ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.98698848
2	protein K11-linked deubiquitination (GO:0035871)	4.81513751
3	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.54885816
4	NADH dehydrogenase complex assembly (GO:0010257)	4.54885816
5	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.54885816
6	mitochondrial calcium ion transport (GO:0006851)	4.17913871
7	indole-containing compound catabolic process (GO:0042436)	4.14899767
8	indolalkylamine catabolic process (GO:0046218)	4.14899767
9	tryptophan catabolic process (GO:0006569)	4.14899767
10	DNA deamination (GO:0045006)	4.13126790
11	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.96198742
12	fucose catabolic process (GO:0019317)	3.91737351
13	L-fucose metabolic process (GO:0042354)	3.91737351
14	L-fucose catabolic process (GO:0042355)	3.91737351
15	protein complex biogenesis (GO:0070271)	3.89581655
16	kynurenine metabolic process (GO:0070189)	3.86647310
17	indolalkylamine metabolic process (GO:0006586)	3.84890211
18	platelet dense granule organization (GO:0060155)	3.82280625
19	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.80646306
20	kidney morphogenesis (GO:0060993)	3.78464652
21	response to pheromone (GO:0019236)	3.76318888
22	vitamin transmembrane transport (GO:0035461)	3.76093723
23	tryptophan metabolic process (GO:0006568)	3.67841587
24	neural tube formation (GO:0001841)	3.66289377
25	mitochondrial respiratory chain complex assembly (GO:0033108)	3.60105758
26	atrial cardiac muscle cell action potential (GO:0086014)	3.43093958
27	cysteine metabolic process (GO:0006534)	3.38846080
28	pseudouridine synthesis (GO:0001522)	3.33962688
29	cellular ketone body metabolic process (GO:0046950)	3.32873883
30	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.28405470
31	detection of light stimulus involved in sensory perception (GO:0050962)	3.27720296
32	detection of light stimulus involved in visual perception (GO:0050908)	3.27720296
33	protein-cofactor linkage (GO:0018065)	3.25238576
34	piRNA metabolic process (GO:0034587)	3.23943340
35	preassembly of GPI anchor in ER membrane (GO:0016254)	3.20950220
36	regulation of cilium movement (GO:0003352)	3.20384973
37	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.19734374
38	negative regulation of telomere maintenance (GO:0032205)	2.98595723
39	ketone body metabolic process (GO:1902224)	2.97873590
40	water-soluble vitamin biosynthetic process (GO:0042364)	2.94689678
41	indole-containing compound metabolic process (GO:0042430)	2.94625428
42	negative regulation of mast cell activation (GO:0033004)	2.94325947
43	regulation of action potential (GO:0098900)	2.92803468
44	regulation of memory T cell differentiation (GO:0043380)	2.90373510
45	mitochondrial calcium ion homeostasis (GO:0051560)	2.85779554
46	regulation of microtubule-based movement (GO:0060632)	2.85527969
47	regulation of meiosis I (GO:0060631)	2.82946336
48	L-methionine salvage (GO:0071267)	2.81362431
49	L-methionine biosynthetic process (GO:0071265)	2.81362431
50	amino acid salvage (GO:0043102)	2.81362431
51	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.79853796
52	rRNA catabolic process (GO:0016075)	2.78570294
53	oxidative demethylation (GO:0070989)	2.76567170
54	pyrimidine nucleobase catabolic process (GO:0006208)	2.74083324
55	drug catabolic process (GO:0042737)	2.73962496
56	primary amino compound metabolic process (GO:1901160)	2.73701027
57	sulfation (GO:0051923)	2.71026282
58	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.69205231
59	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.69205231
60	cornea development in camera-type eye (GO:0061303)	2.69020059
61	nonmotile primary cilium assembly (GO:0035058)	2.67473058
62	respiratory chain complex IV assembly (GO:0008535)	2.67169531
63	adenosine metabolic process (GO:0046085)	2.66480018
