ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	proline metabolic process (GO:0006560)	4.12307485
2	peptidyl-glutamic acid carboxylation (GO:0017187)	3.85788827
3	protein carboxylation (GO:0018214)	3.85788827
4	GDP-mannose metabolic process (GO:0019673)	3.65307443
5	pattern specification involved in kidney development (GO:0061004)	3.45790497
6	homocysteine metabolic process (GO:0050667)	3.36718756
7	sulfur amino acid catabolic process (GO:0000098)	3.35877906
8	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199	3.25626640
9	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.25562696
10	L-phenylalanine catabolic process (GO:0006559)	3.25562696
11	cysteine metabolic process (GO:0006534)	3.22133991
12	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.09655018
13	L-phenylalanine metabolic process (GO:0006558)	3.09655018
14	lung epithelium development (GO:0060428)	3.09402293
15	planar cell polarity pathway involved in neural tube closure (GO:0090179)	3.05966812
16	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.99156077
17	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	2.89755256
18	regulation of mitochondrial translation (GO:0070129)	2.88894700
19	serine family amino acid catabolic process (GO:0009071)	2.85148980
20	purine nucleotide transport (GO:0015865)	2.83258028
21	positive regulation of smoothened signaling pathway (GO:0045880)	2.82319370
22	ATP synthesis coupled proton transport (GO:0015986)	2.80115303
23	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.80115303
24	cell proliferation involved in metanephros development (GO:0072203)	2.79602592
25	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.76898291
26	positive regulation of fatty acid beta-oxidation (GO:0032000)	2.76143576
27	proline biosynthetic process (GO:0006561)	2.75328880
28	cellular modified amino acid catabolic process (GO:0042219)	2.74006798
29	alanine transport (GO:0032328)	2.73349471
30	exogenous drug catabolic process (GO:0042738)	2.72816009
31	exocrine pancreas development (GO:0031017)	2.72359695
32	cellular ketone body metabolic process (GO:0046950)	2.71894489
33	histone H4-K12 acetylation (GO:0043983)	2.67956513
34	intestinal cholesterol absorption (GO:0030299)	2.66923737
35	purine ribonucleotide transport (GO:0015868)	2.64483362
36	RNA localization (GO:0006403)	2.63435594
37	adenine nucleotide transport (GO:0051503)	2.63054867
38	cochlea morphogenesis (GO:0090103)	2.56603367
39	epithelial cell fate commitment (GO:0072148)	2.55350043
40	protein-cofactor linkage (GO:0018065)	2.54858701
41	positive regulation of fatty acid oxidation (GO:0046321)	2.54627999
42	aromatic amino acid family catabolic process (GO:0009074)	2.52678129
43	otic vesicle formation (GO:0030916)	2.52222383
44	midbrain development (GO:0030901)	2.50619957
45	nephron epithelium morphogenesis (GO:0072088)	2.47897038
46	nephron tubule morphogenesis (GO:0072078)	2.47897038
47	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	2.47220870
48	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	2.47220870
49	hindbrain development (GO:0030902)	2.47089125
50	drug catabolic process (GO:0042737)	2.46763159
51	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.45639059
52	dopaminergic neuron differentiation (GO:0071542)	2.45517152
53	cell proliferation involved in kidney development (GO:0072111)	2.44611301
54	renal system development (GO:0072001)	2.44409028
55	positive regulation of gastrulation (GO:2000543)	2.44266684
56	axonemal dynein complex assembly (GO:0070286)	2.43801410
57	urinary tract smooth muscle contraction (GO:0014848)	2.43752337
58	ethanol metabolic process (GO:0006067)	2.42759708
59	negative regulation of cell aging (GO:0090344)	2.42198483
60	detection of light stimulus involved in sensory perception (GO:0050962)	2.41072021
61	detection of light stimulus involved in visual perception (GO:0050908)	2.41072021
