ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	bundle of His cell to Purkinje myocyte communication (GO:0086069)	6.34046432
2	desmosome organization (GO:0002934)	5.17609370
3	intestinal epithelial cell development (GO:0060576)	3.99836580
4	ventricular cardiac muscle cell action potential (GO:0086005)	3.91829194
5	cellular ketone body metabolic process (GO:0046950)	3.60970053
6	carnitine shuttle (GO:0006853)	3.43136371
7	regulation of relaxation of muscle (GO:1901077)	3.39425067
8	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.38293545
9	amino-acid betaine transport (GO:0015838)	3.34904793
10	carnitine transport (GO:0015879)	3.34904793
11	regulation of hippo signaling (GO:0035330)	3.24905735
12	fatty acid transmembrane transport (GO:1902001)	3.24751503
13	cardiac muscle cell action potential (GO:0086001)	3.18572793
14	ketone body metabolic process (GO:1902224)	3.16681223
15	carnitine transmembrane transport (GO:1902603)	3.15770530
16	cardiac muscle cell action potential involved in contraction (GO:0086002)	3.11322547
17	regulation of heart rate by cardiac conduction (GO:0086091)	3.08554687
18	skeletal muscle adaptation (GO:0043501)	3.06206289
19	striated muscle atrophy (GO:0014891)	3.01861184
20	cell communication involved in cardiac conduction (GO:0086065)	3.00902404
21	regulation of cell communication by electrical coupling (GO:0010649)	2.96270666
22	cardiac conduction (GO:0061337)	2.96046594
23	sarcomere organization (GO:0045214)	2.95046051
24	quaternary ammonium group transport (GO:0015697)	2.91719260
25	establishment of protein localization to Golgi (GO:0072600)	2.91366843
26	keratinocyte development (GO:0003334)	2.89037909
27	flavonoid metabolic process (GO:0009812)	2.86881486
28	negative regulation of keratinocyte proliferation (GO:0010839)	2.83144442
29	macroautophagy (GO:0016236)	2.79537285
30	biotin metabolic process (GO:0006768)	2.79400558
31	positive regulation of glycolytic process (GO:0045821)	2.78608764
32	regulation of glucokinase activity (GO:0033131)	2.76759294
33	regulation of hexokinase activity (GO:1903299)	2.76759294
34	negative regulation of hormone biosynthetic process (GO:0032353)	2.75239713
35	muscle atrophy (GO:0014889)	2.72006649
36	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	2.70998111
37	plasma membrane repair (GO:0001778)	2.69344895
38	regulation of keratinocyte proliferation (GO:0010837)	2.69133706
39	drug catabolic process (GO:0042737)	2.68514092
40	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.67293569
41	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.67293569
42	regulation of translation, ncRNA-mediated (GO:0045974)	2.67293569
43	myofibril assembly (GO:0030239)	2.65590148
44	establishment of skin barrier (GO:0061436)	2.65515875
45	prostate gland growth (GO:0060736)	2.65488638
46	dorsal/ventral axis specification (GO:0009950)	2.64686213
47	early endosome to late endosome transport (GO:0045022)	2.63412628
48	actomyosin structure organization (GO:0031032)	2.62969577
49	cellular glucuronidation (GO:0052695)	2.62744767
50	regulation of water loss via skin (GO:0033561)	2.61867447
51	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.61406646
52	otic vesicle formation (GO:0030916)	2.59571009
53	genitalia morphogenesis (GO:0035112)	2.58568733
54	regulation of acrosome reaction (GO:0060046)	2.58105246
55	protein targeting to Golgi (GO:0000042)	2.57405641
56	negative regulation of hormone metabolic process (GO:0032351)	2.56567663
57	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.55513364
58	muscle filament sliding (GO:0030049)	2.53891311
59	actin-myosin filament sliding (GO:0033275)	2.53891311
60	auditory receptor cell differentiation (GO:0042491)	2.53804118
61	regulation of energy homeostasis (GO:2000505)	2.52326892
62	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.50688025
