TBC1D8B

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 encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1serotonin metabolic process (GO:0042428)5.09091394
2behavioral response to nicotine (GO:0035095)5.03149202
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.84997372
4L-phenylalanine catabolic process (GO:0006559)4.84997372
5primary amino compound metabolic process (GO:1901160)4.80897713
6negative regulation of sodium ion transport (GO:0010766)4.68509774
7peptidyl-glutamic acid carboxylation (GO:0017187)4.54632827
8protein carboxylation (GO:0018214)4.54632827
9negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.52122972
10negative regulation of translation, ncRNA-mediated (GO:0040033)4.52122972
11regulation of translation, ncRNA-mediated (GO:0045974)4.52122972
12L-phenylalanine metabolic process (GO:0006558)4.51985707
13erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.51985707
14aromatic amino acid family catabolic process (GO:0009074)4.48813198
15negative regulation of fibrinolysis (GO:0051918)4.30099271
16alpha-linolenic acid metabolic process (GO:0036109)4.29047557
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.23944216
18endosome to melanosome transport (GO:0035646)4.23866343
19endosome to pigment granule transport (GO:0043485)4.23866343
20gamma-aminobutyric acid transport (GO:0015812)4.19917442
21tryptophan catabolic process (GO:0006569)4.18695470
22indole-containing compound catabolic process (GO:0042436)4.18695470
23indolalkylamine catabolic process (GO:0046218)4.18695470
24neuronal action potential (GO:0019228)4.17845448
25kynurenine metabolic process (GO:0070189)4.13437039
26Golgi transport vesicle coating (GO:0048200)4.13398263
27COPI coating of Golgi vesicle (GO:0048205)4.13398263
28tryptophan metabolic process (GO:0006568)4.12228997
29regulation of fibrinolysis (GO:0051917)4.02484118
30homocysteine metabolic process (GO:0050667)4.01352506
31urea metabolic process (GO:0019627)4.00264892
32urea cycle (GO:0000050)4.00264892
33complement activation, alternative pathway (GO:0006957)3.97602785
34intestinal cholesterol absorption (GO:0030299)3.94892879
35regulation of protein activation cascade (GO:2000257)3.91851754
36high-density lipoprotein particle remodeling (GO:0034375)3.91274413
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.85276446
38sulfur amino acid catabolic process (GO:0000098)3.84737896
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.82528968
40regulation of gene silencing by RNA (GO:0060966)3.77642495
41regulation of posttranscriptional gene silencing (GO:0060147)3.77642495
42regulation of gene silencing by miRNA (GO:0060964)3.77642495
43bile acid biosynthetic process (GO:0006699)3.77327158
44indole-containing compound metabolic process (GO:0042430)3.74289636
45interkinetic nuclear migration (GO:0022027)3.71953175
46regulation of complement activation (GO:0030449)3.70918168
47snRNA transcription (GO:0009301)3.70392292
48lysine catabolic process (GO:0006554)3.70098178
49lysine metabolic process (GO:0006553)3.70098178
50regulation of establishment of cell polarity (GO:2000114)3.69629373
51negative regulation of systemic arterial blood pressure (GO:0003085)3.64905011
52cysteine metabolic process (GO:0006534)3.63915667
53glyoxylate metabolic process (GO:0046487)3.59116441
54reverse cholesterol transport (GO:0043691)3.59060387
55response to pheromone (GO:0019236)3.58120777
56cilium or flagellum-dependent cell motility (GO:0001539)3.57860001
57nitrogen cycle metabolic process (GO:0071941)3.56796171
58regulation of pigment cell differentiation (GO:0050932)3.55399372
59valine metabolic process (GO:0006573)3.52766740
60positive regulation of fatty acid beta-oxidation (GO:0032000)3.50664394
61phospholipid efflux (GO:0033700)3.43365416
62regulation of triglyceride catabolic process (GO:0010896)3.42842513
63reflex (GO:0060004)3.40538199
64bile acid metabolic process (GO:0008206)3.40126087
65acylglycerol homeostasis (GO:0055090)3.39774269
66triglyceride homeostasis (GO:0070328)3.39774269
67regulation of hippo signaling (GO:0035330)3.37346291
68cellular glucuronidation (GO:0052695)3.37178697
69regulation of cholesterol homeostasis (GO:2000188)3.34794740
70intestinal absorption (GO:0050892)3.33991609
71sulfation (GO:0051923)3.33648408
72cardiovascular system development (GO:0072358)3.29812180
73bile acid and bile salt transport (GO:0015721)3.28912502
74cytoplasmic mRNA processing body assembly (GO:0033962)3.27995885
75negative regulation of sterol transport (GO:0032372)3.25259795
76negative regulation of cholesterol transport (GO:0032375)3.25259795
77plasma lipoprotein particle remodeling (GO:0034369)3.24351869
78protein-lipid complex remodeling (GO:0034368)3.24351869
79macromolecular complex remodeling (GO:0034367)3.24351869
80positive regulation of CREB transcription factor activity (GO:0032793)3.24173772
81histone-serine phosphorylation (GO:0035404)3.22935700
82COPII vesicle coating (GO:0048208)3.22617157
83epoxygenase P450 pathway (GO:0019373)3.22089360
84regulation of establishment or maintenance of cell polarity (GO:0032878)3.21647416
85cellular modified amino acid catabolic process (GO:0042219)3.21633770
86lipoprotein metabolic process (GO:0042157)3.21085504
87fucose catabolic process (GO:0019317)3.20840274
88L-fucose metabolic process (GO:0042354)3.20840274
89L-fucose catabolic process (GO:0042355)3.20840274
90tyrosine metabolic process (GO:0006570)3.18531292
91hormone catabolic process (GO:0042447)3.17786995
92negative regulation of protein localization to cell surface (GO:2000009)3.17521176
93regulation of fatty acid beta-oxidation (GO:0031998)3.16104045
94aromatic amino acid family metabolic process (GO:0009072)3.15672449
95positive regulation of developmental pigmentation (GO:0048087)3.14398147
96amino-acid betaine metabolic process (GO:0006577)3.13803291
97coenzyme catabolic process (GO:0009109)3.12712227
98indolalkylamine metabolic process (GO:0006586)3.11735566
99phospholipid homeostasis (GO:0055091)3.11001034
100cholesterol efflux (GO:0033344)3.10704218
101histone H4-K12 acetylation (GO:0043983)3.09058420
102positive regulation of lipid catabolic process (GO:0050996)3.09048752
103pericardium development (GO:0060039)3.08951206
104multicellular organismal movement (GO:0050879)3.08215576
105musculoskeletal movement (GO:0050881)3.08215576
106detection of light stimulus involved in visual perception (GO:0050908)3.07808670
107detection of light stimulus involved in sensory perception (GO:0050962)3.07808670
108protein K48-linked deubiquitination (GO:0071108)3.06498727
109plasma lipoprotein particle clearance (GO:0034381)3.05841715
110drug transmembrane transport (GO:0006855)3.04965503
111plasma lipoprotein particle assembly (GO:0034377)3.04930007
112fibrinolysis (GO:0042730)3.03701646
