ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of odontogenesis of dentin-containing tooth (GO:0042487)	9.48966585
2	DNA methylation involved in gamete generation (GO:0043046)	8.95999395
3	lipopolysaccharide biosynthetic process (GO:0009103)	8.73331569
4	protein-chromophore linkage (GO:0018298)	8.51423356
5	regulation of meiosis I (GO:0060631)	8.18751962
6	lipopolysaccharide metabolic process (GO:0008653)	7.75574365
7	regulation of protein glycosylation (GO:0060049)	7.66239097
8	negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)	7.61193888
9	regulation of pigment cell differentiation (GO:0050932)	7.50209782
10	negative regulation of glycoprotein biosynthetic process (GO:0010561)	7.25775533
11	positive regulation of developmental pigmentation (GO:0048087)	7.19086878
12	sulfate transmembrane transport (GO:1902358)	7.18243260
13	paraxial mesoderm development (GO:0048339)	6.89061092
14	negative regulation of cell cycle G2/M phase transition (GO:1902750)	6.74300812
15	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	6.61185368
16	piRNA metabolic process (GO:0034587)	6.44724028
17	sulfate transport (GO:0008272)	6.09918785
18	L-phenylalanine catabolic process (GO:0006559)	5.93092105
19	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	5.93092105
20	SMAD protein complex assembly (GO:0007183)	5.55206077
21	negative regulation of glycoprotein metabolic process (GO:1903019)	5.41181188
22	notochord development (GO:0030903)	5.34655747
23	tyrosine metabolic process (GO:0006570)	5.31044298
24	heme transport (GO:0015886)	5.22818083
25	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	5.02589337
26	L-phenylalanine metabolic process (GO:0006558)	5.02589337
27	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.97185061
28	ribonucleoprotein complex disassembly (GO:0032988)	4.93238336
29	centriole replication (GO:0007099)	4.78536567
30	positive regulation of meiosis (GO:0045836)	4.74655549
31	negative regulation of stem cell proliferation (GO:2000647)	4.63856499
32	meiotic chromosome segregation (GO:0045132)	4.51677551
33	nodal signaling pathway (GO:0038092)	4.49562603
34	regulation of odontogenesis (GO:0042481)	4.41061613
35	positive regulation of meiotic cell cycle (GO:0051446)	4.40300265
36	serotonin receptor signaling pathway (GO:0007210)	4.30636596
37	regulation of transforming growth factor beta2 production (GO:0032909)	4.27271488
38	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	4.26393359
39	regulation of interleukin-5 production (GO:0032674)	4.15859542
40	regulation of rhodopsin mediated signaling pathway (GO:0022400)	4.02500843
41	glycerol metabolic process (GO:0006071)	3.93457626
42	tachykinin receptor signaling pathway (GO:0007217)	3.91348775
43	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.84401924
44	organelle disassembly (GO:1903008)	3.83809539
45	germinal center formation (GO:0002467)	3.82297763
46	cellular response to gamma radiation (GO:0071480)	3.79347743
47	aromatic amino acid family catabolic process (GO:0009074)	3.78999801
48	response to epinephrine (GO:0071871)	3.77939438
49	flavonoid metabolic process (GO:0009812)	3.75773749
50	heart valve formation (GO:0003188)	3.75411833
51	response to mercury ion (GO:0046689)	3.72221457
52	protein retention in ER lumen (GO:0006621)	3.69942602
53	iron coordination entity transport (GO:1901678)	3.69511872
54	vitamin transmembrane transport (GO:0035461)	3.66535808
55	rhodopsin mediated signaling pathway (GO:0016056)	3.65743631
56	pantothenate metabolic process (GO:0015939)	3.62815833
57	regulation of developmental pigmentation (GO:0048070)	3.56891290
58	sulfur compound transport (GO:0072348)	3.53795117
59	sympathetic nervous system development (GO:0048485)	3.47170535
60	positive regulation of SMAD protein import into nucleus (GO:0060391)	3.45481365
