ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.44392662
2	fucose catabolic process (GO:0019317)	4.96164255
3	L-fucose metabolic process (GO:0042354)	4.96164255
4	L-fucose catabolic process (GO:0042355)	4.96164255
5	platelet dense granule organization (GO:0060155)	3.62519305
6	protein-cofactor linkage (GO:0018065)	3.60141209
7	DNA deamination (GO:0045006)	3.58197684
8	response to pheromone (GO:0019236)	3.52901867
9	gamma-aminobutyric acid transport (GO:0015812)	3.47381141
10	tryptophan catabolic process (GO:0006569)	3.44763268
11	indole-containing compound catabolic process (GO:0042436)	3.44763268
12	indolalkylamine catabolic process (GO:0046218)	3.44763268
13	cellular ketone body metabolic process (GO:0046950)	3.38109423
14	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.37680731
15	protein complex biogenesis (GO:0070271)	3.31258993
16	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.28755878
17	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.28755878
18	NADH dehydrogenase complex assembly (GO:0010257)	3.28755878
19	water-soluble vitamin biosynthetic process (GO:0042364)	3.22935870
20	kynurenine metabolic process (GO:0070189)	3.18564828
21	respiratory chain complex IV assembly (GO:0008535)	3.17568389
22	epithelial cilium movement (GO:0003351)	3.15442501
23	indolalkylamine metabolic process (GO:0006586)	3.14667128
24	behavioral response to ethanol (GO:0048149)	3.12209180
25	hindbrain development (GO:0030902)	3.12099833
26	nonmotile primary cilium assembly (GO:0035058)	3.11560072
27	nephron epithelium morphogenesis (GO:0072088)	3.10515143
28	nephron tubule morphogenesis (GO:0072078)	3.10515143
29	negative regulation of telomere maintenance (GO:0032205)	3.09910486
30	ketone body metabolic process (GO:1902224)	3.08017276
31	tryptophan metabolic process (GO:0006568)	3.07982639
32	mitochondrial respiratory chain complex assembly (GO:0033108)	3.07863829
33	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.07498333
34	kidney morphogenesis (GO:0060993)	3.03628124
35	centriole replication (GO:0007099)	3.02752558
36	piRNA metabolic process (GO:0034587)	3.02424065
37	cornea development in camera-type eye (GO:0061303)	3.01176301
38	cilium morphogenesis (GO:0060271)	2.98642705
39	neural tube formation (GO:0001841)	2.97563786
40	cytochrome complex assembly (GO:0017004)	2.95568603
41	regulation of hexokinase activity (GO:1903299)	2.95190016
42	regulation of glucokinase activity (GO:0033131)	2.95190016
43	regulation of action potential (GO:0098900)	2.92083095
44	protein K11-linked deubiquitination (GO:0035871)	2.89701671
45	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.89209018
46	adaptation of signaling pathway (GO:0023058)	2.88943953
47	preassembly of GPI anchor in ER membrane (GO:0016254)	2.88077848
48	protein localization to cilium (GO:0061512)	2.87586570
49	axoneme assembly (GO:0035082)	2.86820926
50	regulation of neurotransmitter uptake (GO:0051580)	2.83881060
51	regulation of cilium movement (GO:0003352)	2.80947676
52	neuronal action potential (GO:0019228)	2.80259818
53	reciprocal meiotic recombination (GO:0007131)	2.78779371
54	reciprocal DNA recombination (GO:0035825)	2.78779371
55	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.78504645
56	male meiosis I (GO:0007141)	2.76852007
57	protein prenylation (GO:0018342)	2.74725341
58	prenylation (GO:0097354)	2.74725341
59	fucosylation (GO:0036065)	2.71225362
60	amine catabolic process (GO:0009310)	2.66210375
61	cellular biogenic amine catabolic process (GO:0042402)	2.66210375
62	startle response (GO:0001964)	2.65378426
63	multicellular organism reproduction (GO:0032504)	2.65103500
64	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.65058660
65	pyrimidine nucleobase catabolic process (GO:0006208)	2.64234463