113serine family amino acid catabolic process (GO:0009071)3.03645733
1144-hydroxyproline metabolic process (GO:0019471)2.99949267
115regulation of plasminogen activation (GO:0010755)2.98723954
116protein-lipid complex assembly (GO:0065005)2.96090600
117maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.94897277
118cellular ketone body metabolic process (GO:0046950)2.92365060
119monoubiquitinated protein deubiquitination (GO:0035520)2.92053174
120uronic acid metabolic process (GO:0006063)2.91236294
121glucuronate metabolic process (GO:0019585)2.91236294
122alpha-amino acid catabolic process (GO:1901606)2.91210576
123regulation of cholesterol esterification (GO:0010872)2.90184528
124behavioral response to ethanol (GO:0048149)2.90017395
125peristalsis (GO:0030432)2.88703916
126positive regulation of fatty acid oxidation (GO:0046321)2.86955173
127sterol homeostasis (GO:0055092)2.86177412
128urinary tract smooth muscle contraction (GO:0014848)2.85354258
1292-oxoglutarate metabolic process (GO:0006103)2.85296338
130cholesterol homeostasis (GO:0042632)2.84942956
131flavonoid metabolic process (GO:0009812)2.84163140
132positive regulation of action potential (GO:0045760)2.83878346
133artery development (GO:0060840)2.83192605
134kidney morphogenesis (GO:0060993)2.82776044
135benzene-containing compound metabolic process (GO:0042537)2.80717024
136positive regulation of glycolytic process (GO:0045821)2.80022473
137ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.79106920
138membrane depolarization during action potential (GO:0086010)2.77923047
139neural tube formation (GO:0001841)2.74958387
140cellular amino acid catabolic process (GO:0009063)2.74121309
141regulation of bile acid biosynthetic process (GO:0070857)2.74114656
142striated muscle atrophy (GO:0014891)2.73554983
143positive regulation of lipoprotein lipase activity (GO:0051006)2.71641346
144positive regulation of triglyceride lipase activity (GO:0061365)2.71641346
145regulation of mesoderm development (GO:2000380)2.70877282
146dicarboxylic acid biosynthetic process (GO:0043650)2.70830519
147positive regulation of mRNA catabolic process (GO:0061014)2.70652742
148detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.70621991
149spinal cord motor neuron differentiation (GO:0021522)2.70618642
150drug catabolic process (GO:0042737)2.70204119
151transcytosis (GO:0045056)2.69941211
152amine catabolic process (GO:0009310)2.69734430
153cellular biogenic amine catabolic process (GO:0042402)2.69734430
154positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.69495399
155negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.68968736
156activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.68710354
157regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.68636587
158neuron maturation (GO:0042551)2.68503094
159acute-phase response (GO:0006953)2.68210228
160glutamate metabolic process (GO:0006536)2.67957184
161very-low-density lipoprotein particle assembly (GO:0034379)2.67256477
162endoderm formation (GO:0001706)2.67094759
163plasma lipoprotein particle organization (GO:0071827)2.65584119
164action potential (GO:0001508)2.65239739
165fatty acid oxidation (GO:0019395)2.64462761
166opioid receptor signaling pathway (GO:0038003)2.64247983
167cytolysis (GO:0019835)2.63638963
168cellular response to ATP (GO:0071318)2.63200196
169neuronal action potential propagation (GO:0019227)2.62841312
170phosphatidylinositol acyl-chain remodeling (GO:0036149)2.62659106
171protein import into peroxisome matrix (GO:0016558)2.60800617
172endocardial cushion development (GO:0003197)2.60565707
173hindbrain development (GO:0030902)2.58415633
174negative regulation of synaptic transmission, GABAergic (GO:0032229)2.56631442
175negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.55930193
176ketone body metabolic process (GO:1902224)2.55891797
177NLS-bearing protein import into nucleus (GO:0006607)2.55556783
178regulation of action potential (GO:0098900)2.54695746
179positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.52135474
180protein localization to synapse (GO:0035418)2.51697170
181oxidative demethylation (GO:0070989)2.50701018
182protein targeting to vacuole (GO:0006623)2.50427891
183protein targeting to lysosome (GO:0006622)2.50427891
184establishment of protein localization to vacuole (GO:0072666)2.50427891
185cell morphogenesis involved in neuron differentiation (GO:0048667)2.50104381
186atrial cardiac muscle cell action potential (GO:0086014)2.49079389
187thyroid hormone metabolic process (GO:0042403)2.47360076
188startle response (GO:0001964)2.46417013
189NAD biosynthetic process (GO:0009435)2.44419156
190epithelial cilium movement (GO:0003351)2.44075121
191ovulation cycle (GO:0042698)2.43619658
192regulation of short-term neuronal synaptic plasticity (GO:0048172)2.43539015
193skeletal muscle adaptation (GO:0043501)2.41499370
194cilium organization (GO:0044782)2.40980059

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.11628867
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.35910150
3PPARA_22158963_ChIP-Seq_LIVER_Mouse4.62694385
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.57795358
5EZH2_22144423_ChIP-Seq_EOC_Human4.12868836
6EGR1_23403033_ChIP-Seq_LIVER_Mouse4.00901631
7ZNF274_21170338_ChIP-Seq_K562_Hela3.28810706
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.25362359
9GBX2_23144817_ChIP-Seq_PC3_Human3.21061438
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.18568036
11FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.02921561
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.96581638
13VDR_22108803_ChIP-Seq_LS180_Human2.86466371
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.80579504
15GATA1_22025678_ChIP-Seq_K562_Human2.63255615
16CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.52524319
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.50679032
18CLOCK_20551151_ChIP-Seq_293T_Human2.41561175
19TRIM28_21343339_ChIP-Seq_HEK293_Human2.39141922
20TP63_17297297_ChIP-ChIP_HaCaT_Human2.34035141
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.23123270
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18374912
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.15538417
24POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15367318
25FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.15168318
26TAF15_26573619_Chip-Seq_HEK293_Human2.12901440
27STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.09355103
28IRF8_22096565_ChIP-ChIP_GC-B_Human2.08304610
29FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.01863003
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.00521099
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92774272
32SALL1_21062744_ChIP-ChIP_HESCs_Human1.90437531
33TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87875267
