ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	platelet dense granule organization (GO:0060155)	4.57059945
2	L-fucose catabolic process (GO:0042355)	4.46451116
3	fucose catabolic process (GO:0019317)	4.46451116
4	L-fucose metabolic process (GO:0042354)	4.46451116
5	DNA deamination (GO:0045006)	4.31253300
6	behavioral response to nicotine (GO:0035095)	4.29963149
7	cellular ketone body metabolic process (GO:0046950)	4.24419784
8	water-soluble vitamin biosynthetic process (GO:0042364)	3.80114698
9	regulation of guanylate cyclase activity (GO:0031282)	3.79979335
10	ketone body metabolic process (GO:1902224)	3.75123546
11	sulfate transmembrane transport (GO:1902358)	3.47840457
12	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.40101099
13	protein-cofactor linkage (GO:0018065)	3.39977156
14	cytidine metabolic process (GO:0046087)	3.39833276
15	cytidine catabolic process (GO:0006216)	3.39833276
16	cytidine deamination (GO:0009972)	3.39833276
17	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.36643502
18	kidney morphogenesis (GO:0060993)	3.36352368
19	indolalkylamine metabolic process (GO:0006586)	3.24749464
20	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.17536713
21	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.17536713
22	ATP synthesis coupled proton transport (GO:0015986)	3.14690077
23	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.14690077
24	quinone biosynthetic process (GO:1901663)	3.13506529
25	positive regulation of guanylate cyclase activity (GO:0031284)	3.12287728
26	response to pheromone (GO:0019236)	3.10574306
27	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.07549508
28	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.06347941
29	sulfation (GO:0051923)	3.05660700
30	exogenous drug catabolic process (GO:0042738)	3.04260033
31	respiratory chain complex IV assembly (GO:0008535)	3.00838474
32	positive regulation of fatty acid transport (GO:2000193)	2.96714254
33	mannosylation (GO:0097502)	2.95968470
34	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.95488921
35	piRNA metabolic process (GO:0034587)	2.95395612
36	fucosylation (GO:0036065)	2.92815586
37	indole-containing compound catabolic process (GO:0042436)	2.92785508
38	indolalkylamine catabolic process (GO:0046218)	2.92785508
39	tryptophan catabolic process (GO:0006569)	2.92785508
40	protein polyglutamylation (GO:0018095)	2.92431141
41	sulfate transport (GO:0008272)	2.90582620
42	transepithelial transport (GO:0070633)	2.87004407
43	epithelial cilium movement (GO:0003351)	2.85596765
44	kynurenine metabolic process (GO:0070189)	2.82900014
45	regulation of glucokinase activity (GO:0033131)	2.82421328
46	regulation of hexokinase activity (GO:1903299)	2.82421328
47	axoneme assembly (GO:0035082)	2.80866020
48	proline transport (GO:0015824)	2.79243269
49	drug catabolic process (GO:0042737)	2.78940236
50	negative regulation of telomere maintenance (GO:0032205)	2.76759932
51	vitamin biosynthetic process (GO:0009110)	2.75253069
52	gamma-aminobutyric acid transport (GO:0015812)	2.74687136
53	ubiquinone biosynthetic process (GO:0006744)	2.74176581
54	somite development (GO:0061053)	2.74173684
55	positive regulation of icosanoid secretion (GO:0032305)	2.73316177
56	regulation of cilium movement (GO:0003352)	2.73152835
57	rRNA catabolic process (GO:0016075)	2.71915428
58	positive regulation of fatty acid oxidation (GO:0046321)	2.71324219
59	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.70570740
60	bicarbonate transport (GO:0015701)	2.69272740
61	negative regulation of mast cell activation (GO:0033004)	2.64130141
62	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.64127733
63	anterograde synaptic vesicle transport (GO:0048490)	2.62557526
64	inositol phosphate catabolic process (GO:0071545)	2.61780300
