ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	8.96758462
2	protein-chromophore linkage (GO:0018298)	8.04602951
3	lipopolysaccharide biosynthetic process (GO:0009103)	8.03491564
4	regulation of pigment cell differentiation (GO:0050932)	7.99716706
5	DNA methylation involved in gamete generation (GO:0043046)	7.99379659
6	positive regulation of developmental pigmentation (GO:0048087)	7.95425351
7	negative regulation of glycoprotein biosynthetic process (GO:0010561)	7.45535819
8	lipopolysaccharide metabolic process (GO:0008653)	7.23113834
9	regulation of protein glycosylation (GO:0060049)	7.19948787
10	negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)	7.16591932
11	regulation of meiosis I (GO:0060631)	7.15221991
12	sulfate transmembrane transport (GO:1902358)	6.76020449
13	paraxial mesoderm development (GO:0048339)	6.67855407
14	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	6.58043213
15	negative regulation of cell cycle G2/M phase transition (GO:1902750)	6.53467730
16	SMAD protein complex assembly (GO:0007183)	5.87313248
17	sulfate transport (GO:0008272)	5.67005672
18	negative regulation of glycoprotein metabolic process (GO:1903019)	5.45560952
19	piRNA metabolic process (GO:0034587)	5.34271865
20	tyrosine metabolic process (GO:0006570)	5.12736452
21	L-phenylalanine catabolic process (GO:0006559)	4.93183633
22	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	4.93183633
23	germinal center formation (GO:0002467)	4.85437160
24	notochord development (GO:0030903)	4.72708941
25	nodal signaling pathway (GO:0038092)	4.72543589
26	embryonic process involved in female pregnancy (GO:0060136)	4.60221657
27	regulation of transforming growth factor beta2 production (GO:0032909)	4.54839544
28	heme transport (GO:0015886)	4.49317740
29	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.36524735
30	positive regulation of meiotic cell cycle (GO:0051446)	4.34361691
31	negative regulation of stem cell proliferation (GO:2000647)	4.26528481
32	response to epinephrine (GO:0071871)	4.24275521
33	ribonucleoprotein complex disassembly (GO:0032988)	4.20267281
34	L-phenylalanine metabolic process (GO:0006558)	4.10847943
35	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	4.10847943
36	positive regulation of meiosis (GO:0045836)	4.04290243
37	cellular response to gamma radiation (GO:0071480)	4.01612607
38	regulation of interleukin-5 production (GO:0032674)	3.99024984
39	centriole replication (GO:0007099)	3.95821169
40	regulation of developmental pigmentation (GO:0048070)	3.92014988
41	regulation of odontogenesis (GO:0042481)	3.91631152
42	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	3.80903232
43	positive regulation of SMAD protein import into nucleus (GO:0060391)	3.78987821
44	serotonin receptor signaling pathway (GO:0007210)	3.77364670
45	meiotic chromosome segregation (GO:0045132)	3.74210199
46	DNA damage induced protein phosphorylation (GO:0006975)	3.70113190
47	vitamin transmembrane transport (GO:0035461)	3.66627044
48	flavonoid metabolic process (GO:0009812)	3.65891881
49	response to mercury ion (GO:0046689)	3.64263906
50	tachykinin receptor signaling pathway (GO:0007217)	3.62370437
51	negative regulation of cell-matrix adhesion (GO:0001953)	3.58667351
52	organelle disassembly (GO:1903008)	3.50191423
53	heart valve formation (GO:0003188)	3.47359347
54	glycerol metabolic process (GO:0006071)	3.44442796
55	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.35261883
56	negative regulation of neural precursor cell proliferation (GO:2000178)	3.34304309
57	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	3.32660447
58	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.28858129
59	pantothenate metabolic process (GO:0015939)	3.24741302
60	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.21266520
61	sulfur compound transport (GO:0072348)	3.18359385