66	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.63020540
67	cilium organization (GO:0044782)	2.62502839
68	detection of light stimulus involved in sensory perception (GO:0050962)	2.60456412
69	detection of light stimulus involved in visual perception (GO:0050908)	2.60456412
70	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.60372288
71	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.59410800
72	recombinational repair (GO:0000725)	2.58115627
73	double-strand break repair via homologous recombination (GO:0000724)	2.57202355
74	photoreceptor cell development (GO:0042461)	2.56651418
75	replication fork processing (GO:0031297)	2.56172233
76	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.55355391
77	mannosylation (GO:0097502)	2.55254435
78	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.54824964
79	regulation of telomere maintenance (GO:0032204)	2.54269954
80	ubiquinone biosynthetic process (GO:0006744)	2.54265971
81	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.54097198
82	sulfation (GO:0051923)	2.54036513
83	cilium assembly (GO:0042384)	2.53944382
84	male meiosis (GO:0007140)	2.52725819
85	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.50218826
86	negative regulation of mast cell activation (GO:0033004)	2.48519606
87	indole-containing compound metabolic process (GO:0042430)	2.48076546
88	renal tubule morphogenesis (GO:0061333)	2.48037060
89	synaptic transmission, cholinergic (GO:0007271)	2.47537219
90	rhodopsin mediated signaling pathway (GO:0016056)	2.46535393
91	ubiquinone metabolic process (GO:0006743)	2.46450103
92	DNA methylation involved in gamete generation (GO:0043046)	2.45733408
93	rRNA catabolic process (GO:0016075)	2.45336694
94	cilium movement (GO:0003341)	2.43551914
95	positive regulation of sodium ion transmembrane transport (GO:1902307)	2.43504467
96	somite development (GO:0061053)	2.43468667
97	regulation of hippo signaling (GO:0035330)	2.43004152
98	spinal cord motor neuron differentiation (GO:0021522)	2.42754322
99	cAMP catabolic process (GO:0006198)	2.42597456
100	reflex (GO:0060004)	2.42299875

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.06639212
2	VDR_22108803_ChIP-Seq_LS180_Human	3.26424480
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.88998863
4	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.78611074
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.69456779
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.66373448
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.36106455
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.33863812
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.23824433
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.23538328
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.23533667
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.19985411
13	EZH2_22144423_ChIP-Seq_EOC_Human	2.18076235
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.10315013
15	FUS_26573619_Chip-Seq_HEK293_Human	2.10136257
16	TAF15_26573619_Chip-Seq_HEK293_Human	2.08314831
17	EWS_26573619_Chip-Seq_HEK293_Human	2.08127108
18	P300_19829295_ChIP-Seq_ESCs_Human	1.98217541
19	ER_23166858_ChIP-Seq_MCF-7_Human	1.89940095
20	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.88568336
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.88293488
22	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.83811530
23	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.80676870
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.74976912
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.72787447
26	BCAT_22108803_ChIP-Seq_LS180_Human	1.72758808
27	IRF1_19129219_ChIP-ChIP_H3396_Human	1.70870976
28	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.69103401
29	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.63338509