61	negative regulation of neural precursor cell proliferation (GO:2000178)	3.44069457
62	alditol metabolic process (GO:0019400)	3.43594107
63	uterus development (GO:0060065)	3.42626252
64	negative regulation of cell-matrix adhesion (GO:0001953)	3.39239230
65	toxin metabolic process (GO:0009404)	3.38176338
66	DNA damage induced protein phosphorylation (GO:0006975)	3.37108636
67	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	3.30109032
68	somite rostral/caudal axis specification (GO:0032525)	3.26737091
69	centriole assembly (GO:0098534)	3.24670212
70	embryonic process involved in female pregnancy (GO:0060136)	3.24367545
71	regulation of keratinocyte proliferation (GO:0010837)	3.22974811
72	aromatic amino acid family metabolic process (GO:0009072)	3.22867584
73	DNA methylation (GO:0006306)	3.19594961
74	DNA alkylation (GO:0006305)	3.19594961
75	inflammatory response to antigenic stimulus (GO:0002437)	3.19249560
76	aspartate family amino acid catabolic process (GO:0009068)	3.12900496
77	organ induction (GO:0001759)	3.12795696
78	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.10916241
79	lysine catabolic process (GO:0006554)	3.07939761
80	lysine metabolic process (GO:0006553)	3.07939761
81	regulation of hair follicle development (GO:0051797)	3.05860539
82	protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	3.01353501
83	urate metabolic process (GO:0046415)	3.01178599
84	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.99683303
85	regulation of translational termination (GO:0006449)	2.98052996
86	biotin metabolic process (GO:0006768)	2.94571116
87	positive regulation of fatty acid oxidation (GO:0046321)	2.94110507
88	negative regulation of BMP signaling pathway (GO:0030514)	2.91580662
89	regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	2.89129196
90	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.87933023
91	polyol biosynthetic process (GO:0046173)	2.84127525
92	membrane lipid biosynthetic process (GO:0046467)	2.83829830
93	mesenchyme morphogenesis (GO:0072132)	2.81426974
94	DNA deamination (GO:0045006)	2.80481285
95	sphingolipid biosynthetic process (GO:0030148)	2.79949180
96	oogenesis (GO:0048477)	2.72011445
97	positive regulation of vascular permeability (GO:0043117)	2.71083394
98	sphingosine metabolic process (GO:0006670)	16.8128705
99	diol metabolic process (GO:0034311)	15.1880217
100	sphingoid metabolic process (GO:0046519)	13.5718275

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	AR_21572438_ChIP-Seq_LNCaP_Human	4.92307681
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.70493938
3	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.50778944
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.03675601
5	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.96115311
6	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.80213018
7	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.66803843
8	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.64995416
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.51685124
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.35984595
11	P300_19829295_ChIP-Seq_ESCs_Human	2.23003859
12	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.16549981
13	EZH2_22144423_ChIP-Seq_EOC_Human	2.08482367
14	ER_23166858_ChIP-Seq_MCF-7_Human	2.00314888
15	ZNF274_21170338_ChIP-Seq_K562_Hela	1.94300462
16	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.90491086
17	EGR1_19032775_ChIP-ChIP_M12_Human	1.90006043
18	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.88899424
19	NANOG_19829295_ChIP-Seq_ESCs_Human	1.83744618
20	SOX2_19829295_ChIP-Seq_ESCs_Human	1.83744618
21	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.79255248
22	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.79255248
23	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.78900967
