ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of meiosis I (GO:0060631)	5.90420780
2	piRNA metabolic process (GO:0034587)	5.66896745
3	meiotic chromosome segregation (GO:0045132)	5.49763860
4	protein K11-linked deubiquitination (GO:0035871)	4.96815655
5	DNA methylation involved in gamete generation (GO:0043046)	4.79232651
6	retinal cone cell development (GO:0046549)	4.75470184
7	behavioral response to nicotine (GO:0035095)	4.32432465
8	fucose catabolic process (GO:0019317)	4.28255843
9	L-fucose metabolic process (GO:0042354)	4.28255843
10	L-fucose catabolic process (GO:0042355)	4.28255843
11	multicellular organism reproduction (GO:0032504)	4.26519957
12	synapsis (GO:0007129)	3.92214324
13	regulation of acrosome reaction (GO:0060046)	3.89984625
14	male meiosis I (GO:0007141)	3.89303708
15	male meiosis (GO:0007140)	3.87776134
16	regulation of female gonad development (GO:2000194)	3.83788053
17	rRNA catabolic process (GO:0016075)	3.76948810
18	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.74279970
19	female gamete generation (GO:0007292)	3.70645092
20	positive regulation of histone H3-K4 methylation (GO:0051571)	3.61943027
21	centriole replication (GO:0007099)	3.55474989
22	photoreceptor cell maintenance (GO:0045494)	3.54421754
23	reciprocal DNA recombination (GO:0035825)	3.49542742
24	reciprocal meiotic recombination (GO:0007131)	3.49542742
25	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.45855967
26	meiosis I (GO:0007127)	3.43822671
27	detection of light stimulus involved in sensory perception (GO:0050962)	3.43233494
28	detection of light stimulus involved in visual perception (GO:0050908)	3.43233494
29	indolalkylamine metabolic process (GO:0006586)	3.39527495
30	indole-containing compound catabolic process (GO:0042436)	3.39169274
31	indolalkylamine catabolic process (GO:0046218)	3.39169274
32	tryptophan catabolic process (GO:0006569)	3.39169274
33	behavioral response to ethanol (GO:0048149)	3.19622183
34	DNA deamination (GO:0045006)	3.18588651
35	meiotic cell cycle (GO:0051321)	3.13339828
36	neural tube formation (GO:0001841)	3.11069865
37	chromosome organization involved in meiosis (GO:0070192)	3.09547798
38	kynurenine metabolic process (GO:0070189)	3.08907706
39	response to pheromone (GO:0019236)	3.08056439
40	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.07802817
41	photoreceptor cell development (GO:0042461)	3.04746541
42	axoneme assembly (GO:0035082)	3.00639085
43	auditory receptor cell stereocilium organization (GO:0060088)	3.00483241
44	tryptophan metabolic process (GO:0006568)	3.00067381
45	histone H3-K4 trimethylation (GO:0080182)	2.96809234
46	gene silencing by RNA (GO:0031047)	2.96016673
47	C-terminal protein lipidation (GO:0006501)	2.94471226
48	cilium morphogenesis (GO:0060271)	2.93896878
49	inner ear receptor stereocilium organization (GO:0060122)	2.93594506
50	epithelial cilium movement (GO:0003351)	2.92472564
51	somite development (GO:0061053)	2.88207813
52	base-excision repair, AP site formation (GO:0006285)	2.86234082
53	interkinetic nuclear migration (GO:0022027)	2.85801871
54	C-terminal protein amino acid modification (GO:0018410)	2.85409022
55	regulation of DNA methylation (GO:0044030)	2.83696929
56	nonmotile primary cilium assembly (GO:0035058)	2.82653211
57	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.81184303
58	protein polyglutamylation (GO:0018095)	2.79293198
59	positive regulation of meiosis (GO:0045836)	2.78688899
60	glycine transport (GO:0015816)	2.78554422
61	meiotic nuclear division (GO:0007126)	2.76834478
62	preassembly of GPI anchor in ER membrane (GO:0016254)	2.72676558
63	snRNA processing (GO:0016180)	2.70260378
64	peptidyl-threonine dephosphorylation (GO:0035970)	2.68022587
65	regulation of cilium movement (GO:0003352)	2.67233222
