ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of digestive system process (GO:0060456)	7.26949825
2	mesenchymal cell differentiation involved in kidney development (GO:0072161)	5.99045309
3	mesenchymal cell differentiation involved in renal system development (GO:2001012)	5.99045309
4	negative regulation of cytosolic calcium ion concentration (GO:0051481)	5.43144838
5	cellular response to ATP (GO:0071318)	4.94582666
6	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	4.83349860
7	sphingosine metabolic process (GO:0006670)	4.74674631
8	positive regulation of cAMP-mediated signaling (GO:0043950)	4.71043337
9	opioid receptor signaling pathway (GO:0038003)	4.59986821
10	negative regulation of systemic arterial blood pressure (GO:0003085)	4.55153897
11	flavonoid metabolic process (GO:0009812)	4.32582381
12	diol metabolic process (GO:0034311)	4.21303111
13	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	4.20014224
14	behavioral response to nicotine (GO:0035095)	4.15633974
15	response to histamine (GO:0034776)	4.12481456
16	gamma-aminobutyric acid signaling pathway (GO:0007214)	4.11406396
17	negative regulation of cAMP-mediated signaling (GO:0043951)	4.10910964
18	protein localization to synapse (GO:0035418)	3.98893255
19	adaptation of signaling pathway (GO:0023058)	3.98139138
20	sphingoid metabolic process (GO:0046519)	3.94953451
21	negative regulation of smooth muscle cell differentiation (GO:0051151)	3.92286944
22	adult feeding behavior (GO:0008343)	3.88325341
23	detection of light stimulus involved in visual perception (GO:0050908)	3.83788818
24	detection of light stimulus involved in sensory perception (GO:0050962)	3.83788818
25	cilium or flagellum-dependent cell motility (GO:0001539)	3.81578184
26	hindbrain development (GO:0030902)	3.80029173
27	cellular response to ammonium ion (GO:0071242)	3.79768414
28	cochlea development (GO:0090102)	3.71561897
29	cell differentiation involved in metanephros development (GO:0072202)	3.67189228
30	behavioral response to ethanol (GO:0048149)	3.65558260
31	piRNA metabolic process (GO:0034587)	3.65485700
32	serotonin metabolic process (GO:0042428)	3.55821465
33	regulation of protein glycosylation (GO:0060049)	3.54248673
34	regulation of cAMP-mediated signaling (GO:0043949)	3.44450479
35	adrenergic receptor signaling pathway (GO:0071875)	3.40640129
36	protein-chromophore linkage (GO:0018298)	3.39155328
37	inner ear receptor cell development (GO:0060119)	3.37381551
38	response to pheromone (GO:0019236)	3.37307201
39	DNA methylation involved in gamete generation (GO:0043046)	3.35467000
40	uterus development (GO:0060065)	3.33143627
41	primary amino compound metabolic process (GO:1901160)	3.31505621
42	postsynaptic membrane organization (GO:0001941)	3.30780266
43	positive regulation of glomerulus development (GO:0090193)	3.27661320
44	coenzyme catabolic process (GO:0009109)	3.22789905
45	regulation of translational termination (GO:0006449)	3.18226592
46	auditory receptor cell stereocilium organization (GO:0060088)	3.17195102
47	regulation of rhodopsin mediated signaling pathway (GO:0022400)	3.17128724
48	regulation of digestive system process (GO:0044058)	3.16352720
49	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	3.10652478
50	mesenchymal to epithelial transition (GO:0060231)	3.09891412
51	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.09031102
52	regulation of triglyceride catabolic process (GO:0010896)	3.05740506
53	regulation of acrosome reaction (GO:0060046)	3.01012104
54	rhodopsin mediated signaling pathway (GO:0016056)	3.00931165
55	positive regulation of fatty acid oxidation (GO:0046321)	3.00168715
56	inner ear receptor stereocilium organization (GO:0060122)	3.00076595
57	neuronal action potential (GO:0019228)	2.99558010
58	neuronal action potential propagation (GO:0019227)	2.98351223