62	response to misfolded protein (GO:0051788)	2.40968695
63	omega-hydroxylase P450 pathway (GO:0097267)	2.38891202
64	ketone body metabolic process (GO:1902224)	2.38073919
65	estrogen biosynthetic process (GO:0006703)	2.37977103
66	4-hydroxyproline metabolic process (GO:0019471)	2.36827092
67	nucleoside transmembrane transport (GO:1901642)	2.35492384
68	L-serine transport (GO:0015825)	2.34674596
69	serine family amino acid biosynthetic process (GO:0009070)	2.34588305
70	regulation of cell-cell adhesion mediated by cadherin (GO:2000047)	2.33092555
71	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.32327214
72	NADH dehydrogenase complex assembly (GO:0010257)	2.32327214
73	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.32327214
74	regulation of fibrinolysis (GO:0051917)	2.31848868
75	nucleoside transport (GO:0015858)	2.31826148
76	protein insertion into membrane (GO:0051205)	2.31759344
77	DNA replication checkpoint (GO:0000076)	2.31368848
78	regulation of fatty acid oxidation (GO:0046320)	2.30511141
79	alkaloid metabolic process (GO:0009820)	2.30229719
80	peptidyl-glutamic acid modification (GO:0018200)	2.27166637
81	Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	2.26404163
82	ethanol oxidation (GO:0006069)	2.25963157
83	alpha-amino acid catabolic process (GO:1901606)	2.24447254
84	neurotransmitter catabolic process (GO:0042135)	2.24180405
85	positive regulation of protein kinase C signaling (GO:0090037)	2.23648478
86	cellular amino acid catabolic process (GO:0009063)	2.22361734
87	regulation of cholesterol biosynthetic process (GO:0045540)	2.20995528
88	left/right pattern formation (GO:0060972)	2.20934715
89	regulation of establishment of planar polarity (GO:0090175)	2.19995506
90	endocrine pancreas development (GO:0031018)	2.19947505
91	regulation of synapse structural plasticity (GO:0051823)	2.19722760
92	DNA strand renaturation (GO:0000733)	2.19273453
93	cranial nerve development (GO:0021545)	2.18952045
94	rRNA modification (GO:0000154)	2.18479299
95	negative regulation of T cell differentiation in thymus (GO:0033085)	2.18328207
96	lateral sprouting from an epithelium (GO:0060601)	2.18306946
97	L-alpha-amino acid transmembrane transport (GO:1902475)	2.16875846
98	branching involved in salivary gland morphogenesis (GO:0060445)	2.15956235
99	artery smooth muscle contraction (GO:0014824)	2.15788599
100	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.15186177

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.48678366
2	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.67740203
3	ZNF263_19887448_ChIP-Seq_K562_Human	2.42140135
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.36733144
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.36189065
6	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.35334222
7	XRN2_22483619_ChIP-Seq_HELA_Human	2.28690992
8	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.27507945
9	ERG_21242973_ChIP-ChIP_JURKAT_Human	2.20213793
10	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.18239128
11	P68_20966046_ChIP-Seq_HELA_Human	1.90172624
12	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.89674710
13	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.86936457
14	CTCF_27219007_Chip-Seq_Bcells_Human	1.84862331
15	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.75222992
16	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.74965371
17	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.72221464
18	LXR_22292898_ChIP-Seq_THP-1_Human	1.70991319
19	RACK7_27058665_Chip-Seq_MCF-7_Human	1.68744739
20	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.68717850
21	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.67782686
22	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.63617353
23	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.61015184
24	E2F1_20622854_ChIP-Seq_HELA_Human	1.57526405