66	double-strand break repair via homologous recombination (GO:0000724)	2.66752204
67	recombinational repair (GO:0000725)	2.66694419
68	eye photoreceptor cell development (GO:0042462)	2.66313914
69	acrosome assembly (GO:0001675)	2.65598045
70	negative regulation of mast cell activation (GO:0033004)	2.63674396
71	cellular ketone body metabolic process (GO:0046950)	2.63341886
72	positive regulation of defense response to virus by host (GO:0002230)	2.63268756
73	meiotic cell cycle process (GO:1903046)	2.59711244
74	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.58614724
75	positive regulation of meiotic cell cycle (GO:0051446)	2.58356816
76	mismatch repair (GO:0006298)	2.58188573
77	replication fork processing (GO:0031297)	2.57832538
78	cilium or flagellum-dependent cell motility (GO:0001539)	2.56483262
79	establishment of protein localization to Golgi (GO:0072600)	2.56441236
80	platelet dense granule organization (GO:0060155)	2.56296431
81	mannosylation (GO:0097502)	2.55805095
82	sperm-egg recognition (GO:0035036)	2.55753960
83	reproduction (GO:0000003)	2.55710513
84	cAMP catabolic process (GO:0006198)	2.54575701
85	synaptonemal complex organization (GO:0070193)	2.53022694
86	reflex (GO:0060004)	2.53001517
87	DNA methylation or demethylation (GO:0044728)	2.52213973
88	tachykinin receptor signaling pathway (GO:0007217)	2.51669538
89	somite rostral/caudal axis specification (GO:0032525)	2.51534983
90	somatic diversification of immune receptors via somatic mutation (GO:0002566)	2.50608182
91	somatic hypermutation of immunoglobulin genes (GO:0016446)	2.50608182
92	DNA alkylation (GO:0006305)	2.50572460
93	DNA methylation (GO:0006306)	2.50572460
94	translesion synthesis (GO:0019985)	2.49305159
95	synaptonemal complex assembly (GO:0007130)	2.49251008
96	oocyte development (GO:0048599)	2.49068102
97	DNA modification (GO:0006304)	2.48834850
98	protein-cofactor linkage (GO:0018065)	2.47757234
99	postreplication repair (GO:0006301)	2.47247347
100	amine catabolic process (GO:0009310)	2.46316474

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.58737218
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.65892829
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.25708068
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.93779468
5	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.92907039
6	VDR_22108803_ChIP-Seq_LS180_Human	2.62761111
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.54957622
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.49756015
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.32019143
10	EWS_26573619_Chip-Seq_HEK293_Human	2.28471175
11	TAF15_26573619_Chip-Seq_HEK293_Human	2.27536415
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.25026647
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.23809197
14	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21505691
15	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.14322302
16	FUS_26573619_Chip-Seq_HEK293_Human	2.03045531
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.00692747
18	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.00095221
19	P300_19829295_ChIP-Seq_ESCs_Human	1.95118793
20	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.86701548
21	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.83290695
22	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.76859822
23	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.76710540
24	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.72486285
25	CBP_20019798_ChIP-Seq_JUKART_Human	1.72486285
26	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.70313759
27	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.69993208
28	* ER_23166858_ChIP-Seq_MCF-7_Human	1.69513814
29	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.65593831