34EWS_26573619_Chip-Seq_HEK293_Human1.87020849
35CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.85011852
36STAT3_23295773_ChIP-Seq_U87_Human1.82764448
37AR_21572438_ChIP-Seq_LNCaP_Human1.81211761
38RARG_19884340_ChIP-ChIP_MEFs_Mouse1.80706174
39P300_19829295_ChIP-Seq_ESCs_Human1.77600023
40ER_23166858_ChIP-Seq_MCF-7_Human1.77286441
41FOXA2_19822575_ChIP-Seq_HepG2_Human1.76383200
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72637197
43CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.70551936
44ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.69965507
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.67157994
46SOX2_27498859_Chip-Seq_STOMACH_Mouse1.64745719
47TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64068184
48DROSHA_22980978_ChIP-Seq_HELA_Human1.63900450
49SMAD4_21799915_ChIP-Seq_A2780_Human1.60121760
50TCF4_23295773_ChIP-Seq_U87_Human1.59608091
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.59606046
52POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.59537517
53TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59537517
54ESR1_21235772_ChIP-Seq_MCF-7_Human1.59209220
55IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.59099346
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.57747324
57AR_25329375_ChIP-Seq_VCAP_Human1.57553183
58FUS_26573619_Chip-Seq_HEK293_Human1.57285011
59REST_21632747_ChIP-Seq_MESCs_Mouse1.55558399
60IGF1R_20145208_ChIP-Seq_DFB_Human1.54857884
61NR3C1_21868756_ChIP-Seq_MCF10A_Human1.54627911
62TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.54573088
63TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.54242795
64FOXO3_23340844_ChIP-Seq_DLD1_Human1.53941850
65STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.52330344
66NRF2_20460467_ChIP-Seq_MEFs_Mouse1.51090681
67NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.51090681
68ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49497533
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.47591568
70Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.47330442
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.47198326
72HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.46992858
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.46789529
74NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.46723765
75MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.46087363
76* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46067970
77TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44312293
78PPAR_26484153_Chip-Seq_NCI-H1993_Human1.41267974
79BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40016299
80TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38434216
81RNF2_27304074_Chip-Seq_NSC_Mouse1.37995197
82* SMAD3_21741376_ChIP-Seq_EPCs_Human1.37298672
83CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.36735084
84EZH2_27304074_Chip-Seq_ESCs_Mouse1.35129129
85GATA2_21666600_ChIP-Seq_HMVEC_Human1.34886319
86SALL4_18804426_ChIP-ChIP_XEN_Mouse1.34851399
87CJUN_26792858_Chip-Seq_BT549_Human1.34408370
88GATA4_25053715_ChIP-Seq_YYC3_Human1.34212327
89* RUNX2_22187159_ChIP-Seq_PCA_Human1.33485372
90RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.32517120
91EED_16625203_ChIP-ChIP_MESCs_Mouse1.32275783
92SOX2_20726797_ChIP-Seq_SW620_Human1.31037055
93ARNT_22903824_ChIP-Seq_MCF-7_Human1.30674155
94JARID2_20064375_ChIP-Seq_MESCs_Mouse1.30668843
95ESR2_21235772_ChIP-Seq_MCF-7_Human1.30231797
96AHR_22903824_ChIP-Seq_MCF-7_Human1.30186428
97EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.29617267
98ESR1_20079471_ChIP-ChIP_T-47D_Human1.28987923
99PRDM14_20953172_ChIP-Seq_ESCs_Human1.28074183
100FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.26801434
101BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.26524579
102PCGF2_27294783_Chip-Seq_ESCs_Mouse1.25501745
103TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.22976615
104OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22253558
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22033719
106PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.21816312
107SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.20749785
108RNF2_27304074_Chip-Seq_ESCs_Mouse1.20416377
109EGR1_19374776_ChIP-ChIP_THP-1_Human1.20268332
110HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.20023197
111FLI1_21867929_ChIP-Seq_TH2_Mouse1.19429902
112SOX2_21211035_ChIP-Seq_LN229_Gbm1.19356189
113KDM2B_26808549_Chip-Seq_REH_Human1.19046552
114SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.18928349
115AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.18365299
116FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.16731353
117SMAD_19615063_ChIP-ChIP_OVARY_Human1.15742296
118TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15389613
119* SMAD4_21741376_ChIP-Seq_EPCs_Human1.15377489
120IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.15223671
121CBP_20019798_ChIP-Seq_JUKART_Human1.15223671
122PCGF2_27294783_Chip-Seq_NPCs_Mouse1.15143698
123HNF4A_19822575_ChIP-Seq_HepG2_Human1.14997810
124JARID2_20075857_ChIP-Seq_MESCs_Mouse1.13137375
125SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.12475964
126CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11321452
127RXR_22108803_ChIP-Seq_LS180_Human1.11187868
128MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11100034
129TCF4_22108803_ChIP-Seq_LS180_Human1.10910281
130KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10437786
131SOX9_24532713_ChIP-Seq_HFSC_Mouse1.09729516
132ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.09389981
133BRD4_25478319_ChIP-Seq_HGPS_Human1.08717026
134CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07953476
135EZH2_27294783_Chip-Seq_ESCs_Mouse1.07473053
136NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.07319485
137FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.07003425
138SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.04114240
139GATA6_25053715_ChIP-Seq_YYC3_Human1.03824187
140ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03741930
141SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.03497118
142SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.03497118
143CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.03422292
144CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.02736428
145TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02408799
146TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02362717
147TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01986943
148ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.01792351
149EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.01782183
150SMAD3_21741376_ChIP-Seq_ESCs_Human1.01731588
151STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.01636361
152IRF1_19129219_ChIP-ChIP_H3396_Human1.00888015
