BCKDHB

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 the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of neurotransmitter secretion (GO:0046929)8.42781700
2positive regulation of amino acid transport (GO:0051957)8.13597048
3positive regulation of catecholamine secretion (GO:0033605)8.10398368
4negative regulation of amino acid transport (GO:0051956)7.83228163
5L-phenylalanine catabolic process (GO:0006559)7.16430106
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.16430106
7L-phenylalanine metabolic process (GO:0006558)6.95140115
8erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.95140115
9serotonin receptor signaling pathway (GO:0007210)6.38427930
10negative regulation of neurotransmitter transport (GO:0051589)6.34260532
11aromatic amino acid family catabolic process (GO:0009074)6.21896131
12phospholipid scrambling (GO:0017121)6.21707457
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.94490714
14regulation of glutamate secretion (GO:0014048)5.91325674
15glyoxylate metabolic process (GO:0046487)5.67897549
16alpha-linolenic acid metabolic process (GO:0036109)5.52520830
17kynurenine metabolic process (GO:0070189)5.43402019
18indole-containing compound catabolic process (GO:0042436)5.40159279
19indolalkylamine catabolic process (GO:0046218)5.40159279
20tryptophan catabolic process (GO:0006569)5.40159279
21cysteine metabolic process (GO:0006534)5.38166098
22bile acid biosynthetic process (GO:0006699)5.35839737
23sulfur amino acid catabolic process (GO:0000098)5.35652577
24lysine catabolic process (GO:0006554)5.12571912
25lysine metabolic process (GO:0006553)5.12571912
26tryptophan metabolic process (GO:0006568)5.08286771
27urea cycle (GO:0000050)5.02774529
28urea metabolic process (GO:0019627)5.02774529
29serine family amino acid catabolic process (GO:0009071)5.02591125
30high-density lipoprotein particle remodeling (GO:0034375)4.99315169
31cullin deneddylation (GO:0010388)4.93997226
32negative regulation of fibrinolysis (GO:0051918)4.92780398
33regulation of triglyceride catabolic process (GO:0010896)4.82956864
34protein carboxylation (GO:0018214)4.82260399
35peptidyl-glutamic acid carboxylation (GO:0017187)4.82260399
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.80441499
37complement activation, alternative pathway (GO:0006957)4.77402535
38pharyngeal system development (GO:0060037)4.75545689
39amino-acid betaine metabolic process (GO:0006577)4.68890566
40regulation of protein activation cascade (GO:2000257)4.68779293
41nitrogen cycle metabolic process (GO:0071941)4.68476315
42regulation of fibrinolysis (GO:0051917)4.68435170
43alpha-amino acid catabolic process (GO:1901606)4.60274897
44homocysteine metabolic process (GO:0050667)4.57438338
45bile acid metabolic process (GO:0008206)4.57043069
46aromatic amino acid family metabolic process (GO:0009072)4.56040152
47acylglycerol homeostasis (GO:0055090)4.53764439
48triglyceride homeostasis (GO:0070328)4.53764439
49cellular ketone body metabolic process (GO:0046950)4.52965198
50glycine metabolic process (GO:0006544)4.48772628
51protein deneddylation (GO:0000338)4.43806824
52reverse cholesterol transport (GO:0043691)4.40364401
53regulation of dopamine secretion (GO:0014059)4.38487641
54regulation of complement activation (GO:0030449)4.37990735
55plasma lipoprotein particle remodeling (GO:0034369)4.33978093
56protein-lipid complex remodeling (GO:0034368)4.33978093
57macromolecular complex remodeling (GO:0034367)4.33978093
58plasma lipoprotein particle clearance (GO:0034381)4.33708077
59* cellular amino acid catabolic process (GO:0009063)4.32667503
60DNA replication checkpoint (GO:0000076)4.32213573
61tyrosine metabolic process (GO:0006570)4.29996646
62serine family amino acid metabolic process (GO:0009069)4.29948132
63regulation of cholesterol esterification (GO:0010872)4.25758822
64fatty acid beta-oxidation (GO:0006635)4.24061428
65acetyl-CoA metabolic process (GO:0006084)4.23621069
66serine family amino acid biosynthetic process (GO:0009070)4.22775133
67coenzyme catabolic process (GO:0009109)4.20917437
68short-chain fatty acid metabolic process (GO:0046459)4.19747120
69ethanol oxidation (GO:0006069)4.14525022
702-oxoglutarate metabolic process (GO:0006103)4.08645493
71negative regulation of sterol transport (GO:0032372)4.08161055
72negative regulation of cholesterol transport (GO:0032375)4.08161055
73fatty acid oxidation (GO:0019395)4.08021119
74aspartate family amino acid catabolic process (GO:0009068)4.05149296
75valine metabolic process (GO:0006573)4.01563896
76lipid oxidation (GO:0034440)4.00402484
77positive regulation of organic acid transport (GO:0032892)4.00217722
78cellular modified amino acid catabolic process (GO:0042219)3.98841274
79glutamate metabolic process (GO:0006536)3.98826725
80fatty acid catabolic process (GO:0009062)3.98293925
81* carboxylic acid catabolic process (GO:0046395)3.97394952
82* organic acid catabolic process (GO:0016054)3.97394952
83muscle cell fate commitment (GO:0042693)3.95087700
84regulation of amino acid transport (GO:0051955)3.94969573
85monocarboxylic acid catabolic process (GO:0072329)3.92082032
86ketone body metabolic process (GO:1902224)3.91258950
87phospholipid efflux (GO:0033700)3.90308546
88* branched-chain amino acid catabolic process (GO:0009083)3.85870168
89imidazole-containing compound metabolic process (GO:0052803)3.85335577
90cellular glucuronidation (GO:0052695)3.83442373
91phenylpropanoid metabolic process (GO:0009698)3.83410093
92mannose metabolic process (GO:0006013)3.78332796
93positive regulation of fatty acid beta-oxidation (GO:0032000)3.78057120
94indolalkylamine metabolic process (GO:0006586)3.76512352
95positive regulation of lipid catabolic process (GO:0050996)3.75586310
96cellular biogenic amine catabolic process (GO:0042402)3.73598128
97amine catabolic process (GO:0009310)3.73598128
98bile acid and bile salt transport (GO:0015721)3.70942478
99dicarboxylic acid biosynthetic process (GO:0043650)3.70826808
100carnitine metabolic process (GO:0009437)3.70406800
101intestinal epithelial cell development (GO:0060576)3.69933790
102aldehyde catabolic process (GO:0046185)3.69931590
103positive regulation of amine transport (GO:0051954)3.68417754
104benzene-containing compound metabolic process (GO:0042537)3.67886546
