ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	7.22840598
2	regulation of retinoic acid receptor signaling pathway (GO:0048385)	6.24120894
3	protein complex biogenesis (GO:0070271)	4.30392939
4	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.22670168
5	NADH dehydrogenase complex assembly (GO:0010257)	4.22670168
6	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.22670168
7	mitochondrial respiratory chain complex assembly (GO:0033108)	4.06570476
8	respiratory chain complex IV assembly (GO:0008535)	3.88144279
9	proteasome assembly (GO:0043248)	3.69970652
10	behavioral response to nicotine (GO:0035095)	3.57900198
11	cytochrome complex assembly (GO:0017004)	3.52542026
12	protein-cofactor linkage (GO:0018065)	3.46351705
13	chaperone-mediated protein transport (GO:0072321)	3.36595035
14	pseudouridine synthesis (GO:0001522)	3.34648224
15	water-soluble vitamin biosynthetic process (GO:0042364)	3.33614961
16	replication fork processing (GO:0031297)	3.28915879
17	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.26536143
18	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.25215073
19	DNA replication checkpoint (GO:0000076)	3.24528375
20	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.20082135
21	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.19914472
22	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.18606554
23	DNA deamination (GO:0045006)	3.15104320
24	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.14481779
25	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.14481779
26	L-fucose catabolic process (GO:0042355)	3.13307059
27	fucose catabolic process (GO:0019317)	3.13307059
28	L-fucose metabolic process (GO:0042354)	3.13307059
29	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.12705823
30	termination of RNA polymerase III transcription (GO:0006386)	3.12705823
31	male meiosis I (GO:0007141)	3.04641379
32	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.98148278
33	maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)	2.98032818
34	nonmotile primary cilium assembly (GO:0035058)	2.93576687
35	indolalkylamine metabolic process (GO:0006586)	2.91443320
36	reciprocal DNA recombination (GO:0035825)	2.89519228
37	reciprocal meiotic recombination (GO:0007131)	2.89519228
38	mitochondrial RNA metabolic process (GO:0000959)	2.84904251
39	tRNA processing (GO:0008033)	2.84310537
40	recombinational repair (GO:0000725)	2.84023878
41	kynurenine metabolic process (GO:0070189)	2.83976157
42	mannosylation (GO:0097502)	2.80998395
43	double-strand break repair via homologous recombination (GO:0000724)	2.80979993
44	regulation of cilium movement (GO:0003352)	2.80596575
45	tryptophan catabolic process (GO:0006569)	2.79360887
46	indole-containing compound catabolic process (GO:0042436)	2.79360887
47	indolalkylamine catabolic process (GO:0046218)	2.79360887
48	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.79353701
49	cellular ketone body metabolic process (GO:0046950)	2.76065463
50	protein K6-linked ubiquitination (GO:0085020)	2.75935352
51	peptidyl-histidine modification (GO:0018202)	2.75701438
52	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.72896904
53	electron transport chain (GO:0022900)	2.70653553
54	maturation of 5.8S rRNA (GO:0000460)	2.68811964
55	rRNA modification (GO:0000154)	2.68144266
56	respiratory electron transport chain (GO:0022904)	2.67982407
57	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.66756773
58	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.61867222
59	ATP synthesis coupled proton transport (GO:0015986)	2.61867222
60	protein deneddylation (GO:0000338)	2.60122687
61	L-methionine salvage (GO:0071267)	2.60060830
62	L-methionine biosynthetic process (GO:0071265)	2.60060830
63	amino acid salvage (GO:0043102)	2.60060830
64	meiosis I (GO:0007127)	2.59026483