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61858890
31	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.55193739
32	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.54453708
33	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.50724520
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50289013
35	MYC_18940864_ChIP-ChIP_HL60_Human	1.49467054
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.48595303
37	STAT3_23295773_ChIP-Seq_U87_Human	1.48251402
38	AR_25329375_ChIP-Seq_VCAP_Human	1.46948405
39	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.44800994
40	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.44175565
41	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.42544853
42	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.42101626
43	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.40802565
44	TCF4_23295773_ChIP-Seq_U87_Human	1.40175553
45	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.39660949
46	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.39409795
47	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.39364949
48	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.39294402
49	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.39294402
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.38496526
51	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.37511312
52	CBP_20019798_ChIP-Seq_JUKART_Human	1.37324740
53	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.37324740
54	REST_21632747_ChIP-Seq_MESCs_Mouse	1.36613906
55	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.36590848
56	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.36227369
57	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.36227369
58	TCF4_22108803_ChIP-Seq_LS180_Human	1.33282563
59	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.30984105
60	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.30885466
61	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30016928
62	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30016928
63	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.29986776
64	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.29980495
65	AR_21572438_ChIP-Seq_LNCaP_Human	1.29968071
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.27548290
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.26010926
68	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.25959951
69	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.24337258
70	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.24001582
71	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.23198880
72	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22592710
73	RNF2_27304074_Chip-Seq_NSC_Mouse	1.21405355
74	RUNX2_22187159_ChIP-Seq_PCA_Human	1.20528543
75	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19334087
76	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.19030642
77	AR_20517297_ChIP-Seq_VCAP_Human	1.18982622
78	ELK1_19687146_ChIP-ChIP_HELA_Human	1.18964723
79	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.17492176
80	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.16181089
81	NCOR_22424771_ChIP-Seq_293T_Human	1.12423220
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12299676
83	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.10934098
84	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.10255041
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08841467
86	HOXB7_26014856_ChIP-Seq_BT474_Human	1.08134560
87	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.07942949
88	P53_22387025_ChIP-Seq_ESCs_Mouse	1.06175260
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.06123877
90	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.05039859