59	innervation (GO:0060384)	2.97420663
60	positive regulation of inositol phosphate biosynthetic process (GO:0060732)	2.94984098
61	regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	2.94882900
62	cornea development in camera-type eye (GO:0061303)	2.93211291
63	cellular response to alkaloid (GO:0071312)	2.89070716
64	protein K6-linked ubiquitination (GO:0085020)	2.88829402
65	metanephric mesenchyme development (GO:0072075)	2.88311392
66	cAMP catabolic process (GO:0006198)	2.86798917
67	proline transport (GO:0015824)	2.85287244
68	metanephric tubule development (GO:0072170)	2.84901369
69	metanephric nephron tubule development (GO:0072234)	2.84901369
70	detection of mechanical stimulus involved in sensory perception (GO:0050974)	2.84463642
71	axonemal dynein complex assembly (GO:0070286)	2.80762665
72	ether lipid metabolic process (GO:0046485)	2.79968604
73	adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)	2.76690650
74	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.76684098
75	sperm capacitation (GO:0048240)	2.74423547
76	regulation of germinal center formation (GO:0002634)	2.73114165
77	L-methionine salvage (GO:0071267)	2.69685894
78	L-methionine biosynthetic process (GO:0071265)	2.69685894
79	amino acid salvage (GO:0043102)	2.69685894
80	membrane depolarization during action potential (GO:0086010)	2.69366795
81	negative regulation of macrophage differentiation (GO:0045650)	2.69232514
82	indole-containing compound metabolic process (GO:0042430)	2.68748228
83	NAD biosynthetic process (GO:0009435)	2.67753271
84	nicotinamide nucleotide biosynthetic process (GO:0019359)	2.64748895
85	pyridine nucleotide biosynthetic process (GO:0019363)	2.64748895
86	T-helper cell differentiation (GO:0042093)	2.63829588
87	CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)	2.63829588
88	cyclic nucleotide catabolic process (GO:0009214)	2.61007233
89	positive regulation of interferon-gamma biosynthetic process (GO:0045078)	2.57825772
90	regulation of glutamate receptor signaling pathway (GO:1900449)	2.56489072
91	negative regulation of multicellular organism growth (GO:0040015)	2.54327806
92	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.52780194
93	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.52771234
94	metanephric nephron epithelium development (GO:0072243)	2.50048246
95	startle response (GO:0001964)	2.49297039
96	phenylpropanoid metabolic process (GO:0009698)	2.48786946
97	glycerophospholipid catabolic process (GO:0046475)	2.48431089
98	chemosensory behavior (GO:0007635)	2.47851824
99	metanephric epithelium development (GO:0072207)	2.47369294
100	tachykinin receptor signaling pathway (GO:0007217)	10.2308064

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.54514574
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.96752227
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.89669479
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.88410137
5	VDR_22108803_ChIP-Seq_LS180_Human	2.87796210
6	GBX2_23144817_ChIP-Seq_PC3_Human	2.81480535
7	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.75514652
8	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.30182101
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.21197854
10	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.06907423
11	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.01631981
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.00947944
13	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.93325070
14	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.84273861
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.81885023
16	CBP_20019798_ChIP-Seq_JUKART_Human	1.77581525
17	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.77581525
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.74629147
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.72871091