24	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.78322437
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.77171524
26	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.68173873
27	HOXB7_26014856_ChIP-Seq_BT474_Human	1.63610670
28	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.63031618
29	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.61423833
30	STAT3_23295773_ChIP-Seq_U87_Human	1.60526893
31	TCF4_23295773_ChIP-Seq_U87_Human	1.60300064
32	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	1.55465800
33	VDR_22108803_ChIP-Seq_LS180_Human	1.52741882
34	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.50654753
35	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.50150486
36	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.47137704
37	STAT1_20625510_ChIP-Seq_HELA_Human	1.45925415
38	AR_25329375_ChIP-Seq_VCAP_Human	1.43513695
39	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.43136708
40	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.41587955
41	STAT3_18555785_ChIP-Seq_MESCs_Mouse	1.39936041
42	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.39740857
43	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.33544672
44	SMAD4_21799915_ChIP-Seq_A2780_Human	1.33309899
45	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.32410144
46	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.32101545
47	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.29111550
48	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.27726256
49	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.27515186
50	OCT4_20526341_ChIP-Seq_ESCs_Human	1.27165330
51	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.26736070
52	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.26277423
53	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.26103776
54	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.23692546
55	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.23165620
56	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.21744847
57	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.21065637
58	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.20823064
59	AR_19668381_ChIP-Seq_PC3_Human	1.19424767
60	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.19320204
61	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.19164620
62	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.18074626
63	NCOR_22424771_ChIP-Seq_293T_Human	1.16411673
64	CBP_20019798_ChIP-Seq_JUKART_Human	1.16169524
65	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.16169524
66	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.15671792
67	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.15278126
68	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.14318056
69	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.14192724
70	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.14027573
71	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.14004958
72	TP53_18474530_ChIP-ChIP_U2OS_Human	1.12998969
73	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.12603628
74	TP53_16413492_ChIP-PET_HCT116_Human	1.08631561
75	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.07672699
76	TCF4_22108803_ChIP-Seq_LS180_Human	1.07550067
77	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.06237184
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06232629
79	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.05340923
80	FUS_26573619_Chip-Seq_HEK293_Human	1.04550492
81	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.04266979
82	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.04236137
83	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.04115559
84	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.04115559
85	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	1.03439587