30	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.64873382
31	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.64015354
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.63342703
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.62089380
34	TCF4_23295773_ChIP-Seq_U87_Human	1.57078303
35	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.56847407
36	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50881591
37	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.48065930
38	STAT3_23295773_ChIP-Seq_U87_Human	1.46974401
39	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.46634592
40	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.46241154
41	TP53_22573176_ChIP-Seq_HFKS_Human	1.45311044
42	* SMAD4_21799915_ChIP-Seq_A2780_Human	1.44575114
43	AR_25329375_ChIP-Seq_VCAP_Human	1.43571173
44	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.42551744
45	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.42551744
46	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.38066773
47	IRF1_19129219_ChIP-ChIP_H3396_Human	1.35335600
48	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.35333656
49	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.34062006
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.33240372
51	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.32716857
52	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.32388764
53	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.31489941
54	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30560761
55	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30466523
56	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30466523
57	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.29405860
58	MYC_18940864_ChIP-ChIP_HL60_Human	1.29309573
59	RUNX2_22187159_ChIP-Seq_PCA_Human	1.27973536
60	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.24379456
61	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.24379456
62	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.22865511
63	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.21105480
64	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20808530
65	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19586928
66	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.19520754
67	REST_21632747_ChIP-Seq_MESCs_Mouse	1.19517269
68	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.18959721
69	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.18925158
70	RNF2_27304074_Chip-Seq_NSC_Mouse	1.18715300
71	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.18159796
72	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.17357819
73	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.17027925
74	CDX2_22108803_ChIP-Seq_LS180_Human	1.16062089
75	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.14262658
76	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.13909374
77	AR_20517297_ChIP-Seq_VCAP_Human	1.13855744
78	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.13651136
79	TCF4_22108803_ChIP-Seq_LS180_Human	1.13282504
80	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.11654412
81	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.10896547
82	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.10814176
83	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10055334
84	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.09001129
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08807960
86	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.07629198
87	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.07028822
88	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.06274820
89	NCOR_22424771_ChIP-Seq_293T_Human	1.06118610
90	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.04182668