20	BCAT_22108803_ChIP-Seq_LS180_Human	1.72096525
21	REST_21632747_ChIP-Seq_MESCs_Mouse	1.66472273
22	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.66181852
23	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.65780513
24	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.65458806
25	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.65458806
26	RNF2_27304074_Chip-Seq_NSC_Mouse	1.65220905
27	ZNF274_21170338_ChIP-Seq_K562_Hela	1.63098768
28	TCF4_23295773_ChIP-Seq_U87_Human	1.59860096
29	STAT3_23295773_ChIP-Seq_U87_Human	1.57187163
30	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.56746049
31	RXR_22108803_ChIP-Seq_LS180_Human	1.54493197
32	P300_19829295_ChIP-Seq_ESCs_Human	1.53073797
33	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.49197585
34	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.48620214
35	EGR1_19032775_ChIP-ChIP_M12_Human	1.44626207
36	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.43453539
37	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.43298731
38	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.39739614
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.39400045
40	SMAD4_21799915_ChIP-Seq_A2780_Human	1.36697958
41	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.36217465
42	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.36112047
43	AR_21572438_ChIP-Seq_LNCaP_Human	1.35574322
44	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.31140405
45	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.30332351
46	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.29793974
47	IGF1R_20145208_ChIP-Seq_DFB_Human	1.29209584
48	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.28838278
49	DROSHA_22980978_ChIP-Seq_HELA_Human	1.27145037
50	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.27046852
51	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.26148389
52	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.25462876
53	TCF4_22108803_ChIP-Seq_LS180_Human	1.25425097
54	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.24793047
55	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21338901
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21028095
57	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21028095
58	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.19765977
59	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.19384621
60	KDM2B_26808549_Chip-Seq_REH_Human	1.19230925
61	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.17562350
62	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.17037671
63	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.15300160
64	NCOR_22424771_ChIP-Seq_293T_Human	1.15264496
65	AR_25329375_ChIP-Seq_VCAP_Human	1.15118971
66	RUNX2_22187159_ChIP-Seq_PCA_Human	1.14205906
67	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.14107444
68	FUS_26573619_Chip-Seq_HEK293_Human	1.13929462
69	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.13149891
70	ERA_21632823_ChIP-Seq_H3396_Human	1.13035880
71	HOXB7_26014856_ChIP-Seq_BT474_Human	1.12418553
72	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12221953
73	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	1.12211944
74	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.11930789
75	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.11847340
76	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.11617591
77	TP53_22573176_ChIP-Seq_HFKS_Human	1.10290679
78	RAC3_21632823_ChIP-Seq_H3396_Human	1.08021171
79	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.07173606
80	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.07066052
81	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.06969947
82	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06337917
83	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.05885503
84	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.05554633
