FADS1

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





Description: The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.59465621
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.59465621
3* alpha-linolenic acid metabolic process (GO:0036109)6.34300763
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.29854313
5L-phenylalanine metabolic process (GO:0006558)6.29854313
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.16392472
7aromatic amino acid family catabolic process (GO:0009074)5.80139263
8bile acid biosynthetic process (GO:0006699)5.37951021
9high-density lipoprotein particle remodeling (GO:0034375)5.35470887
10kynurenine metabolic process (GO:0070189)5.23504407
11glyoxylate metabolic process (GO:0046487)5.13410292
12negative regulation of fibrinolysis (GO:0051918)5.11273115
13indole-containing compound catabolic process (GO:0042436)5.11173790
14indolalkylamine catabolic process (GO:0046218)5.11173790
15tryptophan catabolic process (GO:0006569)5.11173790
16sulfur amino acid catabolic process (GO:0000098)4.98926520
17urea cycle (GO:0000050)4.98164311
18urea metabolic process (GO:0019627)4.98164311
19reverse cholesterol transport (GO:0043691)4.87090172
20protein carboxylation (GO:0018214)4.80966017
21peptidyl-glutamic acid carboxylation (GO:0017187)4.80966017
22tryptophan metabolic process (GO:0006568)4.80221888
23cysteine metabolic process (GO:0006534)4.77901077
24regulation of fibrinolysis (GO:0051917)4.76287459
25regulation of protein activation cascade (GO:2000257)4.63924089
26regulation of cholesterol esterification (GO:0010872)4.59302458
27bile acid metabolic process (GO:0008206)4.58799081
28protein-lipid complex remodeling (GO:0034368)4.58643217
29macromolecular complex remodeling (GO:0034367)4.58643217
30plasma lipoprotein particle remodeling (GO:0034369)4.58643217
31complement activation, alternative pathway (GO:0006957)4.57525448
32negative regulation of cholesterol transport (GO:0032375)4.55140184
33negative regulation of sterol transport (GO:0032372)4.55140184
34serine family amino acid catabolic process (GO:0009071)4.54858768
35nitrogen cycle metabolic process (GO:0071941)4.51216503
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.37953804
37regulation of triglyceride catabolic process (GO:0010896)4.37478781
38lysine catabolic process (GO:0006554)4.36349411
39lysine metabolic process (GO:0006553)4.36349411
40regulation of complement activation (GO:0030449)4.31724087
41cellular ketone body metabolic process (GO:0046950)4.31604119
42homocysteine metabolic process (GO:0050667)4.29087239
43glutamate metabolic process (GO:0006536)4.27088045
44cholesterol biosynthetic process (GO:0006695)4.26878005
45dicarboxylic acid biosynthetic process (GO:0043650)4.25579291
46plasma lipoprotein particle clearance (GO:0034381)4.22638205
47phospholipid efflux (GO:0033700)4.20920304
48nuclear pore complex assembly (GO:0051292)4.18923683
49alpha-amino acid catabolic process (GO:1901606)4.18779626
50acylglycerol homeostasis (GO:0055090)4.14335444
51triglyceride homeostasis (GO:0070328)4.14335444
52tyrosine metabolic process (GO:0006570)4.13967821
53cellular modified amino acid catabolic process (GO:0042219)4.13743574
54aromatic amino acid family metabolic process (GO:0009072)4.13216384
55amino-acid betaine metabolic process (GO:0006577)4.12764236
56cholesterol efflux (GO:0033344)4.01332360
57ethanol oxidation (GO:0006069)4.00144328
58DNA unwinding involved in DNA replication (GO:0006268)3.97903447
59regulation of cholesterol homeostasis (GO:2000188)3.97884532
60low-density lipoprotein particle remodeling (GO:0034374)3.93866916
61cellular amino acid catabolic process (GO:0009063)3.92931924
62glycine metabolic process (GO:0006544)3.88392936
63coenzyme catabolic process (GO:0009109)3.87771547
64plasma lipoprotein particle assembly (GO:0034377)3.85005874
65cellular glucuronidation (GO:0052695)3.81686522
66benzene-containing compound metabolic process (GO:0042537)3.80391050
67positive regulation of fatty acid beta-oxidation (GO:0032000)3.80376567
68positive regulation of lipid catabolic process (GO:0050996)3.77616293
69ketone body metabolic process (GO:1902224)3.74861765
70bile acid and bile salt transport (GO:0015721)3.73690362
71nuclear pore organization (GO:0006999)3.72196963
72serine family amino acid biosynthetic process (GO:0009070)3.71227613
