265814
15	prenylation (GO:0097354)	3.74747090
16	protein prenylation (GO:0018342)	3.74747090
17	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.72467804
18	kidney morphogenesis (GO:0060993)	3.66390052
19	keratinocyte development (GO:0003334)	3.64312288
20	basic amino acid transport (GO:0015802)	3.57401781
21	cysteine metabolic process (GO:0006534)	3.54918694
22	fatty acid transmembrane transport (GO:1902001)	3.53447973
23	mitochondrial RNA metabolic process (GO:0000959)	3.53069827
24	cardiac right ventricle morphogenesis (GO:0003215)	3.39314604
25	ubiquinone biosynthetic process (GO:0006744)	3.38731546
26	musculoskeletal movement (GO:0050881)	3.36265818
27	multicellular organismal movement (GO:0050879)	3.36265818
28	phasic smooth muscle contraction (GO:0014821)	3.32747603
29	regulation of mitotic spindle checkpoint (GO:1903504)	3.25936154
30	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.25936154
31	proteasome assembly (GO:0043248)	3.24413585
32	cobalamin metabolic process (GO:0009235)	3.19591283
33	carnitine shuttle (GO:0006853)	3.17058550
34	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.15693642
35	auditory receptor cell differentiation (GO:0042491)	3.09702808
36	ATP synthesis coupled proton transport (GO:0015986)	3.06317298
37	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.06317298
38	negative regulation of hormone biosynthetic process (GO:0032353)	3.05797366
39	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.03791104
40	regulation of glucokinase activity (GO:0033131)	3.02576297
41	regulation of hexokinase activity (GO:1903299)	3.02576297
42	urinary tract smooth muscle contraction (GO:0014848)	3.00066985
43	ubiquinone metabolic process (GO:0006743)	2.98233772
44	cullin deneddylation (GO:0010388)	2.98098498
45	mitochondrial DNA replication (GO:0006264)	2.95499372
46	protein localization to Golgi apparatus (GO:0034067)	2.93932767
47	regulation of male gonad development (GO:2000018)	2.91954390
48	respiratory electron transport chain (GO:0022904)	2.90507527
49	amino-acid betaine transport (GO:0015838)	2.90111934
50	carnitine transport (GO:0015879)	2.90111934
51	electron transport chain (GO:0022900)	2.88842883
52	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.88168337
53	lactate metabolic process (GO:0006089)	2.88137356
54	glutathione derivative metabolic process (GO:1901685)	2.86087563
55	glutathione derivative biosynthetic process (GO:1901687)	2.86087563
56	quinone biosynthetic process (GO:1901663)	2.81914352
57	cornea development in camera-type eye (GO:0061303)	2.80528894
58	L-ascorbic acid metabolic process (GO:0019852)	2.79409295
59	glandular epithelial cell differentiation (GO:0002067)	2.79315232
60	oxidative demethylation (GO:0070989)	2.78469215
61	termination of RNA polymerase III transcription (GO:0006386)	2.77989898
62	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.77989898
63	nucleobase biosynthetic process (GO:0046112)	2.77530011
64	establishment of apical/basal cell polarity (GO:0035089)	2.77334043
65	homocysteine metabolic process (GO:0050667)	2.74799700
66	vitamin biosynthetic process (GO:0009110)	2.73391571
67	L-phenylalanine metabolic process (GO:0006558)	2.70242463
68	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.70242463
69	L-methionine salvage (GO:0071267)	2.64970137
70	L-methionine biosynthetic process (GO:0071265)	2.64970137
71	amino acid salvage (GO:0043102)	2.64970137
72	negative regulation of hormone metabolic process (GO:0032351)	2.62783289
73	positive regulation of triglyceride biosynthetic process (GO:0010867)	2.62655389
74	L-phenylalanine catabolic process (GO:0006559)	2.60538414
75	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.60538414