105biotin metabolic process (GO:0006768)3.65389062
106cholesterol efflux (GO:0033344)3.63127655
107negative regulation of activin receptor signaling pathway (GO:0032926)3.61133361
108negative regulation of lipase activity (GO:0060192)3.60353825
109negative regulation of fatty acid biosynthetic process (GO:0045717)3.59690898
110arginine metabolic process (GO:0006525)3.59166701
111uronic acid metabolic process (GO:0006063)3.55691555
112glucuronate metabolic process (GO:0019585)3.55691555
113base-excision repair, AP site formation (GO:0006285)3.54911062
114N-glycan processing (GO:0006491)3.53632739
115* branched-chain amino acid metabolic process (GO:0009081)3.53075086
116fatty acid transmembrane transport (GO:1902001)3.51290738
117positive regulation of lipoprotein lipase activity (GO:0051006)3.50501608
118positive regulation of triglyceride lipase activity (GO:0061365)3.50501608
119phospholipid homeostasis (GO:0055091)3.48347346
120L-serine metabolic process (GO:0006563)3.47987253
121cholesterol homeostasis (GO:0042632)3.46917781
122plasma lipoprotein particle assembly (GO:0034377)3.45012978
123low-density lipoprotein particle remodeling (GO:0034374)3.43780928
124cofactor catabolic process (GO:0051187)3.43242880
125regulation of cholesterol metabolic process (GO:0090181)3.42538226
126regulation of cardioblast proliferation (GO:0003264)3.32753627
127regulation of secondary heart field cardioblast proliferation (GO:0003266)3.32753627
128pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.28012355
129water-soluble vitamin biosynthetic process (GO:0042364)3.16995637
130negative regulation of organic acid transport (GO:0032891)3.15650389
131negative regulation of amine transport (GO:0051953)3.12717453
132outer ear morphogenesis (GO:0042473)3.09831785
133S-adenosylmethionine metabolic process (GO:0046500)3.03983470
134regulation of membrane lipid distribution (GO:0097035)3.03133485
135exogenous drug catabolic process (GO:0042738)3.03096664
136proteasome assembly (GO:0043248)2.99888893
137somite development (GO:0061053)2.97914406
138urogenital system development (GO:0001655)2.89124702
139drug catabolic process (GO:0042737)2.85920243
140negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.84841882
141ribosome assembly (GO:0042255)2.84796835
142epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.83589720
143otic vesicle formation (GO:0030916)2.83365553
144protein complex biogenesis (GO:0070271)2.81347285
145flavonoid metabolic process (GO:0009812)2.79452636
146positive regulation of histone H3-K4 methylation (GO:0051571)2.76590823
147L-methionine salvage (GO:0071267)2.74026840
148L-methionine biosynthetic process (GO:0071265)2.74026840
149amino acid salvage (GO:0043102)2.74026840
150mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.73448264
151mitochondrial respiratory chain complex I assembly (GO:0032981)2.73448264
152NADH dehydrogenase complex assembly (GO:0010257)2.73448264
153DNA deamination (GO:0045006)2.71350881
154pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.70055606
155drug metabolic process (GO:0017144)2.69689955
156protein K11-linked ubiquitination (GO:0070979)2.69074948
157pyrimidine nucleotide catabolic process (GO:0006244)2.65044988
158mitochondrial respiratory chain complex assembly (GO:0033108)2.58249007
159somatic diversification of immune receptors via somatic mutation (GO:0002566)2.54106796
160somatic hypermutation of immunoglobulin genes (GO:0016446)2.54106796
161cytidine deamination (GO:0009972)2.54042197
162cytidine metabolic process (GO:0046087)2.54042197
163cytidine catabolic process (GO:0006216)2.54042197
164epithelial cilium movement (GO:0003351)2.52795114
165aggressive behavior (GO:0002118)2.52773964
166formation of translation preinitiation complex (GO:0001731)2.51972751
167behavioral response to nicotine (GO:0035095)2.50151622
168detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.49322001
169negative regulation of protein tyrosine kinase activity (GO:0061099)2.44219432
170regulation of action potential (GO:0098900)2.42231990
171thalamus development (GO:0021794)2.40973148
172L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.40220918
173preassembly of GPI anchor in ER membrane (GO:0016254)2.39942084
174establishment of protein localization to mitochondrial membrane (GO:0090151)2.39536038
175atrial septum morphogenesis (GO:0060413)2.39023239
176chaperone-mediated protein transport (GO:0072321)2.37028482
177meiotic chromosome segregation (GO:0045132)2.34460374
178cellular response to sterol (GO:0036315)2.33807535
179regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.32460508
180oxidative demethylation (GO:0070989)2.32082479
181early endosome to late endosome transport (GO:0045022)2.31895859
182epithelial cell fate commitment (GO:0072148)2.31120118
183intraciliary transport (GO:0042073)2.29893555

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.93645640
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.24778080
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.87275323
4EGR1_23403033_ChIP-Seq_LIVER_Mouse6.11020076
5LXR_22158963_ChIP-Seq_LIVER_Mouse6.08518752
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.98971684
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.86286511
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.81177426
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.69230762
10IGF1R_20145208_ChIP-Seq_DFB_Human3.59515481
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.36288380
12GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.30807271
13VDR_22108803_ChIP-Seq_LS180_Human2.86835965
14ZNF274_21170338_ChIP-Seq_K562_Hela2.77229507
15FUS_26573619_Chip-Seq_HEK293_Human2.76169697
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.71198194
17EWS_26573619_Chip-Seq_HEK293_Human2.70277999
18FLI1_27457419_Chip-Seq_LIVER_Mouse2.66315852
19GBX2_23144817_ChIP-Seq_PC3_Human2.64649332
20CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.43008531
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.34547917
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30056648
23HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.18469894
24* P300_19829295_ChIP-Seq_ESCs_Human2.17462096
25CLOCK_20551151_ChIP-Seq_293T_Human2.15491026
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.14268142