73serine family amino acid metabolic process (GO:0009069)3.70055307
74regulation of translational fidelity (GO:0006450)3.68215443
75sterol biosynthetic process (GO:0016126)3.67990694
76drug catabolic process (GO:0042737)3.62476571
77acetyl-CoA metabolic process (GO:0006084)3.60650434
78arginine metabolic process (GO:0006525)3.60184775
79regulation of cholesterol biosynthetic process (GO:0045540)3.57588930
80very-low-density lipoprotein particle assembly (GO:0034379)3.57419628
81phospholipid homeostasis (GO:0055091)3.56629111
82DNA replication checkpoint (GO:0000076)3.56309216
83DNA strand elongation involved in DNA replication (GO:0006271)3.56121443
84short-chain fatty acid metabolic process (GO:0046459)3.54477754
85indolalkylamine metabolic process (GO:0006586)3.54359916
86imidazole-containing compound metabolic process (GO:0052803)3.54113029
87plasma lipoprotein particle organization (GO:0071827)3.52814331
88protein-lipid complex assembly (GO:0065005)3.52078187
89L-serine metabolic process (GO:0006563)3.51096037
90regulation of fatty acid beta-oxidation (GO:0031998)3.44078545
91negative regulation of lipase activity (GO:0060192)3.43913985
92* linoleic acid metabolic process (GO:0043651)3.43697763
93DNA strand elongation (GO:0022616)3.42641584
94fibrinolysis (GO:0042730)3.39622882
95positive regulation of triglyceride metabolic process (GO:0090208)3.38557469
96biotin metabolic process (GO:0006768)3.38362028
97amine catabolic process (GO:0009310)3.37674616
98cellular biogenic amine catabolic process (GO:0042402)3.37674616
99DNA topological change (GO:0006265)3.37289279
100cholesterol homeostasis (GO:0042632)3.36753525
101carboxylic acid catabolic process (GO:0046395)3.36351429
102organic acid catabolic process (GO:0016054)3.36351429
103protein-lipid complex subunit organization (GO:0071825)3.35771903
104aspartate family amino acid catabolic process (GO:0009068)3.33229336
105lipoprotein metabolic process (GO:0042157)3.32575998
106sterol homeostasis (GO:0055092)3.32316709
107positive regulation of triglyceride lipase activity (GO:0061365)3.31663686
108positive regulation of lipoprotein lipase activity (GO:0051006)3.31663686
109sterol catabolic process (GO:0016127)3.30828271
110cholesterol catabolic process (GO:0006707)3.30828271
111mitotic sister chromatid segregation (GO:0000070)3.30822718
112very long-chain fatty acid metabolic process (GO:0000038)3.30540908
113glucuronate metabolic process (GO:0019585)3.29845616
114sister chromatid segregation (GO:0000819)3.27538416
115long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.25191513
116fatty-acyl-CoA biosynthetic process (GO:0046949)3.20407806
117daunorubicin metabolic process (GO:0044597)3.11787490
118polyketide metabolic process (GO:0030638)3.11787490
119doxorubicin metabolic process (GO:0044598)3.11787490
120telomere maintenance via semi-conservative replication (GO:0032201)3.10457776
121acyl-CoA biosynthetic process (GO:0071616)3.10344096
122thioester biosynthetic process (GO:0035384)3.10344096
123mitotic chromosome condensation (GO:0007076)3.04575288
124pore complex assembly (GO:0046931)3.04390804
125DNA replication initiation (GO:0006270)3.04050154
126isoprenoid biosynthetic process (GO:0008299)2.95090832
127protein localization to kinetochore (GO:0034501)2.95032556
128long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.94777454
129purine nucleobase biosynthetic process (GO:0009113)2.86824356
130kinetochore organization (GO:0051383)2.80729042
131fatty acid homeostasis (GO:0055089)2.79941683
132establishment of integrated proviral latency (GO:0075713)2.79340335
133protein localization to chromosome, centromeric region (GO:0071459)2.79179109
134fatty-acyl-CoA metabolic process (GO:0035337)2.77148395
135heterochromatin organization (GO:0070828)2.76752810
136tetrahydrofolate metabolic process (GO:0046653)2.76131247
137midgut development (GO:0007494)2.72940200
138regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.72686557
139chromatin remodeling at centromere (GO:0031055)2.70657557
140aminoglycoside antibiotic metabolic process (GO:0030647)2.69546237
141mitotic nuclear envelope disassembly (GO:0007077)2.69119450
142nucleobase biosynthetic process (GO:0046112)2.66562120
143CENP-A containing nucleosome assembly (GO:0034080)2.65602955
144negative regulation of fatty acid biosynthetic process (GO:0045717)2.62198927
