AASS

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





Description: This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. 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)7.68717970
2L-phenylalanine catabolic process (GO:0006559)7.68717970
3L-phenylalanine metabolic process (GO:0006558)7.36452915
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.36452915
5aromatic amino acid family catabolic process (GO:0009074)6.96722686
6indole-containing compound catabolic process (GO:0042436)6.31026841
7indolalkylamine catabolic process (GO:0046218)6.31026841
8tryptophan catabolic process (GO:0006569)6.31026841
9glyoxylate metabolic process (GO:0046487)6.16382578
10kynurenine metabolic process (GO:0070189)6.02881560
11tryptophan metabolic process (GO:0006568)5.95376354
12cysteine metabolic process (GO:0006534)5.88065420
13bile acid biosynthetic process (GO:0006699)5.85625507
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.78799861
15urea metabolic process (GO:0019627)5.59575493
16urea cycle (GO:0000050)5.59575493
17regulation of gene silencing by RNA (GO:0060966)5.46225594
18regulation of posttranscriptional gene silencing (GO:0060147)5.46225594
19regulation of gene silencing by miRNA (GO:0060964)5.46225594
20sulfur amino acid catabolic process (GO:0000098)5.43336585
21serine family amino acid catabolic process (GO:0009071)5.42444766
22alpha-linolenic acid metabolic process (GO:0036109)5.39179138
23homocysteine metabolic process (GO:0050667)5.25974299
24nitrogen cycle metabolic process (GO:0071941)5.16499882
25negative regulation of fibrinolysis (GO:0051918)5.15759876
26fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.15198718
27aromatic amino acid family metabolic process (GO:0009072)5.06939725
28high-density lipoprotein particle remodeling (GO:0034375)5.04790703
29peptidyl-glutamic acid carboxylation (GO:0017187)5.02290263
30protein carboxylation (GO:0018214)5.02290263
31complement activation, alternative pathway (GO:0006957)4.99929501
32regulation of protein activation cascade (GO:2000257)4.96583747
33bile acid metabolic process (GO:0008206)4.96056110
34regulation of fibrinolysis (GO:0051917)4.94446903
35establishment of integrated proviral latency (GO:0075713)4.93580706
36amino-acid betaine metabolic process (GO:0006577)4.88100148
37negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.87590446
38negative regulation of translation, ncRNA-mediated (GO:0040033)4.87590446
39regulation of translation, ncRNA-mediated (GO:0045974)4.87590446
40* lysine metabolic process (GO:0006553)4.79208223
41* lysine catabolic process (GO:0006554)4.79208223
42L-serine metabolic process (GO:0006563)4.78850463
43tyrosine metabolic process (GO:0006570)4.77638678
44* alpha-amino acid catabolic process (GO:1901606)4.76093338
45pre-miRNA processing (GO:0031054)4.71333375
46regulation of complement activation (GO:0030449)4.63300342
47cellular ketone body metabolic process (GO:0046950)4.54979656
48serine family amino acid metabolic process (GO:0009069)4.53815706
49regulation of triglyceride catabolic process (GO:0010896)4.49158903
50indolalkylamine metabolic process (GO:0006586)4.47452724
51glycine metabolic process (GO:0006544)4.46954234
52drug catabolic process (GO:0042737)4.45366102
53* cellular amino acid catabolic process (GO:0009063)4.43959603
54reverse cholesterol transport (GO:0043691)4.42151878
55glutamate metabolic process (GO:0006536)4.41906333
56urate metabolic process (GO:0046415)4.41525817
57cellular modified amino acid catabolic process (GO:0042219)4.39478553
58regulation of cholesterol esterification (GO:0010872)4.37173627
59macromolecular complex remodeling (GO:0034367)4.35707112
60plasma lipoprotein particle remodeling (GO:0034369)4.35707112
61protein-lipid complex remodeling (GO:0034368)4.35707112
62negative regulation of cholesterol transport (GO:0032375)4.35373492
63negative regulation of sterol transport (GO:0032372)4.35373492
64coenzyme catabolic process (GO:0009109)4.35097113
65drug transmembrane transport (GO:0006855)4.33615194
66amine catabolic process (GO:0009310)4.33558458
67cellular biogenic amine catabolic process (GO:0042402)4.33558458
68triglyceride homeostasis (GO:0070328)4.33061584
69acylglycerol homeostasis (GO:0055090)4.33061584
70negative regulation of DNA-dependent DNA replication (GO:2000104)4.30207217
71serine family amino acid biosynthetic process (GO:0009070)4.28089084
72cellular glucuronidation (GO:0052695)4.27555765
73chromatin remodeling at centromere (GO:0031055)4.20630820
74benzene-containing compound metabolic process (GO:0042537)4.19737278
75bile acid and bile salt transport (GO:0015721)4.18024339
76DNA double-strand break processing (GO:0000729)4.13625651
77ethanol oxidation (GO:0006069)4.11459394
78phospholipid efflux (GO:0033700)4.09203762
79short-chain fatty acid metabolic process (GO:0046459)4.08752424
80imidazole-containing compound metabolic process (GO:0052803)4.08640756
81regulation of mitotic spindle checkpoint (GO:1903504)4.08580048
82regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.08580048
83dicarboxylic acid biosynthetic process (GO:0043650)4.08056127
84aldehyde catabolic process (GO:0046185)4.04441116
85protein localization to kinetochore (GO:0034501)4.03876864
86somatic diversification of immune receptors via somatic mutation (GO:0002566)4.00046129
87somatic hypermutation of immunoglobulin genes (GO:0016446)4.00046129
88plasma lipoprotein particle clearance (GO:0034381)3.99603020
89regulation of nuclear cell cycle DNA replication (GO:0033262)3.98762499
90arginine metabolic process (GO:0006525)3.98124926
91exogenous drug catabolic process (GO:0042738)3.97124683
92heterochromatin organization (GO:0070828)3.94182326
93ketone body metabolic process (GO:1902224)3.94007420
94regulation of helicase activity (GO:0051095)3.90063190
95* carboxylic acid catabolic process (GO:0046395)3.89441337
96* organic acid catabolic process (GO:0016054)3.89441337
97CENP-A containing nucleosome assembly (GO:0034080)3.86963294
98uronic acid metabolic process (GO:0006063)3.86288762
99glucuronate metabolic process (GO:0019585)3.86288762
100IMP biosynthetic process (GO:0006188)3.85827638
101nuclear pore complex assembly (GO:0051292)3.84648365
102cholesterol efflux (GO:0033344)3.80067702
1032-oxoglutarate metabolic process (GO:0006103)3.73886973
104fibrinolysis (GO:0042730)3.72900294
105histone exchange (GO:0043486)3.72109926
106regulation of bile acid biosynthetic process (GO:0070857)3.70975610
107regulation of cholesterol homeostasis (GO:2000188)3.68785501
108low-density lipoprotein particle remodeling (GO:0034374)3.66517991
109DNA replication-dependent nucleosome assembly (GO:0006335)3.66467413
110DNA replication-dependent nucleosome organization (GO:0034723)3.66467413
