ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of cytosolic calcium ion concentration (GO:0051481)	6.56752639
2	auditory receptor cell differentiation (GO:0042491)	6.25352995
3	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	5.87624466
4	negative regulation of acute inflammatory response (GO:0002674)	5.30303158
5	glandular epithelial cell differentiation (GO:0002067)	5.10799498
6	negative regulation of hormone biosynthetic process (GO:0032353)	5.09717541
7	negative regulation of gluconeogenesis (GO:0045721)	4.95755535
8	positive regulation of respiratory burst (GO:0060267)	4.81247951
9	positive regulation of glycolytic process (GO:0045821)	4.75305665
10	phosphorylated carbohydrate dephosphorylation (GO:0046838)	4.63688797
11	inositol phosphate dephosphorylation (GO:0046855)	4.63688797
12	endocrine pancreas development (GO:0031018)	4.61344854
13	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	4.57575591
14	regulation of type B pancreatic cell apoptotic process (GO:2000674)	4.43499796
15	negative regulation of glycogen metabolic process (GO:0070874)	4.41148813
16	negative regulation of hormone metabolic process (GO:0032351)	4.27211727
17	inositol phosphate catabolic process (GO:0071545)	4.25465279
18	positive regulation of TOR signaling (GO:0032008)	4.24781515
19	fatty acid homeostasis (GO:0055089)	4.15065748
20	negative regulation of protein oligomerization (GO:0032460)	3.99722492
21	nitric oxide mediated signal transduction (GO:0007263)	3.93542518
22	suckling behavior (GO:0001967)	3.90141357
23	regulation of glucocorticoid metabolic process (GO:0031943)	3.88734531
24	protein targeting to Golgi (GO:0000042)	3.88107932
25	cellular ketone body metabolic process (GO:0046950)	3.86436735
26	nonmotile primary cilium assembly (GO:0035058)	3.86272412
27	establishment of protein localization to Golgi (GO:0072600)	3.79979200
28	nucleoside diphosphate catabolic process (GO:0009134)	3.74088239
29	amino acid salvage (GO:0043102)	3.71037505
30	L-methionine salvage (GO:0071267)	3.71037505
31	L-methionine biosynthetic process (GO:0071265)	3.71037505
32	mesenchymal cell differentiation involved in kidney development (GO:0072161)	3.66720997
33	mesenchymal cell differentiation involved in renal system development (GO:2001012)	3.66720997
34	cell differentiation involved in metanephros development (GO:0072202)	3.64463786
35	retrograde transport, vesicle recycling within Golgi (GO:0000301)	3.64440266
36	regulation of male gonad development (GO:2000018)	3.63506621
37	insulin secretion (GO:0030073)	3.62414798
38	cerebellum development (GO:0021549)	3.60915465
39	signal peptide processing (GO:0006465)	3.53962088
40	positive regulation of insulin receptor signaling pathway (GO:0046628)	3.47029646
41	ketone body metabolic process (GO:1902224)	3.40037089
42	cellular response to zinc ion (GO:0071294)	3.35726788
43	positive regulation of hormone biosynthetic process (GO:0046886)	3.31731849
44	methionine biosynthetic process (GO:0009086)	3.21400662
45	paraxial mesoderm development (GO:0048339)	3.21108951
46	positive regulation of embryonic development (GO:0040019)	3.20214760
47	regulation of glycolytic process (GO:0006110)	3.19520721
48	positive regulation of peptide hormone secretion (GO:0090277)	3.17913781
49	positive regulation of protein autophosphorylation (GO:0031954)	3.16092460
50	polyol catabolic process (GO:0046174)	3.15962611
51	3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)	3.10454046
52	purine ribonucleoside bisphosphate metabolic process (GO:0034035)	3.10454046
53	peptidyl-histidine modification (GO:0018202)	3.09891885
54	left/right axis specification (GO:0070986)	3.09442265
55	positive regulation of peptide secretion (GO:0002793)	3.05349588
56	reflex (GO:0060004)	3.03523832
57	cellular response to glucocorticoid stimulus (GO:0071385)	3.00959816
58	inner ear receptor cell differentiation (GO:0060113)	3.00005051