76	hydrogen ion transmembrane transport (GO:1902600)	2.60201646
77	rRNA modification (GO:0000154)	2.59566417
78	sulfur amino acid biosynthetic process (GO:0000097)	2.58944203
79	DNA deamination (GO:0045006)	2.55924744
80	pseudouridine synthesis (GO:0001522)	2.54020686
81	mesenchymal to epithelial transition (GO:0060231)	2.52276829
82	protein deneddylation (GO:0000338)	2.52164893
83	mitochondrial calcium ion transport (GO:0006851)	2.50525815
84	S-adenosylmethionine metabolic process (GO:0046500)	2.50204734
85	polyol catabolic process (GO:0046174)	2.49506965
86	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.48145492
87	methionine biosynthetic process (GO:0009086)	2.46889725
88	nephron tubule morphogenesis (GO:0072078)	2.46624549
89	nephron epithelium morphogenesis (GO:0072088)	2.46624549
90	purine nucleobase biosynthetic process (GO:0009113)	2.45510534
91	mannosylation (GO:0097502)	2.44364444
92	regulation of triglyceride catabolic process (GO:0010896)	2.44043647
93	DNA replication checkpoint (GO:0000076)	2.43720287
94	toxin metabolic process (GO:0009404)	2.43081329
95	regulation of cell proliferation involved in kidney development (GO:1901722)	2.42777077
96	regulation of triglyceride biosynthetic process (GO:0010866)	2.40079961
97	carnitine transmembrane transport (GO:1902603)	2.39591573
98	fucose catabolic process (GO:0019317)	2.39069740
99	L-fucose metabolic process (GO:0042354)	2.39069740
100	L-fucose catabolic process (GO:0042355)	2.39069740

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	3.66241114
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.65074064
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.88708032
4	ZNF274_21170338_ChIP-Seq_K562_Hela	2.85314363
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.77907139
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.76101740
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.71843688
8	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.66259307
9	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.43874714
10	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.20637000
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.09808600
12	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.08482494
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.07186779
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.06264256
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.05354854
16	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.03373865
17	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.98498065
18	GBX2_23144817_ChIP-Seq_PC3_Human	1.83871779
19	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.81313430
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79533330
21	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.79096567
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.76507701
23	VDR_23849224_ChIP-Seq_CD4+_Human	1.75274667
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.68627385
25	TP53_22573176_ChIP-Seq_HFKS_Human	1.66615534
26	ELK1_19687146_ChIP-ChIP_HELA_Human	1.61911818
27	AR_20517297_ChIP-Seq_VCAP_Human	1.56681940
28	BCAT_22108803_ChIP-Seq_LS180_Human	1.55204872
29	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.53702037
30	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.52536178
31	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.49550499
32	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.47746414
33	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.45950937
34	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.45950937
35	HOXB7_26014856_ChIP-Seq_BT474_Human	1.43263487
36	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43224063
37	P300_19829295_ChIP-Seq_ESCs_Human	1.42637892