27PCGF2_27294783_Chip-Seq_ESCs_Mouse2.08761566
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.04182476
29POU5F1_16153702_ChIP-ChIP_HESCs_Human2.02284120
30TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.01185282
31ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3847851
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.97181085
33TAF15_26573619_Chip-Seq_HEK293_Human1.96763528
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.93375448
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.82685069
36GABP_17652178_ChIP-ChIP_JURKAT_Human1.75919431
37ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73816926
38KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.71278277
39ELK1_19687146_ChIP-ChIP_HELA_Human1.70034248
40UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62938051
41RNF2_27304074_Chip-Seq_NSC_Mouse1.62930840
42E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62920917
43PCGF2_27294783_Chip-Seq_NPCs_Mouse1.60286681
44ER_23166858_ChIP-Seq_MCF-7_Human1.59474080
45ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.58492772
46CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58364510
47AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.57678625
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.55710008
49GATA1_22025678_ChIP-Seq_K562_Human1.54905086
50EZH2_22144423_ChIP-Seq_EOC_Human1.54875342
51* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54779646
52SUZ12_27294783_Chip-Seq_NPCs_Mouse1.53399301
53MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.52988608
54* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.52608523
55EZH2_27294783_Chip-Seq_NPCs_Mouse1.52395360
56* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.49128099
57* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49011751
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45911257
59BCAT_22108803_ChIP-Seq_LS180_Human1.44629558
60NFE2_27457419_Chip-Seq_LIVER_Mouse1.44441460
61MYC_18940864_ChIP-ChIP_HL60_Human1.44181210
62EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.42720139
63IRF1_19129219_ChIP-ChIP_H3396_Human1.41885202
64FOXA2_19822575_ChIP-Seq_HepG2_Human1.41714784
65* TP53_22573176_ChIP-Seq_HFKS_Human1.41538468
66CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.40776366
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.39782670
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.38911787
69NANOG_19829295_ChIP-Seq_ESCs_Human1.36901582
70SOX2_19829295_ChIP-Seq_ESCs_Human1.36901582
71TAL1_26923725_Chip-Seq_HPCs_Mouse1.35998334
72NR3C1_21868756_ChIP-Seq_MCF10A_Human1.35383320
73TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.33697662
74* SMAD4_21799915_ChIP-Seq_A2780_Human1.33443971
75HNF4A_19822575_ChIP-Seq_HepG2_Human1.31781193
76RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.31541844
77ZNF263_19887448_ChIP-Seq_K562_Human1.29873861
78NANOG_18555785_Chip-Seq_ESCs_Mouse1.29847966
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29326167
80SMAD3_21741376_ChIP-Seq_EPCs_Human1.28586020
81PIAS1_25552417_ChIP-Seq_VCAP_Human1.26846003
82* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25890502
83STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.25771175
84P53_22387025_ChIP-Seq_ESCs_Mouse1.25706147
85FOXA1_21572438_ChIP-Seq_LNCaP_Human1.25267201
86HTT_18923047_ChIP-ChIP_STHdh_Human1.24565851
87IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.24316181
88CBP_20019798_ChIP-Seq_JUKART_Human1.24316181
89ESR1_15608294_ChIP-ChIP_MCF-7_Human1.23490998
90AR_25329375_ChIP-Seq_VCAP_Human1.22256734
91STAT3_23295773_ChIP-Seq_U87_Human1.22047539
92STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.21024690
93SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18289256
94TCF4_22108803_ChIP-Seq_LS180_Human1.18149975
95RUNX2_22187159_ChIP-Seq_PCA_Human1.17738200
96SOX2_16153702_ChIP-ChIP_HESCs_Human1.16970842
97NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.16061064
98NOTCH1_21737748_ChIP-Seq_TLL_Human1.15796654
99RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15494227
100KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12678102
101STAT3_18555785_Chip-Seq_ESCs_Mouse1.10880090
102STAT3_1855785_ChIP-Seq_MESCs_Mouse1.10099994
103RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10039554
104FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09929921
105FOXA1_25329375_ChIP-Seq_VCAP_Human1.09929921
106CRX_20693478_ChIP-Seq_RETINA_Mouse1.09650857
107RARG_19884340_ChIP-ChIP_MEFs_Mouse1.09145032
108E2F1_18555785_Chip-Seq_ESCs_Mouse1.08656588
109CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.08262366
110FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.08218955
111EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07856510
112EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.07423546
113EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06070599
114PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.06034224
115P300_18555785_Chip-Seq_ESCs_Mouse1.05002075
116OCT4_18555785_Chip-Seq_ESCs_Mouse1.04763372
117TCF4_23295773_ChIP-Seq_U87_Human1.04346892
118* VDR_23849224_ChIP-Seq_CD4+_Human1.03906861
119PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03679399
120SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.03059172
121SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.02597824
122SUZ12_18555785_Chip-Seq_ESCs_Mouse1.01252598
123CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.00160874
124FOXP3_21729870_ChIP-Seq_TREG_Human0.99980056
125PRDM14_20953172_ChIP-Seq_ESCs_Human0.99440999
126THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98700449
127ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.97489528
128ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92757062
129POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.91155557
130* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.91076329
131AUTS2_25519132_ChIP-Seq_293T-REX_Human0.86992491
132PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.83419059
133PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.82575372
134SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80166789
135NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.74125112
136RARA_24833708_ChIP-Seq_LIVER_Mouse0.74094519
137GATA4_25053715_ChIP-Seq_YYC3_Human0.73320810