59	regulation of telomere maintenance via telomerase (GO:0032210)	2.97898455
60	proline transport (GO:0015824)	2.95708591
61	regulation of glucokinase activity (GO:0033131)	2.92505314
62	regulation of hexokinase activity (GO:1903299)	2.92505314
63	alanine transport (GO:0032328)	2.92403618
64	dendritic spine morphogenesis (GO:0060997)	2.92065902
65	response to pheromone (GO:0019236)	2.91465531
66	ER overload response (GO:0006983)	2.90765683
67	protein localization to Golgi apparatus (GO:0034067)	2.89831848
68	ganglion development (GO:0061548)	2.86708806
69	regulation of acute inflammatory response to antigenic stimulus (GO:0002864)	2.86586759
70	positive regulation of meiosis (GO:0045836)	2.84793404
71	histamine secretion (GO:0001821)	2.84548214
72	positive regulation of growth hormone secretion (GO:0060124)	2.84426283
73	pteridine-containing compound biosynthetic process (GO:0042559)	2.83506871
74	azole transport (GO:0045117)	2.82202438
75	cellular response to estradiol stimulus (GO:0071392)	2.81483717
76	atrial cardiac muscle cell action potential (GO:0086014)	2.80643643
77	positive regulation of insulin secretion (GO:0032024)	2.80205902
78	intra-Golgi vesicle-mediated transport (GO:0006891)	2.79529275
79	regulation of steroid hormone biosynthetic process (GO:0090030)	2.79519661
80	hair cell differentiation (GO:0035315)	2.78332825
81	renal tubule development (GO:0061326)	2.74032520
82	multicellular organismal aging (GO:0010259)	2.69757146
83	water-soluble vitamin biosynthetic process (GO:0042364)	2.69702180
84	cellular response to corticosteroid stimulus (GO:0071384)	2.69449005
85	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.68158900
86	positive regulation of glycogen biosynthetic process (GO:0045725)	2.66973976
87	iron ion import (GO:0097286)	2.66576264
88	methionine metabolic process (GO:0006555)	2.65210408
89	behavioral response to nicotine (GO:0035095)	2.65115730
90	cornea development in camera-type eye (GO:0061303)	2.63869888
91	androgen biosynthetic process (GO:0006702)	2.62967407
92	positive regulation of meiotic cell cycle (GO:0051446)	2.62179845
93	neuronal stem cell maintenance (GO:0097150)	2.61794048
94	artery smooth muscle contraction (GO:0014824)	2.60552610
95	platelet dense granule organization (GO:0060155)	2.60269824
96	oligodendrocyte development (GO:0014003)	2.59466730
97	multicellular organismal movement (GO:0050879)	2.59252695
98	musculoskeletal movement (GO:0050881)	2.59252695
99	response to starvation (GO:0042594)	2.57703208
100	protein localization to cilium (GO:0061512)	2.56414686

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	6.08290108
2	FLI1_27457419_Chip-Seq_LIVER_Mouse	3.03810553
3	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.94797622
4	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.74439855
5	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.50744287
6	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.45400013
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.39731752
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.33183736
9	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.28454707
10	FUS_26573619_Chip-Seq_HEK293_Human	2.09002937
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.07901625
12	P300_19829295_ChIP-Seq_ESCs_Human	1.93061258
13	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.88772638
14	TAF15_26573619_Chip-Seq_HEK293_Human	1.84095586
15	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.82912829
16	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.78730242
17	ZNF274_21170338_ChIP-Seq_K562_Hela	1.76573856
18	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.74229429
19	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.73695568
20	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.68052548
21	BCAT_22108803_ChIP-Seq_LS180_Human	1.64422987