38	EWS_26573619_Chip-Seq_HEK293_Human	1.39398573
39	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.39037066
40	ER_23166858_ChIP-Seq_MCF-7_Human	1.38487704
41	GATA1_22025678_ChIP-Seq_K562_Human	1.35606296
42	CDX2_22108803_ChIP-Seq_LS180_Human	1.33043484
43	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.32419083
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.31945355
45	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.31598679
46	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.30169081
47	SOX2_19829295_ChIP-Seq_ESCs_Human	1.29775930
48	NANOG_19829295_ChIP-Seq_ESCs_Human	1.29775930
49	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.28524095
50	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.27810877
51	FOXP3_21729870_ChIP-Seq_TREG_Human	1.26862675
52	FUS_26573619_Chip-Seq_HEK293_Human	1.24692944
53	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.23617075
54	RBPJ_21746931_ChIP-Seq_IB4_Human	1.23009214
55	HTT_18923047_ChIP-ChIP_STHdh_Human	1.22671707
56	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.22098492
57	PHF8_20622853_ChIP-Seq_HELA_Human	1.21212636
58	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.19894899
59	GATA4_25053715_ChIP-Seq_YYC3_Human	1.18239503
60	MYC_18940864_ChIP-ChIP_HL60_Human	1.17765806
61	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.17242096
62	TCF4_22108803_ChIP-Seq_LS180_Human	1.16496981
63	KDM5A_27292631_Chip-Seq_BREAST_Human	1.16361055
64	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.15830642
65	TFEB_21752829_ChIP-Seq_HELA_Human	1.15450374
66	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.15203793
67	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.14629789
68	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.13977666
69	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.13279907
70	ETV1_20927104_ChIP-Seq_GIST48_Human	1.12847216
71	NCOR_22424771_ChIP-Seq_293T_Human	1.11612782
72	NFYB_21822215_ChIP-Seq_K562_Human	1.11188476
73	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.10592669
74	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.09796088
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.09143121
76	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.09041670
77	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.07989508
78	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.07025158
79	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.06558212
80	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.05881917
81	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.05513877
82	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.05427434
83	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.02907577
84	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.02328904
85	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.02062977
86	CBP_20019798_ChIP-Seq_JUKART_Human	1.02062977
87	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.01937451
88	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.99764138
89	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.98410727
90	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.97700491
91	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.96998204
92	NFYA_21822215_ChIP-Seq_K562_Human	0.96179800
93	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.94961869
94	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.94914662
95	SMAD4_21799915_ChIP-Seq_A2780_Human	0.94079774
96	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.93903223
97	STAT3_23295773_ChIP-Seq_U87_Human	0.93324111
98	TCF4_23295773_ChIP-Seq_U87_Human	0.92779809
99	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.91920067