138ESR2_21235772_ChIP-Seq_MCF-7_Human0.71215226
139CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.70594706
140SALL4_18804426_ChIP-ChIP_XEN_Mouse0.70434438
141RARB_24833708_ChIP-Seq_LIVER_Mouse0.65010675
142TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.64798242
143AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.64180088
144CEBPB_22108803_ChIP-Seq_LS180_Human0.62285107
145RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62259982
146* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.61985372
147KAP1_22055183_ChIP-Seq_ESCs_Mouse0.61121767
148EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.59545457
149SOX2_18692474_ChIP-Seq_MEFs_Mouse0.58827659
150BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.58320766
151BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.57796548
152AR_20517297_ChIP-Seq_VCAP_Human0.55197387
153FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.55122696
154LXR_22292898_ChIP-Seq_THP-1_Human0.53705843
155GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.51792046
156TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.51051724
157OCT4_18692474_ChIP-Seq_MEFs_Mouse0.50850583
158ERG_20517297_ChIP-Seq_VCAP_Human0.50313622
159SRF_21415370_ChIP-Seq_HL-1_Mouse0.50027170
160ESET_19884257_ChIP-Seq_ESCs_Mouse0.49976915
161FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.49541441
162TCF3_18692474_ChIP-Seq_MEFs_Mouse0.48891735
163E2F1_18555785_ChIP-Seq_MESCs_Mouse0.47339094
164TET1_21451524_ChIP-Seq_MESCs_Mouse0.47121294
165BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.47041683
166ESR1_21235772_ChIP-Seq_MCF-7_Human0.46532360
167TBX20_22080862_ChIP-Seq_HEART_Mouse0.46307539
168TBX20_22328084_ChIP-Seq_HEART_Mouse0.46307539
169CBP_21632823_ChIP-Seq_H3396_Human0.45584993
170TAF2_19829295_ChIP-Seq_ESCs_Human0.45111436
171SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.45007814
172FOXA1_25552417_ChIP-Seq_VCAP_Human0.44452813
173NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.44401019
174NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.44344297
175NRF2_20460467_ChIP-Seq_MEFs_Mouse0.44344297
176SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.44268710
177PPAR_26484153_Chip-Seq_NCI-H1993_Human0.44244877
178STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.44220763
179SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.43678287
180P53_21459846_ChIP-Seq_SAOS-2_Human0.43486752
181ERG_21242973_ChIP-ChIP_JURKAT_Human0.43291420
182FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.42374240
183BCOR_27268052_Chip-Seq_Bcells_Human0.40789367
184PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.39466518
185NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.39305146
186MYC_19915707_ChIP-ChIP_AK7_Human0.38799255
187OCT4_20526341_ChIP-Seq_ESCs_Human0.38489947
188GATA3_24758297_ChIP-Seq_MCF-7_Human0.37710404
189GATA6_25053715_ChIP-Seq_YYC3_Human0.37104613
190RAC3_21632823_ChIP-Seq_H3396_Human0.36437131
191CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.36373411
192FOXO3_23340844_ChIP-Seq_DLD1_Human0.36146551
193ATF3_27146783_Chip-Seq_COLON_Human0.35962518
194CSB_26484114_Chip-Seq_FIBROBLAST_Human0.35630159

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.70147498
2MP0005360_urolithiasis6.90600177
3MP0005365_abnormal_bile_salt5.99098611
4MP0005085_abnormal_gallbladder_physiolo5.97691627
5MP0008875_abnormal_xenobiotic_pharmacok4.69009740
6MP0003806_abnormal_nucleotide_metabolis4.67714399
7MP0008961_abnormal_basal_metabolism4.56278374
8MP0002822_catalepsy4.35542258
9MP0002234_abnormal_pharynx_morphology3.89075186
10MP0010329_abnormal_lipoprotein_level3.58011082
11MP0003252_abnormal_bile_duct3.37640512
12MP0009840_abnormal_foam_cell3.07800471
13MP0005332_abnormal_amino_acid2.98758773
14MP0005083_abnormal_biliary_tract2.96197394
15MP0003195_calcinosis2.76938572
16MP0001666_abnormal_nutrient_absorption2.56945365
17MP0003191_abnormal_cellular_cholesterol2.31087118
18MP0001529_abnormal_vocalization2.29558920
19MP0002118_abnormal_lipid_homeostasis2.29427196
20MP0002102_abnormal_ear_morphology2.28914565
21MP0006292_abnormal_olfactory_placode2.25062545
22MP0005670_abnormal_white_adipose2.14994385
23MP0000609_abnormal_liver_physiology2.13577041
24MP0003136_yellow_coat_color1.96306821
25MP0004019_abnormal_vitamin_homeostasis1.94593075
26MP0008058_abnormal_DNA_repair1.94455254
27MP0005319_abnormal_enzyme/_coenzyme1.91311969
28MP0004215_abnormal_myocardial_fiber1.90843882
29MP0000049_abnormal_middle_ear1.81918648
30MP0002735_abnormal_chemical_nociception1.70020470
31MP0002396_abnormal_hematopoietic_system1.68587273
32MP0003868_abnormal_feces_composition1.67485674
33MP0003186_abnormal_redox_activity1.66871826
34MP0001764_abnormal_homeostasis1.65693342
35MP0005584_abnormal_enzyme/coenzyme_acti1.64804906
36MP0004130_abnormal_muscle_cell1.64765688
37MP0003937_abnormal_limbs/digits/tail_de1.60192769
38MP0008877_abnormal_DNA_methylation1.59637263
39MP0005551_abnormal_eye_electrophysiolog1.58841989
40MP0006036_abnormal_mitochondrial_physio1.58222440
41MP0002837_dystrophic_cardiac_calcinosis1.53776607
42MP0002938_white_spotting1.50320823
43MP0002138_abnormal_hepatobiliary_system1.45977785
44MP0009697_abnormal_copulation1.43010588
45MP0000372_irregular_coat_pigmentation1.42567168
46MP0003119_abnormal_digestive_system1.42459811
47MP0009643_abnormal_urine_homeostasis1.40449200
48MP0005666_abnormal_adipose_tissue1.40276981
49MP0005253_abnormal_eye_physiology1.36554774
50MP0006072_abnormal_retinal_apoptosis1.35102094
51MP0005645_abnormal_hypothalamus_physiol1.33353454
52MP0006054_spinal_hemorrhage1.31819920
53MP0005646_abnormal_pituitary_gland1.31700158
54MP0003122_maternal_imprinting1.31550312
55MP0003705_abnormal_hypodermis_morpholog1.31410430
56MP0005451_abnormal_body_composition1.30693688
57MP0004142_abnormal_muscle_tone1.30574301
58MP0000566_synostosis1.29866368
59MP0009745_abnormal_behavioral_response1.29710029
60MP0010094_abnormal_chromosome_stability1.29258870
61MP0001293_anophthalmia1.29156892
62MP0000613_abnormal_salivary_gland1.27281418
63MP0000631_abnormal_neuroendocrine_gland1.24894344
64MP0002233_abnormal_nose_morphology1.24150103
65MP0003283_abnormal_digestive_organ1.23566737
66MP0002971_abnormal_brown_adipose1.23288653
67MP0003011_delayed_dark_adaptation1.21775650