22	VDR_22108803_ChIP-Seq_LS180_Human	1.62498436
23	IGF1R_20145208_ChIP-Seq_DFB_Human	1.60913781
24	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.58249691
25	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.56260390
26	TP53_22573176_ChIP-Seq_HFKS_Human	1.55857098
27	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51722321
28	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.49518802
29	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.49279750
30	SMAD4_21799915_ChIP-Seq_A2780_Human	1.46700869
31	RNF2_27304074_Chip-Seq_NSC_Mouse	1.44567221
32	NANOG_19829295_ChIP-Seq_ESCs_Human	1.42487357
33	SOX2_19829295_ChIP-Seq_ESCs_Human	1.42487357
34	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.42075324
35	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.40634090
36	HTT_18923047_ChIP-ChIP_STHdh_Human	1.40630185
37	CDX2_22108803_ChIP-Seq_LS180_Human	1.40551772
38	AR_25329375_ChIP-Seq_VCAP_Human	1.39587276
39	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.37070202
40	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36459260
41	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.36143549
42	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.35974775
43	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.35269410
44	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.34686540
45	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31922266
46	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.30671358
47	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.30597830
48	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.29233391
49	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.26800774
50	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.26790356
51	EWS_26573619_Chip-Seq_HEK293_Human	1.26564419
52	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.25258271
53	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.23668063
54	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.23415616
55	ER_23166858_ChIP-Seq_MCF-7_Human	1.23137188
56	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.21755902
57	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.21674026
58	P53_22387025_ChIP-Seq_ESCs_Mouse	1.21218899
59	ELK1_19687146_ChIP-ChIP_HELA_Human	1.21148590
60	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.20846839
61	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.20766373
62	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.20039687
63	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.19218785
64	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.19106920
65	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.18883580
66	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.18312987
67	MYC_18940864_ChIP-ChIP_HL60_Human	1.16725824
68	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.16644887
69	TCF4_22108803_ChIP-Seq_LS180_Human	1.15224634
70	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.15145868
71	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.12862572
72	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.11428093
73	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.11323572
74	REST_21632747_ChIP-Seq_MESCs_Mouse	1.10406278
75	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.10007335
76	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.09430341
77	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.08986840
78	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.08936896
79	TCF4_23295773_ChIP-Seq_U87_Human	1.08708723
80	RUNX2_22187159_ChIP-Seq_PCA_Human	1.08020162
81	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.08016710
82	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.07185673
83	STAT3_23295773_ChIP-Seq_U87_Human	1.06081949
84	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.05440378
85	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.05229217