100	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.91485165

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	4.72371992
2	MP0009780_abnormal_chondrocyte_physiolo	3.06198610
3	MP0003806_abnormal_nucleotide_metabolis	2.90797192
4	MP0002909_abnormal_adrenal_gland	2.83206493
5	MP0008875_abnormal_xenobiotic_pharmacok	2.70301899
6	MP0003283_abnormal_digestive_organ	2.36125663
7	MP0006072_abnormal_retinal_apoptosis	2.35590922
8	MP0005365_abnormal_bile_salt	2.33516360
9	MP0006036_abnormal_mitochondrial_physio	2.25248545
10	MP0001764_abnormal_homeostasis	2.15675090
11	MP0001661_extended_life_span	2.13426075
12	MP0004019_abnormal_vitamin_homeostasis	2.00551315
13	MP0005332_abnormal_amino_acid	1.98072396
14	MP0008058_abnormal_DNA_repair	1.95404674
15	MP0005646_abnormal_pituitary_gland	1.91975396
16	MP0006035_abnormal_mitochondrial_morpho	1.90277062
17	MP0003252_abnormal_bile_duct	1.87067292
18	MP0008872_abnormal_physiological_respon	1.86367680
19	MP0000427_abnormal_hair_cycle	1.77191565
20	MP0002254_reproductive_system_inflammat	1.77061592
21	MP0009046_muscle_twitch	1.75499627
22	MP0010352_gastrointestinal_tract_polyps	1.74393961
23	MP0002876_abnormal_thyroid_physiology	1.71317168
24	MP0002693_abnormal_pancreas_physiology	1.71041927
25	MP0002938_white_spotting	1.66309763
26	MP0001944_abnormal_pancreas_morphology	1.64347558
27	MP0009840_abnormal_foam_cell	1.63010902
28	MP0002837_dystrophic_cardiac_calcinosis	1.58288769
29	MP0001756_abnormal_urination	1.53156205
30	MP0010329_abnormal_lipoprotein_level	1.51842170
31	MP0005551_abnormal_eye_electrophysiolog	1.51020950
32	MP0001666_abnormal_nutrient_absorption	1.50977525
33	MP0005085_abnormal_gallbladder_physiolo	1.46141793
34	MP0004484_altered_response_of	1.44968403
35	MP0000383_abnormal_hair_follicle	1.44062736
36	MP0001324_abnormal_eye_pigmentation	1.43861296
37	MP0005253_abnormal_eye_physiology	1.40394803
38	MP0003011_delayed_dark_adaptation	1.39313081
39	MP0000538_abnormal_urinary_bladder	1.39286500
40	MP0004142_abnormal_muscle_tone	1.38939974
41	MP0008877_abnormal_DNA_methylation	1.38710241
42	MP0003718_maternal_effect	1.36181806
43	MP0002272_abnormal_nervous_system	1.35999607
44	MP0001986_abnormal_taste_sensitivity	1.35304227
45	MP0004043_abnormal_pH_regulation	1.26541977
46	MP0009643_abnormal_urine_homeostasis	1.24196884
47	MP0005448_abnormal_energy_balance	1.22312465
48	MP0001968_abnormal_touch/_nociception	1.21765954
49	MP0005174_abnormal_tail_pigmentation	1.19822704
50	MP0010386_abnormal_urinary_bladder	1.19491396
51	MP0010678_abnormal_skin_adnexa	1.19023612
52	MP0004134_abnormal_chest_morphology	1.18811011
53	MP0005636_abnormal_mineral_homeostasis	1.17539595
54	MP0005670_abnormal_white_adipose	1.15601949
55	MP0009745_abnormal_behavioral_response	1.15587808
56	MP0005266_abnormal_metabolism	1.15529520
57	MP0000647_abnormal_sebaceous_gland	1.12236852
58	MP0003186_abnormal_redox_activity	1.08591722
59	MP0005408_hypopigmentation	1.06906996
60	MP0003941_abnormal_skin_development	1.06468963
61	MP0005075_abnormal_melanosome_morpholog	1.06004666
62	MP0001765_abnormal_ion_homeostasis	1.04382657
63	MP0000371_diluted_coat_color	1.04099651
64	MP0000372_irregular_coat_pigmentation	1.04055844
65	MP0003953_abnormal_hormone_level	1.02958663
66	MP0002229_neurodegeneration	1.02665215
67	MP0002102_abnormal_ear_morphology	1.01628178
68	MP0009697_abnormal_copulation	0.99356919
69	MP0003119_abnormal_digestive_system	0.97934447
70	MP0002735_abnormal_chemical_nociception	0.95283618
71	MP0000358_abnormal_cell_content/	0.94963651
72	MP0003786_premature_aging	0.94560998
73	MP0003045_fibrosis	0.92662757
74	MP0004147_increased_porphyrin_level	0.92585006
75	MP0005367_renal/urinary_system_phenotyp	0.91092457