85	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.04638293
86	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.03582480
87	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.02575264
88	EWS_26573619_Chip-Seq_HEK293_Human	1.02367328
89	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.02246627
90	TP53_16413492_ChIP-PET_HCT116_Human	1.01694139
91	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01600642
92	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.00598837
93	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.99932716
94	NANOG_20526341_ChIP-Seq_ESCs_Human	0.99222088
95	AHR_22903824_ChIP-Seq_MCF-7_Human	0.98454217
96	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.97846145
97	AR_19668381_ChIP-Seq_PC3_Human	0.96973139
98	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.96374559
99	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.95936853
100	CDX2_22108803_ChIP-Seq_LS180_Human	0.95646341

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	4.80790019
2	MP0001968_abnormal_touch/_nociception	3.36425413
3	MP0001501_abnormal_sleep_pattern	3.04493426
4	MP0000569_abnormal_digit_pigmentation	2.99974794
5	MP0005646_abnormal_pituitary_gland	2.87256617
6	MP0002638_abnormal_pupillary_reflex	2.78526874
7	MP0005551_abnormal_eye_electrophysiolog	2.63699349
8	MP0005360_urolithiasis	2.49633827
9	MP0002735_abnormal_chemical_nociception	2.37772284
10	MP0003646_muscle_fatigue	2.31829576
11	MP0002876_abnormal_thyroid_physiology	2.18581003
12	MP0005171_absent_coat_pigmentation	2.16630950
13	MP0001986_abnormal_taste_sensitivity	2.15647359
14	MP0001324_abnormal_eye_pigmentation	2.00805141
15	MP0001664_abnormal_digestion	1.97778952
16	MP0008872_abnormal_physiological_respon	1.97672879
17	MP0009780_abnormal_chondrocyte_physiolo	1.94681951
18	MP0000372_irregular_coat_pigmentation	1.94344333
19	MP0004381_abnormal_hair_follicle	1.92477844
20	MP0005075_abnormal_melanosome_morpholog	1.87132379
21	MP0002733_abnormal_thermal_nociception	1.85991642
22	MP0006276_abnormal_autonomic_nervous	1.85836573
23	MP0003136_yellow_coat_color	1.84840512
24	MP0002272_abnormal_nervous_system	1.84539035
25	MP0000015_abnormal_ear_pigmentation	1.79728519
26	MP0009745_abnormal_behavioral_response	1.77446302
27	MP0005174_abnormal_tail_pigmentation	1.76377066
28	MP0009046_muscle_twitch	1.66113292
29	MP0004742_abnormal_vestibular_system	1.64108212
30	MP0003879_abnormal_hair_cell	1.62026959
31	MP0001970_abnormal_pain_threshold	1.59914319
32	MP0005670_abnormal_white_adipose	1.55949994
33	MP0003868_abnormal_feces_composition	1.54985498
34	MP0003635_abnormal_synaptic_transmissio	1.52487526
35	MP0002557_abnormal_social/conspecific_i	1.39120106
36	MP0001440_abnormal_grooming_behavior	1.38435140
37	MP0002909_abnormal_adrenal_gland	1.36652124
38	MP0001486_abnormal_startle_reflex	1.35266889
39	MP0003943_abnormal_hepatobiliary_system	1.34665944
40	MP0002837_dystrophic_cardiac_calcinosis	1.32792287
41	MP0006072_abnormal_retinal_apoptosis	1.32443898
42	MP0002090_abnormal_vision	1.31039120
43	MP0002229_neurodegeneration	1.30436520
44	MP0005645_abnormal_hypothalamus_physiol	1.30147370
45	MP0005389_reproductive_system_phenotype	1.29889686
46	MP0002734_abnormal_mechanical_nocicepti	1.29222676
47	MP0004270_analgesia	1.27123238
48	MP0005187_abnormal_penis_morphology	1.24848950
49	MP0005220_abnormal_exocrine_pancreas	1.24084188
50	MP0004043_abnormal_pH_regulation	1.23578362
51	MP0001919_abnormal_reproductive_system	1.22925996
52	MP0001963_abnormal_hearing_physiology	1.22610889
53	MP0009840_abnormal_foam_cell	1.21086332
54	MP0000427_abnormal_hair_cycle	1.19280813
55	MP0010386_abnormal_urinary_bladder	1.18594020
56	MP0004133_heterotaxia	1.18324523
57	MP0002067_abnormal_sensory_capabilities	1.17490899
58	MP0003718_maternal_effect	1.17402794
59	MP0000534_abnormal_ureter_morphology	1.17216635