91	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.02352505
92	VDR_23849224_ChIP-Seq_CD4+_Human	1.02204805
93	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.96752554
94	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.94403967
95	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.93097210
96	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.92691742
97	CDX2_22108803_ChIP-Seq_LS180_Human	0.92211174
98	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91984893
99	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.91584398
100	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.90746591

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	3.13817127
2	MP0000569_abnormal_digit_pigmentation	2.99639763
3	MP0008877_abnormal_DNA_methylation	2.82278308
4	MP0005551_abnormal_eye_electrophysiolog	2.52227944
5	MP0002102_abnormal_ear_morphology	2.42565478
6	MP0003136_yellow_coat_color	2.16820927
7	MP0006072_abnormal_retinal_apoptosis	2.14776759
8	MP0003787_abnormal_imprinting	2.08736450
9	MP0004142_abnormal_muscle_tone	2.03146941
10	MP0008872_abnormal_physiological_respon	1.99670527
11	MP0008875_abnormal_xenobiotic_pharmacok	1.98211190
12	MP0009046_muscle_twitch	1.92997930
13	MP0001968_abnormal_touch/_nociception	1.91051007
14	MP0002876_abnormal_thyroid_physiology	1.88598720
15	MP0003880_abnormal_central_pattern	1.88445590
16	MP0000372_irregular_coat_pigmentation	1.88341377
17	MP0004133_heterotaxia	1.85808081
18	MP0009745_abnormal_behavioral_response	1.85589758
19	MP0004885_abnormal_endolymph	1.84639323
20	MP0001986_abnormal_taste_sensitivity	1.83977809
21	MP0000427_abnormal_hair_cycle	1.82885897
22	MP0006292_abnormal_olfactory_placode	1.81790865
23	MP0005174_abnormal_tail_pigmentation	1.79150322
24	MP0005253_abnormal_eye_physiology	1.77556020
25	MP0005084_abnormal_gallbladder_morpholo	1.76324120
26	MP0002837_dystrophic_cardiac_calcinosis	1.74423739
27	MP0005423_abnormal_somatic_nervous	1.73173678
28	MP0004043_abnormal_pH_regulation	1.71288369
29	MP0004147_increased_porphyrin_level	1.68754886
30	MP0002638_abnormal_pupillary_reflex	1.68375325
31	MP0002272_abnormal_nervous_system	1.68090528
32	MP0005645_abnormal_hypothalamus_physiol	1.67687411
33	MP0002938_white_spotting	1.60288000
34	MP0002736_abnormal_nociception_after	1.60056408
35	MP0006276_abnormal_autonomic_nervous	1.57984069
36	MP0004742_abnormal_vestibular_system	1.50399391
37	MP0005646_abnormal_pituitary_gland	1.46455816
38	MP0008058_abnormal_DNA_repair	1.45461618
39	MP0002928_abnormal_bile_duct	1.43988118
40	MP0001485_abnormal_pinna_reflex	1.39472185
41	MP0001529_abnormal_vocalization	1.38860418
42	MP0001486_abnormal_startle_reflex	1.38571751
43	MP0005083_abnormal_biliary_tract	1.37470740
44	MP0002653_abnormal_ependyma_morphology	1.36430097
45	MP0002572_abnormal_emotion/affect_behav	1.34955220
46	MP0005075_abnormal_melanosome_morpholog	1.33450292
47	MP0003646_muscle_fatigue	1.33284477
48	MP0003011_delayed_dark_adaptation	1.30318754
49	MP0001984_abnormal_olfaction	1.28878499
50	MP0002064_seizures	1.27060123
51	MP0001501_abnormal_sleep_pattern	1.23981667
52	MP0003252_abnormal_bile_duct	1.22646261
53	MP0002254_reproductive_system_inflammat	1.21735332
54	MP0000631_abnormal_neuroendocrine_gland	1.21465936
55	MP0008995_early_reproductive_senescence	1.19277531
56	MP0003121_genomic_imprinting	1.16325792
57	MP0003890_abnormal_embryonic-extraembry	1.15039176
58	MP0002277_abnormal_respiratory_mucosa	1.14369699
59	MP0001905_abnormal_dopamine_level	1.13905325
60	MP0002557_abnormal_social/conspecific_i	1.13698778
61	MP0002163_abnormal_gland_morphology	1.13298596
62	MP0002735_abnormal_chemical_nociception	1.12670623
63	MP0001502_abnormal_circadian_rhythm	1.10350661
64	MP0002095_abnormal_skin_pigmentation	1.09613112
65	MP0001324_abnormal_eye_pigmentation	1.09012046
