DBT

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: The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.19403386
2L-phenylalanine catabolic process (GO:0006559)7.19403386
3L-phenylalanine metabolic process (GO:0006558)6.85914011
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.85914011
5aromatic amino acid family catabolic process (GO:0009074)6.17891122
6glyoxylate metabolic process (GO:0046487)5.73932160
7cysteine metabolic process (GO:0006534)5.54698973
8indole-containing compound catabolic process (GO:0042436)5.32553130
9indolalkylamine catabolic process (GO:0046218)5.32553130
10tryptophan catabolic process (GO:0006569)5.32553130
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.30606423
12kynurenine metabolic process (GO:0070189)5.29177876
13alpha-linolenic acid metabolic process (GO:0036109)5.27806338
14bile acid biosynthetic process (GO:0006699)5.20361665
15sulfur amino acid catabolic process (GO:0000098)5.06752832
16tryptophan metabolic process (GO:0006568)5.04985012
17lysine catabolic process (GO:0006554)5.04183045
18lysine metabolic process (GO:0006553)5.04183045
19serine family amino acid catabolic process (GO:0009071)4.85706015
20fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.74596816
21homocysteine metabolic process (GO:0050667)4.66871463
22urea metabolic process (GO:0019627)4.57882995
23urea cycle (GO:0000050)4.57882995
24amino-acid betaine metabolic process (GO:0006577)4.53685565
25alpha-amino acid catabolic process (GO:1901606)4.53220456
26cellular ketone body metabolic process (GO:0046950)4.53123724
27aromatic amino acid family metabolic process (GO:0009072)4.52581033
28short-chain fatty acid metabolic process (GO:0046459)4.52300859
29regulation of triglyceride catabolic process (GO:0010896)4.49717641
30complement activation, alternative pathway (GO:0006957)4.48598782
31acetyl-CoA metabolic process (GO:0006084)4.47255819
32bile acid metabolic process (GO:0008206)4.46142895
33negative regulation of fibrinolysis (GO:0051918)4.44219867
34protein carboxylation (GO:0018214)4.43093210
35peptidyl-glutamic acid carboxylation (GO:0017187)4.43093210
36aspartate family amino acid catabolic process (GO:0009068)4.34833751
37regulation of fibrinolysis (GO:0051917)4.33917928
38regulation of protein activation cascade (GO:2000257)4.30895779
39high-density lipoprotein particle remodeling (GO:0034375)4.29829074
40* cellular amino acid catabolic process (GO:0009063)4.29434222
41tyrosine metabolic process (GO:0006570)4.28685201
42serine family amino acid metabolic process (GO:0009069)4.28321593
43coenzyme catabolic process (GO:0009109)4.27665147
44nitrogen cycle metabolic process (GO:0071941)4.26445687
45fatty acid beta-oxidation (GO:0006635)4.26279573
46serine family amino acid biosynthetic process (GO:0009070)4.15617469
47ethanol oxidation (GO:0006069)4.14808429
48glycine metabolic process (GO:0006544)4.13471906
49fatty acid oxidation (GO:0019395)4.10742838
50triglyceride homeostasis (GO:0070328)4.08478820
51acylglycerol homeostasis (GO:0055090)4.08478820
52plasma lipoprotein particle clearance (GO:0034381)4.07932749
53glutamate metabolic process (GO:0006536)4.07500000
54* branched-chain amino acid catabolic process (GO:0009083)4.06331583
55fatty acid catabolic process (GO:0009062)4.04504391
56regulation of complement activation (GO:0030449)4.04170084
57lipid oxidation (GO:0034440)4.03449271
58cellular modified amino acid catabolic process (GO:0042219)4.02477649
59* organic acid catabolic process (GO:0016054)3.95612312
60* carboxylic acid catabolic process (GO:0046395)3.95612312
61monocarboxylic acid catabolic process (GO:0072329)3.93149993
62ketone body metabolic process (GO:1902224)3.92399893
632-oxoglutarate metabolic process (GO:0006103)3.86889014
64valine metabolic process (GO:0006573)3.85833010
65amine catabolic process (GO:0009310)3.84978127
66cellular biogenic amine catabolic process (GO:0042402)3.84978127
67plasma lipoprotein particle remodeling (GO:0034369)3.80558675
68protein-lipid complex remodeling (GO:0034368)3.80558675
69macromolecular complex remodeling (GO:0034367)3.80558675
70reverse cholesterol transport (GO:0043691)3.79895355
71indolalkylamine metabolic process (GO:0006586)3.76785407
72biotin metabolic process (GO:0006768)3.75965931
73cellular glucuronidation (GO:0052695)3.71754178
74* branched-chain amino acid metabolic process (GO:0009081)3.71706035
75water-soluble vitamin biosynthetic process (GO:0042364)3.67235302
76regulation of cholesterol esterification (GO:0010872)3.65020522
77very long-chain fatty acid metabolic process (GO:0000038)3.63252838
78dicarboxylic acid biosynthetic process (GO:0043650)3.62146629
79benzene-containing compound metabolic process (GO:0042537)3.60845590
80negative regulation of sterol transport (GO:0032372)3.60759394
81negative regulation of cholesterol transport (GO:0032375)3.60759394
82aldehyde catabolic process (GO:0046185)3.57850396
83behavioral response to nicotine (GO:0035095)3.57342664
84drug catabolic process (GO:0042737)3.55671913
85acyl-CoA metabolic process (GO:0006637)3.54090453
86thioester metabolic process (GO:0035383)3.54090453
87heme transport (GO:0015886)3.53042046
88cofactor catabolic process (GO:0051187)3.52902871
89carnitine metabolic process (GO:0009437)3.52150660
90fatty acid elongation (GO:0030497)3.49654891
91bile acid and bile salt transport (GO:0015721)3.49328027
92fatty acid transmembrane transport (GO:1902001)3.47647721
93regulation of cholesterol metabolic process (GO:0090181)3.47451389
94cholesterol homeostasis (GO:0042632)3.47306518
95drug transmembrane transport (GO:0006855)3.44261978
96sterol homeostasis (GO:0055092)3.42576117
97L-serine metabolic process (GO:0006563)3.41758997
98phospholipid homeostasis (GO:0055091)3.40873962
99regulation of sequestering of triglyceride (GO:0010889)3.40128477
100positive regulation of lipid catabolic process (GO:0050996)3.39782843
101cholesterol efflux (GO:0033344)3.39693483
102positive regulation of fatty acid beta-oxidation (GO:0032000)3.39629470
103phenol-containing compound catabolic process (GO:0019336)3.27984529
104pyrimidine nucleobase catabolic process (GO:0006208)3.18172411
105exogenous drug catabolic process (GO:0042738)3.10767841