25	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.52552539
26	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.52474463
27	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.49252830
28	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.48067645
29	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.44731069
30	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.44471353
31	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.43930150
32	SMC4_20622854_ChIP-Seq_HELA_Human	1.41524421
33	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.40327453
34	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.38545482
35	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.36775641
36	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.34653513
37	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.33742070
38	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.33620999
39	ERA_21632823_ChIP-Seq_H3396_Human	1.33255838
40	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.32652537
41	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.32446450
42	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.31356943
43	PHF8_20622854_ChIP-Seq_HELA_Human	1.29044602
44	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.28219628
45	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.27852355
46	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.27798031
47	BCOR_27268052_Chip-Seq_Bcells_Human	1.26506964
48	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.24031958
49	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.23396749
50	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.22406890
51	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.20131526
52	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.19664115
53	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.18073491
54	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.16786314
55	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.16266243
56	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.15835652
57	CREB1_26743006_Chip-Seq_LNCaP_Human	1.15079353
58	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.13533143
59	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.12312662
60	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.11102428
61	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.10591296
62	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.09847629
63	TTF2_22483619_ChIP-Seq_HELA_Human	1.09762425
64	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.09696069
65	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.08598783
66	CTCF_20526341_ChIP-Seq_ESCs_Human	1.08010741
67	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.07734592
68	SETDB1_19884255_ChIP-Seq_MESCs_Mouse	1.05935780
69	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	1.04403281
70	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.03925789
71	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	1.03250169
72	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.03117618
73	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.01285141
74	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.00795454
75	BCL6_27268052_Chip-Seq_Bcells_Human	1.00514794
76	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.99686574
77	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	0.98865921
78	DCP1A_22483619_ChIP-Seq_HELA_Human	0.98101242
79	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.97974745
80	VDR_21846776_ChIP-Seq_THP-1_Human	0.96416924
81	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.95898807
82	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95759427
83	TP53_22127205_ChIP-Seq_IMR90_Human	0.95173039
84	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.93949859
85	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.93779050
86	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.93018671