63	glucuronate metabolic process (GO:0019585)	2.47531408
64	uronic acid metabolic process (GO:0006063)	2.47531408
65	inositol phosphate-mediated signaling (GO:0048016)	2.46155616
66	regulation of actin filament-based movement (GO:1903115)	2.43454757
67	exogenous drug catabolic process (GO:0042738)	2.42930049
68	relaxation of cardiac muscle (GO:0055119)	2.40584979
69	actin-mediated cell contraction (GO:0070252)	2.38372825
70	thyroid hormone metabolic process (GO:0042403)	2.38353463
71	lung lobe morphogenesis (GO:0060463)	2.37953735
72	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.36506381
73	hemidesmosome assembly (GO:0031581)	2.36194744
74	positive regulation of glycoprotein biosynthetic process (GO:0010560)	2.35521731
75	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	2.35509017
76	cardiac myofibril assembly (GO:0055003)	2.33670762
77	multicellular organismal water homeostasis (GO:0050891)	2.32127155
78	epoxygenase P450 pathway (GO:0019373)	2.31894286
79	regulation of protein glycosylation (GO:0060049)	2.31801540
80	kidney morphogenesis (GO:0060993)	2.30415335
81	glandular epithelial cell differentiation (GO:0002067)	2.30230022
82	tight junction assembly (GO:0070830)	2.30221127
83	positive regulation of sodium ion transport (GO:0010765)	2.30070576
84	nephron tubule morphogenesis (GO:0072078)	2.29840062
85	nephron epithelium morphogenesis (GO:0072088)	2.29840062
86	toxin transport (GO:1901998)	2.29356300
87	negative regulation of protein activation cascade (GO:2000258)	2.29091957
88	positive regulation of fatty acid oxidation (GO:0046321)	2.27282620
89	regulation of Wnt signaling pathway involved in heart development (GO:0003307)	2.26833864
90	Golgi to endosome transport (GO:0006895)	2.26721098
91	reflex (GO:0060004)	2.25748385
92	negative regulation of complement activation (GO:0045916)	2.25701021
93	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.25490747
94	cardiac right ventricle morphogenesis (GO:0003215)	2.23945659
95	water homeostasis (GO:0030104)	2.23567711
96	regulation of sodium ion transmembrane transporter activity (GO:2000649)	2.22658937
97	embryonic retina morphogenesis in camera-type eye (GO:0060059)	2.21879768
98	regulation of fatty acid oxidation (GO:0046320)	2.21779749
99	fibroblast migration (GO:0010761)	2.21661955
100	protein localization to Golgi apparatus (GO:0034067)	2.18952991

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.67774171
2	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.81380144
3	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.76199883
4	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.34413202
5	AHR_22903824_ChIP-Seq_MCF-7_Human	2.27716295
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.23870156
7	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	2.20916345
8	PIAS1_25552417_ChIP-Seq_VCAP_Human	2.19822887
9	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.13100757
10	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.12613181
11	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.10525607
12	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.07324907
13	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.01541074
14	VDR_22108803_ChIP-Seq_LS180_Human	1.99373016
15	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.95673398
16	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.95274401
17	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.94799337
18	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.94622561
19	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.94013083
20	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.93417202
21	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.88040141
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.80841083
23	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.77751172