64	serotonin receptor signaling pathway (GO:0007210)	2.66229054
65	reflex (GO:0060004)	2.65981155
66	postsynaptic membrane organization (GO:0001941)	2.65842532
67	regulation of hippo signaling (GO:0035330)	2.65576944
68	DNA double-strand break processing (GO:0000729)	2.63704040
69	retinal cone cell development (GO:0046549)	2.63041228
70	synaptic transmission, cholinergic (GO:0007271)	2.62635618
71	DNA methylation involved in gamete generation (GO:0043046)	2.61890596
72	auditory receptor cell stereocilium organization (GO:0060088)	2.60542686
73	adult feeding behavior (GO:0008343)	2.60153508
74	behavioral response to ethanol (GO:0048149)	2.59452622
75	amine catabolic process (GO:0009310)	2.59241766
76	cellular biogenic amine catabolic process (GO:0042402)	2.59241766
77	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.57963520
78	maturation of 5.8S rRNA (GO:0000460)	2.56938807
79	peristalsis (GO:0030432)	2.54827522
80	positive regulation of meiosis (GO:0045836)	2.53646441
81	nucleobase catabolic process (GO:0046113)	2.52832944
82	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.52721134
83	glycerophospholipid catabolic process (GO:0046475)	2.52609862
84	cilium morphogenesis (GO:0060271)	2.51774983
85	sex differentiation (GO:0007548)	2.51634185
86	axoneme assembly (GO:0035082)	2.51547285
87	regulation of glucokinase activity (GO:0033131)	2.48778933
88	regulation of hexokinase activity (GO:1903299)	2.48778933
89	epithelial cilium movement (GO:0003351)	2.47965542
90	replication fork processing (GO:0031297)	2.47871760
91	multicellular organism reproduction (GO:0032504)	2.47700366
92	proline transport (GO:0015824)	2.47551059
93	aromatic amino acid family catabolic process (GO:0009074)	2.47446830
94	mannosylation (GO:0097502)	2.46500995
95	negative regulation of calcium ion transport into cytosol (GO:0010523)	2.45807008
96	negative regulation of interleukin-1 beta production (GO:0032691)	2.44991064
97	prenylation (GO:0097354)	2.44705872
98	protein prenylation (GO:0018342)	2.44705872
99	photoreceptor cell development (GO:0042461)	2.44672237
100	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.44178803

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.85467763
2	VDR_22108803_ChIP-Seq_LS180_Human	3.48279076
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.16865477
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.11834065
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.69741752
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.54031769
7	TAF15_26573619_Chip-Seq_HEK293_Human	2.50197495
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.28880388
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.28391591
10	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.17518417
11	EZH2_22144423_ChIP-Seq_EOC_Human	2.16918524
12	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.13309471
13	* FUS_26573619_Chip-Seq_HEK293_Human	2.11949149
14	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.10408922
15	* EWS_26573619_Chip-Seq_HEK293_Human	2.07673051
16	ER_23166858_ChIP-Seq_MCF-7_Human	2.07278926
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.04070337
18	P300_19829295_ChIP-Seq_ESCs_Human	1.95591486
19	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.94977689
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.91919830
21	TP53_22573176_ChIP-Seq_HFKS_Human	1.77108596
22	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.74647142
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.71473059
24	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.61209435
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.58815544
26	IRF1_19129219_ChIP-ChIP_H3396_Human	1.56150099
27	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.56105470
28	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.56005424
