ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	retinal cone cell development (GO:0046549)	6.49833869
2	phosphorelay signal transduction system (GO:0000160)	5.91488466
3	piRNA metabolic process (GO:0034587)	5.67592558
4	negative regulation of cytosolic calcium ion concentration (GO:0051481)	5.28063325
5	neuronal action potential (GO:0019228)	5.23269834
6	lysine catabolic process (GO:0006554)	5.19133735
7	lysine metabolic process (GO:0006553)	5.19133735
8	histone H4-K12 acetylation (GO:0043983)	4.66462717
9	regulation of female gonad development (GO:2000194)	4.43220508
10	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	4.42973051
11	alkaloid metabolic process (GO:0009820)	4.39830211
12	nucleotide transmembrane transport (GO:1901679)	4.32830650
13	flavonoid metabolic process (GO:0009812)	4.32132788
14	negative regulation of complement activation (GO:0045916)	4.27187241
15	response to magnesium ion (GO:0032026)	4.26967501
16	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.03632566
17	regulation of short-term neuronal synaptic plasticity (GO:0048172)	3.96313416
18	regulation of cell maturation (GO:1903429)	3.85096716
19	phenylpropanoid metabolic process (GO:0009698)	3.82155599
20	behavioral response to ethanol (GO:0048149)	3.81700992
21	uronic acid metabolic process (GO:0006063)	3.77854739
22	glucuronate metabolic process (GO:0019585)	3.77854739
23	aspartate family amino acid catabolic process (GO:0009068)	3.77506554
24	amino-acid betaine metabolic process (GO:0006577)	3.77246519
25	heparin biosynthetic process (GO:0030210)	3.75991910
26	heparin metabolic process (GO:0030202)	3.75991910
27	phenol-containing compound catabolic process (GO:0019336)	3.75931518
28	positive regulation of gastrulation (GO:2000543)	3.75668035
29	negative regulation of protein activation cascade (GO:2000258)	3.73390914
30	rRNA methylation (GO:0031167)	3.65486751
31	vocalization behavior (GO:0071625)	3.63863430
32	cellular glucuronidation (GO:0052695)	3.63680850
33	limb development (GO:0060173)	3.58779583
34	appendage development (GO:0048736)	3.58779583
35	ATP synthesis coupled proton transport (GO:0015986)	3.54726165
36	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.54726165
37	L-methionine salvage (GO:0071267)	3.52467379
38	L-methionine biosynthetic process (GO:0071265)	3.52467379
39	amino acid salvage (GO:0043102)	3.52467379
40	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	3.48470141
41	behavioral response to nicotine (GO:0035095)	3.36201049
42	ionotropic glutamate receptor signaling pathway (GO:0035235)	3.33085814
43	protein localization to synapse (GO:0035418)	3.31991315
44	primary amino compound metabolic process (GO:1901160)	3.31274719
45	replicative senescence (GO:0090399)	3.28678209
46	response to folic acid (GO:0051593)	3.23593957
47	lipopolysaccharide biosynthetic process (GO:0009103)	3.23459989
48	pyrimidine dimer repair (GO:0006290)	3.22539506
49	membrane depolarization during action potential (GO:0086010)	3.20970039
50	xenobiotic catabolic process (GO:0042178)	3.20182499
51	chaperone-mediated protein complex assembly (GO:0051131)	3.19967721
52	positive regulation of fatty acid beta-oxidation (GO:0032000)	3.17891116
53	negative regulation of humoral immune response (GO:0002921)	3.17706472
54	myoblast fusion (GO:0007520)	3.17313035
55	response to acidic pH (GO:0010447)	3.16641555
56	rRNA modification (GO:0000154)	3.12514122
57	serotonin metabolic process (GO:0042428)	3.08614062
58	positive regulation of fatty acid transport (GO:2000193)	3.07428704
59	glutathione derivative biosynthetic process (GO:1901687)	3.06097066
60	glutathione derivative metabolic process (GO:1901685)	3.06097066
61	action potential (GO:0001508)	3.02650394
62	endoderm formation (GO:0001706)	2.97976663
63	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.95899163