86	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.02605909
87	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.01168654
88	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.00832534
89	TAF15_26573619_Chip-Seq_HEK293_Human	1.00255328
90	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.99505380
91	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.99315313
92	CDX2_22108803_ChIP-Seq_LS180_Human	0.99157778
93	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.98238727
94	CJUN_26792858_Chip-Seq_BT549_Human	0.96434761
95	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.96259051
96	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.95855309
97	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.95206034
98	CEBPB_22108803_ChIP-Seq_LS180_Human	0.95144974
99	STAT1_17558387_ChIP-Seq_HELA_Human	0.93565005
100	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.92918120

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	9.16084801
2	MP0003136_yellow_coat_color	8.01438218
3	MP0005171_absent_coat_pigmentation	7.52126018
4	MP0002653_abnormal_ependyma_morphology	5.97761987
5	MP0003045_fibrosis	4.67083489
6	MP0003890_abnormal_embryonic-extraembry	4.56448675
7	MP0003646_muscle_fatigue	4.12925057
8	MP0000569_abnormal_digit_pigmentation	3.48794615
9	MP0003879_abnormal_hair_cell	3.26973850
10	MP0004381_abnormal_hair_follicle	3.01945835
11	MP0002138_abnormal_hepatobiliary_system	2.36607818
12	MP0000749_muscle_degeneration	2.22451188
13	MP0005670_abnormal_white_adipose	2.15540125
14	MP0005085_abnormal_gallbladder_physiolo	2.10963548
15	MP0002938_white_spotting	2.07651362
16	MP0005075_abnormal_melanosome_morpholog	2.03274302
17	MP0002168_other_aberrant_phenotype	1.95562800
18	MP0003705_abnormal_hypodermis_morpholog	1.92568809
19	MP0004147_increased_porphyrin_level	1.89915131
20	MP0003195_calcinosis	1.55243538
21	MP0010352_gastrointestinal_tract_polyps	1.52791577
22	MP0002095_abnormal_skin_pigmentation	1.41849552
23	MP0005365_abnormal_bile_salt	1.30137890
24	MP0002075_abnormal_coat/hair_pigmentati	1.28709852
25	MP0002160_abnormal_reproductive_system	1.20210378
26	MP0005174_abnormal_tail_pigmentation	1.13759185
27	MP0006054_spinal_hemorrhage	1.13495707
28	MP0003137_abnormal_impulse_conducting	1.10269908
29	MP0005395_other_phenotype	1.10196721
30	MP0004233_abnormal_muscle_weight	1.08561560
31	MP0005330_cardiomyopathy	0.92381297
32	MP0003950_abnormal_plasma_membrane	0.91189751
33	MP0001186_pigmentation_phenotype	0.91173040
34	MP0002735_abnormal_chemical_nociception	0.89920855
35	MP0001984_abnormal_olfaction	0.87722004
36	MP0000427_abnormal_hair_cycle	0.86913377
37	MP0002269_muscular_atrophy	0.86058675
38	MP0003252_abnormal_bile_duct	0.82244757
39	MP0001501_abnormal_sleep_pattern	0.81585846
40	MP0004043_abnormal_pH_regulation	0.75912094
41	MP0000534_abnormal_ureter_morphology	0.69150377
42	MP0001324_abnormal_eye_pigmentation	0.67367293
43	MP0008770_decreased_survivor_rate	0.66871995
44	MP0000015_abnormal_ear_pigmentation	0.61890692
45	MP0001486_abnormal_startle_reflex	0.60260858
46	MP0002332_abnormal_exercise_endurance	0.60038878
47	MP0003300_gastrointestinal_ulcer	0.56168411
48	MP0002272_abnormal_nervous_system	0.55507426
49	MP0002876_abnormal_thyroid_physiology	0.55043873
50	MP0000372_irregular_coat_pigmentation	0.54566467
51	MP0002971_abnormal_brown_adipose	0.54355757
52	MP0009046_muscle_twitch	0.53673545
53	MP0008569_lethality_at_weaning	0.52418099
54	MP0005319_abnormal_enzyme/_coenzyme	0.51737640
55	MP0003878_abnormal_ear_physiology	0.50641549
56	MP0005377_hearing/vestibular/ear_phenot	0.50641549
57	MP0005389_reproductive_system_phenotype	0.50398134
58	MP0004130_abnormal_muscle_cell	0.49900214
59	MP0002928_abnormal_bile_duct	0.49724147
60	MP0004142_abnormal_muscle_tone	0.49604497
61	MP0005410_abnormal_fertilization	0.48051511