29	STAT3_23295773_ChIP-Seq_U87_Human	1.55385063
30	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.54332483
31	BCAT_22108803_ChIP-Seq_LS180_Human	1.54183781
32	AR_25329375_ChIP-Seq_VCAP_Human	1.54122092
33	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.52743396
34	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.51479817
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.51404110
36	* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.49627762
37	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.47744554
38	TCF4_23295773_ChIP-Seq_U87_Human	1.45862533
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.44986665
40	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.43164563
41	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.41934980
42	CBP_20019798_ChIP-Seq_JUKART_Human	1.41934980
43	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.41905172
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.41792673
45	REST_21632747_ChIP-Seq_MESCs_Mouse	1.40293867
46	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.37332015
47	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.36429315
48	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.36266593
49	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.36010937
50	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.35281815
51	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.35281815
52	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.35228991
53	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.34551881
54	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.33084229
55	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.33084229
56	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.30951453
57	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.30779929
58	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.30701120
59	* TCF4_22108803_ChIP-Seq_LS180_Human	1.30693026
60	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.28490839
61	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.27545093
62	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.27466639
63	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27109868
64	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25545603
65	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.24822661
66	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24286223
67	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21739174
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21739174
69	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.21715171
70	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.21590820
71	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.21445532
72	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.20477065
73	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.20301124
74	AR_21572438_ChIP-Seq_LNCaP_Human	1.18857430
75	AR_20517297_ChIP-Seq_VCAP_Human	1.17112903
76	NCOR_22424771_ChIP-Seq_293T_Human	1.16370364
77	P53_22387025_ChIP-Seq_ESCs_Mouse	1.14526866
78	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.14423128
79	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.14127327
80	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.13867854
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.13579852
82	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.13055537
83	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.13041632
84	RNF2_27304074_Chip-Seq_NSC_Mouse	1.11839856
85	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.11395467
86	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.11107158
87	HOXB7_26014856_ChIP-Seq_BT474_Human	1.09613803
88	* TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.08881227
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.08280147