145DNA strand renaturation (GO:0000733)2.61325628
146coenzyme A metabolic process (GO:0015936)2.61215516
147mitotic metaphase plate congression (GO:0007080)2.59685880
148mitotic recombination (GO:0006312)2.59454336
149regulation of centriole replication (GO:0046599)2.59296216
150tRNA aminoacylation for protein translation (GO:0006418)2.58882696
151low-density lipoprotein particle clearance (GO:0034383)2.56071980
152coenzyme A biosynthetic process (GO:0015937)2.55883927
153telomere maintenance via recombination (GO:0000722)2.54957756
154amino acid activation (GO:0043038)2.53566199
155tRNA aminoacylation (GO:0043039)2.53566199
156meiotic chromosome segregation (GO:0045132)2.53098157
157proline biosynthetic process (GO:0006561)2.50042336
158nuclear envelope disassembly (GO:0051081)2.49057251
159membrane disassembly (GO:0030397)2.49057251
160tricarboxylic acid metabolic process (GO:0072350)2.45964221
161microtubule depolymerization (GO:0007019)2.44598689
162folic acid metabolic process (GO:0046655)2.42098257
163regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.41977771
164regulation of mitotic spindle organization (GO:0060236)2.40777843
165regulation of translational elongation (GO:0006448)2.38011586
166nucleotide-excision repair, DNA gap filling (GO:0006297)2.37911675
167resolution of meiotic recombination intermediates (GO:0000712)2.37692488
168kinetochore assembly (GO:0051382)2.37435497
169DNA replication-independent nucleosome organization (GO:0034724)2.36013802
170DNA replication-independent nucleosome assembly (GO:0006336)2.36013802
171regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.34788554
172metaphase plate congression (GO:0051310)2.30816695
173paraxial mesoderm development (GO:0048339)2.29588182
174thioester metabolic process (GO:0035383)2.28305548
175acyl-CoA metabolic process (GO:0006637)2.28305548
176triglyceride biosynthetic process (GO:0019432)2.27543316
177chromosome segregation (GO:0007059)2.25952200
178double-strand break repair via nonhomologous end joining (GO:0006303)2.25397257
179non-recombinational repair (GO:0000726)2.25397257
180fatty acid elongation (GO:0030497)2.24034970
181DNA ligation (GO:0006266)2.23705819
182ATP-dependent chromatin remodeling (GO:0043044)2.22355813
183IMP biosynthetic process (GO:0006188)2.21526211
184chromosome condensation (GO:0030261)2.19820292
185folic acid-containing compound metabolic process (GO:0006760)2.19087337
186neutral lipid biosynthetic process (GO:0046460)2.16953592
187acylglycerol biosynthetic process (GO:0046463)2.16953592
188histone exchange (GO:0043486)2.16500030
189regulation of centrosome cycle (GO:0046605)2.16475955
190terpenoid biosynthetic process (GO:0016114)2.15332341
191folic acid-containing compound biosynthetic process (GO:0009396)2.14655106
192telomere maintenance via telomere lengthening (GO:0010833)2.13752234
193DNA duplex unwinding (GO:0032508)2.13607761

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.52949564
2* RXR_22158963_ChIP-Seq_LIVER_Mouse7.17912080
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.08582279
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.67301044
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.97279909
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.78654321
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.46861467
8FOXM1_23109430_ChIP-Seq_U2OS_Human4.22966327
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.73743597
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.61914826
11MYC_18555785_ChIP-Seq_MESCs_Mouse3.61446666
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.53453261
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.93688608
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.92647626
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.76656556
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.63408274
17AR_21909140_ChIP-Seq_LNCAP_Human2.55629310
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.47992178
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.45532579
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.42613009
21MYC_19079543_ChIP-ChIP_MESCs_Mouse2.33642917
22XRN2_22483619_ChIP-Seq_HELA_Human2.33279609
23MYC_19030024_ChIP-ChIP_MESCs_Mouse2.31042573
24MYC_18358816_ChIP-ChIP_MESCs_Mouse2.29905662
25CLOCK_20551151_ChIP-Seq_293T_Human2.23809195