62	MP0005076_abnormal_cell_differentiation	0.48043448
63	MP0001970_abnormal_pain_threshold	0.47931372
64	MP0005551_abnormal_eye_electrophysiolog	0.47648897
65	MP0002751_abnormal_autonomic_nervous	0.46951222
66	MP0009745_abnormal_behavioral_response	0.44740930
67	MP0003937_abnormal_limbs/digits/tail_de	0.43854162
68	MP0002396_abnormal_hematopoietic_system	0.41486387
69	MP0002254_reproductive_system_inflammat	0.39736667
70	MP0001661_extended_life_span	0.38741625
71	MP0002102_abnormal_ear_morphology	0.37198516
72	MP0009115_abnormal_fat_cell	0.36029462
73	MP0005646_abnormal_pituitary_gland	0.35625440
74	MP0002572_abnormal_emotion/affect_behav	0.34740596
75	MP0002229_neurodegeneration	0.34345322
76	MP0009764_decreased_sensitivity_to	0.34174292
77	MP0002277_abnormal_respiratory_mucosa	0.33381691
78	MP0002733_abnormal_thermal_nociception	0.32558821
79	MP0002064_seizures	0.31206313
80	MP0003959_abnormal_lean_body	0.30024233
81	MP0005266_abnormal_metabolism	0.29679938
82	MP0010307_abnormal_tumor_latency	0.29141855
83	MP0008872_abnormal_physiological_respon	0.28465068
84	MP0002106_abnormal_muscle_physiology	0.28307771
85	MP0006276_abnormal_autonomic_nervous	0.28143667
86	MP0000026_abnormal_inner_ear	0.26848330
87	MP0003385_abnormal_body_wall	0.26232857
88	MP0005253_abnormal_eye_physiology	0.24889186
89	MP0003763_abnormal_thymus_physiology	0.24667624
90	MP0000230_abnormal_systemic_arterial	0.23639772
91	MP0000377_abnormal_hair_follicle	0.23278232
92	MP0004484_altered_response_of	0.22880876
93	MP0005448_abnormal_energy_balance	0.22308567
94	MP0003632_abnormal_nervous_system	0.21635022
95	MP0005620_abnormal_muscle_contractility	0.21526855
96	MP0008874_decreased_physiological_sensi	0.21409989
97	MP0003698_abnormal_male_reproductive	0.20486105
98	MP0002210_abnormal_sex_determination	0.19253267
99	MP0000383_abnormal_hair_follicle	0.18502470
100	MP0008875_abnormal_xenobiotic_pharmacok	0.17997325

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Amelogenesis imperfecta (HP:0000705)	9.88107134
2	Focal motor seizures (HP:0011153)	9.58936394
3	Acanthocytosis (HP:0001927)	7.46594199
4	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	7.26517721
5	Parakeratosis (HP:0001036)	6.87683301
6	Aplastic anemia (HP:0001915)	6.32190574
7	Dialeptic seizures (HP:0011146)	4.95188976
8	Proximal amyotrophy (HP:0007126)	4.67119743
9	Aplasia/Hypoplasia of the uvula (HP:0010293)	4.31657767
10	Colon cancer (HP:0003003)	4.29007142
11	Rectal prolapse (HP:0002035)	4.18701001
12	Pancreatic cysts (HP:0001737)	4.16136587
13	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.15954550
14	Spontaneous hematomas (HP:0007420)	4.15772535
15	Hematochezia (HP:0002573)	4.08815193
16	Congenital ichthyosiform erythroderma (HP:0007431)	4.03142695
17	Focal seizures (HP:0007359)	4.02200276
18	Vertebral arch anomaly (HP:0008438)	4.02077339
19	Scapular winging (HP:0003691)	3.74855684
20	Difficulty walking (HP:0002355)	3.72629476
21	Erythroderma (HP:0001019)	3.53956404
22	Poikilocytosis (HP:0004447)	3.36785582
23	Facial shape deformation (HP:0011334)	3.30915211
24	Potter facies (HP:0002009)	3.30915211
25	Conjunctival telangiectasia (HP:0000524)	3.16812808
26	Abnormality of the renal cortex (HP:0011035)	3.16233578
27	Radial bowing (HP:0002986)	3.15942287
28	Ulnar claw (HP:0001178)	3.10207412
29	Overlapping toe (HP:0001845)	3.04747800
30	Broad ribs (HP:0000885)	3.03044042
31	Esophageal varix (HP:0002040)	2.98798062
32	Enlarged kidneys (HP:0000105)	2.91276567
33	Ulnar bowing (HP:0003031)	2.89039060
34	Hypoplastic iliac wings (HP:0002866)	2.84427850
35	Bilateral sensorineural hearing impairment (HP:0008619)	2.84174502
36	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.82991960
37	Synostosis of carpal bones (HP:0005048)	2.63743245
38	Abnormality of the renal medulla (HP:0100957)	2.62897593