86	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.05185986
87	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05018506
88	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.05018506
89	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.04346154
90	P300_18555785_Chip-Seq_ESCs_Mouse	1.03890939
91	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.03293953
92	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.02943297
93	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.02262468
94	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.01912597
95	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.01912597
96	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.01012399
97	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.99230019
98	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.99214144
99	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.99205863
100	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.98952855

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009780_abnormal_chondrocyte_physiolo	5.10136212
2	MP0002909_abnormal_adrenal_gland	4.54383435
3	MP0005451_abnormal_body_composition	4.31791146
4	MP0003283_abnormal_digestive_organ	3.78905964
5	MP0003195_calcinosis	3.41150153
6	MP0003787_abnormal_imprinting	3.25985892
7	MP0005379_endocrine/exocrine_gland_phen	3.25407784
8	MP0002163_abnormal_gland_morphology	2.97638884
9	MP0002822_catalepsy	2.92032716
10	MP0006072_abnormal_retinal_apoptosis	2.86602230
11	MP0000462_abnormal_digestive_system	2.60719639
12	MP0005646_abnormal_pituitary_gland	2.59850231
13	MP0002653_abnormal_ependyma_morphology	2.48871299
14	MP0008877_abnormal_DNA_methylation	2.35551853
15	MP0010234_abnormal_vibrissa_follicle	2.34797748
16	MP0004147_increased_porphyrin_level	2.33623196
17	MP0002837_dystrophic_cardiac_calcinosis	2.23385124
18	MP0005367_renal/urinary_system_phenotyp	2.08114007
19	MP0000516_abnormal_urinary_system	2.08114007
20	MP0001944_abnormal_pancreas_morphology	2.04606611
21	MP0002938_white_spotting	2.01465096
22	MP0002693_abnormal_pancreas_physiology	1.99785377
23	MP0005171_absent_coat_pigmentation	1.92175166
24	MP0002254_reproductive_system_inflammat	1.91869909
25	MP0001984_abnormal_olfaction	1.83787862
26	MP0005253_abnormal_eye_physiology	1.79194367
27	MP0008789_abnormal_olfactory_epithelium	1.78596221
28	MP0003880_abnormal_central_pattern	1.76806041
29	MP0002928_abnormal_bile_duct	1.75439558
30	MP0005220_abnormal_exocrine_pancreas	1.71477457
31	MP0002876_abnormal_thyroid_physiology	1.60833296
32	MP0005645_abnormal_hypothalamus_physiol	1.52662816
33	MP0010678_abnormal_skin_adnexa	1.48769348
34	MP0004885_abnormal_endolymph	1.41780412
35	MP0005551_abnormal_eye_electrophysiolog	1.40254481
36	MP0008872_abnormal_physiological_respon	1.37575225
37	MP0004133_heterotaxia	1.33220223
38	MP0003252_abnormal_bile_duct	1.31360409
39	MP0005394_taste/olfaction_phenotype	1.29467743
40	MP0005499_abnormal_olfactory_system	1.29467743
41	MP0002064_seizures	1.27072239
42	MP0000013_abnormal_adipose_tissue	1.25446665
43	MP0005085_abnormal_gallbladder_physiolo	1.25184254
44	MP0000383_abnormal_hair_follicle	1.21838829
45	MP0000631_abnormal_neuroendocrine_gland	1.21364751
46	MP0002090_abnormal_vision	1.20080060
47	MP0006292_abnormal_olfactory_placode	1.19757710
48	MP0003011_delayed_dark_adaptation	1.19641616
49	MP0003123_paternal_imprinting	1.14750512
50	MP0004215_abnormal_myocardial_fiber	1.14245976
51	MP0002095_abnormal_skin_pigmentation	1.13643184
52	MP0003122_maternal_imprinting	1.12347483
53	MP0002078_abnormal_glucose_homeostasis	1.08783796
54	MP0009046_muscle_twitch	1.06926228
55	MP0001485_abnormal_pinna_reflex	1.05753597
56	MP0001968_abnormal_touch/_nociception	1.03090138
57	MP0005636_abnormal_mineral_homeostasis	0.98960173
58	MP0001986_abnormal_taste_sensitivity	0.98298474
59	MP0009745_abnormal_behavioral_response	0.98240376
60	MP0004043_abnormal_pH_regulation	0.94040871