153AR_19668381_ChIP-Seq_PC3_Human0.99304721
154RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98974863
155PIAS1_25552417_ChIP-Seq_VCAP_Human0.97848888
156SUZ12_27294783_Chip-Seq_NPCs_Mouse0.97807609
157JUN_21703547_ChIP-Seq_K562_Human0.97799481
158CDX2_20551321_ChIP-Seq_CACO-2_Human0.97695020
159LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97541663
160SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.97361183
161EZH2_27294783_Chip-Seq_NPCs_Mouse0.96940844
162EZH2_18974828_ChIP-Seq_MESCs_Mouse0.96569995
163FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.93903536
164WT1_19549856_ChIP-ChIP_CCG9911_Human0.93163189
165SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.92213907
166STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.92101522
167FOXA1_25552417_ChIP-Seq_VCAP_Human0.91875099
168SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.91797710
169TBX20_22328084_ChIP-Seq_HEART_Mouse0.90993319
170TBX20_22080862_ChIP-Seq_HEART_Mouse0.90993319
171FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.90742136
172TP63_23658742_ChIP-Seq_EP156T_Human0.88554824
173AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87821968
174GATA3_24758297_ChIP-Seq_MCF-7_Human0.87542513
175TP53_16413492_ChIP-PET_HCT116_Human0.87196689
176EP300_21415370_ChIP-Seq_HL-1_Mouse0.87076768
177TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.86992904
178FOXM1_26456572_ChIP-Seq_MCF-7_Human0.86882755
179IRF8_27001747_Chip-Seq_BMDM_Mouse0.84319701
180BCAT_22108803_ChIP-Seq_LS180_Human0.83896664
181GATA2_19941826_ChIP-Seq_K562_Human0.83435398
182CDX2_22108803_ChIP-Seq_LS180_Human0.82760149
183KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.82429367
184PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.81824592
185BRD4_27068464_Chip-Seq_AML-cells_Mouse0.80823959
186JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80671752
187HIF1A_21447827_ChIP-Seq_MCF-7_Human0.80325963
188RUNX_20019798_ChIP-Seq_JUKART_Human0.79272307
189NFIB_24661679_ChIP-Seq_LUNG_Mouse0.78818723

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.54787900
2MP0005360_urolithiasis5.18072439
3MP0005085_abnormal_gallbladder_physiolo4.29476456
4MP0005365_abnormal_bile_salt4.12295933
5MP0003252_abnormal_bile_duct3.81934485
6MP0009046_muscle_twitch3.60057141
7MP0008438_abnormal_cutaneous_collagen3.16404691
8MP0003890_abnormal_embryonic-extraembry2.93504836
9MP0008875_abnormal_xenobiotic_pharmacok2.91441638
10MP0003646_muscle_fatigue2.85460085
11MP0003705_abnormal_hypodermis_morpholog2.82389172
12MP0001666_abnormal_nutrient_absorption2.69089321
13MP0010329_abnormal_lipoprotein_level2.50933906
14MP0001968_abnormal_touch/_nociception2.46504597
15MP0002735_abnormal_chemical_nociception2.45182090
16MP0003195_calcinosis2.39436415
17MP0008877_abnormal_DNA_methylation2.37812611
18MP0009745_abnormal_behavioral_response2.37548781
19MP0003787_abnormal_imprinting2.31967704
20MP0003300_gastrointestinal_ulcer2.26899120
21MP0002877_abnormal_melanocyte_morpholog2.19065392
22MP0005551_abnormal_eye_electrophysiolog2.17314391
23MP0004133_heterotaxia2.05272147
24MP0005083_abnormal_biliary_tract2.04329067
25MP0005645_abnormal_hypothalamus_physiol2.04084634
26MP0005275_abnormal_skin_tensile2.03513062
27MP0003868_abnormal_feces_composition2.03427029
28MP0001986_abnormal_taste_sensitivity2.01140515
29MP0002138_abnormal_hepatobiliary_system2.00099663
30MP0008872_abnormal_physiological_respon1.92833206
31MP0005503_abnormal_tendon_morphology1.88934266
32MP0003806_abnormal_nucleotide_metabolis1.86899818
33MP0001486_abnormal_startle_reflex1.84085231
34MP0008057_abnormal_DNA_replication1.81683857
35MP0002272_abnormal_nervous_system1.81213830
36MP0002067_abnormal_sensory_capabilities1.80593442
37MP0002064_seizures1.80107147
38MP0009384_cardiac_valve_regurgitation1.78148350
39MP0004142_abnormal_muscle_tone1.77060199
40MP0003136_yellow_coat_color1.76851846
41MP0004147_increased_porphyrin_level1.73017602
42MP0005220_abnormal_exocrine_pancreas1.72772862
43MP0006054_spinal_hemorrhage1.71148584
44MP0005386_behavior/neurological_phenoty1.68341393
45MP0004924_abnormal_behavior1.68341393
46MP0010234_abnormal_vibrissa_follicle1.65257982
47MP0005332_abnormal_amino_acid1.64139262
48MP0003119_abnormal_digestive_system1.63523381
49MP0000609_abnormal_liver_physiology1.63509670
50MP0009840_abnormal_foam_cell1.62958703
51MP0002736_abnormal_nociception_after1.61894697
52MP0000383_abnormal_hair_follicle1.61154779
53MP0002102_abnormal_ear_morphology1.60914124
54MP0002733_abnormal_thermal_nociception1.56359174
55MP0002734_abnormal_mechanical_nocicepti1.56269430
56MP0001501_abnormal_sleep_pattern1.55840684
57MP0002572_abnormal_emotion/affect_behav1.53770497
58MP0003635_abnormal_synaptic_transmissio1.53592252
59MP0005646_abnormal_pituitary_gland1.50041518
60MP0008961_abnormal_basal_metabolism1.49701259
61MP0004885_abnormal_endolymph1.48041286
62MP0002063_abnormal_learning/memory/cond1.46648244
63MP0001970_abnormal_pain_threshold1.44439363
64MP0002118_abnormal_lipid_homeostasis1.44275520
65MP0004742_abnormal_vestibular_system1.41987736
66MP0004145_abnormal_muscle_electrophysio1.39464233
67MP0003191_abnormal_cellular_cholesterol1.38492611
68MP0002166_altered_tumor_susceptibility1.37803606
69MP0000631_abnormal_neuroendocrine_gland1.36927264
70MP0002060_abnormal_skin_morphology1.35548792
71MP0009780_abnormal_chondrocyte_physiolo1.35206160
72MP0002557_abnormal_social/conspecific_i1.33572625
73MP0002254_reproductive_system_inflammat1.32844019
74MP0003183_abnormal_peptide_metabolism1.32795079
75MP0010352_gastrointestinal_tract_polyps1.32710815
76MP0001485_abnormal_pinna_reflex1.30002184
77MP0000778_abnormal_nervous_system1.29562132
78MP0005174_abnormal_tail_pigmentation1.28957538
79MP0009643_abnormal_urine_homeostasis1.28680884
80MP0010368_abnormal_lymphatic_system1.27672085
81MP0002896_abnormal_bone_mineralization1.26400945
82MP0001440_abnormal_grooming_behavior1.23265021
83MP0004019_abnormal_vitamin_homeostasis1.22531551
84MP0003880_abnormal_central_pattern1.22086366
85MP0002928_abnormal_bile_duct1.20462895
86MP0005448_abnormal_energy_balance1.19667954
87MP0005319_abnormal_enzyme/_coenzyme1.17380449
88MP0003045_fibrosis1.15307814
89MP0010386_abnormal_urinary_bladder1.13621805
90MP0006292_abnormal_olfactory_placode1.12609050
91MP0003279_aneurysm1.11239515
92MP0003566_abnormal_cell_adhesion1.09962553
93MP0002638_abnormal_pupillary_reflex1.08638530
94MP0005408_hypopigmentation1.06902561
95MP0002160_abnormal_reproductive_system1.06650780
96MP0002168_other_aberrant_phenotype1.06440180
97MP0001944_abnormal_pancreas_morphology1.05514993
98MP0000230_abnormal_systemic_arterial1.04138058
99MP0005023_abnormal_wound_healing1.02861368
100MP0002837_dystrophic_cardiac_calcinosis1.00561235
101MP0004264_abnormal_extraembryonic_tissu1.00374332
