BCO1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of guanylate cyclase activity (GO:0031282)8.18778245
2angiotensin maturation (GO:0002003)7.71475536
3fatty acid elongation (GO:0030497)7.61413146
4positive regulation of guanylate cyclase activity (GO:0031284)7.12143515
5protein-chromophore linkage (GO:0018298)7.08957230
6fat-soluble vitamin metabolic process (GO:0006775)6.24500933
7regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)6.14432096
8ensheathment of neurons (GO:0007272)5.70092129
9axon ensheathment (GO:0008366)5.70092129
10myelination (GO:0042552)5.69536344
11long-chain fatty acid biosynthetic process (GO:0042759)5.50803941
12cellular response to electrical stimulus (GO:0071257)5.42380134
13regulation of bile acid biosynthetic process (GO:0070857)5.33370989
14fat-soluble vitamin biosynthetic process (GO:0042362)5.32236141
15lipoprotein transport (GO:0042953)5.11143415
16NADH metabolic process (GO:0006734)5.05182860
17detection of light stimulus involved in visual perception (GO:0050908)5.03320773
18detection of light stimulus involved in sensory perception (GO:0050962)5.03320773
19regulation of cGMP biosynthetic process (GO:0030826)5.03073072
20intestinal absorption (GO:0050892)4.97504629
21retinal metabolic process (GO:0042574)4.91696529
22cholesterol biosynthetic process (GO:0006695)4.90838172
23response to methylmercury (GO:0051597)4.84495630
24epoxygenase P450 pathway (GO:0019373)4.83351923
25retinol metabolic process (GO:0042572)4.58415608
26regulation of cGMP metabolic process (GO:0030823)4.45321937
27sterol biosynthetic process (GO:0016126)4.29872749
28modified amino acid transport (GO:0072337)4.26459687
29L-amino acid import (GO:0043092)4.25116319
30regulation of systemic arterial blood pressure by hormone (GO:0001990)4.22804131
31regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.22804131
32endocrine process (GO:0050886)4.22804131
33glycerophospholipid catabolic process (GO:0046475)4.22084341
34positive regulation of cGMP biosynthetic process (GO:0030828)4.20368228
35fructose metabolic process (GO:0006000)4.06344273
36isoprenoid biosynthetic process (GO:0008299)4.04604149
37negative regulation of neurotransmitter transport (GO:0051589)4.01277631
38myelin maintenance (GO:0043217)4.00496678
39import into cell (GO:0098657)4.00335490
40phototransduction, visible light (GO:0007603)4.00274675
41positive regulation of pseudopodium assembly (GO:0031274)3.99106476
42vitamin transmembrane transport (GO:0035461)3.98511822
43long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.98458932
44oligodendrocyte differentiation (GO:0048709)3.96781737
45retinoid metabolic process (GO:0001523)3.96171575
46negative regulation of neurotransmitter secretion (GO:0046929)3.93788197
47regulation of systemic arterial blood pressure (GO:0003073)3.93110099
48L-phenylalanine catabolic process (GO:0006559)3.92643431
49erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.92643431
50regulation of cellular extravasation (GO:0002691)3.88279805
51hormone catabolic process (GO:0042447)3.86814571
52maintenance of gastrointestinal epithelium (GO:0030277)3.82467051
53phototransduction (GO:0007602)3.82415068
54antibacterial humoral response (GO:0019731)3.82288592
55peptide catabolic process (GO:0043171)3.77617226
56presynaptic membrane organization (GO:0097090)3.76204733
57negative regulation of protein localization to cell surface (GO:2000009)3.75916831
58cellular glucuronidation (GO:0052695)3.75833250
59amyloid precursor protein metabolic process (GO:0042982)3.73509740
60regulation of collateral sprouting (GO:0048670)3.72950074
61diterpenoid metabolic process (GO:0016101)3.70139995
62antimicrobial humoral response (GO:0019730)3.69996560
63establishment of mitochondrion localization (GO:0051654)3.69356750
64uronic acid metabolic process (GO:0006063)3.66657243
65glucuronate metabolic process (GO:0019585)3.66657243
66long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.65206604
67regulation of lipoprotein metabolic process (GO:0050746)3.65175760
68positive regulation of cGMP metabolic process (GO:0030825)3.64662731
69cell-cell junction maintenance (GO:0045217)3.63238196
70photoreceptor cell differentiation (GO:0046530)3.62463051
71eye photoreceptor cell differentiation (GO:0001754)3.62463051
72very long-chain fatty acid metabolic process (GO:0000038)3.62166322
73regulation of pseudopodium assembly (GO:0031272)3.59825425
74fatty-acyl-CoA biosynthetic process (GO:0046949)3.58693773
75primary alcohol metabolic process (GO:0034308)3.58237098
76drug metabolic process (GO:0017144)3.55515710
77detection of visible light (GO:0009584)3.50932454
78limb bud formation (GO:0060174)3.50130722
79presynaptic membrane assembly (GO:0097105)3.48649459
80detection of light stimulus (GO:0009583)3.47072663
81urea cycle (GO:0000050)3.46147061
82sulfur compound transport (GO:0072348)3.45134124
83positive regulation of oligodendrocyte differentiation (GO:0048714)3.44089315
84glomerular filtration (GO:0003094)3.40941459
85very-low-density lipoprotein particle assembly (GO:0034379)3.40422148
86fatty-acyl-CoA metabolic process (GO:0035337)3.38063885
87complement activation, classical pathway (GO:0006958)3.37377095
88negative regulation of execution phase of apoptosis (GO:1900118)3.36422238
89urea metabolic process (GO:0019627)3.35861741
90terpenoid metabolic process (GO:0006721)3.35350406
91short-term memory (GO:0007614)3.34001138
92receptor guanylyl cyclase signaling pathway (GO:0007168)3.33507319
93creatine metabolic process (GO:0006600)3.31700375
94transepithelial transport (GO:0070633)3.29589699
95neuron remodeling (GO:0016322)3.28244322
96cGMP-mediated signaling (GO:0019934)3.28045459
97adhesion of symbiont to host (GO:0044406)3.27591455
98diacylglycerol metabolic process (GO:0046339)3.26337771
99digestion (GO:0007586)3.26227518
100erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.26033483
101L-phenylalanine metabolic process (GO:0006558)3.26033483
102bile acid and bile salt transport (GO:0015721)3.25849056
103peptide hormone processing (GO:0016486)3.24249579
104renal system process involved in regulation of blood volume (GO:0001977)3.24225547
105heme transport (GO:0015886)3.24110280
106alkaloid metabolic process (GO:0009820)3.21893497
107nucleotide transmembrane transport (GO:1901679)3.19301954
108amino acid import (GO:0043090)3.18787660
109response to redox state (GO:0051775)3.18226682