24	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.74752770
25	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.73913462
26	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73246521
27	FUS_26573619_Chip-Seq_HEK293_Human	1.71312300
28	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.70778852
29	TAF15_26573619_Chip-Seq_HEK293_Human	1.65638457
30	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.62604903
31	ER_23166858_ChIP-Seq_MCF-7_Human	1.62048830
32	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.61564869
33	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.60169835
34	STAT3_23295773_ChIP-Seq_U87_Human	1.58412737
35	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.55793393
36	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.54715276
37	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.53593009
38	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.52502677
39	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.50627830
40	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.49703895
41	TCF4_23295773_ChIP-Seq_U87_Human	1.48317793
42	P300_19829295_ChIP-Seq_ESCs_Human	1.47729443
43	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.47456553
44	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.47224231
45	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.46054075
46	GATA4_25053715_ChIP-Seq_YYC3_Human	1.43897200
47	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.43724310
48	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.43678277
49	CDX2_22108803_ChIP-Seq_LS180_Human	1.42672119
50	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.40655985
51	ZNF274_21170338_ChIP-Seq_K562_Hela	1.39901336
52	BCAT_22108803_ChIP-Seq_LS180_Human	1.39663757
53	IGF1R_20145208_ChIP-Seq_DFB_Human	1.37322973
54	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.36053261
55	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.35691941
56	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.35332720
57	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.35046009
58	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.34675945
59	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.34653859
60	AR_25329375_ChIP-Seq_VCAP_Human	1.32863167
61	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31230993
62	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27238806
63	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.27174158
64	TCF4_22108803_ChIP-Seq_LS180_Human	1.27013135
65	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.25547456
66	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.25245858
67	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.22617553
68	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.20064026
69	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.19634585
70	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.17729739
71	TP53_16413492_ChIP-PET_HCT116_Human	1.17473558
72	CBP_20019798_ChIP-Seq_JUKART_Human	1.15803919
73	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.15803919
74	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.15653468
75	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	1.14956023
76	TP63_23658742_ChIP-Seq_EP156T_Human	1.14811131
77	EWS_26573619_Chip-Seq_HEK293_Human	1.14769882
78	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.14301731
79	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12658507
80	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.12573387
81	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.12493390
82	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.12165119
83	GATA6_25053715_ChIP-Seq_YYC3_Human	1.11740650
84	CJUN_26792858_Chip-Seq_BT549_Human	1.11715906
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.11219899
86	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.08115567
87	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.08115567