65	pyrimidine nucleotide catabolic process (GO:0006244)	2.58902549
66	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.56280774
67	preassembly of GPI anchor in ER membrane (GO:0016254)	2.56082643
68	DNA double-strand break processing (GO:0000729)	2.56046659
69	regulation of mitochondrial translation (GO:0070129)	2.55117675
70	resolution of meiotic recombination intermediates (GO:0000712)	2.55004195
71	protein polyglutamylation (GO:0018095)	2.54418709
72	transcription from mitochondrial promoter (GO:0006390)	2.53838695
73	aggressive behavior (GO:0002118)	2.51351469
74	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.51115066
75	regulation of mitotic spindle checkpoint (GO:1903504)	2.51115066
76	epithelial cilium movement (GO:0003351)	2.50867550
77	postreplication repair (GO:0006301)	2.49232584
78	translesion synthesis (GO:0019985)	2.48959642
79	cullin deneddylation (GO:0010388)	2.48953010
80	photoreceptor cell maintenance (GO:0045494)	2.47140440
81	nucleotide-excision repair, DNA gap filling (GO:0006297)	2.46449598
82	base-excision repair, AP site formation (GO:0006285)	2.46108352
83	rRNA catabolic process (GO:0016075)	2.45496543
84	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.45203984
85	retinal cone cell development (GO:0046549)	2.44763248
86	synapsis (GO:0007129)	2.44391334
87	ketone body metabolic process (GO:1902224)	2.44104845
88	platelet dense granule organization (GO:0060155)	2.43996774
89	multicellular organism reproduction (GO:0032504)	2.43578488
90	meiotic chromosome segregation (GO:0045132)	2.42809627
91	positive regulation of prostaglandin secretion (GO:0032308)	2.41960401
92	tryptophan metabolic process (GO:0006568)	2.40719687
93	tRNA modification (GO:0006400)	2.39061853
94	negative regulation of telomere maintenance (GO:0032205)	2.38902955
95	DNA damage response, detection of DNA damage (GO:0042769)	2.38230474
96	detection of light stimulus involved in visual perception (GO:0050908)	2.35523821
97	detection of light stimulus involved in sensory perception (GO:0050962)	2.35523821
98	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.34458606
99	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.33437560
100	piRNA metabolic process (GO:0034587)	2.32893398

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.69398813
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.61734037
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.24566963
4	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.09194701
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.02604064
6	VDR_22108803_ChIP-Seq_LS180_Human	3.02198394
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.95597557
8	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.78516451
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.54941853
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.41398105
11	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.31164507
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.23640377
13	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.23286286
14	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.20761347
15	IGF1R_20145208_ChIP-Seq_DFB_Human	2.19061919
16	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.18922646
17	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.16682110
18	EWS_26573619_Chip-Seq_HEK293_Human	2.02237951
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.98351341
20	E2F7_22180533_ChIP-Seq_HELA_Human	1.96531540
21	ELK1_19687146_ChIP-ChIP_HELA_Human	1.95443540
22	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.94977313
23	VDR_23849224_ChIP-Seq_CD4+_Human	1.94523115
24	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.93277779
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.89155585
26	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.84098083