91	* HOXB7_26014856_ChIP-Seq_BT474_Human	1.04137277
92	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.02382117
93	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.01409636
94	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.01120870
95	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00005466
96	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.99869016
97	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.99804534
98	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.99289743
99	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.98735608
100	AR_21572438_ChIP-Seq_LNCaP_Human	0.98557391

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.53873076
2	MP0006292_abnormal_olfactory_placode	3.73679962
3	MP0003718_maternal_effect	3.66814714
4	MP0003136_yellow_coat_color	2.58690877
5	MP0003195_calcinosis	2.48916776
6	MP0005551_abnormal_eye_electrophysiolog	2.40753990
7	MP0008789_abnormal_olfactory_epithelium	2.25010852
8	MP0005646_abnormal_pituitary_gland	2.18398839
9	MP0002102_abnormal_ear_morphology	2.09937266
10	MP0000569_abnormal_digit_pigmentation	2.05556151
11	MP0002138_abnormal_hepatobiliary_system	2.02068791
12	MP0006072_abnormal_retinal_apoptosis	2.01370557
13	MP0000631_abnormal_neuroendocrine_gland	1.94167646
14	MP0003880_abnormal_central_pattern	1.91696020
15	MP0000372_irregular_coat_pigmentation	1.90777551
16	MP0003646_muscle_fatigue	1.87819276
17	MP0002234_abnormal_pharynx_morphology	1.81005433
18	MP0001968_abnormal_touch/_nociception	1.78405507
19	MP0009745_abnormal_behavioral_response	1.77059007
20	MP0008872_abnormal_physiological_respon	1.74660725
21	MP0000427_abnormal_hair_cycle	1.70033513
22	MP0005253_abnormal_eye_physiology	1.68076219
23	MP0005394_taste/olfaction_phenotype	1.64719506
24	MP0005499_abnormal_olfactory_system	1.64719506
25	MP0006276_abnormal_autonomic_nervous	1.62054130
26	MP0008058_abnormal_DNA_repair	1.56753876
27	MP0001929_abnormal_gametogenesis	1.56350804
28	MP0004142_abnormal_muscle_tone	1.56154347
29	MP0002210_abnormal_sex_determination	1.54512286
30	MP0002653_abnormal_ependyma_morphology	1.54306607
31	MP0005410_abnormal_fertilization	1.53344799
32	MP0001501_abnormal_sleep_pattern	1.53093198
33	MP0005360_urolithiasis	1.52548306
34	MP0002876_abnormal_thyroid_physiology	1.51986637
35	MP0002928_abnormal_bile_duct	1.51841892
36	MP0002272_abnormal_nervous_system	1.51219858
37	MP0005395_other_phenotype	1.48853240
38	MP0005645_abnormal_hypothalamus_physiol	1.46144462
39	MP0003011_delayed_dark_adaptation	1.43452909
40	MP0005310_abnormal_salivary_gland	1.41802697
41	MP0005085_abnormal_gallbladder_physiolo	1.40429033
42	MP0001986_abnormal_taste_sensitivity	1.38750328
43	MP0005084_abnormal_gallbladder_morpholo	1.37375134
44	MP0003787_abnormal_imprinting	1.37204660
45	MP0009046_muscle_twitch	1.36458651
46	MP0003698_abnormal_male_reproductive	1.31811755
47	MP0002938_white_spotting	1.31220102
48	MP0001984_abnormal_olfaction	1.28068624
49	MP0000383_abnormal_hair_follicle	1.25002132
50	MP0008875_abnormal_xenobiotic_pharmacok	1.24640009
51	MP0000653_abnormal_sex_gland	1.24408805
52	MP0002095_abnormal_skin_pigmentation	1.22876992
53	MP0002736_abnormal_nociception_after	1.22628353
54	MP0005174_abnormal_tail_pigmentation	1.22054805
55	MP0002735_abnormal_chemical_nociception	1.19061703
56	MP0004885_abnormal_endolymph	1.17466588
57	MP0001486_abnormal_startle_reflex	1.15995941
58	MP0002160_abnormal_reproductive_system	1.15557205
59	MP0002837_dystrophic_cardiac_calcinosis	1.13774411
60	MP0002751_abnormal_autonomic_nervous	1.13583802
61	MP0002277_abnormal_respiratory_mucosa	1.12076073
62	MP0002572_abnormal_emotion/affect_behav	1.11581736
63	MP0004742_abnormal_vestibular_system	1.10378958
64	MP0005075_abnormal_melanosome_morpholog	1.06941606