65	tryptophan metabolic process (GO:0006568)	2.60419996
66	auditory receptor cell stereocilium organization (GO:0060088)	2.60211218
67	positive regulation of prostaglandin secretion (GO:0032308)	2.59746016
68	intestinal absorption (GO:0050892)	2.59031963
69	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.58972079
70	inositol phosphate dephosphorylation (GO:0046855)	2.58972079
71	ubiquinone metabolic process (GO:0006743)	2.58179836
72	regulation of action potential (GO:0098900)	2.58165234
73	regulation of cGMP biosynthetic process (GO:0030826)	2.57721437
74	flavonoid metabolic process (GO:0009812)	2.57372277
75	positive regulation of defense response to virus by host (GO:0002230)	2.56293054
76	detection of light stimulus involved in sensory perception (GO:0050962)	2.55845258
77	detection of light stimulus involved in visual perception (GO:0050908)	2.55845258
78	cytochrome complex assembly (GO:0017004)	2.54968280
79	proton transport (GO:0015992)	2.53338715
80	arginine metabolic process (GO:0006525)	2.52299925
81	glycerol metabolic process (GO:0006071)	2.51312621
82	electron transport chain (GO:0022900)	2.50843070
83	protein complex biogenesis (GO:0070271)	2.50213539
84	behavioral response to ethanol (GO:0048149)	2.50135825
85	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.50008310
86	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.50008310
87	NADH dehydrogenase complex assembly (GO:0010257)	2.50008310
88	nucleobase catabolic process (GO:0046113)	2.49422345
89	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.49335063
90	hydrogen transport (GO:0006818)	2.49085824
91	positive regulation of respiratory burst (GO:0060267)	2.45656382
92	dopamine transport (GO:0015872)	2.44894315
93	respiratory electron transport chain (GO:0022904)	2.44729806
94	cornea development in camera-type eye (GO:0061303)	2.44686013
95	preassembly of GPI anchor in ER membrane (GO:0016254)	2.44145778
96	neuronal action potential (GO:0019228)	2.44140159
97	indole-containing compound metabolic process (GO:0042430)	2.43752880
98	photoreceptor cell maintenance (GO:0045494)	2.42053776
99	polyol catabolic process (GO:0046174)	2.41589708
100	regulation of cGMP metabolic process (GO:0030823)	2.41317104

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.68757530
2	VDR_22108803_ChIP-Seq_LS180_Human	3.55032776
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.23535538
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.39109308
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.36793678
6	IGF1R_20145208_ChIP-Seq_DFB_Human	2.30429943
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.29383991
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.29232452
9	EZH2_22144423_ChIP-Seq_EOC_Human	2.19227522
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.11853077
11	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.07689811
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.01654907
13	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.00981745
14	P300_19829295_ChIP-Seq_ESCs_Human	1.90413755
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.80630709
16	FUS_26573619_Chip-Seq_HEK293_Human	1.77607841
17	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.75245364
18	BCAT_22108803_ChIP-Seq_LS180_Human	1.75002609
19	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.74435097
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.70691818
21	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.70067496
22	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.69848873
23	EWS_26573619_Chip-Seq_HEK293_Human	1.67389539
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.66045825
25	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.62933234
26	TP53_22573176_ChIP-Seq_HFKS_Human	1.60755658
27	TAF15_26573619_Chip-Seq_HEK293_Human	1.53008813