61	MP0006082_CNS_inflammation	0.93656828
62	MP0002009_preneoplasia	0.93627042
63	MP0004019_abnormal_vitamin_homeostasis	0.93040012
64	MP0001905_abnormal_dopamine_level	0.91546534
65	MP0000639_abnormal_adrenal_gland	0.90548474
66	MP0005332_abnormal_amino_acid	0.89842469
67	MP0003938_abnormal_ear_development	0.89442232
68	MP0008057_abnormal_DNA_replication	0.88854633
69	MP0010386_abnormal_urinary_bladder	0.88614400
70	MP0000538_abnormal_urinary_bladder	0.88370413
71	MP0003953_abnormal_hormone_level	0.86270525
72	MP0004270_analgesia	0.86231007
73	MP0008875_abnormal_xenobiotic_pharmacok	0.85778184
74	MP0002272_abnormal_nervous_system	0.84879772
75	MP0002572_abnormal_emotion/affect_behav	0.84074514
76	MP0001486_abnormal_startle_reflex	0.82708421
77	MP0002067_abnormal_sensory_capabilities	0.82624024
78	MP0002736_abnormal_nociception_after	0.81408660
79	MP0004142_abnormal_muscle_tone	0.81100807
80	MP0000230_abnormal_systemic_arterial	0.80407275
81	MP0002557_abnormal_social/conspecific_i	0.80034455
82	MP0004742_abnormal_vestibular_system	0.78089310
83	MP0002638_abnormal_pupillary_reflex	0.76431274
84	MP0002229_neurodegeneration	0.76122117
85	MP0005391_vision/eye_phenotype	0.73450206
86	MP0003137_abnormal_impulse_conducting	0.73201165
87	MP0001666_abnormal_nutrient_absorption	0.72864129
88	MP0008961_abnormal_basal_metabolism	0.72735234
89	MP0004085_abnormal_heartbeat	0.72678301
90	MP0003121_genomic_imprinting	0.68298383
91	MP0001765_abnormal_ion_homeostasis	0.67781297
92	MP0002751_abnormal_autonomic_nervous	0.65342584
93	MP0001756_abnormal_urination	0.63051150
94	MP0004924_abnormal_behavior	0.62978777
95	MP0005386_behavior/neurological_phenoty	0.62978777
96	MP0010352_gastrointestinal_tract_polyps	0.62718679
97	MP0003633_abnormal_nervous_system	0.61874096
98	MP0003635_abnormal_synaptic_transmissio	0.61549179
99	MP0005535_abnormal_body_temperature	0.57305041
100	MP0005167_abnormal_blood-brain_barrier	0.57260057

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Ketoacidosis (HP:0001993)	5.87342406
2	Hypoglycemic seizures (HP:0002173)	5.29078485
3	Hyperinsulinemic hypoglycemia (HP:0000825)	4.73001532
4	Type II lissencephaly (HP:0007260)	4.62034324
5	Hypomagnesemia (HP:0002917)	4.48490333
6	Hyperglycemia (HP:0003074)	4.35714306
7	Abnormality of endocrine pancreas physiology (HP:0012093)	4.27696170
8	Abnormality of the pancreatic islet cells (HP:0006476)	4.27696170
9	Hypoglycemic coma (HP:0001325)	4.24316507
10	Sex reversal (HP:0012245)	4.18320717
11	Abnormal sex determination (HP:0012244)	4.18320717
12	Symptomatic seizures (HP:0011145)	3.77761696
13	Large for gestational age (HP:0001520)	3.49310339
14	Retinal dysplasia (HP:0007973)	3.47034907
15	Abnormality of magnesium homeostasis (HP:0004921)	3.45947106
16	Renal cortical cysts (HP:0000803)	3.41762409
17	Prominent metopic ridge (HP:0005487)	3.39427228
18	Ketosis (HP:0001946)	3.30469352
19	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.27047879
20	Disproportionate short-trunk short stature (HP:0003521)	3.21818304
21	Abnormality of the metopic suture (HP:0005556)	3.17861003
22	Congenital sensorineural hearing impairment (HP:0008527)	3.16370235
23	Hyperventilation (HP:0002883)	3.11646750
24	Abnormality of the renal cortex (HP:0011035)	3.05276679
25	Abnormal pancreas size (HP:0012094)	3.01586732
26	Type I diabetes mellitus (HP:0100651)	2.95079377
27	Irregular vertebral endplates (HP:0003301)	2.77401981
28	Abnormality of methionine metabolism (HP:0010901)	2.76126365
29	Mucopolysacchariduria (HP:0008155)	2.67414066
30	Urinary glycosaminoglycan excretion (HP:0003541)	2.67414066
31	Abnormality of polysaccharide metabolism (HP:0011012)	2.58822082
32	Abnormality of glycosaminoglycan metabolism (HP:0004371)	2.58822082
33	Abnormality of mucopolysaccharide metabolism (HP:0011020)	2.58822082
34	Aplasia/hypoplasia of the uterus (HP:0008684)	2.56690359