110response to lipoprotein particle (GO:0055094)3.16308097
111asymmetric protein localization (GO:0008105)3.12809135
112GPI anchor metabolic process (GO:0006505)3.12218837
113positive regulation of cellular amine metabolic process (GO:0033240)3.12101680
114magnesium ion transport (GO:0015693)3.11173707
115flavonoid metabolic process (GO:0009812)3.10469941
116regulation of rhodopsin mediated signaling pathway (GO:0022400)3.10258492
117renal filtration (GO:0097205)3.09982608
118quaternary ammonium group transport (GO:0015697)3.08003584
119GPI anchor biosynthetic process (GO:0006506)3.05444493
120regulation of cholesterol homeostasis (GO:2000188)3.04533969
121nitrogen cycle metabolic process (GO:0071941)3.03614631
122glycolipid catabolic process (GO:0019377)3.03606780
123drug catabolic process (GO:0042737)3.02998946
124cell junction maintenance (GO:0034331)3.02478891
125regulation of apoptotic cell clearance (GO:2000425)3.02268995
126glycosphingolipid catabolic process (GO:0046479)3.01047479
127arginine metabolic process (GO:0006525)3.00847247
128cerebral cortex radially oriented cell migration (GO:0021799)3.00304390
129apical protein localization (GO:0045176)2.97945969
130protein palmitoylation (GO:0018345)2.97671755
131vitamin transport (GO:0051180)2.96996506
132organ growth (GO:0035265)2.95044917
133antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.93354857
134amyloid precursor protein catabolic process (GO:0042987)2.92221665
135regulation of vitamin metabolic process (GO:0030656)2.91937570
136negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.91570642
137glycoside metabolic process (GO:0016137)2.90493626
138regulation of extracellular matrix disassembly (GO:0010715)2.90134769
139plasma lipoprotein particle assembly (GO:0034377)2.90058519
140cranial nerve development (GO:0021545)2.87689579
141O-glycan processing (GO:0016266)2.87060631
142substantia nigra development (GO:0021762)2.86915483
143lipoprotein metabolic process (GO:0042157)2.86432588
144neurotransmitter uptake (GO:0001504)2.85382859
145iron coordination entity transport (GO:1901678)2.84845675
146rhodopsin mediated signaling pathway (GO:0016056)2.84205546
147exogenous drug catabolic process (GO:0042738)2.84062097
148astrocyte development (GO:0014002)2.82560867
149positive regulation of glycoprotein biosynthetic process (GO:0010560)2.80052712
150axon development (GO:0061564)2.78466774
151low-density lipoprotein particle remodeling (GO:0034374)2.78045613
152cyclooxygenase pathway (GO:0019371)2.78008170
153complement activation (GO:0006956)2.77973702
154acyl-CoA biosynthetic process (GO:0071616)2.75909072
155thioester biosynthetic process (GO:0035384)2.75909072
156antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.74165043
157epithelial structure maintenance (GO:0010669)2.74056502
158phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.73509693
159positive regulation of action potential (GO:0045760)2.71405024
160peripheral nervous system axon ensheathment (GO:0032292)2.66634868
161myelination in peripheral nervous system (GO:0022011)2.66634868
162neuron cell-cell adhesion (GO:0007158)2.65747454
163polyol transport (GO:0015791)2.65536954
164peptidyl-tyrosine autophosphorylation (GO:0038083)2.64910479
165membrane tubulation (GO:0097320)2.63494750
166preassembly of GPI anchor in ER membrane (GO:0016254)2.56773344
167response to dietary excess (GO:0002021)2.49472794
168aromatic amino acid family catabolic process (GO:0009074)2.47243686
169nucleotide transport (GO:0006862)2.45332494
170virion attachment to host cell (GO:0019062)2.44799257
171adhesion of symbiont to host cell (GO:0044650)2.44799257
172transmission of nerve impulse (GO:0019226)2.43150603
173leukocyte migration involved in inflammatory response (GO:0002523)2.42741138
174cholesterol metabolic process (GO:0008203)2.42578167
175adult walking behavior (GO:0007628)2.42310760
176steroid biosynthetic process (GO:0006694)2.37555263
177mannosylation (GO:0097502)2.34256231
178negative regulation of acute inflammatory response (GO:0002674)2.33858755
179negative regulation of chemokine production (GO:0032682)2.33216058
180glycosylceramide metabolic process (GO:0006677)2.32948972
181glial cell differentiation (GO:0010001)2.32303148
182glutathione derivative metabolic process (GO:1901685)2.31378398
183glutathione derivative biosynthetic process (GO:1901687)2.31378398
184positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.29797256
185thioester metabolic process (GO:0035383)2.29290629
186acyl-CoA metabolic process (GO:0006637)2.29290629
187opsonization (GO:0008228)2.28620961
188alcohol biosynthetic process (GO:0046165)2.28493476
189pyrimidine-containing compound transmembrane transport (GO:0072531)2.28170231
190positive regulation of glial cell differentiation (GO:0045687)2.28099512
191peripheral nervous system development (GO:0007422)2.27723681
192coenzyme catabolic process (GO:0009109)2.27664465
193enteric nervous system development (GO:0048484)2.27437922
194vitamin A metabolic process (GO:0006776)18.0030378
195axon ensheathment in central nervous system (GO:0032291)10.6109556
196central nervous system myelination (GO:0022010)10.6109556

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CDX2_20551321_ChIP-Seq_CACO-2_Human4.17932739
2IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.18023625
3GBX2_23144817_ChIP-Seq_PC3_Human3.09471031
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.00510238
5TRIM28_21343339_ChIP-Seq_HEK293_Human2.94734676
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.93992564
7TAF15_26573619_Chip-Seq_HEK293_Human2.51012069
8SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.43012316
9EZH2_22144423_ChIP-Seq_EOC_Human2.41293892
10BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.36310233
11GATA4_25053715_ChIP-Seq_YYC3_Human2.35933417
12SOX2_27498859_Chip-Seq_STOMACH_Mouse2.34812548
13TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.27019083
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.26064532
15SOX2_20726797_ChIP-Seq_SW620_Human2.21246897
16LXR_22158963_ChIP-Seq_LIVER_Mouse2.20018324
17VDR_22108803_ChIP-Seq_LS180_Human2.18749694
18GATA1_22025678_ChIP-Seq_K562_Human2.18567816
19RXR_22158963_ChIP-Seq_LIVER_Mouse2.17239757
20FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.16504269
21SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.15731904
22SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.10532867
23SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.07101959
24JARID2_20064375_ChIP-Seq_MESCs_Mouse2.00575541
25HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.99923225
26ESR2_21235772_ChIP-Seq_MCF-7_Human1.94453624
27EZH2_27304074_Chip-Seq_ESCs_Mouse1.90160137
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.89539483
29GATA6_25053715_ChIP-Seq_YYC3_Human1.87059405
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.84412038
31SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.80769050
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.80676082
33OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.80099336
34SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.78285201
35PPARA_22158963_ChIP-Seq_LIVER_Mouse1.77371861
36FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.75011691
37PPAR_26484153_Chip-Seq_NCI-H1993_Human1.74249227
38AR_21572438_ChIP-Seq_LNCaP_Human1.73509326
39EZH2_18974828_ChIP-Seq_MESCs_Mouse1.70873193
40RNF2_18974828_ChIP-Seq_MESCs_Mouse1.70873193
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.69691911
42POU3F2_20337985_ChIP-ChIP_501MEL_Human1.69315434
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.66885141
44MTF2_20144788_ChIP-Seq_MESCs_Mouse1.66784303
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.65014918
46ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.64885066
47EZH2_27294783_Chip-Seq_ESCs_Mouse1.63239592
48SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.63207042
49ESR1_21235772_ChIP-Seq_MCF-7_Human1.62069159
50CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.60423575
51SUZ12_27294783_Chip-Seq_ESCs_Mouse1.60170453
52ER_23166858_ChIP-Seq_MCF-7_Human1.57870785
53FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.57018633
54AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.56763856
55JARID2_20075857_ChIP-Seq_MESCs_Mouse1.56378617
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55978402
57CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55267425
58BP1_19119308_ChIP-ChIP_Hs578T_Human1.54408950
59FOXO3_23340844_ChIP-Seq_DLD1_Human1.51620894
60SMAD3_21741376_ChIP-Seq_EPCs_Human1.51299297
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.50581925
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.50257713
63PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.49139406
64GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48165699
65ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.47813977
66RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.47401795
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.45787625
68PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.45266465
69CTBP2_25329375_ChIP-Seq_LNCAP_Human1.43156242
70CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.43064305
71P300_19829295_ChIP-Seq_ESCs_Human1.41214975
72PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41071747
73ZNF217_24962896_ChIP-Seq_MCF-7_Human1.40518017
74PCGF2_27294783_Chip-Seq_ESCs_Mouse1.39334223
75RNF2_27304074_Chip-Seq_ESCs_Mouse1.38956896
76NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.38774681
77EGR1_23403033_ChIP-Seq_LIVER_Mouse1.38558786
78TCF4_18268006_ChIP-ChIP_LS174T_Human1.38045458
79IRF8_22096565_ChIP-ChIP_GC-B_Human1.36344426
80NANOG_18555785_Chip-Seq_ESCs_Mouse1.34993814
81PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33426396
82STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32385082
83HTT_18923047_ChIP-ChIP_STHdh_Human1.32381308
84AHR_22903824_ChIP-Seq_MCF-7_Human1.31480742
85FOXA2_19822575_ChIP-Seq_HepG2_Human1.31420267
86FLI1_27457419_Chip-Seq_LIVER_Mouse1.30003170
87PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30000561
88TAL1_26923725_Chip-Seq_HPCs_Mouse1.29906315
89GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.29573621
90CMYC_18555785_Chip-Seq_ESCs_Mouse1.29463506
91CDX2_22108803_ChIP-Seq_LS180_Human1.29296822
92EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.29251328
93SUZ12_18555785_Chip-Seq_ESCs_Mouse1.29142628
94SUZ12_27294783_Chip-Seq_NPCs_Mouse1.28902598
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28667714
96CLOCK_20551151_ChIP-Seq_293T_Human1.28483170
97FOXA1_25552417_ChIP-Seq_VCAP_Human1.26653939
98UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26432594
99NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.26314953
100EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26127258
101STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.26070349
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25979251
103TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25964083
104FUS_26573619_Chip-Seq_HEK293_Human1.23879457
105P300_18555785_Chip-Seq_ESCs_Mouse1.23477036
106FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.21967089
107CJUN_26792858_Chip-Seq_BT549_Human1.21886863
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.20156325
109EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.19345555
110EZH2_27294783_Chip-Seq_NPCs_Mouse1.19305890
111SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18883982
112RARG_19884340_ChIP-ChIP_MEFs_Mouse1.18167021
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18044118
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17746082
115P53_22387025_ChIP-Seq_ESCs_Mouse1.17635258
116RNF2_27304074_Chip-Seq_NSC_Mouse1.16701036
117PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.16658276
118THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15479547
119RUNX1_27457419_Chip-Seq_LIVER_Mouse1.14517830
120RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.14016437
121IRF1_19129219_ChIP-ChIP_H3396_Human1.13669202
122AR_21909140_ChIP-Seq_LNCAP_Human1.13262993
123EGR1_19032775_ChIP-ChIP_M12_Human1.12456652
124STAT3_18555785_Chip-Seq_ESCs_Mouse1.11588560
125SMAD4_21799915_ChIP-Seq_A2780_Human1.10511348
126E2F1_18555785_Chip-Seq_ESCs_Mouse1.10379062
127NFE2_27457419_Chip-Seq_LIVER_Mouse1.10343915
128RXR_22108803_ChIP-Seq_LS180_Human1.10301299
129STAT3_23295773_ChIP-Seq_U87_Human1.09965528
130NRF2_20460467_ChIP-Seq_MEFs_Mouse1.09734824
131NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.09734824
132ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.09031108
133HNF4A_19822575_ChIP-Seq_HepG2_Human1.08716641
134SMAD1_18555785_Chip-Seq_ESCs_Mouse1.07246832
135KDM2B_26808549_Chip-Seq_REH_Human1.06890994
136CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.06491879
137SOX2_18555785_Chip-Seq_ESCs_Mouse1.06077220