66	MP0002067_abnormal_sensory_capabilities	1.07073145
67	MP0003122_maternal_imprinting	1.06158079
68	MP0010386_abnormal_urinary_bladder	1.05947348
69	MP0001970_abnormal_pain_threshold	1.05848978
70	MP0002063_abnormal_learning/memory/cond	1.05216435
71	MP0000383_abnormal_hair_follicle	1.01662859
72	MP0005379_endocrine/exocrine_gland_phen	1.00462658
73	MP0005195_abnormal_posterior_eye	1.00346468
74	MP0005365_abnormal_bile_salt	0.99950924
75	MP0004924_abnormal_behavior	0.99777588
76	MP0005386_behavior/neurological_phenoty	0.99777588
77	MP0000778_abnormal_nervous_system	0.99091632
78	MP0003283_abnormal_digestive_organ	0.98947900
79	MP0000647_abnormal_sebaceous_gland	0.98633340
80	MP0005377_hearing/vestibular/ear_phenot	0.98551959
81	MP0003878_abnormal_ear_physiology	0.98551959
82	MP0003635_abnormal_synaptic_transmissio	0.98360607
83	MP0005167_abnormal_blood-brain_barrier	0.96941088
84	MP0000015_abnormal_ear_pigmentation	0.95860945
85	MP0002234_abnormal_pharynx_morphology	0.93738843
86	MP0002733_abnormal_thermal_nociception	0.93657221
87	MP0001293_anophthalmia	0.93024681
88	MP0000516_abnormal_urinary_system	0.91584315
89	MP0005367_renal/urinary_system_phenotyp	0.91584315
90	MP0005389_reproductive_system_phenotype	0.91406292
91	MP0001919_abnormal_reproductive_system	0.90959506
92	MP0008961_abnormal_basal_metabolism	0.88763567
93	MP0005085_abnormal_gallbladder_physiolo	0.88120788
94	MP0002693_abnormal_pancreas_physiology	0.87324677
95	MP0003698_abnormal_male_reproductive	0.86873793
96	MP0003718_maternal_effect	0.86702791
97	MP0002160_abnormal_reproductive_system	0.82820473
98	MP0001929_abnormal_gametogenesis	0.82716496
99	MP0002752_abnormal_somatic_nervous	0.81789653
100	MP0000026_abnormal_inner_ear	0.78784174

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.36081934
2	Abnormality of midbrain morphology (HP:0002418)	4.29987194
3	Molar tooth sign on MRI (HP:0002419)	4.29987194
4	Pancreatic fibrosis (HP:0100732)	4.09445041
5	True hermaphroditism (HP:0010459)	4.04472319
6	Nephronophthisis (HP:0000090)	3.79610960
7	Congenital stationary night blindness (HP:0007642)	3.73789480
8	Abnormality of the renal medulla (HP:0100957)	3.34905977
9	Type II lissencephaly (HP:0007260)	3.20720971
10	Abnormality of the renal cortex (HP:0011035)	3.17664290
11	Medial flaring of the eyebrow (HP:0010747)	2.99220148
12	Large for gestational age (HP:0001520)	2.86160378
13	Hyperventilation (HP:0002883)	2.81986688
14	Polydipsia (HP:0001959)	2.81386192
15	Abnormal drinking behavior (HP:0030082)	2.81386192
16	Tubular atrophy (HP:0000092)	2.81116880
17	Cystic liver disease (HP:0006706)	2.78609350
18	Chronic hepatic failure (HP:0100626)	2.74181581
19	Attenuation of retinal blood vessels (HP:0007843)	2.67793656
20	Pendular nystagmus (HP:0012043)	2.62142936
21	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.59202597
22	Abnormality of alanine metabolism (HP:0010916)	2.59202597
23	Hyperalaninemia (HP:0003348)	2.59202597
24	Abnormal rod and cone electroretinograms (HP:0008323)	2.54129281
25	Hypothermia (HP:0002045)	2.51480238
26	Lissencephaly (HP:0001339)	2.49765393
27	Gait imbalance (HP:0002141)	2.47722959
28	Polyuria (HP:0000103)	2.44804452
29	Sclerocornea (HP:0000647)	2.38994950
30	Cerebellar dysplasia (HP:0007033)	2.37379544
31	Anencephaly (HP:0002323)	2.36477361
32	Abnormality of the labia minora (HP:0012880)	2.34686254
33	Congenital, generalized hypertrichosis (HP:0004540)	2.32032000
34	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.27644245
35	Febrile seizures (HP:0002373)	2.26861276
36	Congenital primary aphakia (HP:0007707)	2.26696701
37	Increased CSF lactate (HP:0002490)	2.25814293
38	Furrowed tongue (HP:0000221)	2.23925294
39	Increased corneal curvature (HP:0100692)	2.23493586
40	Keratoconus (HP:0000563)	2.23493586