64	proteasome assembly (GO:0043248)	2.94858914
65	multicellular organism reproduction (GO:0032504)	2.91923466
66	regulation of fever generation (GO:0031620)	2.90954285
67	synaptic transmission, cholinergic (GO:0007271)	2.89178744
68	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.88298089
69	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.87455842
70	DNA methylation involved in gamete generation (GO:0043046)	2.87165283
71	peripheral nervous system development (GO:0007422)	2.86869315
72	postsynaptic membrane organization (GO:0001941)	2.86680682
73	one-carbon metabolic process (GO:0006730)	2.86648842
74	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.86389927
75	sodium ion transmembrane transport (GO:0035725)	2.77692695
76	opioid receptor signaling pathway (GO:0038003)	2.77476015
77	sensory perception of smell (GO:0007608)	2.77453753
78	drug metabolic process (GO:0017144)	2.74069962
79	cellular ketone body metabolic process (GO:0046950)	2.73662682
80	positive regulation of megakaryocyte differentiation (GO:0045654)	2.72575794
81	lipopolysaccharide metabolic process (GO:0008653)	2.72296571
82	positive regulation of uterine smooth muscle contraction (GO:0070474)	2.72231153
83	methionine biosynthetic process (GO:0009086)	2.71946260
84	photoreceptor cell development (GO:0042461)	2.71669728
85	replication fork processing (GO:0031297)	2.71238732
86	ubiquinone biosynthetic process (GO:0006744)	2.70964706
87	regulation of catecholamine metabolic process (GO:0042069)	2.70482316
88	regulation of dopamine metabolic process (GO:0042053)	2.70482316
89	negative regulation of mast cell activation (GO:0033004)	2.70181313
90	positive regulation of fatty acid oxidation (GO:0046321)	2.67488116
91	coenzyme catabolic process (GO:0009109)	2.66762734
92	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.66326870
93	ADP metabolic process (GO:0046031)	2.65852359
94	magnesium ion transport (GO:0015693)	2.65831409
95	bundle of His cell to Purkinje myocyte communication (GO:0086069)	2.65818551
96	signal peptide processing (GO:0006465)	2.63425780
97	regulation of DNA methylation (GO:0044030)	2.63232968
98	regulation of establishment or maintenance of cell polarity (GO:0032878)	2.62289653
99	sensory perception of chemical stimulus (GO:0007606)	2.62211403
100	positive regulation of icosanoid secretion (GO:0032305)	2.61892643

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	7.13375807
2	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.41135941
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.49845681
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.03822139
5	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.78625823
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.47803613
7	VDR_22108803_ChIP-Seq_LS180_Human	2.47103696
8	FUS_26573619_Chip-Seq_HEK293_Human	2.31146240
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.26087537
10	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.15018700
11	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	2.15018700
12	PIAS1_25552417_ChIP-Seq_VCAP_Human	2.13260276
13	ZNF274_21170338_ChIP-Seq_K562_Hela	2.11138635
14	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.08825602
15	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.02287224
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.01434246
17	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.01194599
18	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.88995036
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.88781946
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.86140595
21	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.85774502
22	EWS_26573619_Chip-Seq_HEK293_Human	1.81204964
23	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.80591398
24	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.71404725