27	FUS_26573619_Chip-Seq_HEK293_Human	1.82965752
28	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.78667810
29	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.78478347
30	IRF1_19129219_ChIP-ChIP_H3396_Human	1.74549660
31	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.73093652
32	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.69764884
33	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.67305693
34	P300_19829295_ChIP-Seq_ESCs_Human	1.64815657
35	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.63915090
36	TAF15_26573619_Chip-Seq_HEK293_Human	1.63373781
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.53781227
38	TP53_22573176_ChIP-Seq_HFKS_Human	1.53011219
39	FOXP3_21729870_ChIP-Seq_TREG_Human	1.51808757
40	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.51799227
41	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.49906754
42	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.43855509
43	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.42877888
44	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.38876338
45	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.38186020
46	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.35957439
47	ER_23166858_ChIP-Seq_MCF-7_Human	1.32925428
48	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.31916816
49	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.27693846
50	CBP_20019798_ChIP-Seq_JUKART_Human	1.26949017
51	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.26949017
52	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.25976876
53	GABP_19822575_ChIP-Seq_HepG2_Human	1.24231210
54	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.22624413
55	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.21849161
56	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.19953095
57	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.19661757
58	SMAD4_21799915_ChIP-Seq_A2780_Human	1.17226027
59	RNF2_27304074_Chip-Seq_NSC_Mouse	1.16878466
60	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.15472074
61	STAT3_23295773_ChIP-Seq_U87_Human	1.13916644
62	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.12735581
63	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.12409182
64	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.12174927
65	TTF2_22483619_ChIP-Seq_HELA_Human	1.11284978
66	AR_25329375_ChIP-Seq_VCAP_Human	1.09430329
67	SOX2_19829295_ChIP-Seq_ESCs_Human	1.09284393
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.09284393
69	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.09104459
70	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.08286497
71	NCOR_22424771_ChIP-Seq_293T_Human	1.08197372
72	REST_21632747_ChIP-Seq_MESCs_Mouse	1.06837968
73	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.06622349
74	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.06622349
75	TCF4_23295773_ChIP-Seq_U87_Human	1.04878516
76	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.04690582
77	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.02488228
78	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.02042291
79	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.01953853
80	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.01904007
81	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.00669578
82	TCF4_22108803_ChIP-Seq_LS180_Human	1.00028713
83	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.98685886
84	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.98685886
85	ELF1_17652178_ChIP-ChIP_JURKAT_Human	0.98363324
86	MYC_18555785_ChIP-Seq_MESCs_Mouse	0.96700718
87	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.96174142
88	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.95242000
89	BCAT_22108803_ChIP-Seq_LS180_Human	0.95075298