111plasma lipoprotein particle assembly (GO:0034377)3.62993589
112cofactor catabolic process (GO:0051187)3.62251736
113DNA replication checkpoint (GO:0000076)3.62147529
114fatty acid beta-oxidation (GO:0006635)3.61022264
115monocarboxylic acid catabolic process (GO:0072329)3.60926964
116fatty acid oxidation (GO:0019395)3.60640147
117drug transport (GO:0015893)3.59838119
118* acetyl-CoA metabolic process (GO:0006084)3.59380073
119phospholipid homeostasis (GO:0055091)3.59145809
120carnitine metabolic process (GO:0009437)3.58134971
121cholesterol homeostasis (GO:0042632)3.57755699
122nuclear pore organization (GO:0006999)3.56630548
123drug metabolic process (GO:0017144)3.55401524
124flavonoid metabolic process (GO:0009812)3.54419696
125sterol homeostasis (GO:0055092)3.54217564
126establishment of viral latency (GO:0019043)3.54156443
127lipid oxidation (GO:0034440)3.53840848
128IMP metabolic process (GO:0046040)3.52967133
129negative regulation of mitotic sister chromatid separation (GO:2000816)3.52911076
130negative regulation of sister chromatid segregation (GO:0033046)3.52911076
131negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.52911076
132negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.52911076
133negative regulation of mitotic sister chromatid segregation (GO:0033048)3.52911076
134* aspartate family amino acid catabolic process (GO:0009068)3.51464634
135purine nucleobase biosynthetic process (GO:0009113)3.50980311
136positive regulation of lipoprotein lipase activity (GO:0051006)3.49874389
137replication fork processing (GO:0031297)3.49452687
138DNA strand elongation involved in DNA replication (GO:0006271)3.49352746
139lung-associated mesenchyme development (GO:0060484)3.48705587
140protein complex localization (GO:0031503)3.47751395
141negative regulation of chromosome segregation (GO:0051985)3.47317251
142DNA replication-independent nucleosome organization (GO:0034724)3.45675525
143DNA replication-independent nucleosome assembly (GO:0006336)3.45675525
144regulation of histone H3-K9 methylation (GO:0051570)3.44043346
145spindle checkpoint (GO:0031577)3.41657545
146nucleobase biosynthetic process (GO:0046112)3.40924159
147non-recombinational repair (GO:0000726)3.39779371
148double-strand break repair via nonhomologous end joining (GO:0006303)3.39779371
149mitotic sister chromatid cohesion (GO:0007064)3.39704694
150telomere maintenance via telomerase (GO:0007004)3.37914182
151mitotic spindle checkpoint (GO:0071174)3.35316280
152positive regulation of SMAD protein import into nucleus (GO:0060391)3.33409544
153response to X-ray (GO:0010165)3.32333739
154mitotic metaphase plate congression (GO:0007080)3.29030111
155DNA strand elongation (GO:0022616)3.27668073
156negative regulation of DNA recombination (GO:0045910)3.27332217
157presynaptic membrane assembly (GO:0097105)3.22650688
158paraxial mesoderm development (GO:0048339)3.20740992
159DNA ligation (GO:0006266)3.20177103
160regulation of mitotic metaphase/anaphase transition (GO:0030071)3.18614384
161regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.18614384
162regulation of gene silencing (GO:0060968)3.17570704
163regulation of sister chromatid segregation (GO:0033045)3.13920252
164regulation of mitotic sister chromatid separation (GO:0010965)3.13920252
165regulation of mitotic sister chromatid segregation (GO:0033047)3.13920252
166DNA unwinding involved in DNA replication (GO:0006268)3.13322785
167regulation of centriole replication (GO:0046599)3.13269581
168regulation of cell fate specification (GO:0042659)3.11627514
169metaphase plate congression (GO:0051310)3.04668396
170presynaptic membrane organization (GO:0097090)3.03541583
171regulation of chromosome segregation (GO:0051983)3.03327447
172cell fate commitment involved in formation of primary germ layer (GO:0060795)3.03210751
173mitotic spindle assembly checkpoint (GO:0007094)3.01959934
174ATP-dependent chromatin remodeling (GO:0043044)2.96638112
175spindle assembly checkpoint (GO:0071173)2.95245475
176anterior/posterior axis specification, embryo (GO:0008595)2.94972447
177pore complex assembly (GO:0046931)2.94552448
178DNA strand renaturation (GO:0000733)2.93767886
179protein localization to chromosome, centromeric region (GO:0071459)2.92929693
180telomere maintenance via semi-conservative replication (GO:0032201)2.92636049
181maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.92604268
182negative regulation of mitosis (GO:0045839)2.91420660
183female gonad development (GO:0008585)2.90944345
184regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.90819809
185mitotic G2/M transition checkpoint (GO:0044818)2.89183766
186regulation of telomere maintenance via telomerase (GO:0032210)2.88414038
187ribosome assembly (GO:0042255)2.87439039
188regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.87156706
189DNA damage response, detection of DNA damage (GO:0042769)2.86047453
190DNA catabolic process, exonucleolytic (GO:0000738)2.77328040
191single strand break repair (GO:0000012)2.76935236
192mitotic recombination (GO:0006312)2.76737865
193negative regulation of fibroblast apoptotic process (GO:2000270)2.76659092
194regulation of chromatin silencing (GO:0031935)2.76239547
195RNA-dependent DNA replication (GO:0006278)2.75018822
196intra-S DNA damage checkpoint (GO:0031573)2.73193441
197regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.72553055

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.34985818
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.15668726
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.79023335
4E2F7_22180533_ChIP-Seq_HELA_Human6.74978659
5* LXR_22158963_ChIP-Seq_LIVER_Mouse6.44947381
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.15041174
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.88314471
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.78420495
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.01533537
10SALL1_21062744_ChIP-ChIP_HESCs_Human4.00741660
11* CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.82860360
12E2F4_17652178_ChIP-ChIP_JURKAT_Human3.63113406
13FOXM1_23109430_ChIP-Seq_U2OS_Human2.83046718
14POU5F1_16153702_ChIP-ChIP_HESCs_Human2.78537550
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.68723755
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.59115322
17KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.51078272
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.36915431
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.34940438
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.33310677
21ZNF274_21170338_ChIP-Seq_K562_Hela2.23470878
22MYC_18555785_ChIP-Seq_MESCs_Mouse2.18493655
23FUS_26573619_Chip-Seq_HEK293_Human2.18403325