60	MP0002751_abnormal_autonomic_nervous	1.17110829
61	MP0005253_abnormal_eye_physiology	1.14567636
62	MP0003942_abnormal_urinary_system	1.13421312
63	MP0001485_abnormal_pinna_reflex	1.11964654
64	MP0000026_abnormal_inner_ear	1.11745793
65	MP0002160_abnormal_reproductive_system	1.11445140
66	MP0002063_abnormal_learning/memory/cond	1.08847275
67	MP0003866_abnormal_defecation	1.07949361
68	MP0002064_seizures	1.06069475
69	MP0003633_abnormal_nervous_system	1.03673817
70	MP0003315_abnormal_perineum_morphology	1.02407187
71	MP0002184_abnormal_innervation	1.02401923
72	MP0000678_abnormal_parathyroid_gland	1.01818669
73	MP0002572_abnormal_emotion/affect_behav	1.01320774
74	MP0004484_altered_response_of	0.99511010
75	MP0010329_abnormal_lipoprotein_level	0.99320231
76	MP0002168_other_aberrant_phenotype	0.98545459
77	MP0003938_abnormal_ear_development	0.97580403
78	MP0005647_abnormal_sex_gland	0.94409249
79	MP0004885_abnormal_endolymph	0.93315285
80	MP0005395_other_phenotype	0.92309142
81	MP0003045_fibrosis	0.91634846
82	MP0002693_abnormal_pancreas_physiology	0.89895903
83	MP0001765_abnormal_ion_homeostasis	0.89773702
84	MP0004145_abnormal_muscle_electrophysio	0.87063841
85	MP0002752_abnormal_somatic_nervous	0.86829655
86	MP0000230_abnormal_systemic_arterial	0.85856430
87	MP0001666_abnormal_nutrient_absorption	0.85060313
88	MP0004142_abnormal_muscle_tone	0.84288556
89	MP0002938_white_spotting	0.84111596
90	MP0000604_amyloidosis	0.80382519
91	MP0005310_abnormal_salivary_gland	0.79934723
92	MP0001661_extended_life_span	0.78851617
93	MP0009764_decreased_sensitivity_to	0.77442519
94	MP0005334_abnormal_fat_pad	0.77033029
95	MP0005636_abnormal_mineral_homeostasis	0.76906674
96	MP0005195_abnormal_posterior_eye	0.76024911
97	MP0002095_abnormal_skin_pigmentation	0.75191530
98	MP0005386_behavior/neurological_phenoty	0.74492307
99	MP0004924_abnormal_behavior	0.74492307
100	MP0003631_nervous_system_phenotype	0.73382747

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of macular pigmentation (HP:0008002)	6.94001570
2	Congenital stationary night blindness (HP:0007642)	4.37221708
3	Thyroid-stimulating hormone excess (HP:0002925)	4.25327892
4	Parakeratosis (HP:0001036)	4.12565426
5	Focal motor seizures (HP:0011153)	3.81293328
6	Decreased central vision (HP:0007663)	3.73169932
7	Congenital sensorineural hearing impairment (HP:0008527)	3.70601931
8	Chronic otitis media (HP:0000389)	3.63651768
9	Attenuation of retinal blood vessels (HP:0007843)	3.62282843
10	Abnormal respiratory epithelium morphology (HP:0012253)	3.37594307
11	Abnormal respiratory motile cilium morphology (HP:0005938)	3.37594307
12	Acanthocytosis (HP:0001927)	3.30773107
13	Recurrent sinusitis (HP:0011108)	3.19876604
14	Abnormal rod and cone electroretinograms (HP:0008323)	3.19112285
15	Hypomagnesemia (HP:0002917)	3.18202182
16	Broad-based gait (HP:0002136)	3.14487749
17	Dialeptic seizures (HP:0011146)	3.13713617
18	Volvulus (HP:0002580)	2.91750744
19	Congenital ichthyosiform erythroderma (HP:0007431)	2.79330157
20	Osteomalacia (HP:0002749)	2.78777263
21	Focal seizures (HP:0007359)	2.74691740
22	Episodic fever (HP:0001954)	2.72670694
23	Severe visual impairment (HP:0001141)	2.72585669
24	Chronic sinusitis (HP:0011109)	2.68201561
25	Progressive inability to walk (HP:0002505)	2.64564944
26	Hypoplasia of the fovea (HP:0007750)	2.64518234
27	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.64518234
28	Oligodontia (HP:0000677)	2.62149203
29	Pendular nystagmus (HP:0012043)	2.61335455
30	Hypophosphatemic rickets (HP:0004912)	2.61092283
31	Hyperventilation (HP:0002883)	2.60935810
32	Central scotoma (HP:0000603)	2.55290583
33	Amelogenesis imperfecta (HP:0000705)	2.55226351
34	Intestinal atresia (HP:0011100)	2.54622179
35	Choroideremia (HP:0001139)	2.53818437
36	Macular degeneration (HP:0000608)	2.52212127