90	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	0.94706417
91	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.93952011
92	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.93499070
93	AR_20517297_ChIP-Seq_VCAP_Human	0.92492020
94	DCP1A_22483619_ChIP-Seq_HELA_Human	0.92447378
95	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.91605107
96	RUNX2_22187159_ChIP-Seq_PCA_Human	0.91210152
97	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.90970689
98	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.90206711
99	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.89900776
100	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.88796580

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	3.30312290
2	MP0008877_abnormal_DNA_methylation	2.92214810
3	MP0008058_abnormal_DNA_repair	2.52792157
4	MP0002102_abnormal_ear_morphology	2.49260746
5	MP0003880_abnormal_central_pattern	2.26271670
6	MP0001968_abnormal_touch/_nociception	2.23750010
7	MP0009046_muscle_twitch	2.16310842
8	MP0003195_calcinosis	2.14877712
9	MP0003718_maternal_effect	2.05341411
10	MP0002736_abnormal_nociception_after	2.04408950
11	MP0005551_abnormal_eye_electrophysiolog	2.02906222
12	MP0010094_abnormal_chromosome_stability	2.01346887
13	MP0006276_abnormal_autonomic_nervous	1.98042729
14	MP0000372_irregular_coat_pigmentation	1.89024963
15	MP0001529_abnormal_vocalization	1.86144774
16	MP0000569_abnormal_digit_pigmentation	1.85040565
17	MP0005646_abnormal_pituitary_gland	1.80342974
18	MP0002938_white_spotting	1.79593870
19	MP0001986_abnormal_taste_sensitivity	1.77504724
20	MP0009745_abnormal_behavioral_response	1.73837644
21	MP0006072_abnormal_retinal_apoptosis	1.72087814
22	MP0003787_abnormal_imprinting	1.69418691
23	MP0005423_abnormal_somatic_nervous	1.65847494
24	MP0002653_abnormal_ependyma_morphology	1.59226571
25	MP0008057_abnormal_DNA_replication	1.57804712
26	MP0003693_abnormal_embryo_hatching	1.55890990
27	MP0002234_abnormal_pharynx_morphology	1.55001113
28	MP0002163_abnormal_gland_morphology	1.54675954
29	MP0002272_abnormal_nervous_system	1.52204850
30	MP0004147_increased_porphyrin_level	1.51575264
31	MP0004142_abnormal_muscle_tone	1.47951820
32	MP0000631_abnormal_neuroendocrine_gland	1.45410356
33	MP0003136_yellow_coat_color	1.44343243
34	MP0001984_abnormal_olfaction	1.43605276
35	MP0002160_abnormal_reproductive_system	1.40668364
36	MP0008789_abnormal_olfactory_epithelium	1.40580977
37	MP0005253_abnormal_eye_physiology	1.40443187
38	MP0008872_abnormal_physiological_respon	1.39446599
39	MP0002735_abnormal_chemical_nociception	1.37837349
40	MP0002837_dystrophic_cardiac_calcinosis	1.34286701
41	MP0001486_abnormal_startle_reflex	1.33701469
42	MP0002572_abnormal_emotion/affect_behav	1.31982390
43	MP0001485_abnormal_pinna_reflex	1.31443581
44	MP0003119_abnormal_digestive_system	1.31271853
45	MP0003786_premature_aging	1.29785188
46	MP0001293_anophthalmia	1.29635695
47	MP0005645_abnormal_hypothalamus_physiol	1.29571716
48	MP0002210_abnormal_sex_determination	1.28425126
49	MP0001929_abnormal_gametogenesis	1.27185557
50	MP0003890_abnormal_embryonic-extraembry	1.26298995
51	MP0001905_abnormal_dopamine_level	1.25483247
52	MP0002734_abnormal_mechanical_nocicepti	1.24407823
53	MP0002557_abnormal_social/conspecific_i	1.23407425
54	MP0008995_early_reproductive_senescence	1.17892303
55	MP0006035_abnormal_mitochondrial_morpho	1.16834457
56	MP0005499_abnormal_olfactory_system	1.16142512
57	MP0005394_taste/olfaction_phenotype	1.16142512
58	MP0002064_seizures	1.16028097
59	MP0009697_abnormal_copulation	1.14096022
60	MP0002733_abnormal_thermal_nociception	1.13917842
61	MP0002067_abnormal_sensory_capabilities	1.13424556
62	MP0004133_heterotaxia	1.12465135
63	MP0008875_abnormal_xenobiotic_pharmacok	1.11712136
64	MP0003937_abnormal_limbs/digits/tail_de	1.10551271
