BBS10

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: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1phospholipid homeostasis (GO:0055091)5.52940343
2alanine transport (GO:0032328)5.09139848
3triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.97513298
4limb bud formation (GO:0060174)4.48513424
5low-density lipoprotein particle remodeling (GO:0034374)4.46664195
6lysine catabolic process (GO:0006554)4.45119734
7lysine metabolic process (GO:0006553)4.45119734
8reverse cholesterol transport (GO:0043691)4.36445570
9alpha-linolenic acid metabolic process (GO:0036109)4.33129043
10dicarboxylic acid biosynthetic process (GO:0043650)4.21778216
11cGMP-mediated signaling (GO:0019934)4.18036462
12L-phenylalanine catabolic process (GO:0006559)4.17228888
13erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.17228888
14amino-acid betaine metabolic process (GO:0006577)4.10507787
15positive regulation of cellular amide metabolic process (GO:0034250)4.06516281
16macroautophagy (GO:0016236)4.01725194
17plasma lipoprotein particle assembly (GO:0034377)4.01163442
18lung vasculature development (GO:0060426)3.99011266
19phenol-containing compound catabolic process (GO:0019336)3.87419167
20phospholipid efflux (GO:0033700)3.84859570
21cysteine metabolic process (GO:0006534)3.81530092
22acrosome assembly (GO:0001675)3.76339963
23erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.70791350
24L-phenylalanine metabolic process (GO:0006558)3.70791350
25lactate metabolic process (GO:0006089)3.68013009
26aromatic amino acid family catabolic process (GO:0009074)3.67902126
27positive regulation of glycogen biosynthetic process (GO:0045725)3.66337601
28respiratory tube development (GO:0030323)3.65430240
29urea cycle (GO:0000050)3.63768732
30urea metabolic process (GO:0019627)3.63768732
31carnitine metabolic process (GO:0009437)3.63010967
32hormone catabolic process (GO:0042447)3.60950064
33serine family amino acid catabolic process (GO:0009071)3.60124835
34presynaptic membrane assembly (GO:0097105)3.59853397
35positive regulation of glycogen metabolic process (GO:0070875)3.58297981
36protein-lipid complex assembly (GO:0065005)3.57391038
37macromolecular complex remodeling (GO:0034367)3.56898986
38plasma lipoprotein particle remodeling (GO:0034369)3.56898986
39protein-lipid complex remodeling (GO:0034368)3.56898986
40acrosome reaction (GO:0007340)3.53123953
41very-low-density lipoprotein particle assembly (GO:0034379)3.51848766
42bile acid biosynthetic process (GO:0006699)3.51139823
43cholesterol efflux (GO:0033344)3.51086162
44high-density lipoprotein particle remodeling (GO:0034375)3.48918259
45regulation of glycogen (starch) synthase activity (GO:2000465)3.47588738
46plasma lipoprotein particle organization (GO:0071827)3.43433792
47flavonoid metabolic process (GO:0009812)3.38709814
48glyoxylate metabolic process (GO:0046487)3.35889962
49cellular response to cholesterol (GO:0071397)3.35462955
50homocysteine metabolic process (GO:0050667)3.34154976
51cell migration in hindbrain (GO:0021535)3.33516129
52skeletal muscle organ development (GO:0060538)3.30687425
53cilium or flagellum-dependent cell motility (GO:0001539)3.29301030
54tryptophan metabolic process (GO:0006568)3.26190740
55pyrimidine nucleobase catabolic process (GO:0006208)3.25644371
56histone H2B ubiquitination (GO:0033523)3.25301665
57protein-lipid complex subunit organization (GO:0071825)3.21742051
58cell differentiation involved in metanephros development (GO:0072202)3.21132329
59sulfur amino acid catabolic process (GO:0000098)3.21035807
60calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.20151562
61L-serine transport (GO:0015825)3.20150025
62fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.19898248
63indole-containing compound catabolic process (GO:0042436)3.19838841
64indolalkylamine catabolic process (GO:0046218)3.19838841
65tryptophan catabolic process (GO:0006569)3.19838841
66positive regulation of renal sodium excretion (GO:0035815)3.19303078
67positive regulation of fatty acid oxidation (GO:0046321)3.18541772
68ribonucleoprotein complex disassembly (GO:0032988)3.17337853
69epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.16243726
70negative regulation of astrocyte differentiation (GO:0048712)3.15392704
71presynaptic membrane organization (GO:0097090)3.15175766
72coenzyme catabolic process (GO:0009109)3.14348623
73nitrogen cycle metabolic process (GO:0071941)3.13670622
74cerebral cortex radially oriented cell migration (GO:0021799)3.13244446
75alpha-amino acid catabolic process (GO:1901606)3.12357306
76glutamate metabolic process (GO:0006536)3.10923551
77ganglion development (GO:0061548)3.10266378
78bile acid metabolic process (GO:0008206)3.08094369
79cell wall macromolecule metabolic process (GO:0044036)3.07940193
80cell wall macromolecule catabolic process (GO:0016998)3.07940193
81negative regulation of fibrinolysis (GO:0051918)3.06148919
82cellular modified amino acid catabolic process (GO:0042219)3.04515296
83positive regulation of dendritic spine morphogenesis (GO:0061003)3.04487970
84diaphragm development (GO:0060539)3.04138058
85regulation of protein activation cascade (GO:2000257)3.03859559
86fusion of sperm to egg plasma membrane (GO:0007342)3.02717796
87kynurenine metabolic process (GO:0070189)3.02519998
88olfactory bulb development (GO:0021772)3.02099165
89negative regulation of sterol transport (GO:0032372)3.01762132
90negative regulation of cholesterol transport (GO:0032375)3.01762132
91retinal rod cell development (GO:0046548)3.01111066
92neural tube formation (GO:0001841)3.00917318
93intraciliary transport (GO:0042073)3.00450203
94cytoplasmic mRNA processing body assembly (GO:0033962)2.99747091
95basic amino acid transport (GO:0015802)2.99053938
96axoneme assembly (GO:0035082)2.98203221
97regulation of cholesterol biosynthetic process (GO:0045540)2.97892815
98lipoprotein metabolic process (GO:0042157)2.97641773
99cerebral cortex cell migration (GO:0021795)2.97641662
100lipoprotein transport (GO:0042953)2.95946216
101ethanol oxidation (GO:0006069)2.95380358
102regulation of heat generation (GO:0031650)2.95014423
103motile cilium assembly (GO:0044458)2.94510417
104morphogenesis of an epithelial sheet (GO:0002011)2.94195136
105negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.93326404
106glial cell proliferation (GO:0014009)2.92893125