102MP0005389_reproductive_system_phenotype0.98421735
103MP0000598_abnormal_liver_morphology0.98082132
104MP0002009_preneoplasia0.97728580
105MP0000566_synostosis0.96955977
106MP0003315_abnormal_perineum_morphology0.95926874
107MP0009053_abnormal_anal_canal0.95423828
108MP0001324_abnormal_eye_pigmentation0.95032048
109MP0003937_abnormal_limbs/digits/tail_de0.94599679
110MP0004272_abnormal_basement_membrane0.93799667
111MP0003959_abnormal_lean_body0.92521561
112MP0006276_abnormal_autonomic_nervous0.92161741
113MP0005253_abnormal_eye_physiology0.91719319
114MP0004947_skin_inflammation0.91664239
115MP0000955_abnormal_spinal_cord0.91586820
116MP0000647_abnormal_sebaceous_gland0.91066005
117MP0002184_abnormal_innervation0.90634472
118MP0002938_white_spotting0.89322284
119MP0001664_abnormal_digestion0.89020228
120MP0002882_abnormal_neuron_morphology0.89015425
121MP0000013_abnormal_adipose_tissue0.88579012
122MP0000470_abnormal_stomach_morphology0.88182782
123MP0005195_abnormal_posterior_eye0.86690263
124MP0005647_abnormal_sex_gland0.86031647
125MP0001958_emphysema0.85941871
126MP0002078_abnormal_glucose_homeostasis0.85299755
127MP0001243_abnormal_dermal_layer0.84445710
128MP0002006_tumorigenesis0.84420688
129MP0005257_abnormal_intraocular_pressure0.84392470
130MP0003632_abnormal_nervous_system0.83411226
131MP0003137_abnormal_impulse_conducting0.83212636
132MP0005334_abnormal_fat_pad0.82022793
133MP0002693_abnormal_pancreas_physiology0.80793386
134MP0002752_abnormal_somatic_nervous0.80788500
135MP0005187_abnormal_penis_morphology0.79463091
136MP0002152_abnormal_brain_morphology0.79437131
137MP0000538_abnormal_urinary_bladder0.78620665
138MP0005266_abnormal_metabolism0.77461615
139MP0000026_abnormal_inner_ear0.76634015
140MP0004215_abnormal_myocardial_fiber0.76415081
141MP0009697_abnormal_copulation0.76155270
142MP0001756_abnormal_urination0.75738565
143MP0009764_decreased_sensitivity_to0.75398905
144MP0003633_abnormal_nervous_system0.75360783
145MP0005423_abnormal_somatic_nervous0.75290511
146MP0003943_abnormal_hepatobiliary_system0.73862804
147MP0003121_genomic_imprinting0.73543420
148MP0001533_abnormal_skeleton_physiology0.73299106
149MP0001919_abnormal_reproductive_system0.73254994
150MP0002998_abnormal_bone_remodeling0.73033911
151MP0003631_nervous_system_phenotype0.71468229
152MP0001502_abnormal_circadian_rhythm0.71073324
153MP0000003_abnormal_adipose_tissue0.71065259
154MP0002066_abnormal_motor_capabilities/c0.70948584
155MP0005084_abnormal_gallbladder_morpholo0.69308792
156MP0003698_abnormal_male_reproductive0.68113629
157MP0008469_abnormal_protein_level0.68049650
158MP0009763_increased_sensitivity_to0.67432940
159MP0001881_abnormal_mammary_gland0.66650879
160MP0000427_abnormal_hair_cycle0.66263312
161MP0002295_abnormal_pulmonary_circulatio0.66148591
162MP0005636_abnormal_mineral_homeostasis0.66087530
163MP0002876_abnormal_thyroid_physiology0.66051360
164MP0005584_abnormal_enzyme/coenzyme_acti0.65645949
165MP0009642_abnormal_blood_homeostasis0.64859407
166MP0004130_abnormal_muscle_cell0.64686513
167MP0003091_abnormal_cell_migration0.64194585
168MP0005248_abnormal_Harderian_gland0.63940781
169MP0001879_abnormal_lymphatic_vessel0.63035811
170MP0003795_abnormal_bone_structure0.62154666
171MP0000767_abnormal_smooth_muscle0.61484430
172MP0005464_abnormal_platelet_physiology0.61256930
173MP0002115_abnormal_skeleton_extremities0.60957073
174MP0002136_abnormal_kidney_physiology0.60809371
175MP0005508_abnormal_skeleton_morphology0.60692370
176MP0004185_abnormal_adipocyte_glucose0.60213773
177MP0000163_abnormal_cartilage_morphology0.59783206
178MP0001765_abnormal_ion_homeostasis0.59775007
179MP0000569_abnormal_digit_pigmentation0.58016554
180MP0005666_abnormal_adipose_tissue0.57987518
181MP0010155_abnormal_intestine_physiology0.57945745
182MP0004043_abnormal_pH_regulation0.57550894
183MP0002933_joint_inflammation0.56755038
184MP0001873_stomach_inflammation0.56700682
185MP0005076_abnormal_cell_differentiation0.56326592
186MP0003283_abnormal_digestive_organ0.56048884

Predicted human phenotypes

RankGene SetZ-score
1Hyperventilation (HP:0002883)5.68180223
2Intrahepatic cholestasis (HP:0001406)5.15052070
3Deep venous thrombosis (HP:0002625)5.05450439
4Protruding tongue (HP:0010808)4.88068759
5Birth length less than 3rd percentile (HP:0003561)4.86067180
6Genetic anticipation (HP:0003743)4.79804784
7Abnormality of monocarboxylic acid metabolism (HP:0010996)4.48046569
8Pancreatic cysts (HP:0001737)4.44079113
9Xanthomatosis (HP:0000991)4.19181210
10Abnormality of the common coagulation pathway (HP:0010990)4.06739688
11Pancreatic fibrosis (HP:0100732)4.03974736
12Abnormality of aromatic amino acid family metabolism (HP:0004338)4.03730796
13Abnormality of the intrinsic pathway (HP:0010989)3.94647439
14Molar tooth sign on MRI (HP:0002419)3.87450452
15Abnormality of midbrain morphology (HP:0002418)3.87450452
16Clumsiness (HP:0002312)3.82684970
17Prolonged partial thromboplastin time (HP:0003645)3.81425780
18Progressive cerebellar ataxia (HP:0002073)3.73909188
19True hermaphroditism (HP:0010459)3.73534428
20Hypobetalipoproteinemia (HP:0003563)3.71333545
21Abnormality of alanine metabolism (HP:0010916)3.69786279
22Hyperalaninemia (HP:0003348)3.69786279
23Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.69786279
24Complement deficiency (HP:0004431)3.55963503
25Nephronophthisis (HP:0000090)3.54289769
26Abnormality of glutamine family amino acid metabolism (HP:0010902)3.48178815
27Protrusio acetabuli (HP:0003179)3.45605688
28Hypoglycemic coma (HP:0001325)3.43932648
29Patellar aplasia (HP:0006443)3.42647730
30Gaze-evoked nystagmus (HP:0000640)3.41243072
31Congenital stationary night blindness (HP:0007642)3.37245154
32Fair hair (HP:0002286)3.25499297
33Conjugated hyperbilirubinemia (HP:0002908)3.24680744
34Inability to walk (HP:0002540)3.24347195
35Epidermoid cyst (HP:0200040)3.19844377
36Abnormality of the renal medulla (HP:0100957)3.14403319
37Aplasia/Hypoplasia of the patella (HP:0006498)3.11788440
38Premature rupture of membranes (HP:0001788)3.10500296
39Myocardial infarction (HP:0001658)3.09602413
40Breast hypoplasia (HP:0003187)3.08643568
41Fat malabsorption (HP:0002630)3.07896183
42Aplasia/Hypoplasia of the tibia (HP:0005772)3.05199816
43Cystic liver disease (HP:0006706)3.04441364
44Broad-based gait (HP:0002136)3.01217232
45Hypolipoproteinemia (HP:0010981)2.97253832
46Ketosis (HP:0001946)2.96502598
47Peritonitis (HP:0002586)2.96373047
48Large for gestational age (HP:0001520)2.90765849
49Tubular atrophy (HP:0000092)2.89966388
50Hyperlipoproteinemia (HP:0010980)2.86546166
51Hypoglycemic seizures (HP:0002173)2.81931345
52Furrowed tongue (HP:0000221)2.80627496
53Joint hemorrhage (HP:0005261)2.78945178
54Mitral stenosis (HP:0001718)2.78056843
55Abnormality of sulfur amino acid metabolism (HP:0004339)2.76987553