25	P300_19829295_ChIP-Seq_ESCs_Human	1.70638185
26	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.68902709
27	SMAD4_21799915_ChIP-Seq_A2780_Human	1.65345731
28	AR_21572438_ChIP-Seq_LNCaP_Human	1.63330863
29	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.62359929
30	TCF4_23295773_ChIP-Seq_U87_Human	1.60202818
31	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.59870287
32	STAT3_23295773_ChIP-Seq_U87_Human	1.58705019
33	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.58593523
34	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.58593523
35	TAF15_26573619_Chip-Seq_HEK293_Human	1.55802749
36	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.55491149
37	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.51506601
38	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.50501522
39	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.41832124
40	REST_21632747_ChIP-Seq_MESCs_Mouse	1.38791701
41	ER_23166858_ChIP-Seq_MCF-7_Human	1.36759555
42	TCF4_22108803_ChIP-Seq_LS180_Human	1.33524046
43	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.33227974
44	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.32950912
45	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.32735226
46	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.32164337
47	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.30736177
48	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.30126913
49	LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.29981200
50	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.24564737
51	SCL_19346495_ChIP-Seq_HPC-7_Human	1.24192677
52	RUNX2_22187159_ChIP-Seq_PCA_Human	1.21950019
53	AR_25329375_ChIP-Seq_VCAP_Human	1.21626473
54	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.21377352
55	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.20491826
56	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20118273
57	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13033045
58	TP53_22573176_ChIP-Seq_HFKS_Human	1.11238261
59	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.10398232
60	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.10128750
61	AR_20517297_ChIP-Seq_VCAP_Human	1.10067485
62	DROSHA_22980978_ChIP-Seq_HELA_Human	1.09919841
63	BCAT_22108803_ChIP-Seq_LS180_Human	1.09916234
64	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.09436238
65	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.09089957
66	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.08511808
67	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.08182585
68	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.07663247
69	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.07489487
70	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.06858995
71	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.05705756
72	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.03127862
73	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.03069293
74	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.02594701
75	TAF2_19829295_ChIP-Seq_ESCs_Human	1.02506824
76	P53_21459846_ChIP-Seq_SAOS-2_Human	1.01831828
77	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.00772846
78	NCOR_22424771_ChIP-Seq_293T_Human	1.00423190
79	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.97700138
80	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.97498178
81	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.96885245
82	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.95938111
83	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.95895139
84	RNF2_27304074_Chip-Seq_NSC_Mouse	0.95683902
85	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.95190100
86	MYC_19829295_ChIP-Seq_ESCs_Human	0.94819395
87	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.94018710