65	MP0004133_heterotaxia	1.05947135
66	MP0002638_abnormal_pupillary_reflex	1.05649533
67	MP0004043_abnormal_pH_regulation	1.04440931
68	MP0001145_abnormal_male_reproductive	1.03974917
69	MP0003890_abnormal_embryonic-extraembry	1.03959872
70	MP0002557_abnormal_social/conspecific_i	1.03179374
71	MP0000015_abnormal_ear_pigmentation	1.03121405
72	MP0003252_abnormal_bile_duct	1.02364535
73	MP0001324_abnormal_eye_pigmentation	0.99962824
74	MP0001529_abnormal_vocalization	0.98402344
75	MP0001485_abnormal_pinna_reflex	0.98240708
76	MP0005389_reproductive_system_phenotype	0.97616045
77	MP0003121_genomic_imprinting	0.97601847
78	MP0003699_abnormal_female_reproductive	0.97065415
79	MP0001119_abnormal_female_reproductive	0.91165807
80	MP0005386_behavior/neurological_phenoty	0.90337086
81	MP0004924_abnormal_behavior	0.90337086
82	MP0001502_abnormal_circadian_rhythm	0.89442741
83	MP0005195_abnormal_posterior_eye	0.88295247
84	MP0002064_seizures	0.87805538
85	MP0000026_abnormal_inner_ear	0.85287041
86	MP0001764_abnormal_homeostasis	0.85130980
87	MP0001970_abnormal_pain_threshold	0.84226343
88	MP0003879_abnormal_hair_cell	0.83552304
89	MP0002161_abnormal_fertility/fecundity	0.82983715
90	MP0000647_abnormal_sebaceous_gland	0.81809807
91	MP0004215_abnormal_myocardial_fiber	0.81144605
92	MP0002067_abnormal_sensory_capabilities	0.80898757
93	MP0004147_increased_porphyrin_level	0.79886635
94	MP0001293_anophthalmia	0.78807512
95	MP0005647_abnormal_sex_gland	0.77899844
96	MP0002733_abnormal_thermal_nociception	0.77869929
97	MP0000049_abnormal_middle_ear	0.76247881
98	MP0000566_synostosis	0.76031443
99	MP0003635_abnormal_synaptic_transmissio	0.75449083
100	MP0008995_early_reproductive_senescence	0.75345028

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.51876520
2	Pancreatic fibrosis (HP:0100732)	4.25500500
3	Molar tooth sign on MRI (HP:0002419)	4.08458466
4	Abnormality of midbrain morphology (HP:0002418)	4.08458466
5	True hermaphroditism (HP:0010459)	3.83476688
6	Bile duct proliferation (HP:0001408)	3.58654976
7	Abnormal biliary tract physiology (HP:0012439)	3.58654976
8	Congenital stationary night blindness (HP:0007642)	3.52667304
9	Abnormality of the renal cortex (HP:0011035)	3.36404415
10	Type II lissencephaly (HP:0007260)	3.32278319
11	Attenuation of retinal blood vessels (HP:0007843)	3.30254965
12	Nephronophthisis (HP:0000090)	3.24204859
13	Abnormality of the renal medulla (HP:0100957)	3.04932478
14	Chronic hepatic failure (HP:0100626)	2.99060016
15	Supernumerary spleens (HP:0009799)	2.86945066
16	Cystic liver disease (HP:0006706)	2.82874786
17	Renal cortical cysts (HP:0000803)	2.80480396
18	Medial flaring of the eyebrow (HP:0010747)	2.76440468
19	Cerebellar dysplasia (HP:0007033)	2.71474670
20	Abnormal rod and cone electroretinograms (HP:0008323)	2.69365302
21	Progressive inability to walk (HP:0002505)	2.67377646
22	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.64685179
23	Decreased circulating renin level (HP:0003351)	2.61765717
24	Abnormality of the labia minora (HP:0012880)	2.52115062
25	Gaze-evoked nystagmus (HP:0000640)	2.51179841
26	Congenital hepatic fibrosis (HP:0002612)	2.44478292
27	Decreased central vision (HP:0007663)	2.44433284
28	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.40467995
29	Hypothermia (HP:0002045)	2.39704019
30	Abolished electroretinogram (ERG) (HP:0000550)	2.39441326
31	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.39084077
32	Oligodactyly (hands) (HP:0001180)	2.36460667
33	Congenital sensorineural hearing impairment (HP:0008527)	2.34648095
34	Sclerocornea (HP:0000647)	2.33614303
35	Hypoplasia of the fovea (HP:0007750)	2.33278583
36	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.33278583
37	Gait imbalance (HP:0002141)	2.32687502
38	Hyperventilation (HP:0002883)	2.31419941