24SOX2_16153702_ChIP-ChIP_HESCs_Human2.17973850
25HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.12833769
26TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.11842594
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.11145823
28NANOG_16153702_ChIP-ChIP_HESCs_Human2.11026323
29KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.10823039
30KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.10823039
31KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.10823039
32NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.10808020
33TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.10776199
34EWS_26573619_Chip-Seq_HEK293_Human2.07813620
35EST1_17652178_ChIP-ChIP_JURKAT_Human2.03609993
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.03546722
37ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.8392482
38ELK1_19687146_ChIP-ChIP_HELA_Human1.82638584
39NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.80215939
40GABP_17652178_ChIP-ChIP_JURKAT_Human1.77669096
41* P300_19829295_ChIP-Seq_ESCs_Human1.76932414
42FLI1_27457419_Chip-Seq_LIVER_Mouse1.73059115
43AR_21909140_ChIP-Seq_LNCAP_Human1.70033339
44MYC_19030024_ChIP-ChIP_MESCs_Mouse1.69305492
45FOXA2_19822575_ChIP-Seq_HepG2_Human1.66087698
46GBX2_23144817_ChIP-Seq_PC3_Human1.65040463
47CLOCK_20551151_ChIP-Seq_293T_Human1.64649311
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.63877591
49HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.59318374
50VDR_22108803_ChIP-Seq_LS180_Human1.58777220
51MYC_19079543_ChIP-ChIP_MESCs_Mouse1.57983141
52SOX2_18555785_ChIP-Seq_MESCs_Mouse1.57470450
53POU3F2_20337985_ChIP-ChIP_501MEL_Human1.56136234
54MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.50870631
55POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.50268098
56CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.49777424
57YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49520836
58* HNF4A_19822575_ChIP-Seq_HepG2_Human1.47674564
59PADI4_21655091_ChIP-ChIP_MCF-7_Human1.44159452
60ZFP57_27257070_Chip-Seq_ESCs_Mouse1.40235385
61MYC_18940864_ChIP-ChIP_HL60_Human1.39455659
62HTT_18923047_ChIP-ChIP_STHdh_Human1.38610140
63HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.37850526
64TCF3_18692474_ChIP-Seq_MEFs_Mouse1.37192427
65MYCN_18555785_ChIP-Seq_MESCs_Mouse1.35846280
66NELFA_20434984_ChIP-Seq_ESCs_Mouse1.35029855
67TCF3_18692474_ChIP-Seq_MESCs_Mouse1.30666534
68GATA1_22025678_ChIP-Seq_K562_Human1.29638155
69PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28646310
70STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.28586886
71* CREB1_15753290_ChIP-ChIP_HEK293T_Human1.27952328
72POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.25019043
73SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.21312097
74TBX3_20139965_ChIP-Seq_ESCs_Mouse1.21071388
75SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.19632378
76TBX3_20139965_ChIP-Seq_MESCs_Mouse1.19553553
77E2F1_18555785_ChIP-Seq_MESCs_Mouse1.18191497
78RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15972022
79POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.15223274
80FOXP3_21729870_ChIP-Seq_TREG_Human1.14330396
81IGF1R_20145208_ChIP-Seq_DFB_Human1.14184853
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12884427
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.12884427
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.11042300
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09218488
86TP63_19390658_ChIP-ChIP_HaCaT_Human1.09114357
87ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07816183
88THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07607451
89ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05909748
90NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.05738078
91GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.05340718
92CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.05329216
93PCGF2_27294783_Chip-Seq_NPCs_Mouse1.04814315
94NANOG_18555785_ChIP-Seq_MESCs_Mouse1.04538198
95* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.04402707
96PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.04320240
97TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.04183905
98SOX2_27498859_Chip-Seq_STOMACH_Mouse1.04007457
99MYC_18358816_ChIP-ChIP_MESCs_Mouse1.03786587
100GATA1_26923725_Chip-Seq_HPCs_Mouse1.01676957
101FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.01391336
102MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99480163
103STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99034350
104ETS1_20019798_ChIP-Seq_JURKAT_Human0.98815365
105POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.98807620
106SOX9_26525672_Chip-Seq_HEART_Mouse0.97492444
107* CTBP2_25329375_ChIP-Seq_LNCAP_Human0.96774320
108IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.96670286
109EZH2_27294783_Chip-Seq_NPCs_Mouse0.96252157
110* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.95524040
111NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.95217155
112PIAS1_25552417_ChIP-Seq_VCAP_Human0.94772178
113SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94047366
114TTF2_22483619_ChIP-Seq_HELA_Human0.93555736
115RARG_19884340_ChIP-ChIP_MEFs_Mouse0.93179306
116VDR_23849224_ChIP-Seq_CD4+_Human0.92946834
117GATA4_25053715_ChIP-Seq_YYC3_Human0.92841646
118* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92797707
119OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.92701069
120* IRF1_19129219_ChIP-ChIP_H3396_Human0.92024805
121STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91944993
122TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90876453
123UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90559662
124ESR1_15608294_ChIP-ChIP_MCF-7_Human0.90404854
125NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.90117554
126CTBP1_25329375_ChIP-Seq_LNCAP_Human0.89723183
127GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89386920
128SMAD3_21741376_ChIP-Seq_EPCs_Human0.88071976
129PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86749511
130ESR2_21235772_ChIP-Seq_MCF-7_Human0.83316578
131AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83187460
132KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80620201
133ESR1_21235772_ChIP-Seq_MCF-7_Human0.80294604
134AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.77732885
135BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.77480324
136SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.74953378
137SALL4_18804426_ChIP-ChIP_XEN_Mouse0.73993771
138ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.73624801
139NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.72465143
140CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.71844350
141IRF8_22096565_ChIP-ChIP_GC-B_Human0.71575203
142Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.70840877
143SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.70476729
144RARA_24833708_ChIP-Seq_LIVER_Mouse0.69205215
145NRF2_20460467_ChIP-Seq_MEFs_Mouse0.66252940
146NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.66252940
147RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.66191883
148ZNF263_19887448_ChIP-Seq_K562_Human0.65606608
149BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.63018905
150RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62528098
151STAT3_1855785_ChIP-Seq_MESCs_Mouse0.61831251
152CEBPB_22108803_ChIP-Seq_LS180_Human0.60844043
153FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.59903996
154CDX2_20551321_ChIP-Seq_CACO-2_Human0.59143748
155EGR1_19032775_ChIP-ChIP_M12_Human0.58623384
156NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.58555432
157RARB_24833708_ChIP-Seq_LIVER_Mouse0.57872247
158FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.56550511
159FOXA1_25552417_ChIP-Seq_VCAP_Human0.56013890
160AR_20517297_ChIP-Seq_VCAP_Human0.55681014
161LXR_22292898_ChIP-Seq_THP-1_Human0.55303714
162ESET_19884257_ChIP-Seq_ESCs_Mouse0.54221969
163FOXO3_23340844_ChIP-Seq_DLD1_Human0.53379320
164MYC_19915707_ChIP-ChIP_AK7_Human0.52579858
165CBP_21632823_ChIP-Seq_H3396_Human0.52464296
166FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.52073295
167STAT1_17558387_ChIP-Seq_HELA_Human0.51254914
168GATA6_25053715_ChIP-Seq_YYC3_Human0.51146047
169PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.48235368
170PPAR_26484153_Chip-Seq_NCI-H1993_Human0.47776238
171FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.47370166
172PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.46390330
173P53_21459846_ChIP-Seq_SAOS-2_Human0.45026861
174E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.44298881
175TAF2_19829295_ChIP-Seq_ESCs_Human0.44162974
176ERG_21242973_ChIP-ChIP_JURKAT_Human0.44078064
177CDX2_22108803_ChIP-Seq_LS180_Human0.43670430
178PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.42963135
179PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.42259717
180GATA2_19941826_ChIP-Seq_K562_Human0.41214696
181STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.40528935
182ESR1_20079471_ChIP-ChIP_T-47D_Human0.40493197
183ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.40344558
184CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.40132031
185TAF15_26573619_Chip-Seq_HEK293_Human0.39769053
186GATA1_19941826_ChIP-Seq_K562_Human0.39336817
187BCAT_22108803_ChIP-Seq_LS180_Human0.38911483
188GATA1_19941827_ChIP-Seq_MEL_Mouse0.38628651
189FOXH1_21741376_ChIP-Seq_EPCs_Human0.38374922
190SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38250008
191GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.37840342
192GATA3_24758297_ChIP-Seq_MCF-7_Human0.37807678
193GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.37799064
194SOX2_20726797_ChIP-Seq_SW620_Human0.37278995
195ERG_20517297_ChIP-Seq_VCAP_Human0.37080812
196SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.36748024
197CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.36518764

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.15242391
2MP0005360_urolithiasis7.91267754
3MP0005085_abnormal_gallbladder_physiolo6.20747816
4MP0005365_abnormal_bile_salt5.99721915
5MP0008875_abnormal_xenobiotic_pharmacok5.03308744
6MP0003806_abnormal_nucleotide_metabolis4.12237909
7MP0003941_abnormal_skin_development3.92052556
8MP0003252_abnormal_bile_duct3.91853557
9MP0003693_abnormal_embryo_hatching3.42708583
10MP0008877_abnormal_DNA_methylation3.37559414
11MP0010329_abnormal_lipoprotein_level3.33600099
12MP0005332_abnormal_amino_acid3.22279681
13MP0010094_abnormal_chromosome_stability3.15954626
14MP0008058_abnormal_DNA_repair3.11591229
15MP0003195_calcinosis3.10591605
16MP0005083_abnormal_biliary_tract2.91419267
17MP0009840_abnormal_foam_cell2.90364790
18MP0004957_abnormal_blastocyst_morpholog2.84735303
19MP0008057_abnormal_DNA_replication2.81033352
20MP0003111_abnormal_nucleus_morphology2.77958506
21MP0004019_abnormal_vitamin_homeostasis2.62381147
22MP0001666_abnormal_nutrient_absorption2.58980261
23MP0006292_abnormal_olfactory_placode2.56658322
24MP0003890_abnormal_embryonic-extraembry2.45004658
25MP0001293_anophthalmia2.42405617
26MP0002138_abnormal_hepatobiliary_system2.34747447
27MP0008932_abnormal_embryonic_tissue2.23683394
28MP0003136_yellow_coat_color2.17624306
29MP0003191_abnormal_cellular_cholesterol2.16031897
30MP0003567_abnormal_fetal_cardiomyocyte2.08870940
31MP0000609_abnormal_liver_physiology2.05384081
32MP0003937_abnormal_limbs/digits/tail_de2.04901375
33MP0002118_abnormal_lipid_homeostasis2.02918211
34MP0003077_abnormal_cell_cycle2.01267108
35MP0010030_abnormal_orbit_morphology1.90468737
36MP0002938_white_spotting1.89327751
37MP0008007_abnormal_cellular_replicative1.86304334
38MP0005319_abnormal_enzyme/_coenzyme1.84068274
39MP0003868_abnormal_feces_composition1.81619106
40MP0003121_genomic_imprinting1.74628863
41MP0003119_abnormal_digestive_system1.74299197
42MP0001764_abnormal_homeostasis1.68952640
43MP0009643_abnormal_urine_homeostasis1.64991348
44MP0004133_heterotaxia1.64620098
45MP0002736_abnormal_nociception_after1.63017389
46MP0002697_abnormal_eye_size1.62444447
47MP0003787_abnormal_imprinting1.62202806
48MP0005584_abnormal_enzyme/coenzyme_acti1.61845557
49MP0009703_decreased_birth_body1.58343211
50MP0005451_abnormal_body_composition1.56601511
51MP0001299_abnormal_eye_distance/1.51665493
52MP0002102_abnormal_ear_morphology1.50056946
53MP0001188_hyperpigmentation1.49200041
54MP0001730_embryonic_growth_arrest1.48230950
55MP0002233_abnormal_nose_morphology1.44688336
56MP0000566_synostosis1.42823467
57MP0002084_abnormal_developmental_patter1.42373343
58MP0002085_abnormal_embryonic_tissue1.41671687
59MP0010352_gastrointestinal_tract_polyps1.41402080
60MP0003186_abnormal_redox_activity1.41195238
61MP0002751_abnormal_autonomic_nervous1.36457114
62MP0001286_abnormal_eye_development1.35894480
63MP0009697_abnormal_copulation1.31271836
64MP0000049_abnormal_middle_ear1.29262549
65MP0003122_maternal_imprinting1.26762070
66MP0004197_abnormal_fetal_growth/weight/1.24961406
67MP0005636_abnormal_mineral_homeostasis1.24911250
68MP0006072_abnormal_retinal_apoptosis1.24569613
69MP0010307_abnormal_tumor_latency1.24315640
70MP0005380_embryogenesis_phenotype1.23472653
71MP0001672_abnormal_embryogenesis/_devel1.23472653
72MP0003011_delayed_dark_adaptation1.20496367
73MP0001177_atelectasis1.16642107
74MP0002111_abnormal_tail_morphology1.15519343
75MP0001485_abnormal_pinna_reflex1.15290661
76MP0001697_abnormal_embryo_size1.14953453
77MP0000598_abnormal_liver_morphology1.14806287
78MP0000516_abnormal_urinary_system1.11414263