88	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.07483015
89	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.06378990
90	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.06210070
91	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06141168
92	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06033772
93	RXR_22108803_ChIP-Seq_LS180_Human	1.05777424
94	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05704424
95	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.04646985
96	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.04632212
97	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.04360844
98	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.04027017
99	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.04012870
100	RUNX2_22187159_ChIP-Seq_PCA_Human	1.03982989

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010234_abnormal_vibrissa_follicle	4.01863062
2	MP0009780_abnormal_chondrocyte_physiolo	3.74508037
3	MP0010678_abnormal_skin_adnexa	3.15582498
4	MP0000383_abnormal_hair_follicle	3.07858338
5	MP0002837_dystrophic_cardiac_calcinosis	3.00583175
6	MP0003195_calcinosis	2.81070093
7	MP0004264_abnormal_extraembryonic_tissu	2.78500980
8	MP0003941_abnormal_skin_development	2.73726587
9	MP0003646_muscle_fatigue	2.72733511
10	MP0004084_abnormal_cardiac_muscle	2.37514964
11	MP0004215_abnormal_myocardial_fiber	2.23949284
12	MP0000579_abnormal_nail_morphology	2.18480196
13	MP0002876_abnormal_thyroid_physiology	2.00592780
14	MP0002009_preneoplasia	1.99303652
15	MP0004145_abnormal_muscle_electrophysio	1.96571304
16	MP0000427_abnormal_hair_cycle	1.94096172
17	MP0004036_abnormal_muscle_relaxation	1.91062505
18	MP0004043_abnormal_pH_regulation	1.87864261
19	MP0002254_reproductive_system_inflammat	1.77257224
20	MP0000566_synostosis	1.69959776
21	MP0010352_gastrointestinal_tract_polyps	1.59909751
22	MP0001666_abnormal_nutrient_absorption	1.58236860
23	MP0005085_abnormal_gallbladder_physiolo	1.57363256
24	MP0004484_altered_response_of	1.52542145
25	MP0003890_abnormal_embryonic-extraembry	1.50186377
26	MP0005670_abnormal_white_adipose	1.43809059
27	MP0002796_impaired_skin_barrier	1.43051993
28	MP0008057_abnormal_DNA_replication	1.37110124
29	MP0002098_abnormal_vibrissa_morphology	1.32839831
30	MP0005646_abnormal_pituitary_gland	1.31826020
31	MP0008775_abnormal_heart_ventricle	1.28783381
32	MP0001765_abnormal_ion_homeostasis	1.26458064
33	MP0005365_abnormal_bile_salt	1.26071957
34	MP0001661_extended_life_span	1.25340425
35	MP0005332_abnormal_amino_acid	1.24572259
36	MP0000751_myopathy	1.24563423
37	MP0004130_abnormal_muscle_cell	1.24214950
38	MP0005360_urolithiasis	1.21701416
39	MP0002909_abnormal_adrenal_gland	1.21571979
40	MP0000013_abnormal_adipose_tissue	1.19328096
41	MP0003252_abnormal_bile_duct	1.18080792
42	MP0003787_abnormal_imprinting	1.18053746
43	MP0008961_abnormal_basal_metabolism	1.14787992
44	MP0001485_abnormal_pinna_reflex	1.12129781
45	MP0005551_abnormal_eye_electrophysiolog	1.11337632
46	MP0005620_abnormal_muscle_contractility	1.10464638
47	MP0000377_abnormal_hair_follicle	1.10303480
48	MP0005083_abnormal_biliary_tract	1.10281709
49	MP0001984_abnormal_olfaction	1.09929048
50	MP0002234_abnormal_pharynx_morphology	1.09211663
51	MP0000003_abnormal_adipose_tissue	1.07393244
52	MP0004085_abnormal_heartbeat	1.06788098
53	MP0005330_cardiomyopathy	1.06545445
54	MP0010329_abnormal_lipoprotein_level	1.05258657
55	MP0003045_fibrosis	1.04785446
56	MP0002108_abnormal_muscle_morphology	1.04514499
57	MP0004087_abnormal_muscle_fiber	0.99420345
58	MP0004019_abnormal_vitamin_homeostasis	0.98175268
59	MP0006138_congestive_heart_failure	0.95932930
60	MP0008875_abnormal_xenobiotic_pharmacok	0.95282524
61	MP0002972_abnormal_cardiac_muscle	0.94852952
62	MP0001756_abnormal_urination	0.94496544