28	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.52100672
29	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.52100672
30	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.51366919
31	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.48752322
32	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.48562051
33	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.46194168
34	TCF4_22108803_ChIP-Seq_LS180_Human	1.42115390
35	IRF1_19129219_ChIP-ChIP_H3396_Human	1.41528637
36	AR_25329375_ChIP-Seq_VCAP_Human	1.41179255
37	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.41145619
38	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.40886673
39	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.39242517
40	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.36268447
41	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.35764107
42	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.35144586
43	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.35013580
44	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.35013580
45	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.34188559
46	MYC_18940864_ChIP-ChIP_HL60_Human	1.33647632
47	AR_20517297_ChIP-Seq_VCAP_Human	1.33386278
48	CBP_20019798_ChIP-Seq_JUKART_Human	1.33316434
49	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.33316434
50	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.32937122
51	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.31444977
52	NCOR_22424771_ChIP-Seq_293T_Human	1.31035382
53	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.30994979
54	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.29412561
55	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.28659489
56	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.28659432
57	* SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.28134515
58	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24802858
59	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.23350996
60	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.21721448
61	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.19994592
62	STAT3_23295773_ChIP-Seq_U87_Human	1.19049879
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.19011273
64	CDX2_22108803_ChIP-Seq_LS180_Human	1.19001950
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.18837442
66	NANOG_20526341_ChIP-Seq_ESCs_Human	1.18738141
67	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.15474894
68	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.15241295
69	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.15019706
70	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.14735879
71	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.14602397
72	* RUNX2_22187159_ChIP-Seq_PCA_Human	1.14550946
73	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.14533095
74	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.14244690
75	SMAD4_21799915_ChIP-Seq_A2780_Human	1.13769039
76	HOXB7_26014856_ChIP-Seq_BT474_Human	1.13650154
77	* TCF4_23295773_ChIP-Seq_U87_Human	1.13184598
78	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.12054222
79	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.12054222
80	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.10679481
81	* SMAD4_21741376_ChIP-Seq_EPCs_Human	1.09350407
82	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.09341148
83	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.07906743
84	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.04535925
85	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04415375
86	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.04353040
87	MYC_19829295_ChIP-Seq_ESCs_Human	1.03694888
88	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.03281531
89	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.02567975