37	Arthropathy (HP:0003040)	2.51871080
38	Protruding tongue (HP:0010808)	2.48753744
39	Molar tooth sign on MRI (HP:0002419)	2.44598343
40	Abnormality of midbrain morphology (HP:0002418)	2.44598343
41	Pancreatic cysts (HP:0001737)	2.43715945
42	Abnormality of the fovea (HP:0000493)	2.43392330
43	Clumsiness (HP:0002312)	2.42690932
44	Large for gestational age (HP:0001520)	2.41505003
45	Poikiloderma (HP:0001029)	2.39931730
46	Gaze-evoked nystagmus (HP:0000640)	2.36599086
47	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	2.35101801
48	Pigmentary retinal degeneration (HP:0001146)	2.34865253
49	Gonadotropin excess (HP:0000837)	2.33235381
50	Abnormality of magnesium homeostasis (HP:0004921)	2.32028101
51	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.26699074
52	Bony spicule pigmentary retinopathy (HP:0007737)	2.25024576
53	Drooling (HP:0002307)	2.20213693
54	Cerebellar dysplasia (HP:0007033)	2.19204688
55	True hermaphroditism (HP:0010459)	2.19007747
56	Dyschromatopsia (HP:0007641)	2.18662155
57	Nephronophthisis (HP:0000090)	2.16756854
58	Polydipsia (HP:0001959)	2.16299427
59	Abnormal drinking behavior (HP:0030082)	2.16299427
60	Long nose (HP:0003189)	2.15491862
61	Type II lissencephaly (HP:0007260)	2.13470228
62	Oligomenorrhea (HP:0000876)	2.13304345
63	Scotoma (HP:0000575)	2.12297609
64	Chorioretinal atrophy (HP:0000533)	2.10034731
65	Albinism (HP:0001022)	2.08293726
66	Tented upper lip vermilion (HP:0010804)	2.03926506
67	Lack of skin elasticity (HP:0100679)	2.02084884
68	Increased corneal curvature (HP:0100692)	1.99915472
69	Keratoconus (HP:0000563)	1.99915472
70	Excessive salivation (HP:0003781)	1.99914438
71	Abnormality of the aortic arch (HP:0012303)	1.99442889
72	Atonic seizures (HP:0010819)	1.96909812
73	Pancreatic fibrosis (HP:0100732)	1.95261732
74	Abnormal hair whorl (HP:0010721)	1.95167719
75	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.94144191
76	Abnormality of the nasal septum (HP:0000419)	1.91949253
77	Inability to walk (HP:0002540)	1.91855307
78	Medial flaring of the eyebrow (HP:0010747)	1.91178022
79	Generalized tonic-clonic seizures (HP:0002069)	1.89418058
80	Tachypnea (HP:0002789)	1.88098529
81	Gait imbalance (HP:0002141)	1.87517688
82	Poor head control (HP:0002421)	1.87021078
83	Abolished electroretinogram (ERG) (HP:0000550)	1.86792224
84	Abnormality of renin-angiotensin system (HP:0000847)	1.84951482
85	Increased circulating renin level (HP:0000848)	1.84568668
86	Constricted visual fields (HP:0001133)	1.84490065
87	Broad alveolar ridges (HP:0000187)	1.83282913
88	Vaginal atresia (HP:0000148)	1.81498079
89	Partial agenesis of the corpus callosum (HP:0001338)	1.81193932
90	Decreased circulating renin level (HP:0003351)	1.80487350
91	Status epilepticus (HP:0002133)	1.79176338
92	Congenital primary aphakia (HP:0007707)	1.76833350
93	Absence seizures (HP:0002121)	1.76686830
94	Ketoacidosis (HP:0001993)	1.75843718
95	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.75767715
96	Abnormality of the renal medulla (HP:0100957)	1.74153635
97	Tetany (HP:0001281)	1.73558867
98	Aplasia/Hypoplasia of the macula (HP:0008059)	1.73316656
99	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	1.73098949
100	Macroorchidism (HP:0000053)	1.72420246

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	CASK	5.89731857
2	FRK	4.83398409
3	ADRBK2	4.64633190
4	NME1	4.60640215
5	ICK	3.92184532
6	STK38L	3.28481393
7	ACVR1B	2.50437772
8	PINK1	2.47548988
9	WNK4	2.42643342
10	INSRR	2.38864806
11	PLK4	2.05942677
12	NEK6	2.02772010
13	MAP4K2	1.94745641
14	GRK1	1.82376821
15	PLK2	1.79102822
16	STK38	1.62442826
17	MAP2K6	1.56449687
18	STK39	1.54711440
19	PRKCE	1.42859132
20	ERN1	1.39508451
21	ZAK	1.37368193
22	PNCK	1.35327550
23	PRKD3	1.35159701
24	MAP3K4	1.31199358
25	DYRK3	1.28821264
26	MAP2K2	1.25165902
27	MAP2K7	1.21802399
28	WNK1	1.19766518
29	PDK2	1.18871746