106oxidative demethylation (GO:0070989)3.08932803
107L-fucose catabolic process (GO:0042355)3.08126112
108fucose catabolic process (GO:0019317)3.08126112
109L-fucose metabolic process (GO:0042354)3.08126112
110nonmotile primary cilium assembly (GO:0035058)2.95817861
111protein K11-linked deubiquitination (GO:0035871)2.95107996
112nucleobase catabolic process (GO:0046113)2.94129614
113thyroid hormone metabolic process (GO:0042403)2.93590961
114response to pheromone (GO:0019236)2.90161892
115negative regulation of translation, ncRNA-mediated (GO:0040033)2.87910408
116regulation of translation, ncRNA-mediated (GO:0045974)2.87910408
117negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.87910408
118G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.85471743
119thyroid hormone generation (GO:0006590)2.83114062
120amino acid salvage (GO:0043102)2.79963474
121L-methionine salvage (GO:0071267)2.79963474
122L-methionine biosynthetic process (GO:0071265)2.79963474
123detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.79256947
124S-adenosylmethionine metabolic process (GO:0046500)2.74512302
125regulation of hexokinase activity (GO:1903299)2.74238913
126regulation of glucokinase activity (GO:0033131)2.74238913
127regulation of hippo signaling (GO:0035330)2.73329393
128L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72959162
129regulation of gene silencing by miRNA (GO:0060964)2.72219601
130regulation of gene silencing by RNA (GO:0060966)2.72219601
131regulation of posttranscriptional gene silencing (GO:0060147)2.72219601
132methionine biosynthetic process (GO:0009086)2.70433387
133gamma-aminobutyric acid transport (GO:0015812)2.70234180
134C4-dicarboxylate transport (GO:0015740)2.69277782
135detection of light stimulus involved in visual perception (GO:0050908)2.67085058
136detection of light stimulus involved in sensory perception (GO:0050962)2.67085058
137presynaptic membrane assembly (GO:0097105)2.64025736
138photoreceptor cell maintenance (GO:0045494)2.63313914
139mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.59352250
140mitochondrial respiratory chain complex I assembly (GO:0032981)2.59352250
141NADH dehydrogenase complex assembly (GO:0010257)2.59352250
142negative regulation of DNA-dependent DNA replication (GO:2000104)2.55212842
143replication fork processing (GO:0031297)2.55118638
144prenylation (GO:0097354)2.53053105
145protein prenylation (GO:0018342)2.53053105
146response to nitrosative stress (GO:0051409)2.51077776
147negative regulation of cytosolic calcium ion concentration (GO:0051481)2.48059690
148somite development (GO:0061053)2.45942061
149regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.42122729
150methionine metabolic process (GO:0006555)2.41919390
151sulfur amino acid biosynthetic process (GO:0000097)2.40611810
152DNA double-strand break processing (GO:0000729)2.36849520
153neural tube formation (GO:0001841)2.34973104
154presynaptic membrane organization (GO:0097090)2.34165766
155reciprocal DNA recombination (GO:0035825)2.34017981
156reciprocal meiotic recombination (GO:0007131)2.34017981
157aspartate family amino acid biosynthetic process (GO:0009067)2.33254003
158reflex (GO:0060004)2.32322006
159regulation of nuclear cell cycle DNA replication (GO:0033262)2.31829542
160aspartate family amino acid metabolic process (GO:0009066)2.30566913
161regulation of acyl-CoA biosynthetic process (GO:0050812)2.30205065
162protein complex biogenesis (GO:0070271)2.29145821
163dopamine transport (GO:0015872)2.27569166
164regulation of action potential (GO:0098900)2.26906332
165regulation of mitotic spindle checkpoint (GO:1903504)2.25735000
166regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.25735000
167otic vesicle formation (GO:0030916)2.23700289
168epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.22864475
169carnitine shuttle (GO:0006853)2.21645197
170respiratory chain complex IV assembly (GO:0008535)2.21553957
171regulation of mesoderm development (GO:2000380)2.20966331
172protein polyglutamylation (GO:0018095)2.18907212
173cilium morphogenesis (GO:0060271)2.18694032
174somite rostral/caudal axis specification (GO:0032525)2.17944185
175recombinational repair (GO:0000725)2.16973643
176indole-containing compound metabolic process (GO:0042430)2.16868311
177mitochondrial respiratory chain complex assembly (GO:0033108)2.16786698

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.49905875
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.38975144
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.38434035
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.02671247
5EGR1_23403033_ChIP-Seq_LIVER_Mouse5.95239870
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.80907056
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.40086719
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.73606503
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.33499450
10GBX2_23144817_ChIP-Seq_PC3_Human3.19457030
11SALL1_21062744_ChIP-ChIP_HESCs_Human3.17942141
12TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.95013021
13VDR_22108803_ChIP-Seq_LS180_Human2.91562104
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.87903370
15ZNF274_21170338_ChIP-Seq_K562_Hela2.79830981
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.75390825
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.72822881
18IGF1R_20145208_ChIP-Seq_DFB_Human2.70287296
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.48986694
20FUS_26573619_Chip-Seq_HEK293_Human2.48293369
21EWS_26573619_Chip-Seq_HEK293_Human2.44611127
22EZH2_22144423_ChIP-Seq_EOC_Human2.24942826
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.18716032
24FLI1_27457419_Chip-Seq_LIVER_Mouse2.14749848
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.12164162
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.11662275
27* P300_19829295_ChIP-Seq_ESCs_Human2.06740079
28ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.7492584
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.95489684
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.94928760
31CLOCK_20551151_ChIP-Seq_293T_Human1.90662517
32HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.89255545