90	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.01153371
91	* GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.01038759
92	* FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00034348
93	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	0.99611930
94	CDX2_20551321_ChIP-Seq_CACO-2_Human	0.99570233
95	P53_21459846_ChIP-Seq_SAOS-2_Human	0.98868211
96	TAF2_19829295_ChIP-Seq_ESCs_Human	0.98676985
97	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.98510467
98	ERA_21632823_ChIP-Seq_H3396_Human	0.98113576
99	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.97893236
100	RNF2_27304074_Chip-Seq_NSC_Mouse	0.97042206

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004147_increased_porphyrin_level	2.95834559
2	MP0004043_abnormal_pH_regulation	2.76957811
3	MP0008877_abnormal_DNA_methylation	2.67963623
4	MP0002876_abnormal_thyroid_physiology	2.57830060
5	MP0005360_urolithiasis	2.49198545
6	MP0002102_abnormal_ear_morphology	2.33394234
7	MP0005085_abnormal_gallbladder_physiolo	2.33217505
8	MP0008872_abnormal_physiological_respon	2.29998870
9	MP0001501_abnormal_sleep_pattern	2.25692342
10	MP0005551_abnormal_eye_electrophysiolog	2.21244236
11	MP0005645_abnormal_hypothalamus_physiol	2.15896533
12	MP0003195_calcinosis	2.08093757
13	MP0003011_delayed_dark_adaptation	2.03742608
14	MP0001986_abnormal_taste_sensitivity	2.02157208
15	MP0008875_abnormal_xenobiotic_pharmacok	2.00024615
16	MP0006292_abnormal_olfactory_placode	1.97203290
17	MP0006072_abnormal_retinal_apoptosis	1.96530975
18	MP0001968_abnormal_touch/_nociception	1.85227554
19	MP0001485_abnormal_pinna_reflex	1.84062465
20	MP0009745_abnormal_behavioral_response	1.81190466
21	MP0005365_abnormal_bile_salt	1.78071607
22	MP0003787_abnormal_imprinting	1.69818917
23	MP0002837_dystrophic_cardiac_calcinosis	1.66541301
24	MP0003283_abnormal_digestive_organ	1.63034552
25	MP0002736_abnormal_nociception_after	1.61732397
26	MP0002139_abnormal_hepatobiliary_system	1.60762049
27	MP0002272_abnormal_nervous_system	1.57953843
28	MP0005646_abnormal_pituitary_gland	1.55481659
29	MP0004885_abnormal_endolymph	1.54410189
30	MP0004019_abnormal_vitamin_homeostasis	1.51493447
31	MP0010329_abnormal_lipoprotein_level	1.50656071
32	MP0009046_muscle_twitch	1.46559629
33	MP0002638_abnormal_pupillary_reflex	1.46256546
34	MP0003646_muscle_fatigue	1.42375923
35	MP0005084_abnormal_gallbladder_morpholo	1.39990897
36	MP0000427_abnormal_hair_cycle	1.38330020
37	MP0004142_abnormal_muscle_tone	1.37328382
38	MP0002733_abnormal_thermal_nociception	1.35130856
39	MP0002277_abnormal_respiratory_mucosa	1.33785735
40	MP0005670_abnormal_white_adipose	1.33045756
41	MP0009379_abnormal_foot_pigmentation	1.32975594
42	MP0005671_abnormal_response_to	1.32926792
43	MP0005253_abnormal_eye_physiology	1.32123652
44	MP0001765_abnormal_ion_homeostasis	1.28477653
45	MP0001486_abnormal_startle_reflex	1.27200744
46	MP0005167_abnormal_blood-brain_barrier	1.26640025
47	MP0001873_stomach_inflammation	1.26274611
48	MP0006276_abnormal_autonomic_nervous	1.24966885
49	MP0005332_abnormal_amino_acid	1.24860323
50	MP0004133_heterotaxia	1.24142805
51	MP0005636_abnormal_mineral_homeostasis	1.23847151
52	MP0002653_abnormal_ependyma_morphology	1.23618818
53	MP0002572_abnormal_emotion/affect_behav	1.21444443
54	MP0001970_abnormal_pain_threshold	1.19878077
55	MP0000230_abnormal_systemic_arterial	1.18815728
56	MP0004145_abnormal_muscle_electrophysio	1.18618012
57	MP0002735_abnormal_chemical_nociception	1.18164236
58	MP0002064_seizures	1.17842841
59	MP0002160_abnormal_reproductive_system	1.17513240
60	MP0001664_abnormal_digestion	1.17116905
61	MP0001764_abnormal_homeostasis	1.16484551
62	MP0005389_reproductive_system_phenotype	1.15906978
63	MP0004742_abnormal_vestibular_system	1.14939503
64	MP0001984_abnormal_olfaction	1.14623296