88	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.92750697
89	MYC_18940864_ChIP-ChIP_HL60_Human	0.91152477
90	NANOG_20526341_ChIP-Seq_ESCs_Human	0.90957951
91	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.90837805
92	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.90178029
93	CBP_20019798_ChIP-Seq_JUKART_Human	0.90178029
94	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.89153743
95	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.89048131
96	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.88482855
97	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.87193985
98	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.87112795
99	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.86522273
100	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.86464491

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001968_abnormal_touch/_nociception	4.66464981
2	MP0002638_abnormal_pupillary_reflex	4.64537443
3	MP0003011_delayed_dark_adaptation	3.74309453
4	MP0002736_abnormal_nociception_after	3.44022258
5	MP0003136_yellow_coat_color	3.24409271
6	MP0005646_abnormal_pituitary_gland	2.89738129
7	MP0003718_maternal_effect	2.76486150
8	MP0005423_abnormal_somatic_nervous	2.57621790
9	MP0005551_abnormal_eye_electrophysiolog	2.54455899
10	MP0002733_abnormal_thermal_nociception	2.31222628
11	MP0003880_abnormal_central_pattern	2.16787299
12	MP0005171_absent_coat_pigmentation	2.00202468
13	MP0001664_abnormal_digestion	1.98976831
14	MP0003646_muscle_fatigue	1.98357451
15	MP0002090_abnormal_vision	1.97570298
16	MP0005253_abnormal_eye_physiology	1.95544556
17	MP0000427_abnormal_hair_cycle	1.93892069
18	MP0008877_abnormal_DNA_methylation	1.91878283
19	MP0003890_abnormal_embryonic-extraembry	1.91629624
20	MP0002822_catalepsy	1.90946662
21	MP0002272_abnormal_nervous_system	1.85271653
22	MP0000579_abnormal_nail_morphology	1.79501110
23	MP0001502_abnormal_circadian_rhythm	1.79102538
24	MP0009745_abnormal_behavioral_response	1.79029268
25	MP0000372_irregular_coat_pigmentation	1.77982315
26	MP0009046_muscle_twitch	1.75055956
27	MP0002064_seizures	1.68320470
28	MP0002095_abnormal_skin_pigmentation	1.65117075
29	MP0001661_extended_life_span	1.63819709
30	MP0004043_abnormal_pH_regulation	1.63516068
31	MP0001486_abnormal_startle_reflex	1.57997194
32	MP0005645_abnormal_hypothalamus_physiol	1.51216066
33	MP0005085_abnormal_gallbladder_physiolo	1.49259660
34	MP0001970_abnormal_pain_threshold	1.48740630
35	MP0004270_analgesia	1.46524916
36	MP0000647_abnormal_sebaceous_gland	1.46177891
37	MP0008961_abnormal_basal_metabolism	1.41946542
38	MP0003633_abnormal_nervous_system	1.38410246
39	MP0003183_abnormal_peptide_metabolism	1.38095035
40	MP0002734_abnormal_mechanical_nocicepti	1.35857041
41	MP0008872_abnormal_physiological_respon	1.33753273
42	MP0002277_abnormal_respiratory_mucosa	1.33273046
43	MP0009379_abnormal_foot_pigmentation	1.29318196
44	MP0001764_abnormal_homeostasis	1.27894694
45	MP0003385_abnormal_body_wall	1.26279252
46	MP0002234_abnormal_pharynx_morphology	1.24228809
47	MP0003635_abnormal_synaptic_transmissio	1.23660775
48	MP0003631_nervous_system_phenotype	1.23615552
49	MP0002572_abnormal_emotion/affect_behav	1.22505833
50	MP0003959_abnormal_lean_body	1.21009514
51	MP0002735_abnormal_chemical_nociception	1.19978581
52	MP0009053_abnormal_anal_canal	1.18956737
53	MP0003632_abnormal_nervous_system	1.18697152
54	MP0004147_increased_porphyrin_level	1.18086695
55	MP0003693_abnormal_embryo_hatching	1.12867989
56	MP0008875_abnormal_xenobiotic_pharmacok	1.12443776
57	MP0009278_abnormal_bone_marrow	1.11698304
58	MP0002067_abnormal_sensory_capabilities	1.09211828
59	MP0003329_amyloid_beta_deposits	1.06003516
60	MP0001986_abnormal_taste_sensitivity	1.05004340
61	MP0005365_abnormal_bile_salt	1.04615279
62	MP0004145_abnormal_muscle_electrophysio	1.02827896