90	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07876834
91	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.06915823
92	CDX2_22108803_ChIP-Seq_LS180_Human	1.05165655
93	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.03931727
94	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.02027274
95	TBL1_22424771_ChIP-Seq_293T_Human	1.00759319
96	P300_18555785_Chip-Seq_ESCs_Mouse	0.99756448
97	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.98972966
98	PHF8_20622853_ChIP-Seq_HELA_Human	0.97601382
99	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.97089525
100	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.96981101

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004043_abnormal_pH_regulation	2.86037607
2	MP0004147_increased_porphyrin_level	2.85790439
3	MP0005551_abnormal_eye_electrophysiolog	2.66711436
4	MP0003195_calcinosis	2.59250863
5	MP0002653_abnormal_ependyma_morphology	2.41519383
6	MP0003646_muscle_fatigue	2.36877921
7	MP0002102_abnormal_ear_morphology	2.28008025
8	MP0008877_abnormal_DNA_methylation	2.23173766
9	MP0002837_dystrophic_cardiac_calcinosis	2.11810390
10	MP0001968_abnormal_touch/_nociception	2.11423134
11	MP0009046_muscle_twitch	2.11010128
12	MP0008872_abnormal_physiological_respon	2.05255590
13	MP0002736_abnormal_nociception_after	2.04968938
14	MP0005253_abnormal_eye_physiology	2.03721556
15	MP0006072_abnormal_retinal_apoptosis	2.03670106
16	MP0000569_abnormal_digit_pigmentation	2.02667906
17	MP0001984_abnormal_olfaction	2.02234493
18	MP0001986_abnormal_taste_sensitivity	1.98863237
19	MP0002938_white_spotting	1.98020262
20	MP0009745_abnormal_behavioral_response	1.94866835
21	MP0005645_abnormal_hypothalamus_physiol	1.94309184
22	MP0004885_abnormal_endolymph	1.94244838
23	MP0005360_urolithiasis	1.87662294
24	MP0003880_abnormal_central_pattern	1.84784161
25	MP0008875_abnormal_xenobiotic_pharmacok	1.79716488
26	MP0005174_abnormal_tail_pigmentation	1.78857651
27	MP0005646_abnormal_pituitary_gland	1.72983381
28	MP0006292_abnormal_olfactory_placode	1.69964045
29	MP0002735_abnormal_chemical_nociception	1.69374591
30	MP0002876_abnormal_thyroid_physiology	1.63344518
31	MP0002009_preneoplasia	1.61012400
32	MP0002272_abnormal_nervous_system	1.60894679
33	MP0006276_abnormal_autonomic_nervous	1.60891196
34	MP0001501_abnormal_sleep_pattern	1.59838958
35	MP0000427_abnormal_hair_cycle	1.56128324
36	MP0005084_abnormal_gallbladder_morpholo	1.53360785
37	MP0001486_abnormal_startle_reflex	1.51535591
38	MP0001529_abnormal_vocalization	1.51448608
39	MP0005167_abnormal_blood-brain_barrier	1.50516065
40	MP0002138_abnormal_hepatobiliary_system	1.46430264
41	MP0003252_abnormal_bile_duct	1.41898067
42	MP0004924_abnormal_behavior	1.41547306
43	MP0005386_behavior/neurological_phenoty	1.41547306
44	MP0002234_abnormal_pharynx_morphology	1.39501011
45	MP0002638_abnormal_pupillary_reflex	1.36393349
46	MP0001764_abnormal_homeostasis	1.35538477
47	MP0003787_abnormal_imprinting	1.35390979
48	MP0002064_seizures	1.34349361
49	MP0002733_abnormal_thermal_nociception	1.33848979
50	MP0001970_abnormal_pain_threshold	1.32133286
51	MP0004133_heterotaxia	1.24449809
52	MP0002572_abnormal_emotion/affect_behav	1.24307090
53	MP0001485_abnormal_pinna_reflex	1.19116978
54	MP0000631_abnormal_neuroendocrine_gland	1.16833866
55	MP0000015_abnormal_ear_pigmentation	1.15370956
56	MP0002254_reproductive_system_inflammat	1.12373823
57	MP0004142_abnormal_muscle_tone	1.12104620
58	MP0005332_abnormal_amino_acid	1.10998617
59	MP0002063_abnormal_learning/memory/cond	1.09846405
60	MP0003635_abnormal_synaptic_transmissio	1.09724336
61	MP0002095_abnormal_skin_pigmentation	1.09624214
62	MP0003011_delayed_dark_adaptation	1.07244554
63	MP0003137_abnormal_impulse_conducting	1.07012338
64	MP0000372_irregular_coat_pigmentation	1.05265976