30	SIK2	1.10773040
31	DAPK2	1.07653731
32	MAP2K1	1.07267357
33	CSNK1A1L	1.06307760
34	EIF2AK1	1.04670053
35	MAP3K9	1.00468282
36	PRKCG	1.00287666
37	ADRBK1	0.97829998
38	IRAK1	0.95085219
39	LATS2	0.94560771
40	FER	0.93511323
41	MARK1	0.91691527
42	BMPR1B	0.90475622
43	OXSR1	0.85688651
44	LATS1	0.80971320
45	PAK3	0.79568770
46	PRKCH	0.74020104
47	TAOK3	0.70679012
48	NTRK1	0.70620468
49	CAMK1G	0.69323612
50	PIK3CG	0.62048606
51	PRKCI	0.60342405
52	MATK	0.58900814
53	PRKD2	0.57675312
54	MAPK13	0.55116531
55	PHKG1	0.51233921
56	PHKG2	0.51233921
57	MARK3	0.49091213
58	STK3	0.47893781
59	CAMK2A	0.47491194
60	NLK	0.46921113
61	EPHB1	0.45352981
62	MUSK	0.44376510
63	CSNK1G2	0.42562609
64	NTRK3	0.41606253
65	HIPK2	0.40461149
66	TGFBR1	0.39989389
67	PDPK1	0.39850916
68	MAPKAPK5	0.39243708
69	EPHA3	0.36816133
70	TLK1	0.36127031
71	TNK2	0.35717180
72	CAMK1	0.34469554
73	KIT	0.34066706
74	SGK2	0.32170880
75	MAP2K4	0.31907724
76	SYK	0.31511862
77	STK24	0.31006090
78	TXK	0.30299651
79	NEK9	0.29882849
80	PRKAA2	0.29093982
81	SGK1	0.28782455
82	PRKACA	0.28287948
83	MAP3K2	0.27938994
84	PRKCA	0.27039595
85	MAPKAPK3	0.26095320
86	ATM	0.25268673
87	CHUK	0.25010997
88	ATR	0.24926095
89	PRKCB	0.24695570
90	CSNK1A1	0.24276191
91	GRK5	0.24006681
92	RPS6KA2	0.23618442
93	ERBB2	0.23372177
94	SGK223	0.23092052
95	SGK494	0.23092052
96	MELK	0.22190301
97	MAPK8	0.21967092
98	IKBKB	0.21188222
99	AKT2	0.21072349
100	PRKD1	0.20447946

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	4.12484412
2	Phototransduction_Homo sapiens_hsa04744	3.09689953
3	Cyanoamino acid metabolism_Homo sapiens_hsa00460	3.09112732
4	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	3.01716085
5	Morphine addiction_Homo sapiens_hsa05032	2.80288433
6	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.35621853
7	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.28992488
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.19685721
9	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.16499964
10	Caffeine metabolism_Homo sapiens_hsa00232	2.11955730
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.08898312
12	Linoleic acid metabolism_Homo sapiens_hsa00591	2.07610983
13	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.00573069
14	Taste transduction_Homo sapiens_hsa04742	1.99688698
15	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.97495860
16	GABAergic synapse_Homo sapiens_hsa04727	1.88915597
17	Nitrogen metabolism_Homo sapiens_hsa00910	1.87809793
18	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.81819547
19	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.81376211
20	ABC transporters_Homo sapiens_hsa02010	1.73158115
21	Olfactory transduction_Homo sapiens_hsa04740	1.72166778
22	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.71915690
23	Glycerolipid metabolism_Homo sapiens_hsa00561	1.61012797
24	Serotonergic synapse_Homo sapiens_hsa04726	1.45281548
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.42395131
26	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.37064642
27	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.36827308
28	Butanoate metabolism_Homo sapiens_hsa00650	1.30334368
29	Ether lipid metabolism_Homo sapiens_hsa00565	1.28585364
30	Sphingolipid metabolism_Homo sapiens_hsa00600	1.26425851
31	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.20307160
32	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.16617784
33	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.16445912
34	Chemical carcinogenesis_Homo sapiens_hsa05204	1.15971478
35	Selenocompound metabolism_Homo sapiens_hsa00450	1.12207896
36	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.11050295
37	Calcium signaling pathway_Homo sapiens_hsa04020	1.09343431
38	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.09261948
39	Salivary secretion_Homo sapiens_hsa04970	1.05756628