63	MP0003137_abnormal_impulse_conducting	0.93423461
64	MP0003183_abnormal_peptide_metabolism	0.92494588
65	MP0008877_abnormal_DNA_methylation	0.90518793
66	MP0003937_abnormal_limbs/digits/tail_de	0.90483424
67	MP0002168_other_aberrant_phenotype	0.90442325
68	MP0003950_abnormal_plasma_membrane	0.88461037
69	MP0004782_abnormal_surfactant_physiolog	0.86860255
70	MP0001501_abnormal_sleep_pattern	0.86798778
71	MP0000749_muscle_degeneration	0.86589970
72	MP0000538_abnormal_urinary_bladder	0.86278536
73	MP0005636_abnormal_mineral_homeostasis	0.86269326
74	MP0000762_abnormal_tongue_morphology	0.86125372
75	MP0000467_abnormal_esophagus_morphology	0.85552085
76	MP0002269_muscular_atrophy	0.85506475
77	MP0003283_abnormal_digestive_organ	0.84669449
78	MP0005220_abnormal_exocrine_pancreas	0.84615511
79	MP0008872_abnormal_physiological_respon	0.83988127
80	MP0000462_abnormal_digestive_system	0.83283199
81	MP0003868_abnormal_feces_composition	0.82648089
82	MP0005369_muscle_phenotype	0.81472034
83	MP0004381_abnormal_hair_follicle	0.80937563
84	MP0006072_abnormal_retinal_apoptosis	0.80165019
85	MP0009643_abnormal_urine_homeostasis	0.79676543
86	MP0000631_abnormal_neuroendocrine_gland	0.78622042
87	MP0001944_abnormal_pancreas_morphology	0.77723800
88	MP0000470_abnormal_stomach_morphology	0.77076348
89	MP0002106_abnormal_muscle_physiology	0.76871463
90	MP0002078_abnormal_glucose_homeostasis	0.76327904
91	MP0002127_abnormal_cardiovascular_syste	0.72630539
92	MP0010630_abnormal_cardiac_muscle	0.72519119
93	MP0002160_abnormal_reproductive_system	0.71742805
94	MP0005395_other_phenotype	0.71622259
95	MP0002166_altered_tumor_susceptibility	0.71443976
96	MP0000537_abnormal_urethra_morphology	0.70898981
97	MP0000647_abnormal_sebaceous_gland	0.69882437
98	MP0003936_abnormal_reproductive_system	0.68598923
99	MP0000627_abnormal_mammary_gland	0.68407578
100	MP0003879_abnormal_hair_cell	0.66897140

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Right ventricular cardiomyopathy (HP:0011663)	5.96818868
2	Lip pit (HP:0100267)	3.57640441
3	Calf muscle hypertrophy (HP:0008981)	3.45530000
4	Hyperkalemia (HP:0002153)	3.40245184
5	Muscle hypertrophy of the lower extremities (HP:0008968)	3.37191293
6	Hyperactive renin-angiotensin system (HP:0000841)	3.26936970
7	Bundle branch block (HP:0011710)	3.23595288
8	Syncope (HP:0001279)	3.22985827
9	Abnormality of the renal cortex (HP:0011035)	3.15250534
10	Decreased circulating renin level (HP:0003351)	2.94070144
11	Ventricular tachycardia (HP:0004756)	2.88658699
12	Abnormality of the nasal septum (HP:0000419)	2.86851467
13	Sudden death (HP:0001699)	2.86534007
14	Hyporeflexia of lower limbs (HP:0002600)	2.86090037
15	Abnormality of renin-angiotensin system (HP:0000847)	2.69206280
16	Hyperglycemia (HP:0003074)	2.66472113
17	Renal cortical cysts (HP:0000803)	2.66384253
18	Ketoacidosis (HP:0001993)	2.62353958
19	Gaze-evoked nystagmus (HP:0000640)	2.54519551
20	Hypoglycemic coma (HP:0001325)	2.53290686
21	Hypoplastic labia majora (HP:0000059)	2.50836482
22	Abnormality of chloride homeostasis (HP:0011422)	2.47558908
23	Abnormality of potassium homeostasis (HP:0011042)	2.47330616
24	Abnormality of the calf musculature (HP:0001430)	2.46831753
25	Increased circulating renin level (HP:0000848)	2.39878395
26	Exercise-induced myalgia (HP:0003738)	2.38591562
27	Abnormality of the labia majora (HP:0012881)	2.38041751
28	Proximal tubulopathy (HP:0000114)	2.34462093
29	Tubular atrophy (HP:0000092)	2.33533868
30	Fair hair (HP:0002286)	2.29780337
31	Abnormal biliary tract morphology (HP:0012440)	2.26127151
32	Abnormal pancreas size (HP:0012094)	2.25728237
33	Genetic anticipation (HP:0003743)	2.21000674
34	Hyperaldosteronism (HP:0000859)	2.20916618
35	Hyperinsulinemic hypoglycemia (HP:0000825)	2.20669139
36	Ventricular fibrillation (HP:0001663)	2.19574499
37	Ventricular arrhythmia (HP:0004308)	2.13365883