138TOP2B_26459242_ChIP-Seq_MCF-7_Human1.05824631
139KLF4_18555785_Chip-Seq_ESCs_Mouse1.05542815
140WT1_19549856_ChIP-ChIP_CCG9911_Human1.04985527
141DROSHA_22980978_ChIP-Seq_HELA_Human1.03046506
142LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02970753
143GATA2_21666600_ChIP-Seq_HMVEC_Human1.01989104
144SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.01104235
145OCT4_18555785_Chip-Seq_ESCs_Mouse1.00854073
146E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.00839881
147EP300_21415370_ChIP-Seq_HL-1_Mouse1.00721347
148GATA3_24758297_ChIP-Seq_MCF-7_Human1.00646170
149CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00334036
150CRX_20693478_ChIP-Seq_RETINA_Mouse1.00245063
151TP53_18474530_ChIP-ChIP_U2OS_Human0.99934201
152SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.98754289
153GATA2_19941826_ChIP-Seq_K562_Human0.97150511
154CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97097467
155SALL4_18804426_ChIP-ChIP_XEN_Mouse0.96825191
156IGF1R_20145208_ChIP-Seq_DFB_Human0.96735806
157NMYC_18555785_Chip-Seq_ESCs_Mouse0.96614366
158ARNT_22903824_ChIP-Seq_MCF-7_Human0.96613712
159LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96606896
160TCF4_23295773_ChIP-Seq_U87_Human0.96363673
161SOX9_24532713_ChIP-Seq_HFSC_Mouse0.94097503
162KLF5_25053715_ChIP-Seq_YYC3_Human0.91750712
163FOXM1_26456572_ChIP-Seq_MCF-7_Human0.91634535
164PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.91543187
165TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90643882
166KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.88268812
167PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.87713244
168CTNNB1_20460455_ChIP-Seq_HCT116_Human0.87070842
169TP63_23658742_ChIP-Seq_EP156T_Human0.84663953
170KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.84472694
171CBP_21632823_ChIP-Seq_H3396_Human0.84202776
172NR3C1_23031785_ChIP-Seq_PC12_Mouse0.82672071
173FOXA1_21572438_ChIP-Seq_LNCaP_Human0.81421725
174P63_26484246_Chip-Seq_KERATINOCYTES_Human0.81038011
175LXR_22292898_ChIP-Seq_THP-1_Human0.80631779
176TBX20_22328084_ChIP-Seq_HEART_Mouse0.80383618
177TBX20_22080862_ChIP-Seq_HEART_Mouse0.80383618
178NR3C1_21868756_ChIP-Seq_MCF10A_Human0.79667741
179BCAT_22108803_ChIP-Seq_LS180_Human0.78292468
180WT1_25993318_ChIP-Seq_PODOCYTE_Human0.77847174
181RAD21_21589869_ChIP-Seq_MESCs_Mouse0.77542132
182JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.77299588
183ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.77196910
184Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.76466073
185SMAD_19615063_ChIP-ChIP_OVARY_Human0.76221543
186GATA1_26923725_Chip-Seq_HPCs_Mouse0.75786748
187SA1_27219007_Chip-Seq_Bcells_Human0.73623889
188FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.73565505

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004019_abnormal_vitamin_homeostasis4.76886065
2MP0000920_abnormal_myelination4.59341940
3MP0003136_yellow_coat_color3.59443021
4MP0003950_abnormal_plasma_membrane3.35794941
5MP0001666_abnormal_nutrient_absorption3.11548040
6MP0003880_abnormal_central_pattern2.93303659
7MP0004742_abnormal_vestibular_system2.88262538
8MP0003183_abnormal_peptide_metabolism2.84086340
9MP0005171_absent_coat_pigmentation2.75621972
10MP0003690_abnormal_glial_cell2.74614471
11MP0004381_abnormal_hair_follicle2.64468232
12MP0005410_abnormal_fertilization2.48006746
13MP0005451_abnormal_body_composition2.41147524
14MP0004270_analgesia2.39056991
15MP0001529_abnormal_vocalization2.28954489
16MP0003195_calcinosis2.23706772
17MP0001486_abnormal_startle_reflex2.14807415
18MP0004885_abnormal_endolymph2.12596086
19MP0003329_amyloid_beta_deposits2.10074012
20MP0003806_abnormal_nucleotide_metabolis2.06818342
21MP0004264_abnormal_extraembryonic_tissu2.06218828
22MP0002272_abnormal_nervous_system2.04413814
23MP0005409_darkened_coat_color2.00603016
24MP0001905_abnormal_dopamine_level1.98201140
25MP0001485_abnormal_pinna_reflex1.97412273
26MP0009379_abnormal_foot_pigmentation1.96580951
27MP0004142_abnormal_muscle_tone1.96453333
28MP0003300_gastrointestinal_ulcer1.93604790
29MP0001661_extended_life_span1.83305433
30MP0000566_synostosis1.81694929
31MP0010155_abnormal_intestine_physiology1.79369715
32MP0000462_abnormal_digestive_system1.78139560
33MP0001324_abnormal_eye_pigmentation1.77606170
34MP0003634_abnormal_glial_cell1.69614066
35MP0004043_abnormal_pH_regulation1.67310707
36MP0005551_abnormal_eye_electrophysiolog1.67162159
37MP0008260_abnormal_autophagy1.62741143
38MP0005360_urolithiasis1.62015549
39MP0002064_seizures1.60836177
40MP0010678_abnormal_skin_adnexa1.58944698
41MP0002229_neurodegeneration1.58887769
42MP0000778_abnormal_nervous_system1.58748006
43MP0000383_abnormal_hair_follicle1.58258722
44MP0005423_abnormal_somatic_nervous1.57334977
45MP0008875_abnormal_xenobiotic_pharmacok1.55246117
46MP0010234_abnormal_vibrissa_follicle1.53055061
47MP0002139_abnormal_hepatobiliary_system1.52347290
48MP0010329_abnormal_lipoprotein_level1.44144635
49MP0003632_abnormal_nervous_system1.41957252
50MP0003011_delayed_dark_adaptation1.37203571
51MP0003879_abnormal_hair_cell1.35875054
52MP0000465_gastrointestinal_hemorrhage1.32823290
53MP0002102_abnormal_ear_morphology1.32767361
54MP0005085_abnormal_gallbladder_physiolo1.31794708
55MP0001963_abnormal_hearing_physiology1.31651220
56MP0004858_abnormal_nervous_system1.31505178
57MP0010352_gastrointestinal_tract_polyps1.31081588
58MP0001764_abnormal_homeostasis1.30195292
59MP0009745_abnormal_behavioral_response1.29766968
60MP0004134_abnormal_chest_morphology1.29535804
61MP0009643_abnormal_urine_homeostasis1.27065907
62MP0005248_abnormal_Harderian_gland1.26548420
63MP0008004_abnormal_stomach_pH1.26225761
64MP0000604_amyloidosis1.24251936
65MP0003938_abnormal_ear_development1.24111742
66MP0003868_abnormal_feces_composition1.21998944
67MP0009046_muscle_twitch1.21418458
68MP0000538_abnormal_urinary_bladder1.20344787
69MP0002734_abnormal_mechanical_nocicepti1.20054520
70MP0001501_abnormal_sleep_pattern1.18891835
71MP0001440_abnormal_grooming_behavior1.18308348
72MP0000026_abnormal_inner_ear1.14499508
73MP0003866_abnormal_defecation1.14449746
74MP0003631_nervous_system_phenotype1.13885173
75MP0005377_hearing/vestibular/ear_phenot1.09817319
76MP0003878_abnormal_ear_physiology1.09817319
77MP0002876_abnormal_thyroid_physiology1.07915373
78MP0002572_abnormal_emotion/affect_behav1.07612878
79MP0000490_abnormal_crypts_of1.07324117