39	Petechiae (HP:0000967)	2.62707658
40	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.58454459
41	IgM deficiency (HP:0002850)	2.54132920
42	Portal hypertension (HP:0001409)	2.53834360
43	Progressive inability to walk (HP:0002505)	2.50962185
44	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.50785591
45	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.48671513
46	Pendular nystagmus (HP:0012043)	2.46010438
47	Autoimmune hemolytic anemia (HP:0001890)	2.43311618
48	Cerebellar dysplasia (HP:0007033)	2.31688938
49	Hypokalemia (HP:0002900)	2.31135202
50	Abnormality of the shoulder girdle musculature (HP:0001435)	2.30718063
51	Abnormality of the hepatic vasculature (HP:0006707)	2.29359204
52	Tarsal synostosis (HP:0008368)	2.26432587
53	Gangrene (HP:0100758)	2.26207732
54	Albinism (HP:0001022)	2.26002921
55	Tubular atrophy (HP:0000092)	2.24046152
56	Cystic liver disease (HP:0006706)	2.23498584
57	Chromsome breakage (HP:0040012)	2.22283510
58	Nephronophthisis (HP:0000090)	2.21558443
59	Abnormality of the vocal cords (HP:0008777)	2.19840806
60	Tubulointerstitial fibrosis (HP:0005576)	2.18756676
61	Severe visual impairment (HP:0001141)	2.10751795
62	Abnormality of potassium homeostasis (HP:0011042)	2.10592590
63	Decreased circulating renin level (HP:0003351)	2.10043508
64	Peripheral hypomyelination (HP:0007182)	2.08364728
65	Abnormality of macular pigmentation (HP:0008002)	2.06690807
66	Synostosis involving bones of the feet (HP:0009140)	2.06469099
67	Synostosis involving bones of the lower limbs (HP:0009138)	2.06469099
68	Type I transferrin isoform profile (HP:0003642)	2.04977636
69	Hypoalbuminemia (HP:0003073)	2.03190932
70	Abnormal albumin level (HP:0012116)	2.03190932
71	Chronic diarrhea (HP:0002028)	2.02157422
72	Thickened calvaria (HP:0002684)	2.00281112
73	Opisthotonus (HP:0002179)	2.00220349
74	Chronic hepatic failure (HP:0100626)	2.00088932
75	Type II lissencephaly (HP:0007260)	1.97767959
76	Dehydration (HP:0001944)	1.92902459
77	Retinitis pigmentosa (HP:0000510)	1.88801724
78	Lack of skin elasticity (HP:0100679)	1.86585830
79	Inability to walk (HP:0002540)	1.86304163
80	Colitis (HP:0002583)	1.85143769
81	Recurrent sinusitis (HP:0011108)	1.84602965
82	Pancytopenia (HP:0001876)	1.83065103
83	Bowing of the arm (HP:0006488)	1.82151082
84	Bowed forearm bones (HP:0003956)	1.82151082
85	Abnormality of the wing of the ilium (HP:0011867)	1.81131943
86	Neoplasm of the small intestine (HP:0100833)	1.79804575
87	Pancreatic fibrosis (HP:0100732)	1.79608058
88	Gastrointestinal stroma tumor (HP:0100723)	1.79355982
89	Purpura (HP:0000979)	1.74713316
90	Palmoplantar keratoderma (HP:0000982)	1.74641321
91	Visceral angiomatosis (HP:0100761)	1.73682630
92	Hemangiomatosis (HP:0007461)	1.70491730
93	Abnormal drinking behavior (HP:0030082)	1.70333827
94	Polydipsia (HP:0001959)	1.70333827
95	Abnormality of the fingertips (HP:0001211)	1.70092304
96	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.69399348
97	2-3 toe syndactyly (HP:0004691)	1.69385967
98	Aortic valve stenosis (HP:0001650)	1.69330383
99	Congenital stationary night blindness (HP:0007642)	1.64962053
100	Lipoatrophy (HP:0100578)	1.64094224

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK38L	7.37547921
2	LATS2	6.58360230
3	PRKD3	3.07801970
4	ACVR1B	2.86374245
5	STK38	2.76691056
6	FRK	2.70087930
7	ZAK	2.69012003
8	NLK	2.42860063
9	STK3	2.13059551
10	MAP2K2	2.06997165
11	LATS1	10.7788610
12	MELK	1.96190638
13	BMPR1B	1.93956932
14	MAP3K2	1.10989347
15	NEK2	1.10732577
16	GRK7	1.07628457
17	PIK3CG	1.05123467
18	PRKAA2	0.98312516
19	KSR2	0.93649786
20	PDPK1	0.92657857
21	TGFBR1	0.91858798
22	IRAK3	0.83321765
23	PINK1	0.82197269
24	TGFBR2	0.80689845
25	TAF1	0.79507961
26	EIF2AK3	0.71485283
27	NEK9	0.68939622
28	CSNK1A1L	0.68460601
29	PRKD1	0.65839553
30	MOS	0.65832618
31	TXK	0.64048158
32	ADRBK2	0.61381361