62	cellular response to ethanol (GO:0071361)	3.07622155
63	inflammatory response to antigenic stimulus (GO:0002437)	3.06523448
64	rhodopsin mediated signaling pathway (GO:0016056)	3.06466124
65	toxin metabolic process (GO:0009404)	3.06061634
66	aromatic amino acid family catabolic process (GO:0009074)	3.04841853
67	iron coordination entity transport (GO:1901678)	3.04193909
68	positive regulation of fatty acid oxidation (GO:0046321)	3.01099673
69	protein retention in ER lumen (GO:0006621)	3.00446808
70	regulation of keratinocyte proliferation (GO:0010837)	2.98537823
71	alditol metabolic process (GO:0019400)	2.98346658
72	uterus development (GO:0060065)	2.98138531
73	sympathetic nervous system development (GO:0048485)	2.97755237
74	lipid phosphorylation (GO:0046834)	2.97417049
75	polyol biosynthetic process (GO:0046173)	2.91341876
76	regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	2.88562235
77	protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	2.87882809
78	sphingolipid biosynthetic process (GO:0030148)	2.86001848
79	organ induction (GO:0001759)	2.82287544
80	regulation of hair cycle (GO:0042634)	2.80755119
81	DNA alkylation (GO:0006305)	2.79965263
82	DNA methylation (GO:0006306)	2.79965263
83	regulation of SMAD protein import into nucleus (GO:0060390)	2.78372223
84	negative regulation of BMP signaling pathway (GO:0030514)	2.77102755
85	membrane lipid biosynthetic process (GO:0046467)	2.76936569
86	aromatic amino acid family metabolic process (GO:0009072)	2.71414647
87	somite rostral/caudal axis specification (GO:0032525)	2.70757729
88	interkinetic nuclear migration (GO:0022027)	2.69694490
89	regulation of hair follicle development (GO:0051797)	2.68298547
90	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.63397928
91	regulation of gonadotropin secretion (GO:0032276)	2.62819452
92	negative regulation of carbohydrate metabolic process (GO:0045912)	2.60604891
93	adaptation of signaling pathway (GO:0023058)	2.60545784
94	regulation of glycoprotein biosynthetic process (GO:0010559)	2.57585210
95	urate metabolic process (GO:0046415)	2.56253867
96	regulation of translational termination (GO:0006449)	2.55764697
97	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.54584304
98	sphingosine metabolic process (GO:0006670)	16.3744302
99	diol metabolic process (GO:0034311)	14.7556248
100	sphingoid metabolic process (GO:0046519)	13.2925064

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	AR_21572438_ChIP-Seq_LNCaP_Human	4.79253755
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.27862637
3	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	3.65736173
4	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.20652356
5	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.94151736
6	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.66115161
7	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.26028971
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.12859597
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.07697941
10	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	2.02599176
11	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.92546172
12	ER_23166858_ChIP-Seq_MCF-7_Human	1.91755299
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.91531243
14	P300_19829295_ChIP-Seq_ESCs_Human	1.90590687
15	EGR1_19032775_ChIP-ChIP_M12_Human	1.89863374
16	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.89791003
17	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.89791003
18	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.83790801
19	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.81257661
20	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.79063202
21	TP53_16413492_ChIP-PET_HCT116_Human	1.76384632
22	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.75525587