39	Pendular nystagmus (HP:0012043)	2.31401358
40	Bony spicule pigmentary retinopathy (HP:0007737)	2.30288347
41	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.28538465
42	Polydipsia (HP:0001959)	2.27918160
43	Abnormal drinking behavior (HP:0030082)	2.27918160
44	Optic nerve hypoplasia (HP:0000609)	2.27191979
45	Anencephaly (HP:0002323)	2.27007202
46	Inability to walk (HP:0002540)	2.26516922
47	Congenital primary aphakia (HP:0007707)	2.25249671
48	Broad-based gait (HP:0002136)	2.22294035
49	Median cleft lip (HP:0000161)	2.20752290
50	Abnormality of the fovea (HP:0000493)	2.19098669
51	Lissencephaly (HP:0001339)	2.19053147
52	Nephrogenic diabetes insipidus (HP:0009806)	2.16891061
53	Tubular atrophy (HP:0000092)	2.16146994
54	Postaxial foot polydactyly (HP:0001830)	2.14911739
55	Abnormality of the pons (HP:0007361)	2.13493715
56	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.11327586
57	Absent/shortened dynein arms (HP:0200106)	2.09453003
58	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.09453003
59	Thyroid-stimulating hormone excess (HP:0002925)	2.09352396
60	Progressive cerebellar ataxia (HP:0002073)	2.07913492
61	Preaxial hand polydactyly (HP:0001177)	2.06912040
62	Abnormality of macular pigmentation (HP:0008002)	2.06271631
63	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.01287183
64	Abnormality of alanine metabolism (HP:0010916)	2.01287183
65	Hyperalaninemia (HP:0003348)	2.01287183
66	Azoospermia (HP:0000027)	2.00985010
67	Genital tract atresia (HP:0001827)	2.00615601
68	Septo-optic dysplasia (HP:0100842)	1.99724421
69	Furrowed tongue (HP:0000221)	1.95197078
70	Retinitis pigmentosa (HP:0000510)	1.95195387
71	Male pseudohermaphroditism (HP:0000037)	1.95180701
72	Short tibia (HP:0005736)	1.91243589
73	Impulsivity (HP:0100710)	1.90768646
74	Hypoplasia of the uterus (HP:0000013)	1.89050257
75	Hypoplasia of the pons (HP:0012110)	1.87866753
76	Pachygyria (HP:0001302)	1.87455347
77	Pigmentary retinal degeneration (HP:0001146)	1.85081646
78	Intestinal atresia (HP:0011100)	1.84807008
79	Abnormality of the ileum (HP:0001549)	1.84052973
80	Stomach cancer (HP:0012126)	1.81997302
81	Polyuria (HP:0000103)	1.81817985
82	Vaginal atresia (HP:0000148)	1.78573095
83	Meckel diverticulum (HP:0002245)	1.78453048
84	Dandy-Walker malformation (HP:0001305)	1.75866636
85	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	1.75811951
86	Fair hair (HP:0002286)	1.75557485
87	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.75516737
88	Photophobia (HP:0000613)	1.75503757
89	Chromsome breakage (HP:0040012)	1.73689480
90	Aplasia/hypoplasia of the uterus (HP:0008684)	1.73253358
91	Clubbing of toes (HP:0100760)	1.72852392
92	Retinal dysplasia (HP:0007973)	1.72565092
93	Chorioretinal atrophy (HP:0000533)	1.72254853
94	Astigmatism (HP:0000483)	1.72060481
95	Postaxial hand polydactyly (HP:0001162)	1.70414523
96	Abnormality of DNA repair (HP:0003254)	1.69261393
97	Patellar aplasia (HP:0006443)	1.68927558
98	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.67829456
99	3-Methylglutaconic aciduria (HP:0003535)	1.67672362
100	Large for gestational age (HP:0001520)	1.67662369

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.40658182
2	ZAK	2.92849393
3	BMPR1B	2.71067260
4	ADRBK2	2.62425510
5	GRK1	2.47459585
6	WNK3	2.41320743
7	NUAK1	2.41138822
8	MAPK13	2.30752541
9	TAOK3	2.30742509
10	PINK1	2.24909785
11	TLK1	2.06614934
12	INSRR	2.02884580
13	MAP4K2	1.92771798
14	PNCK	1.80548324
15	BLK	1.77537939
16	OXSR1	1.71421138
17	ACVR1B	1.64009575
18	STK39	1.56820219
19	TNIK	1.51959730
20	MAP3K9	1.48261202
21	CAMKK2	1.46353653
22	CASK	1.45256997
23	TNK2	1.43814588
24	EIF2AK3	1.39527636
25	MAP3K4	1.33851398
26	STK38L	1.31831278
27	WNK4	1.28913871
28	NTRK2	1.25406103
29	NTRK3	1.24874276
30	TXK	1.21662324