38	Depressed nasal tip (HP:0000437)	2.12264490
39	Hyperventilation (HP:0002883)	2.09918612
40	Pancreatic cysts (HP:0001737)	2.09765286
41	Pili torti (HP:0003777)	2.09225274
42	Ketosis (HP:0001946)	2.09091392
43	Palpitations (HP:0001962)	2.08527554
44	Hyperglycinuria (HP:0003108)	2.07630967
45	Dysmetric saccades (HP:0000641)	2.06015533
46	Amelogenesis imperfecta (HP:0000705)	2.05258273
47	Popliteal pterygium (HP:0009756)	2.02782076
48	Exercise-induced muscle cramps (HP:0003710)	1.99863187
49	Abnormality of the renal medulla (HP:0100957)	1.98528620
50	Hypothermia (HP:0002045)	1.97127667
51	Hypokalemia (HP:0002900)	1.97126535
52	Muscle fiber inclusion bodies (HP:0100299)	1.96262717
53	Biliary tract neoplasm (HP:0100574)	1.96167453
54	Insulin-resistant diabetes mellitus (HP:0000831)	1.95102433
55	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.94510892
56	Hypoglycemic seizures (HP:0002173)	1.94167690
57	Chronic hepatic failure (HP:0100626)	1.92789786
58	Large for gestational age (HP:0001520)	1.90929208
59	Late onset (HP:0003584)	1.89288153
60	Neonatal hypoglycemia (HP:0001998)	1.89138342
61	Curly hair (HP:0002212)	1.89074079
62	Atrial fibrillation (HP:0005110)	1.88904137
63	Hamartoma of the eye (HP:0010568)	1.88197202
64	Plantar hyperkeratosis (HP:0007556)	1.87621576
65	Abnormal hair laboratory examination (HP:0003328)	1.85802943
66	Hypomagnesemia (HP:0002917)	1.83565757
67	Abnormality of vitamin metabolism (HP:0100508)	1.81953208
68	Metabolic alkalosis (HP:0200114)	1.81743775
69	Abnormality of vitamin B metabolism (HP:0004340)	1.81716412
70	Woolly hair (HP:0002224)	1.80595667
71	Abnormality of the axillary hair (HP:0100134)	1.80412923
72	Abnormality of secondary sexual hair (HP:0009888)	1.80412923
73	Palmoplantar hyperkeratosis (HP:0000972)	1.79408973
74	Furrowed tongue (HP:0000221)	1.78894804
75	Nemaline bodies (HP:0003798)	1.78735416
76	Intrahepatic cholestasis (HP:0001406)	1.78319399
77	Palmar hyperkeratosis (HP:0010765)	1.77890681
78	Abnormality of the ischium (HP:0003174)	1.77582252
79	Labial hypoplasia (HP:0000066)	1.77511839
80	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	1.76241530
81	Goiter (HP:0000853)	1.75452630
82	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.73626015
83	Heart block (HP:0012722)	1.72083577
84	Pancreatic fibrosis (HP:0100732)	1.68492245
85	Vascular calcification (HP:0004934)	1.67679998
86	Dilated cardiomyopathy (HP:0001644)	1.66760898
87	Generalized hypopigmentation of hair (HP:0011358)	1.66197001
88	Broad-based gait (HP:0002136)	1.65512991
89	Tubulointerstitial nephritis (HP:0001970)	1.64624300
90	Nephronophthisis (HP:0000090)	1.64461776
91	Cystic liver disease (HP:0006706)	1.62723325
92	Fat malabsorption (HP:0002630)	1.61479958
93	Thyroid-stimulating hormone excess (HP:0002925)	1.61182826
94	Progressive cerebellar ataxia (HP:0002073)	1.60539044
95	Malnutrition (HP:0004395)	1.60148784
96	True hermaphroditism (HP:0010459)	1.57258749
97	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.56853652
98	Enlarged kidneys (HP:0000105)	1.56529968
99	Abnormality of serine family amino acid metabolism (HP:0010894)	1.56278057
100	Abnormality of glycine metabolism (HP:0010895)	1.56278057

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.62394247
2	OBSCN	3.07598739
3	MST1R	2.96658103
4	STK39	2.62510291
5	ACVR1B	2.61091394
6	MST4	2.51888374
7	OXSR1	2.34096080
8	PIK3CA	2.26797208
9	EPHA2	2.25851761
10	FGFR2	2.19941352
11	PHKG2	2.15720707
12	PHKG1	2.15720707
13	AKT3	2.05903355
14	STK38L	2.04244738
15	FER	1.95174286
16	BMPR1B	1.89619723
17	LATS1	1.88019282
18	MET	1.83860130
19	NLK	1.77201372
20	GRK1	1.62751307
21	TRPM7	1.56712984
22	WNK3	1.55512879
23	MAPKAPK3	1.51020676
24	PDK2	1.37763849
25	STK24	1.33375124
26	PAK3	1.33318087
27	WNK4	1.29820120
28	LMTK2	1.29809306
29	TNIK	1.26008793
30	STK3	1.23232714
31	TAOK3	1.20907621