23	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.72111130
24	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.68045749
25	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.67481298
26	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.64417670
27	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.64099707
28	STAT3_23295773_ChIP-Seq_U87_Human	1.60388394
29	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.59351704
30	TCF4_23295773_ChIP-Seq_U87_Human	1.54388013
31	ZNF274_21170338_ChIP-Seq_K562_Hela	1.51649018
32	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.51564359
33	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.47227604
34	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.46274794
35	NANOG_19829295_ChIP-Seq_ESCs_Human	1.45368107
36	SOX2_19829295_ChIP-Seq_ESCs_Human	1.45368107
37	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.43768465
38	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.42633573
39	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.42225414
40	STAT3_18555785_ChIP-Seq_MESCs_Mouse	1.41995782
41	HOXB7_26014856_ChIP-Seq_BT474_Human	1.40680184
42	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.38278541
43	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.37019024
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.36608424
45	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.34011560
46	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.33657553
47	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.33256531
48	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.32209013
49	TP63_23658742_ChIP-Seq_EP156T_Human	1.32092178
50	AR_25329375_ChIP-Seq_VCAP_Human	1.31047427
51	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.30601551
52	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.28678963
53	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.27588093
54	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.27449399
55	STAT1_20625510_ChIP-Seq_HELA_Human	1.27177128
56	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.26225857
57	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.23981204
58	CJUN_26792858_Chip-Seq_BT549_Human	1.23659731
59	SMAD4_21799915_ChIP-Seq_A2780_Human	1.21209531
60	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.20447032
61	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.18896871
62	TP53_18474530_ChIP-ChIP_U2OS_Human	1.18789525
63	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	1.17845202
64	AR_19668381_ChIP-Seq_PC3_Human	1.17342695
65	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.16693809
66	RXR_22108803_ChIP-Seq_LS180_Human	1.15763547
67	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.15123887
68	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.14438354
69	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.14199214
70	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.13837057
71	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.13092879
72	SCL_19346495_ChIP-Seq_HPC-7_Human	1.12931918
73	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.12117531
74	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.10154936
75	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.07653504
76	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.07247938
77	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.06111378
78	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.05892280
79	OCT4_20526341_ChIP-Seq_ESCs_Human	1.05278592
80	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.05267673
81	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.04521192
82	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.02741179
83	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.02697558
84	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.02574155