33	ADRBK1	0.60746553
34	DAPK2	0.52592232
35	NME1	0.49259733
36	GRK5	0.47580004
37	MAP2K1	0.42500380
38	WNK4	0.37065821
39	STK11	0.34575910
40	TAOK3	0.33730123
41	STK10	0.29676140
42	PIM1	0.28632222
43	TTK	0.27657215
44	TNK2	0.24472593
45	TEC	0.24204187
46	STK39	0.21398776
47	OXSR1	0.21201527
48	ITK	0.19644651
49	MAP3K7	0.18279499
50	CHEK2	0.17957826
51	PRKCI	0.17599195
52	CSNK1D	0.16536229
53	FER	0.15703296
54	PLK1	0.14429479
55	ABL1	0.13208135
56	MAPK3	0.12825483
57	NEK6	0.10211784
58	OBSCN	0.08914463
59	PRKCE	0.08394649
60	PRKACA	0.07403034
61	CDK19	0.07086374
62	PTK2B	0.06401353
63	CDK3	0.05780111
64	EIF2AK2	0.05630846
65	JAK2	0.05125812
66	CAMK2A	0.04945379
67	MAPK1	0.04898966
68	PLK2	0.04676758
69	AKT2	0.02973181
70	PRKACB	0.02855292
71	PRKCH	0.02532791
72	NUAK1	0.02031284
73	CAMK2B	0.01446604
74	NEK1	0.00442122
75	IRAK4	0.00196678
76	MAPK7	0.00170259
77	NTRK3	-0.0637305
78	MAPK13	-0.0634881
79	TLK1	-0.0607450
80	CDK5	-0.0564055
81	CSNK1A1	-0.0543056
82	KIT	-0.0542902
83	MKNK2	-0.0537454
84	RET	-0.0531651
85	AKT1	-0.0498345
86	MUSK	-0.0496320
87	TRPM7	-0.0408203
88	EPHA4	-0.0402929
89	GSK3B	-0.0383579
90	PDK1	-0.0297382
91	INSRR	-0.0236404
92	STK24	-0.0224437
93	MAPKAPK3	-0.0191181
94	ATR	-0.0154289
95	PRKCG	-0.0135712
96	GRK1	-0.0134174
97	BTK	-0.0118720
98	MAP3K1	-0.0085353
99	WNK3	-0.0079877
100	MAPK8	-0.0011553

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	8.36517395
2	Phototransduction_Homo sapiens_hsa04744	4.52868145
3	Sphingolipid metabolism_Homo sapiens_hsa00600	3.93775081
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	3.81891695
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	3.49853902
6	Nicotine addiction_Homo sapiens_hsa05033	3.13663664
7	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.93644125
8	Taste transduction_Homo sapiens_hsa04742	2.30354924
9	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.16493587
10	Phenylalanine metabolism_Homo sapiens_hsa00360	1.99837273
11	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.99454632
12	Morphine addiction_Homo sapiens_hsa05032	1.98264330
13	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.83296683
14	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.59202262
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.55535230
16	GABAergic synapse_Homo sapiens_hsa04727	1.53983031
17	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.42853349
18	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.35166716
19	Histidine metabolism_Homo sapiens_hsa00340	1.30575168
20	Calcium signaling pathway_Homo sapiens_hsa04020	1.29570506
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.27437360
22	One carbon pool by folate_Homo sapiens_hsa00670	1.26428118
23	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.25679077
24	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.14621548
25	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.08532692
26	Nitrogen metabolism_Homo sapiens_hsa00910	1.04397894
27	Viral myocarditis_Homo sapiens_hsa05416	1.02062014
28	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00898944
29	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.95429300
30	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.90587874
31	Glutamatergic synapse_Homo sapiens_hsa04724	0.89163251
32	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.88288295
33	ABC transporters_Homo sapiens_hsa02010	0.86758014
34	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.86592487
35	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.86291718
36	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.86082497
37	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.85651187
38	Serotonergic synapse_Homo sapiens_hsa04726	0.85564858
39	VEGF signaling pathway_Homo sapiens_hsa04370	0.85011098
40	Tyrosine metabolism_Homo sapiens_hsa00350	0.82820198