65	MP0003698_abnormal_male_reproductive	1.09944641
66	MP0005379_endocrine/exocrine_gland_phen	1.09577859
67	MP0000647_abnormal_sebaceous_gland	1.08284390
68	MP0003646_muscle_fatigue	1.07147045
69	MP0003121_genomic_imprinting	1.05370109
70	MP0001501_abnormal_sleep_pattern	1.04999866
71	MP0000427_abnormal_hair_cycle	1.04313382
72	MP0003635_abnormal_synaptic_transmissio	1.04045025
73	MP0001970_abnormal_pain_threshold	1.03240243
74	MP0006036_abnormal_mitochondrial_physio	1.02812512
75	MP0005410_abnormal_fertilization	1.02702807
76	MP0000653_abnormal_sex_gland	1.01983844
77	MP0004145_abnormal_muscle_electrophysio	1.01410804
78	MP0000049_abnormal_middle_ear	1.01269280
79	MP0000778_abnormal_nervous_system	0.99522259
80	MP0002638_abnormal_pupillary_reflex	0.98132654
81	MP0005389_reproductive_system_phenotype	0.96619667
82	MP0004742_abnormal_vestibular_system	0.96460803
83	MP0001145_abnormal_male_reproductive	0.96344651
84	MP0002751_abnormal_autonomic_nervous	0.95017552
85	MP0002184_abnormal_innervation	0.93988416
86	MP0008932_abnormal_embryonic_tissue	0.92865050
87	MP0003950_abnormal_plasma_membrane	0.92370392
88	MP0005386_behavior/neurological_phenoty	0.89792909
89	MP0004924_abnormal_behavior	0.89792909
90	MP0001764_abnormal_homeostasis	0.89721719
91	MP0002095_abnormal_skin_pigmentation	0.88821690
92	MP0005084_abnormal_gallbladder_morpholo	0.87672137
93	MP0003077_abnormal_cell_cycle	0.86438305
94	MP0002752_abnormal_somatic_nervous	0.85428677
95	MP0005195_abnormal_posterior_eye	0.85227568
96	MP0008775_abnormal_heart_ventricle	0.83927751
97	MP0001963_abnormal_hearing_physiology	0.82999493
98	MP0005174_abnormal_tail_pigmentation	0.82488045
99	MP0004885_abnormal_endolymph	0.82451675
100	MP0003111_abnormal_nucleus_morphology	0.82359928

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.89670838
2	Pancreatic fibrosis (HP:0100732)	3.54728829
3	Molar tooth sign on MRI (HP:0002419)	3.45438244
4	Abnormality of midbrain morphology (HP:0002418)	3.45438244
5	True hermaphroditism (HP:0010459)	3.33428900
6	Acute necrotizing encephalopathy (HP:0006965)	3.17669080
7	Medial flaring of the eyebrow (HP:0010747)	3.07281239
8	Abnormality of alanine metabolism (HP:0010916)	3.06613490
9	Hyperalaninemia (HP:0003348)	3.06613490
10	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	3.06613490
11	Mitochondrial inheritance (HP:0001427)	3.04386020
12	Increased CSF lactate (HP:0002490)	3.02944212
13	Abnormal mitochondria in muscle tissue (HP:0008316)	2.99475080
14	Nephronophthisis (HP:0000090)	2.95434424
15	Acute encephalopathy (HP:0006846)	2.77210952
16	Birth length less than 3rd percentile (HP:0003561)	2.75469246
17	Congenital stationary night blindness (HP:0007642)	2.73502641
18	Hepatocellular necrosis (HP:0001404)	2.73481899
19	Type II lissencephaly (HP:0007260)	2.71497592
20	Hepatic necrosis (HP:0002605)	2.66089506
21	Progressive macrocephaly (HP:0004481)	2.65470096
22	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.62819062
23	Gait imbalance (HP:0002141)	2.60786033
24	Congenital primary aphakia (HP:0007707)	2.58310087
25	3-Methylglutaconic aciduria (HP:0003535)	2.55858815
26	Abnormality of the renal medulla (HP:0100957)	2.49315212
27	Abnormality of the renal cortex (HP:0011035)	2.47064441
28	Methylmalonic aciduria (HP:0012120)	2.45574756
29	Increased serum lactate (HP:0002151)	2.43139753
30	Abnormal rod and cone electroretinograms (HP:0008323)	2.42369820
31	Pendular nystagmus (HP:0012043)	2.42269689
32	Methylmalonic acidemia (HP:0002912)	2.40922747
33	Nephrogenic diabetes insipidus (HP:0009806)	2.40561520
34	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.39160964
35	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.37499047
36	Attenuation of retinal blood vessels (HP:0007843)	2.31380031
37	Sclerocornea (HP:0000647)	2.30448121