76	MP0000516_abnormal_urinary_system	0.91092457
77	MP0000470_abnormal_stomach_morphology	0.90791569
78	MP0005084_abnormal_gallbladder_morpholo	0.90262982
79	MP0005386_behavior/neurological_phenoty	0.90043390
80	MP0004924_abnormal_behavior	0.90043390
81	MP0003890_abnormal_embryonic-extraembry	0.90015047
82	MP0005220_abnormal_exocrine_pancreas	0.89680846
83	MP0010094_abnormal_chromosome_stability	0.87438258
84	MP0001664_abnormal_digestion	0.86624322
85	MP0002557_abnormal_social/conspecific_i	0.84750213
86	MP0005395_other_phenotype	0.84647421
87	MP0003943_abnormal_hepatobiliary_system	0.84506885
88	MP0002736_abnormal_nociception_after	0.83739039
89	MP0001929_abnormal_gametogenesis	0.82431567
90	MP0005319_abnormal_enzyme/_coenzyme	0.81958471
91	MP0001501_abnormal_sleep_pattern	0.81338994
92	MP0005410_abnormal_fertilization	0.81136259
93	MP0000631_abnormal_neuroendocrine_gland	0.80831123
94	MP0001905_abnormal_dopamine_level	0.80233483
95	MP0005647_abnormal_sex_gland	0.79444763
96	MP0004510_myositis	0.79181330
97	MP0003936_abnormal_reproductive_system	0.77108590
98	MP0005376_homeostasis/metabolism_phenot	0.77009288
99	MP0002136_abnormal_kidney_physiology	0.75167791
100	MP0003942_abnormal_urinary_system	0.74640504

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of methionine metabolism (HP:0010901)	3.87358263
2	Hyperinsulinemic hypoglycemia (HP:0000825)	3.81991267
3	Methylmalonic acidemia (HP:0002912)	3.75601180
4	Hyperglycemia (HP:0003074)	3.74543572
5	Ketoacidosis (HP:0001993)	3.73871879
6	Pancreatic islet-cell hyperplasia (HP:0004510)	3.67457226
7	Large for gestational age (HP:0001520)	3.66015409
8	Birth length less than 3rd percentile (HP:0003561)	3.58453919
9	Gaze-evoked nystagmus (HP:0000640)	3.33061351
10	Acute necrotizing encephalopathy (HP:0006965)	3.32374325
11	Methylmalonic aciduria (HP:0012120)	3.26947024
12	Abnormality of aspartate family amino acid metabolism (HP:0010899)	3.14043041
13	Abnormality of sulfur amino acid metabolism (HP:0004339)	3.12778294
14	Abnormal mitochondria in muscle tissue (HP:0008316)	3.05778664
15	Decreased central vision (HP:0007663)	3.04907867
16	Progressive macrocephaly (HP:0004481)	3.04698638
17	Ketosis (HP:0001946)	3.01203415
18	Acute encephalopathy (HP:0006846)	2.97912791
19	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.92365711
20	Molar tooth sign on MRI (HP:0002419)	2.91508406
21	Abnormality of midbrain morphology (HP:0002418)	2.91508406
22	Abnormality of vitamin B metabolism (HP:0004340)	2.91250417
23	Facial diplegia (HP:0001349)	2.88447739
24	Hypomagnesemia (HP:0002917)	2.82593072
25	Increased CSF lactate (HP:0002490)	2.79662734
26	Congenital, generalized hypertrichosis (HP:0004540)	2.78324230
27	Insulin-resistant diabetes mellitus (HP:0000831)	2.77728723
28	Renal cortical cysts (HP:0000803)	2.73454793
29	Hyperglycinemia (HP:0002154)	2.71881224
30	Microretrognathia (HP:0000308)	2.66312820
31	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.64856224
32	Attenuation of retinal blood vessels (HP:0007843)	2.64263031
33	3-Methylglutaconic aciduria (HP:0003535)	2.63503364
34	Mitochondrial inheritance (HP:0001427)	2.62664692
35	Homocystinuria (HP:0002156)	2.61443596
36	Abnormality of homocysteine metabolism (HP:0010919)	2.61443596
37	Tetany (HP:0001281)	2.60479757
38	Abnormality of the renal cortex (HP:0011035)	2.58976900
39	Hypothermia (HP:0002045)	2.58872827
40	Abnormal rod and cone electroretinograms (HP:0008323)	2.58199406
41	Hamartoma of the eye (HP:0010568)	2.57933871
42	Abnormal drinking behavior (HP:0030082)	2.57590896
43	Polydipsia (HP:0001959)	2.57590896
44	Hypoglycemic coma (HP:0001325)	2.57581914
45	Abnormality of endocrine pancreas physiology (HP:0012093)	2.45456135