80MP0003252_abnormal_bile_duct1.06156509
81MP0000537_abnormal_urethra_morphology1.05543114
82MP0002752_abnormal_somatic_nervous1.05515713
83MP0005195_abnormal_posterior_eye1.04932503
84MP0005408_hypopigmentation1.03229542
85MP0003635_abnormal_synaptic_transmissio1.01648292
86MP0003633_abnormal_nervous_system1.01614050
87MP0001346_abnormal_lacrimal_gland1.00594681
88MP0000647_abnormal_sebaceous_gland0.99752632
89MP0002882_abnormal_neuron_morphology0.99454350
90MP0004147_increased_porphyrin_level0.98778137
91MP0000477_abnormal_intestine_morphology0.97182591
92MP0000579_abnormal_nail_morphology0.96367428
93MP0002067_abnormal_sensory_capabilities0.95198812
94MP0001970_abnormal_pain_threshold0.94525041
95MP0005365_abnormal_bile_salt0.93989392
96MP0005166_decreased_susceptibility_to0.93047317
97MP0005645_abnormal_hypothalamus_physiol0.92904333
98MP0005379_endocrine/exocrine_gland_phen0.92754705
99MP0002136_abnormal_kidney_physiology0.92343886
100MP0000955_abnormal_spinal_cord0.90274610
101MP0009840_abnormal_foam_cell0.90011689
102MP0002066_abnormal_motor_capabilities/c0.89709077
103MP0000762_abnormal_tongue_morphology0.88726898
104MP0005670_abnormal_white_adipose0.88432683
105MP0002118_abnormal_lipid_homeostasis0.88417343
106MP0005391_vision/eye_phenotype0.87353430
107MP0005257_abnormal_intraocular_pressure0.86548090
108MP0005253_abnormal_eye_physiology0.86321936
109MP0003937_abnormal_limbs/digits/tail_de0.85730028
110MP0000467_abnormal_esophagus_morphology0.85359527
111MP0002938_white_spotting0.85135390
112MP0006072_abnormal_retinal_apoptosis0.83275346
113MP0002090_abnormal_vision0.82288413
114MP0003718_maternal_effect0.78233653
115MP0002063_abnormal_learning/memory/cond0.78194906
116MP0005332_abnormal_amino_acid0.77312897
117MP0000372_irregular_coat_pigmentation0.76243424
118MP0000678_abnormal_parathyroid_gland0.74577932
119MP0001177_atelectasis0.74209948
120MP0001188_hyperpigmentation0.73826890
121MP0010386_abnormal_urinary_bladder0.73714946
122MP0001756_abnormal_urination0.73308918
123MP0000631_abnormal_neuroendocrine_gland0.73152241
124MP0002295_abnormal_pulmonary_circulatio0.73019514
125MP0001851_eye_inflammation0.71262345
126MP0008569_lethality_at_weaning0.70613993
127MP0006292_abnormal_olfactory_placode0.70113577
128MP0002796_impaired_skin_barrier0.68546339
129MP0002733_abnormal_thermal_nociception0.68391160
130MP0001765_abnormal_ion_homeostasis0.67787527
131MP0001986_abnormal_taste_sensitivity0.66844773
132MP0001873_stomach_inflammation0.66457901
133MP0001340_abnormal_eyelid_morphology0.66215093
134MP0005083_abnormal_biliary_tract0.65841377
135MP0009250_abnormal_appendicular_skeleto0.65364671
136MP0001663_abnormal_digestive_system0.63881223
137MP0005636_abnormal_mineral_homeostasis0.63397537
138MP0004782_abnormal_surfactant_physiolog0.63279551
139MP0004924_abnormal_behavior0.61813522
140MP0005386_behavior/neurological_phenoty0.61813522
141MP0002735_abnormal_chemical_nociception0.61223846
142MP0001664_abnormal_digestion0.60569011
143MP0006276_abnormal_autonomic_nervous0.60393327
144MP0002138_abnormal_hepatobiliary_system0.60009009
145MP0002971_abnormal_brown_adipose0.59777600
146MP0006082_CNS_inflammation0.59685411
147MP0005381_digestive/alimentary_phenotyp0.57940503
148MP0001879_abnormal_lymphatic_vessel0.53903309
149MP0001881_abnormal_mammary_gland0.52113681
150MP0002098_abnormal_vibrissa_morphology0.51101520
151MP0000516_abnormal_urinary_system0.50621885
152MP0005367_renal/urinary_system_phenotyp0.50621885
153MP0000609_abnormal_liver_physiology0.50013335
154MP0002638_abnormal_pupillary_reflex0.49842046
155MP0005197_abnormal_uvea_morphology0.49461734
156MP0008775_abnormal_heart_ventricle0.47575998
157MP0000230_abnormal_systemic_arterial0.44788908
158MP0003724_increased_susceptibility_to0.44152359
159MP0005448_abnormal_energy_balance0.43982829
160MP0002822_catalepsy0.43897477
161MP0002166_altered_tumor_susceptibility0.43752569
162MP0002896_abnormal_bone_mineralization0.43284132
163MP0000249_abnormal_blood_vessel0.41245188
164MP0005584_abnormal_enzyme/coenzyme_acti0.40374152
165MP0006138_congestive_heart_failure0.40172170
166MP0001845_abnormal_inflammatory_respons0.39805730
167MP0005165_increased_susceptibility_to0.39722742
168MP0005023_abnormal_wound_healing0.38474690
169MP0005387_immune_system_phenotype0.38390522
170MP0001790_abnormal_immune_system0.38390522
171MP0009115_abnormal_fat_cell0.37994002
172MP0005174_abnormal_tail_pigmentation0.37455697
173MP0002249_abnormal_larynx_morphology0.36844327

Predicted human phenotypes

RankGene SetZ-score
1Decreased electroretinogram (ERG) amplitude (HP:0000654)7.97004754
2Abnormality of glutamine family amino acid metabolism (HP:0010902)7.86571761
3Choroideremia (HP:0001139)7.83253817
4Scotoma (HP:0000575)6.44003568
5Systemic lupus erythematosus (HP:0002725)6.18196291
6Degeneration of the lateral corticospinal tracts (HP:0002314)5.96389476
7Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.96389476
8Congenital stationary night blindness (HP:0007642)5.96247863
9Abnormality of proline metabolism (HP:0010907)5.70564828
10Hydroxyprolinuria (HP:0003080)5.70564828
11Parakeratosis (HP:0001036)5.54408665
12Abnormality of the fovea (HP:0000493)5.43986365
13Neurofibrillary tangles (HP:0002185)5.31222259
14Malnutrition (HP:0004395)5.00600775
15Pigmentary retinal degeneration (HP:0001146)4.91383409
16Bony spicule pigmentary retinopathy (HP:0007737)4.77077141
17Attenuation of retinal blood vessels (HP:0007843)4.59648713
18Abnormality of the corticospinal tract (HP:0002492)4.33618480
19Ulnar claw (HP:0001178)4.29398119
20Macular degeneration (HP:0000608)4.14563269
21Peripheral hypomyelination (HP:0007182)4.00504145
22Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.93396475
23Action tremor (HP:0002345)3.84871312
24Hypopigmentation of the fundus (HP:0007894)3.82456854
25Sensory axonal neuropathy (HP:0003390)3.77617066
26Complement deficiency (HP:0004431)3.67428200
27Cerebral inclusion bodies (HP:0100314)3.64504624
28Glomerulonephritis (HP:0000099)3.60075693
29Abnormal pupillary function (HP:0007686)3.42992911
30Abnormality of complement system (HP:0005339)3.35436412
31Ileus (HP:0002595)3.32053831
32Chronic diarrhea (HP:0002028)3.29831217
33Hypobetalipoproteinemia (HP:0003563)3.25339133
34Congenital ichthyosiform erythroderma (HP:0007431)3.24831332
35Abnormal rod and cone electroretinograms (HP:0008323)3.21247968
36Onion bulb formation (HP:0003383)3.10626895