63	MP0003119_abnormal_digestive_system	1.00892137
64	MP0006292_abnormal_olfactory_placode	1.00525106
65	MP0000750_abnormal_muscle_regeneration	1.00494200
66	MP0001324_abnormal_eye_pigmentation	0.99805783
67	MP0008770_decreased_survivor_rate	0.99596950
68	MP0001929_abnormal_gametogenesis	0.99554596
69	MP0001485_abnormal_pinna_reflex	0.96956995
70	MP0010352_gastrointestinal_tract_polyps	0.94173863
71	MP0005395_other_phenotype	0.93392605
72	MP0004133_heterotaxia	0.92643543
73	MP0003806_abnormal_nucleotide_metabolis	0.91285419
74	MP0000538_abnormal_urinary_bladder	0.89492722
75	MP0005195_abnormal_posterior_eye	0.88983796
76	MP0002210_abnormal_sex_determination	0.88968489
77	MP0000569_abnormal_digit_pigmentation	0.88736250
78	MP0002089_abnormal_postnatal_growth/wei	0.86348633
79	MP0003698_abnormal_male_reproductive	0.85699584
80	MP0005386_behavior/neurological_phenoty	0.85063331
81	MP0004924_abnormal_behavior	0.85063331
82	MP0000383_abnormal_hair_follicle	0.82833474
83	MP0010329_abnormal_lipoprotein_level	0.82539707
84	MP0002751_abnormal_autonomic_nervous	0.81527792
85	MP0003195_calcinosis	0.80181327
86	MP0000230_abnormal_systemic_arterial	0.79693284
87	MP0005503_abnormal_tendon_morphology	0.78676080
88	MP0008789_abnormal_olfactory_epithelium	0.76004215
89	MP0002557_abnormal_social/conspecific_i	0.75649258
90	MP0005248_abnormal_Harderian_gland	0.75291573
91	MP0004019_abnormal_vitamin_homeostasis	0.75113689
92	MP0005391_vision/eye_phenotype	0.74517717
93	MP0002876_abnormal_thyroid_physiology	0.74361810
94	MP0008775_abnormal_heart_ventricle	0.74194363
95	MP0005367_renal/urinary_system_phenotyp	0.73849136
96	MP0000516_abnormal_urinary_system	0.73849136
97	MP0002138_abnormal_hepatobiliary_system	0.72024312
98	MP0001905_abnormal_dopamine_level	0.70920967
99	MP0008058_abnormal_DNA_repair	0.70599933
100	MP0005332_abnormal_amino_acid	0.70082074

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Slender build (HP:0001533)	4.56455444
2	Medial flaring of the eyebrow (HP:0010747)	4.20353010
3	Congenital, generalized hypertrichosis (HP:0004540)	3.86868002
4	Gait imbalance (HP:0002141)	3.84840533
5	Nephrogenic diabetes insipidus (HP:0009806)	3.62212777
6	Abnormality of binocular vision (HP:0011514)	3.51861231
7	Diplopia (HP:0000651)	3.51861231
8	Conjunctival telangiectasia (HP:0000524)	3.46804209
9	Congenital primary aphakia (HP:0007707)	3.40360881
10	Anterior segment dysgenesis (HP:0007700)	3.39013737
11	Status epilepticus (HP:0002133)	3.31482479
12	Pili torti (HP:0003777)	3.28502658
13	Progressive inability to walk (HP:0002505)	3.27363310
14	Pheochromocytoma (HP:0002666)	3.24869463
15	Type II lissencephaly (HP:0007260)	3.15395266
16	Abolished electroretinogram (ERG) (HP:0000550)	3.15049934
17	Prominent supraorbital ridges (HP:0000336)	3.03346050
18	Poor coordination (HP:0002370)	3.02707963
19	Abnormal finger flexion creases (HP:0006143)	3.01414074
20	Inability to walk (HP:0002540)	3.01358021
21	Pancreatic fibrosis (HP:0100732)	3.00780334
22	Gaze-evoked nystagmus (HP:0000640)	2.98085789
23	Absent phalangeal crease (HP:0006109)	2.93945131
24	Broad foot (HP:0001769)	2.91202707
25	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.87328682
26	Pancreatic cysts (HP:0001737)	2.82814885
27	Neuroendocrine neoplasm (HP:0100634)	2.77937719
28	Amblyopia (HP:0000646)	2.77255290
29	Retinal atrophy (HP:0001105)	2.76373335
30	Anhidrosis (HP:0000970)	2.75322839
31	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.68141516
32	Reticulocytopenia (HP:0001896)	2.58548440
33	3-Methylglutaconic aciduria (HP:0003535)	2.51550541
34	Neonatal respiratory distress (HP:0002643)	2.47236118
35	Ventricular fibrillation (HP:0001663)	2.45191532
36	Abnormal hair laboratory examination (HP:0003328)	2.42524457
37	Osteomalacia (HP:0002749)	2.41530965
38	Cerebellar dysplasia (HP:0007033)	2.41257670