87	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.92690876
88	SOX3_22085726_ChIP-Seq_NPCs_Mouse	0.92646693
89	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	0.92187755
90	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.92123338
91	DNAJC2_21179169_ChIP-ChIP_NT2_Human	0.92077274
92	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.91681887
93	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.91500911
94	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.90919497
95	KDM5A_27292631_Chip-Seq_BREAST_Human	0.90805457
96	SRY_22984422_ChIP-ChIP_TESTIS_Rat	0.90483331
97	ELF1_20517297_ChIP-Seq_JURKAT_Human	0.90469830
98	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.90220858
99	CTCF_21964334_Chip-Seq_Bcells_Human	0.89468778
100	SA1_27219007_Chip-Seq_Bcells_Human	0.89439546

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000566_synostosis	4.47363273
2	MP0003136_yellow_coat_color	4.29474447
3	MP0008875_abnormal_xenobiotic_pharmacok	2.96973833
4	MP0010030_abnormal_orbit_morphology	2.69460904
5	MP0005084_abnormal_gallbladder_morpholo	2.48144545
6	MP0002938_white_spotting	2.47047023
7	MP0002249_abnormal_larynx_morphology	2.34128438
8	MP0009780_abnormal_chondrocyte_physiolo	2.32538431
9	MP0009379_abnormal_foot_pigmentation	2.26455289
10	MP0001188_hyperpigmentation	2.13389503
11	MP0005083_abnormal_biliary_tract	2.08821577
12	MP0006292_abnormal_olfactory_placode	1.96585128
13	MP0002139_abnormal_hepatobiliary_system	1.92321718
14	MP0005365_abnormal_bile_salt	1.89435155
15	MP0002282_abnormal_trachea_morphology	1.85926116
16	MP0005332_abnormal_amino_acid	1.82950897
17	MP0005670_abnormal_white_adipose	1.80175144
18	MP0005377_hearing/vestibular/ear_phenot	1.79996034
19	MP0003878_abnormal_ear_physiology	1.79996034
20	MP0002909_abnormal_adrenal_gland	1.75388993
21	MP0005171_absent_coat_pigmentation	1.66158070
22	MP0005409_darkened_coat_color	1.62192916
23	MP0005423_abnormal_somatic_nervous	1.62144340
24	MP0004133_heterotaxia	1.59352653
25	MP0002653_abnormal_ependyma_morphology	1.51487132
26	MP0002928_abnormal_bile_duct	1.50689677
27	MP0001529_abnormal_vocalization	1.48554031
28	MP0001944_abnormal_pancreas_morphology	1.35471968
29	MP0005220_abnormal_exocrine_pancreas	1.34164608
30	MP0002089_abnormal_postnatal_growth/wei	1.29270875
31	MP0003122_maternal_imprinting	1.28448782
32	MP0002876_abnormal_thyroid_physiology	1.25235501
33	MP0001764_abnormal_homeostasis	1.25174739
34	MP0003283_abnormal_digestive_organ	1.16689201
35	MP0005174_abnormal_tail_pigmentation	1.14784021
36	MP0010329_abnormal_lipoprotein_level	1.14224792
37	MP0004019_abnormal_vitamin_homeostasis	1.09139886
38	MP0001756_abnormal_urination	1.07785517
39	MP0000026_abnormal_inner_ear	1.07019038
40	MP0001293_anophthalmia	1.05481408
41	MP0005408_hypopigmentation	1.04254109
42	MP0002160_abnormal_reproductive_system	1.04092213
43	MP0005085_abnormal_gallbladder_physiolo	1.03844213
44	MP0002277_abnormal_respiratory_mucosa	1.03271840
45	MP0010094_abnormal_chromosome_stability	1.00404906
46	MP0005187_abnormal_penis_morphology	1.00176131
47	MP0005360_urolithiasis	0.99512131
48	MP0005503_abnormal_tendon_morphology	0.97571088
49	MP0000538_abnormal_urinary_bladder	0.95900307
50	MP0003942_abnormal_urinary_system	0.95611968
51	MP0002697_abnormal_eye_size	0.94460689
52	MP0000631_abnormal_neuroendocrine_gland	0.92466050
53	MP0005551_abnormal_eye_electrophysiolog	0.91779388
54	MP0000462_abnormal_digestive_system	0.91605504
55	MP0003937_abnormal_limbs/digits/tail_de	0.91363446
56	MP0003938_abnormal_ear_development	0.91305472
57	MP0002254_reproductive_system_inflammat	0.89808216
58	MP0000751_myopathy	0.88853660
59	MP0002132_abnormal_respiratory_system	0.88623934
60	MP0003123_paternal_imprinting	0.88081373
61	MP0001986_abnormal_taste_sensitivity	0.84607246
62	MP0003718_maternal_effect	0.84521398