65	MP0003136_yellow_coat_color	1.03168987
66	MP0000230_abnormal_systemic_arterial	1.03067544
67	MP0010386_abnormal_urinary_bladder	1.00554528
68	MP0002160_abnormal_reproductive_system	1.00503406
69	MP0000383_abnormal_hair_follicle	0.99576407
70	MP0003718_maternal_effect	0.99433067
71	MP0005195_abnormal_posterior_eye	0.97526270
72	MP0004742_abnormal_vestibular_system	0.97429462
73	MP0005389_reproductive_system_phenotype	0.94739693
74	MP0002557_abnormal_social/conspecific_i	0.93751576
75	MP0002909_abnormal_adrenal_gland	0.90045210
76	MP0002928_abnormal_bile_duct	0.89954246
77	MP0005410_abnormal_fertilization	0.88607951
78	MP0005377_hearing/vestibular/ear_phenot	0.87093782
79	MP0003878_abnormal_ear_physiology	0.87093782
80	MP0002067_abnormal_sensory_capabilities	0.84867529
81	MP0005085_abnormal_gallbladder_physiolo	0.83449972
82	MP0003183_abnormal_peptide_metabolism	0.83051324
83	MP0002734_abnormal_mechanical_nocicepti	0.82946628
84	MP0000647_abnormal_sebaceous_gland	0.82902340
85	MP0000613_abnormal_salivary_gland	0.82732051
86	MP0000538_abnormal_urinary_bladder	0.82382288
87	MP0001324_abnormal_eye_pigmentation	0.81601852
88	MP0010329_abnormal_lipoprotein_level	0.80861572
89	MP0002752_abnormal_somatic_nervous	0.80659240
90	MP0008058_abnormal_DNA_repair	0.79585094
91	MP0005379_endocrine/exocrine_gland_phen	0.78569548
92	MP0002693_abnormal_pancreas_physiology	0.78174510
93	MP0001905_abnormal_dopamine_level	0.77670396
94	MP0008995_early_reproductive_senescence	0.76453944
95	MP0002184_abnormal_innervation	0.75835128
96	MP0003698_abnormal_male_reproductive	0.75346943
97	MP0002069_abnormal_eating/drinking_beha	0.74774006
98	MP0002163_abnormal_gland_morphology	0.73950202
99	MP0005391_vision/eye_phenotype	0.73594200
100	MP0003890_abnormal_embryonic-extraembry	0.73334954

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	5.18992673
2	Inability to walk (HP:0002540)	4.00614402
3	True hermaphroditism (HP:0010459)	3.99736978
4	Abnormality of midbrain morphology (HP:0002418)	3.94295344
5	Molar tooth sign on MRI (HP:0002419)	3.94295344
6	Pancreatic fibrosis (HP:0100732)	3.94196348
7	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.82961128
8	Abnormality of alanine metabolism (HP:0010916)	3.82961128
9	Hyperalaninemia (HP:0003348)	3.82961128
10	Congenital stationary night blindness (HP:0007642)	3.76737846
11	Nephronophthisis (HP:0000090)	3.73297757
12	Type II lissencephaly (HP:0007260)	3.62642791
13	Congenital sensorineural hearing impairment (HP:0008527)	3.58366193
14	Pendular nystagmus (HP:0012043)	3.54486417
15	Birth length less than 3rd percentile (HP:0003561)	3.45180608
16	Abnormality of the renal cortex (HP:0011035)	3.42800912
17	Attenuation of retinal blood vessels (HP:0007843)	3.32652874
18	Hyperventilation (HP:0002883)	3.32472898
19	Abnormality of the renal medulla (HP:0100957)	3.22282219
20	Medial flaring of the eyebrow (HP:0010747)	3.10986275
21	Abolished electroretinogram (ERG) (HP:0000550)	3.09178784
22	Abnormal rod and cone electroretinograms (HP:0008323)	2.70760134
23	Lissencephaly (HP:0001339)	2.66138950
24	Chorioretinal atrophy (HP:0000533)	2.59063128
25	Cystic liver disease (HP:0006706)	2.58968786
26	Renal cortical cysts (HP:0000803)	2.57939808
27	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.56763978
28	Gait imbalance (HP:0002141)	2.56524868
29	Genetic anticipation (HP:0003743)	2.48328325
30	Increased corneal curvature (HP:0100692)	2.47655199
31	Keratoconus (HP:0000563)	2.47655199
32	Nephrogenic diabetes insipidus (HP:0009806)	2.47612623
33	Congenital primary aphakia (HP:0007707)	2.47544140
34	Progressive cerebellar ataxia (HP:0002073)	2.44896113
35	Progressive inability to walk (HP:0002505)	2.43490668
36	Tubular atrophy (HP:0000092)	2.42456127
37	Gaze-evoked nystagmus (HP:0000640)	2.41761911
38	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.33650634