33ER_23166858_ChIP-Seq_MCF-7_Human1.87744822
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84852897
35TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.84142580
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82395563
37STAT3_23295773_ChIP-Seq_U87_Human1.76350434
38* SMAD4_21799915_ChIP-Seq_A2780_Human1.74672684
39MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.70561723
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.68501162
41FOXA2_19822575_ChIP-Seq_HepG2_Human1.65297384
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.59922545
43HTT_18923047_ChIP-ChIP_STHdh_Human1.58731350
44TCF4_23295773_ChIP-Seq_U87_Human1.56330211
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.55884423
46CBP_20019798_ChIP-Seq_JUKART_Human1.55884423
47PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55674665
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51961987
49MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.51749053
50NR3C1_21868756_ChIP-Seq_MCF10A_Human1.50231962
51STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.49572678
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.49006344
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47565844
54PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46731078
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.46558773
56TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.44458752
57AR_21572438_ChIP-Seq_LNCaP_Human1.41400921
58* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.40975387
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.40842532
60MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37439976
61POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.37178530
62TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37178530
63TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37082249
64PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.37051211
65TCF4_22108803_ChIP-Seq_LS180_Human1.35512304
66AR_25329375_ChIP-Seq_VCAP_Human1.34852326
67RBPJ_22232070_ChIP-Seq_NCS_Mouse1.33181538
68NFE2_27457419_Chip-Seq_LIVER_Mouse1.32938290
69HNF4A_19822575_ChIP-Seq_HepG2_Human1.32138667
70KLF5_20875108_ChIP-Seq_MESCs_Mouse1.30239893
71ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.28906710
72TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28194802
73EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.26763663
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.25885143
75RUNX2_22187159_ChIP-Seq_PCA_Human1.22724957
76CRX_20693478_ChIP-Seq_RETINA_Mouse1.19972818
77SOX2_27498859_Chip-Seq_STOMACH_Mouse1.18548813
78SOX2_19829295_ChIP-Seq_ESCs_Human1.17710772
79NANOG_19829295_ChIP-Seq_ESCs_Human1.17710772
80PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.16475468
81P53_22387025_ChIP-Seq_ESCs_Mouse1.15680615
82EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.15639817
83ELK1_19687146_ChIP-ChIP_HELA_Human1.14920040
84GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.14508699
85SMAD4_21741376_ChIP-Seq_EPCs_Human1.14219435
86HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.13953556
87RNF2_27304074_Chip-Seq_NSC_Mouse1.13039838
88TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.12304402
89E2F1_18555785_Chip-Seq_ESCs_Mouse1.11249757
90FLI1_21867929_ChIP-Seq_TH2_Mouse1.11183962
91TP53_22573176_ChIP-Seq_HFKS_Human1.09988305
92CBX2_27304074_Chip-Seq_ESCs_Mouse1.09785137
93GATA1_22025678_ChIP-Seq_K562_Human1.09122550
94BMI1_23680149_ChIP-Seq_NPCS_Mouse1.07259107
95ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.06548365
96AUTS2_25519132_ChIP-Seq_293T-REX_Human1.05522610
97SALL4_18804426_ChIP-ChIP_XEN_Mouse1.04273785
98PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04239940
99RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03525163
100SUZ12_18555785_Chip-Seq_ESCs_Mouse1.03408354
101STAT3_18555785_Chip-Seq_ESCs_Mouse1.03318556
102ESR2_21235772_ChIP-Seq_MCF-7_Human1.02630232
103JUN_21703547_ChIP-Seq_K562_Human1.02261586
104KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.01210554
105SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.01122271
106OCT4_21477851_ChIP-Seq_ESCs_Mouse1.00507380
107MYC_18940864_ChIP-ChIP_HL60_Human1.00186497
108SOX2_21211035_ChIP-Seq_LN229_Gbm0.99847983
109NRF2_20460467_ChIP-Seq_MEFs_Mouse0.99697342
110NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.99697342
111STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99435346
112GATA4_25053715_ChIP-Seq_YYC3_Human0.99354589
113P300_18555785_Chip-Seq_ESCs_Mouse0.98595876
114PRDM14_20953172_ChIP-Seq_ESCs_Human0.98507027
115TAF15_26573619_Chip-Seq_HEK293_Human0.97855366
116TAL1_26923725_Chip-Seq_HPCs_Mouse0.97619316
117TBX3_20139965_ChIP-Seq_ESCs_Mouse0.97504894
118KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97474955
119AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.93846161
120ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92976904
121ZNF263_19887448_ChIP-Seq_K562_Human0.89905072
122FOXO3_23340844_ChIP-Seq_DLD1_Human0.86187113
123RXRA_24833708_ChIP-Seq_LIVER_Mouse0.86173332
124CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.85370985
125SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.84814084
126PPAR_26484153_Chip-Seq_NCI-H1993_Human0.84657924
127* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.84425278
128BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.83478663
129RARG_19884340_ChIP-ChIP_MEFs_Mouse0.79638666
130ESR1_20079471_ChIP-ChIP_T-47D_Human0.77897930
131STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.76675145
132* FOXA1_25552417_ChIP-Seq_VCAP_Human0.75711046
133CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.74852275
134FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.73587052
135* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.71851748
136CBP_21632823_ChIP-Seq_H3396_Human0.70450951
137NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.70372423
138PIAS1_25552417_ChIP-Seq_VCAP_Human0.68881629
139EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.68692587
140ESR1_21235772_ChIP-Seq_MCF-7_Human0.68458109
141* TBX20_22328084_ChIP-Seq_HEART_Mouse0.67295002
142* TBX20_22080862_ChIP-Seq_HEART_Mouse0.67295002
143SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.66623720
144PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.65758411
145KAP1_22055183_ChIP-Seq_ESCs_Mouse0.65674225
146CEBPB_22108803_ChIP-Seq_LS180_Human0.65625877
147THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.64190267
148Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.61839118
149* EP300_21415370_ChIP-Seq_HL-1_Mouse0.61691061
150ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.61579628
151BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.60569462
152ESET_19884257_ChIP-Seq_ESCs_Mouse0.58178532
153NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.57614932
154CDX2_22108803_ChIP-Seq_LS180_Human0.56127184
155* AR_20517297_ChIP-Seq_VCAP_Human0.54700336
156EGR1_19032775_ChIP-ChIP_M12_Human0.54409857
157FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.53287377
158PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53141564
159* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.52787378
160SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.52664548
161SOX2_20726797_ChIP-Seq_SW620_Human0.51626710
162AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.50305441
163* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.49981387
164ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.48374113
165CDX2_19796622_ChIP-Seq_MESCs_Mouse0.48032165
166BCAT_22108803_ChIP-Seq_LS180_Human0.47572846
167STAT3_1855785_ChIP-Seq_MESCs_Mouse0.47479859
168MYC_19915707_ChIP-ChIP_AK7_Human0.47282817
169* GATA3_24758297_ChIP-Seq_MCF-7_Human0.46340557
170TRIM28_21343339_ChIP-Seq_HEK293_Human0.46302545
171PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.46115443
172CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.45411131
173IRF1_19129219_ChIP-ChIP_H3396_Human0.45270092
174SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.45179747
175GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.44968448
176RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.43920193
177* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43284604
178ERG_20517297_ChIP-Seq_VCAP_Human0.42598218
179RARA_24833708_ChIP-Seq_LIVER_Mouse0.42103110
180P53_21459846_ChIP-Seq_SAOS-2_Human0.41895475
181* EOMES_21245162_ChIP-Seq_HESCs_Human0.41739992
182TAF2_19829295_ChIP-Seq_ESCs_Human0.41703990
183UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.41482984
184FOXM1_26456572_ChIP-Seq_MCF-7_Human0.41275162

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.22590409
2MP0005360_urolithiasis6.82037782
3MP0005085_abnormal_gallbladder_physiolo5.74864492
4MP0005365_abnormal_bile_salt5.69993835
5MP0003806_abnormal_nucleotide_metabolis4.51640592
6MP0008875_abnormal_xenobiotic_pharmacok4.42835344
7MP0003252_abnormal_bile_duct3.27771676
8MP0010329_abnormal_lipoprotein_level3.20461400
9* MP0005332_abnormal_amino_acid3.12099907
10MP0005083_abnormal_biliary_tract3.00552974
11MP0003195_calcinosis2.97728147
12MP0001666_abnormal_nutrient_absorption2.80032374
13MP0009840_abnormal_foam_cell2.74530400
14MP0008877_abnormal_DNA_methylation2.39407848
15MP0002118_abnormal_lipid_homeostasis2.29640893
16MP0003890_abnormal_embryonic-extraembry2.19449823
17MP0000569_abnormal_digit_pigmentation2.16839906
18MP0004019_abnormal_vitamin_homeostasis2.16375264
19MP0005551_abnormal_eye_electrophysiolog2.07674730
20MP0005670_abnormal_white_adipose2.05885375
21MP0003136_yellow_coat_color2.00347253
22MP0000609_abnormal_liver_physiology1.97938328
23MP0001984_abnormal_olfaction1.93222611
24MP0004145_abnormal_muscle_electrophysio1.88544308
25MP0005451_abnormal_body_composition1.87895531
26MP0002102_abnormal_ear_morphology1.86479991
27MP0002736_abnormal_nociception_after1.85689388
28MP0006072_abnormal_retinal_apoptosis1.82385905
29MP0003868_abnormal_feces_composition1.78690770
30MP0003191_abnormal_cellular_cholesterol1.75153970
31MP0004215_abnormal_myocardial_fiber1.74350624
32MP0005319_abnormal_enzyme/_coenzyme1.73046268
33MP0004130_abnormal_muscle_cell1.65013074
34MP0003186_abnormal_redox_activity1.64243340
35MP0005666_abnormal_adipose_tissue1.62870734
36MP0002837_dystrophic_cardiac_calcinosis1.61010149
37* MP0005584_abnormal_enzyme/coenzyme_acti1.60676209
38MP0003880_abnormal_central_pattern1.59308881
39MP0001764_abnormal_homeostasis1.58967312
40MP0002234_abnormal_pharynx_morphology1.54411840
41MP0000427_abnormal_hair_cycle1.52075888
42MP0001968_abnormal_touch/_nociception1.50614307
43* MP0009643_abnormal_urine_homeostasis1.48401231
44MP0005253_abnormal_eye_physiology1.46618671
45MP0002138_abnormal_hepatobiliary_system1.46518159
46MP0001661_extended_life_span1.45923083
47MP0002938_white_spotting1.45202159
48MP0002272_abnormal_nervous_system1.44915875
49MP0005187_abnormal_penis_morphology1.41348234
50MP0006036_abnormal_mitochondrial_physio1.40595175
51MP0000383_abnormal_hair_follicle1.40524195
52MP0006292_abnormal_olfactory_placode1.39855751
53MP0006276_abnormal_autonomic_nervous1.37748210
54MP0001485_abnormal_pinna_reflex1.35833008
55MP0003690_abnormal_glial_cell1.34077216
56MP0003937_abnormal_limbs/digits/tail_de1.33651231
57MP0003787_abnormal_imprinting1.33386591
58MP0009046_muscle_twitch1.31863967
59MP0000631_abnormal_neuroendocrine_gland1.31354374
60MP0004147_increased_porphyrin_level1.31279857
61MP0005646_abnormal_pituitary_gland1.27088454
62MP0002653_abnormal_ependyma_morphology1.26491149
63MP0002971_abnormal_brown_adipose1.26311809
64MP0004142_abnormal_muscle_tone1.25858349
65MP0004185_abnormal_adipocyte_glucose1.25531229
66MP0003011_delayed_dark_adaptation1.25202924
67MP0008057_abnormal_DNA_replication1.23620785
68MP0002009_preneoplasia1.22773762
69MP0002638_abnormal_pupillary_reflex1.22097178
70MP0005386_behavior/neurological_phenoty1.20886437
71MP0004924_abnormal_behavior1.20886437
72MP0001293_anophthalmia1.20083355
73MP0003567_abnormal_fetal_cardiomyocyte1.18356897
74MP0001486_abnormal_startle_reflex1.18030459
75MP0009745_abnormal_behavioral_response1.17601780
76MP0008058_abnormal_DNA_repair1.16207352
77MP0004133_heterotaxia1.14170320
78MP0004885_abnormal_endolymph1.13120418
79MP0009697_abnormal_copulation1.12931399
80MP0002160_abnormal_reproductive_system1.10655660
81MP0005647_abnormal_sex_gland1.10367150
82MP0004043_abnormal_pH_regulation1.10332712
83MP0000778_abnormal_nervous_system1.05325893