85	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.01777440
86	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01414040
87	CBP_20019798_ChIP-Seq_JUKART_Human	1.01414040
88	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.01276184
89	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.00748156
90	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.00059213
91	CDX2_22108803_ChIP-Seq_LS180_Human	0.99991079
92	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.99336851
93	STAT1_17558387_ChIP-Seq_HELA_Human	0.98081872
94	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.97646094
95	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.96500592
96	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.95751228
97	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.94777329
98	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.94588910
99	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.94556464
100	VDR_24787735_ChIP-Seq_THP-1_Human	0.94333472

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	8.74479202
2	MP0003136_yellow_coat_color	7.66097341
3	MP0005171_absent_coat_pigmentation	7.48835268
4	MP0002653_abnormal_ependyma_morphology	5.51406927
5	MP0003045_fibrosis	4.90834097
6	MP0003890_abnormal_embryonic-extraembry	4.43345432
7	MP0003646_muscle_fatigue	4.20761880
8	MP0000569_abnormal_digit_pigmentation	4.08444447
9	MP0004381_abnormal_hair_follicle	3.66936052
10	MP0003879_abnormal_hair_cell	2.96636541
11	MP0002138_abnormal_hepatobiliary_system	2.32394947
12	MP0003705_abnormal_hypodermis_morpholog	2.21770238
13	MP0010352_gastrointestinal_tract_polyps	2.17061956
14	MP0000749_muscle_degeneration	2.14367473
15	MP0005075_abnormal_melanosome_morpholog	2.10196390
16	MP0005670_abnormal_white_adipose	2.09711264
17	MP0002168_other_aberrant_phenotype	2.08706067
18	MP0005085_abnormal_gallbladder_physiolo	1.93027560
19	MP0004233_abnormal_muscle_weight	1.52747897
20	MP0002938_white_spotting	1.47010116
21	MP0002095_abnormal_skin_pigmentation	1.44168521
22	MP0002075_abnormal_coat/hair_pigmentati	1.40225557
23	MP0004147_increased_porphyrin_level	1.40131231
24	MP0006054_spinal_hemorrhage	1.26511023
25	MP0003195_calcinosis	1.26005428
26	MP0003950_abnormal_plasma_membrane	1.25981821
27	MP0005174_abnormal_tail_pigmentation	1.21429936
28	MP0005395_other_phenotype	1.10536722
29	MP0000015_abnormal_ear_pigmentation	1.09381634
30	MP0005076_abnormal_cell_differentiation	1.03946085
31	MP0000427_abnormal_hair_cycle	1.02003590
32	MP0003300_gastrointestinal_ulcer	1.01044349
33	MP0001186_pigmentation_phenotype	1.00999990
34	MP0002269_muscular_atrophy	0.98219698
35	MP0002254_reproductive_system_inflammat	0.97838685
36	MP0002160_abnormal_reproductive_system	0.94620224
37	MP0002332_abnormal_exercise_endurance	0.94162734
38	MP0005365_abnormal_bile_salt	0.92932186
39	MP0005330_cardiomyopathy	0.86838115
40	MP0002396_abnormal_hematopoietic_system	0.86377117
41	MP0003137_abnormal_impulse_conducting	0.80963331
42	MP0008057_abnormal_DNA_replication	0.77363648
43	MP0004043_abnormal_pH_regulation	0.75362908
44	MP0003252_abnormal_bile_duct	0.75146660
45	MP0001501_abnormal_sleep_pattern	0.74202987
46	MP0009115_abnormal_fat_cell	0.73682971
47	MP0001324_abnormal_eye_pigmentation	0.72210096
48	MP0009764_decreased_sensitivity_to	0.69399793
49	MP0003763_abnormal_thymus_physiology	0.68070410
50	MP0002971_abnormal_brown_adipose	0.63115856
51	MP0002735_abnormal_chemical_nociception	0.61326617
52	MP0001984_abnormal_olfaction	0.60855468
53	MP0004130_abnormal_muscle_cell	0.59824407
54	MP0005319_abnormal_enzyme/_coenzyme	0.58146969
55	MP0008770_decreased_survivor_rate	0.57041986
56	MP0001800_abnormal_humoral_immune	0.53454202
57	MP0004484_altered_response_of	0.53171447
58	MP0005451_abnormal_body_composition	0.52313106
59	MP0000383_abnormal_hair_follicle	0.48839190
60	MP0000377_abnormal_hair_follicle	0.48175595