107negative regulation of stress fiber assembly (GO:0051497)2.91101966
108regulation of fibrinolysis (GO:0051917)2.90763211
109paraxial mesoderm development (GO:0048339)2.90445609
110ADP metabolic process (GO:0046031)2.89993806
111regulation of cholesterol esterification (GO:0010872)2.89696223
112aspartate family amino acid catabolic process (GO:0009068)2.88784021
113glycine metabolic process (GO:0006544)2.88188523
114regulation of apoptotic cell clearance (GO:2000425)2.88079248
115protein localization to synapse (GO:0035418)2.87658186
116regulation of cholesterol metabolic process (GO:0090181)2.86281778
117tachykinin receptor signaling pathway (GO:0007217)2.84347820
118forebrain neuron differentiation (GO:0021879)2.82588169
119regulation of complement activation (GO:0030449)2.82470053
120serine family amino acid metabolic process (GO:0009069)2.81465747
121nuclear pore organization (GO:0006999)2.81277543
122axonal fasciculation (GO:0007413)2.80713895
123organelle disassembly (GO:1903008)2.80701989
124valine metabolic process (GO:0006573)2.79754269
125serine transport (GO:0032329)2.79632016
126cellular potassium ion homeostasis (GO:0030007)2.79576930
127neurotransmitter-gated ion channel clustering (GO:0072578)2.74938208
128neuron cell-cell adhesion (GO:0007158)2.74464599
129neuronal action potential propagation (GO:0019227)2.71569397
130L-serine metabolic process (GO:0006563)2.70021809
131histone H2A acetylation (GO:0043968)2.65379303
132thyroid hormone generation (GO:0006590)2.63195587
133regulation of growth hormone secretion (GO:0060123)2.59558375
134gamma-aminobutyric acid transport (GO:0015812)2.59413534
135neuron recognition (GO:0008038)2.58654727
136retinal ganglion cell axon guidance (GO:0031290)2.56814149
137establishment of mitochondrion localization (GO:0051654)2.53726978
138nuclear pore complex assembly (GO:0051292)2.50542965
139cell fate commitment involved in formation of primary germ layer (GO:0060795)2.50294659
140positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.46899230
141regulation of development, heterochronic (GO:0040034)2.45854753
142positive regulation of mitochondrial fission (GO:0090141)2.43891929
143response to nitrosative stress (GO:0051409)2.42978550
144DNA integration (GO:0015074)2.42824098
145layer formation in cerebral cortex (GO:0021819)2.42694370
146nucleobase catabolic process (GO:0046113)2.42102072
147DNA double-strand break processing (GO:0000729)2.41602290
148spermatid nucleus differentiation (GO:0007289)2.41251289
149neuronal stem cell maintenance (GO:0097150)2.40735206
150neural crest cell development (GO:0014032)2.39730476
151RNA polyadenylation (GO:0043631)2.38293543
152ephrin receptor signaling pathway (GO:0048013)2.35590861
153glucocorticoid receptor signaling pathway (GO:0042921)2.31430408
154mRNA polyadenylation (GO:0006378)2.24389922
155regulation of helicase activity (GO:0051095)2.21929125
156cerebellar Purkinje cell layer development (GO:0021680)2.20941742
157biotin metabolic process (GO:0006768)2.20235756
158regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.18180256
159coenzyme A metabolic process (GO:0015936)2.16563323
160G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.16082709
161postsynaptic membrane organization (GO:0001941)2.15992994
162magnesium ion transport (GO:0015693)2.15868518
163histone monoubiquitination (GO:0010390)2.15520744
164regulation of dendritic spine morphogenesis (GO:0061001)2.15227976
165mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.13854094
166positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.13854094
167peroxisome organization (GO:0007031)2.13295401
168hippocampus development (GO:0021766)2.13134644
169fatty acid elongation (GO:0030497)2.12940416
170centrosome localization (GO:0051642)2.12640293
171mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.12621437
172G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.12570444
173regulation of coenzyme metabolic process (GO:0051196)2.12157944
174regulation of cofactor metabolic process (GO:0051193)2.12157944
175histone ubiquitination (GO:0016574)2.10837202
176COPI coating of Golgi vesicle (GO:0048205)2.10040052
177Golgi transport vesicle coating (GO:0048200)2.10040052
178regulation of non-canonical Wnt signaling pathway (GO:2000050)2.09980748
179* cilium assembly (GO:0042384)2.09156267
180microtubule anchoring (GO:0034453)2.09005547
181branched-chain amino acid catabolic process (GO:0009083)2.08833755
182appendage development (GO:0048736)2.08190006
183limb development (GO:0060173)2.08190006
184regulation of feeding behavior (GO:0060259)2.07487121
185synapse assembly (GO:0007416)2.05746614
186* cilium organization (GO:0044782)2.05728555
187cholesterol biosynthetic process (GO:0006695)2.05464401
188protein localization to peroxisome (GO:0072662)2.05359023
189protein targeting to peroxisome (GO:0006625)2.05359023
190establishment of protein localization to peroxisome (GO:0072663)2.05359023
191axon extension (GO:0048675)2.04522259
192dendrite morphogenesis (GO:0048813)2.02182736
193gastrulation with mouth forming second (GO:0001702)2.01230274
194mitotic sister chromatid cohesion (GO:0007064)2.01223888
195lens morphogenesis in camera-type eye (GO:0002089)2.00875379
196establishment of integrated proviral latency (GO:0075713)2.00575198
197Notch signaling involved in heart development (GO:0061314)1.99429377
198regulation of RNA export from nucleus (GO:0046831)1.98278269
199Golgi to endosome transport (GO:0006895)1.98110137

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.36202501
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.83038633
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.30946973
4EGR1_23403033_ChIP-Seq_LIVER_Mouse4.21799278
5* LXR_22158963_ChIP-Seq_LIVER_Mouse4.09054399
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.87226897
7PPARA_22158963_ChIP-Seq_LIVER_Mouse3.84686571
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.63352168
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.33488697
10AR_21572438_ChIP-Seq_LNCaP_Human2.81916195
11FOXM1_23109430_ChIP-Seq_U2OS_Human2.67447848
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.64912884
13GBX2_23144817_ChIP-Seq_PC3_Human2.48155192
14TAF15_26573619_Chip-Seq_HEK293_Human2.45384130
15ZNF274_21170338_ChIP-Seq_K562_Hela2.41342790
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.40693284
17IGF1R_20145208_ChIP-Seq_DFB_Human2.36122683