39	Generalized myoclonic seizures (HP:0002123)	2.40637045
40	Lissencephaly (HP:0001339)	2.38100847
41	Attenuation of retinal blood vessels (HP:0007843)	2.37838211
42	Stomach cancer (HP:0012126)	2.36954200
43	True hermaphroditism (HP:0010459)	2.34770965
44	Generalized tonic-clonic seizures (HP:0002069)	2.32129701
45	Hyperventilation (HP:0002883)	2.32021703
46	Congenital stationary night blindness (HP:0007642)	2.31904930
47	Abnormal number of erythroid precursors (HP:0012131)	2.30956172
48	Thyroid-stimulating hormone excess (HP:0002925)	2.30099874
49	Bony spicule pigmentary retinopathy (HP:0007737)	2.28715284
50	Colon cancer (HP:0003003)	2.28460731
51	Abnormality of alanine metabolism (HP:0010916)	2.25645752
52	Hyperalaninemia (HP:0003348)	2.25645752
53	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.25645752
54	Abnormality of the anterior chamber (HP:0000593)	2.25632112
55	CNS hypomyelination (HP:0003429)	2.25230961
56	Large eyes (HP:0001090)	2.24605878
57	Methylmalonic acidemia (HP:0002912)	2.20751221
58	Genital tract atresia (HP:0001827)	2.20591332
59	Short 5th finger (HP:0009237)	2.20312534
60	Hemiparesis (HP:0001269)	2.18675430
61	Optic nerve hypoplasia (HP:0000609)	2.17941793
62	Focal seizures (HP:0007359)	2.16540107
63	Autoamputation (HP:0001218)	2.16034581
64	Vaginal atresia (HP:0000148)	2.11928131
65	Cerebral hypomyelination (HP:0006808)	2.08720928
66	Pendular nystagmus (HP:0012043)	2.07082320
67	Neoplasm of the adrenal cortex (HP:0100641)	2.06594568
68	Short tibia (HP:0005736)	2.04939120
69	Aplasia/Hypoplasia of the 5th finger (HP:0006262)	2.01129075
70	Abnormality of cells of the erythroid lineage (HP:0012130)	2.01107363
71	Coronal craniosynostosis (HP:0004440)	1.97816260
72	Follicular hyperkeratosis (HP:0007502)	1.97591380
73	Hyperglycinemia (HP:0002154)	1.94493280
74	Conjugated hyperbilirubinemia (HP:0002908)	1.93673102
75	Aplasia/Hypoplasia of the lens (HP:0008063)	1.92881412
76	Methylmalonic aciduria (HP:0012120)	1.89680668
77	Increased number of teeth (HP:0011069)	1.89237131
78	Tubular atrophy (HP:0000092)	1.88639340
79	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.88325174
80	Hypoplasia of the fovea (HP:0007750)	1.88325174
81	Sclerocornea (HP:0000647)	1.87843262
82	Spontaneous abortion (HP:0005268)	1.87830508
83	Clumsiness (HP:0002312)	1.86717606
84	Keratoconus (HP:0000563)	1.85895905
85	Increased corneal curvature (HP:0100692)	1.85895905
86	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.79864483
87	Supernumerary spleens (HP:0009799)	1.79622229
88	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.79295841
89	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.77664005
90	Left ventricular hypertrophy (HP:0001712)	1.74537006
91	Dental crowding (HP:0000678)	1.73408077
92	Furrowed tongue (HP:0000221)	1.72678123
93	Congenital hepatic fibrosis (HP:0002612)	1.72527958
94	Congenital sensorineural hearing impairment (HP:0008527)	1.71655737
95	Abnormality of DNA repair (HP:0003254)	1.71324342
96	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.69338154
97	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.69050831
98	Mucosal telangiectasiae (HP:0100579)	1.67349108
99	Optic disc pallor (HP:0000543)	1.64392351
100	Hepatic necrosis (HP:0002605)	1.63876248

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK24	4.51330496
2	FRK	4.22131478
3	PDK2	3.51716595
4	ADRBK2	3.38697364
5	ZAK	3.26806929
6	MAPKAPK5	2.77867087
7	MKNK1	2.62674731
8	STK3	2.53599422
9	TAOK3	2.46573720
10	TLK1	2.33860517
11	MAP4K2	2.08603306
12	MAPK13	1.83668349
13	BMPR1B	1.81950018
14	ADRBK1	1.81193150
15	MAPKAPK3	1.74394765
16	MAP3K13	1.69833197
17	MARK1	1.67024695
18	INSRR	1.65947640
19	STK38L	1.65516431
20	CHUK	1.64354097
21	MST1R	1.49642445
22	NUAK1	1.49546493
23	PHKG1	1.25548504
24	PHKG2	1.25548504
25	MELK	1.22114074
26	VRK2	1.21226412