26SALL1_21062744_ChIP-ChIP_HESCs_Human2.21289135
27KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.20730711
28THAP11_20581084_ChIP-Seq_MESCs_Mouse2.15442946
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.07886335
30MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.04830062
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.04169732
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.02698246
33ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.1912997
34EST1_17652178_ChIP-ChIP_JURKAT_Human1.97574614
35JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.97493911
36E2F1_21310950_ChIP-Seq_MCF-7_Human1.96714791
37ESR1_15608294_ChIP-ChIP_MCF-7_Human1.93252002
38MYCN_18555785_ChIP-Seq_MESCs_Mouse1.93108175
39ETS1_20019798_ChIP-Seq_JURKAT_Human1.90348606
40TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.85148409
41TTF2_22483619_ChIP-Seq_HELA_Human1.84968991
42GABP_17652178_ChIP-ChIP_JURKAT_Human1.82719726
43E2F1_18555785_ChIP-Seq_MESCs_Mouse1.80165810
44PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.80069624
45MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.80015673
46POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.75100231
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.74725896
48FOXA2_19822575_ChIP-Seq_HepG2_Human1.71412559
49* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.70884432
50ELK1_19687146_ChIP-ChIP_HELA_Human1.69497326
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.65772390
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.64446180
53E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62716296
54ZFX_18555785_ChIP-Seq_MESCs_Mouse1.62060212
55DCP1A_22483619_ChIP-Seq_HELA_Human1.59386545
56RARG_19884340_ChIP-ChIP_MEFs_Mouse1.57850538
57WT1_19549856_ChIP-ChIP_CCG9911_Human1.54299392
58ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.53856560
59PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51784117
60HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.48052698
61PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.42908066
62NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.40855297
63SOX2_18555785_ChIP-Seq_MESCs_Mouse1.39334924
64ERG_21242973_ChIP-ChIP_JURKAT_Human1.38561511
65NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37674294
66* GABP_19822575_ChIP-Seq_HepG2_Human1.37078158
67POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.35710199
68ESR2_21235772_ChIP-Seq_MCF-7_Human1.31487981
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.31380411
70STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.31245301
71PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30977894
72CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.27967506
73HNF4A_19822575_ChIP-Seq_HepG2_Human1.25963470
74SOX2_16153702_ChIP-ChIP_HESCs_Human1.25480995
75PADI4_21655091_ChIP-ChIP_MCF-7_Human1.23854701
76KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.22026843
77CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.20884881
78ZNF263_19887448_ChIP-Seq_K562_Human1.20062760
79SRF_21415370_ChIP-Seq_HL-1_Mouse1.17070577
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16612242
81NANOG_21062744_ChIP-ChIP_HESCs_Human1.16564144
82FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.14740699
83GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.13566670
84NANOG_16153702_ChIP-ChIP_HESCs_Human1.12728174
85NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.11031211
86BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.10328249
87SOX17_20123909_ChIP-Seq_XEN_Mouse1.10123720
88* LXR_22292898_ChIP-Seq_THP-1_Human1.09871626
89SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.09804892
90* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.09186841
91POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.08033087
92HTT_18923047_ChIP-ChIP_STHdh_Human1.07622032
93DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.06250886
94FOXP3_21729870_ChIP-Seq_TREG_Human1.04471373
95MYC_18940864_ChIP-ChIP_HL60_Human1.04299060
96KDM5A_27292631_Chip-Seq_BREAST_Human1.03755324
97DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.03315827
98TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.00937327
99ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.98391512
100ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.97824544
101PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96128178
102ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95835426
103TP63_19390658_ChIP-ChIP_HaCaT_Human0.95581357
104TRIM28_21343339_ChIP-Seq_HEK293_Human0.95158686
105CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.94480101
106ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94132216
107* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.94121685
108YY1_21170310_ChIP-Seq_MESCs_Mouse0.92425064
109CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92030448
110HIF1A_21447827_ChIP-Seq_MCF-7_Human0.90387127
111TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90140370
112SOX2_27498859_Chip-Seq_STOMACH_Mouse0.88669242
113ESR1_20079471_ChIP-ChIP_T-47D_Human0.88660435
114ESR1_21235772_ChIP-Seq_MCF-7_Human0.87270853
115* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.87002350
116SOX9_26525672_Chip-Seq_HEART_Mouse0.85380290
117ZFP281_18757296_ChIP-ChIP_E14_Mouse0.84425632
118* RXRA_24833708_ChIP-Seq_LIVER_Mouse0.84401614
119EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.84215752
120NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.83238230
121NRF2_20460467_ChIP-Seq_MEFs_Mouse0.83238230
122NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.82815068
123SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.82666122
124HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.82250678
125* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.82199500
126CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.80947047
127* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.80797037
128SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.80360604
129* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80030815
130ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.79987285
131* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.79930343
132AR_21572438_ChIP-Seq_LNCaP_Human0.79500143
133MTF2_20144788_ChIP-Seq_MESCs_Mouse0.78974401
134CHD1_26751641_Chip-Seq_LNCaP_Human0.78760620
135NCOR1_26117541_ChIP-Seq_K562_Human0.77679591
136EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.77593920
137DROSHA_22980978_ChIP-Seq_HELA_Human0.77533165
138HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.77375206
139VDR_23849224_ChIP-Seq_CD4+_Human0.77145328
140SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75513955
141EZH2_18974828_ChIP-Seq_MESCs_Mouse0.75048774
142RNF2_18974828_ChIP-Seq_MESCs_Mouse0.75048774
143CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.74925378
144POU5F1_16153702_ChIP-ChIP_HESCs_Human0.74913025
145SALL4_18804426_ChIP-ChIP_XEN_Mouse0.74908913
146ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.74573547
147SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.74500162
148KDM2B_26808549_Chip-Seq_K562_Human0.73295677
149NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.71507247
150CREB1_26743006_Chip-Seq_LNCaP_Human0.68166438
151GATA1_22025678_ChIP-Seq_K562_Human0.68031205
152EED_16625203_ChIP-ChIP_MESCs_Mouse0.66701298
153ZNF217_24962896_ChIP-Seq_MCF-7_Human0.65432878
154JARID2_20075857_ChIP-Seq_MESCs_Mouse0.64628415
155* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.63716614
156AUTS2_25519132_ChIP-Seq_293T-REX_Human0.62412012
157RACK7_27058665_Chip-Seq_MCF-7_Human0.62262460
158P300_27058665_Chip-Seq_ZR-75-30cells_Human0.62152892
159STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.62115589
160GATA4_25053715_ChIP-Seq_YYC3_Human0.61222448
161WT1_25993318_ChIP-Seq_PODOCYTE_Human0.60691394
162FOXO3_23340844_ChIP-Seq_DLD1_Human0.60378871
163NFIB_24661679_ChIP-Seq_LUNG_Mouse0.60072177
164SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.59886471
165GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.59767049
166SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.59402366
167RAD21_21589869_ChIP-Seq_MESCs_Mouse0.59304851
168GATA1_19941826_ChIP-Seq_K562_Human0.58732997
169PPAR_26484153_Chip-Seq_NCI-H1993_Human0.58420604
170* RARA_24833708_ChIP-Seq_LIVER_Mouse0.58085548
171TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.57677515
172SMAD4_21741376_ChIP-Seq_HESCs_Human0.57442755
173SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.56831636
174MYC_27129775_Chip-Seq_CORNEA_Mouse0.55976960
175NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.55749666
176SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.55630058
177BCAT_22108803_ChIP-Seq_LS180_Human0.54609417