37Abnormality of macular pigmentation (HP:0008002)3.10005604
38Abnormality of the vitamin B12 metabolism (HP:0004341)3.08952530
39Fat malabsorption (HP:0002630)3.06882946
40Posterior subcapsular cataract (HP:0007787)3.03148861
41Abnormality of vitamin B metabolism (HP:0004340)3.01343163
42Widely patent fontanelles and sutures (HP:0004492)3.00782208
43Hyperglycinuria (HP:0003108)3.00376362
44Nephritis (HP:0000123)2.97784641
45White forelock (HP:0002211)2.95910677
46Intrahepatic cholestasis (HP:0001406)2.94498769
47Patchy hypopigmentation of hair (HP:0011365)2.91560519
48Abnormality of aromatic amino acid family metabolism (HP:0004338)2.90539110
49Hemorrhage of the eye (HP:0011885)2.86832000
50Alacrima (HP:0000522)2.86098344
51Retinal dysplasia (HP:0007973)2.84841252
52Central scotoma (HP:0000603)2.82157222
53Hypoplastic pelvis (HP:0008839)2.77895640
54Cone-rod dystrophy (HP:0000548)2.77465947
55Abnormality of glycolysis (HP:0004366)2.74202995
56Increased serum pyruvate (HP:0003542)2.74202995
57Hypophosphatemic rickets (HP:0004912)2.71905131
58Insidious onset (HP:0003587)2.71039190
59Termporal pattern (HP:0011008)2.71039190
60Abnormality of vitamin metabolism (HP:0100508)2.67688927
61Spastic gait (HP:0002064)2.67330424
62Nausea (HP:0002018)2.66452130
63Keratoconus (HP:0000563)2.65283874
64Increased corneal curvature (HP:0100692)2.65283874
65Proximal tubulopathy (HP:0000114)2.64255276
66Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.63464841
67Increased CSF protein (HP:0002922)2.59589576
68Acanthocytosis (HP:0001927)2.58391663
69Prolonged partial thromboplastin time (HP:0003645)2.58113466
70Dynein arm defect of respiratory motile cilia (HP:0012255)2.58036875
71Absent/shortened dynein arms (HP:0200106)2.58036875
72Abnormal auditory evoked potentials (HP:0006958)2.57156895
73Nephrolithiasis (HP:0000787)2.56489810
74Subcapsular cataract (HP:0000523)2.55038927
75Absent septum pellucidum (HP:0001331)2.55024331
76Abnormality of monocarboxylic acid metabolism (HP:0010996)2.53365610
77Spastic paraparesis (HP:0002313)2.50195716
78Septo-optic dysplasia (HP:0100842)2.50113480
79Glycosuria (HP:0003076)2.49301222
80Abnormality of urine glucose concentration (HP:0011016)2.49301222
81Hyperlipoproteinemia (HP:0010980)2.47174415
82Progressive sensorineural hearing impairment (HP:0000408)2.47041127
83Abnormality of serine family amino acid metabolism (HP:0010894)2.44785349
84Abnormality of glycine metabolism (HP:0010895)2.44785349
85Leukodystrophy (HP:0002415)2.44213365
86Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.40319963
87Humeroradial synostosis (HP:0003041)2.36913467
88Synostosis involving the elbow (HP:0003938)2.36913467
89Supranuclear gaze palsy (HP:0000605)2.36648162
90Postural tremor (HP:0002174)2.36569422
91Hyperactive renin-angiotensin system (HP:0000841)2.35290682
92Dysmetria (HP:0001310)2.34026633
93Metabolic alkalosis (HP:0200114)2.32765561
94Cerebral hypomyelination (HP:0006808)2.32094624
95Vertebral compression fractures (HP:0002953)2.30716117
96Decreased lacrimation (HP:0000633)2.28272825
97Wide cranial sutures (HP:0010537)2.27748467
98Cupped ear (HP:0000378)2.27440072
99Erythroderma (HP:0001019)2.25379217
100Impaired proprioception (HP:0010831)2.24678437
101Increased purine levels (HP:0004368)2.23409641
102Hyperuricemia (HP:0002149)2.23409641
103Slow saccadic eye movements (HP:0000514)2.22750400
104Protrusio acetabuli (HP:0003179)2.21980980
105Intention tremor (HP:0002080)2.21019632
106Prolonged neonatal jaundice (HP:0006579)2.20278250
107Increased circulating renin level (HP:0000848)2.18795599
108Type II diabetes mellitus (HP:0005978)2.18096551
109Decreased circulating renin level (HP:0003351)2.16921355
110Anteriorly placed anus (HP:0001545)2.16883766
111Abnormality of the septum pellucidum (HP:0007375)2.15589038
112Abdominal distention (HP:0003270)2.14067946
113Hypoplasia of the iris (HP:0007676)2.13745584
114Focal segmental glomerulosclerosis (HP:0000097)2.13669547
115Hypomagnesemia (HP:0002917)2.10965497
116Cerebral hemorrhage (HP:0001342)2.10853543
117Clumsiness (HP:0002312)2.10414555
118Scanning speech (HP:0002168)2.08510697
119Renal Fanconi syndrome (HP:0001994)2.07729791
120Abnormal gallbladder physiology (HP:0012438)2.07384402
121Cholecystitis (HP:0001082)2.07384402
122Photophobia (HP:0000613)2.06365137
123Hepatosplenomegaly (HP:0001433)2.05496921
124Morphological abnormality of the inner ear (HP:0011390)2.04311199
125Abnormal ciliary motility (HP:0012262)2.02195715
126Thickened helices (HP:0000391)2.01870583
127Abnormality of purine metabolism (HP:0004352)2.01397501
128Bilateral sensorineural hearing impairment (HP:0008619)2.01113997
129Dyschromatopsia (HP:0007641)2.00905387
130Methylmalonic acidemia (HP:0002912)2.00676904
131Gout (HP:0001997)1.99989126
132Abnormality of aspartate family amino acid metabolism (HP:0010899)1.98551182
133Hypokalemic alkalosis (HP:0001949)1.98006593
134Potter facies (HP:0002009)1.98003438
135Facial shape deformation (HP:0011334)1.98003438
136Alkalosis (HP:0001948)1.96746232
137Abnormal respiratory motile cilium physiology (HP:0012261)1.96406939
138Stridor (HP:0010307)1.96014885
1393-Methylglutaconic aciduria (HP:0003535)1.95819026
140Autoamputation (HP:0001218)1.94738282
141Congenital sensorineural hearing impairment (HP:0008527)1.94307594
142Amyloidosis (HP:0011034)1.94019429
143Coronal craniosynostosis (HP:0004440)1.93199126
144Adrenal hypoplasia (HP:0000835)1.91752795
145Segmental peripheral demyelination/remyelination (HP:0003481)1.91584649
146Partial duplication of thumb phalanx (HP:0009944)1.91295953
147Chorioretinal atrophy (HP:0000533)1.91097059
148Confusion (HP:0001289)1.91036254
149Spastic tetraparesis (HP:0001285)1.91000933
150Ankle clonus (HP:0011448)1.90458319
151Aplasia involving bones of the upper limbs (HP:0009823)1.90444946
152Aplasia of the phalanges of the hand (HP:0009802)1.90444946
153Aplasia involving bones of the extremities (HP:0009825)1.90444946
154Xanthomatosis (HP:0000991)1.90123045
155Split foot (HP:0001839)1.90008766
156Decreased central vision (HP:0007663)1.88869494
157Steatorrhea (HP:0002570)1.88447082
158Abnormality of the phalanges of the 2nd finger (HP:0009541)1.88257242
159Villous atrophy (HP:0011473)1.86269014
160Abnormality of small intestinal villus morphology (HP:0011472)1.86269014
161Thin bony cortex (HP:0002753)1.85528354
162Partial agenesis of the corpus callosum (HP:0001338)1.83147817