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.35324037
19CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.34592588
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.14454846
21CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.14122475
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.07669142
23BCAT_22108803_ChIP-Seq_LS180_Human2.05290411
24Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.01262063
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.93855189
26MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.90862161
27SALL1_21062744_ChIP-ChIP_HESCs_Human1.85542382
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81536707
29PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76835991
30* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.75162688
31PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.73642229
32EZH2_22144423_ChIP-Seq_EOC_Human1.72600152
33NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.66566145
34TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.64412026
35ELK1_19687146_ChIP-ChIP_HELA_Human1.59067279
36TBX3_20139965_ChIP-Seq_ESCs_Mouse1.55579623
37TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.54414999
38FUS_26573619_Chip-Seq_HEK293_Human1.53747449
39PADI4_21655091_ChIP-ChIP_MCF-7_Human1.52360366
40TBX3_20139965_ChIP-Seq_MESCs_Mouse1.51571030
41RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.50183859
42* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.45605271
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.43370402
44CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41914017
45SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.40475092
46CLOCK_20551151_ChIP-Seq_293T_Human1.40361619
47CDX2_19796622_ChIP-Seq_MESCs_Mouse1.40056710
48RNF2_27304074_Chip-Seq_NSC_Mouse1.38256857
49PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.36400030
50POU5F1_16153702_ChIP-ChIP_HESCs_Human1.34694963
51HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.34174170
52NRF2_20460467_ChIP-Seq_MEFs_Mouse1.32740705
53NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.32740705
54SMAD4_21799915_ChIP-Seq_A2780_Human1.31885048
55FOXA2_19822575_ChIP-Seq_HepG2_Human1.30139162
56TP53_18474530_ChIP-ChIP_U2OS_Human1.29141144
57YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26819391
58SOX9_26525672_Chip-Seq_HEART_Mouse1.26331682
59E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26286899
60P300_19829295_ChIP-Seq_ESCs_Human1.24873939
61HIF1A_21447827_ChIP-Seq_MCF-7_Human1.23747557
62EP300_21415370_ChIP-Seq_HL-1_Mouse1.23678235
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.23072651
64KDM2B_26808549_Chip-Seq_REH_Human1.22814349
65TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.22203303
66E2F4_17652178_ChIP-ChIP_JURKAT_Human1.22080934
67GABP_17652178_ChIP-ChIP_JURKAT_Human1.21924539
68POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.21352608
69TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21352608
70SCL_19346495_ChIP-Seq_HPC-7_Human1.19689506
71PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19628984
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.18853774
73NANOG_18555785_Chip-Seq_ESCs_Mouse1.17772632
74STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.17363395
75SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.17119672
76MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.17105838
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17020741
78POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17004446
79EWS_26573619_Chip-Seq_HEK293_Human1.16932992
80FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.16178112
81PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16148930
82* SMAD3_21741376_ChIP-Seq_EPCs_Human1.15331593
83ER_23166858_ChIP-Seq_MCF-7_Human1.14982599
84KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.14695501
85* FLI1_21867929_ChIP-Seq_TH2_Mouse1.11056492
86TP53_16413492_ChIP-PET_HCT116_Human1.10824951
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10752809
88EZH2_27294783_Chip-Seq_NPCs_Mouse1.09942620
89KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08539988
90FLI1_27457419_Chip-Seq_LIVER_Mouse1.08091726
91* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.07731268
92KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07677580
93HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07582087
94FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.06555859
95POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.05521340
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05339293
97CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.04447516
98RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.03951218
99MYCN_18555785_ChIP-Seq_MESCs_Mouse1.03643483
100ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02871714
101CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.01078051
102HNF4A_19822575_ChIP-Seq_HepG2_Human1.00758579
103TAL1_26923725_Chip-Seq_HPCs_Mouse1.00598460
104VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.99981692
105ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99938540
106FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.99737534
107* RUNX2_22187159_ChIP-Seq_PCA_Human0.99613200
108MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.99198850
109JUN_21703547_ChIP-Seq_K562_Human0.97638070
110PIAS1_25552417_ChIP-Seq_VCAP_Human0.97539657
111YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97074504
112EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.95939051
113ISL1_27105846_Chip-Seq_CPCs_Mouse0.94544997
114SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.94331803
115* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94085955
116E2F7_22180533_ChIP-Seq_HELA_Human0.92681303
117RXRA_24833708_ChIP-Seq_LIVER_Mouse0.92560448
118AR_25329375_ChIP-Seq_VCAP_Human0.92529695
119SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.92040486
120ELK4_26923725_Chip-Seq_MESODERM_Mouse0.92034204
121* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91831599
122AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.91520686
123* TCF4_22108803_ChIP-Seq_LS180_Human0.89856428
124* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.89643447
125NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89474242
126TCF4_23295773_ChIP-Seq_U87_Human0.88712880
127TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.87574787
128NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87103458
129E2F1_18555785_Chip-Seq_ESCs_Mouse0.87053616
130BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.86058121
131NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.85902397
132TOP2B_26459242_ChIP-Seq_MCF-7_Human0.85899826
133TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.85554441
134WT1_19549856_ChIP-ChIP_CCG9911_Human0.85125852
135* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.84616617
136* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.83832797
137EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.83682328
138SALL4_18804426_ChIP-ChIP_XEN_Mouse0.83613985
139VDR_24787735_ChIP-Seq_THP-1_Human0.83017090
140NANOG_16518401_ChIP-PET_MESCs_Mouse0.82551279
141CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82306913
142CTBP1_25329375_ChIP-Seq_LNCAP_Human0.81602282
143* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.80823258
144TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80762208
145SOX2_21211035_ChIP-Seq_LN229_Gbm0.80349782
146STAT3_23295773_ChIP-Seq_U87_Human0.79799988
147CBP_20019798_ChIP-Seq_JUKART_Human0.79738613
148IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.79738613
149SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79085599
150* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.78938989
151POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.78824162
152SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.78776451
153* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.78014609
154AR_21909140_ChIP-Seq_LNCAP_Human0.77897304
155KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.77868832
156RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77207429

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.46955176
2MP0002139_abnormal_hepatobiliary_system5.37641769
3MP0005360_urolithiasis4.63332885
4MP0003136_yellow_coat_color4.46366251
5MP0005174_abnormal_tail_pigmentation4.03917393
6MP0005171_absent_coat_pigmentation3.48684242
7MP0005365_abnormal_bile_salt3.48322913
8MP0008875_abnormal_xenobiotic_pharmacok3.04298720
9MP0005085_abnormal_gallbladder_physiolo3.02463560
10MP0009840_abnormal_foam_cell3.02288712
11MP0005410_abnormal_fertilization2.82802260
12MP0000015_abnormal_ear_pigmentation2.82719307
13MP0003806_abnormal_nucleotide_metabolis2.67164805
14MP0008789_abnormal_olfactory_epithelium2.48355090
15MP0003011_delayed_dark_adaptation2.24636310
16MP0002233_abnormal_nose_morphology2.24361215
17MP0010329_abnormal_lipoprotein_level2.23653633
18MP0003172_abnormal_lysosome_physiology2.19078616
19MP0005499_abnormal_olfactory_system2.09515233
20MP0005394_taste/olfaction_phenotype2.09515233
21MP0009384_cardiac_valve_regurgitation2.09239485
22MP0005083_abnormal_biliary_tract2.02895609
23MP0001984_abnormal_olfaction2.02798864
24MP0003941_abnormal_skin_development2.00828692
25MP0002254_reproductive_system_inflammat1.97158199
26MP0003705_abnormal_hypodermis_morpholog1.94620993
27MP0001299_abnormal_eye_distance/1.94608224
28MP0000778_abnormal_nervous_system1.89449119
29MP0003937_abnormal_limbs/digits/tail_de1.88220113
30MP0005551_abnormal_eye_electrophysiolog1.82445766
31MP0000566_synostosis1.81105822
32MP0002822_catalepsy1.79148827
33MP0001324_abnormal_eye_pigmentation1.78487085
34MP0003646_muscle_fatigue1.78073326
35MP0002234_abnormal_pharynx_morphology1.77592941
36MP0004233_abnormal_muscle_weight1.77312105
37MP0005332_abnormal_amino_acid1.75726263
38MP0004858_abnormal_nervous_system1.74862958
39MP0003755_abnormal_palate_morphology1.71721944
40MP0005367_renal/urinary_system_phenotyp1.69391463
41MP0000516_abnormal_urinary_system1.69391463
42MP0000604_amyloidosis1.65627215
43MP0009697_abnormal_copulation1.62692908
44MP0003122_maternal_imprinting1.61866567
45MP0003252_abnormal_bile_duct1.59843435
46MP0005623_abnormal_meninges_morphology1.59729890
47MP0004270_analgesia1.59532991
48MP0003279_aneurysm1.58622560
49MP0002009_preneoplasia1.54071821
50MP0004859_abnormal_synaptic_plasticity1.51372376
51MP0001529_abnormal_vocalization1.44459219
52MP0001286_abnormal_eye_development1.43432788
53MP0002751_abnormal_autonomic_nervous1.41361121
54MP0005253_abnormal_eye_physiology1.40968319
55MP0003221_abnormal_cardiomyocyte_apopto1.39222513
56MP0000609_abnormal_liver_physiology1.38541906
57MP0000647_abnormal_sebaceous_gland1.38428350
58MP0003385_abnormal_body_wall1.36026556
59MP0000537_abnormal_urethra_morphology1.33791193
60MP0002092_abnormal_eye_morphology1.33555242
61MP0000383_abnormal_hair_follicle1.32739264
62MP0003880_abnormal_central_pattern1.32202254
63MP0003115_abnormal_respiratory_system1.31789019
64MP0006292_abnormal_olfactory_placode1.30690064
65MP0003935_abnormal_craniofacial_develop1.29309238
66MP0002118_abnormal_lipid_homeostasis1.28189940
67MP0003868_abnormal_feces_composition1.27731593
68MP0006054_spinal_hemorrhage1.27170776
69MP0004197_abnormal_fetal_growth/weight/1.26876049
70MP0003121_genomic_imprinting1.26105557
71MP0008932_abnormal_embryonic_tissue1.25821096
72MP0003861_abnormal_nervous_system1.25468700
73MP0005647_abnormal_sex_gland1.25281700
74MP0006276_abnormal_autonomic_nervous1.24899427
75MP0010678_abnormal_skin_adnexa1.24867019
76MP0000955_abnormal_spinal_cord1.23766356
77MP0002127_abnormal_cardiovascular_syste1.23318738
78MP0000049_abnormal_middle_ear1.18784486
79MP0005197_abnormal_uvea_morphology1.16044677
80MP0001661_extended_life_span1.13690090
81MP0003183_abnormal_peptide_metabolism1.12211831
82MP0003690_abnormal_glial_cell1.11631586
83MP0000428_abnormal_craniofacial_morphol1.11567200
84MP0003890_abnormal_embryonic-extraembry1.11366843
85MP0004811_abnormal_neuron_physiology1.10160527
86MP0002084_abnormal_developmental_patter1.09369563
87MP0003123_paternal_imprinting1.09229487
88MP0002102_abnormal_ear_morphology1.08564821
89MP0006072_abnormal_retinal_apoptosis1.07427088
90MP0001177_atelectasis1.07105646
91MP0000631_abnormal_neuroendocrine_gland1.07028938
92MP0000534_abnormal_ureter_morphology1.05627195
93MP0001346_abnormal_lacrimal_gland1.05367414
94MP0003567_abnormal_fetal_cardiomyocyte1.03282373
95MP0002152_abnormal_brain_morphology1.01851493
96MP0004130_abnormal_muscle_cell0.98333359
97MP0000371_diluted_coat_color0.98195487
98MP0002971_abnormal_brown_adipose0.97469926
99MP0003950_abnormal_plasma_membrane0.96422519
100MP0003329_amyloid_beta_deposits0.95184279
101MP0002095_abnormal_skin_pigmentation0.94990124