41	Broad-based gait (HP:0002136)	2.22189736
42	Abolished electroretinogram (ERG) (HP:0000550)	2.20760014
43	Mitochondrial inheritance (HP:0001427)	2.20502109
44	Congenital hepatic fibrosis (HP:0002612)	2.19937741
45	Severe muscular hypotonia (HP:0006829)	2.13039791
46	Inability to walk (HP:0002540)	2.12910119
47	Acute necrotizing encephalopathy (HP:0006965)	2.11395092
48	Nephrogenic diabetes insipidus (HP:0009806)	2.11381642
49	Oligodactyly (hands) (HP:0001180)	2.11259195
50	Renal cortical cysts (HP:0000803)	2.10492128
51	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.09750617
52	Absent/shortened dynein arms (HP:0200106)	2.09750617
53	Decreased central vision (HP:0007663)	2.08003575
54	Gaze-evoked nystagmus (HP:0000640)	2.07282586
55	Abnormality of the pons (HP:0007361)	2.07008307
56	Hemiparesis (HP:0001269)	2.05712619
57	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.04396075
58	Progressive macrocephaly (HP:0004481)	2.02912864
59	Genital tract atresia (HP:0001827)	1.98267009
60	3-Methylglutaconic aciduria (HP:0003535)	1.97375510
61	Protruding tongue (HP:0010808)	1.96991541
62	Progressive inability to walk (HP:0002505)	1.96919963
63	Male pseudohermaphroditism (HP:0000037)	1.96156269
64	Absent speech (HP:0001344)	1.95889659
65	Fair hair (HP:0002286)	1.95774283
66	Pachygyria (HP:0001302)	1.95406347
67	Hypomagnesemia (HP:0002917)	1.95255110
68	Optic disc pallor (HP:0000543)	1.94600917
69	Hypoplasia of the pons (HP:0012110)	1.93188248
70	Vaginal atresia (HP:0000148)	1.91490811
71	Abnormal urine output (HP:0012590)	1.91443163
72	Acute encephalopathy (HP:0006846)	1.91435453
73	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.90638991
74	Postaxial foot polydactyly (HP:0001830)	1.89052570
75	Concave nail (HP:0001598)	1.88291027
76	Patellar aplasia (HP:0006443)	1.86622306
77	Widely spaced teeth (HP:0000687)	1.86602459
78	Optic nerve hypoplasia (HP:0000609)	1.82176132
79	Lipid accumulation in hepatocytes (HP:0006561)	1.81698861
80	Bile duct proliferation (HP:0001408)	1.81074780
81	Abnormal biliary tract physiology (HP:0012439)	1.81074780
82	Hepatocellular necrosis (HP:0001404)	1.79726338
83	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.78519983
84	Abnormal mitochondria in muscle tissue (HP:0008316)	1.74377066
85	Increased hepatocellular lipid droplets (HP:0006565)	1.74150506
86	Methylmalonic acidemia (HP:0002912)	1.74140728
87	Aplasia/Hypoplasia of the patella (HP:0006498)	1.73875638
88	Ketoacidosis (HP:0001993)	1.72858675
89	Increased serum lactate (HP:0002151)	1.72422561
90	Hepatic necrosis (HP:0002605)	1.70678022
91	Dandy-Walker malformation (HP:0001305)	1.70372185
92	Atonic seizures (HP:0010819)	1.70369734
93	Progressive cerebellar ataxia (HP:0002073)	1.70029766
94	Postaxial hand polydactyly (HP:0001162)	1.69869355
95	Tachypnea (HP:0002789)	1.68976487
96	Dialeptic seizures (HP:0011146)	1.68858694
97	Birth length less than 3rd percentile (HP:0003561)	1.68089925
98	Clumsiness (HP:0002312)	1.67697384
99	Poor coordination (HP:0002370)	1.67084162
100	Abnormality of renal excretion (HP:0011036)	1.63588195

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.87521301
2	WNK4	3.24557507
3	ADRBK2	2.84105110
4	BMPR1B	2.79731941
5	PNCK	2.59681031
6	INSRR	2.56213776
7	WNK3	2.51228407
8	GRK1	2.34856333
9	STK39	2.26969363
10	ACVR1B	2.26646699
11	TAOK3	2.25584203
12	OXSR1	2.23022048
13	MAP4K2	2.19826714
14	ZAK	2.08758738
15	TNIK	1.99929478
16	PINK1	1.98904152
17	CAMKK2	1.98416400
18	NUAK1	1.89723407
19	MAPK13	1.84676504
20	CASK	1.71531882
21	TLK1	1.47500200
22	MAP3K4	1.44425235
23	PAK3	1.43589955
24	MAPK15	1.43431776
25	MKNK2	1.34858187
26	TXK	1.33591413
27	CAMK1D	1.32382048
28	FGFR2	1.32265391
29	NEK2	1.31241537
30	DYRK2	1.30011936
31	WEE1	1.19940437
32	MARK1	1.18056922