61	MP0010307_abnormal_tumor_latency	0.48046022
62	MP0005389_reproductive_system_phenotype	0.46646508
63	MP0002876_abnormal_thyroid_physiology	0.44477499
64	MP0005266_abnormal_metabolism	0.42512070
65	MP0000367_abnormal_coat/_hair	0.42295161
66	MP0002009_preneoplasia	0.40215114
67	MP0001661_extended_life_span	0.40114725
68	MP0002928_abnormal_bile_duct	0.39892376
69	MP0000371_diluted_coat_color	0.39205905
70	MP0000372_irregular_coat_pigmentation	0.38890849
71	MP0000534_abnormal_ureter_morphology	0.35121006
72	MP0001790_abnormal_immune_system	0.35068055
73	MP0005387_immune_system_phenotype	0.35068055
74	MP0001486_abnormal_startle_reflex	0.34518825
75	MP0003632_abnormal_nervous_system	0.34272928
76	MP0003959_abnormal_lean_body	0.34185020
77	MP0002106_abnormal_muscle_physiology	0.31131550
78	MP0002060_abnormal_skin_morphology	0.30485408
79	MP0002452_abnormal_antigen_presenting	0.30239092
80	MP0008569_lethality_at_weaning	0.28091032
81	MP0008874_decreased_physiological_sensi	0.27200819
82	MP0010678_abnormal_skin_adnexa	0.26437823
83	MP0005620_abnormal_muscle_contractility	0.25752810
84	MP0003878_abnormal_ear_physiology	0.25000223
85	MP0005377_hearing/vestibular/ear_phenot	0.25000223
86	MP0002229_neurodegeneration	0.24674026
87	MP0005448_abnormal_energy_balance	0.24122475
88	MP0000470_abnormal_stomach_morphology	0.23587384
89	MP0001970_abnormal_pain_threshold	0.23149107
90	MP0002722_abnormal_immune_system	0.22424104
91	MP0005647_abnormal_sex_gland	0.21958161
92	MP0005410_abnormal_fertilization	0.21280914
93	MP0003453_abnormal_keratinocyte_physiol	0.19953403
94	MP0002272_abnormal_nervous_system	0.18839856
95	MP0002723_abnormal_immune_serum	0.18813774
96	MP0005666_abnormal_adipose_tissue	0.18782928
97	MP0001845_abnormal_inflammatory_respons	0.18392591
98	MP0000685_abnormal_immune_system	0.18300753
99	MP0004142_abnormal_muscle_tone	0.18107979
100	MP0003724_increased_susceptibility_to	0.17966984

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Amelogenesis imperfecta (HP:0000705)	9.51584144
2	Focal motor seizures (HP:0011153)	8.37872673
3	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	8.03230208
4	Parakeratosis (HP:0001036)	7.80576465
5	Acanthocytosis (HP:0001927)	7.44882656
6	Aplastic anemia (HP:0001915)	5.64149608
7	Congenital ichthyosiform erythroderma (HP:0007431)	4.85437912
8	Proximal amyotrophy (HP:0007126)	4.74302526
9	Spontaneous hematomas (HP:0007420)	4.70351622
10	Hematochezia (HP:0002573)	4.64926629
11	Dialeptic seizures (HP:0011146)	4.63107522
12	Vertebral arch anomaly (HP:0008438)	4.43769314
13	Rectal prolapse (HP:0002035)	4.26434416
14	Erythroderma (HP:0001019)	4.07641796
15	Scapular winging (HP:0003691)	3.81151304
16	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.68045039
17	Colon cancer (HP:0003003)	3.67089567
18	Difficulty walking (HP:0002355)	3.64739473
19	Conjunctival telangiectasia (HP:0000524)	3.58395105
20	Aplasia/Hypoplasia of the uvula (HP:0010293)	3.58045632
21	Focal seizures (HP:0007359)	3.53406361
22	Bilateral sensorineural hearing impairment (HP:0008619)	3.46813117
23	Esophageal varix (HP:0002040)	3.45378345
24	Poikilocytosis (HP:0004447)	3.44027461
25	Ulnar bowing (HP:0003031)	3.38503573
26	Pancreatic cysts (HP:0001737)	3.15042258
27	Overlapping toe (HP:0001845)	3.13697721
28	Gangrene (HP:0100758)	2.99964941
29	Autoimmune hemolytic anemia (HP:0001890)	2.99621288
30	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.97041029
31	Radial bowing (HP:0002986)	2.91922007
32	Broad ribs (HP:0000885)	2.90758591
33	Ulnar claw (HP:0001178)	2.90267686
34	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.86848475
35	IgM deficiency (HP:0002850)	2.86262884
36	Hypoplastic iliac wings (HP:0002866)	2.75975490
37	Portal hypertension (HP:0001409)	2.74843663
38	Potter facies (HP:0002009)	2.74728789