27	MKNK2	1.21105739
28	PRKCG	1.19121629
29	TTK	1.17647002
30	PINK1	1.16749712
31	CHEK2	1.15769098
32	DAPK1	1.13345720
33	GRK1	1.12781747
34	DYRK1A	1.12278953
35	CDC7	1.11215468
36	STK11	1.04120554
37	DYRK2	1.03105121
38	PTK2B	1.01959729
39	IRAK1	1.01804152
40	WNK4	1.00100995
41	OXSR1	0.97971719
42	PKN1	0.94023206
43	MAP2K2	0.92150830
44	PAK3	0.91893381
45	NEK2	0.89878292
46	DAPK2	0.85559121
47	NME1	0.83717237
48	NME2	0.81260764
49	PRKCE	0.76556122
50	PLK1	0.73718739
51	MET	0.73595421
52	ACVR1B	0.71616948
53	RPS6KA5	0.70592665
54	CCNB1	0.70549090
55	TAF1	0.68033900
56	PLK4	0.66826835
57	CAMK2A	0.66299562
58	MATK	0.64884204
59	CDK3	0.62933712
60	PRKAA2	0.62550668
61	NTRK1	0.60031781
62	GRK5	0.55887859
63	NLK	0.53999186
64	EPHB2	0.53489389
65	TRPM7	0.53161355
66	CASK	0.52834803
67	EEF2K	0.52656333
68	PNCK	0.52400900
69	ABL2	0.51827440
70	PRKCI	0.51714062
71	PLK3	0.48837987
72	NTRK2	0.46004405
73	PBK	0.45884534
74	IKBKB	0.42478561
75	PRKAA1	0.41607381
76	PRKACA	0.40648833
77	CDK7	0.40142126
78	NTRK3	0.39981503
79	PRKACG	0.39608169
80	CLK1	0.38901656
81	TEC	0.37941685
82	CSNK1D	0.37191547
83	CDK19	0.36987470
84	CSNK1G2	0.36767578
85	TGFBR1	0.36523868
86	PRKCA	0.35044781
87	VRK1	0.34289663
88	PRKACB	0.34068460
89	CSNK1G1	0.33449281
90	NEK6	0.33045272
91	PRKCZ	0.32741709
92	PLK2	0.31534149
93	CSNK1E	0.30597427
94	CSNK1A1	0.29947712
95	CAMK1	0.29468941
96	FGR	0.29430824
97	EIF2AK2	0.29156080
98	STK16	0.28726272
99	PRKCH	0.28423444
100	IGF1R	0.26419808

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	3.63792521
2	One carbon pool by folate_Homo sapiens_hsa00670	2.96829534
3	Histidine metabolism_Homo sapiens_hsa00340	2.69804135
4	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.59992269
5	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.36916415
6	Nicotine addiction_Homo sapiens_hsa05033	2.36826311
7	Linoleic acid metabolism_Homo sapiens_hsa00591	2.12748561
8	Chemical carcinogenesis_Homo sapiens_hsa05204	2.12709299
9	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.08478553
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.03354533
11	Olfactory transduction_Homo sapiens_hsa04740	2.02340668
12	Glycerolipid metabolism_Homo sapiens_hsa00561	1.99843711
13	Oxidative phosphorylation_Homo sapiens_hsa00190	1.97241868
14	ABC transporters_Homo sapiens_hsa02010	1.96773931
15	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.96414041
16	Taste transduction_Homo sapiens_hsa04742	1.93649138
17	Nitrogen metabolism_Homo sapiens_hsa00910	1.91410922
18	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.75288693
19	Asthma_Homo sapiens_hsa05310	1.71234492
20	Long-term depression_Homo sapiens_hsa04730	1.68383559
21	Retinol metabolism_Homo sapiens_hsa00830	1.62210823
22	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.61602452
23	Parkinsons disease_Homo sapiens_hsa05012	1.59029702
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.51160565
25	Homologous recombination_Homo sapiens_hsa03440	1.49471850
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.42858109
27	Alzheimers disease_Homo sapiens_hsa05010	1.40848164
28	Selenocompound metabolism_Homo sapiens_hsa00450	1.40819944
29	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.40775016
30	beta-Alanine metabolism_Homo sapiens_hsa00410	1.38220593
31	Fanconi anemia pathway_Homo sapiens_hsa03460	1.38218600
32	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.32227867
33	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.31895947
34	Arginine and proline metabolism_Homo sapiens_hsa00330	1.27885617
35	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.23691401
36	Peroxisome_Homo sapiens_hsa04146	1.22785030
37	Cardiac muscle contraction_Homo sapiens_hsa04260	1.18869585
38	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.17896312
39	Glutamatergic synapse_Homo sapiens_hsa04724	1.17196633