38	Progressive inability to walk (HP:0002505)	2.28811507
39	Genital tract atresia (HP:0001827)	2.25077702
40	Short tibia (HP:0005736)	2.22648019
41	Retinal dysplasia (HP:0007973)	2.22216261
42	Concave nail (HP:0001598)	2.19432309
43	Hyperventilation (HP:0002883)	2.17348364
44	Lissencephaly (HP:0001339)	2.17033842
45	Vaginal atresia (HP:0000148)	2.15824583
46	Abolished electroretinogram (ERG) (HP:0000550)	2.13367080
47	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.12972270
48	Renal cortical cysts (HP:0000803)	2.12758811
49	Chromsome breakage (HP:0040012)	2.12375584
50	Focal motor seizures (HP:0011153)	2.11937864
51	Inability to walk (HP:0002540)	2.10171415
52	Lactic acidosis (HP:0003128)	2.09839096
53	Meckel diverticulum (HP:0002245)	2.08540749
54	Cerebellar dysplasia (HP:0007033)	2.07791316
55	Colon cancer (HP:0003003)	2.06649549
56	Cystic liver disease (HP:0006706)	2.06181910
57	Abnormality of the labia minora (HP:0012880)	2.04984388
58	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.04391211
59	Abnormality of the ileum (HP:0001549)	2.03914395
60	Anencephaly (HP:0002323)	2.03457394
61	Lipid accumulation in hepatocytes (HP:0006561)	2.00356250
62	Decreased central vision (HP:0007663)	2.00329714
63	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.99397649
64	Optic nerve hypoplasia (HP:0000609)	1.99031913
65	Abnormality of the pons (HP:0007361)	1.98569335
66	Increased hepatocellular lipid droplets (HP:0006565)	1.97520818
67	Broad-based gait (HP:0002136)	1.96430999
68	Hypothermia (HP:0002045)	1.95796081
69	Gaze-evoked nystagmus (HP:0000640)	1.93142105
70	Aplasia/Hypoplasia of the patella (HP:0006498)	1.92473467
71	Occipital encephalocele (HP:0002085)	1.91790864
72	Optic disc pallor (HP:0000543)	1.91350612
73	Bony spicule pigmentary retinopathy (HP:0007737)	1.90884715
74	Patellar aplasia (HP:0006443)	1.90654906
75	Dialeptic seizures (HP:0011146)	1.89736260
76	Abnormal protein glycosylation (HP:0012346)	1.89124030
77	Abnormal glycosylation (HP:0012345)	1.89124030
78	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.89124030
79	Abnormal protein N-linked glycosylation (HP:0012347)	1.89124030
80	Type I transferrin isoform profile (HP:0003642)	1.88264842
81	Postaxial foot polydactyly (HP:0001830)	1.87750866
82	Hypoplasia of the pons (HP:0012110)	1.87550905
83	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.87254933
84	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.87254933
85	Chronic hepatic failure (HP:0100626)	1.86915507
86	Severe muscular hypotonia (HP:0006829)	1.86727337
87	Preaxial hand polydactyly (HP:0001177)	1.86289737
88	Cerebral edema (HP:0002181)	1.85959909
89	Tubular atrophy (HP:0000092)	1.85664868
90	Congenital hepatic fibrosis (HP:0002612)	1.85641345
91	Progressive microcephaly (HP:0000253)	1.79701603
92	Poor coordination (HP:0002370)	1.79310951
93	Large for gestational age (HP:0001520)	1.78186160
94	Renal Fanconi syndrome (HP:0001994)	1.77873327
95	Aplasia/hypoplasia of the uterus (HP:0008684)	1.75699137
96	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.74442271
97	Pachygyria (HP:0001302)	1.74350054
98	Furrowed tongue (HP:0000221)	1.74060835
99	Absent thumb (HP:0009777)	1.73826108
100	Respiratory failure (HP:0002878)	1.72607812

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.22083323
2	WNK3	3.00756097
3	VRK2	2.89443090
4	ZAK	2.63669331
5	BMPR1B	2.48640536
6	NUAK1	2.36205733
7	STK16	2.18455204
8	CASK	2.13691202
9	ADRBK2	2.13596466
10	MAP4K2	2.05388006
11	SRPK1	2.03991164
12	BUB1	1.99994120
13	TAOK3	1.93213834
14	TLK1	1.90483777
15	ACVR1B	1.87711231
16	MAPK13	1.82284813
17	PINK1	1.81581241
18	TRIM28	1.79240249
19	CDC7	1.78627577
20	GRK1	1.75389647
21	VRK1	1.72588324
22	PLK4	1.63464612
23	MAP3K4	1.54741327
24	PNCK	1.53162285
25	TNIK	1.43558268
26	INSRR	1.33591240
27	MST4	1.27450565
28	PLK3	1.26415747