56Hypoalphalipoproteinemia (HP:0003233)2.74082369
57Hypoplastic ischia (HP:0003175)2.73012254
58Ketoacidosis (HP:0001993)2.71104453
59Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.69353785
60Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.68388893
61Drooling (HP:0002307)2.66339257
62Abnormality of complement system (HP:0005339)2.62208361
63Abnormality of the renal cortex (HP:0011035)2.60341522
64Skin nodule (HP:0200036)2.59256144
65Generalized hypopigmentation of hair (HP:0011358)2.58139589
66Abnormality of proline metabolism (HP:0010907)2.57279724
67Hydroxyprolinuria (HP:0003080)2.57279724
68Aortic aneurysm (HP:0004942)2.56556067
69Progressive inability to walk (HP:0002505)2.56135898
70Hyperammonemia (HP:0001987)2.54272793
71Abnormality of the ischium (HP:0003174)2.53223263
72Hyperglycemia (HP:0003074)2.51528041
73Febrile seizures (HP:0002373)2.49833075
74Aortic dissection (HP:0002647)2.49141671
75Hyperinsulinemic hypoglycemia (HP:0000825)2.48598119
76Medial flaring of the eyebrow (HP:0010747)2.45412796
77Hepatocellular carcinoma (HP:0001402)2.43814696
78Excessive salivation (HP:0003781)2.43251593
79Absent speech (HP:0001344)2.42172168
80Chorioretinal atrophy (HP:0000533)2.40490290
81Attenuation of retinal blood vessels (HP:0007843)2.38485224
82Abnormality of aspartate family amino acid metabolism (HP:0010899)2.35547971
83Chronic hepatic failure (HP:0100626)2.35547522
84Atrophic scars (HP:0001075)2.33336747
85Abnormality of purine metabolism (HP:0004352)2.31852966
86Hypercholesterolemia (HP:0003124)2.30995256
87Aplasia/Hypoplasia of the tongue (HP:0010295)2.30876017
88Widely spaced teeth (HP:0000687)2.29967301
89Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.28958632
90Partial agenesis of the corpus callosum (HP:0001338)2.28212176
91Osteolytic defects of the hand bones (HP:0009699)2.27089124
92Osteolytic defects of the phalanges of the hand (HP:0009771)2.27089124
93Type II lissencephaly (HP:0007260)2.26535356
94Gait imbalance (HP:0002141)2.26353806
95Protuberant abdomen (HP:0001538)2.24972075
96Absent/shortened dynein arms (HP:0200106)2.24955997
97Dynein arm defect of respiratory motile cilia (HP:0012255)2.24955997
98Generalized aminoaciduria (HP:0002909)2.23897356
99Cardiovascular calcification (HP:0011915)2.23164687
100Spontaneous abortion (HP:0005268)2.22831425
101Mitral valve prolapse (HP:0001634)2.22709396
102Abnormality of secondary sexual hair (HP:0009888)2.22702270
103Abnormality of the axillary hair (HP:0100134)2.22702270
104Abnormal respiratory motile cilium morphology (HP:0005938)2.22195204
105Abnormal respiratory epithelium morphology (HP:0012253)2.22195204
106Increased mean platelet volume (HP:0011877)2.18070059
107Hyperbilirubinemia (HP:0002904)2.17181264
108Aneurysm (HP:0002617)2.16883055
109Macroorchidism (HP:0000053)2.15329403
110Cerebral aneurysm (HP:0004944)2.13543196
111Abnormality of methionine metabolism (HP:0010901)2.12658300
112Congenital, generalized hypertrichosis (HP:0004540)2.11848524
113Congenital primary aphakia (HP:0007707)2.11477561
114Esophageal varix (HP:0002040)2.10932195
115Sclerocornea (HP:0000647)2.10737572
116Ectopia lentis (HP:0001083)2.10308547
117Symptomatic seizures (HP:0011145)2.09997102
118Enlarged penis (HP:0000040)2.09291943
119Congenital hepatic fibrosis (HP:0002612)2.08531788
120Concave nail (HP:0001598)2.06666437
121Increased neuronal autofluorescent lipopigment (HP:0002074)2.06584910
122Cervical subluxation (HP:0003308)2.06182494
123Inappropriate behavior (HP:0000719)2.05400419
124Preaxial foot polydactyly (HP:0001841)2.02218620
125Menorrhagia (HP:0000132)2.01848221
126Spastic diplegia (HP:0001264)2.01675625
127Urinary glycosaminoglycan excretion (HP:0003541)2.00610288
128Mucopolysacchariduria (HP:0008155)2.00610288
129Hyperglycinemia (HP:0002154)2.00391583
130Lissencephaly (HP:0001339)2.00106060
131Abnormality of nucleobase metabolism (HP:0010932)1.99889103
132Abdominal distention (HP:0003270)1.99320112
133Nonimmune hydrops fetalis (HP:0001790)1.99028281
134Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.98884447
135Acanthocytosis (HP:0001927)1.98386938
136Hyperglycinuria (HP:0003108)1.97352248
137Anencephaly (HP:0002323)1.96680482
138Poor coordination (HP:0002370)1.95908373
139Steatorrhea (HP:0002570)1.95484777
140Male pseudohermaphroditism (HP:0000037)1.95426898
141Abnormality of glycine metabolism (HP:0010895)1.95107849
142Abnormality of serine family amino acid metabolism (HP:0010894)1.95107849
143Hypoplastic labia majora (HP:0000059)1.95090539
144Macroglossia (HP:0000158)1.94932714
145Back pain (HP:0003418)1.94286399
146Dilatation of the ascending aorta (HP:0005111)1.93913690
147Hypochromic microcytic anemia (HP:0004840)1.93351751
148Vascular calcification (HP:0004934)1.93257996
149Increased corneal curvature (HP:0100692)1.91049718
150Keratoconus (HP:0000563)1.91049718
151Abnormal platelet volume (HP:0011876)1.90793499
152Right ventricular cardiomyopathy (HP:0011663)1.89919837
153Genital tract atresia (HP:0001827)1.89698231
154Gingival bleeding (HP:0000225)1.89025159
155Broad metatarsal (HP:0001783)1.88920183
156Abnormal foot bone ossification (HP:0010675)1.88761487
157Vaginal atresia (HP:0000148)1.87749600
158Blue sclerae (HP:0000592)1.86833921
159Ulnar claw (HP:0001178)1.86294626
160Hemiparesis (HP:0001269)1.86040231
161Dyskinesia (HP:0100660)1.85842563
162Subacute progressive viral hepatitis (HP:0006572)1.85724825
163Microretrognathia (HP:0000308)1.85609252
164Severe muscular hypotonia (HP:0006829)1.85519915
165Hemorrhage of the eye (HP:0011885)1.85283913
166Irregular vertebral endplates (HP:0003301)1.85134129
167Late onset (HP:0003584)1.84305102
168Nephrogenic diabetes insipidus (HP:0009806)1.83897935
169Abnormality of fatty-acid metabolism (HP:0004359)1.82677159
170Focal motor seizures (HP:0011153)1.82268580
171Abnormal enzyme/coenzyme activity (HP:0012379)1.81936018
172Thoracolumbar scoliosis (HP:0002944)1.81081468
173Small hand (HP:0200055)1.80984177
174Abnormality of mucopolysaccharide metabolism (HP:0011020)1.79820366
175Abnormality of polysaccharide metabolism (HP:0011012)1.79820366
176Abnormality of glycosaminoglycan metabolism (HP:0004371)1.79820366
177Elevated alkaline phosphatase (HP:0003155)1.79701056
178Abnormal delivery (HP:0001787)1.79559714
179Abnormality of binocular vision (HP:0011514)1.78702780
180Diplopia (HP:0000651)1.78702780
181Abnormality of the labia majora (HP:0012881)1.78041741
182Blue irides (HP:0000635)1.77526038
183Pancreatitis (HP:0001733)1.76978522
184Exotropia (HP:0000577)1.76516432
185Polydipsia (HP:0001959)1.75601690
186Abnormal drinking behavior (HP:0030082)1.75601690
187Sensorimotor neuropathy (HP:0007141)1.75476263
188Pendular nystagmus (HP:0012043)1.75423405
189Abnormal cartilage morphology (HP:0002763)1.75366753