46	Abnormality of the pancreatic islet cells (HP:0006476)	2.45456135
47	True hermaphroditism (HP:0010459)	2.43393309
48	Cerebral edema (HP:0002181)	2.42209107
49	Lethargy (HP:0001254)	2.40720398
50	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.40407712
51	Dicarboxylic aciduria (HP:0003215)	2.40407712
52	Sex reversal (HP:0012245)	2.36563036
53	Abnormal sex determination (HP:0012244)	2.36563036
54	Abnormality of magnesium homeostasis (HP:0004921)	2.33933214
55	Palpitations (HP:0001962)	2.31864878
56	Megaloblastic anemia (HP:0001889)	2.31572024
57	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.30266266
58	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.30266266
59	Abnormal glycosylation (HP:0012345)	2.26628638
60	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.26628638
61	Abnormal protein N-linked glycosylation (HP:0012347)	2.26628638
62	Abnormal protein glycosylation (HP:0012346)	2.26628638
63	Prominent metopic ridge (HP:0005487)	2.24300741
64	Abnormality of the astrocytes (HP:0100707)	2.23527771
65	Astrocytoma (HP:0009592)	2.23527771
66	Nephronophthisis (HP:0000090)	2.23125316
67	Hypoglycemic seizures (HP:0002173)	2.22013173
68	Lipid accumulation in hepatocytes (HP:0006561)	2.21831214
69	Optic disc pallor (HP:0000543)	2.21482389
70	Sensory axonal neuropathy (HP:0003390)	2.21099132
71	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.20467042
72	Pancreatic cysts (HP:0001737)	2.20305081
73	Aplasia/hypoplasia of the uterus (HP:0008684)	2.18687316
74	Lactic acidosis (HP:0003128)	2.17700491
75	Villous atrophy (HP:0011473)	2.17476304
76	Abnormality of small intestinal villus morphology (HP:0011472)	2.17476304
77	Intestinal atresia (HP:0011100)	2.15604260
78	Abnormality of vitamin metabolism (HP:0100508)	2.14464110
79	Pendular nystagmus (HP:0012043)	2.13905829
80	Macular degeneration (HP:0000608)	2.13167515
81	Tongue fasciculations (HP:0001308)	2.10551883
82	Vacuolated lymphocytes (HP:0001922)	2.10170483
83	Tachypnea (HP:0002789)	2.09955072
84	Congenital sensorineural hearing impairment (HP:0008527)	2.09686951
85	Severe muscular hypotonia (HP:0006829)	2.07742749
86	Progressive inability to walk (HP:0002505)	2.05492444
87	Glycosuria (HP:0003076)	2.03684249
88	Abnormality of urine glucose concentration (HP:0011016)	2.03684249
89	Testicular atrophy (HP:0000029)	2.03424088
90	Increased serum lactate (HP:0002151)	2.03162462
91	Hyperalaninemia (HP:0003348)	2.01358313
92	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.01358313
93	Abnormality of alanine metabolism (HP:0010916)	2.01358313
94	Hepatocellular necrosis (HP:0001404)	1.96612741
95	Increased circulating renin level (HP:0000848)	1.94429141
96	Symptomatic seizures (HP:0011145)	1.93510239
97	Hepatic necrosis (HP:0002605)	1.92865989
98	Neuroendocrine neoplasm (HP:0100634)	1.91938456
99	Abnormality of serum amino acid levels (HP:0003112)	1.91782212
100	Dialeptic seizures (HP:0011146)	1.91338374

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.03496070
2	WNK4	4.59333992
3	STK39	3.48036580
4	MST4	3.02446232
5	NUAK1	2.50611766
6	TNIK	2.36023899
7	ACVR1B	2.33388748
8	OXSR1	2.28809485
9	PDK2	2.27254901
10	PBK	2.18353343
11	ADRBK2	2.11760625
12	NLK	1.87535972
13	STK16	1.83121069
14	CSNK1G1	1.76343561
15	STK38L	1.76143682
16	DAPK2	1.69061766
17	BRSK2	1.66511770
18	MAP3K12	1.60905798
19	STK3	1.60594459
20	WNK1	1.53818732
21	LATS1	1.50234620
22	CSNK1G3	1.34178422
23	CAMKK2	1.32809011
24	GRK1	1.31877173
25	ZAK	1.25806288
26	EPHA2	1.22611066
27	CSNK1A1L	1.21979185
28	RPS6KB2	1.17983685
29	TRPM7	1.16794795
30	NME1	1.12592757
31	PRKG2	1.07046331
32	MAP3K2	1.04767455
33	PINK1	1.04694989
34	VRK2	1.02958347
35	MAP4K2	0.98573549
36	CDC7	0.98230390
37	CSNK1G2	0.96772145