35	Insulin-resistant diabetes mellitus (HP:0000831)	2.55529588
36	Unilateral renal agenesis (HP:0000122)	2.55357927
37	Medial flaring of the eyebrow (HP:0010747)	2.55212298
38	Enlarged penis (HP:0000040)	2.53535892
39	Hematochezia (HP:0002573)	2.49649543
40	Molar tooth sign on MRI (HP:0002419)	2.46916751
41	Abnormality of midbrain morphology (HP:0002418)	2.46916751
42	Tracheomalacia (HP:0002779)	2.45695106
43	Hypoalbuminemia (HP:0003073)	2.45432518
44	Abnormal albumin level (HP:0012116)	2.45432518
45	Calf muscle hypertrophy (HP:0008981)	2.43999234
46	Chorioretinal atrophy (HP:0000533)	2.42919317
47	EEG with generalized epileptiform discharges (HP:0011198)	2.37215281
48	Gaze-evoked nystagmus (HP:0000640)	2.34005580
49	Thoracolumbar scoliosis (HP:0002944)	2.33103640
50	Secondary amenorrhea (HP:0000869)	2.32372771
51	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.29517891
52	Hyperthyroidism (HP:0000836)	2.29237882
53	Epileptiform EEG discharges (HP:0011182)	2.28999990
54	Rib fusion (HP:0000902)	2.25362978
55	Patchy hypopigmentation of hair (HP:0011365)	2.25008939
56	Pancreatic cysts (HP:0001737)	2.22160980
57	Curly hair (HP:0002212)	2.22020790
58	Hemiparesis (HP:0001269)	2.19927568
59	Chronic hepatic failure (HP:0100626)	2.18306319
60	Pancreatic fibrosis (HP:0100732)	2.17083872
61	Abnormality of small intestinal villus morphology (HP:0011472)	2.16646283
62	Villous atrophy (HP:0011473)	2.16646283
63	Gait imbalance (HP:0002141)	2.14037493
64	Congenital primary aphakia (HP:0007707)	2.13208871
65	Aqueductal stenosis (HP:0002410)	2.13125794
66	Abnormality of the vertebral endplates (HP:0005106)	2.12955725
67	Hypsarrhythmia (HP:0002521)	2.11978871
68	Muscular hypotonia of the trunk (HP:0008936)	2.10469507
69	Muscle hypertrophy of the lower extremities (HP:0008968)	2.09849206
70	Prolonged QT interval (HP:0001657)	2.09238168
71	Testicular neoplasm (HP:0010788)	2.09218680
72	Polydipsia (HP:0001959)	2.06941628
73	Abnormal drinking behavior (HP:0030082)	2.06941628
74	Protruding tongue (HP:0010808)	2.06101845
75	Elevated circulating parathyroid hormone (PTH) level (HP:0003165)	2.04622861
76	Congenital malformation of the right heart (HP:0011723)	1.99594400
77	Double outlet right ventricle (HP:0001719)	1.99594400
78	Intestinal atresia (HP:0011100)	1.95862293
79	Abnormality of the pons (HP:0007361)	1.91656672
80	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.91595939
81	Hypoplasia of the fovea (HP:0007750)	1.91595939
82	Prolonged neonatal jaundice (HP:0006579)	1.90982220
83	Nephrogenic diabetes insipidus (HP:0009806)	1.90982136
84	True hermaphroditism (HP:0010459)	1.88921509
85	Hypoplasia of the pons (HP:0012110)	1.88789501
86	Abnormality of the renal medulla (HP:0100957)	1.87571712
87	Postural tremor (HP:0002174)	1.83932837
88	Exocrine pancreatic insufficiency (HP:0001738)	1.83652987
89	Cerebral hypomyelination (HP:0006808)	1.83652177
90	Metabolic alkalosis (HP:0200114)	1.81020119
91	Downturned corners of mouth (HP:0002714)	1.79486014
92	Late onset (HP:0003584)	1.75838418
93	Tented upper lip vermilion (HP:0010804)	1.74779061
94	Furrowed tongue (HP:0000221)	1.74659047
95	Woolly hair (HP:0002224)	1.74518414
96	Acne (HP:0001061)	1.73785333
97	Abolished electroretinogram (ERG) (HP:0000550)	1.73733607
98	Testicular atrophy (HP:0000029)	1.70921221
99	Meningocele (HP:0002435)	1.70129434
100	Vacuolated lymphocytes (HP:0001922)	1.68736904

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.37803440
2	MAP3K2	4.19360131
3	PASK	3.63785334
4	FGFR2	2.94778805
5	PAK3	2.83504922
6	STK38L	2.74339278
7	MAP3K9	2.43233385
8	DAPK2	2.36483571
9	TNK2	2.13603389
10	MAP3K4	2.08539697
11	EIF2AK3	2.01901836
12	PHKG2	1.95771846
13	PHKG1	1.95771846
14	MAPKAPK3	1.90625921
15	WNK4	1.82469582
16	WNK3	1.82263189
17	TRPM7	1.76771814
18	PINK1	1.76425234
19	BMPR1B	1.61379322
20	NTRK3	1.58512499
21	ADRBK2	1.54878171
22	GRK1	1.54667276