84MP0000372_irregular_coat_pigmentation1.02049272
85MP0003656_abnormal_erythrocyte_physiolo1.01038600
86MP0008872_abnormal_physiological_respon1.00874202
87MP0010678_abnormal_skin_adnexa1.00126579
88MP0005535_abnormal_body_temperature0.99479102
89MP0000604_amyloidosis0.98708573
90MP0000598_abnormal_liver_morphology0.98599290
91MP0000647_abnormal_sebaceous_gland0.98371184
92MP0005645_abnormal_hypothalamus_physiol0.98102008
93MP0004085_abnormal_heartbeat0.97549233
94MP0003119_abnormal_digestive_system0.97044012
95MP0005389_reproductive_system_phenotype0.96152765
96MP0005408_hypopigmentation0.95440508
97MP0002557_abnormal_social/conspecific_i0.95408957
98MP0005636_abnormal_mineral_homeostasis0.95407605
99MP0003705_abnormal_hypodermis_morpholog0.94530846
100MP0005375_adipose_tissue_phenotype0.91699639
101MP0003137_abnormal_impulse_conducting0.91279281
102MP0002572_abnormal_emotion/affect_behav0.91077056
103MP0009763_increased_sensitivity_to0.90744591
104MP0002067_abnormal_sensory_capabilities0.90634927
105MP0002078_abnormal_glucose_homeostasis0.90158309
106MP0005334_abnormal_fat_pad0.89958862
107MP0002254_reproductive_system_inflammat0.89859773
108MP0000920_abnormal_myelination0.89338805
109MP0005330_cardiomyopathy0.88437157
110MP0001919_abnormal_reproductive_system0.87772057
111MP0002233_abnormal_nose_morphology0.86513470
112MP0001501_abnormal_sleep_pattern0.86228307
113MP0005195_abnormal_posterior_eye0.85048228
114MP0003329_amyloid_beta_deposits0.83749768
115MP0000955_abnormal_spinal_cord0.82450181
116MP0002752_abnormal_somatic_nervous0.81700272
117MP0003635_abnormal_synaptic_transmissio0.80982604
118MP0004270_analgesia0.80914463
119MP0000538_abnormal_urinary_bladder0.80650610
120MP0005376_homeostasis/metabolism_phenot0.79429729
121MP0000749_muscle_degeneration0.79297061
122MP0002064_seizures0.79181454
123MP0005084_abnormal_gallbladder_morpholo0.79012834
124MP0001756_abnormal_urination0.79008380
125MP0005266_abnormal_metabolism0.78003079
126MP0002063_abnormal_learning/memory/cond0.77666997
127MP0002090_abnormal_vision0.77081237
128* MP0009642_abnormal_blood_homeostasis0.76723592
129MP0006035_abnormal_mitochondrial_morpho0.76592068
130MP0005220_abnormal_exocrine_pancreas0.75342696
131MP0005367_renal/urinary_system_phenotyp0.75218931
132MP0000516_abnormal_urinary_system0.75218931
133MP0001324_abnormal_eye_pigmentation0.75067065
134MP0003698_abnormal_male_reproductive0.74603314
135MP0003755_abnormal_palate_morphology0.74329836
136MP0003646_muscle_fatigue0.74269960
137MP0002734_abnormal_mechanical_nocicepti0.74016385
138MP0003121_genomic_imprinting0.73218551
139MP0009765_abnormal_xenobiotic_induced0.71953046
140MP0010368_abnormal_lymphatic_system0.71041969
141MP0008469_abnormal_protein_level0.65967187
142MP0009764_decreased_sensitivity_to0.65903036
143MP0004036_abnormal_muscle_relaxation0.65569681
144MP0002876_abnormal_thyroid_physiology0.63222628
145MP0005448_abnormal_energy_balance0.60926736
146MP0009384_cardiac_valve_regurgitation0.58080146
147MP0002136_abnormal_kidney_physiology0.57917358
148MP0004381_abnormal_hair_follicle0.57892959
149MP0003221_abnormal_cardiomyocyte_apopto0.56372832
150MP0003718_maternal_effect0.56255692
151MP0000230_abnormal_systemic_arterial0.55904189
152MP0005395_other_phenotype0.55459849
153MP0003950_abnormal_plasma_membrane0.55447670
154MP0002269_muscular_atrophy0.55042799
155MP0006138_congestive_heart_failure0.52538973
156MP0005058_abnormal_lysosome_morphology0.51943133
157MP0000747_muscle_weakness0.51871234
158MP0009115_abnormal_fat_cell0.51723397
159MP0002796_impaired_skin_barrier0.48998176
160MP0008775_abnormal_heart_ventricle0.48947646
161MP0003959_abnormal_lean_body0.48738019
162MP0002970_abnormal_white_adipose0.45605229
163MP0002332_abnormal_exercise_endurance0.45077950
164MP0001544_abnormal_cardiovascular_syste0.44932420
165MP0005385_cardiovascular_system_phenoty0.44932420
166MP0001765_abnormal_ion_homeostasis0.44011057
167MP0003953_abnormal_hormone_level0.43348599
168MP0002295_abnormal_pulmonary_circulatio0.41346740
169MP0005165_increased_susceptibility_to0.40614134
170MP0004087_abnormal_muscle_fiber0.40388221
171MP0008438_abnormal_cutaneous_collagen0.40259857
172MP0000639_abnormal_adrenal_gland0.40076830
173MP0003638_abnormal_response/metabolism_0.40032555
174MP0004084_abnormal_cardiac_muscle0.39229049
175MP0005620_abnormal_muscle_contractility0.38542740
176MP0000579_abnormal_nail_morphology0.38493433
177MP0002168_other_aberrant_phenotype0.38236182

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)6.35950391
2Intrahepatic cholestasis (HP:0001406)6.21644402
3Deep venous thrombosis (HP:0002625)5.89368112
4Xanthomatosis (HP:0000991)5.50661857
5Prolonged partial thromboplastin time (HP:0003645)5.24180715
6Hyperglycinuria (HP:0003108)5.19516803
7Abnormality of monocarboxylic acid metabolism (HP:0010996)5.16633991
8Abnormality of glycine metabolism (HP:0010895)5.15348905
9Abnormality of serine family amino acid metabolism (HP:0010894)5.15348905
10Hyperglycinemia (HP:0002154)5.05193853
11Hyperlipoproteinemia (HP:0010980)5.03764596
12Hypobetalipoproteinemia (HP:0003563)4.92337993
13Hyperammonemia (HP:0001987)4.79588206
14* Ketosis (HP:0001946)4.49540436
15Hypoglycemic coma (HP:0001325)4.39659440
16Complement deficiency (HP:0004431)4.26719293
17Abnormality of fatty-acid metabolism (HP:0004359)4.15160360
18Abnormality of aspartate family amino acid metabolism (HP:0010899)4.08256016
19Hypolipoproteinemia (HP:0010981)4.06304420
20Epidermoid cyst (HP:0200040)4.03320031
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.91798457
22Pancreatic cysts (HP:0001737)3.88456161
23Abnormality of glutamine family amino acid metabolism (HP:0010902)3.87074056
24Hypoalphalipoproteinemia (HP:0003233)3.84224862
25Abnormality of methionine metabolism (HP:0010901)3.77333659
26Abnormality of sulfur amino acid metabolism (HP:0004339)3.76521620
27Ketoacidosis (HP:0001993)3.71781442
28Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.66890012
29Joint hemorrhage (HP:0005261)3.64961021
30Fat malabsorption (HP:0002630)3.60463062
31Abnormality of dicarboxylic acid metabolism (HP:0010995)3.57308921
32Dicarboxylic aciduria (HP:0003215)3.57308921