68MP0003880_abnormal_central_pattern1.19723714
69MP0004484_altered_response_of1.19180457
70MP0001984_abnormal_olfaction1.15167782
71MP0000598_abnormal_liver_morphology1.15146099
72MP0003656_abnormal_erythrocyte_physiolo1.14661143
73MP0003938_abnormal_ear_development1.14214943
74MP0005167_abnormal_blood-brain_barrier1.14088889
75MP0005647_abnormal_sex_gland1.10898105
76MP0001485_abnormal_pinna_reflex1.10090597
77MP0003121_genomic_imprinting1.09625528
78MP0002078_abnormal_glucose_homeostasis1.04282512
79MP0008995_early_reproductive_senescence1.02646893
80MP0010030_abnormal_orbit_morphology1.02360530
81MP0001661_extended_life_span1.00194257
82MP0005535_abnormal_body_temperature1.00086400
83MP0006035_abnormal_mitochondrial_morpho0.99944062
84MP0002638_abnormal_pupillary_reflex0.98404679
85MP0002249_abnormal_larynx_morphology0.98119028
86MP0003786_premature_aging0.97615201
87MP0005266_abnormal_metabolism0.97399478
88MP0001963_abnormal_hearing_physiology0.96815388
89MP0004185_abnormal_adipocyte_glucose0.96796063
90MP0002163_abnormal_gland_morphology0.96642483
91MP0000604_amyloidosis0.96239474
92MP0009763_increased_sensitivity_to0.95864840
93MP0005334_abnormal_fat_pad0.95317319
94MP0005379_endocrine/exocrine_gland_phen0.92960199
95MP0002876_abnormal_thyroid_physiology0.91905598
96MP0003646_muscle_fatigue0.91735276
97MP0002736_abnormal_nociception_after0.91572434
98MP0010368_abnormal_lymphatic_system0.91268059
99MP0005636_abnormal_mineral_homeostasis0.90906920
100MP0002282_abnormal_trachea_morphology0.89765623
101MP0008932_abnormal_embryonic_tissue0.88872302
102MP0001486_abnormal_startle_reflex0.88859703
103MP0006276_abnormal_autonomic_nervous0.88751833
104MP0005376_homeostasis/metabolism_phenot0.88131384
105MP0008789_abnormal_olfactory_epithelium0.87531336
106MP0003567_abnormal_fetal_cardiomyocyte0.86248627
107MP0005220_abnormal_exocrine_pancreas0.86061012
108MP0009642_abnormal_blood_homeostasis0.84701520
109MP0002254_reproductive_system_inflammat0.84102768
110MP0009250_abnormal_appendicular_skeleto0.83409614
111MP0005389_reproductive_system_phenotype0.82464894
112MP0004885_abnormal_endolymph0.81800376
113MP0002272_abnormal_nervous_system0.81229443
114MP0005084_abnormal_gallbladder_morpholo0.80231682
115MP0003137_abnormal_impulse_conducting0.79769941
116MP0005187_abnormal_penis_morphology0.79466257
117MP0002160_abnormal_reproductive_system0.79395945
118MP0001756_abnormal_urination0.78392244
119MP0000026_abnormal_inner_ear0.77902622
120MP0004924_abnormal_behavior0.77886058
121MP0005386_behavior/neurological_phenoty0.77886058
122MP0005448_abnormal_energy_balance0.77477189
123MP0004043_abnormal_pH_regulation0.76068231
124MP0003329_amyloid_beta_deposits0.75965581
125MP0005330_cardiomyopathy0.73624863
126MP0002557_abnormal_social/conspecific_i0.73504160
127MP0005375_adipose_tissue_phenotype0.73408556
128MP0004957_abnormal_blastocyst_morpholog0.73011219
129MP0009764_decreased_sensitivity_to0.72672364
130MP0003690_abnormal_glial_cell0.71744430
131MP0005195_abnormal_posterior_eye0.70585032
132MP0008469_abnormal_protein_level0.70318578
133MP0003755_abnormal_palate_morphology0.68981256
134MP0004133_heterotaxia0.68275923
135MP0001664_abnormal_digestion0.67792105
136MP0009765_abnormal_xenobiotic_induced0.67206197
137MP0001968_abnormal_touch/_nociception0.67173933
138MP0002751_abnormal_autonomic_nervous0.66841845
139MP0002970_abnormal_white_adipose0.65006228
140MP0009115_abnormal_fat_cell0.64952244
141MP0002269_muscular_atrophy0.63108411
142MP0005408_hypopigmentation0.62208945
143MP0003953_abnormal_hormone_level0.54567782
144MP0003221_abnormal_cardiomyocyte_apopto0.50804222
145MP0009672_abnormal_birth_weight0.49597964
146MP0003718_maternal_effect0.47492297
147MP0000230_abnormal_systemic_arterial0.47292873
148MP0005395_other_phenotype0.47188413
149MP0002332_abnormal_exercise_endurance0.46812800
150MP0003959_abnormal_lean_body0.46732204
151MP0002136_abnormal_kidney_physiology0.46389071
152MP0000639_abnormal_adrenal_gland0.45160967
153MP0009053_abnormal_anal_canal0.44823428
154MP0002796_impaired_skin_barrier0.43787874
155MP0004036_abnormal_muscle_relaxation0.41633280
156MP0005452_abnormal_adipose_tissue0.41570556
157MP0006138_congestive_heart_failure0.38900525
158MP0003638_abnormal_response/metabolism_0.38838373
159MP0001544_abnormal_cardiovascular_syste0.36404438
160MP0005385_cardiovascular_system_phenoty0.36404438
161MP0004147_increased_porphyrin_level0.35404650
162MP0008873_increased_physiological_sensi0.35167479
163MP0008872_abnormal_physiological_respon0.34689842
164MP0008874_decreased_physiological_sensi0.31838152
165MP0008775_abnormal_heart_ventricle0.29163939
166MP0004087_abnormal_muscle_fiber0.28856787
167MP0002168_other_aberrant_phenotype0.27890164
168MP0001944_abnormal_pancreas_morphology0.27316845
169MP0005248_abnormal_Harderian_gland0.26578758
170MP0002090_abnormal_vision0.26459633
171MP0000747_muscle_weakness0.26455497
172MP0005058_abnormal_lysosome_morphology0.26299227
173MP0004782_abnormal_surfactant_physiolog0.25792937

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)6.76923728
2Intrahepatic cholestasis (HP:0001406)6.33605813
3Deep venous thrombosis (HP:0002625)6.25740174
4Xanthomatosis (HP:0000991)5.74048244
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.62945905
6Hypobetalipoproteinemia (HP:0003563)5.53492757
7Prolonged partial thromboplastin time (HP:0003645)5.40276655
8Hyperlipoproteinemia (HP:0010980)5.33547968
9Hyperglycinemia (HP:0002154)5.04972677
10Hyperglycinuria (HP:0003108)5.02134227
11Hyperammonemia (HP:0001987)5.02064292
12Abnormality of serine family amino acid metabolism (HP:0010894)4.85750405
13Abnormality of glycine metabolism (HP:0010895)4.85750405
14Hypoglycemic coma (HP:0001325)4.77549286
15* Ketosis (HP:0001946)4.71490724
16Complement deficiency (HP:0004431)4.56720202
17Hypolipoproteinemia (HP:0010981)4.48352994
18Abnormality of fatty-acid metabolism (HP:0004359)4.29372539
19Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)4.28203678
20Short 1st metacarpal (HP:0010034)4.28203678
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.20753547
22Hypoalphalipoproteinemia (HP:0003233)4.18145096
23Abnormality of the renal collecting system (HP:0004742)4.11289870
24Ketoacidosis (HP:0001993)3.95928561
25Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.95118879
26Epidermoid cyst (HP:0200040)3.93682955
27Abnormality of aspartate family amino acid metabolism (HP:0010899)3.86340680
28Abnormality of sulfur amino acid metabolism (HP:0004339)3.84133401
29Abnormality of the 1st metacarpal (HP:0010009)3.83746469
30Abnormality of methionine metabolism (HP:0010901)3.83284752
31Lipid accumulation in hepatocytes (HP:0006561)3.81716244
32Increased hepatocellular lipid droplets (HP:0006565)3.80784109
33Abnormality of the common coagulation pathway (HP:0010990)3.77293807
34Abnormality of glutamine family amino acid metabolism (HP:0010902)3.74514616
35Joint hemorrhage (HP:0005261)3.72411701
36Fat malabsorption (HP:0002630)3.64229066
37Abnormality of dicarboxylic acid metabolism (HP:0010995)3.56032274
38Dicarboxylic aciduria (HP:0003215)3.56032274
39Abnormality of serum amino acid levels (HP:0003112)3.51692317
40Abnormality of the intrinsic pathway (HP:0010989)3.41317836
41Delayed CNS myelination (HP:0002188)3.26897617
42Stenosis of the external auditory canal (HP:0000402)3.26359756
43Absent rod-and cone-mediated responses on ERG (HP:0007688)3.24529172
44Hypercholesterolemia (HP:0003124)3.21845938
45Abnormality of complement system (HP:0005339)3.21308360
46Pancreatic fibrosis (HP:0100732)3.18757755
47Abnormality of pyrimidine metabolism (HP:0004353)3.16346804
48* Lethargy (HP:0001254)3.14722334
49* Cerebral edema (HP:0002181)3.05525815
50Metabolic acidosis (HP:0001942)3.05207532
51True hermaphroditism (HP:0010459)3.02953372
52Medial flaring of the eyebrow (HP:0010747)3.01780463
53Generalized aminoaciduria (HP:0002909)2.98063047
54Renal Fanconi syndrome (HP:0001994)2.95024971
55Pancreatic cysts (HP:0001737)2.94184519
56Hyperbilirubinemia (HP:0002904)2.92474766
57Vertebral hypoplasia (HP:0008417)2.92459331
58Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.92459331
59Abnormality of nucleobase metabolism (HP:0010932)2.90997481
60Short phalanx of the thumb (HP:0009660)2.86740023
61Steatorrhea (HP:0002570)2.86670433
62Gout (HP:0001997)2.78341115
63Abnormality of purine metabolism (HP:0004352)2.78322820
64Methylmalonic acidemia (HP:0002912)2.78251147
65Conjugated hyperbilirubinemia (HP:0002908)2.77833403
66Short hallux (HP:0010109)2.69466360
67Hypoglycemic seizures (HP:0002173)2.66790793
68Aplasia/Hypoplasia of the hallux (HP:0008362)2.65896693
69Mitochondrial inheritance (HP:0001427)2.65803239
70Skin nodule (HP:0200036)2.65079670
71Attenuation of retinal blood vessels (HP:0007843)2.64738470
72Hepatocellular carcinoma (HP:0001402)2.64028674
73Abnormal rod and cone electroretinograms (HP:0008323)2.56471311
74Molar tooth sign on MRI (HP:0002419)2.54349886
75Abnormality of midbrain morphology (HP:0002418)2.54349886
76Optic disc pallor (HP:0000543)2.53246567
77Myoglobinuria (HP:0002913)2.51592375
78Congenital stationary night blindness (HP:0007642)2.51176961
79* Vomiting (HP:0002013)2.47750438
80Large for gestational age (HP:0001520)2.46303539
81Increased intramyocellular lipid droplets (HP:0012240)2.45597241
82Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.43577179
83Myocardial infarction (HP:0001658)2.43036853
84Spontaneous abortion (HP:0005268)2.41610532
85Spastic diplegia (HP:0001264)2.39706901
86Hepatic necrosis (HP:0002605)2.38496801
87Hyperinsulinemic hypoglycemia (HP:0000825)2.36849518
88Irritability (HP:0000737)2.35293529
89Dynein arm defect of respiratory motile cilia (HP:0012255)2.34141607
90Absent/shortened dynein arms (HP:0200106)2.34141607
91Abnormal gallbladder morphology (HP:0012437)2.33446751
92Duplicated collecting system (HP:0000081)2.33184801
93Hepatocellular necrosis (HP:0001404)2.32310066
94Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.32226229
95Abnormality of alanine metabolism (HP:0010916)2.32226229
96Hyperalaninemia (HP:0003348)2.32226229
97Cholelithiasis (HP:0001081)2.30562331
98Brushfield spots (HP:0001088)2.29840362
99Proximal tubulopathy (HP:0000114)2.28750612
100Nausea (HP:0002018)2.28657446
101Hypochromic microcytic anemia (HP:0004840)2.25713783
102Increased CSF lactate (HP:0002490)2.24955718
103Neonatal onset (HP:0003623)2.23451320
104Acute encephalopathy (HP:0006846)2.23364066
105Nephronophthisis (HP:0000090)2.22857634
106Abnormality of cochlea (HP:0000375)2.20827884
107Hyperphosphaturia (HP:0003109)2.19783940
108Fused cervical vertebrae (HP:0002949)2.18890824
109Chorioretinal atrophy (HP:0000533)2.18702612
110* Pancreatitis (HP:0001733)2.18219044
111Abnormality of the labia minora (HP:0012880)2.17832398
112Congenital primary aphakia (HP:0007707)2.17603292
113Acute necrotizing encephalopathy (HP:0006965)2.16777570
114Aplasia/Hypoplasia of the tongue (HP:0010295)2.15543528
115Chronic hepatic failure (HP:0100626)2.14860474
116Rhabdomyolysis (HP:0003201)2.13904937
117Cholecystitis (HP:0001082)2.13581220
118Abnormal gallbladder physiology (HP:0012438)2.13581220
119Aplasia/Hypoplasia of the tibia (HP:0005772)2.13106230
120Late onset (HP:0003584)2.12837296
121Gait imbalance (HP:0002141)2.09185894
122Abnormal cartilage morphology (HP:0002763)2.09069317
123Hyperuricemia (HP:0002149)2.08605000
124Increased purine levels (HP:0004368)2.08605000
125Constricted visual fields (HP:0001133)2.08561418
126Vascular calcification (HP:0004934)2.08244091
127Short tibia (HP:0005736)2.08178227
128Renal cortical cysts (HP:0000803)2.08046937
129Hypertriglyceridemia (HP:0002155)2.07813275
130Hypothermia (HP:0002045)2.05935301
131Nephrogenic diabetes insipidus (HP:0009806)2.04627036
132Abolished electroretinogram (ERG) (HP:0000550)2.04230867
133Abnormality of glycolysis (HP:0004366)2.03873073
134Increased serum pyruvate (HP:0003542)2.03873073
135Systemic lupus erythematosus (HP:0002725)2.03605813
136Bile duct proliferation (HP:0001408)2.02831338
137Abnormal biliary tract physiology (HP:0012439)2.02831338
138Opisthotonus (HP:0002179)2.02114800
139Abnormality of the renal cortex (HP:0011035)1.99828937
140Hyperglycemia (HP:0003074)1.99555928
141Postaxial hand polydactyly (HP:0001162)1.99297922
142Malnutrition (HP:0004395)1.97738944
143Sensorimotor neuropathy (HP:0007141)1.97216879
144Hydroxyprolinuria (HP:0003080)1.96394132
145Abnormality of proline metabolism (HP:0010907)1.96394132
146Increased muscle lipid content (HP:0009058)1.95625020
147Methylmalonic aciduria (HP:0012120)1.95591216