79MP0005367_renal/urinary_system_phenotyp1.11414263
80MP0000537_abnormal_urethra_morphology1.11327556
81MP0003656_abnormal_erythrocyte_physiolo1.10566062
82MP0008789_abnormal_olfactory_epithelium1.09895508
83MP0003705_abnormal_hypodermis_morpholog1.08734262
84MP0001529_abnormal_vocalization1.08354995
85MP0000428_abnormal_craniofacial_morphol1.08143278
86MP0000647_abnormal_sebaceous_gland1.07171589
87MP0005647_abnormal_sex_gland1.06737276
88MP0003861_abnormal_nervous_system1.06654607
89MP0000350_abnormal_cell_proliferation1.06633142
90MP0003880_abnormal_central_pattern1.06379429
91MP0001984_abnormal_olfaction1.06093899
92MP0009764_decreased_sensitivity_to1.04859484
93MP0002088_abnormal_embryonic_growth/wei1.03763589
94MP0003984_embryonic_growth_retardation1.02344581
95MP0003755_abnormal_palate_morphology1.02318549
96MP0004043_abnormal_pH_regulation0.99795224
97MP0002090_abnormal_vision0.98425300
98MP0000604_amyloidosis0.97662305
99MP0003123_paternal_imprinting0.95842676
100MP0000432_abnormal_head_morphology0.95319541
101MP0001756_abnormal_urination0.93782492
102MP0009763_increased_sensitivity_to0.92756645
103MP0005084_abnormal_gallbladder_morpholo0.92624234
104MP0002080_prenatal_lethality0.91709668
105MP0006036_abnormal_mitochondrial_physio0.91518014
106MP0005670_abnormal_white_adipose0.91136598
107MP0005408_hypopigmentation0.89381292
108MP0000631_abnormal_neuroendocrine_gland0.88671307
109MP0009642_abnormal_blood_homeostasis0.88390756
110MP0005391_vision/eye_phenotype0.87480314
111MP0005220_abnormal_exocrine_pancreas0.86562816
112MP0002254_reproductive_system_inflammat0.85738860
113MP0005253_abnormal_eye_physiology0.85649392
114MP0008469_abnormal_protein_level0.85523592
115MP0002876_abnormal_thyroid_physiology0.83860486
116MP0005394_taste/olfaction_phenotype0.83327905
117MP0005499_abnormal_olfactory_system0.83327905
118MP0000778_abnormal_nervous_system0.82580893
119MP0002092_abnormal_eye_morphology0.82021657
120MP0004272_abnormal_basement_membrane0.79900169
121MP0002136_abnormal_kidney_physiology0.79442827
122MP0002078_abnormal_glucose_homeostasis0.77137303
123MP0010368_abnormal_lymphatic_system0.76642800
124MP0005376_homeostasis/metabolism_phenot0.75989367
125MP0003935_abnormal_craniofacial_develop0.75765342
126MP0009765_abnormal_xenobiotic_induced0.74972507
127MP0005535_abnormal_body_temperature0.74081113
128MP0003938_abnormal_ear_development0.73838577
129MP0003878_abnormal_ear_physiology0.73303038
130MP0005377_hearing/vestibular/ear_phenot0.73303038
131MP0001661_extended_life_span0.72447396
132MP0001929_abnormal_gametogenesis0.71866396
133MP0000383_abnormal_hair_follicle0.70448851
134MP0003786_premature_aging0.70229170
135MP0001145_abnormal_male_reproductive0.69853179
136MP0002971_abnormal_brown_adipose0.68138029
137MP0001968_abnormal_touch/_nociception0.66515477
138MP0002086_abnormal_extraembryonic_tissu0.66474356
139MP0001346_abnormal_lacrimal_gland0.66442602
140MP0002210_abnormal_sex_determination0.66074556
141MP0003115_abnormal_respiratory_system0.65746422
142MP0000653_abnormal_sex_gland0.65512928
143MP0004215_abnormal_myocardial_fiber0.65483611
144MP0001849_ear_inflammation0.65418637
145MP0000313_abnormal_cell_death0.64951282
146MP0001765_abnormal_ion_homeostasis0.63497677
147MP0009250_abnormal_appendicular_skeleto0.63366502
148MP0005551_abnormal_eye_electrophysiolog0.63248944
149MP0005334_abnormal_fat_pad0.62079569
150MP0005266_abnormal_metabolism0.61565573
151MP0002928_abnormal_bile_duct0.61362044
152MP0003329_amyloid_beta_deposits0.61155949
153MP0004130_abnormal_muscle_cell0.61046074
154MP0003690_abnormal_glial_cell0.60276616
155MP0009053_abnormal_anal_canal0.59370321
156MP0005395_other_phenotype0.57677152
157MP0006035_abnormal_mitochondrial_morpho0.57129993
158MP0003638_abnormal_response/metabolism_0.52048425
159MP0003718_maternal_effect0.50318912
160MP0000639_abnormal_adrenal_gland0.50104907
161MP0005666_abnormal_adipose_tissue0.48400526
162MP0005058_abnormal_lysosome_morphology0.47038983
163MP0005448_abnormal_energy_balance0.45927213
164MP0002168_other_aberrant_phenotype0.44961322
165MP0000230_abnormal_systemic_arterial0.44319194
166MP0003953_abnormal_hormone_level0.43336960
167MP0008874_decreased_physiological_sensi0.40880295
168MP0008873_increased_physiological_sensi0.40071747
169MP0004264_abnormal_extraembryonic_tissu0.39665177
170MP0005464_abnormal_platelet_physiology0.38590533
171MP0009672_abnormal_birth_weight0.38462932
172MP0004782_abnormal_surfactant_physiolog0.37939843
173MP0002796_impaired_skin_barrier0.37429169
174MP0009384_cardiac_valve_regurgitation0.37101430
175MP0003075_altered_response_to0.36110481
176MP0005166_decreased_susceptibility_to0.36073671
177MP0008872_abnormal_physiological_respon0.35087062
178MP0002135_abnormal_kidney_morphology0.34725131
179MP0003724_increased_susceptibility_to0.34563890
180MP0002837_dystrophic_cardiac_calcinosis0.34123492
181MP0000538_abnormal_urinary_bladder0.33634648
182MP0000579_abnormal_nail_morphology0.32923274
183MP0005248_abnormal_Harderian_gland0.31349406
184MP0002822_catalepsy0.31122545
185MP0009115_abnormal_fat_cell0.29433895
186MP0010234_abnormal_vibrissa_follicle0.28142057
187MP0002970_abnormal_white_adipose0.26523428
188MP0001845_abnormal_inflammatory_respons0.26275738
189MP0003436_decreased_susceptibility_to0.26266142
190MP0003300_gastrointestinal_ulcer0.26089374
191MP0003959_abnormal_lean_body0.24400180
192MP0001881_abnormal_mammary_gland0.24339832
193MP0000249_abnormal_blood_vessel0.23523894

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.21207337
2Intrahepatic cholestasis (HP:0001406)6.90363696
3Deep venous thrombosis (HP:0002625)6.79437400
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.38850470
5Xanthomatosis (HP:0000991)6.01319941
6Prolonged partial thromboplastin time (HP:0003645)5.85398156
7Hypobetalipoproteinemia (HP:0003563)5.84912607
8Abnormality of the labia minora (HP:0012880)5.05858568
9Hyperlipoproteinemia (HP:0010980)5.05439546
10Complement deficiency (HP:0004431)4.90135544
11Abnormality of glutamine family amino acid metabolism (HP:0010902)4.78138853
12Hyperammonemia (HP:0001987)4.73336984
13Colon cancer (HP:0003003)4.69196614
14Hyperglycinemia (HP:0002154)4.67196420
15Hyperglycinuria (HP:0003108)4.58116210
16Ketosis (HP:0001946)4.53911184
17Abnormality of sulfur amino acid metabolism (HP:0004339)4.40623910
18Abnormality of glycine metabolism (HP:0010895)4.40395917
19Abnormality of serine family amino acid metabolism (HP:0010894)4.40395917
20Joint hemorrhage (HP:0005261)4.36901658
21Hypolipoproteinemia (HP:0010981)4.36468812
22Epidermoid cyst (HP:0200040)4.22212141
23Septo-optic dysplasia (HP:0100842)4.12417904
24Abnormality of methionine metabolism (HP:0010901)4.12179495