163Upper limb muscle weakness (HP:0003484)1.82747050
164Conical tooth (HP:0000698)1.79942623
165Paraparesis (HP:0002385)1.78671977
166Anomalous pulmonary venous return (HP:0010772)1.78422456
167Polar cataract (HP:0010696)1.78290079
168Hypophosphatemia (HP:0002148)1.78227722
169Abnormal glucose tolerance (HP:0001952)1.77911729
170Hyperammonemia (HP:0001987)1.76165295
171Abnormality of methionine metabolism (HP:0010901)1.75671802
172Premature skin wrinkling (HP:0100678)1.74231433
173Hemiparesis (HP:0001269)1.73691302
174Bifid scrotum (HP:0000048)1.73551241
175Hyperventilation (HP:0002883)1.73403051
176Abnormality of the middle phalanges of the toes (HP:0010183)1.72987509
177Abnormality of renin-angiotensin system (HP:0000847)1.72402318
178Epidermoid cyst (HP:0200040)1.71502538
179Vascular calcification (HP:0004934)1.71356879
180Hyperparathyroidism (HP:0000843)1.70224053
181Peripheral demyelination (HP:0011096)1.70197190
182Beaking of vertebral bodies (HP:0004568)1.69080733
183Axonal loss (HP:0003447)1.68254985
184Akinesia (HP:0002304)1.67758211
185Abnormality of nucleobase metabolism (HP:0010932)1.67614820
186Abnormal respiratory motile cilium morphology (HP:0005938)1.67471465
187Abnormal respiratory epithelium morphology (HP:0012253)1.67471465

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.78162665
2ACVR1B5.24475762
3ERN14.80456876
4OXSR13.96776741
5EPHB13.42037321
6CASK3.03639238
7PKN12.96888200
8PBK2.85681725
9RIPK12.79150718
10STK242.63791126
11DDR22.62073947
12WNK42.58583474
13EPHA22.52490073
14PRKG22.46060785
15MAPKAPK52.35387856
16EPHB22.31186984
17BCR2.28598177
18EPHA32.07229803
19FGFR41.95629682
20MET1.88636933
21PNCK1.88043160
22LMTK21.86274656
23TNIK1.86256781
24MST41.81265521
25BLK1.72453684
26CLK11.65353244
27MAP3K121.64229195
28UHMK11.64058500
29PDK21.63810544
30MYLK1.63575521
31WNK11.62386405
32INSRR1.59233563
33TESK21.58847901
34FGFR21.53871395
35MAPK151.53135260
36CDK191.52326986
37BMPR1B1.45431139
38CSNK1A1L1.43149139
39CAMK2B1.42579306
40CSNK1G31.39024177
41NEK61.35642615
42FGR1.33603083
43MUSK1.24795572
44CAMK2D1.20516649
45IRAK21.20039646
46CSNK1G11.19663183
47ERBB41.14387390
48NTRK11.11447395
49MAP3K101.11444624
50ROCK21.11291894
51LIMK11.08292467
52DYRK21.06588443
53STK161.03466985
54CSNK1G21.02566031
55ICK1.02222288
56BMX0.99076117
57MAP3K20.97986854
58TGFBR20.97941371
59IRAK10.97871829
60FER0.96227544
61CAMK2G0.95226949
62PTK60.94625716
63EPHA40.92708657
64SGK2230.91888158
65SGK4940.91888158
66ERBB20.91720466
67CAMK2A0.91312746
68PRKCQ0.89905247
69GRK10.85278132
70PDGFRA0.84483339
71NLK0.81725940
72PAK30.81706847
73MARK20.81443355
74STK38L0.81342695
75WNK30.80762840
76PRPF4B0.79151856
77PRKCE0.79150894
78MELK0.77956467
79ADRBK20.76720656
80GRK70.76242952
81JAK10.73864789
82PRKCZ0.73236527
83TRPM70.72939734
84TYK20.72632577
85FGFR30.71905217
86MAP3K10.71193350
87PAK60.69937289
88MKNK10.64615248
89RPS6KA50.62903442
90STK30.62732479
91MARK10.62717113
92FES0.59615506
93BMPR20.59472498
94CDC42BPA0.59433773
95PRKD10.58178573
96PRKG10.57721157
97GSK3A0.57658436
98CAMK1G0.56843309
99MAP2K20.54555361
100CDK50.54538835
101PDPK10.54124825
102MAPK130.53531425
103FYN0.53010123
104PRKCA0.52337755
105TGFBR10.50720855
106PIK3CG0.50303217
107MKNK20.48629423
108PIK3CA0.48534564
109NEK90.48353869
110MATK0.47451660
111MST1R0.46967271
112CDK30.45932539
113CSNK1D0.45855154
114PRKCD0.45719566
115CDK140.45210519
116PRKACG0.44830518
117SRC0.44527741
118PHKG10.44232807
119PHKG20.44232807
120PTK20.43801875
121GRK60.42908128
122TYRO30.41341477
123PAK40.40332303
124YES10.39695537
125IRAK40.39651745
126CSNK1A10.39549722
127PRKACA0.38556542
128LRRK20.38296983
129MAPKAPK30.37815277
130PRKACB0.37396165
131CDK150.36953151
132STK110.35525305
133CDK11A0.34323630
134CSK0.33978508
135TIE10.33509904
136NME10.32225645
137CDK180.32006674
138OBSCN0.31883094
139MAPK70.31596217
140DYRK1A0.31581981
141RET0.31355587
142PRKAA20.29929107
143HIPK20.29244142
144ABL20.29225381
145MAPK120.28978409
146BRD40.28915011
147INSR0.27714132
148PDGFRB0.27575609
149JAK20.27476493
150PRKCB0.27383186
151PRKCI0.26465964
152MAPK110.25852538
153FRK0.25022648
154BTK0.24185082
155PDK10.23191680
156MAP3K30.22657058
157ADRBK10.22048512
158SMG10.20199240
159PIM10.17941239
160TESK10.17677785
161IGF1R0.17311018
162CDK90.16292210
163NEK10.15623415
164PRKAA10.13002048
165LATS10.11029074
166MAPK30.10648820

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004605.27923338
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009004.77536473
3Steroid biosynthesis_Homo sapiens_hsa001004.31562760
4Fatty acid elongation_Homo sapiens_hsa000624.25605472
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.45157339
6Renin-angiotensin system_Homo sapiens_hsa046143.01297800
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.85231840
8Ether lipid metabolism_Homo sapiens_hsa005652.75990684
9Histidine metabolism_Homo sapiens_hsa003402.55319813
10Sulfur metabolism_Homo sapiens_hsa009202.44772064
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.41097998
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.38784935
13Caffeine metabolism_Homo sapiens_hsa002322.31129556
14Protein digestion and absorption_Homo sapiens_hsa049742.07735423
15Starch and sucrose metabolism_Homo sapiens_hsa005002.00145130
16Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.91415523
17Fructose and mannose metabolism_Homo sapiens_hsa000511.88682736
18Nitrogen metabolism_Homo sapiens_hsa009101.87470072
19Linoleic acid metabolism_Homo sapiens_hsa005911.86467342
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.83381613
21Butanoate metabolism_Homo sapiens_hsa006501.83268218
22Vitamin B6 metabolism_Homo sapiens_hsa007501.82101832
23Protein export_Homo sapiens_hsa030601.81947106
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.77011752
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.70961570
26Galactose metabolism_Homo sapiens_hsa000521.65151032
27Oxidative phosphorylation_Homo sapiens_hsa001901.62030401
28Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.60147715
29Sphingolipid metabolism_Homo sapiens_hsa006001.58559674
30Carbohydrate digestion and absorption_Homo sapiens_hsa049731.55260642
31Primary bile acid biosynthesis_Homo sapiens_hsa001201.50337652
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.46595253
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.43030624
34Arginine and proline metabolism_Homo sapiens_hsa003301.37912545