39	Facial shape deformation (HP:0011334)	2.74728789
40	Enlarged kidneys (HP:0000105)	2.67184314
41	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.60367680
42	Albinism (HP:0001022)	2.56910473
43	Colitis (HP:0002583)	2.53530457
44	Lack of skin elasticity (HP:0100679)	2.51193669
45	Abnormality of the hepatic vasculature (HP:0006707)	2.47568296
46	Abnormality of the fingertips (HP:0001211)	2.47326553
47	Thickened calvaria (HP:0002684)	2.46753069
48	Abnormality of the renal cortex (HP:0011035)	2.45396005
49	Chronic diarrhea (HP:0002028)	2.36708772
50	Petechiae (HP:0000967)	2.31305665
51	Decreased circulating renin level (HP:0003351)	2.28240146
52	Synostosis of carpal bones (HP:0005048)	2.25650312
53	Abnormality of the shoulder girdle musculature (HP:0001435)	2.23554452
54	Dehydration (HP:0001944)	2.21107634
55	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.20946654
56	Progressive inability to walk (HP:0002505)	2.12798337
57	Peripheral hypomyelination (HP:0007182)	2.11943505
58	Tarsal synostosis (HP:0008368)	2.11566724
59	Cerebellar dysplasia (HP:0007033)	2.11074373
60	IgA deficiency (HP:0002720)	2.10837359
61	Stomach cancer (HP:0012126)	2.09994977
62	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.08263306
63	Palmoplantar keratoderma (HP:0000982)	2.07489160
64	Abnormality of the renal medulla (HP:0100957)	2.01314342
65	Abnormality of potassium homeostasis (HP:0011042)	2.00857938
66	Tubular atrophy (HP:0000092)	1.98917048
67	Hypokalemia (HP:0002900)	1.98824789
68	Visceral angiomatosis (HP:0100761)	1.97585864
69	Abnormal albumin level (HP:0012116)	1.94646973
70	Hypoalbuminemia (HP:0003073)	1.94646973
71	Severe visual impairment (HP:0001141)	1.94634292
72	Hyperkalemia (HP:0002153)	1.91255965
73	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.89326519
74	Hemangiomatosis (HP:0007461)	1.89112829
75	Tubulointerstitial fibrosis (HP:0005576)	1.88786258
76	Onion bulb formation (HP:0003383)	1.88358261
77	Synostosis involving bones of the lower limbs (HP:0009138)	1.85177040
78	Synostosis involving bones of the feet (HP:0009140)	1.85177040
79	Neoplasm of the small intestine (HP:0100833)	1.84731491
80	Abnormality of the wing of the ilium (HP:0011867)	1.84558112
81	Abnormality of the vocal cords (HP:0008777)	1.83563765
82	Pendular nystagmus (HP:0012043)	1.79139645
83	Right ventricular cardiomyopathy (HP:0011663)	1.77009857
84	Recurrent sinusitis (HP:0011108)	1.76909243
85	Chromsome breakage (HP:0040012)	1.76866349
86	Bowing of the arm (HP:0006488)	1.72650528
87	Bowed forearm bones (HP:0003956)	1.72650528
88	Type I transferrin isoform profile (HP:0003642)	1.70263255
89	Aortic valve stenosis (HP:0001650)	1.70227776
90	Asymmetric septal hypertrophy (HP:0001670)	1.68186966
91	Deformed sella turcica (HP:0002681)	1.64881392
92	Abnormality of macular pigmentation (HP:0008002)	1.63182417
93	Hemoptysis (HP:0002105)	1.62440789
94	Gastrointestinal stroma tumor (HP:0100723)	1.59878197
95	Increased cerebral lipofuscin (HP:0011813)	1.56064309
96	Macular degeneration (HP:0000608)	1.53931432
97	Gaze-evoked nystagmus (HP:0000640)	1.53865520
98	Opisthotonus (HP:0002179)	1.51675255
99	Cystic liver disease (HP:0006706)	1.51667466
100	Clumsiness (HP:0002312)	1.51585283

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK38L	7.25841998
2	LATS2	6.46484888
3	ACVR1B	3.03666194
4	STK38	2.75988598
5	FRK	2.74925467
6	NLK	2.65448028
7	PRKD3	2.55493655
8	ZAK	2.40930712
9	STK3	2.24220346
10	MELK	2.14975000
11	LATS1	10.6915867
12	MAP2K2	1.97780663
13	BMPR1B	1.73858306
14	MAP3K2	1.33520643
15	PIK3CG	1.20884598
16	PRKAA2	1.15830412
17	GRK7	1.08960800
18	IRAK3	1.01394992
19	KSR2	0.99540675
20	PDPK1	0.97000493
21	TGFBR2	0.93989903
22	NEK2	0.87462645
23	EIF2AK3	0.84122024
24	TGFBR1	0.71958248
25	CSNK1A1L	0.67361003
26	AKT3	0.65478696
27	PRKD1	0.65405305
28	TAF1	0.62138742
29	ADRBK1	0.60328168