25Abnormality of the common coagulation pathway (HP:0010990)4.11691861
26Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.98782198
27* Abnormality of aspartate family amino acid metabolism (HP:0010899)3.97824378
28Fat malabsorption (HP:0002630)3.97326028
29Hypoalphalipoproteinemia (HP:0003233)3.80141070
30Abnormality of pyrimidine metabolism (HP:0004353)3.78972123
31Hypoglycemic coma (HP:0001325)3.78326301
32Ependymoma (HP:0002888)3.66496805
33Gout (HP:0001997)3.65199683
34Abnormality of fatty-acid metabolism (HP:0004359)3.57573566
35Abnormality of complement system (HP:0005339)3.52440773
36Conjugated hyperbilirubinemia (HP:0002908)3.50455544
37Ketoacidosis (HP:0001993)3.48136867
38Abnormality of nucleobase metabolism (HP:0010932)3.47548865
39Abnormality of the intrinsic pathway (HP:0010989)3.45775954
40Embryonal renal neoplasm (HP:0011794)3.44966200
41Nephroblastoma (Wilms tumor) (HP:0002667)3.42000434
42Delayed CNS myelination (HP:0002188)3.34397342
43Hepatoblastoma (HP:0002884)3.32029281
44Abnormality of purine metabolism (HP:0004352)3.31837236
45Hypercholesterolemia (HP:0003124)3.27189171
46Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.26423785
47Abnormal lung lobation (HP:0002101)3.18255794
48Hyperbilirubinemia (HP:0002904)3.17816216
49Chromosomal breakage induced by crosslinking agents (HP:0003221)3.12017761
50Hepatocellular carcinoma (HP:0001402)3.00417677
51Steatorrhea (HP:0002570)2.98877552
52Metabolic acidosis (HP:0001942)2.95953778
53Chromsome breakage (HP:0040012)2.95503124
54Stenosis of the external auditory canal (HP:0000402)2.93383033
55* Abnormality of serum amino acid levels (HP:0003112)2.88210015
56Vascular calcification (HP:0004934)2.86788590
57Meckel diverticulum (HP:0002245)2.84388045
58Birth length less than 3rd percentile (HP:0003561)2.83720006
59Rhabdomyosarcoma (HP:0002859)2.82848415
60Glioma (HP:0009733)2.81607236
61Lethargy (HP:0001254)2.80116735
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.78666940
63Dicarboxylic aciduria (HP:0003215)2.78666940
64Spontaneous abortion (HP:0005268)2.74405668
65Absent septum pellucidum (HP:0001331)2.74184449
66Abnormality of the septum pellucidum (HP:0007375)2.74138192
67Abnormality of the ileum (HP:0001549)2.72376912
68Intestinal atresia (HP:0011100)2.67676283
69Generalized aminoaciduria (HP:0002909)2.67310988
70Alkalosis (HP:0001948)2.65848640
71Myocardial infarction (HP:0001658)2.65735144
72Proximal tubulopathy (HP:0000114)2.62514663
73Neoplasm of the adrenal cortex (HP:0100641)2.60537301
74Abnormality of chromosome stability (HP:0003220)2.60270018
75Astrocytoma (HP:0009592)2.58260798
76Abnormality of the astrocytes (HP:0100707)2.58260798
77Skin nodule (HP:0200036)2.57481461
78Hypochromic microcytic anemia (HP:0004840)2.56466582
79Medulloblastoma (HP:0002885)2.55678966
80Cardiovascular calcification (HP:0011915)2.53979361
81Choanal stenosis (HP:0000452)2.52901068
82Bilateral microphthalmos (HP:0007633)2.52645586
83Malnutrition (HP:0004395)2.52408710
84Hyperuricemia (HP:0002149)2.51869520
85Increased purine levels (HP:0004368)2.51869520
86Irritability (HP:0000737)2.51138020
87Pancreatic islet-cell hyperplasia (HP:0004510)2.50512312
88Systemic lupus erythematosus (HP:0002725)2.50509730
89Volvulus (HP:0002580)2.50288691
90Cerebral edema (HP:0002181)2.48445065
91Aplasia/Hypoplasia of the sternum (HP:0006714)2.48079331
92Agnosia (HP:0010524)2.46954627
93Neonatal onset (HP:0003623)2.44555129
94Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.44432188
95Bifid tongue (HP:0010297)2.43008452
96Ectopic kidney (HP:0000086)2.39603806
97Optic nerve hypoplasia (HP:0000609)2.39550001
98Enlarged kidneys (HP:0000105)2.38674382
99Hypoglycemic seizures (HP:0002173)2.36299616
100Abnormal hair whorl (HP:0010721)2.35207350
101Cortical dysplasia (HP:0002539)2.32923843
102Vomiting (HP:0002013)2.31584418
103Biliary tract neoplasm (HP:0100574)2.30875996
104Sensorimotor neuropathy (HP:0007141)2.29823215
105Acanthocytosis (HP:0001927)2.29238464
106Absent radius (HP:0003974)2.28684579
107Abnormality of proline metabolism (HP:0010907)2.28618992
108Hydroxyprolinuria (HP:0003080)2.28618992
109Neoplasm of the colon (HP:0100273)2.28412342
110Aplasia/Hypoplasia of the uvula (HP:0010293)2.26992457
111Rickets (HP:0002748)2.26889886
112Gastrointestinal atresia (HP:0002589)2.24122877
113Mitral stenosis (HP:0001718)2.23380254
114Aqueductal stenosis (HP:0002410)2.23169605
115Glomerulonephritis (HP:0000099)2.22612596
116Chronic bronchitis (HP:0004469)2.22580726
117Late onset (HP:0003584)2.21237116
118Pancreatitis (HP:0001733)2.21093130
119Abnormality of the duodenum (HP:0002246)2.20117879
120Glycosuria (HP:0003076)2.19553993
121Abnormality of urine glucose concentration (HP:0011016)2.19553993
122Abnormal gallbladder morphology (HP:0012437)2.19361097
123Esophageal atresia (HP:0002032)2.16519888
124Neoplasm of the oral cavity (HP:0100649)2.16034273
125Cholelithiasis (HP:0001081)2.14859739
126Aplasia involving forearm bones (HP:0009822)2.14287174
127Absent forearm bone (HP:0003953)2.14287174
128Small intestinal stenosis (HP:0012848)2.13880671
129Duodenal stenosis (HP:0100867)2.13880671
130Esophageal varix (HP:0002040)2.10012211
131Cholecystitis (HP:0001082)2.08873418
132Abnormal gallbladder physiology (HP:0012438)2.08873418
133Abnormal enzyme/coenzyme activity (HP:0012379)2.08580263
134Hypoplastic female external genitalia (HP:0012815)2.08331364
135Supernumerary spleens (HP:0009799)2.07847073
136Triphalangeal thumb (HP:0001199)2.07687429
137Embryonal neoplasm (HP:0002898)2.04276231
138Increased nuchal translucency (HP:0010880)2.04007907
139Recurrent gram-negative bacterial infections (HP:0005420)2.03316707
140Neoplasm of the adrenal gland (HP:0100631)2.02838100
141Brushfield spots (HP:0001088)2.01539791
142Neoplasm of striated muscle (HP:0009728)2.00808275
143Dandy-Walker malformation (HP:0001305)2.00211842
144Preaxial foot polydactyly (HP:0001841)1.99811456
145Renal hypoplasia (HP:0000089)1.99464163
146Amyloidosis (HP:0011034)1.98900175
147Labial hypoplasia (HP:0000066)1.98859308
148Breast aplasia (HP:0100783)1.98078532
149Hypophosphatemic rickets (HP:0004912)1.97489763
150Short hallux (HP:0010109)1.96707421
151Opisthotonus (HP:0002179)1.96698773
152Multiple enchondromatosis (HP:0005701)1.96626411
153Abnormality of the preputium (HP:0100587)1.96588328
154Thrombophlebitis (HP:0004418)1.95775762
155Neoplasm of the small intestine (HP:0100833)1.92860619
156Menorrhagia (HP:0000132)1.91829705
157Hyperinsulinemic hypoglycemia (HP:0000825)1.90816139
158Abnormal cartilage morphology (HP:0002763)1.90310182
159Aplasia/Hypoplasia of the hallux (HP:0008362)1.90070340
160Myelomeningocele (HP:0002475)1.89801657
161Aplasia/Hypoplasia of the breasts (HP:0010311)1.89796515