63	MP0008872_abnormal_physiological_respon	0.84139111
64	MP0001661_extended_life_span	0.82185183
65	MP0003638_abnormal_response/metabolism_	0.81660030
66	MP0001984_abnormal_olfaction	0.81377341
67	MP0005410_abnormal_fertilization	0.80454588
68	MP0002184_abnormal_innervation	0.80277051
69	MP0001485_abnormal_pinna_reflex	0.80170358
70	MP0001346_abnormal_lacrimal_gland	0.78958581
71	MP0001186_pigmentation_phenotype	0.76982143
72	MP0005394_taste/olfaction_phenotype	0.75632808
73	MP0005499_abnormal_olfactory_system	0.75632808
74	MP0008007_abnormal_cellular_replicative	0.74432676
75	MP0001905_abnormal_dopamine_level	0.73776977
76	MP0002932_abnormal_joint_morphology	0.73289562
77	MP0000013_abnormal_adipose_tissue	0.73283522
78	MP0004924_abnormal_behavior	0.73186853
79	MP0005386_behavior/neurological_phenoty	0.73186853
80	MP0000647_abnormal_sebaceous_gland	0.72343494
81	MP0001664_abnormal_digestion	0.72332714
82	MP0001299_abnormal_eye_distance/	0.71750547
83	MP0003195_calcinosis	0.70872870
84	MP0000678_abnormal_parathyroid_gland	0.70298181
85	MP0000534_abnormal_ureter_morphology	0.70011674
86	MP0002118_abnormal_lipid_homeostasis	0.68390905
87	MP0000778_abnormal_nervous_system	0.68040383
88	MP0002075_abnormal_coat/hair_pigmentati	0.68002142
89	MP0008789_abnormal_olfactory_epithelium	0.67996538
90	MP0000003_abnormal_adipose_tissue	0.67777374
91	MP0001849_ear_inflammation	0.66586900
92	MP0005645_abnormal_hypothalamus_physiol	0.66424830
93	MP0000049_abnormal_middle_ear	0.66150247
94	MP0000467_abnormal_esophagus_morphology	0.65235702
95	MP0005330_cardiomyopathy	0.64315529
96	MP0002638_abnormal_pupillary_reflex	0.63521307
97	MP0001929_abnormal_gametogenesis	0.62985326
98	MP0003698_abnormal_male_reproductive	0.62904237
99	MP0001502_abnormal_circadian_rhythm	0.62710982
100	MP0001324_abnormal_eye_pigmentation	0.62655364

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Prolonged partial thromboplastin time (HP:0003645)	3.77196390
2	Partial duplication of thumb phalanx (HP:0009944)	3.49846861
3	Rib fusion (HP:0000902)	3.49305311
4	Testicular atrophy (HP:0000029)	3.35086863
5	Bronchomalacia (HP:0002780)	3.31147162
6	Partial duplication of the phalanx of hand (HP:0009999)	3.15613642
7	Vaginal fistula (HP:0004320)	3.05522485
8	Hyperglycinuria (HP:0003108)	3.02274344
9	Broad metatarsal (HP:0001783)	2.89860608
10	Rectovaginal fistula (HP:0000143)	2.87904703
11	Rectal fistula (HP:0100590)	2.87904703
12	Coronal craniosynostosis (HP:0004440)	2.77348951
13	Turricephaly (HP:0000262)	2.76388127
14	11 pairs of ribs (HP:0000878)	2.62655108
15	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.53789769
16	Intestinal fistula (HP:0100819)	2.46285244
17	Bilateral microphthalmos (HP:0007633)	2.42290219
18	Hydroxyprolinuria (HP:0003080)	2.38318128
19	Abnormality of proline metabolism (HP:0010907)	2.38318128
20	Abnormality of glycine metabolism (HP:0010895)	2.35126087
21	Abnormality of serine family amino acid metabolism (HP:0010894)	2.35126087
22	Increased hepatocellular lipid droplets (HP:0006565)	2.30240020
23	Hypoplasia of the capital femoral epiphysis (HP:0003090)	2.22328024
24	Chronic hepatic failure (HP:0100626)	2.20808247
25	Maternal diabetes (HP:0009800)	2.20185731
26	Abnormality of the phalanges of the hallux (HP:0010057)	2.20181646
27	Deep venous thrombosis (HP:0002625)	2.18054688
28	Reduced antithrombin III activity (HP:0001976)	2.16607004
29	Duplication of thumb phalanx (HP:0009942)	2.15691149
30	Abnormality of sulfur amino acid metabolism (HP:0004339)	2.13898357
31	Abnormality of methionine metabolism (HP:0010901)	2.13348992
32	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.12327563
33	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.12158668
34	Sex reversal (HP:0012245)	2.11955795
35	Abnormal sex determination (HP:0012244)	2.11955795
36	Molar tooth sign on MRI (HP:0002419)	2.11791098
37	Abnormality of midbrain morphology (HP:0002418)	2.11791098