33Abnormality of serum amino acid levels (HP:0003112)3.54548944
34Abnormality of the common coagulation pathway (HP:0010990)3.44515333
35Pancreatic fibrosis (HP:0100732)3.43063059
36Molar tooth sign on MRI (HP:0002419)3.35139899
37Abnormality of midbrain morphology (HP:0002418)3.35139899
38True hermaphroditism (HP:0010459)3.27980360
39Abnormality of the renal cortex (HP:0011035)3.23890828
40Delayed CNS myelination (HP:0002188)3.18913448
41Medial flaring of the eyebrow (HP:0010747)3.16914038
42* Lethargy (HP:0001254)3.11662602
43* Cerebral edema (HP:0002181)3.07282254
44Hyperventilation (HP:0002883)3.06144765
45Metabolic acidosis (HP:0001942)3.03792569
46Nephronophthisis (HP:0000090)3.02494138
47Conjugated hyperbilirubinemia (HP:0002908)2.98595460
48Abnormality of the intrinsic pathway (HP:0010989)2.96242453
49Steatorrhea (HP:0002570)2.90906229
50Abnormality of purine metabolism (HP:0004352)2.90236177
51Hypercholesterolemia (HP:0003124)2.89221028
52Gout (HP:0001997)2.88092534
53Abnormality of complement system (HP:0005339)2.86296896
54Abnormality of alanine metabolism (HP:0010916)2.81928298
55Hyperalaninemia (HP:0003348)2.81928298
56Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.81928298
57Generalized aminoaciduria (HP:0002909)2.81815834
58Abnormality of nucleobase metabolism (HP:0010932)2.79155441
59Abnormality of the renal medulla (HP:0100957)2.76724544
60Vascular calcification (HP:0004934)2.75088728
61Calf muscle hypertrophy (HP:0008981)2.72244122
62Gait imbalance (HP:0002141)2.72111724
63Congenital primary aphakia (HP:0007707)2.67181210
64Gaze-evoked nystagmus (HP:0000640)2.65400784
65Myocardial infarction (HP:0001658)2.64916892
66Type II lissencephaly (HP:0007260)2.64338507
67Chronic hepatic failure (HP:0100626)2.64082558
68Hyperbilirubinemia (HP:0002904)2.61763366
69Abnormality of pyrimidine metabolism (HP:0004353)2.56993971
70Skin nodule (HP:0200036)2.56495462
71Abnormality of the labia minora (HP:0012880)2.56491153
72Nephrogenic diabetes insipidus (HP:0009806)2.55597543
73Tubular atrophy (HP:0000092)2.52120806
74Genital tract atresia (HP:0001827)2.49826221
75* Vomiting (HP:0002013)2.47375065
76Proximal tubulopathy (HP:0000114)2.46211449
77Vaginal atresia (HP:0000148)2.45451458
78Cardiovascular calcification (HP:0011915)2.45005323
79Muscle hypertrophy of the lower extremities (HP:0008968)2.44380927
80Congenital stationary night blindness (HP:0007642)2.40657880
81Hypoglycemic seizures (HP:0002173)2.40331058
82Renal cortical cysts (HP:0000803)2.38552608
83Poor coordination (HP:0002370)2.31622047
84Increased purine levels (HP:0004368)2.29283236
85Hyperuricemia (HP:0002149)2.29283236
86Acute encephalopathy (HP:0006846)2.27386592
87Increased serum pyruvate (HP:0003542)2.26386338
88Abnormality of glycolysis (HP:0004366)2.26386338
89Hepatocellular carcinoma (HP:0001402)2.26183532
90Hepatic necrosis (HP:0002605)2.25272526
91Broad-based gait (HP:0002136)2.24204962
92Irritability (HP:0000737)2.23570697
93Nausea (HP:0002018)2.22833932
94Glycosuria (HP:0003076)2.22829338
95Abnormality of urine glucose concentration (HP:0011016)2.22829338
96Hyperinsulinemic hypoglycemia (HP:0000825)2.22752439
97Abnormal gallbladder morphology (HP:0012437)2.20997182
98Methylmalonic aciduria (HP:0012120)2.18311176
99Myoglobinuria (HP:0002913)2.17573383
100Colon cancer (HP:0003003)2.16143408
101Cystic liver disease (HP:0006706)2.13300595
102Hydroxyprolinuria (HP:0003080)2.13207391
103Abnormality of proline metabolism (HP:0010907)2.13207391
104Brushfield spots (HP:0001088)2.12837746
105Cholelithiasis (HP:0001081)2.11967949
106Fair hair (HP:0002286)2.11153953
107Spastic diplegia (HP:0001264)2.10533873
108Enlarged kidneys (HP:0000105)2.09307779
109Abnormal biliary tract physiology (HP:0012439)2.09258033
110Bile duct proliferation (HP:0001408)2.09258033
111Aplasia/Hypoplasia of the tibia (HP:0005772)2.08312633
112Methylmalonic acidemia (HP:0002912)2.08087382
113Lissencephaly (HP:0001339)2.07783167
114Progressive inability to walk (HP:0002505)2.07538665
115Hypochromic microcytic anemia (HP:0004840)2.07045987
116Inability to walk (HP:0002540)2.07004293
117Opisthotonus (HP:0002179)2.06930011
118* Pancreatitis (HP:0001733)2.06742828
119Abnormality of vitamin metabolism (HP:0100508)2.04555071
120Abnormal drinking behavior (HP:0030082)2.03854400
121Polydipsia (HP:0001959)2.03854400
122Spontaneous abortion (HP:0005268)2.03339150
123Abolished electroretinogram (ERG) (HP:0000550)2.02293300
124Decreased circulating renin level (HP:0003351)1.99053164
125Genetic anticipation (HP:0003743)1.98752829
126Systemic lupus erythematosus (HP:0002725)1.97359522
127Abnormal cartilage morphology (HP:0002763)1.94163241
128Aplasia/Hypoplasia of the tongue (HP:0010295)1.93022929
129Alkalosis (HP:0001948)1.92091065
130Anencephaly (HP:0002323)1.92078818
131Cerebellar dysplasia (HP:0007033)1.91585253
132Hypophosphatemic rickets (HP:0004912)1.91114391
133Aplasia/Hypoplasia of the uvula (HP:0010293)1.90184500
134Hypomagnesemia (HP:0002917)1.89080635
135Intestinal atresia (HP:0011100)1.88602876
136Febrile seizures (HP:0002373)1.87891520
137Acute hepatic failure (HP:0006554)1.87720330
138Axonal loss (HP:0003447)1.87628781
139Hypothermia (HP:0002045)1.87410086
140Sensorimotor neuropathy (HP:0007141)1.86897484
141Hyperglycemia (HP:0003074)1.86495645
142Sclerocornea (HP:0000647)1.86424647
143Furrowed tongue (HP:0000221)1.85604811
144Amyloidosis (HP:0011034)1.85062749
145Rickets (HP:0002748)1.84779974
146Polyuria (HP:0000103)1.84195706
147Neonatal onset (HP:0003623)1.83565210
148Rhabdomyolysis (HP:0003201)1.83488109
149Acanthocytosis (HP:0001927)1.82936447
150Malnutrition (HP:0004395)1.82182380
151Left ventricular hypertrophy (HP:0001712)1.80644998
152Attenuation of retinal blood vessels (HP:0007843)1.80286073
153Esophageal varix (HP:0002040)1.79356747
154Increased muscle lipid content (HP:0009058)1.78723857
155Postaxial hand polydactyly (HP:0001162)1.77554673
156Spastic paraparesis (HP:0002313)1.76960160
157Protruding tongue (HP:0010808)1.75587467
158Pachygyria (HP:0001302)1.75457577
159Dandy-Walker malformation (HP:0001305)1.74664121
160Congenital hepatic fibrosis (HP:0002612)1.71505548
161Large for gestational age (HP:0001520)1.71415853