33	TSSK6	1.17683956
34	BRSK2	1.17585741
35	PRKCG	1.09042410
36	CCNB1	1.03546918
37	PHKG1	1.03081887
38	PHKG2	1.03081887
39	CAMK1G	1.02261118
40	ADRBK1	0.99735231
41	PLK2	0.97226894
42	VRK1	0.95880910
43	TRIM28	0.95806190
44	PRKCE	0.95305946
45	TGFBR1	0.88287527
46	DAPK2	0.88272261
47	NTRK3	0.88049664
48	TAF1	0.83581296
49	MAPKAPK5	0.81964424
50	NLK	0.78457770
51	MUSK	0.78384057
52	PLK3	0.74940336
53	CSNK1G1	0.74067695
54	MAP2K7	0.73692762
55	TIE1	0.72811747
56	MAPKAPK3	0.72676526
57	CSNK1G2	0.72174245
58	PTK2B	0.70781955
59	TEC	0.69784232
60	PKN1	0.68353697
61	CAMK1	0.67843777
62	MST4	0.67329017
63	PRKCI	0.66301394
64	ERBB3	0.63592995
65	BCR	0.61781398
66	PRKCQ	0.58152605
67	MKNK1	0.55756089
68	VRK2	0.55691710
69	EPHA3	0.54621359
70	RPS6KA5	0.53941172
71	IKBKB	0.53884971
72	IRAK1	0.52690326
73	PLK4	0.52395800
74	CSNK1G3	0.52189735
75	NTRK2	0.52174251
76	CHUK	0.51298033
77	STK11	0.49714749
78	EPHA4	0.46896233
79	PRKAA1	0.45172158
80	PIK3CA	0.44471831
81	FER	0.38269636
82	CAMK2A	0.38199583
83	PRKCZ	0.37924046
84	CSNK1A1L	0.37756833
85	PRKAA2	0.37109755
86	STK38L	0.37108055
87	EIF2AK3	0.37031682
88	PRKACA	0.35389847
89	MAP2K6	0.35218414
90	ITK	0.34902231
91	PRKG1	0.33539786
92	CSNK1A1	0.30894128
93	PRKCA	0.30375670
94	BCKDK	0.30055417
95	CSNK1D	0.29870120
96	CDK3	0.29182870
97	EIF2AK2	0.26458703
98	NME1	0.26046324
99	DYRK1A	0.26043828
100	GRK5	0.24964659

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.79672410
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.54495464
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.52707021
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.48701218
5	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.45340505
6	Nitrogen metabolism_Homo sapiens_hsa00910	2.44094067
7	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.42503162
8	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.40117268
9	Butanoate metabolism_Homo sapiens_hsa00650	2.38445262
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.37309572
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.21600427
12	Protein export_Homo sapiens_hsa03060	2.14090695
13	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.11976073
14	Selenocompound metabolism_Homo sapiens_hsa00450	2.09834581
15	Homologous recombination_Homo sapiens_hsa03440	2.07563480
16	Nicotine addiction_Homo sapiens_hsa05033	2.04112771
17	Basal transcription factors_Homo sapiens_hsa03022	2.01771118
18	Caffeine metabolism_Homo sapiens_hsa00232	1.98875288
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.98598480
20	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.95319603
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.86404279
22	Parkinsons disease_Homo sapiens_hsa05012	1.84842537
23	Fanconi anemia pathway_Homo sapiens_hsa03460	1.84155962
24	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.71873188
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.51388330
26	RNA polymerase_Homo sapiens_hsa03020	1.44030296
27	Propanoate metabolism_Homo sapiens_hsa00640	1.40143213
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.36975021
29	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.36873985
30	Taste transduction_Homo sapiens_hsa04742	1.35675111
31	Collecting duct acid secretion_Homo sapiens_hsa04966	1.35206413
32	RNA degradation_Homo sapiens_hsa03018	1.34382924
33	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.25679516
34	Peroxisome_Homo sapiens_hsa04146	1.25153370
35	Olfactory transduction_Homo sapiens_hsa04740	1.23427448
36	Huntingtons disease_Homo sapiens_hsa05016	1.22953624
37	Cardiac muscle contraction_Homo sapiens_hsa04260	1.17059130
38	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.14367993
39	Alzheimers disease_Homo sapiens_hsa05010	1.09811753
40	Morphine addiction_Homo sapiens_hsa05032	1.08293895