148Colon cancer (HP:0003003)1.93894431
149Glycosuria (HP:0003076)1.93557767
150Abnormality of urine glucose concentration (HP:0011016)1.93557767
151Abnormal mitochondria in muscle tissue (HP:0008316)1.92844314
152Type II lissencephaly (HP:0007260)1.92031931
153Esophageal varix (HP:0002040)1.91858930
154Genital tract atresia (HP:0001827)1.91538357
155Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.91121288
156Morphological abnormality of the inner ear (HP:0011390)1.90822391
157Enlarged kidneys (HP:0000105)1.90107995
158Acute hepatic failure (HP:0006554)1.89856424
159Amyloidosis (HP:0011034)1.89025257
160Progressive macrocephaly (HP:0004481)1.87470625
161Postaxial foot polydactyly (HP:0001830)1.87210626
162Abnormality of renal resorption (HP:0011038)1.86094887
163Polydipsia (HP:0001959)1.85557836
164Abnormal drinking behavior (HP:0030082)1.85557836
165Cardiovascular calcification (HP:0011915)1.84635316
166Decreased electroretinogram (ERG) amplitude (HP:0000654)1.84208448
167Elevated hepatic transaminases (HP:0002910)1.83634678
168Acanthocytosis (HP:0001927)1.82805986
169Exertional dyspnea (HP:0002875)1.82735326
170Abnormality of the gallbladder (HP:0005264)1.82365883
171Glomerulonephritis (HP:0000099)1.82306829
172Vaginal atresia (HP:0000148)1.82280690
173Increased serum lactate (HP:0002151)1.81546798
174Aplasia/Hypoplasia of the uvula (HP:0010293)1.81091605
175Sclerocornea (HP:0000647)1.77986347
176Pendular nystagmus (HP:0012043)1.73909193
177Menorrhagia (HP:0000132)1.73017009
178Supernumerary spleens (HP:0009799)1.72354999

Predicted kinase interactions (KEA)

RankGene SetZ-score
1* BCKDK7.56009580
2SIK14.26174604
3ERN14.01752332
4INSRR3.52475613
5FGFR43.17872487
6BUB13.09269755
7PKN23.01968298
8MAP4K22.97137651
9TRIB32.90135929
10ZAK2.50705956
11STK392.48891777
12PDK32.45832799
13PDK42.45832799
14FLT32.33641403
15ERBB42.12829804
16PINK12.09058973
17PDK22.03807582
18NUAK11.93005645
19ADRBK21.91764499
20GRK11.88306204
21VRK21.87793625
22EIF2AK21.83926961
23MAP2K41.79178690
24TRIM281.76562450
25VRK11.74461170
26STK38L1.74317977
27MAPK111.73234599
28ERBB31.72781885
29NEK11.72283103
30BMPR1B1.65583659
31MAP3K41.62509605
32PIK3CG1.57056724
33MST1R1.56776768
34LATS11.56058448
35OXSR11.46673176
36CAMK1D1.45331192
37PRKAA21.34312696
38BCR1.30594577
39MKNK11.29679366
40BRSK21.28482435
41ABL21.27579132
42MET1.24070443
43TAOK31.22532666
44MAP2K71.22477523
45RPS6KA41.19160786
46MAPK131.18028049
47TNIK1.17043822
48KDR1.14872574
49CSNK1A1L1.07155357
50PLK41.05061808
51TIE11.04115352
52PRKCE0.99430423
53MAP3K70.96563152
54TXK0.93967492
55DYRK20.93615217
56SRPK10.92488111
57EPHA40.92228405
58MAP2K30.91879980
59PRKAA10.90097088
60TAF10.89702640
61PLK30.89691805
62PTK60.89640549
63NEK90.88159753
64MKNK20.88042700
65ATR0.86736642
66MAP3K30.86070469
67MAPK120.85976547
68CDC70.85682987
69LATS20.84405241
70TGFBR10.84376585
71MAP2K10.84143423
72TYK20.81317977
73JAK20.79745407
74PHKG10.78800807
75PHKG20.78800807
76MAPKAPK50.78524021
77IRAK30.77982034
78EIF2AK10.77210268
79MUSK0.76889223
80FRK0.75897856
81PRKACG0.75165138
82TGFBR20.74941086
83KIT0.73447856
84PRKCZ0.73087901
85FGFR20.72864090
86CASK0.72447062
87CSNK1G30.72027716
88MAP3K110.71513974
89CSNK1G20.70930185
90CAMK2G0.70188282
91OBSCN0.69297568
92MAPK150.68971164
93PDPK10.68147724
94MST40.66781364
95PLK10.66473580
96PAK30.64164164
97MAPK40.63745109
98RPS6KA50.63569536
99TEC0.63333655
100TLK10.62001467
101PRKCQ0.61926976
102CDK40.61734354
103NLK0.61281079
104LMTK20.60747383
105PLK20.60487441
106MAP2K20.60405926
107MAPK70.60240620
108CDK80.60036278
109MAPKAPK30.59801881
110EPHB20.59798832
111ABL10.59129421
112PRKCG0.58009139
113MYLK0.56750337
114MTOR0.56470396
115ERBB20.56296623
116INSR0.56227738
117TTN0.56118530
118GSK3A0.55789868
119MAP3K60.55596401
120PIK3CA0.54402826
121NME20.52552817
122CDK60.52263736
123NTRK20.52117044
124IRAK20.50679973
125CDK190.50602120
126DAPK20.49829097
127WEE10.49712299
128ICK0.48646829
129MAP2K60.48480228
130WNK30.48270696
131ATM0.47721167
132AURKA0.46624129
133MINK10.46129377
134CAMK2A0.45010573
135STK160.44589311
136PDK10.44258120
137CAMK1G0.43818488
138WNK40.43554320
139KSR20.41924616
140DYRK1B0.41502952
141CSNK1A10.40934073
142AURKB0.40569133
143CDK30.40248136
144CHUK0.39286708
145FER0.38375859
146EPHB10.37093362
147CSNK1D0.36528859
148TAOK20.36365380
149ADRBK10.35907504
150PRKD10.34587187
151EIF2AK30.34324993
152MAP3K100.33733373
153CSNK1G10.33457927
154ACVR1B0.32839874
155PBK0.32347671
156SGK20.32159383
157MAP3K50.31637295
158JAK10.30620502
159AKT20.29971288
160TTK0.28170269
161PRKACA0.26257141
162IGF1R0.26111028
163PRKACB0.25265352
164PTK20.23121988
165EPHA30.22744031
166RET0.22714113
167GRK60.22393121
168TBK10.21804922
169PKN10.20042085

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.86441636
2Nitrogen metabolism_Homo sapiens_hsa009103.26469818
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.10135972
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.95240276
5Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.92236512
6* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.88474153
7Fatty acid degradation_Homo sapiens_hsa000712.81094548
8Arginine biosynthesis_Homo sapiens_hsa002202.75300120
9* Propanoate metabolism_Homo sapiens_hsa006402.64274910
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.62033105
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.56514904
12Tryptophan metabolism_Homo sapiens_hsa003802.48706455
13Butanoate metabolism_Homo sapiens_hsa006502.34944612
142-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.27826358
15Fatty acid metabolism_Homo sapiens_hsa012122.24171559
16Complement and coagulation cascades_Homo sapiens_hsa046102.20498755
17Peroxisome_Homo sapiens_hsa041462.09478990
18PPAR signaling pathway_Homo sapiens_hsa033202.05592922
19Pentose and glucuronate interconversions_Homo sapiens_hsa000402.02408712
20Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.88840486
21beta-Alanine metabolism_Homo sapiens_hsa004101.83745997
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.80209483
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77040945
24Pyruvate metabolism_Homo sapiens_hsa006201.74292957
25Chemical carcinogenesis_Homo sapiens_hsa052041.71806142
26Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.70858936