65	MP0001188_hyperpigmentation	1.12566299
66	MP0000631_abnormal_neuroendocrine_gland	1.12108283
67	MP0003718_maternal_effect	1.11059284
68	MP0001666_abnormal_nutrient_absorption	1.09206590
69	MP0003880_abnormal_central_pattern	1.07240110
70	MP0002557_abnormal_social/conspecific_i	1.03750649
71	MP0001905_abnormal_dopamine_level	1.03277232
72	MP0002938_white_spotting	1.02069659
73	MP0005174_abnormal_tail_pigmentation	1.00165395
74	MP0004215_abnormal_myocardial_fiber	0.96860771
75	MP0001919_abnormal_reproductive_system	0.96789610
76	MP0002909_abnormal_adrenal_gland	0.94827412
77	MP0005386_behavior/neurological_phenoty	0.94178690
78	MP0004924_abnormal_behavior	0.94178690
79	MP0005448_abnormal_energy_balance	0.93052148
80	MP0000538_abnormal_urinary_bladder	0.92738671
81	MP0003806_abnormal_nucleotide_metabolis	0.92686119
82	MP0002138_abnormal_hepatobiliary_system	0.92142011
83	MP0003136_yellow_coat_color	0.91057770
84	MP0005377_hearing/vestibular/ear_phenot	0.89342583
85	MP0003878_abnormal_ear_physiology	0.89342583
86	MP0003252_abnormal_bile_duct	0.87550154
87	MP0002751_abnormal_autonomic_nervous	0.85708921
88	MP0009643_abnormal_urine_homeostasis	0.84952824
89	MP0002063_abnormal_learning/memory/cond	0.84271399
90	MP0003866_abnormal_defecation	0.83843932
91	MP0002067_abnormal_sensory_capabilities	0.82468159
92	MP0001529_abnormal_vocalization	0.81772512
93	MP0003635_abnormal_synaptic_transmissio	0.81242096
94	MP0005423_abnormal_somatic_nervous	0.80703604
95	MP0008995_early_reproductive_senescence	0.79343133
96	MP0001663_abnormal_digestive_system	0.79164304
97	MP0005410_abnormal_fertilization	0.78650190
98	MP0001756_abnormal_urination	0.78627701
99	MP0003121_genomic_imprinting	0.77195316
100	MP0003137_abnormal_impulse_conducting	0.75793820

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.12799430
2	Pancreatic fibrosis (HP:0100732)	3.71068871
3	Molar tooth sign on MRI (HP:0002419)	3.69864868
4	Abnormality of midbrain morphology (HP:0002418)	3.69864868
5	True hermaphroditism (HP:0010459)	3.61479714
6	Congenital stationary night blindness (HP:0007642)	3.35222329
7	Decreased circulating renin level (HP:0003351)	3.31693589
8	Nephronophthisis (HP:0000090)	3.20744590
9	Type II lissencephaly (HP:0007260)	3.12427440
10	Metabolic alkalosis (HP:0200114)	2.92150042
11	Abolished electroretinogram (ERG) (HP:0000550)	2.89511737
12	Abnormality of the renal cortex (HP:0011035)	2.78556293
13	Pendular nystagmus (HP:0012043)	2.76413320
14	Abnormality of renin-angiotensin system (HP:0000847)	2.74339068
15	Abnormality of the renal medulla (HP:0100957)	2.70663822
16	Abnormality of vitamin B metabolism (HP:0004340)	2.69811951
17	Limb dystonia (HP:0002451)	2.68643138
18	Medial flaring of the eyebrow (HP:0010747)	2.68488956
19	Hyperventilation (HP:0002883)	2.65421177
20	Abnormal drinking behavior (HP:0030082)	2.61117301
21	Polydipsia (HP:0001959)	2.61117301
22	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.60973494
23	Stomach cancer (HP:0012126)	2.57240764
24	Cystic liver disease (HP:0006706)	2.57196657
25	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.53663732
26	Abnormality of alanine metabolism (HP:0010916)	2.52991717
27	Hyperalaninemia (HP:0003348)	2.52991717
28	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.52991717
29	Hypothermia (HP:0002045)	2.51916724
30	Congenital, generalized hypertrichosis (HP:0004540)	2.51900421
31	Hyperglycinuria (HP:0003108)	2.50105311
32	Renal cortical cysts (HP:0000803)	2.47933857
33	Attenuation of retinal blood vessels (HP:0007843)	2.45752468
34	Methylmalonic aciduria (HP:0012120)	2.42331816
35	Keratoconus (HP:0000563)	2.41767535
36	Increased corneal curvature (HP:0100692)	2.41767535
37	Glycosuria (HP:0003076)	2.40382756
38	Abnormality of urine glucose concentration (HP:0011016)	2.40382756