190Congenital sensorineural hearing impairment (HP:0008527)1.74581470
191Focal seizures (HP:0007359)1.74124799
192Thin bony cortex (HP:0002753)1.73673475
193Dysmetric saccades (HP:0000641)1.72827578
194Abnormality of the vertebral endplates (HP:0005106)1.72718326
195Preaxial hand polydactyly (HP:0001177)1.71047488
196Long nose (HP:0003189)1.70787280
197Intellectual disability, progressive (HP:0006887)1.70229951
198Cerebellar dysplasia (HP:0007033)1.68995966
199Short foot (HP:0001773)1.68339521

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B5.66464134
2BMPR1B4.25115256
3LATS14.21722531
4ERN13.56838873
5FRK3.51519471
6SIK13.35765564
7CASK3.27605224
8TAOK33.18305560
9ADRBK22.82209010
10TRIB32.80299620
11INSRR2.77310832
12PKN22.45212610
13FGFR42.37281500
14PTK62.30512385
15TGFBR12.13677466
16EPHA32.09352840
17STK32.07971070
18PNCK2.02649466
19TLK12.00128045
20PDGFRA1.98586480
21NUAK11.93869899
22GRK11.89003951
23MKNK21.85116093
24DAPK21.82343673
25DDR21.80785861
26ZAK1.80720854
27TGFBR21.74058409
28NEK91.72394607
29JAK11.71073537
30NTRK31.69148311
31BCKDK1.68975451
32SIK21.66271747
33ADRBK11.53149416
34FLT31.50829448
35WNK41.46953192
36MAP3K41.45742715
37RIPK11.45015879
38TTN1.43834840
39FGFR31.42405999
40CAMKK21.40069144
41WNK31.37368071
42MARK11.34449394
43MAPK131.30477486
44MAP3K21.28155825
45PTK21.24272669
46JAK31.22673905
47FGFR21.20560634
48TNIK1.17682300
49PIK3CG1.15023843
50STK101.14572468
51TYK21.13666396
52ERBB41.10101965
53PDGFRB1.08647521
54CAMK1D1.07515686
55TRPM71.06820942
56PTK2B1.06807943
57MAP3K141.06182909
58NEK21.04955799
59MST1R1.03104435
60FER1.01397748
61JAK20.99621100
62CDK60.99478951
63LRRK20.98063965
64TBK10.97587211
65WNK10.96509884
66EPHB10.96320346
67OXSR10.94955757
68HIPK20.91561302
69MAP3K70.88054614
70PRKCH0.86877002
71NTRK20.86512924
72DYRK1B0.84601727
73MAP3K30.84433947
74MAP2K70.83347320
75EEF2K0.83076951
76RET0.83023922
77FGFR10.82842404
78PIK3CA0.81195215
79PAK30.79653469
80SCYL20.78955738
81CAMKK10.78333158
82PINK10.78026071
83PASK0.77410003
84PAK20.77260240
85MTOR0.76947902
86MET0.76090699
87ITK0.75031370
88MAP2K30.73420096
89CHUK0.73376863
90MAP3K100.73180788
91PRKCG0.73142520
92SGK30.71398919
93EPHA20.71282882
94CDK120.68856399
95BRSK20.68461907
96IRAK30.67172646
97PRKCE0.67114444
98PRKAA20.66979625
99SGK4940.66473472
100SGK2230.66473472
101IGF1R0.63606306
102MAPK110.63471801
103TYRO30.63130155
104STK390.62418617
105CAMK1G0.62168666
106STK240.62151449
107RPS6KA60.60308290
108MAP3K90.59953638
109CSK0.59333600
110PLK40.59056334
111BMX0.58490211
112ICK0.58137925
113CAMK2A0.57605504
114ZAP700.56551084
115MKNK10.56313508
116STK380.56223373
117CAMK10.54853211
118MAP2K10.52744224
119ERBB30.52680737
120CSF1R0.52482196
121ERBB20.52328310
122CDC42BPA0.51662997
123TIE10.50626191
124MAP2K40.50590061
125DMPK0.50481492
126TEC0.50337045
127PKN10.49964043
128STK110.48989548
129IKBKE0.47806311
130GSK3A0.45244147
131MAP3K10.44611300
132AKT30.43567744
133CSNK1D0.43333903
134CAMK40.42401532
135PRKAA10.41688060
136RPS6KA40.41308339
137STK38L0.40392795
138INSR0.39547508
139RPS6KA50.38978893
140IRAK10.38065081
141MAP2K60.35688552
142PDK10.34505039
143PRKCQ0.32950340
144PRKG20.32770550
145EGFR0.32523013
146SGK20.32377366
147SGK10.32277331
148KIT0.32008466
149MELK0.30131882
150MAP4K10.30127268
151ABL10.29936945
152MARK20.29074949
153RPS6KB10.28684986
154MAPK150.28034222
155CDK30.27751999
156CDK90.27679167
157IKBKB0.27064153
158PRKCZ0.26650113
159MAP3K60.26555412
160MAPKAPK30.25671820
161CAMK2B0.24816909
162PRKACA0.23950446
163RPS6KA30.23491186
164OBSCN0.22145254
165CHEK20.19314311
166PRKACB0.18668599
167CSNK1G20.17993237
168PRKG10.17911253

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.60999696
2Nitrogen metabolism_Homo sapiens_hsa009103.11606384
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.04769560
4Linoleic acid metabolism_Homo sapiens_hsa005912.95066400
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.94556290
6Nicotine addiction_Homo sapiens_hsa050332.89731979
7Maturity onset diabetes of the young_Homo sapiens_hsa049502.86766610
8Tryptophan metabolism_Homo sapiens_hsa003802.63945317
9Phototransduction_Homo sapiens_hsa047442.60893162
10Complement and coagulation cascades_Homo sapiens_hsa046102.47748590
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.46306923
12Arginine biosynthesis_Homo sapiens_hsa002202.35359751
13Fatty acid degradation_Homo sapiens_hsa000712.34633642
14Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.09367530
15Ether lipid metabolism_Homo sapiens_hsa005652.09038373
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.07112269
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.00715971
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.97742484
19Sulfur metabolism_Homo sapiens_hsa009201.91857170
20Caffeine metabolism_Homo sapiens_hsa002321.85919568
21Taste transduction_Homo sapiens_hsa047421.83294609
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.80603146
23Selenocompound metabolism_Homo sapiens_hsa004501.76911035
24PPAR signaling pathway_Homo sapiens_hsa033201.75293330
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.71346742
26Glutamatergic synapse_Homo sapiens_hsa047241.69913251
27Starch and sucrose metabolism_Homo sapiens_hsa005001.66873637
28Morphine addiction_Homo sapiens_hsa050321.65915717
29Peroxisome_Homo sapiens_hsa041461.60942538
30Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.60059723
31Olfactory transduction_Homo sapiens_hsa047401.58428718
32Circadian entrainment_Homo sapiens_hsa047131.58149580
33Histidine metabolism_Homo sapiens_hsa003401.55324310
34Fat digestion and absorption_Homo sapiens_hsa049751.55127714
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.54081817
36Butanoate metabolism_Homo sapiens_hsa006501.53082127
37Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.52098747
38Fatty acid metabolism_Homo sapiens_hsa012121.51674920
39Dorso-ventral axis formation_Homo sapiens_hsa043201.51160747
40Chemical carcinogenesis_Homo sapiens_hsa052041.49611612
41Staphylococcus aureus infection_Homo sapiens_hsa051501.47797024
42Serotonergic synapse_Homo sapiens_hsa047261.46851006
43Propanoate metabolism_Homo sapiens_hsa006401.45252635
44Steroid hormone biosynthesis_Homo sapiens_hsa001401.44895727
45ABC transporters_Homo sapiens_hsa020101.42588509
46Long-term depression_Homo sapiens_hsa047301.41557507
47Insulin secretion_Homo sapiens_hsa049111.40668182
48Bile secretion_Homo sapiens_hsa049761.40405149
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.39972317
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.39714460
51beta-Alanine metabolism_Homo sapiens_hsa004101.37405086
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.33915854
53Calcium signaling pathway_Homo sapiens_hsa040201.30717874
54Lysine degradation_Homo sapiens_hsa003101.30695231