27Fatty acid elongation_Homo sapiens_hsa000621.68529066
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.67944400
29Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.67884231
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64668704
31Histidine metabolism_Homo sapiens_hsa003401.61313046
32Carbon metabolism_Homo sapiens_hsa012001.61094499
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.59377694
34Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.59072031
35Steroid hormone biosynthesis_Homo sapiens_hsa001401.56517259
36Protein export_Homo sapiens_hsa030601.53038534
37Caffeine metabolism_Homo sapiens_hsa002321.52532922
38Phenylalanine metabolism_Homo sapiens_hsa003601.49460913
39Selenocompound metabolism_Homo sapiens_hsa004501.47424269
40Biosynthesis of amino acids_Homo sapiens_hsa012301.46991658
41Sulfur metabolism_Homo sapiens_hsa009201.46055825
42Retinol metabolism_Homo sapiens_hsa008301.44051766
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.40299463
44Folate biosynthesis_Homo sapiens_hsa007901.37013168
45Tyrosine metabolism_Homo sapiens_hsa003501.34440196
46Fat digestion and absorption_Homo sapiens_hsa049751.27172939
47Phototransduction_Homo sapiens_hsa047441.25772105
48Bile secretion_Homo sapiens_hsa049761.25740394
49Staphylococcus aureus infection_Homo sapiens_hsa051501.25207158
50Starch and sucrose metabolism_Homo sapiens_hsa005001.23272155
51Fanconi anemia pathway_Homo sapiens_hsa034601.21171253
52Homologous recombination_Homo sapiens_hsa034401.14763765
53Vitamin B6 metabolism_Homo sapiens_hsa007501.09827342
54Base excision repair_Homo sapiens_hsa034101.05359471
55Cyanoamino acid metabolism_Homo sapiens_hsa004601.04849956
56Arginine and proline metabolism_Homo sapiens_hsa003301.04430984
57Sulfur relay system_Homo sapiens_hsa041221.00846653
58Steroid biosynthesis_Homo sapiens_hsa001000.97965230
59Non-homologous end-joining_Homo sapiens_hsa034500.95412184
60Proteasome_Homo sapiens_hsa030500.93774855
61ABC transporters_Homo sapiens_hsa020100.93175225
62Glycerolipid metabolism_Homo sapiens_hsa005610.93081244
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.92447668
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.92428931
65RNA polymerase_Homo sapiens_hsa030200.90507967
66Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90265061
67Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90118313
68RNA degradation_Homo sapiens_hsa030180.89351696
69Mismatch repair_Homo sapiens_hsa034300.88835002
70Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.88237457
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.86863028
72Fatty acid biosynthesis_Homo sapiens_hsa000610.84978657
73Vitamin digestion and absorption_Homo sapiens_hsa049770.84521374
74Serotonergic synapse_Homo sapiens_hsa047260.78813106
75One carbon pool by folate_Homo sapiens_hsa006700.78019558
76Basal transcription factors_Homo sapiens_hsa030220.76068844
77Lysine degradation_Homo sapiens_hsa003100.75031075
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.74830689
79Glutathione metabolism_Homo sapiens_hsa004800.74206914
80N-Glycan biosynthesis_Homo sapiens_hsa005100.72995654
81Pentose phosphate pathway_Homo sapiens_hsa000300.70780268
82Purine metabolism_Homo sapiens_hsa002300.69598847
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69492408
84Ribosome_Homo sapiens_hsa030100.68863121
85Nucleotide excision repair_Homo sapiens_hsa034200.68597501
86Taste transduction_Homo sapiens_hsa047420.67050732
87Hedgehog signaling pathway_Homo sapiens_hsa043400.64327796
88Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.63880466
89Salivary secretion_Homo sapiens_hsa049700.59606828
90* Metabolic pathways_Homo sapiens_hsa011000.56500904
91Olfactory transduction_Homo sapiens_hsa047400.55222747
92Basal cell carcinoma_Homo sapiens_hsa052170.52805675
93Ether lipid metabolism_Homo sapiens_hsa005650.51241295
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47632642
95Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44355610
96Nicotine addiction_Homo sapiens_hsa050330.43753101
97TGF-beta signaling pathway_Homo sapiens_hsa043500.43455792
98Carbohydrate digestion and absorption_Homo sapiens_hsa049730.42199763
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.38672674
100Fructose and mannose metabolism_Homo sapiens_hsa000510.38511026
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.36472102
102Galactose metabolism_Homo sapiens_hsa000520.33840359
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.32243091
104Insulin resistance_Homo sapiens_hsa049310.29529226
105alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29183006
106Prion diseases_Homo sapiens_hsa050200.27701179
107Linoleic acid metabolism_Homo sapiens_hsa005910.23372780
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.23207779
109Glucagon signaling pathway_Homo sapiens_hsa049220.22765508
110Oxidative phosphorylation_Homo sapiens_hsa001900.21743033
111AMPK signaling pathway_Homo sapiens_hsa041520.21365764
112Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.18468191
113Parkinsons disease_Homo sapiens_hsa050120.17291027
114Alzheimers disease_Homo sapiens_hsa050100.03578945
115Insulin signaling pathway_Homo sapiens_hsa049100.01760011
116Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00396491
117Pyrimidine metabolism_Homo sapiens_hsa00240-0.1976691
118Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1958405
119Protein digestion and absorption_Homo sapiens_hsa04974-0.1881324
120Renin-angiotensin system_Homo sapiens_hsa04614-0.1757604
121Cardiac muscle contraction_Homo sapiens_hsa04260-0.1739252
122Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.1460539
123Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1307174
124Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.1244244
125Regulation of autophagy_Homo sapiens_hsa04140-0.1223091
126Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1212300
127Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1129360
128Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0982620
129Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970-0.0942910
130Huntingtons disease_Homo sapiens_hsa05016-0.0675544
131Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0437485

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