29	EPHA4	1.26410059
30	BRSK2	1.22056643
31	MKNK2	1.19530964
32	DYRK2	1.18593548
33	WEE1	1.17056201
34	BCKDK	1.14923429
35	MAP2K7	1.11809957
36	PBK	1.11663512
37	PLK1	1.11161084
38	CSNK1G3	1.09444967
39	TAF1	1.08989341
40	CSNK1G1	1.07999846
41	NME1	1.05450133
42	WNK4	1.02515519
43	OXSR1	1.01717612
44	PLK2	0.97962508
45	PDK2	0.97781433
46	CHEK2	0.97756820
47	CSNK1G2	0.97465944
48	STK39	0.96895137
49	ATR	0.94667388
50	CSNK1A1L	0.93848286
51	MARK1	0.90722447
52	ADRBK1	0.88499931
53	MKNK1	0.86537817
54	LIMK1	0.86140705
55	BCR	0.81793070
56	EIF2AK3	0.81006893
57	PRKCG	0.77973401
58	DAPK2	0.77956191
59	NTRK3	0.77782144
60	PAK3	0.74009412
61	STK38L	0.72658973
62	RPS6KA5	0.67585820
63	PRKCE	0.67144510
64	AURKA	0.66047093
65	KDR	0.66043280
66	DYRK3	0.65910737
67	NEK1	0.65572278
68	FLT3	0.62303413
69	PHKG1	0.60675886
70	PHKG2	0.60675886
71	MINK1	0.60419468
72	AURKB	0.59456664
73	CAMK2A	0.59066206
74	PTK2B	0.55573407
75	TTK	0.55241582
76	PRKCI	0.53972101
77	ATM	0.53796671
78	MAPKAPK5	0.53519549
79	MUSK	0.52715185
80	CAMKK2	0.52528715
81	MAP2K6	0.52333014
82	TSSK6	0.51513020
83	BRSK1	0.51065609
84	CCNB1	0.48756015
85	MAP3K12	0.48607083
86	CSNK1A1	0.44681500
87	EIF2AK2	0.44057751
88	PKN1	0.42967570
89	DAPK1	0.42327545
90	TESK2	0.42177875
91	CSNK2A1	0.41999670
92	CDK19	0.41338169
93	MAP3K9	0.40929914
94	CDK8	0.40148726
95	ERBB3	0.39106852
96	PRKACA	0.39100398
97	TGFBR1	0.38670890
98	CHEK1	0.38120797
99	EIF2AK1	0.37816829
100	CSNK1D	0.37782599

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	RNA polymerase_Homo sapiens_hsa03020	3.10251163
2	Homologous recombination_Homo sapiens_hsa03440	2.97993184
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.89560089
4	Parkinsons disease_Homo sapiens_hsa05012	2.57372710
5	Proteasome_Homo sapiens_hsa03050	2.37930087
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.33505983
7	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.28864535
8	Protein export_Homo sapiens_hsa03060	2.16390230
9	Mismatch repair_Homo sapiens_hsa03430	2.16345304
10	Basal transcription factors_Homo sapiens_hsa03022	2.16014910
11	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.13881813
12	DNA replication_Homo sapiens_hsa03030	2.12776290
13	Huntingtons disease_Homo sapiens_hsa05016	1.97989105
14	Phototransduction_Homo sapiens_hsa04744	1.97784286
15	Butanoate metabolism_Homo sapiens_hsa00650	1.95128879
16	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.88289756
17	Ribosome_Homo sapiens_hsa03010	1.79568832
18	Base excision repair_Homo sapiens_hsa03410	1.78877680
19	Nicotine addiction_Homo sapiens_hsa05033	1.74199275
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.71157624
21	Non-homologous end-joining_Homo sapiens_hsa03450	1.68110176
22	Pyrimidine metabolism_Homo sapiens_hsa00240	1.65652952
23	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.63441573
24	RNA degradation_Homo sapiens_hsa03018	1.60315477
25	Alzheimers disease_Homo sapiens_hsa05010	1.54858742
26	Nucleotide excision repair_Homo sapiens_hsa03420	1.51886828
27	One carbon pool by folate_Homo sapiens_hsa00670	1.41136285
28	Purine metabolism_Homo sapiens_hsa00230	1.41109101
29	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.40093256
30	RNA transport_Homo sapiens_hsa03013	1.39312286
31	Propanoate metabolism_Homo sapiens_hsa00640	1.39123739
32	Selenocompound metabolism_Homo sapiens_hsa00450	1.37685833
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.32319666
34	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.29886653
35	Cardiac muscle contraction_Homo sapiens_hsa04260	1.28460519
36	Taste transduction_Homo sapiens_hsa04742	1.27010003
37	Nitrogen metabolism_Homo sapiens_hsa00910	1.25519975
38	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.23306925
39	Tryptophan metabolism_Homo sapiens_hsa00380	1.20002654