23	LATS2	1.51873662
24	HIPK2	1.47567721
25	TAF1	1.46502094
26	MAP3K7	1.40168488
27	STK24	1.38215155
28	CDK3	1.32121275
29	MAP2K7	1.31557217
30	FGFR3	1.30820006
31	IRAK1	1.19490911
32	RPS6KA4	1.16422300
33	STK39	1.12681929
34	ERBB3	1.03544939
35	MAP4K2	1.02457133
36	MAPK15	0.99169710
37	TNIK	0.95298227
38	STK3	0.94251541
39	TAOK3	0.92199419
40	CAMK1	0.89802981
41	EPHA3	0.87292346
42	DAPK1	0.84670435
43	INSRR	0.84392062
44	MAP2K6	0.84044335
45	NME1	0.78656204
46	CAMK2D	0.75496756
47	OXSR1	0.74849310
48	CSNK1G1	0.73856307
49	PTK2B	0.72042041
50	PRKG2	0.68746860
51	PRKCG	0.67088003
52	PRKCE	0.63990896
53	ZAK	0.62878488
54	MAP3K1	0.62517997
55	PNCK	0.61856985
56	NLK	0.60585613
57	STK38	0.60394900
58	RPS6KA5	0.57553297
59	WNK1	0.56778394
60	CAMK4	0.56640762
61	DYRK3	0.55237016
62	CSNK1G3	0.53256218
63	CDK8	0.52429103
64	PRKACA	0.50831676
65	KSR1	0.50780685
66	PRKAA1	0.49653613
67	MARK2	0.49476824
68	CASK	0.49466123
69	STK4	0.46066550
70	ITK	0.44177552
71	CSNK1G2	0.44107312
72	PLK2	0.43408993
73	DYRK2	0.43205236
74	STK11	0.40220047
75	ADRBK1	0.39230638
76	CAMK2A	0.38700357
77	CAMK2G	0.37847608
78	PRKAA2	0.37509589
79	UHMK1	0.37397421
80	PRKCA	0.35380918
81	BCR	0.34975926
82	TXK	0.29833207
83	CSNK1A1	0.29130517
84	RPS6KA3	0.26978514
85	ROCK1	0.26973426
86	PLK3	0.26165648
87	CSNK2A1	0.26069825
88	FER	0.23905855
89	OBSCN	0.23672293
90	PRKACB	0.23146967
91	ATM	0.22574629
92	PRKG1	0.22441965
93	DMPK	0.21458560
94	SGK223	0.20887138
95	SGK494	0.20887138
96	PTK2	0.20659484
97	BMPR2	0.20641141
98	IRAK2	0.20443683
99	PRKD1	0.20227866
100	CAMK1D	0.20219436

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	7.27942681
2	Sulfur metabolism_Homo sapiens_hsa00920	3.66958836
3	Caffeine metabolism_Homo sapiens_hsa00232	3.13312434
4	Protein export_Homo sapiens_hsa03060	3.08783444
5	Insulin secretion_Homo sapiens_hsa04911	3.03992957
6	Regulation of autophagy_Homo sapiens_hsa04140	2.94207103
7	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.89234505
8	Selenocompound metabolism_Homo sapiens_hsa00450	2.56335146
9	Collecting duct acid secretion_Homo sapiens_hsa04966	2.19288310
10	Butanoate metabolism_Homo sapiens_hsa00650	2.11680773
11	Type I diabetes mellitus_Homo sapiens_hsa04940	2.00686137
12	Basal transcription factors_Homo sapiens_hsa03022	1.79658573
13	Mineral absorption_Homo sapiens_hsa04978	1.75432583
14	Oxidative phosphorylation_Homo sapiens_hsa00190	1.70664510
15	Type II diabetes mellitus_Homo sapiens_hsa04930	1.70335713
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.66261488
17	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.57509256
18	Folate biosynthesis_Homo sapiens_hsa00790	1.56192794
19	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.48053088
20	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.47986200
21	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.35501658
22	ABC transporters_Homo sapiens_hsa02010	1.33344228
23	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.31304267
24	Fatty acid elongation_Homo sapiens_hsa00062	1.27034478
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.22229342
26	Fatty acid metabolism_Homo sapiens_hsa01212	1.18461167
27	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.07876609
28	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.03401253
29	Renin secretion_Homo sapiens_hsa04924	1.02882989
30	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.01047207
31	Sphingolipid metabolism_Homo sapiens_hsa00600	0.99794706
32	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.99207403
33	Cardiac muscle contraction_Homo sapiens_hsa04260	0.99000867
34	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.97900934
35	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.95489454
36	RNA degradation_Homo sapiens_hsa03018	0.91280964
37	Vibrio cholerae infection_Homo sapiens_hsa05110	0.89928467
38	Nicotine addiction_Homo sapiens_hsa05033	0.85409148