162Optic nerve hypoplasia (HP:0000609)1.70586260
163Postaxial foot polydactyly (HP:0001830)1.67896141
164Neoplasm of the adrenal cortex (HP:0100641)1.66866118
165Astigmatism (HP:0000483)1.66020096
166Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.65921156
167Male pseudohermaphroditism (HP:0000037)1.65823236
168Bifid tongue (HP:0010297)1.65685299
169Specific learning disability (HP:0001328)1.64971578
170Progressive cerebellar ataxia (HP:0002073)1.64577346
171Abnormality of chromosome stability (HP:0003220)1.64179369
172Bilateral microphthalmos (HP:0007633)1.64172930
173Broad foot (HP:0001769)1.64096755
174Abnormality of the ileum (HP:0001549)1.61227276
175Meckel diverticulum (HP:0002245)1.59447343
176Abnormal pancreas size (HP:0012094)1.59222253
177Chorioretinal atrophy (HP:0000533)1.58807776
178Drooling (HP:0002307)1.58629501
179Hypoplasia of the pons (HP:0012110)1.58318122
180Homocystinuria (HP:0002156)1.57440778
181Abnormality of homocysteine metabolism (HP:0010919)1.57440778
182Bundle branch block (HP:0011710)1.57201955
183Sloping forehead (HP:0000340)1.56198278
184Abnormality of the calf musculature (HP:0001430)1.53735614
185Hypoplastic labia majora (HP:0000059)1.53189613
186Pheochromocytoma (HP:0002666)1.52755087
187Abnormality of vitamin B metabolism (HP:0004340)1.51888667
188Abnormality of the pons (HP:0007361)1.50386987
189Oculomotor apraxia (HP:0000657)1.50366157

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.75114712
2STK393.71233986
3SIK13.38501873
4INSRR2.72546036
5ACVR1B2.61979244
6FGFR42.60705214
7WNK42.60164583
8BMPR1B2.48930949
9CASK2.45783642
10OXSR12.44925878
11TNIK2.41407498
12ERBB42.23645851
13EPHB12.11371019
14ERN12.11013971
15PDK42.03886949
16PDK32.03886949
17FGFR21.90710743
18GRK11.87363873
19NUAK11.84703404
20MET1.84513277
21MAPK131.83346283
22MKNK21.78217936
23MAP4K21.74172092
24LATS11.70359907
25MST1R1.69409518
26ZAK1.68667059
27PBK1.67847975
28PKN11.65295469
29MAP3K41.61270991
30PINK11.61194563
31CAMK1D1.60474340
32ADRBK21.59893281
33PHKG21.49309465
34PHKG11.49309465
35PDK21.49159736
36TAOK31.47716512
37BRSK21.43830162
38PRKAA21.41264508
39PIK3CG1.40156479
40MARK11.36187573
41EIF2AK31.30273131
42TAF11.29921186
43PLK21.28675803
44STK38L1.27865004
45TRIB31.27255861
46PIK3CA1.25853211
47ERBB31.25244607
48CAMK1G1.23458886
49TRIM281.22831737
50OBSCN1.20729109
51MKNK11.18942433
52LMTK21.18013056
53WEE11.16711095
54MAP2K41.16340683
55ABL21.15035084
56NTRK31.08292825
57PKN21.07942996
58CAMKK21.04505534
59PLK31.02914492
60DYRK21.02179236
61PRKCE1.00500069
62MAPK110.96785121
63FRK0.96034284
64TIE10.93813898
65CAMK2G0.93710513
66FER0.93295301
67MAPKAPK30.91144369
68SGK20.90653771
69CSNK1G10.89475918
70MAP2K70.88735186
71IRAK20.88168731
72MAPK120.87377959
73MUSK0.86387558
74MAP3K70.85853744
75MST40.84921665
76IRAK30.84420170
77ICK0.84146511
78TGFBR10.83444532
79TTN0.83342680
80GSK3A0.82672937
81WNK10.81029590
82FLT30.80889467
83PDPK10.79603809
84PRKCG0.79003698
85PTK60.76822865
86PAK30.76744594
87PRKCQ0.74254284
88PRKAA10.72890866
89PRKD10.72533141
90SRPK10.72519291
91WNK30.71497917
92BRD40.69635186
93NLK0.69180102
94CSNK1G30.68366874
95NEK90.67842791
96TTK0.66104710
97PLK40.65602204
98CSK0.65469029
99PRKACG0.65377715
100SGK2230.64349542
101SGK4940.64349542
102CAMK2D0.62126824
103DAPK20.61759994
104CAMK10.61698805
105NEK10.60935482
106CSNK1A1L0.58805052
107BCR0.57625067
108JAK20.56466317
109CDC70.56209528
110CAMK2A0.54969838
111ADRBK10.54743389
112DMPK0.54467750
113MAPKAPK50.53001918
114PLK10.52367658
115IRAK10.52325300
116MAPK40.51799582
117CSNK1A10.50780898
118GRK70.48906310
119CHEK20.48874851
120TSSK60.48612854
121ATM0.47966346
122AKT30.47540895
123VRK10.47387454
124EIF2AK20.46918482
125CAMK40.44888626
126NEK20.44879847
127MAP2K20.44568095
128PRKACB0.44498901
129RPS6KB20.43592945
130CSNK1G20.43375984
131EEF2K0.41709236
132ERBB20.41584277
133KDR0.41574067
134SGK10.41061295
135PRKCZ0.40980173
136STK30.40469504
137MYLK0.40279117
138STK110.40035817
139MAPK150.39056012
140MAP2K30.38993124
141CAMK2B0.38727149
142PDK10.37317999
143DYRK30.37316475
144IGF1R0.36691018
145PRKACA0.36042166
146STK40.36013860
147MTOR0.34573535
148MAPK70.34161931
149LATS20.32639840
150MAP2K10.32306842
151PDGFRB0.31134900
152FGR0.31061027
153EPHA40.30572523
154TYRO30.30323333
155PNCK0.29049574
156JAK10.28409591
157TYK20.27277580
158CSNK1D0.24901685
159CSNK1E0.24737135
160EPHA30.23617960
161INSR0.23184833

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.59774434
2Nitrogen metabolism_Homo sapiens_hsa009103.51417787
3* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.96156599
4Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.84686302
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.83412954
6* Propanoate metabolism_Homo sapiens_hsa006402.77298055
7Fatty acid degradation_Homo sapiens_hsa000712.76055732
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.73883909
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.72640157
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.65778749
11Arginine biosynthesis_Homo sapiens_hsa002202.61569433
12Tryptophan metabolism_Homo sapiens_hsa003802.49734223
13Butanoate metabolism_Homo sapiens_hsa006502.45921887
14Fatty acid metabolism_Homo sapiens_hsa012122.25132803
15Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.14080097
16Peroxisome_Homo sapiens_hsa041462.13317186
172-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.09668349
18Fatty acid elongation_Homo sapiens_hsa000622.08073805
19Complement and coagulation cascades_Homo sapiens_hsa046102.07925836
20PPAR signaling pathway_Homo sapiens_hsa033201.99506635
21Pentose and glucuronate interconversions_Homo sapiens_hsa000401.97021254
22Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.89554135
23beta-Alanine metabolism_Homo sapiens_hsa004101.84034165
24Histidine metabolism_Homo sapiens_hsa003401.83905548
25Pyruvate metabolism_Homo sapiens_hsa006201.69468538
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65755333
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.65349568
28Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.64614202
29Chemical carcinogenesis_Homo sapiens_hsa052041.61420748
30Sulfur metabolism_Homo sapiens_hsa009201.57810098