102MP0005248_abnormal_Harderian_gland0.94093808
103MP0005670_abnormal_white_adipose0.93717366
104MP0009115_abnormal_fat_cell0.93379002
105MP0005584_abnormal_enzyme/coenzyme_acti0.92112567
106MP0002938_white_spotting0.91826938
107MP0003698_abnormal_male_reproductive0.91072518
108MP0005408_hypopigmentation0.90612004
109MP0003938_abnormal_ear_development0.89271195
110MP0002332_abnormal_exercise_endurance0.89156153
111MP0002736_abnormal_nociception_after0.88904078
112MP0000432_abnormal_head_morphology0.88099649
113MP0003635_abnormal_synaptic_transmissio0.86580992
114MP0002085_abnormal_embryonic_tissue0.86557032
115MP0002081_perinatal_lethality0.84774479
116MP0002111_abnormal_tail_morphology0.83688363
117MP0004142_abnormal_muscle_tone0.83549508
118MP0002184_abnormal_innervation0.83013860
119MP0001340_abnormal_eyelid_morphology0.83008094
120MP0005319_abnormal_enzyme/_coenzyme0.82240449
121MP0005187_abnormal_penis_morphology0.81006976
122MP0002177_abnormal_outer_ear0.79886751
123MP0004957_abnormal_blastocyst_morpholog0.79718679
124MP0002882_abnormal_neuron_morphology0.79577446
125MP0004019_abnormal_vitamin_homeostasis0.78911748
126MP0001293_anophthalmia0.77868047
127MP0003566_abnormal_cell_adhesion0.77818053
128MP0002063_abnormal_learning/memory/cond0.77389700
129MP0004272_abnormal_basement_membrane0.77313101
130MP0005058_abnormal_lysosome_morphology0.77293359
131MP0009046_muscle_twitch0.77259906
132MP0001270_distended_abdomen0.77138579
133MP0002752_abnormal_somatic_nervous0.76719832
134MP0002116_abnormal_craniofacial_bone0.75780471
135MP0002075_abnormal_coat/hair_pigmentati0.75449874
136MP0001486_abnormal_startle_reflex0.74429846
137MP0001853_heart_inflammation0.73924057
138MP0002090_abnormal_vision0.73456587
139MP0003984_embryonic_growth_retardation0.73177996
140MP0000762_abnormal_tongue_morphology0.72779449
141MP0002249_abnormal_larynx_morphology0.72510865
142MP0000579_abnormal_nail_morphology0.72173214
143MP0000026_abnormal_inner_ear0.71750244
144MP0005380_embryogenesis_phenotype0.71397310
145MP0001672_abnormal_embryogenesis/_devel0.71397310
146MP0002109_abnormal_limb_morphology0.70611878
147MP0009250_abnormal_appendicular_skeleto0.69674627
148MP0001929_abnormal_gametogenesis0.69350521
149MP0003075_altered_response_to0.69117353
150MP0005195_abnormal_posterior_eye0.69034317
151MP0003191_abnormal_cellular_cholesterol0.68773079
152MP0001915_intracranial_hemorrhage0.68123394
153MP0005646_abnormal_pituitary_gland0.66699567
154MP0002269_muscular_atrophy0.66014580
155MP0003634_abnormal_glial_cell0.63968502
156MP0003942_abnormal_urinary_system0.63100713
157MP0003656_abnormal_erythrocyte_physiolo0.62459143
158MP0001502_abnormal_circadian_rhythm0.61525780
159MP0005166_decreased_susceptibility_to0.60905020
160MP0002653_abnormal_ependyma_morphology0.60806490
161MP0005391_vision/eye_phenotype0.59885868
162MP0009672_abnormal_birth_weight0.59170381
163MP0000427_abnormal_hair_cycle0.58923114
164MP0001666_abnormal_nutrient_absorption0.58800861
165MP0005075_abnormal_melanosome_morpholog0.58604126
166MP0000639_abnormal_adrenal_gland0.57177374
167MP0001764_abnormal_homeostasis0.55243586
168MP0001440_abnormal_grooming_behavior0.54385398
169MP0002128_abnormal_blood_circulation0.53627092
170MP0002638_abnormal_pupillary_reflex0.51796548
171MP0010386_abnormal_urinary_bladder0.51277991
172MP0002229_neurodegeneration0.50852554
173MP0009703_decreased_birth_body0.49227392
174MP0002166_altered_tumor_susceptibility0.48871055
175MP0010094_abnormal_chromosome_stability0.48758074
176MP0002697_abnormal_eye_size0.48580012
177MP0005395_other_phenotype0.48577508
178MP0002282_abnormal_trachea_morphology0.48467070

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)4.17977695
2Xanthomatosis (HP:0000991)4.12003108
3Albinism (HP:0001022)3.97624474
4Deep venous thrombosis (HP:0002625)3.63066307
5Papillary thyroid carcinoma (HP:0002895)3.61458713
6Hypoalphalipoproteinemia (HP:0003233)3.60991666
7Hyperglycinuria (HP:0003108)3.42461551
8Ketosis (HP:0001946)3.38393103
9Hyperlipoproteinemia (HP:0010980)3.35074286
10Congenital stationary night blindness (HP:0007642)3.27185889
11Generalized hypopigmentation (HP:0007513)3.24944030
12Hypobetalipoproteinemia (HP:0003563)3.24195297
13Abnormality of monocarboxylic acid metabolism (HP:0010996)3.24117287
14Hypolipoproteinemia (HP:0010981)3.23540065
15Prolonged partial thromboplastin time (HP:0003645)3.17380544
16Supernumerary spleens (HP:0009799)3.17379011
17Abnormality of aromatic amino acid family metabolism (HP:0004338)3.09823874
18Epidermoid cyst (HP:0200040)3.07108452
19Abnormality of the axillary hair (HP:0100134)3.00017940
20Abnormality of secondary sexual hair (HP:0009888)3.00017940
21Abnormality of the labia minora (HP:0012880)2.96270043
22Abnormality of serine family amino acid metabolism (HP:0010894)2.91050372
23Abnormality of glycine metabolism (HP:0010895)2.91050372
24Hematochezia (HP:0002573)2.88794141
25Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.88247002
26* Gait imbalance (HP:0002141)2.87191009
27Hepatoblastoma (HP:0002884)2.86163217
28* Congenital primary aphakia (HP:0007707)2.83872299
29Aplasia/Hypoplasia of the sternum (HP:0006714)2.80178107
30Hypercholesterolemia (HP:0003124)2.80070750
31Global brain atrophy (HP:0002283)2.77870360
32Hyperglycinemia (HP:0002154)2.76629618
33Aplasia/Hypoplasia of the macula (HP:0008059)2.76508910
34Drooling (HP:0002307)2.76372623
35Large for gestational age (HP:0001520)2.74451035
36Long clavicles (HP:0000890)2.69234488
37Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.68105115
38Upper motor neuron abnormality (HP:0002127)2.62499506
39Paraparesis (HP:0002385)2.61645265
40* Nephrogenic diabetes insipidus (HP:0009806)2.61084696
41Hypoplastic left heart (HP:0004383)2.55867133
42Supranuclear gaze palsy (HP:0000605)2.53472958
43Enlarged kidneys (HP:0000105)2.52759207
44* Medial flaring of the eyebrow (HP:0010747)2.52186662
45* Poor coordination (HP:0002370)2.50126599
46Rhinitis (HP:0012384)2.49230253
47Thyroid carcinoma (HP:0002890)2.48694844
48Selective tooth agenesis (HP:0001592)2.47132809
49Status epilepticus (HP:0002133)2.46832954
50Excessive salivation (HP:0003781)2.46192091
51Cortical dysplasia (HP:0002539)2.45781322
52Decreased lacrimation (HP:0000633)2.44812465
53* Vaginal atresia (HP:0000148)2.44387878
54Volvulus (HP:0002580)2.43819525
55* Genital tract atresia (HP:0001827)2.43216027