41	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.76989537
42	ECM-receptor interaction_Homo sapiens_hsa04512	0.72903535
43	Butanoate metabolism_Homo sapiens_hsa00650	0.72039407
44	Glycerolipid metabolism_Homo sapiens_hsa00561	0.71122754
45	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.68760561
46	Bile secretion_Homo sapiens_hsa04976	0.63871433
47	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.58469980
48	cAMP signaling pathway_Homo sapiens_hsa04024	0.58381659
49	Adherens junction_Homo sapiens_hsa04520	0.56847786
50	Lysine degradation_Homo sapiens_hsa00310	0.53788512
51	Hippo signaling pathway_Homo sapiens_hsa04390	0.53751641
52	Olfactory transduction_Homo sapiens_hsa04740	0.52380028
53	Basal transcription factors_Homo sapiens_hsa03022	0.51960785
54	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.51680036
55	Colorectal cancer_Homo sapiens_hsa05210	0.51206962
56	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.50569770
57	Collecting duct acid secretion_Homo sapiens_hsa04966	0.49540039
58	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.49234559
59	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.48012256
60	Selenocompound metabolism_Homo sapiens_hsa00450	0.47930922
61	Homologous recombination_Homo sapiens_hsa03440	0.47667973
62	beta-Alanine metabolism_Homo sapiens_hsa00410	0.47525091
63	Salivary secretion_Homo sapiens_hsa04970	0.43056463
64	Pyruvate metabolism_Homo sapiens_hsa00620	0.39965800
65	Circadian entrainment_Homo sapiens_hsa04713	0.39503366
66	Fatty acid degradation_Homo sapiens_hsa00071	0.37830748
67	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.37682889
68	Fanconi anemia pathway_Homo sapiens_hsa03460	0.36710727
69	Thyroid cancer_Homo sapiens_hsa05216	0.35907374
70	Chemical carcinogenesis_Homo sapiens_hsa05204	0.32562042
71	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.31649326
72	Basal cell carcinoma_Homo sapiens_hsa05217	0.29638973
73	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.27591193
74	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.27136546
75	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.26672542
76	Linoleic acid metabolism_Homo sapiens_hsa00591	0.25532122
77	Cholinergic synapse_Homo sapiens_hsa04725	0.23901346
78	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.23473405
79	Cell cycle_Homo sapiens_hsa04110	0.23384796
80	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.23077998
81	Pancreatic cancer_Homo sapiens_hsa05212	0.22522987
82	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.22463975
83	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.22284485
84	Oocyte meiosis_Homo sapiens_hsa04114	0.21519703
85	Insulin secretion_Homo sapiens_hsa04911	0.20975769
86	Gastric acid secretion_Homo sapiens_hsa04971	0.20898912
87	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.20168423
88	Melanogenesis_Homo sapiens_hsa04916	0.19815199
89	Type II diabetes mellitus_Homo sapiens_hsa04930	0.19113048
90	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.18801672
91	Retinol metabolism_Homo sapiens_hsa00830	0.18659167
92	Sulfur relay system_Homo sapiens_hsa04122	0.18515477
93	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.18352149
94	African trypanosomiasis_Homo sapiens_hsa05143	0.17727863
95	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.16991631
96	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.15985633
97	Tuberculosis_Homo sapiens_hsa05152	0.15612139
98	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.14740375
99	Arginine and proline metabolism_Homo sapiens_hsa00330	0.13631696
100	Metabolic pathways_Homo sapiens_hsa01100	0.13435968

OFD1P17

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)

Most similar genes based on co-expression Upload to Enrichr

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