39	Peroxisome_Homo sapiens_hsa04146	0.83900772
40	Salivary secretion_Homo sapiens_hsa04970	0.80510321
41	Amphetamine addiction_Homo sapiens_hsa05031	0.76227084
42	Phototransduction_Homo sapiens_hsa04744	0.74785303
43	Cocaine addiction_Homo sapiens_hsa05030	0.74712952
44	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.74371465
45	Parkinsons disease_Homo sapiens_hsa05012	0.74153959
46	Chemical carcinogenesis_Homo sapiens_hsa05204	0.74008549
47	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.73442143
48	Bile secretion_Homo sapiens_hsa04976	0.72496341
49	mTOR signaling pathway_Homo sapiens_hsa04150	0.70933497
50	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.70254142
51	Glutamatergic synapse_Homo sapiens_hsa04724	0.67839101
52	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.67076365
53	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.66394647
54	Linoleic acid metabolism_Homo sapiens_hsa00591	0.63609859
55	Propanoate metabolism_Homo sapiens_hsa00640	0.63553198
56	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.63258908
57	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.62734048
58	Arginine and proline metabolism_Homo sapiens_hsa00330	0.62637690
59	Circadian rhythm_Homo sapiens_hsa04710	0.62592361
60	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.62207142
61	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.62040327
62	Alzheimers disease_Homo sapiens_hsa05010	0.61970846
63	Taste transduction_Homo sapiens_hsa04742	0.60757263
64	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.59964773
65	Fatty acid degradation_Homo sapiens_hsa00071	0.58296391
66	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.58104271
67	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.56187770
68	Pancreatic secretion_Homo sapiens_hsa04972	0.55784996
69	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.55064420
70	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.53870091
71	GABAergic synapse_Homo sapiens_hsa04727	0.53421918
72	One carbon pool by folate_Homo sapiens_hsa00670	0.52604635
73	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.52473832
74	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.50033278
75	Circadian entrainment_Homo sapiens_hsa04713	0.49983471
76	Lysine degradation_Homo sapiens_hsa00310	0.49162869
77	Ether lipid metabolism_Homo sapiens_hsa00565	0.48759509
78	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.48485695
79	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.47521205
80	Rheumatoid arthritis_Homo sapiens_hsa05323	0.47000522
81	Purine metabolism_Homo sapiens_hsa00230	0.46522486
82	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.46320369
83	Metabolic pathways_Homo sapiens_hsa01100	0.45958594
84	Homologous recombination_Homo sapiens_hsa03440	0.44942771
85	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.44598717
86	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.42583969
87	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.42291862
88	cAMP signaling pathway_Homo sapiens_hsa04024	0.41763663
89	Serotonergic synapse_Homo sapiens_hsa04726	0.41472580
90	Lysosome_Homo sapiens_hsa04142	0.40227118
91	beta-Alanine metabolism_Homo sapiens_hsa00410	0.39763333
92	Dopaminergic synapse_Homo sapiens_hsa04728	0.38318168
93	Nitrogen metabolism_Homo sapiens_hsa00910	0.37470034
94	Retinol metabolism_Homo sapiens_hsa00830	0.36463556
95	Olfactory transduction_Homo sapiens_hsa04740	0.30394960
96	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.29576587
97	Glucagon signaling pathway_Homo sapiens_hsa04922	0.26783818
98	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.26280575
99	Oocyte meiosis_Homo sapiens_hsa04114	0.26270121
100	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.25551060

SDHCP4

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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