56Intestinal atresia (HP:0011100)2.42350829
57Hyperammonemia (HP:0001987)2.41953261
58Alacrima (HP:0000522)2.40182298
59Abnormality of sulfur amino acid metabolism (HP:0004339)2.39542030
60Ketoacidosis (HP:0001993)2.39016176
61Aplasia involving bones of the upper limbs (HP:0009823)2.37628391
62Aplasia of the phalanges of the hand (HP:0009802)2.37628391
63Aplasia involving bones of the extremities (HP:0009825)2.37628391
64Gonadotropin excess (HP:0000837)2.34723695
65Abnormality of glutamine family amino acid metabolism (HP:0010902)2.34217721
66Aplasia/Hypoplasia affecting the retina (HP:0008061)2.34101407
67Mitral stenosis (HP:0001718)2.32116037
68Abnormality of pyrimidine metabolism (HP:0004353)2.26318005
69Pseudobulbar signs (HP:0002200)2.26282635
70Hypoplastic labia majora (HP:0000059)2.24917051
71Abnormality of the labia majora (HP:0012881)2.23449719
72Dynein arm defect of respiratory motile cilia (HP:0012255)2.21033317
73Absent/shortened dynein arms (HP:0200106)2.21033317
74Abnormal respiratory motile cilium physiology (HP:0012261)2.19836943
75Medulloblastoma (HP:0002885)2.19110255
76Pheochromocytoma (HP:0002666)2.18899814
77Termporal pattern (HP:0011008)2.17997931
78Insidious onset (HP:0003587)2.17997931
79Spastic paraparesis (HP:0002313)2.17158109
80Blue irides (HP:0000635)2.16984848
81Abnormal gallbladder physiology (HP:0012438)2.15307162
82Cholecystitis (HP:0001082)2.15307162
83Exercise-induced muscle cramps (HP:0003710)2.13718828
84Broad alveolar ridges (HP:0000187)2.13517703
85Abnormality of the metopic suture (HP:0005556)2.13023522
86* Postaxial hand polydactyly (HP:0001162)2.10404557
87Long nose (HP:0003189)2.08476542
88Lower limb hyperreflexia (HP:0002395)2.06894197
89Abnormality of the lower motor neuron (HP:0002366)2.06525855
90Facial hemangioma (HP:0000329)2.06112993
91Complement deficiency (HP:0004431)2.06006053
92Abnormal respiratory epithelium morphology (HP:0012253)2.05202923
93Abnormal respiratory motile cilium morphology (HP:0005938)2.05202923
94Submucous cleft hard palate (HP:0000176)2.04601228
95Chorioretinal atrophy (HP:0000533)2.04284699
96Impaired vibration sensation in the lower limbs (HP:0002166)2.00582336
97Long toe (HP:0010511)1.96007534
98Hypoplasia of the thymus (HP:0000778)1.95428966
99Short 4th metacarpal (HP:0010044)1.95254224
100Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.95254224
101Myocardial infarction (HP:0001658)1.95247865
102Large earlobe (HP:0009748)1.94866271
103Joint hemorrhage (HP:0005261)1.94375141
104Labial hypoplasia (HP:0000066)1.93390440
105Absent speech (HP:0001344)1.92776179
106Tetraparesis (HP:0002273)1.92490376
107Striae distensae (HP:0001065)1.92344869
108Amyloidosis (HP:0011034)1.91768748
109Heterotopia (HP:0002282)1.91630226
110Postnatal microcephaly (HP:0005484)1.91208490
111* Micropenis (HP:0000054)1.90838076
112Bifid tongue (HP:0010297)1.90090735
113Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.90074862
114Degeneration of the lateral corticospinal tracts (HP:0002314)1.90074862
115Abnormal ciliary motility (HP:0012262)1.89952208
116Pulmonic stenosis (HP:0001642)1.89788639
117Scrotal hypoplasia (HP:0000046)1.89412802
118* Decreased testicular size (HP:0008734)1.89353177
119Hydroxyprolinuria (HP:0003080)1.89327055
120Abnormality of proline metabolism (HP:0010907)1.89327055
121Split foot (HP:0001839)1.88703273
122Truncal obesity (HP:0001956)1.88568586
123* Dental crowding (HP:0000678)1.87073046
124Neonatal hypoglycemia (HP:0001998)1.86803030
125Megalencephaly (HP:0001355)1.86622118
126Short nail (HP:0001799)1.85952816
127* Broad foot (HP:0001769)1.85940054
128Back pain (HP:0003418)1.85731575
129Hyperventilation (HP:0002883)1.85039477
130White forelock (HP:0002211)1.84577586
131Renal hypoplasia (HP:0000089)1.83793703
132* Aplasia/Hypoplasia of the lens (HP:0008063)1.83460942
133Deep philtrum (HP:0002002)1.83210737
134Median cleft lip (HP:0000161)1.82433140
135Hemivertebrae (HP:0002937)1.81990083
136Generalized hyperpigmentation (HP:0007440)1.81621970
137Pigmentary retinal degeneration (HP:0001146)1.81530904
138Hypoglycemic coma (HP:0001325)1.80599215
139Impulsivity (HP:0100710)1.79942852
140Chronic hepatic failure (HP:0100626)1.79797846
141Pathologic fracture (HP:0002756)1.78684138
142Hypoplastic female external genitalia (HP:0012815)1.77654449
143Scanning speech (HP:0002168)1.77154116
144Gingival bleeding (HP:0000225)1.75379412
145Abnormality of the intrinsic pathway (HP:0010989)1.75349526
146Curly hair (HP:0002212)1.74551050
147Nephronophthisis (HP:0000090)1.74310119
148Atrioventricular canal defect (HP:0006695)1.73680082
149Skin nodule (HP:0200036)1.73533824
150Abnormality of the dental pulp (HP:0006479)1.73093109
151* Specific learning disability (HP:0001328)1.72929911
152Sensorimotor neuropathy (HP:0007141)1.72872913
153Reticulocytosis (HP:0001923)1.71617925
154Hepatocellular carcinoma (HP:0001402)1.70826250
155Abnormality of the antihelix (HP:0009738)1.70356982
156Exotropia (HP:0000577)1.69805626
157Vertebral arch anomaly (HP:0008438)1.69642127
158Hypoplastic heart (HP:0001961)1.69450355
159Tubulointerstitial nephritis (HP:0001970)1.69254131
160Postaxial foot polydactyly (HP:0001830)1.68641258
161Abnormal lung lobation (HP:0002101)1.67256024
162* Short foot (HP:0001773)1.67018525
163Pancreatic islet-cell hyperplasia (HP:0004510)1.67006564
164Nephroblastoma (Wilms tumor) (HP:0002667)1.66877342
165Open mouth (HP:0000194)1.65898419
166EEG with generalized epileptiform discharges (HP:0011198)1.65126340
167Adrenal hypoplasia (HP:0000835)1.64858849
168Embryonal renal neoplasm (HP:0011794)1.64486948
169Neuroendocrine neoplasm (HP:0100634)1.63307523
170Cystic hygroma (HP:0000476)1.62944423
171Abnormality of the parathyroid morphology (HP:0011766)1.62683317
172Abnormality of the labia (HP:0000058)1.61894267
173Abnormality of the phalanges of the hallux (HP:0010057)1.60481250
174Abnormal hair whorl (HP:0010721)1.60406989
175Amyotrophic lateral sclerosis (HP:0007354)1.59808407
176Impaired vibratory sensation (HP:0002495)1.59505375
177Autoamputation (HP:0001218)1.59450613
178Progressive cerebellar ataxia (HP:0002073)1.57571152
179Urinary urgency (HP:0000012)1.57012388
180Oligodactyly (hands) (HP:0001180)1.56149011
181Hammertoe (HP:0001765)1.54579483
182Microglossia (HP:0000171)1.53044954
183Abnormality of the 4th metacarpal (HP:0010012)1.52400085
184Vertebral clefting (HP:0008428)1.52310813