41	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.08159649
42	Regulation of autophagy_Homo sapiens_hsa04140	1.05833790
43	Steroid biosynthesis_Homo sapiens_hsa00100	1.00429022
44	One carbon pool by folate_Homo sapiens_hsa00670	1.00284331
45	Insulin secretion_Homo sapiens_hsa04911	0.99253887
46	ABC transporters_Homo sapiens_hsa02010	0.96050212
47	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.95480383
48	Primary immunodeficiency_Homo sapiens_hsa05340	0.93233891
49	Chemical carcinogenesis_Homo sapiens_hsa05204	0.92675078
50	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.92661319
51	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.91689539
52	GABAergic synapse_Homo sapiens_hsa04727	0.86603757
53	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.83621376
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.80316566
55	Glutamatergic synapse_Homo sapiens_hsa04724	0.78400281
56	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.76727126
57	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.75620235
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73339357
59	Retinol metabolism_Homo sapiens_hsa00830	0.72569664
60	beta-Alanine metabolism_Homo sapiens_hsa00410	0.71373992
61	Proteasome_Homo sapiens_hsa03050	0.68716393
62	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.67718226
63	Circadian entrainment_Homo sapiens_hsa04713	0.66731350
64	Sulfur relay system_Homo sapiens_hsa04122	0.66249242
65	Serotonergic synapse_Homo sapiens_hsa04726	0.64388107
66	Fat digestion and absorption_Homo sapiens_hsa04975	0.62728022
67	Metabolic pathways_Homo sapiens_hsa01100	0.62532307
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.62363604
69	Glycerolipid metabolism_Homo sapiens_hsa00561	0.62220452
70	Purine metabolism_Homo sapiens_hsa00230	0.59958379
71	Sulfur metabolism_Homo sapiens_hsa00920	0.57449699
72	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.56441754
73	Mineral absorption_Homo sapiens_hsa04978	0.55648506
74	Non-homologous end-joining_Homo sapiens_hsa03450	0.54724354
75	Circadian rhythm_Homo sapiens_hsa04710	0.54688173
76	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.53190756
77	Calcium signaling pathway_Homo sapiens_hsa04020	0.52149349
78	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.51343363
79	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.48346358
80	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.45727609
81	Salivary secretion_Homo sapiens_hsa04970	0.45446111
82	Histidine metabolism_Homo sapiens_hsa00340	0.43343634
83	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40982131
84	Basal cell carcinoma_Homo sapiens_hsa05217	0.40124782
85	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.39716457
86	Cocaine addiction_Homo sapiens_hsa05030	0.37534334
87	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.37504745
88	Type I diabetes mellitus_Homo sapiens_hsa04940	0.37223009
89	Nucleotide excision repair_Homo sapiens_hsa03420	0.36343155
90	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36306929
91	Dopaminergic synapse_Homo sapiens_hsa04728	0.35666443
92	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.34964039
93	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.34714130
94	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.29955761
95	Rheumatoid arthritis_Homo sapiens_hsa05323	0.27285874
96	Pyrimidine metabolism_Homo sapiens_hsa00240	0.26766804
97	Fatty acid metabolism_Homo sapiens_hsa01212	0.26612263
98	Fatty acid degradation_Homo sapiens_hsa00071	0.26208295
99	Fatty acid elongation_Homo sapiens_hsa00062	0.25840764
100	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.24497509

DDX50P1

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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