39	Chronic hepatic failure (HP:0100626)	2.33127078
40	Cerebellar dysplasia (HP:0007033)	2.26968550
41	Sclerocornea (HP:0000647)	2.23162555
42	Abnormal drinking behavior (HP:0030082)	2.21671303
43	Polydipsia (HP:0001959)	2.21671303
44	Decreased central vision (HP:0007663)	2.19930920
45	Broad-based gait (HP:0002136)	2.16754496
46	Genital tract atresia (HP:0001827)	2.13696716
47	Constricted visual fields (HP:0001133)	2.11629284
48	Anencephaly (HP:0002323)	2.09368348
49	Vaginal atresia (HP:0000148)	2.08009758
50	Protruding tongue (HP:0010808)	2.06360577
51	Focal motor seizures (HP:0011153)	2.06203802
52	Poor coordination (HP:0002370)	2.04994704
53	Microretrognathia (HP:0000308)	2.04709774
54	Large for gestational age (HP:0001520)	2.03058023
55	Disproportionate short-trunk short stature (HP:0003521)	2.01688917
56	Bile duct proliferation (HP:0001408)	2.00782059
57	Abnormal biliary tract physiology (HP:0012439)	2.00782059
58	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.00222421
59	Neuroendocrine neoplasm (HP:0100634)	1.99656747
60	Furrowed tongue (HP:0000221)	1.99656026
61	Focal seizures (HP:0007359)	1.98268538
62	Postaxial foot polydactyly (HP:0001830)	1.97846044
63	Patellar aplasia (HP:0006443)	1.97502006
64	Morphological abnormality of the pyramidal tract (HP:0002062)	1.97198253
65	Decreased circulating renin level (HP:0003351)	1.92948040
66	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.92606295
67	Aplasia/Hypoplasia of the patella (HP:0006498)	1.92241511
68	Severe muscular hypotonia (HP:0006829)	1.91348664
69	Male pseudohermaphroditism (HP:0000037)	1.91141148
70	Pheochromocytoma (HP:0002666)	1.90449027
71	Mutism (HP:0002300)	1.90262853
72	Bony spicule pigmentary retinopathy (HP:0007737)	1.88068947
73	Congenital hepatic fibrosis (HP:0002612)	1.86525420
74	Pancreatic islet-cell hyperplasia (HP:0004510)	1.85959264
75	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.81815011
76	Clumsiness (HP:0002312)	1.81790868
77	Aplasia/Hypoplasia of the sternum (HP:0006714)	1.81279293
78	Retinitis pigmentosa (HP:0000510)	1.80903715
79	Polyuria (HP:0000103)	1.80168705
80	Dandy-Walker malformation (HP:0001305)	1.80153671
81	Optic nerve hypoplasia (HP:0000609)	1.79894225
82	Hypothermia (HP:0002045)	1.79239785
83	Absent speech (HP:0001344)	1.78932708
84	Hemiparesis (HP:0001269)	1.78312187
85	Pachygyria (HP:0001302)	1.78246907
86	Abnormal respiratory motile cilium morphology (HP:0005938)	1.76780708
87	Abnormal respiratory epithelium morphology (HP:0012253)	1.76780708
88	Dialeptic seizures (HP:0011146)	1.75563072
89	Confusion (HP:0001289)	1.74385803
90	Occipital encephalocele (HP:0002085)	1.74291017
91	Abnormality of the pons (HP:0007361)	1.72051520
92	Retinal dysplasia (HP:0007973)	1.71636068
93	Hypoplasia of the fovea (HP:0007750)	1.70587349
94	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.70587349
95	Fair hair (HP:0002286)	1.68718113
96	Duplicated collecting system (HP:0000081)	1.66091750
97	Concave nail (HP:0001598)	1.65138266
98	Abnormality of the renal collecting system (HP:0004742)	1.63767155
99	Postaxial hand polydactyly (HP:0001162)	1.61839566
100	Acute encephalopathy (HP:0006846)	1.61705251

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.15321540
2	ACVR1B	3.81492245
3	BMPR1B	3.69537687
4	ADRBK2	3.01893342
5	MAP4K2	2.87367637
6	CASK	2.62833222
7	DAPK2	2.49623955
8	ZAK	2.45638229
9	TXK	2.37407087
10	PINK1	2.29553697
11	WNK3	2.29036214
12	GRK1	2.27384437
13	NEK1	2.16844806
14	MAPK13	1.93154277
15	NUAK1	1.88977117
16	STK3	1.71467756
17	WNK4	1.67087244
18	NEK2	1.62100092
19	VRK2	1.61691898
20	TAOK3	1.58310304
21	EIF2AK3	1.57083599
22	OXSR1	1.51469557
23	TRIM28	1.39774619
24	TGFBR1	1.37513820
25	TLK1	1.34001416
26	ERBB3	1.33264578
27	STK38L	1.29839144
28	ADRBK1	1.15872756
29	TIE1	1.15506862