38	Mesangial abnormality (HP:0001966)	2.09112244
39	True hermaphroditism (HP:0010459)	2.07556249
40	Abnormality of the intrinsic pathway (HP:0010989)	2.07133729
41	Preaxial foot polydactyly (HP:0001841)	2.06845175
42	Joint hemorrhage (HP:0005261)	2.06657389
43	Birth length less than 3rd percentile (HP:0003561)	2.06081138
44	Ulnar bowing (HP:0003031)	2.02394355
45	Abnormal urine phosphate concentration (HP:0012599)	2.02373706
46	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.02369728
47	Absent/shortened dynein arms (HP:0200106)	2.02369728
48	Neonatal short-limb short stature (HP:0008921)	2.01176160
49	Renal Fanconi syndrome (HP:0001994)	2.00736745
50	Lipid accumulation in hepatocytes (HP:0006561)	2.00672137
51	Facial hemangioma (HP:0000329)	1.99676423
52	Pheochromocytoma (HP:0002666)	1.98668683
53	Ketoacidosis (HP:0001993)	1.97153127
54	Down-sloping shoulders (HP:0200021)	1.96066655
55	Spontaneous abortion (HP:0005268)	1.94983477
56	Thin bony cortex (HP:0002753)	1.94677300
57	Aplasia involving bones of the extremities (HP:0009825)	1.94155644
58	Aplasia involving bones of the upper limbs (HP:0009823)	1.94155644
59	Aplasia of the phalanges of the hand (HP:0009802)	1.94155644
60	Abnormality of the distal phalanx of the thumb (HP:0009617)	1.94008211
61	Squamous cell carcinoma (HP:0002860)	1.92803678
62	Absent epiphyses (HP:0010577)	1.92459923
63	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.92459923
64	Respiratory distress (HP:0002098)	1.89319174
65	Attenuation of retinal blood vessels (HP:0007843)	1.88671418
66	Abnormality of the diencephalon (HP:0010662)	1.84931504
67	Bifid scrotum (HP:0000048)	1.82718209
68	Abnormal ciliary motility (HP:0012262)	1.78415512
69	Hypoplasia of the pons (HP:0012110)	1.77824705
70	Infertility (HP:0000789)	1.77548432
71	Akinesia (HP:0002304)	1.76708306
72	Tinnitus (HP:0000360)	1.74456850
73	Bifid tongue (HP:0010297)	1.74195378
74	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.74006190
75	Midline defect of the nose (HP:0004122)	1.73577009
76	Short chin (HP:0000331)	1.73434014
77	Choanal stenosis (HP:0000452)	1.73364381
78	Microretrognathia (HP:0000308)	1.73298870
79	Pendular nystagmus (HP:0012043)	1.72648652
80	Abnormal respiratory motile cilium physiology (HP:0012261)	1.70721611
81	Ketosis (HP:0001946)	1.69715955
82	Congenital, generalized hypertrichosis (HP:0004540)	1.69491461
83	Meningioma (HP:0002858)	1.68723620
84	Abnormal respiratory epithelium morphology (HP:0012253)	1.68714186
85	Abnormal respiratory motile cilium morphology (HP:0005938)	1.68714186
86	Neonatal onset (HP:0003623)	1.68590584
87	Abnormal number of incisors (HP:0011064)	1.68166523
88	Intrahepatic cholestasis (HP:0001406)	1.67694687
89	Patellar aplasia (HP:0006443)	1.66742691
90	Cystic liver disease (HP:0006706)	1.62479826
91	Infantile muscular hypotonia (HP:0008947)	1.62270904
92	Occipital encephalocele (HP:0002085)	1.62185483
93	Congenital stationary night blindness (HP:0007642)	1.61441298
94	Concave nail (HP:0001598)	1.60114788
95	Renal dysplasia (HP:0000110)	1.58337105
96	Broad face (HP:0000283)	1.57599891
97	Neuroendocrine neoplasm (HP:0100634)	1.57503582
98	Anophthalmia (HP:0000528)	1.56647817
99	Severe muscular hypotonia (HP:0006829)	1.55877258
100	Neoplasm of the heart (HP:0100544)	1.55668760

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	5.55378730
2	PNCK	3.80195212
3	EPHA2	2.87426010
4	WNK4	2.70541986
5	NME1	2.58326882
6	BUB1	2.54350375
7	PINK1	2.53315625
8	TRIB3	2.48999115
9	NTRK3	2.40175140
10	TSSK6	2.36293895
11	LATS2	2.36077072
12	TLK1	2.28630451
13	DYRK3	2.27491256
14	FGFR2	2.26714656
15	SIK1	2.15128859
16	NEK2	1.88279719
17	WEE1	1.82190272
18	PHKG1	1.78575483
19	PHKG2	1.78575483
20	TRIM28	1.70641766
21	MUSK	1.52854278
22	BCKDK	1.44075303
23	BRSK2	1.34577585
24	PLK4	1.31755387
25	NME2	1.23439913
26	PKN2	1.18770783
27	DYRK2	1.16986244