162Confusion (HP:0001289)1.89743605
163Cutaneous finger syndactyly (HP:0010554)1.89721713
164Sloping forehead (HP:0000340)1.88096948
165Abnormal biliary tract physiology (HP:0012439)1.86970787
166Bile duct proliferation (HP:0001408)1.86970787
167Maternal diabetes (HP:0009800)1.86962482
168Broad foot (HP:0001769)1.86522171
169Gingival bleeding (HP:0000225)1.86515927
170Clitoromegaly (HP:0000057)1.86236675
171Abnormality of vitamin metabolism (HP:0100508)1.85399072
172Abnormality of alkaline phosphatase activity (HP:0004379)1.84460616
173Breast carcinoma (HP:0003002)1.84043432
174Nephrolithiasis (HP:0000787)1.84021480
175Gastrointestinal carcinoma (HP:0002672)1.83496636
176Malignant gastrointestinal tract tumors (HP:0006749)1.83496636
177Abnormality of the gallbladder (HP:0005264)1.83096147
178Renal cortical cysts (HP:0000803)1.83002623
179Status epilepticus (HP:0002133)1.81673521
180Abnormality of the clitoris (HP:0000056)1.81459109
181Anophthalmia (HP:0000528)1.81455513
182Preaxial hand polydactyly (HP:0001177)1.80820760
183Carpal bone hypoplasia (HP:0001498)1.80195488
184Cutaneous syndactyly (HP:0012725)1.79689657
185Rectal fistula (HP:0100590)1.77537043
186Rectovaginal fistula (HP:0000143)1.77537043
187Gonadotropin excess (HP:0000837)1.76305871
188Horseshoe kidney (HP:0000085)1.74331200
189Ovarian neoplasm (HP:0100615)1.73378587
190Genital tract atresia (HP:0001827)1.73046446
191Absent eyebrow (HP:0002223)1.73035168
192Skull defect (HP:0001362)1.72649055
193Vaginal atresia (HP:0000148)1.71331422

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.41964905
2FGFR44.15973139
3ERN14.01125040
4SIK14.00599275
5TNIK3.50266204
6MKNK23.40336648
7CDC73.36416396
8BUB13.17487636
9TTK3.16592892
10MKNK13.09889298
11TSSK62.98871943
12ZAK2.95645349
13ERBB42.86762391
14INSRR2.83397119
15TAOK32.78359873
16PLK32.59700111
17NUAK12.41553154
18SRPK12.40181007
19WNK42.35440601
20MST1R2.18534191
21TAF12.17873097
22WNK32.14016330
23MAP2K42.09200474
24LATS12.08415394
25CASK2.05880680
26PKN21.94793910
27PLK41.92682655
28TRIM281.89450551
29PBK1.85738962
30MAPK111.85437101
31STK38L1.83760388
32OXSR11.78331875
33TRIB31.73365173
34VRK21.73285146
35BMPR1B1.71961318
36PIK3CG1.61060660
37WEE11.60638911
38FLT31.60563046
39BRSK21.55880842
40FRK1.50444755
41ABL21.49201956
42ACVR1B1.47123536
43MAP4K21.46774542
44PLK11.42995035
45PTK61.41186611
46TYK21.36951118
47PINK11.33389301
48NEK91.30821904
49VRK11.29749076
50DYRK21.29139798
51NLK1.28372738
52MAP3K71.24678401
53DAPK21.22086522
54PNCK1.21990946
55STK161.20903087
56MST41.20438587
57FGFR21.20170695
58EIF2AK31.14769974
59ATR1.13562483
60PRKAA21.13460180
61FGFR11.13105054
62TGFBR11.12942047
63PASK1.12765113
64JAK21.10649247
65CDK191.09377499
66GRK61.09243675
67BRD41.08161562
68PLK21.05464278
69DYRK31.05092714
70KDR1.00187238
71CHEK20.96324299
72ATM0.94566530
73ERBB20.90054838
74MAP3K30.89209038
75MET0.89142362
76PRKCZ0.88279184
77ALK0.88096892
78MAP2K30.87054370
79PDK30.86172988
80PDK40.86172988
81EPHB10.85944842
82SGK30.85300724
83CAMK1G0.84589398
84MAP3K140.82136711
85SGK4940.81892131
86SGK2230.81892131
87MAP3K100.80144007
88MAPK40.79650499
89GSK3A0.79267088
90JAK10.79056373
91PRKAA10.78139996
92BCR0.77839119
93MAPK150.77307807
94MAP3K40.74874130
95TIE10.74614194
96TBK10.73620027
97CHEK10.71190460
98DYRK1B0.70934882
99SGK20.70826257
100STK390.70587591
101NEK20.70502171
102EIF2AK20.69687076
103PRKACG0.69342990
104MAPK120.69208091
105RPS6KA40.66806805
106CDK60.64866550
107PTK20.64597405
108AURKB0.63245504
109IRAK30.62423580
110YES10.61473402
111PRKDC0.61109792
112CSNK1G20.60133748
113MAP3K110.58783646
114BRSK10.58295878
115NEK10.57882621
116PDPK10.57575182
117CAMK2G0.56414443
118TGFBR20.56254299
119RIPK10.56148376
120CSK0.55242248
121STK240.55131878
122CAMK1D0.54829337
123EPHA30.54053874
124MAP2K60.53216341
125DMPK0.50583922
126STK380.50329528
127EIF2AK10.49281243
128MAP3K60.48687542
129CDK30.48607419
130CSNK1E0.48602202
131CDK10.48145478
132PDK20.47333942
133CSNK1G30.46194152
134PRKCE0.44357371
135FGFR30.44318308
136CSNK1G10.43885852
137CDK70.43609067
138NME10.43246241
139PRKCQ0.43073506
140CDK20.42730835
141MAPK70.41462318
142LATS20.40977221
143IGF1R0.39606905
144EPHA40.39264166
145DYRK1A0.38198188
146MAP3K50.37918709
147STK40.37159728
148CSNK1A1L0.37032625
149RET0.36646896
150ERBB30.36412967
151MAP2K10.36174603
152MTOR0.35438371
153PDK10.34863737
154CSF1R0.33730075
155MELK0.33450630
156GRK10.33172828
157CSNK2A10.32206440
158PRKCG0.31705877
159CSNK1D0.29947394
160IKBKE0.29586651
161MAP3K130.29586422
162CDK40.29320463
163MAP3K20.29063488
164CSNK2A20.28984304
165EGFR0.28184196
166IRAK20.26416637
167CSNK1A10.26206616
168TAOK20.25967133
169STK30.25265051
170PRKCA0.24715439
171PAK30.24650356
172IRAK10.23881789
173ICK0.23523922
174MAPK130.22808417
175GSK3B0.22786858
176OBSCN0.21215531
177DAPK10.20146812
178CLK10.20142038

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.26434221
2Non-homologous end-joining_Homo sapiens_hsa034503.84945433
3Nitrogen metabolism_Homo sapiens_hsa009103.51179714
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.44872632
5Mismatch repair_Homo sapiens_hsa034303.44769651
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.40206977
7DNA replication_Homo sapiens_hsa030303.13221053
8Arginine biosynthesis_Homo sapiens_hsa002203.00583133
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.75146038
10Tryptophan metabolism_Homo sapiens_hsa003802.70204585
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.60716613
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.60398598
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.55478073
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.53781425
15Fatty acid degradation_Homo sapiens_hsa000712.53331857
16Complement and coagulation cascades_Homo sapiens_hsa046102.48815748
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.37345383
18Butanoate metabolism_Homo sapiens_hsa006502.36271644
19Homologous recombination_Homo sapiens_hsa034402.35721609
20Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.30600311
21Peroxisome_Homo sapiens_hsa041462.17461003
22RNA transport_Homo sapiens_hsa030132.15170963
23Propanoate metabolism_Homo sapiens_hsa006402.14724563
24Proteasome_Homo sapiens_hsa030502.13359001
25Fanconi anemia pathway_Homo sapiens_hsa034602.08098518
26Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.03697689
27Cell cycle_Homo sapiens_hsa041101.95078430
28Base excision repair_Homo sapiens_hsa034101.94150640
29RNA polymerase_Homo sapiens_hsa030201.89113624
30Spliceosome_Homo sapiens_hsa030401.85242430
31Histidine metabolism_Homo sapiens_hsa003401.84034835
32Fatty acid metabolism_Homo sapiens_hsa012121.82955182
33Steroid hormone biosynthesis_Homo sapiens_hsa001401.82350681
34PPAR signaling pathway_Homo sapiens_hsa033201.81686967