32	PRKAA2	1.20879491
33	SGK2	1.16543900
34	CAMK1G	1.16412067
35	CASK	1.12914483
36	MAP3K7	1.10051974
37	CAMK1D	1.08372021
38	TTN	1.08061880
39	MAP3K2	1.06807434
40	ERBB3	1.05615490
41	FGFR3	1.05201203
42	BRSK2	1.05186792
43	PINK1	1.04449542
44	INSRR	0.99802287
45	EPHA3	0.99682587
46	NEK6	0.99109926
47	MYLK	0.98070429
48	MUSK	0.96565438
49	PRKAA1	0.96437956
50	PRKCE	0.88709405
51	STK38	0.86186845
52	RPS6KB2	0.85427263
53	MAP4K2	0.84520371
54	SGK223	0.83621220
55	SGK494	0.83621220
56	SGK3	0.83046612
57	PKN2	0.81867571
58	DMPK	0.80385838
59	EEF2K	0.79980090
60	MAP2K6	0.76460168
61	DAPK2	0.73053033
62	ZAK	0.72670971
63	NUAK1	0.71496061
64	ADRBK2	0.71019603
65	MKNK2	0.65167154
66	MAP3K12	0.62411455
67	ERBB2	0.61311816
68	MAP2K2	0.60402629
69	CAMK2D	0.59062402
70	TGFBR1	0.58389675
71	MELK	0.57797925
72	MAP2K1	0.57716163
73	PIK3CG	0.55970867
74	WNK1	0.55037181
75	FGFR1	0.54574970
76	MAP3K9	0.50869282
77	PRKCI	0.49337803
78	NME1	0.47001347
79	TRIM28	0.46187727
80	MAP3K4	0.45251460
81	CHUK	0.45249494
82	SGK1	0.45231848
83	RIPK1	0.41561007
84	RPS6KB1	0.41556953
85	TLK1	0.40894562
86	PBK	0.38772887
87	STK11	0.38252546
88	PNCK	0.35661905
89	ROCK1	0.35523406
90	BRD4	0.35405013
91	ADRBK1	0.33716049
92	CDK12	0.33194707
93	MTOR	0.32975446
94	CSNK1G1	0.32677341
95	BCR	0.32083614
96	CAMK2A	0.29447138
97	TNK2	0.29123761
98	MAPK15	0.27513700
99	PTK2	0.27495545
100	PRKACA	0.26064018

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.57352200
2	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.38904605
3	Circadian rhythm_Homo sapiens_hsa04710	2.18100390
4	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.12217592
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.08709912
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.07792235
7	Butanoate metabolism_Homo sapiens_hsa00650	2.03433371
8	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.95232785
9	Tryptophan metabolism_Homo sapiens_hsa00380	1.90682042
10	Propanoate metabolism_Homo sapiens_hsa00640	1.84914719
11	Nitrogen metabolism_Homo sapiens_hsa00910	1.84780459
12	Histidine metabolism_Homo sapiens_hsa00340	1.83665473
13	Arginine biosynthesis_Homo sapiens_hsa00220	1.81383467
14	Caffeine metabolism_Homo sapiens_hsa00232	1.80901509
15	ABC transporters_Homo sapiens_hsa02010	1.74335892
16	Retinol metabolism_Homo sapiens_hsa00830	1.73569205
17	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.72424334
18	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.71392984
19	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.70082262
20	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.60744117
21	Fatty acid degradation_Homo sapiens_hsa00071	1.60741777
22	Chemical carcinogenesis_Homo sapiens_hsa05204	1.55256922
23	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.48279576
24	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.47392358
25	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.38064189
26	Pancreatic secretion_Homo sapiens_hsa04972	1.36409186
27	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.36045388
28	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.35999672
29	Fat digestion and absorption_Homo sapiens_hsa04975	1.32454758
30	Selenocompound metabolism_Homo sapiens_hsa00450	1.29535403
31	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.28410437
32	Tight junction_Homo sapiens_hsa04530	1.26214272
33	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.25664288
34	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.24879897
35	Insulin secretion_Homo sapiens_hsa04911	1.23339680
36	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.20637302
37	Glucagon signaling pathway_Homo sapiens_hsa04922	1.20588222
38	Lysine degradation_Homo sapiens_hsa00310	1.19584212
39	Bile secretion_Homo sapiens_hsa04976	1.18864714
40	beta-Alanine metabolism_Homo sapiens_hsa00410	1.18404109