28	ERBB4	1.16834613
29	BRSK1	1.14020242
30	MAP2K6	1.11584524
31	SIK2	1.10780556
32	DYRK1B	1.07060844
33	MAP3K9	1.04531197
34	TTK	1.04166808
35	MET	1.03637134
36	STK39	0.98580800
37	IRAK3	0.95552998
38	MAP3K6	0.90100559
39	EEF2K	0.86968329
40	MAP2K7	0.86152054
41	ADRBK2	0.86050266
42	ICK	0.77243690
43	PTK2	0.75987315
44	PRKCI	0.75064480
45	ERBB2	0.74199186
46	STK16	0.72561400
47	GRK1	0.72114866
48	ZAK	0.71628492
49	CDK12	0.71232033
50	TYRO3	0.70956435
51	CDK3	0.68035845
52	FGFR1	0.66614631
53	PLK1	0.65548203
54	MAPKAPK5	0.65274437
55	MST4	0.64941015
56	TRPM7	0.64635536
57	ADRBK1	0.64301723
58	BMX	0.63407234
59	ARAF	0.62265590
60	UHMK1	0.61020474
61	CDK7	0.60750733
62	MARK1	0.59763966
63	CCNB1	0.59456722
64	MAPK13	0.58727988
65	CDK8	0.58326298
66	PTK6	0.58293174
67	MST1R	0.56174436
68	RPS6KA2	0.53912283
69	PBK	0.53560615
70	RPS6KA6	0.50269468
71	MAPKAPK3	0.49851445
72	DMPK	0.47260169
73	CAMK1G	0.46894506
74	MTOR	0.46786394
75	WNK1	0.46167724
76	FGFR4	0.45885137
77	AURKA	0.44658867
78	INSRR	0.44654906
79	CHEK2	0.43995982
80	AURKB	0.42579468
81	GRK6	0.42393653
82	MAP3K7	0.42009156
83	PRKCG	0.41878906
84	IRAK2	0.41536504
85	EPHA4	0.40840464
86	WNK3	0.40437340
87	DAPK2	0.39881735
88	KSR2	0.39853640
89	BRAF	0.38533842
90	VRK2	0.37418493
91	MARK2	0.36970761
92	PDPK1	0.36462469
93	CSNK1E	0.35351944
94	CAMK2D	0.33305767
95	MAP3K2	0.33055877
96	ILK	0.32875389
97	VRK1	0.32765290
98	PLK3	0.32741780
99	MINK1	0.32627728
100	RPS6KA5	0.31354137

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Sulfur relay system_Homo sapiens_hsa04122	2.94942905
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.83689094
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.63320338
4	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.47388539
5	Selenocompound metabolism_Homo sapiens_hsa00450	2.13733287
6	Tyrosine metabolism_Homo sapiens_hsa00350	2.03990481
7	Ribosome_Homo sapiens_hsa03010	1.89415328
8	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.89251249
9	Phenylalanine metabolism_Homo sapiens_hsa00360	1.88178417
10	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.67339675
11	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.67045796
12	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.66131459
13	Pyruvate metabolism_Homo sapiens_hsa00620	1.65214666
14	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.64103278
15	Caffeine metabolism_Homo sapiens_hsa00232	1.62572374
16	Chemical carcinogenesis_Homo sapiens_hsa05204	1.57991942
17	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.56154105
18	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.54969875
19	Oxidative phosphorylation_Homo sapiens_hsa00190	1.51024144
20	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.45530867
21	Basal cell carcinoma_Homo sapiens_hsa05217	1.45328833
22	Butanoate metabolism_Homo sapiens_hsa00650	1.43428592
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.41405073
24	Steroid biosynthesis_Homo sapiens_hsa00100	1.38646214
25	Histidine metabolism_Homo sapiens_hsa00340	1.38399163
26	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.36485858
27	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.35766440
28	Retinol metabolism_Homo sapiens_hsa00830	1.31141501
29	Linoleic acid metabolism_Homo sapiens_hsa00591	1.31131035
30	Arginine biosynthesis_Homo sapiens_hsa00220	1.31083786
31	Cocaine addiction_Homo sapiens_hsa05030	1.29734617
32	ABC transporters_Homo sapiens_hsa02010	1.29417394
33	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.27463195
34	Fatty acid degradation_Homo sapiens_hsa00071	1.22804339
35	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.22356483
36	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.21319041
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.19984546
38	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.19536750
39	Arginine and proline metabolism_Homo sapiens_hsa00330	1.15147904