40	Huntingtons disease_Homo sapiens_hsa05016	1.16140937
41	Ribosome_Homo sapiens_hsa03010	1.14263927
42	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.12076715
43	Phototransduction_Homo sapiens_hsa04744	1.10922291
44	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.09400098
45	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.08365386
46	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.04496088
47	Mineral absorption_Homo sapiens_hsa04978	1.01289878
48	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.95946686
49	Caffeine metabolism_Homo sapiens_hsa00232	0.95824248
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.95398257
51	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.94203706
52	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.94105682
53	Sulfur metabolism_Homo sapiens_hsa00920	0.93251428
54	Glutathione metabolism_Homo sapiens_hsa00480	0.91914942
55	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.90850993
56	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.90682543
57	Lysine degradation_Homo sapiens_hsa00310	0.90663589
58	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.87427486
59	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.84479047
60	Circadian entrainment_Homo sapiens_hsa04713	0.83405912
61	Salivary secretion_Homo sapiens_hsa04970	0.83263445
62	Fatty acid elongation_Homo sapiens_hsa00062	0.82496910
63	Butanoate metabolism_Homo sapiens_hsa00650	0.80897420
64	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.80305530
65	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.79362917
66	Amphetamine addiction_Homo sapiens_hsa05031	0.75251127
67	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.75201635
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.68084496
69	RNA polymerase_Homo sapiens_hsa03020	0.65442439
70	Bile secretion_Homo sapiens_hsa04976	0.65078760
71	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.64772076
72	Proteasome_Homo sapiens_hsa03050	0.59442518
73	Metabolic pathways_Homo sapiens_hsa01100	0.58482631
74	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.58172914
75	Propanoate metabolism_Homo sapiens_hsa00640	0.54667258
76	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.54162949
77	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.53991172
78	Pyruvate metabolism_Homo sapiens_hsa00620	0.53278166
79	Serotonergic synapse_Homo sapiens_hsa04726	0.51923077
80	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.51682578
81	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.50847700
82	Graft-versus-host disease_Homo sapiens_hsa05332	0.50724354
83	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.50176110
84	Mismatch repair_Homo sapiens_hsa03430	0.49807240
85	Nucleotide excision repair_Homo sapiens_hsa03420	0.49636309
86	Allograft rejection_Homo sapiens_hsa05330	0.49501648
87	Phenylalanine metabolism_Homo sapiens_hsa00360	0.48254863
88	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.47675020
89	Fat digestion and absorption_Homo sapiens_hsa04975	0.46531255
90	Tyrosine metabolism_Homo sapiens_hsa00350	0.43769758
91	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.43326861
92	Insulin secretion_Homo sapiens_hsa04911	0.42477357
93	Circadian rhythm_Homo sapiens_hsa04710	0.41986549
94	Calcium signaling pathway_Homo sapiens_hsa04020	0.39387076
95	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.39357363
96	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.38749136
97	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.36005041
98	Morphine addiction_Homo sapiens_hsa05032	0.35992792
99	Gastric acid secretion_Homo sapiens_hsa04971	0.35164158
100	Dopaminergic synapse_Homo sapiens_hsa04728	0.35102541

FAHD2P1

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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