35Chemical carcinogenesis_Homo sapiens_hsa052041.81547118
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.81288534
37Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.79061326
38beta-Alanine metabolism_Homo sapiens_hsa004101.78567927
39Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76543297
40RNA degradation_Homo sapiens_hsa030181.73693049
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.69860473
42Drug metabolism - other enzymes_Homo sapiens_hsa009831.67303502
43Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.65961279
44Basal transcription factors_Homo sapiens_hsa030221.64949527
45Retinol metabolism_Homo sapiens_hsa008301.58852180
46Selenocompound metabolism_Homo sapiens_hsa004501.57797405
47Caffeine metabolism_Homo sapiens_hsa002321.55064577
48Phenylalanine metabolism_Homo sapiens_hsa003601.54952369
49Bile secretion_Homo sapiens_hsa049761.52626543
50Nucleotide excision repair_Homo sapiens_hsa034201.51397999
51Pyruvate metabolism_Homo sapiens_hsa006201.51353198
52Staphylococcus aureus infection_Homo sapiens_hsa051501.51158512
53Sulfur metabolism_Homo sapiens_hsa009201.42434968
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.35419056
55Tyrosine metabolism_Homo sapiens_hsa003501.34448646
56Cysteine and methionine metabolism_Homo sapiens_hsa002701.33849702
57mRNA surveillance pathway_Homo sapiens_hsa030151.31946938
58Cyanoamino acid metabolism_Homo sapiens_hsa004601.31892930
59Starch and sucrose metabolism_Homo sapiens_hsa005001.29064013
60Protein export_Homo sapiens_hsa030601.28375371
61Biosynthesis of amino acids_Homo sapiens_hsa012301.25296725
62Fatty acid elongation_Homo sapiens_hsa000621.24859560
63Folate biosynthesis_Homo sapiens_hsa007901.21845109
64Carbon metabolism_Homo sapiens_hsa012001.21436817
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.17092696
66Basal cell carcinoma_Homo sapiens_hsa052171.16291584
67Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.15993775
68ABC transporters_Homo sapiens_hsa020101.10663302
69Steroid biosynthesis_Homo sapiens_hsa001001.10641335
70Fat digestion and absorption_Homo sapiens_hsa049751.06053926
71Arginine and proline metabolism_Homo sapiens_hsa003301.05924780
72Vitamin digestion and absorption_Homo sapiens_hsa049771.04842166
73Maturity onset diabetes of the young_Homo sapiens_hsa049501.01582448
74Purine metabolism_Homo sapiens_hsa002300.97008414
75Adherens junction_Homo sapiens_hsa045200.94731051
76Hippo signaling pathway_Homo sapiens_hsa043900.92018186
77Wnt signaling pathway_Homo sapiens_hsa043100.90299294
78Pyrimidine metabolism_Homo sapiens_hsa002400.90276568
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.89022235
80Sulfur relay system_Homo sapiens_hsa041220.86751888
81Vitamin B6 metabolism_Homo sapiens_hsa007500.85778064
82Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83711663
83Oocyte meiosis_Homo sapiens_hsa041140.83351960
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81140296
85Tight junction_Homo sapiens_hsa045300.79585522
86p53 signaling pathway_Homo sapiens_hsa041150.78211481
87* Lysine degradation_Homo sapiens_hsa003100.78189279
88Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76138330
89Hedgehog signaling pathway_Homo sapiens_hsa043400.75694912
90Glutathione metabolism_Homo sapiens_hsa004800.75646962
91Glycerolipid metabolism_Homo sapiens_hsa005610.74020873
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.72437685
93One carbon pool by folate_Homo sapiens_hsa006700.71886522
94Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.71352605
95TGF-beta signaling pathway_Homo sapiens_hsa043500.66654123
96Phototransduction_Homo sapiens_hsa047440.63420403
97Ether lipid metabolism_Homo sapiens_hsa005650.60192669
98Pentose phosphate pathway_Homo sapiens_hsa000300.57127346
99Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54469003
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53019481
101MicroRNAs in cancer_Homo sapiens_hsa052060.51501372
102* Metabolic pathways_Homo sapiens_hsa011000.47743883
103Fatty acid biosynthesis_Homo sapiens_hsa000610.45089100
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39813187
105Nicotine addiction_Homo sapiens_hsa050330.38611568
106Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34524235
107Colorectal cancer_Homo sapiens_hsa052100.31941990
108Taste transduction_Homo sapiens_hsa047420.31848658
109Huntingtons disease_Homo sapiens_hsa050160.31530456
110Fructose and mannose metabolism_Homo sapiens_hsa000510.30760645
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.29650210
112Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.28936089
113Thyroid cancer_Homo sapiens_hsa052160.28084994
114Prion diseases_Homo sapiens_hsa050200.25673821
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.25434010
116alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.24838784
117Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24189829
118Galactose metabolism_Homo sapiens_hsa000520.23175619
119Insulin resistance_Homo sapiens_hsa049310.22029966
120Adipocytokine signaling pathway_Homo sapiens_hsa049200.20363416
121Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18879887
122Linoleic acid metabolism_Homo sapiens_hsa005910.15874000
123Glycerophospholipid metabolism_Homo sapiens_hsa005640.11997800
124Glucagon signaling pathway_Homo sapiens_hsa049220.08413385
125AMPK signaling pathway_Homo sapiens_hsa041520.02425502
126Bladder cancer_Homo sapiens_hsa05219-0.2231336
127Lysosome_Homo sapiens_hsa04142-0.2057744
128Other glycan degradation_Homo sapiens_hsa00511-0.2031747
129Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2008318
130Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1842171
131Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1767382
132Hepatitis C_Homo sapiens_hsa05160-0.1755489
133Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1742082
134Mineral absorption_Homo sapiens_hsa04978-0.1395569
135Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1331489
136Insulin signaling pathway_Homo sapiens_hsa04910-0.1232565
137Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1196839
138Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1196354
139Regulation of autophagy_Homo sapiens_hsa04140-0.1195840
140Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1119710
141Protein digestion and absorption_Homo sapiens_hsa04974-0.0998632
142Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0943983
143Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0862470
144Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0786563
145Renin-angiotensin system_Homo sapiens_hsa04614-0.0761972
146Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0554845

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