55Phenylalanine metabolism_Homo sapiens_hsa003601.25771544
56Vascular smooth muscle contraction_Homo sapiens_hsa042701.24783662
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.23423074
58Drug metabolism - other enzymes_Homo sapiens_hsa009831.22726380
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22007016
60Retinol metabolism_Homo sapiens_hsa008301.18706787
61Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.16276915
62GABAergic synapse_Homo sapiens_hsa047271.14661900
63Gastric acid secretion_Homo sapiens_hsa049711.11256946
64Dopaminergic synapse_Homo sapiens_hsa047281.11010223
65Cocaine addiction_Homo sapiens_hsa050301.10105493
66Intestinal immune network for IgA production_Homo sapiens_hsa046721.09568116
67Vitamin digestion and absorption_Homo sapiens_hsa049771.00236097
68Cholinergic synapse_Homo sapiens_hsa047250.99885104
69Tyrosine metabolism_Homo sapiens_hsa003500.98001470
70Protein digestion and absorption_Homo sapiens_hsa049740.97051388
71Salivary secretion_Homo sapiens_hsa049700.96294137
72Oxytocin signaling pathway_Homo sapiens_hsa049210.95901820
73Arachidonic acid metabolism_Homo sapiens_hsa005900.95356022
74ECM-receptor interaction_Homo sapiens_hsa045120.93308150
75Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.91385769
76Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.89919348
77Folate biosynthesis_Homo sapiens_hsa007900.89910792
782-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.89157872
79Insulin resistance_Homo sapiens_hsa049310.88090344
80Homologous recombination_Homo sapiens_hsa034400.86989986
81cAMP signaling pathway_Homo sapiens_hsa040240.83217792
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.83076212
83Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.82997977
84Circadian rhythm_Homo sapiens_hsa047100.82653341
85Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.80629516
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80217296
87Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.79022717
88Aldosterone synthesis and secretion_Homo sapiens_hsa049250.78697834
89Fanconi anemia pathway_Homo sapiens_hsa034600.78112361
90Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75067156
91Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.74191537
92Renin-angiotensin system_Homo sapiens_hsa046140.73293166
93Amphetamine addiction_Homo sapiens_hsa050310.73032239
94MAPK signaling pathway_Homo sapiens_hsa040100.72785309
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70092839
96Axon guidance_Homo sapiens_hsa043600.68149551
97Pyruvate metabolism_Homo sapiens_hsa006200.67193118
98Focal adhesion_Homo sapiens_hsa045100.63802058
99Mineral absorption_Homo sapiens_hsa049780.63522725
100Melanoma_Homo sapiens_hsa052180.61036953
101Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.60716950
102Glycerolipid metabolism_Homo sapiens_hsa005610.60676817
103Steroid biosynthesis_Homo sapiens_hsa001000.60509735
104Amoebiasis_Homo sapiens_hsa051460.59913958
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.58752816
106cGMP-PKG signaling pathway_Homo sapiens_hsa040220.58396784
107Pancreatic secretion_Homo sapiens_hsa049720.58233157
108Carbon metabolism_Homo sapiens_hsa012000.58054119
109Arginine and proline metabolism_Homo sapiens_hsa003300.57565654
110Ras signaling pathway_Homo sapiens_hsa040140.57442465
111Fatty acid elongation_Homo sapiens_hsa000620.56909195
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.56091843
113Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.55347604
114Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.53638710
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51306637
116Biosynthesis of amino acids_Homo sapiens_hsa012300.50958080
117Glycosaminoglycan degradation_Homo sapiens_hsa005310.50639453
118Hippo signaling pathway_Homo sapiens_hsa043900.49725585
119TGF-beta signaling pathway_Homo sapiens_hsa043500.48521513
120FoxO signaling pathway_Homo sapiens_hsa040680.48483086
121Galactose metabolism_Homo sapiens_hsa000520.48464383
122Basal cell carcinoma_Homo sapiens_hsa052170.48174827
123Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46607331
124Estrogen signaling pathway_Homo sapiens_hsa049150.45496310
125Cysteine and methionine metabolism_Homo sapiens_hsa002700.45256395
126Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45119534
127Adherens junction_Homo sapiens_hsa045200.44667090
128One carbon pool by folate_Homo sapiens_hsa006700.42244955
129Small cell lung cancer_Homo sapiens_hsa052220.42064367
130Renin secretion_Homo sapiens_hsa049240.41750739
131Bladder cancer_Homo sapiens_hsa052190.40756053
132Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39898610
133Proteoglycans in cancer_Homo sapiens_hsa052050.39479540
134Cardiac muscle contraction_Homo sapiens_hsa042600.36969264
135Choline metabolism in cancer_Homo sapiens_hsa052310.36446821
136Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36158330
137Glucagon signaling pathway_Homo sapiens_hsa049220.35599427
138N-Glycan biosynthesis_Homo sapiens_hsa005100.35374376
139Thyroid hormone synthesis_Homo sapiens_hsa049180.35339307
140Hedgehog signaling pathway_Homo sapiens_hsa043400.34475069
141Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34274991
142Prolactin signaling pathway_Homo sapiens_hsa049170.34234491
143Type II diabetes mellitus_Homo sapiens_hsa049300.33849305
144Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.33256117
145Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.32836530
146AMPK signaling pathway_Homo sapiens_hsa041520.32685554
147GnRH signaling pathway_Homo sapiens_hsa049120.32371960
148Fatty acid biosynthesis_Homo sapiens_hsa000610.32360840
149Regulation of autophagy_Homo sapiens_hsa041400.31787421
150Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.31317633
151Ovarian steroidogenesis_Homo sapiens_hsa049130.30988304
152Prostate cancer_Homo sapiens_hsa052150.30101060
153Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.29649271
154Toxoplasmosis_Homo sapiens_hsa051450.29021599
155Glutathione metabolism_Homo sapiens_hsa004800.28851219
156Prion diseases_Homo sapiens_hsa050200.28597654
157Protein export_Homo sapiens_hsa030600.28465406
158Lysosome_Homo sapiens_hsa041420.27859603
159Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.26157478
160Chronic myeloid leukemia_Homo sapiens_hsa052200.26005764
161TNF signaling pathway_Homo sapiens_hsa046680.23331334
162AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.22741144
163Pancreatic cancer_Homo sapiens_hsa052120.22239063
164NF-kappa B signaling pathway_Homo sapiens_hsa040640.22187932
165Leukocyte transendothelial migration_Homo sapiens_hsa046700.21999150
166Cyanoamino acid metabolism_Homo sapiens_hsa004600.21934272
167Hepatitis C_Homo sapiens_hsa051600.20763242

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