39	Hydroxyprolinuria (HP:0003080)	2.37839738
40	Abnormality of proline metabolism (HP:0010907)	2.37839738
41	Congenital sensorineural hearing impairment (HP:0008527)	2.35583291
42	Abnormal rod and cone electroretinograms (HP:0008323)	2.33045532
43	Methylmalonic acidemia (HP:0002912)	2.30599070
44	Hepatic necrosis (HP:0002605)	2.29985908
45	Decreased central vision (HP:0007663)	2.26200066
46	Lissencephaly (HP:0001339)	2.25433047
47	Large for gestational age (HP:0001520)	2.24894497
48	Alkalosis (HP:0001948)	2.24467562
49	Sclerocornea (HP:0000647)	2.21300564
50	Furrowed tongue (HP:0000221)	2.20523037
51	Tubular atrophy (HP:0000092)	2.20405764
52	Hyperactive renin-angiotensin system (HP:0000841)	2.20221421
53	Abnormality of serine family amino acid metabolism (HP:0010894)	2.18483789
54	Abnormality of glycine metabolism (HP:0010895)	2.18483789
55	Mitochondrial inheritance (HP:0001427)	2.18450552
56	Chronic hepatic failure (HP:0100626)	2.16982986
57	Increased CSF lactate (HP:0002490)	2.12069822
58	Lipid accumulation in hepatocytes (HP:0006561)	2.10720865
59	Optic nerve hypoplasia (HP:0000609)	2.09122535
60	Abnormal biliary tract physiology (HP:0012439)	2.08433739
61	Bile duct proliferation (HP:0001408)	2.08433739
62	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.06326578
63	Hepatocellular necrosis (HP:0001404)	2.05495467
64	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.05259258
65	Absent/shortened dynein arms (HP:0200106)	2.05259258
66	Hypomagnesemia (HP:0002917)	2.04794672
67	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.03781963
68	Cerebellar dysplasia (HP:0007033)	2.02718382
69	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.01326606
70	3-Methylglutaconic aciduria (HP:0003535)	2.00419698
71	Pachygyria (HP:0001302)	1.98081558
72	Inability to walk (HP:0002540)	1.97697543
73	Hemiparesis (HP:0001269)	1.97249035
74	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.96212484
75	Dicarboxylic aciduria (HP:0003215)	1.96212484
76	Optic disc pallor (HP:0000543)	1.94990649
77	Polyuria (HP:0000103)	1.92761747
78	Ketosis (HP:0001946)	1.91928553
79	Gait imbalance (HP:0002141)	1.91588023
80	Acute necrotizing encephalopathy (HP:0006965)	1.91535208
81	Retinal dysplasia (HP:0007973)	1.89719303
82	Polyphagia (HP:0002591)	1.88093229
83	Male pseudohermaphroditism (HP:0000037)	1.87491426
84	Confusion (HP:0001289)	1.86657588
85	Acute encephalopathy (HP:0006846)	1.86427946
86	Gaze-evoked nystagmus (HP:0000640)	1.85303162
87	Congenital hepatic fibrosis (HP:0002612)	1.85106998
88	Focal motor seizures (HP:0011153)	1.84522089
89	Chorioretinal atrophy (HP:0000533)	1.82882467
90	Congenital primary aphakia (HP:0007707)	1.82495317
91	Abnormality of vitamin metabolism (HP:0100508)	1.81638685
92	Increased serum lactate (HP:0002151)	1.80893999
93	Progressive macrocephaly (HP:0004481)	1.78786928
94	Concave nail (HP:0001598)	1.78521647
95	Genetic anticipation (HP:0003743)	1.78316969
96	Nephrogenic diabetes insipidus (HP:0009806)	1.77164389
97	Hyperaldosteronism (HP:0000859)	1.76444383
98	Severe muscular hypotonia (HP:0006829)	1.76318078
99	Abnormal urine output (HP:0012590)	1.75087897
100	Ketoacidosis (HP:0001993)	1.74816314

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.26207111
2	ADRBK2	3.54757401
3	ACVR1B	3.23383568
4	GRK1	3.13940072
5	TXK	3.08997558
6	ZAK	2.78609692
7	WNK4	2.65890393
8	NUAK1	2.58054815
9	TAOK3	2.47479031
10	BMPR1B	2.38624136
11	PINK1	2.38532666
12	TLK1	2.19228931
13	STK39	2.09750918
14	OXSR1	2.07109081
15	CASK	2.03522098
16	MAP4K2	1.98451528
17	INSRR	1.96430265
18	WNK3	1.93129151
19	MAP3K4	1.68247210
20	MAPK13	1.65730285
21	DAPK2	1.34668856
22	DYRK2	1.26520872
23	MKNK2	1.24971540
24	PIK3CA	1.23773982
25	ADRBK1	1.15091818
26	BRSK2	1.14753773
27	TESK2	1.08484968
28	TNIK	1.08197513
29	TRIM28	1.07950469