30	NEK9	0.54863307
31	TAOK3	0.54581788
32	PINK1	0.47251396
33	MOS	0.45703832
34	MAP2K1	0.43705009
35	PIM1	0.43217800
36	DAPK2	0.42676539
37	STK10	0.40915497
38	STK11	0.39201171
39	IRAK4	0.38975820
40	TNK2	0.33601427
41	STK24	0.31688462
42	GRK5	0.31343894
43	EPHA2	0.30166605
44	NME1	0.29032763
45	NEK6	0.28387278
46	MAP3K7	0.27983629
47	IRAK1	0.26686750
48	TEC	0.24264936
49	FER	0.23536709
50	ADRBK2	0.22672797
51	MKNK2	0.22098704
52	TRPM7	0.21352310
53	ITK	0.21204406
54	MAP3K1	0.21153138
55	RET	0.19908047
56	TXK	0.19487591
57	JAK2	0.18805966
58	IKBKE	0.18318582
59	MAPK3	0.17819387
60	BTK	0.16726630
61	ABL1	0.15779945
62	CSNK1D	0.13613233
63	TTK	0.12990359
64	IRAK2	0.12925930
65	MAPK1	0.11690357
66	PDGFRB	0.11361875
67	WNK1	0.09630941
68	CHEK2	0.09101757
69	SGK2	0.09034863
70	MARK3	0.09033052
71	MAPK7	0.07427274
72	MARK2	0.06037518
73	MAPK8	0.05855279
74	CDK12	0.05735499
75	JAK1	0.05311988
76	CHUK	0.05188206
77	PTK2B	0.04396657
78	MAP2K3	0.03848552
79	CDK3	0.03822001
80	PDK1	0.03744658
81	HCK	0.03493860
82	EPHA3	0.03017545
83	BLK	0.02670544
84	IKBKB	0.02386192
85	AKT1	0.02297808
86	PRKCI	0.01530153
87	AKT2	0.01386256
88	EEF2K	0.00722172
89	PIK3CA	-0.0447854
90	LCK	-0.0429101
91	OBSCN	-0.0380689
92	GSK3B	-0.0361543
93	MTOR	-0.0299041
94	EIF2AK2	-0.0222155
95	PLK1	-0.0219358
96	PRKACA	-0.0164295
97	OXSR1	-0.0120098
98	KIT	-0.0092615
99	MAP3K14	-0.0070046
100	PRKACB	-0.0039949

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	7.59972811
2	Sphingolipid metabolism_Homo sapiens_hsa00600	4.18694486
3	Phototransduction_Homo sapiens_hsa04744	3.98967068
4	Dorso-ventral axis formation_Homo sapiens_hsa04320	3.30885431
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.13830486
6	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.91667710
7	Nicotine addiction_Homo sapiens_hsa05033	2.33776496
8	Taste transduction_Homo sapiens_hsa04742	1.92153815
9	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.82010811
10	Phenylalanine metabolism_Homo sapiens_hsa00360	1.66638591
11	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.62868073
12	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.62333139
13	Morphine addiction_Homo sapiens_hsa05032	1.59479978
14	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.57075246
15	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.44912271
16	VEGF signaling pathway_Homo sapiens_hsa04370	1.36444304
17	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.31145055
18	Sphingolipid signaling pathway_Homo sapiens_hsa04071	1.30560076
19	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.23688586
20	ABC transporters_Homo sapiens_hsa02010	1.22789158
21	Calcium signaling pathway_Homo sapiens_hsa04020	1.19594046
22	GABAergic synapse_Homo sapiens_hsa04727	1.11430224
23	Viral myocarditis_Homo sapiens_hsa05416	1.10890635
24	Adherens junction_Homo sapiens_hsa04520	1.04393000
25	Histidine metabolism_Homo sapiens_hsa00340	1.01097439
26	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.00908314
27	Colorectal cancer_Homo sapiens_hsa05210	0.98159128
28	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.97183564
29	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.96497707
30	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.93097320
31	Pancreatic cancer_Homo sapiens_hsa05212	0.89818053
32	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.84939591
33	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.82578983
34	Tryptophan metabolism_Homo sapiens_hsa00380	0.82575218
35	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.79934338
36	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.77143717
37	Lysine degradation_Homo sapiens_hsa00310	0.76946240
38	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.76805451
39	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.75264494
40	Tuberculosis_Homo sapiens_hsa05152	0.73262197