38	CAMK2D	0.96491793
39	PHKG2	0.94484566
40	PHKG1	0.94484566
41	STK4	0.93242624
42	TLK1	0.93215531
43	PASK	0.91254070
44	TAF1	0.87611937
45	DYRK3	0.86610324
46	FGFR2	0.85056557
47	INSRR	0.85005752
48	CDK19	0.84841909
49	PLK4	0.84458531
50	BCKDK	0.84042370
51	MKNK2	0.83632076
52	PRKCE	0.82983274
53	FER	0.80993120
54	IKBKB	0.78334770
55	STK38	0.76102412
56	PLK1	0.74945584
57	ADRBK1	0.74504937
58	STK24	0.70321651
59	MAP3K3	0.68277401
60	MAP2K6	0.68054658
61	ILK	0.60791059
62	MAP3K9	0.59248606
63	CSNK1A1	0.58324441
64	MYLK	0.58149905
65	WNK3	0.56350351
66	DYRK2	0.55876034
67	PTK2	0.54515710
68	PRKCG	0.53449519
69	CAMK2B	0.52877796
70	EIF2AK2	0.52793691
71	PAK3	0.51337683
72	BMPR2	0.49457267
73	MAP2K1	0.44735287
74	BRSK1	0.44322012
75	PRKCI	0.43899734
76	PTK6	0.43017538
77	ALK	0.42237626
78	BMPR1B	0.41931729
79	PTK2B	0.41896828
80	MAP3K4	0.41820585
81	RPS6KA5	0.40968926
82	TRIM28	0.40522301
83	CDC42BPA	0.39320207
84	HIPK2	0.38565163
85	PLK3	0.37525594
86	AURKB	0.37478476
87	STK11	0.36641295
88	NEK6	0.36547241
89	PRKACB	0.36472374
90	MET	0.35988424
91	PRKAA2	0.34503343
92	PIK3CA	0.34402571
93	PRKCA	0.32889008
94	CAMK2G	0.32779396
95	NEK2	0.32529005
96	EPHA4	0.31239026
97	PRKCQ	0.31176287
98	GSK3A	0.29693357
99	CSNK2A2	0.28506058
100	PRKG1	0.27191019

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.04028081
2	Proteasome_Homo sapiens_hsa03050	2.83137134
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.76695867
4	Butanoate metabolism_Homo sapiens_hsa00650	2.56704780
5	Selenocompound metabolism_Homo sapiens_hsa00450	2.52471125
6	RNA polymerase_Homo sapiens_hsa03020	2.49079414
7	Non-homologous end-joining_Homo sapiens_hsa03450	2.41719786
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.13804970
9	Parkinsons disease_Homo sapiens_hsa05012	1.99698130
10	Folate biosynthesis_Homo sapiens_hsa00790	1.99014150
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.91487145
12	Tryptophan metabolism_Homo sapiens_hsa00380	1.89879984
13	Caffeine metabolism_Homo sapiens_hsa00232	1.84143436
14	Sulfur metabolism_Homo sapiens_hsa00920	1.83415325
15	Propanoate metabolism_Homo sapiens_hsa00640	1.82548518
16	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.81532597
17	Ribosome_Homo sapiens_hsa03010	1.75334340
18	Protein export_Homo sapiens_hsa03060	1.72480997
19	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.70910110
20	Homologous recombination_Homo sapiens_hsa03440	1.67757139
21	Linoleic acid metabolism_Homo sapiens_hsa00591	1.66365242
22	One carbon pool by folate_Homo sapiens_hsa00670	1.65186080
23	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.61195306
24	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.56421267
25	Fatty acid elongation_Homo sapiens_hsa00062	1.53622138
26	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.53504041
27	Pyrimidine metabolism_Homo sapiens_hsa00240	1.50397117
28	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.47919962
29	Glutathione metabolism_Homo sapiens_hsa00480	1.45139915
30	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.42862656
31	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.38472894
32	ABC transporters_Homo sapiens_hsa02010	1.37612020
33	Huntingtons disease_Homo sapiens_hsa05016	1.37243736
34	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.36331508
35	Collecting duct acid secretion_Homo sapiens_hsa04966	1.35260265
36	Chemical carcinogenesis_Homo sapiens_hsa05204	1.30800099
37	beta-Alanine metabolism_Homo sapiens_hsa00410	1.24083952
38	Alzheimers disease_Homo sapiens_hsa05010	1.19123750
39	RNA degradation_Homo sapiens_hsa03018	1.17594319
40	Purine metabolism_Homo sapiens_hsa00230	1.11181285
41	Retinol metabolism_Homo sapiens_hsa00830	1.10694821