30	TIE1	1.06435443
31	VRK2	1.04803490
32	PHKG1	1.03584609
33	PHKG2	1.03584609
34	PRKCE	1.01464751
35	TAF1	1.01454587
36	MAP2K6	0.99352219
37	MAP2K7	0.97861590
38	PAK3	0.97659310
39	BCKDK	0.97332357
40	MST4	0.94776051
41	PRKCG	0.88626272
42	MARK1	0.82437661
43	ERBB3	0.81660465
44	NME1	0.78553116
45	VRK1	0.77289457
46	IKBKB	0.76914491
47	NTRK3	0.75187854
48	MAPKAPK5	0.74347180
49	MUSK	0.73259245
50	TEC	0.72695248
51	STK38L	0.72661457
52	PRKCQ	0.71735782
53	KIT	0.69751051
54	TGFBR1	0.68248746
55	PNCK	0.68032085
56	ITK	0.67566083
57	CSNK1G2	0.65488597
58	MAP2K2	0.65223543
59	CAMKK2	0.62777152
60	EPHA4	0.61124202
61	BCR	0.60244368
62	CSNK1G1	0.60045539
63	LIMK1	0.59524070
64	CSNK1G3	0.57694207
65	MAPKAPK3	0.57298869
66	NTRK2	0.56433184
67	TRPM7	0.55966489
68	CAMK2A	0.55584808
69	MKNK1	0.55317129
70	FGFR2	0.55007849
71	CDK19	0.53749519
72	PRKACA	0.53247027
73	PTK2B	0.51492085
74	PKN1	0.50796018
75	GRK5	0.49807765
76	PRKCI	0.49235069
77	PRKCA	0.48016329
78	PLK4	0.47214505
79	FLT3	0.45903403
80	SYK	0.44804447
81	MAPK15	0.44445729
82	EIF2AK3	0.43404359
83	IGF1R	0.42754243
84	CSNK1A1	0.42208190
85	PRKG2	0.39175280
86	ERBB2	0.37730738
87	CHUK	0.36802351
88	KDR	0.36047269
89	PLK2	0.34881233
90	CDK3	0.34012542
91	CAMK2D	0.34003498
92	PRKAA2	0.33467281
93	MATK	0.33288740
94	GRK7	0.33272658
95	LYN	0.32698851
96	RPS6KA5	0.32074746
97	PRKG1	0.31585592
98	LCK	0.30598420
99	EIF2AK2	0.30378776
100	EPHB2	0.29593818

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	3.09058148
2	Sulfur metabolism_Homo sapiens_hsa00920	2.75607993
3	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.61778663
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.59849132
5	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.44353523
6	Butanoate metabolism_Homo sapiens_hsa00650	2.42889427
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.40255956
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.24615434
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.13984135
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.12760229
11	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.06226539
12	Tryptophan metabolism_Homo sapiens_hsa00380	2.05400544
13	Phototransduction_Homo sapiens_hsa04744	2.04345534
14	Fat digestion and absorption_Homo sapiens_hsa04975	2.04087876
15	Caffeine metabolism_Homo sapiens_hsa00232	1.99934380
16	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.85921157
17	Parkinsons disease_Homo sapiens_hsa05012	1.81532007
18	Ether lipid metabolism_Homo sapiens_hsa00565	1.64562288
19	Selenocompound metabolism_Homo sapiens_hsa00450	1.63479159
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.61617143
21	Mineral absorption_Homo sapiens_hsa04978	1.58391736
22	Protein export_Homo sapiens_hsa03060	1.58289944
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.54855845
24	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.49671463
25	Retinol metabolism_Homo sapiens_hsa00830	1.47929456
26	Chemical carcinogenesis_Homo sapiens_hsa05204	1.45363633
27	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.43674729
28	Nicotine addiction_Homo sapiens_hsa05033	1.40917620
29	Propanoate metabolism_Homo sapiens_hsa00640	1.38930820
30	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.37611283
31	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.36726976
32	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.32641263
33	Histidine metabolism_Homo sapiens_hsa00340	1.31764196
34	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.28792447
35	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.28472828
36	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.26965666
37	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.16273757
38	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.15948968
39	RNA polymerase_Homo sapiens_hsa03020	1.14647445