41	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.16256713
42	Ether lipid metabolism_Homo sapiens_hsa00565	1.15593225
43	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.12725260
44	Phenylalanine metabolism_Homo sapiens_hsa00360	1.10804595
45	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.05531782
46	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.04764826
47	Arginine and proline metabolism_Homo sapiens_hsa00330	1.04212830
48	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.03094503
49	Mineral absorption_Homo sapiens_hsa04978	1.03059002
50	Insulin resistance_Homo sapiens_hsa04931	1.02774792
51	Fatty acid metabolism_Homo sapiens_hsa01212	1.01464882
52	Peroxisome_Homo sapiens_hsa04146	0.99668499
53	Sulfur metabolism_Homo sapiens_hsa00920	0.99128582
54	Renin secretion_Homo sapiens_hsa04924	0.97445324
55	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.92554971
56	Phototransduction_Homo sapiens_hsa04744	0.91020957
57	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.86225783
58	Adherens junction_Homo sapiens_hsa04520	0.86062496
59	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.85951491
60	PPAR signaling pathway_Homo sapiens_hsa03320	0.83477810
61	Protein digestion and absorption_Homo sapiens_hsa04974	0.83334806
62	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.80953497
63	Glycerolipid metabolism_Homo sapiens_hsa00561	0.77917369
64	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.77810175
65	Taste transduction_Homo sapiens_hsa04742	0.77089916
66	Sphingolipid metabolism_Homo sapiens_hsa00600	0.70582006
67	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.69820388
68	Cardiac muscle contraction_Homo sapiens_hsa04260	0.68803388
69	Tyrosine metabolism_Homo sapiens_hsa00350	0.67415892
70	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.65708283
71	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.64008230
72	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.62839612
73	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.62148282
74	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.60884984
75	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.60669200
76	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.60618032
77	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.60213971
78	Renin-angiotensin system_Homo sapiens_hsa04614	0.59431541
79	AMPK signaling pathway_Homo sapiens_hsa04152	0.58956174
80	Serotonergic synapse_Homo sapiens_hsa04726	0.58554361
81	Pyruvate metabolism_Homo sapiens_hsa00620	0.58430433
82	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.57779510
83	Salivary secretion_Homo sapiens_hsa04970	0.57633925
84	Hippo signaling pathway_Homo sapiens_hsa04390	0.55752785
85	Calcium signaling pathway_Homo sapiens_hsa04020	0.55468358
86	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.52944900
87	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.52885992
88	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.52671795
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.52427358
90	Regulation of autophagy_Homo sapiens_hsa04140	0.52067140
91	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50663307
92	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.49600622
93	Gastric acid secretion_Homo sapiens_hsa04971	0.48340331
94	Non-homologous end-joining_Homo sapiens_hsa03450	0.45814368
95	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.45074303
96	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.44098171
97	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.43953387
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.43221801
99	Insulin signaling pathway_Homo sapiens_hsa04910	0.41780640
100	Circadian entrainment_Homo sapiens_hsa04713	0.41564297

PATJ

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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