185Thickened nuchal skin fold (HP:0000474)1.52070587
186Anal stenosis (HP:0002025)1.51974192
187Gastrointestinal atresia (HP:0002589)1.51918822
188Atrophy/Degeneration involving motor neurons (HP:0007373)1.51765811
189Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.51004112
190Neoplasm of the oral cavity (HP:0100649)1.50220717
191Aplasia/Hypoplasia of the tongue (HP:0010295)1.49158824
192Broad-based gait (HP:0002136)1.48938684
193Abnormality of the corticospinal tract (HP:0002492)1.48625037

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRKD33.96086290
2BCR3.37531691
3PDK33.31563585
4PDK43.31563585
5CASK3.12153260
6EPHA43.08713514
7FLT32.87824775
8BRSK22.84173584
9WEE12.67237255
10MAP4K22.62879168
11SRPK12.56234562
12EPHA32.53363168
13ERBB32.49118585
14CAMK1D2.46606857
15SIK12.45930534
16TRIM282.42163516
17KIT2.36764593
18MARK12.36739395
19TRIB32.36663254
20NEK92.22418087
21CDK122.20146963
22PBK2.10574485
23BCKDK2.00801181
24SCYL21.99851095
25KSR11.98920446
26TNIK1.95354622
27PINK11.86412131
28MAPK121.86199095
29LMTK21.83452650
30LATS11.78508249
31STK38L1.74046168
32CAMK1G1.71846166
33TAOK21.70049941
34NEK11.63522102
35SGK21.61022129
36PNCK1.59791581
37AKT31.59457990
38CSNK1A1L1.57594299
39TAF11.56858728
40MAP3K61.55633775
41TAOK31.52397999
42DYRK1B1.50129855
43MKNK11.49670182
44SIK21.46754553
45TYK21.46618694
46PHKG21.45108192
47PHKG11.45108192
48TSSK61.44037468
49MKNK21.37369870
50MELK1.30494917
51PDK21.28345197
52YES11.27603394
53SGK31.27238616
54WNK31.23739559
55CSNK1G11.23153789
56RIPK11.19681551
57CSNK1G21.17327901
58EIF2AK31.15511460
59STK31.15120483
60EIF2AK11.14992881
61CSNK1G31.14099007
62MAP3K41.10468736
63BRD41.10322096
64JAK31.09714426
65BRSK11.05279679
66MAPK131.04567053
67SIK31.02179103
68PDGFRA1.01263026
69ADRBK20.97920087
70TESK20.96688646
71PTK60.95522662
72EPHB20.94308046
73PTK2B0.93290175
74PRKAA20.92799928
75CDK60.89778744
76CDK90.86636333
77MAP3K70.85894314
78MAP2K40.85040519
79SGK2230.83643229
80SGK4940.83643229
81UHMK10.81706163
82MAPK110.80708650
83NEK60.79169203
84NTRK30.78592823
85CSF1R0.77586962
86GRK60.74335631
87MST40.73854428
88PLK20.71968627
89MET0.71922455
90STK390.71834843
91RET0.71661167
92INSRR0.70105683
93NUAK10.68912421
94BMPR1B0.67787203
95NTRK20.67540250
96CCNB10.66709437
97PLK10.63949184
98DYRK30.63282333
99ADRBK10.63246910
100MAP3K100.63016858
101ATR0.61975030
102LIMK10.61098553
103MAPK70.61098000
104PLK30.60919963
105TTN0.59841238
106MAPK100.59477446
107CDK40.57816576
108RIPK40.57781048
109NTRK10.57647198
110MAP3K20.57559963
111TTK0.57547489
112EIF2AK20.56120605
113AKT20.55918001
114MAP3K50.54805559
115PKN20.54276988
116PLK40.53217357
117RPS6KA40.53002525
118GRK50.52740023
119CHEK20.52311760
120DYRK20.52117039
121DAPK20.51639646
122PRKCG0.51605613
123FER0.51327357
124MINK10.50241056
125RAF10.50048994
126PRKCE0.49823639
127JAK10.49377777
128LATS20.48825079
129EGFR0.48625871
130PIM20.48173487
131KSR20.47883353
132NEK20.47360419
133CDC70.46970735
134ERBB20.46790845
135MAP3K130.46008833
136ERBB40.44968434
137MAP2K70.43903444
138FGFR20.43870284
139OBSCN0.43852324
140ATM0.43398641
141ERN10.42207049
142CDK140.42055749
143CDK50.41691500
144PAK30.40436993
145BRAF0.40414811
146PAK60.40400565
147PRKG10.40028012
148PRKCH0.39447562
149MARK30.38813740
150CSNK1A10.37706306
151ICK0.37316976
152CAMKK20.36820781
153DYRK1A0.36719261
154CAMK40.36682626
155PDK10.36099420
156CDK180.35500462
157RPS6KB10.35355805
158CSNK1D0.35325542
159HCK0.34579297
160FGFR10.34237798
161TYRO30.32275841
162CAMK2G0.31227451
163FGR0.30823739

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.43000719
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.67059911
3Fatty acid degradation_Homo sapiens_hsa000713.11030057
4Caffeine metabolism_Homo sapiens_hsa002322.88077965
5Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.48824947
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.48414395
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.42675420
8Selenocompound metabolism_Homo sapiens_hsa004502.42031790
9Fatty acid metabolism_Homo sapiens_hsa012122.39441124
10Propanoate metabolism_Homo sapiens_hsa006402.36614817
11PPAR signaling pathway_Homo sapiens_hsa033202.31715262
12Arginine biosynthesis_Homo sapiens_hsa002202.28208529
13Complement and coagulation cascades_Homo sapiens_hsa046102.24219544
14Fatty acid biosynthesis_Homo sapiens_hsa000612.23168889
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.21629456
16Protein export_Homo sapiens_hsa030602.11880488
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.11842859
18Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.10571165
19Basal transcription factors_Homo sapiens_hsa030222.06267740
20Pyruvate metabolism_Homo sapiens_hsa006201.92065002
21Bile secretion_Homo sapiens_hsa049761.88134987
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.78360296
23Sulfur relay system_Homo sapiens_hsa041221.75391669
24Tryptophan metabolism_Homo sapiens_hsa003801.73516923
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.69560878
26Drug metabolism - other enzymes_Homo sapiens_hsa009831.69397567
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.65188280
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.64479077
29Peroxisome_Homo sapiens_hsa041461.64414472
30Biosynthesis of amino acids_Homo sapiens_hsa012301.59584604
31Hippo signaling pathway_Homo sapiens_hsa043901.55153910
32Nicotine addiction_Homo sapiens_hsa050331.48998044
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.47872195
34Axon guidance_Homo sapiens_hsa043601.47132097
35Cell cycle_Homo sapiens_hsa041101.46626711
36Hedgehog signaling pathway_Homo sapiens_hsa043401.43867931
37Pentose and glucuronate interconversions_Homo sapiens_hsa000401.40117595
38Carbon metabolism_Homo sapiens_hsa012001.38870833
39Glucagon signaling pathway_Homo sapiens_hsa049221.38223199
40ABC transporters_Homo sapiens_hsa020101.37688033
41mRNA surveillance pathway_Homo sapiens_hsa030151.35069212
42Basal cell carcinoma_Homo sapiens_hsa052171.32680053
43One carbon pool by folate_Homo sapiens_hsa006701.31739582
44Adherens junction_Homo sapiens_hsa045201.31425801
45Lysine degradation_Homo sapiens_hsa003101.27434260
46Starch and sucrose metabolism_Homo sapiens_hsa005001.21274457
47RNA transport_Homo sapiens_hsa030131.20750831
48TGF-beta signaling pathway_Homo sapiens_hsa043501.20519982
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18645514