31	BRSK2	1.15729043
32	TRIM28	1.09030217
33	MKNK2	0.98155130
34	CAMK1G	0.97969564
35	CAMK1D	0.96813374
36	PRKCE	0.95672498
37	STK3	0.94802031
38	EPHA4	0.94705648
39	DAPK2	0.94499785
40	DYRK2	0.94491559
41	ADRBK1	0.91304489
42	VRK1	0.89966829
43	PKN1	0.83643972
44	MAPKAPK3	0.80856033
45	MARK1	0.79511985
46	MAPKAPK5	0.79302765
47	IRAK1	0.79048395
48	MST4	0.77118885
49	ERBB3	0.76440543
50	STK16	0.75524563
51	PRKCI	0.74252858
52	CDK19	0.73415368
53	WEE1	0.72305870
54	PLK2	0.71831788
55	PLK1	0.68192950
56	PLK3	0.68042006
57	EPHA3	0.67573892
58	IKBKB	0.67025760
59	PRKCQ	0.66969148
60	TEC	0.65516778
61	PRKCG	0.63347054
62	MAP2K6	0.62859850
63	LATS1	0.61171983
64	PLK4	0.60808758
65	CAMK4	0.60607031
66	MARK3	0.56540962
67	CAMK2A	0.55703416
68	TGFBR1	0.55694297
69	FER	0.55246649
70	CDK9	0.54000652
71	PTK2B	0.53842328
72	ATR	0.53096067
73	PRKCZ	0.52985544
74	CAMK1	0.52787860
75	FGFR2	0.51776044
76	TIE1	0.50062662
77	CHUK	0.49397230
78	BCKDK	0.48019011
79	PDK1	0.46555763
80	PAK3	0.45457822
81	RPS6KA5	0.45399159
82	PRKD3	0.44815109
83	NEK2	0.44020464
84	KIT	0.42729711
85	PRKACA	0.42163332
86	CSNK1G1	0.41853899
87	PIM1	0.40086679
88	STK11	0.39250560
89	CHEK2	0.39233639
90	BCR	0.39193575
91	ATM	0.39093634
92	CSNK1E	0.38537765
93	RPS6KA4	0.38381145
94	CSNK1D	0.37830833
95	PRKAA2	0.37776122
96	MAP2K7	0.37552492
97	PRKG1	0.36597397
98	CSNK1G3	0.35994961
99	CSNK1G2	0.35504408
100	NEK6	0.34815124

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	3.10940778
2	Basal transcription factors_Homo sapiens_hsa03022	2.81658661
3	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.79022474
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.67432674
5	Caffeine metabolism_Homo sapiens_hsa00232	2.67178723
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.47135262
7	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.40547267
8	Regulation of autophagy_Homo sapiens_hsa04140	2.29860663
9	Butanoate metabolism_Homo sapiens_hsa00650	2.25537024
10	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23829080
11	Homologous recombination_Homo sapiens_hsa03440	2.12215030
12	Fanconi anemia pathway_Homo sapiens_hsa03460	2.10371028
13	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.01147198
14	Nicotine addiction_Homo sapiens_hsa05033	2.00592566
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.94782540
16	Ether lipid metabolism_Homo sapiens_hsa00565	1.85100602
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.79192616
18	Nitrogen metabolism_Homo sapiens_hsa00910	1.78311360
19	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.78271993
20	RNA degradation_Homo sapiens_hsa03018	1.77204465
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.76012269
22	Olfactory transduction_Homo sapiens_hsa04740	1.71896239
23	Taste transduction_Homo sapiens_hsa04742	1.66858840
24	Tryptophan metabolism_Homo sapiens_hsa00380	1.57876087
25	RNA polymerase_Homo sapiens_hsa03020	1.51533125
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.51016269
27	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.44438055
28	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.40103154
29	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.35057522
30	Morphine addiction_Homo sapiens_hsa05032	1.28009658
31	Circadian rhythm_Homo sapiens_hsa04710	1.26529104
32	One carbon pool by folate_Homo sapiens_hsa00670	1.11875080
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.06757849
34	Base excision repair_Homo sapiens_hsa03410	1.06485833
35	Protein export_Homo sapiens_hsa03060	1.06064539
36	Mismatch repair_Homo sapiens_hsa03430	1.04873528
37	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.04365324
38	ABC transporters_Homo sapiens_hsa02010	1.01880606
39	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.99084482