40	Alzheimers disease_Homo sapiens_hsa05010	1.14456373
41	Peroxisome_Homo sapiens_hsa04146	1.13952619
42	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.12841164
43	Fatty acid degradation_Homo sapiens_hsa00071	1.11627521
44	Glycerolipid metabolism_Homo sapiens_hsa00561	1.11268198
45	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.10703478
46	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.08465268
47	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.08367805
48	Fatty acid elongation_Homo sapiens_hsa00062	1.07759292
49	Homologous recombination_Homo sapiens_hsa03440	1.05109796
50	Huntingtons disease_Homo sapiens_hsa05016	1.05065155
51	Cardiac muscle contraction_Homo sapiens_hsa04260	1.04996469
52	Sulfur relay system_Homo sapiens_hsa04122	1.02991014
53	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.02224955
54	Taste transduction_Homo sapiens_hsa04742	0.97700035
55	Primary immunodeficiency_Homo sapiens_hsa05340	0.85316276
56	Asthma_Homo sapiens_hsa05310	0.84242006
57	Fatty acid metabolism_Homo sapiens_hsa01212	0.82266362
58	Type I diabetes mellitus_Homo sapiens_hsa04940	0.82131803
59	Olfactory transduction_Homo sapiens_hsa04740	0.81285721
60	Arginine and proline metabolism_Homo sapiens_hsa00330	0.79203066
61	Renin-angiotensin system_Homo sapiens_hsa04614	0.79051088
62	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.78580304
63	Morphine addiction_Homo sapiens_hsa05032	0.78131647
64	Basal transcription factors_Homo sapiens_hsa03022	0.75094032
65	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.71020486
66	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.70675799
67	PPAR signaling pathway_Homo sapiens_hsa03320	0.69602226
68	Collecting duct acid secretion_Homo sapiens_hsa04966	0.69439386
69	Insulin secretion_Homo sapiens_hsa04911	0.68980227
70	Metabolic pathways_Homo sapiens_hsa01100	0.67563201
71	Bile secretion_Homo sapiens_hsa04976	0.67377947
72	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66824365
73	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.66353682
74	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.65435414
75	Fanconi anemia pathway_Homo sapiens_hsa03460	0.63569836
76	RNA degradation_Homo sapiens_hsa03018	0.63027307
77	Regulation of autophagy_Homo sapiens_hsa04140	0.62648088
78	Serotonergic synapse_Homo sapiens_hsa04726	0.62099307
79	Purine metabolism_Homo sapiens_hsa00230	0.60062133
80	ABC transporters_Homo sapiens_hsa02010	0.58970481
81	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.57988399
82	Graft-versus-host disease_Homo sapiens_hsa05332	0.57983968
83	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.57644496
84	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.56598839
85	Circadian entrainment_Homo sapiens_hsa04713	0.54448201
86	Allograft rejection_Homo sapiens_hsa05330	0.53591799
87	Proteasome_Homo sapiens_hsa03050	0.51042073
88	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.49056822
89	Pancreatic secretion_Homo sapiens_hsa04972	0.48811209
90	Salivary secretion_Homo sapiens_hsa04970	0.48406655
91	Arginine biosynthesis_Homo sapiens_hsa00220	0.47850450
92	GABAergic synapse_Homo sapiens_hsa04727	0.45319850
93	Amphetamine addiction_Homo sapiens_hsa05031	0.44711431
94	Glutamatergic synapse_Homo sapiens_hsa04724	0.43776844
95	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.43707769
96	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.43623055
97	Protein digestion and absorption_Homo sapiens_hsa04974	0.42214761
98	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.41405632
99	Tyrosine metabolism_Homo sapiens_hsa00350	0.39919158
100	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.34988520

FRMD1

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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