41	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.69733736
42	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.69672762
43	Serotonergic synapse_Homo sapiens_hsa04726	0.69634138
44	Thyroid cancer_Homo sapiens_hsa05216	0.69373628
45	cAMP signaling pathway_Homo sapiens_hsa04024	0.68780028
46	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.67490463
47	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.67353619
48	Acute myeloid leukemia_Homo sapiens_hsa05221	0.66110842
49	Nitrogen metabolism_Homo sapiens_hsa00910	0.64682528
50	ECM-receptor interaction_Homo sapiens_hsa04512	0.64389740
51	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.62735249
52	Glutamatergic synapse_Homo sapiens_hsa04724	0.61128463
53	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.61090107
54	Glycerolipid metabolism_Homo sapiens_hsa00561	0.61009313
55	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.59764768
56	One carbon pool by folate_Homo sapiens_hsa00670	0.59755030
57	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.59387004
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.58607234
59	Tyrosine metabolism_Homo sapiens_hsa00350	0.58162912
60	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.54924537
61	FoxO signaling pathway_Homo sapiens_hsa04068	0.53308008
62	Bile secretion_Homo sapiens_hsa04976	0.51757161
63	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.49962965
64	Type II diabetes mellitus_Homo sapiens_hsa04930	0.47860933
65	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.47172656
66	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.44870991
67	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.43957440
68	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.42103373
69	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.38295937
70	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.38119655
71	Hippo signaling pathway_Homo sapiens_hsa04390	0.37677228
72	Circadian rhythm_Homo sapiens_hsa04710	0.37654048
73	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.36430426
74	Basal transcription factors_Homo sapiens_hsa03022	0.35802379
75	MicroRNAs in cancer_Homo sapiens_hsa05206	0.35240013
76	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.34965995
77	Estrogen signaling pathway_Homo sapiens_hsa04915	0.33785317
78	Platelet activation_Homo sapiens_hsa04611	0.33537507
79	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.32942926
80	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.32554240
81	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.31596014
82	African trypanosomiasis_Homo sapiens_hsa05143	0.30837968
83	Olfactory transduction_Homo sapiens_hsa04740	0.30642040
84	Cholinergic synapse_Homo sapiens_hsa04725	0.30163266
85	Salivary secretion_Homo sapiens_hsa04970	0.30009275
86	Butanoate metabolism_Homo sapiens_hsa00650	0.28394331
87	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.28097630
88	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.27074241
89	Osteoclast differentiation_Homo sapiens_hsa04380	0.26502994
90	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.25935847
91	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.24959107
92	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.24906783
93	TNF signaling pathway_Homo sapiens_hsa04668	0.22274774
94	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.22148379
95	Melanogenesis_Homo sapiens_hsa04916	0.20645772
96	Endometrial cancer_Homo sapiens_hsa05213	0.20487607
97	Linoleic acid metabolism_Homo sapiens_hsa00591	0.19582557
98	beta-Alanine metabolism_Homo sapiens_hsa00410	0.19467533
99	Focal adhesion_Homo sapiens_hsa04510	0.19426099
100	Cell cycle_Homo sapiens_hsa04110	0.18901795

MARK2P8

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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