40	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.19116767
41	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.18838782
42	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.18495654
43	Steroid biosynthesis_Homo sapiens_hsa00100	1.17984465
44	Folate biosynthesis_Homo sapiens_hsa00790	1.15811012
45	Regulation of autophagy_Homo sapiens_hsa04140	1.13972406
46	Fatty acid elongation_Homo sapiens_hsa00062	1.13909852
47	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.13879891
48	Spliceosome_Homo sapiens_hsa03040	1.12845338
49	Peroxisome_Homo sapiens_hsa04146	1.09733769
50	Olfactory transduction_Homo sapiens_hsa04740	1.08274610
51	Linoleic acid metabolism_Homo sapiens_hsa00591	1.07223187
52	Sulfur relay system_Homo sapiens_hsa04122	0.99041800
53	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.95986454
54	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.95678179
55	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.92603788
56	GABAergic synapse_Homo sapiens_hsa04727	0.90820596
57	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.88501500
58	Sulfur metabolism_Homo sapiens_hsa00920	0.87197757
59	Morphine addiction_Homo sapiens_hsa05032	0.85949834
60	Metabolic pathways_Homo sapiens_hsa01100	0.80108338
61	Ether lipid metabolism_Homo sapiens_hsa00565	0.78090401
62	Cell cycle_Homo sapiens_hsa04110	0.77086986
63	Collecting duct acid secretion_Homo sapiens_hsa04966	0.76869785
64	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.74524583
65	beta-Alanine metabolism_Homo sapiens_hsa00410	0.71764311
66	Oocyte meiosis_Homo sapiens_hsa04114	0.70727403
67	Circadian entrainment_Homo sapiens_hsa04713	0.69169458
68	Serotonergic synapse_Homo sapiens_hsa04726	0.65363382
69	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.65103020
70	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.64155889
71	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.60174524
72	Glutathione metabolism_Homo sapiens_hsa00480	0.59508387
73	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.58201058
74	Pyruvate metabolism_Homo sapiens_hsa00620	0.57135335
75	Insulin secretion_Homo sapiens_hsa04911	0.56880350
76	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.55196457
77	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.54667404
78	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.50671150
79	Caffeine metabolism_Homo sapiens_hsa00232	0.49330224
80	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.48955815
81	Glutamatergic synapse_Homo sapiens_hsa04724	0.48689724
82	Salivary secretion_Homo sapiens_hsa04970	0.48424572
83	mRNA surveillance pathway_Homo sapiens_hsa03015	0.48367486
84	Chemical carcinogenesis_Homo sapiens_hsa05204	0.47344061
85	Retinol metabolism_Homo sapiens_hsa00830	0.44945959
86	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.44453319
87	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.44182617
88	p53 signaling pathway_Homo sapiens_hsa04115	0.43652072
89	Calcium signaling pathway_Homo sapiens_hsa04020	0.40926416
90	ABC transporters_Homo sapiens_hsa02010	0.38131159
91	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.35958263
92	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.35668783
93	Dopaminergic synapse_Homo sapiens_hsa04728	0.34795505
94	Arginine and proline metabolism_Homo sapiens_hsa00330	0.33954199
95	Fatty acid metabolism_Homo sapiens_hsa01212	0.32923545
96	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.32388272
97	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.31433726
98	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.30670688
99	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.30644062
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.29832690

KHDC1

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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