40	Fanconi anemia pathway_Homo sapiens_hsa03460	1.03363008
41	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.01545893
42	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.00003953
43	One carbon pool by folate_Homo sapiens_hsa00670	0.95441191
44	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.94249218
45	Histidine metabolism_Homo sapiens_hsa00340	0.93877560
46	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.93510397
47	Circadian entrainment_Homo sapiens_hsa04713	0.93367009
48	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.92592589
49	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.91571153
50	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.90964538
51	RNA polymerase_Homo sapiens_hsa03020	0.90851120
52	Cocaine addiction_Homo sapiens_hsa05030	0.90791608
53	Mineral absorption_Homo sapiens_hsa04978	0.86640907
54	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.84162125
55	Asthma_Homo sapiens_hsa05310	0.83887981
56	Gastric acid secretion_Homo sapiens_hsa04971	0.83614258
57	Fat digestion and absorption_Homo sapiens_hsa04975	0.83071920
58	Insulin secretion_Homo sapiens_hsa04911	0.82342780
59	Glutamatergic synapse_Homo sapiens_hsa04724	0.78361636
60	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.77333387
61	Protein export_Homo sapiens_hsa03060	0.72587824
62	Basal transcription factors_Homo sapiens_hsa03022	0.71777832
63	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.71488041
64	Retinol metabolism_Homo sapiens_hsa00830	0.69458255
65	Pancreatic secretion_Homo sapiens_hsa04972	0.66939549
66	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.66359416
67	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.64710218
68	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.61536356
69	Arginine and proline metabolism_Homo sapiens_hsa00330	0.58677630
70	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.58590869
71	beta-Alanine metabolism_Homo sapiens_hsa00410	0.58552085
72	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.57603512
73	Complement and coagulation cascades_Homo sapiens_hsa04610	0.57119054
74	Collecting duct acid secretion_Homo sapiens_hsa04966	0.54624731
75	Glutathione metabolism_Homo sapiens_hsa00480	0.53184418
76	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.52749886
77	Phenylalanine metabolism_Homo sapiens_hsa00360	0.50254743
78	Regulation of autophagy_Homo sapiens_hsa04140	0.50151046
79	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.49631887
80	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.49589316
81	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.49223229
82	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.47182689
83	Purine metabolism_Homo sapiens_hsa00230	0.46894475
84	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.43366284
85	RNA degradation_Homo sapiens_hsa03018	0.43218133
86	Peroxisome_Homo sapiens_hsa04146	0.41038303
87	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.40752296
88	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.39632029
89	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.39515530
90	Cholinergic synapse_Homo sapiens_hsa04725	0.39429884
91	Circadian rhythm_Homo sapiens_hsa04710	0.38077891
92	Renin secretion_Homo sapiens_hsa04924	0.38047821
93	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.35886571
94	PPAR signaling pathway_Homo sapiens_hsa03320	0.34946588
95	Metabolic pathways_Homo sapiens_hsa01100	0.33981410
96	Type I diabetes mellitus_Homo sapiens_hsa04940	0.31922767
97	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.31115863
98	Renin-angiotensin system_Homo sapiens_hsa04614	0.30931675
99	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.26956300
100	Bile secretion_Homo sapiens_hsa04976	0.24505571

FAM27D1

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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