50Vitamin B6 metabolism_Homo sapiens_hsa007501.16487071
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.15109829
52Glycerolipid metabolism_Homo sapiens_hsa005611.14382375
53Cocaine addiction_Homo sapiens_hsa050301.12548949
54Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.09537064
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.06713433
56p53 signaling pathway_Homo sapiens_hsa041151.06551485
57Butanoate metabolism_Homo sapiens_hsa006501.05555845
58Dorso-ventral axis formation_Homo sapiens_hsa043201.03920660
59Pentose phosphate pathway_Homo sapiens_hsa000301.01682584
60Dopaminergic synapse_Homo sapiens_hsa047281.01351100
61Glutamatergic synapse_Homo sapiens_hsa047241.00699512
62Chemical carcinogenesis_Homo sapiens_hsa052041.00670154
63Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.99630528
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.98562335
65Retinol metabolism_Homo sapiens_hsa008300.96691316
66Wnt signaling pathway_Homo sapiens_hsa043100.96424734
67Fructose and mannose metabolism_Homo sapiens_hsa000510.93283212
68Nucleotide excision repair_Homo sapiens_hsa034200.90190009
69Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90102693
70Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89830077
71Steroid biosynthesis_Homo sapiens_hsa001000.89115381
72Vitamin digestion and absorption_Homo sapiens_hsa049770.89056030
73Non-homologous end-joining_Homo sapiens_hsa034500.87502456
74Insulin resistance_Homo sapiens_hsa049310.84461249
75beta-Alanine metabolism_Homo sapiens_hsa004100.83088134
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.82082822
77ErbB signaling pathway_Homo sapiens_hsa040120.81334942
78Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81244885
79Central carbon metabolism in cancer_Homo sapiens_hsa052300.81235709
80Endometrial cancer_Homo sapiens_hsa052130.81104154
81Melanogenesis_Homo sapiens_hsa049160.79303226
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.77385236
83Thyroid cancer_Homo sapiens_hsa052160.76630898
84Long-term depression_Homo sapiens_hsa047300.75446407
85Staphylococcus aureus infection_Homo sapiens_hsa051500.75398017
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.74496949
87Fat digestion and absorption_Homo sapiens_hsa049750.74093155
88Spliceosome_Homo sapiens_hsa030400.73583812
89Steroid hormone biosynthesis_Homo sapiens_hsa001400.72889536
90RNA degradation_Homo sapiens_hsa030180.72733123
91Regulation of autophagy_Homo sapiens_hsa041400.71715911
92Colorectal cancer_Homo sapiens_hsa052100.71419473
93Tight junction_Homo sapiens_hsa045300.69994047
94Fatty acid elongation_Homo sapiens_hsa000620.69593378
95Circadian rhythm_Homo sapiens_hsa047100.69511858
96Alcoholism_Homo sapiens_hsa050340.68337808
97MicroRNAs in cancer_Homo sapiens_hsa052060.67949608
98Gap junction_Homo sapiens_hsa045400.67020500
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.66751516
100Histidine metabolism_Homo sapiens_hsa003400.65301719
101Phototransduction_Homo sapiens_hsa047440.64225694
102Melanoma_Homo sapiens_hsa052180.64089426
103Prostate cancer_Homo sapiens_hsa052150.63890564
104Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.62225317
105Amphetamine addiction_Homo sapiens_hsa050310.62121111
106Adipocytokine signaling pathway_Homo sapiens_hsa049200.61141632
107Insulin signaling pathway_Homo sapiens_hsa049100.58193728
108Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.57755770
109Circadian entrainment_Homo sapiens_hsa047130.57199282
110Taste transduction_Homo sapiens_hsa047420.56243002
111Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.55505202
112Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54251665
113Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.53652223
114Glioma_Homo sapiens_hsa052140.52155633
115Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.50146188
116Galactose metabolism_Homo sapiens_hsa000520.49196243
117Renal cell carcinoma_Homo sapiens_hsa052110.49193562
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.49011445
119Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48317554
120Tyrosine metabolism_Homo sapiens_hsa003500.48208181
121Notch signaling pathway_Homo sapiens_hsa043300.48123381
122Rap1 signaling pathway_Homo sapiens_hsa040150.45253347
123Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44341529
124Proteoglycans in cancer_Homo sapiens_hsa052050.44315602
125PI3K-Akt signaling pathway_Homo sapiens_hsa041510.44128129
126Folate biosynthesis_Homo sapiens_hsa007900.43589143
127Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43192934
128Maturity onset diabetes of the young_Homo sapiens_hsa049500.42373791
129Fanconi anemia pathway_Homo sapiens_hsa034600.38907732
130mTOR signaling pathway_Homo sapiens_hsa041500.36258542
131Phenylalanine metabolism_Homo sapiens_hsa003600.35753371
132Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33772496
133Metabolic pathways_Homo sapiens_hsa011000.30409940
134AMPK signaling pathway_Homo sapiens_hsa041520.26860030
135Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25749495
136Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.25067271
137alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.24734894
138Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.23913398
139Chronic myeloid leukemia_Homo sapiens_hsa052200.23066538
140Insulin secretion_Homo sapiens_hsa049110.22805000
141Sulfur metabolism_Homo sapiens_hsa009200.20894156
142Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.20686488
143Arginine and proline metabolism_Homo sapiens_hsa003300.19930414
144Thyroid hormone synthesis_Homo sapiens_hsa049180.19432324
145Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.18589338
146GABAergic synapse_Homo sapiens_hsa047270.16968973
147Type II diabetes mellitus_Homo sapiens_hsa049300.16912331
148Cyanoamino acid metabolism_Homo sapiens_hsa004600.15823626
149Morphine addiction_Homo sapiens_hsa050320.14819933
150Calcium signaling pathway_Homo sapiens_hsa040200.12694941
151cGMP-PKG signaling pathway_Homo sapiens_hsa040220.12485661
152Oocyte meiosis_Homo sapiens_hsa041140.08136661
153Renin secretion_Homo sapiens_hsa049240.06099806
154Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.05635242
155Salivary secretion_Homo sapiens_hsa049700.03706598
156Glutathione metabolism_Homo sapiens_hsa004800.01489079

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