40	* Propanoate metabolism_Homo sapiens_hsa00640	0.94674475
41	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.94450795
42	Serotonergic synapse_Homo sapiens_hsa04726	0.93746680
43	GABAergic synapse_Homo sapiens_hsa04727	0.93301234
44	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.90499612
45	Steroid biosynthesis_Homo sapiens_hsa00100	0.87871445
46	Retinol metabolism_Homo sapiens_hsa00830	0.86389884
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.86274547
48	Peroxisome_Homo sapiens_hsa04146	0.86247901
49	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.85357560
50	Circadian entrainment_Homo sapiens_hsa04713	0.85263474
51	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.83313769
52	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.83259862
53	Glutamatergic synapse_Homo sapiens_hsa04724	0.81531736
54	RNA transport_Homo sapiens_hsa03013	0.80841822
55	Oxidative phosphorylation_Homo sapiens_hsa00190	0.78083378
56	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.77230331
57	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.76803589
58	Non-homologous end-joining_Homo sapiens_hsa03450	0.75550166
59	Insulin secretion_Homo sapiens_hsa04911	0.71090129
60	Histidine metabolism_Homo sapiens_hsa00340	0.70459702
61	Mineral absorption_Homo sapiens_hsa04978	0.69377112
62	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.69254368
63	Parkinsons disease_Homo sapiens_hsa05012	0.68762189
64	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.68083899
65	beta-Alanine metabolism_Homo sapiens_hsa00410	0.68066346
66	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.67060652
67	Nucleotide excision repair_Homo sapiens_hsa03420	0.65998801
68	Calcium signaling pathway_Homo sapiens_hsa04020	0.64271387
69	Glycerolipid metabolism_Homo sapiens_hsa00561	0.64187921
70	Lysine degradation_Homo sapiens_hsa00310	0.63004637
71	Purine metabolism_Homo sapiens_hsa00230	0.61751019
72	Oocyte meiosis_Homo sapiens_hsa04114	0.61224194
73	Huntingtons disease_Homo sapiens_hsa05016	0.59276643
74	Cell cycle_Homo sapiens_hsa04110	0.58771419
75	Fat digestion and absorption_Homo sapiens_hsa04975	0.58764246
76	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.56047730
77	p53 signaling pathway_Homo sapiens_hsa04115	0.55946620
78	Salivary secretion_Homo sapiens_hsa04970	0.54485319
79	Primary immunodeficiency_Homo sapiens_hsa05340	0.52853639
80	Sulfur metabolism_Homo sapiens_hsa00920	0.52610695
81	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.51864828
82	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.51437830
83	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.50688480
84	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.50195865
85	Fatty acid degradation_Homo sapiens_hsa00071	0.49717277
86	* Metabolic pathways_Homo sapiens_hsa01100	0.48856156
87	Long-term depression_Homo sapiens_hsa04730	0.47377630
88	Dopaminergic synapse_Homo sapiens_hsa04728	0.46898219
89	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.46371352
90	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.43977125
91	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.41169403
92	Fatty acid metabolism_Homo sapiens_hsa01212	0.39079392
93	Arginine and proline metabolism_Homo sapiens_hsa00330	0.38737802
94	* Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.38381385
95	Sulfur relay system_Homo sapiens_hsa04122	0.38292397
96	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.37397666
97	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.37120188
98	Sphingolipid metabolism_Homo sapiens_hsa00600	0.35785139
99	Asthma_Homo sapiens_hsa05310	0.33983478
100	Cardiac muscle contraction_Homo sapiens_hsa04260	0.33870362

LDHAL6A

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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