30	BLK	1.12097034
31	MAP3K4	1.05869253
32	CDK19	1.05041967
33	WEE1	0.94445389
34	YES1	0.94269724
35	PHKG1	0.92447876
36	PHKG2	0.92447876
37	MKNK2	0.90750938
38	CAMKK2	0.90281046
39	VRK1	0.90079193
40	EIF2AK2	0.89807579
41	PLK4	0.86233837
42	PAK3	0.84412836
43	MAPKAPK5	0.82162963
44	INSRR	0.82004103
45	CSNK1G1	0.81974317
46	STK39	0.78875868
47	MARK1	0.77521625
48	CAMK1	0.76211141
49	CAMK4	0.74703005
50	MAPKAPK3	0.72550293
51	CSNK1G2	0.71444309
52	PTK2B	0.70100436
53	PRKCE	0.69799976
54	CSNK1G3	0.68551837
55	PLK2	0.68440623
56	CAMK2A	0.67406937
57	MST4	0.65917350
58	EPHA4	0.65670949
59	PRKCG	0.65568528
60	DYRK2	0.65535353
61	BCR	0.63565426
62	CSNK1A1	0.61360584
63	TNIK	0.59431939
64	BCKDK	0.56030660
65	MAP2K6	0.55678990
66	CAMKK1	0.55359597
67	MAP2K7	0.54503236
68	CSNK1A1L	0.50370710
69	MAP2K1	0.50311129
70	PRKCQ	0.49690168
71	BUB1	0.47964941
72	MAP3K7	0.45430090
73	NTRK2	0.44845092
74	TNK2	0.43793375
75	NME1	0.42558806
76	PRKCZ	0.41931882
77	IRAK1	0.41847531
78	PLK3	0.40825679
79	UHMK1	0.40328930
80	CHEK2	0.40325639
81	SYK	0.38550526
82	SGK2	0.38110269
83	PNCK	0.38102574
84	TAF1	0.36475192
85	FER	0.36436338
86	TEC	0.35714804
87	RPS6KA6	0.35324305
88	PRKCH	0.34009613
89	CAMK1G	0.34001320
90	NTRK3	0.33324875
91	IGF1R	0.32899980
92	MKNK1	0.32291870
93	CDK3	0.32254951
94	PRKAA2	0.31108282
95	RPS6KA5	0.30181022
96	PRKACA	0.29499825
97	CCNB1	0.28363860
98	SGK223	0.28121900
99	SGK494	0.28121900
100	PIK3CA	0.27789300

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.78099171
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.76686122
3	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.69416215
4	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.63807256
5	Linoleic acid metabolism_Homo sapiens_hsa00591	2.52501493
6	Butanoate metabolism_Homo sapiens_hsa00650	2.38507721
7	Selenocompound metabolism_Homo sapiens_hsa00450	2.35823088
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.30417701
9	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.22831077
10	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.18270612
11	Nicotine addiction_Homo sapiens_hsa05033	2.06701519
12	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.06480896
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.05737046
14	Tryptophan metabolism_Homo sapiens_hsa00380	2.01939359
15	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.92973803
16	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.90573847
17	Ether lipid metabolism_Homo sapiens_hsa00565	1.90417634
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.72863989
19	Propanoate metabolism_Homo sapiens_hsa00640	1.70479618
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.69157695
21	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.58007483
22	Basal transcription factors_Homo sapiens_hsa03022	1.54503553
23	RNA degradation_Homo sapiens_hsa03018	1.54484966
24	Homologous recombination_Homo sapiens_hsa03440	1.52402319
25	RNA polymerase_Homo sapiens_hsa03020	1.41875022
26	Morphine addiction_Homo sapiens_hsa05032	1.39735900
27	Olfactory transduction_Homo sapiens_hsa04740	1.38801635
28	Caffeine metabolism_Homo sapiens_hsa00232	1.36977418
29	Protein export_Homo sapiens_hsa03060	1.36529442
30	Taste transduction_Homo sapiens_hsa04742	1.31762195
31	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.30327115
32	Oxidative phosphorylation_Homo sapiens_hsa00190	1.28936831
33	Fanconi anemia pathway_Homo sapiens_hsa03460	1.27403160
34	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.25247900
35	GABAergic synapse_Homo sapiens_hsa04727	1.24303800
36	Serotonergic synapse_Homo sapiens_hsa04726	1.21744332
37	One carbon pool by folate_Homo sapiens_hsa00670	1.18510196
38	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.17817204
39	Sulfur metabolism_Homo sapiens_hsa00920	1.17577596