42	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.09802435
43	Insulin secretion_Homo sapiens_hsa04911	1.08872617
44	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.08619497
45	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.07138273
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07030653
47	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.06984989
48	Ether lipid metabolism_Homo sapiens_hsa00565	1.06757143
49	Lysine degradation_Homo sapiens_hsa00310	1.05263664
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.05043891
51	Circadian rhythm_Homo sapiens_hsa04710	1.04471131
52	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.04259919
53	Peroxisome_Homo sapiens_hsa04146	1.01930977
54	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.96368043
55	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.95473295
56	Mismatch repair_Homo sapiens_hsa03430	0.95259500
57	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.93534430
58	Metabolic pathways_Homo sapiens_hsa01100	0.91174936
59	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.90314552
60	Fatty acid degradation_Homo sapiens_hsa00071	0.89447814
61	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.88870803
62	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.87872905
63	Phototransduction_Homo sapiens_hsa04744	0.87492793
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.86379048
65	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.82645323
66	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.77649686
67	Regulation of autophagy_Homo sapiens_hsa04140	0.76250166
68	Sulfur relay system_Homo sapiens_hsa04122	0.75500644
69	Taste transduction_Homo sapiens_hsa04742	0.73780230
70	Nitrogen metabolism_Homo sapiens_hsa00910	0.72989326
71	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.71954675
72	Cardiac muscle contraction_Homo sapiens_hsa04260	0.71310012
73	RNA transport_Homo sapiens_hsa03013	0.70874947
74	Base excision repair_Homo sapiens_hsa03410	0.68653012
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.67674371
76	Glycerolipid metabolism_Homo sapiens_hsa00561	0.64928347
77	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.63899263
78	Fanconi anemia pathway_Homo sapiens_hsa03460	0.63122566
79	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.62750669
80	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.59664310
81	Histidine metabolism_Homo sapiens_hsa00340	0.58173570
82	Mineral absorption_Homo sapiens_hsa04978	0.55875519
83	Pyruvate metabolism_Homo sapiens_hsa00620	0.55819901
84	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.54718246
85	Sphingolipid metabolism_Homo sapiens_hsa00600	0.51066123
86	Galactose metabolism_Homo sapiens_hsa00052	0.50241841
87	Basal transcription factors_Homo sapiens_hsa03022	0.47641156
88	Bile secretion_Homo sapiens_hsa04976	0.47036728
89	Fat digestion and absorption_Homo sapiens_hsa04975	0.45794532
90	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.45721696
91	Lysosome_Homo sapiens_hsa04142	0.45591774
92	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.45436801
93	Fatty acid metabolism_Homo sapiens_hsa01212	0.44840675
94	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.44147567
95	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.44077692
96	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.42080994
97	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.41892081
98	Olfactory transduction_Homo sapiens_hsa04740	0.41253671
99	Nucleotide excision repair_Homo sapiens_hsa03420	0.40745493
100	Basal cell carcinoma_Homo sapiens_hsa05217	0.38418168

KRT18P15

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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