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.34009887
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.26853630
37Fatty acid metabolism_Homo sapiens_hsa012121.16389562
38Chemical carcinogenesis_Homo sapiens_hsa052041.16146371
39Maturity onset diabetes of the young_Homo sapiens_hsa049501.16008138
40Asthma_Homo sapiens_hsa053101.15599759
41Peroxisome_Homo sapiens_hsa041461.15301249
422-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.13634323
43Axon guidance_Homo sapiens_hsa043601.11242127
44Arachidonic acid metabolism_Homo sapiens_hsa005901.08653900
45Vitamin digestion and absorption_Homo sapiens_hsa049771.07785840
46Propanoate metabolism_Homo sapiens_hsa006401.07031258
47Alzheimers disease_Homo sapiens_hsa050101.03573131
48Intestinal immune network for IgA production_Homo sapiens_hsa046721.01997260
49Complement and coagulation cascades_Homo sapiens_hsa046101.00056973
50Parkinsons disease_Homo sapiens_hsa050120.98440257
51Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.96708896
52Glutathione metabolism_Homo sapiens_hsa004800.94138670
53Tryptophan metabolism_Homo sapiens_hsa003800.92999519
54Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.92678176
55Serotonergic synapse_Homo sapiens_hsa047260.91899176
56beta-Alanine metabolism_Homo sapiens_hsa004100.90524644
57Tyrosine metabolism_Homo sapiens_hsa003500.87891441
58Glutamatergic synapse_Homo sapiens_hsa047240.86129817
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.84949832
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.84752464
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.83937744
62ABC transporters_Homo sapiens_hsa020100.83659014
63GABAergic synapse_Homo sapiens_hsa047270.82852956
64Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74509727
65PPAR signaling pathway_Homo sapiens_hsa033200.73794586
66Phototransduction_Homo sapiens_hsa047440.73137326
67* Retinol metabolism_Homo sapiens_hsa008300.72098023
68Allograft rejection_Homo sapiens_hsa053300.71633176
69Glycerophospholipid metabolism_Homo sapiens_hsa005640.69222735
70Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.69111725
71Folate biosynthesis_Homo sapiens_hsa007900.67605494
72Fat digestion and absorption_Homo sapiens_hsa049750.67148564
73Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.65775791
74Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.63931926
75Ovarian steroidogenesis_Homo sapiens_hsa049130.63885782
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.61582110
77Mineral absorption_Homo sapiens_hsa049780.61156491
78* Metabolic pathways_Homo sapiens_hsa011000.60114507
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60000201
80Fatty acid degradation_Homo sapiens_hsa000710.59967511
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.58453604
82Fatty acid biosynthesis_Homo sapiens_hsa000610.56885536
83Autoimmune thyroid disease_Homo sapiens_hsa053200.56431369
84Graft-versus-host disease_Homo sapiens_hsa053320.56391764
85Arginine biosynthesis_Homo sapiens_hsa002200.56361523
86Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.55232395
87Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.55156904
88Phenylalanine metabolism_Homo sapiens_hsa003600.54539691
89Staphylococcus aureus infection_Homo sapiens_hsa051500.53718309
90Morphine addiction_Homo sapiens_hsa050320.53624000
91Long-term depression_Homo sapiens_hsa047300.50501568
92Collecting duct acid secretion_Homo sapiens_hsa049660.50481197
93Nicotine addiction_Homo sapiens_hsa050330.49893967
94Pyruvate metabolism_Homo sapiens_hsa006200.49765516
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48951107
96Thyroid hormone synthesis_Homo sapiens_hsa049180.48109476
97Pentose phosphate pathway_Homo sapiens_hsa000300.47568213
98Bile secretion_Homo sapiens_hsa049760.46714941
99Cardiac muscle contraction_Homo sapiens_hsa042600.45566058
100Huntingtons disease_Homo sapiens_hsa050160.45375122
101Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44670856
102Rheumatoid arthritis_Homo sapiens_hsa053230.44136936
103Tight junction_Homo sapiens_hsa045300.43366993
104Ras signaling pathway_Homo sapiens_hsa040140.42655465
105Glycerolipid metabolism_Homo sapiens_hsa005610.42362159
106Vascular smooth muscle contraction_Homo sapiens_hsa042700.41736058
107Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41735799
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.38654014
109Vibrio cholerae infection_Homo sapiens_hsa051100.37351274
110Cocaine addiction_Homo sapiens_hsa050300.37169761
111Pertussis_Homo sapiens_hsa051330.36647355
112Sphingolipid signaling pathway_Homo sapiens_hsa040710.35879486
113Type I diabetes mellitus_Homo sapiens_hsa049400.35060431
114Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.34479040
115Renal cell carcinoma_Homo sapiens_hsa052110.33594682
116Pancreatic secretion_Homo sapiens_hsa049720.33505756
117Dorso-ventral axis formation_Homo sapiens_hsa043200.33445452
118Taste transduction_Homo sapiens_hsa047420.32252516
119Phagosome_Homo sapiens_hsa041450.30158246
120Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.29372435
121Systemic lupus erythematosus_Homo sapiens_hsa053220.29136708
122Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.28524240
123Salivary secretion_Homo sapiens_hsa049700.28483015
124Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.26859198
125Other glycan degradation_Homo sapiens_hsa005110.23710743
126Biosynthesis of amino acids_Homo sapiens_hsa012300.23710469
127Hedgehog signaling pathway_Homo sapiens_hsa043400.23288342
128Prion diseases_Homo sapiens_hsa050200.22830355
129Adipocytokine signaling pathway_Homo sapiens_hsa049200.21598599
130Carbon metabolism_Homo sapiens_hsa012000.18229515
131Renin secretion_Homo sapiens_hsa049240.17580331
132Antigen processing and presentation_Homo sapiens_hsa046120.17364904
133Inositol phosphate metabolism_Homo sapiens_hsa005620.10276068
134Leukocyte transendothelial migration_Homo sapiens_hsa046700.09959506
135Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.08787913
136Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.08303214
137Insulin resistance_Homo sapiens_hsa049310.07245192
138Viral myocarditis_Homo sapiens_hsa054160.07180399
139Insulin secretion_Homo sapiens_hsa049110.05850955
140Glucagon signaling pathway_Homo sapiens_hsa049220.05238943
141Adherens junction_Homo sapiens_hsa045200.04692437

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