40	Parkinsons disease_Homo sapiens_hsa05012	1.11103008
41	Huntingtons disease_Homo sapiens_hsa05016	1.08793180
42	Glutathione metabolism_Homo sapiens_hsa00480	1.06810824
43	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.06711108
44	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.03280064
45	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.02991370
46	One carbon pool by folate_Homo sapiens_hsa00670	1.02920363
47	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.01911143
48	Bile secretion_Homo sapiens_hsa04976	0.98345405
49	Mismatch repair_Homo sapiens_hsa03430	0.96953745
50	Homologous recombination_Homo sapiens_hsa03440	0.96296919
51	beta-Alanine metabolism_Homo sapiens_hsa00410	0.96112460
52	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.94504653
53	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.94101907
54	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.93740626
55	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.92647835
56	Complement and coagulation cascades_Homo sapiens_hsa04610	0.89358850
57	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.87190300
58	Cardiac muscle contraction_Homo sapiens_hsa04260	0.86434892
59	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.82505066
60	Fatty acid metabolism_Homo sapiens_hsa01212	0.80790880
61	Alzheimers disease_Homo sapiens_hsa05010	0.80314341
62	Fanconi anemia pathway_Homo sapiens_hsa03460	0.80106133
63	Fat digestion and absorption_Homo sapiens_hsa04975	0.79492167
64	Metabolic pathways_Homo sapiens_hsa01100	0.75431664
65	Taste transduction_Homo sapiens_hsa04742	0.73630073
66	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.73187695
67	Lysine degradation_Homo sapiens_hsa00310	0.72583124
68	Pyrimidine metabolism_Homo sapiens_hsa00240	0.68972494
69	PPAR signaling pathway_Homo sapiens_hsa03320	0.67816243
70	Peroxisome_Homo sapiens_hsa04146	0.67811208
71	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.66057004
72	Nucleotide excision repair_Homo sapiens_hsa03420	0.65288603
73	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.63189610
74	RNA polymerase_Homo sapiens_hsa03020	0.60499726
75	Melanogenesis_Homo sapiens_hsa04916	0.60266049
76	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.59201257
77	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.57876981
78	Propanoate metabolism_Homo sapiens_hsa00640	0.57769479
79	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.57435726
80	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.56035715
81	Hippo signaling pathway_Homo sapiens_hsa04390	0.54739770
82	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.53431710
83	Serotonergic synapse_Homo sapiens_hsa04726	0.53143728
84	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.51193313
85	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.51079152
86	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.50801561
87	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.50370017
88	Glutamatergic synapse_Homo sapiens_hsa04724	0.49879249
89	Insulin secretion_Homo sapiens_hsa04911	0.48873151
90	Amphetamine addiction_Homo sapiens_hsa05031	0.47413106
91	Purine metabolism_Homo sapiens_hsa00230	0.45281707
92	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.44054786
93	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.43944702
94	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.43509831
95	Sphingolipid metabolism_Homo sapiens_hsa00600	0.40988382
96	Circadian entrainment_Homo sapiens_hsa04713	0.40698215
97	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.40017361
98	Notch signaling pathway_Homo sapiens_hsa04330	0.39174138
99	Carbon metabolism_Homo sapiens_hsa01200	0.38475229
100	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.38298446

URAHP

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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