31Steroid hormone biosynthesis_Homo sapiens_hsa001401.57325585
32Steroid biosynthesis_Homo sapiens_hsa001001.54060989
33Phototransduction_Homo sapiens_hsa047441.53990617
34Basal transcription factors_Homo sapiens_hsa030221.53534029
35Carbon metabolism_Homo sapiens_hsa012001.47316336
36Nicotine addiction_Homo sapiens_hsa050331.46713502
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45711680
38Retinol metabolism_Homo sapiens_hsa008301.41659224
39Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.40740837
40Phenylalanine metabolism_Homo sapiens_hsa003601.37547685
41Vitamin B6 metabolism_Homo sapiens_hsa007501.36661613
42Folate biosynthesis_Homo sapiens_hsa007901.33688708
43Caffeine metabolism_Homo sapiens_hsa002321.32724932
44Homologous recombination_Homo sapiens_hsa034401.32070326
45Selenocompound metabolism_Homo sapiens_hsa004501.30473911
46Drug metabolism - other enzymes_Homo sapiens_hsa009831.28105609
47Tyrosine metabolism_Homo sapiens_hsa003501.27580691
48Biosynthesis of amino acids_Homo sapiens_hsa012301.25471994
49Fat digestion and absorption_Homo sapiens_hsa049751.23581407
50Staphylococcus aureus infection_Homo sapiens_hsa051501.22154048
51Starch and sucrose metabolism_Homo sapiens_hsa005001.21766966
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.20922653
53Arginine and proline metabolism_Homo sapiens_hsa003301.20738634
54Cysteine and methionine metabolism_Homo sapiens_hsa002701.20736769
55Fanconi anemia pathway_Homo sapiens_hsa034601.20687347
56Bile secretion_Homo sapiens_hsa049761.18311811
57Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.11330487
58Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.06938221
59Non-homologous end-joining_Homo sapiens_hsa034501.01845692
60RNA degradation_Homo sapiens_hsa030181.01812629
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01782818
62Taste transduction_Homo sapiens_hsa047420.99880019
63Sulfur relay system_Homo sapiens_hsa041220.97880110
64Glycerolipid metabolism_Homo sapiens_hsa005610.96353615
65Circadian rhythm_Homo sapiens_hsa047100.95925761
66Cyanoamino acid metabolism_Homo sapiens_hsa004600.95217726
67ABC transporters_Homo sapiens_hsa020100.94326897
68Fatty acid biosynthesis_Homo sapiens_hsa000610.94279120
69RNA polymerase_Homo sapiens_hsa030200.92900832
70Vitamin digestion and absorption_Homo sapiens_hsa049770.91730002
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.91669776
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87541395
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85463412
74Glutathione metabolism_Homo sapiens_hsa004800.83965045
75Glutamatergic synapse_Homo sapiens_hsa047240.83838475
76Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.82598154
77Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81370952
78Serotonergic synapse_Homo sapiens_hsa047260.80188515
79Lysine degradation_Homo sapiens_hsa003100.79782291
80Morphine addiction_Homo sapiens_hsa050320.78233971
81Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.76750942
82GABAergic synapse_Homo sapiens_hsa047270.71592407
83Olfactory transduction_Homo sapiens_hsa047400.71139111
84Insulin secretion_Homo sapiens_hsa049110.70900930
85Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69658064
86Maturity onset diabetes of the young_Homo sapiens_hsa049500.68624570
87Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.66857477
88Circadian entrainment_Homo sapiens_hsa047130.66492996
89Pentose phosphate pathway_Homo sapiens_hsa000300.62110642
90Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.61032998
91* Metabolic pathways_Homo sapiens_hsa011000.58825755
92Nucleotide excision repair_Homo sapiens_hsa034200.58006715
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53768798
94Dopaminergic synapse_Homo sapiens_hsa047280.52839103
95Purine metabolism_Homo sapiens_hsa002300.48366069
96Calcium signaling pathway_Homo sapiens_hsa040200.48223413
97Amphetamine addiction_Homo sapiens_hsa050310.47136707
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.46842856
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.45158673
100Long-term depression_Homo sapiens_hsa047300.45052603
101Linoleic acid metabolism_Homo sapiens_hsa005910.43827126
102Hedgehog signaling pathway_Homo sapiens_hsa043400.43253535
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42851527
104Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.41532997
105Oxidative phosphorylation_Homo sapiens_hsa001900.40821971
106One carbon pool by folate_Homo sapiens_hsa006700.39187461
107Adipocytokine signaling pathway_Homo sapiens_hsa049200.33657320
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.29555570
109Parkinsons disease_Homo sapiens_hsa050120.27272019
110Insulin resistance_Homo sapiens_hsa049310.21948829
111Prion diseases_Homo sapiens_hsa050200.19928687
112Fructose and mannose metabolism_Homo sapiens_hsa000510.18430700
113Ether lipid metabolism_Homo sapiens_hsa005650.17891592
114AMPK signaling pathway_Homo sapiens_hsa041520.17596009
115Alzheimers disease_Homo sapiens_hsa050100.15593164
116Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.14610302
117Galactose metabolism_Homo sapiens_hsa000520.13452899
118Glucagon signaling pathway_Homo sapiens_hsa049220.07292863
119Arachidonic acid metabolism_Homo sapiens_hsa005900.06274102
120Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2145802
121Mineral absorption_Homo sapiens_hsa04978-0.1910209
122Lysosome_Homo sapiens_hsa04142-0.1869086
123Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.1326806
124Renin-angiotensin system_Homo sapiens_hsa04614-0.1098199
125Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563-0.1055023
126Insulin signaling pathway_Homo sapiens_hsa04910-0.1022910
127Protein export_Homo sapiens_hsa03060-0.0979935
128Pancreatic secretion_Homo sapiens_hsa04972-0.0953429
129Cardiac muscle contraction_Homo sapiens_hsa04260-0.0754877
130Huntingtons disease_Homo sapiens_hsa05016-0.0455720
131Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0230256
132Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.0168017
133Protein digestion and absorption_Homo sapiens_hsa04974-0.0135785
134Regulation of autophagy_Homo sapiens_hsa04140-0.0064614

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