40	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.17347849
41	ABC transporters_Homo sapiens_hsa02010	1.15614439
42	Retinol metabolism_Homo sapiens_hsa00830	1.07897877
43	Peroxisome_Homo sapiens_hsa04146	1.07209780
44	Circadian entrainment_Homo sapiens_hsa04713	1.03118883
45	Chemical carcinogenesis_Homo sapiens_hsa05204	1.02628052
46	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.01297657
47	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.98930419
48	Insulin secretion_Homo sapiens_hsa04911	0.98247862
49	Glutamatergic synapse_Homo sapiens_hsa04724	0.96632469
50	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.94754432
51	Regulation of autophagy_Homo sapiens_hsa04140	0.94162967
52	Salivary secretion_Homo sapiens_hsa04970	0.92940896
53	Collecting duct acid secretion_Homo sapiens_hsa04966	0.92693753
54	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.85718476
55	Sulfur relay system_Homo sapiens_hsa04122	0.84765911
56	Long-term depression_Homo sapiens_hsa04730	0.84503982
57	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.84316523
58	Non-homologous end-joining_Homo sapiens_hsa03450	0.82781364
59	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.80182294
60	Purine metabolism_Homo sapiens_hsa00230	0.79751991
61	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.78037464
62	Glycerolipid metabolism_Homo sapiens_hsa00561	0.76990121
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.76776769
64	Parkinsons disease_Homo sapiens_hsa05012	0.75421527
65	Fatty acid degradation_Homo sapiens_hsa00071	0.73867344
66	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.71944071
67	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.71812789
68	Calcium signaling pathway_Homo sapiens_hsa04020	0.70118778
69	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.68947294
70	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.66514171
71	Metabolic pathways_Homo sapiens_hsa01100	0.63210741
72	beta-Alanine metabolism_Homo sapiens_hsa00410	0.62504137
73	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.61805442
74	Fat digestion and absorption_Homo sapiens_hsa04975	0.59827984
75	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.57841192
76	Pyrimidine metabolism_Homo sapiens_hsa00240	0.57727080
77	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.57205418
78	Fatty acid metabolism_Homo sapiens_hsa01212	0.56617908
79	Dopaminergic synapse_Homo sapiens_hsa04728	0.56355789
80	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.53148601
81	Alzheimers disease_Homo sapiens_hsa05010	0.49754387
82	Huntingtons disease_Homo sapiens_hsa05016	0.47556152
83	Histidine metabolism_Homo sapiens_hsa00340	0.47076429
84	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.46527843
85	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.46370463
86	Primary immunodeficiency_Homo sapiens_hsa05340	0.43487783
87	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.40480599
88	cAMP signaling pathway_Homo sapiens_hsa04024	0.40285519
89	Arginine biosynthesis_Homo sapiens_hsa00220	0.40024598
90	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.38541903
91	Gastric acid secretion_Homo sapiens_hsa04971	0.37583288
92	Cholinergic synapse_Homo sapiens_hsa04725	0.37449174
93	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.36256904
94	Type I diabetes mellitus_Homo sapiens_hsa04940	0.35485796
95	Amphetamine addiction_Homo sapiens_hsa05031	0.33864162
96	Nucleotide excision repair_Homo sapiens_hsa03420	0.33667010
97	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.33249255
98	Sphingolipid metabolism_Homo sapiens_hsa00600	0.33236606
99	Asthma_Homo sapiens_hsa05310	0.33051069
100	Cocaine addiction_Homo sapiens_hsa05030	0.32988300

PMCHL1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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