178RARB_27405468_Chip-Seq_BRAIN_Mouse0.53813230
179SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.53694744
180* REST_18959480_ChIP-ChIP_MESCs_Mouse0.53335034
181DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.52907308
182TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.52546985
183SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.52209301
184RXR_22108803_ChIP-Seq_LS180_Human0.52061123
185KLF4_19829295_ChIP-Seq_ESCs_Human0.52034257
186CDX2_20551321_ChIP-Seq_CACO-2_Human0.51636869

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.27800249
2MP0005360_urolithiasis6.98450908
3MP0005085_abnormal_gallbladder_physiolo6.00452199
4MP0005365_abnormal_bile_salt5.81261063
5MP0008875_abnormal_xenobiotic_pharmacok4.72793855
6MP0010329_abnormal_lipoprotein_level3.73160591
7MP0003252_abnormal_bile_duct3.72549328
8MP0005083_abnormal_biliary_tract3.40407812
9MP0009840_abnormal_foam_cell3.36036131
10MP0003806_abnormal_nucleotide_metabolis3.30050858
11MP0005332_abnormal_amino_acid2.61053404
12MP0003111_abnormal_nucleus_morphology2.50814206
13MP0010094_abnormal_chromosome_stability2.50533493
14MP0001666_abnormal_nutrient_absorption2.37885986
15MP0003890_abnormal_embryonic-extraembry2.32442240
16MP0008932_abnormal_embryonic_tissue2.30617822
17MP0003195_calcinosis2.28505755
18MP0004957_abnormal_blastocyst_morpholog2.22050510
19MP0001529_abnormal_vocalization2.18408582
20MP0003705_abnormal_hypodermis_morpholog2.17765767
21MP0002118_abnormal_lipid_homeostasis2.17212638
22MP0010030_abnormal_orbit_morphology2.17195327
23MP0003693_abnormal_embryo_hatching2.16147595
24MP0003191_abnormal_cellular_cholesterol2.01442839
25MP0004019_abnormal_vitamin_homeostasis2.00065255
26MP0000609_abnormal_liver_physiology1.98516783
27MP0003122_maternal_imprinting1.98352322
28MP0008058_abnormal_DNA_repair1.96317268
29MP0006292_abnormal_olfactory_placode1.93337707
30MP0003868_abnormal_feces_composition1.76819036
31MP0002938_white_spotting1.75407885
32MP0003077_abnormal_cell_cycle1.71790178
33MP0003937_abnormal_limbs/digits/tail_de1.69204525
34MP0005319_abnormal_enzyme/_coenzyme1.66845159
35MP0004147_increased_porphyrin_level1.57779129
36MP0008057_abnormal_DNA_replication1.55289008
37MP0005584_abnormal_enzyme/coenzyme_acti1.55092430
38MP0001293_anophthalmia1.54588230
39MP0000566_synostosis1.53207402
40MP0008007_abnormal_cellular_replicative1.50505015
41MP0003385_abnormal_body_wall1.49159642
42MP0003011_delayed_dark_adaptation1.44891772
43MP0002697_abnormal_eye_size1.43892898
44MP0000778_abnormal_nervous_system1.41231747
45MP0000604_amyloidosis1.37627724
46MP0003329_amyloid_beta_deposits1.36220969
47MP0003121_genomic_imprinting1.34884512
48MP0003942_abnormal_urinary_system1.32544994
49MP0002138_abnormal_hepatobiliary_system1.31586293
50MP0003718_maternal_effect1.31526407
51MP0004272_abnormal_basement_membrane1.31140531
52MP0002084_abnormal_developmental_patter1.27251795
53MP0003690_abnormal_glial_cell1.25188503
54MP0003567_abnormal_fetal_cardiomyocyte1.25020106
55MP0005380_embryogenesis_phenotype1.24954409
56MP0001672_abnormal_embryogenesis/_devel1.24954409
57MP0001299_abnormal_eye_distance/1.24908627
58MP0003119_abnormal_digestive_system1.18851207
59MP0001730_embryonic_growth_arrest1.18504490
60MP0001697_abnormal_embryo_size1.17392010
61MP0002233_abnormal_nose_morphology1.16526884
62MP0005394_taste/olfaction_phenotype1.16418073
63MP0005499_abnormal_olfactory_system1.16418073
64MP0008789_abnormal_olfactory_epithelium1.15638147
65MP0002085_abnormal_embryonic_tissue1.15337547
66MP0001286_abnormal_eye_development1.15264124
67MP0003984_embryonic_growth_retardation1.14693357
68MP0005647_abnormal_sex_gland1.13541429
69MP0004197_abnormal_fetal_growth/weight/1.11368008
70MP0002088_abnormal_embryonic_growth/wei1.10107309
71MP0000647_abnormal_sebaceous_gland1.09546448
72MP0002254_reproductive_system_inflammat1.08744142
73MP0004130_abnormal_muscle_cell1.08283865
74MP0003941_abnormal_skin_development1.08192716
75MP0009703_decreased_birth_body1.08049657
76MP0010368_abnormal_lymphatic_system1.07737876
77MP0003861_abnormal_nervous_system1.07202576
78MP0003656_abnormal_erythrocyte_physiolo1.04529451
79MP0000350_abnormal_cell_proliferation1.04513429
80MP0002080_prenatal_lethality1.04099319
81MP0001764_abnormal_homeostasis1.04014613
82MP0000598_abnormal_liver_morphology1.04000332
83MP0004133_heterotaxia1.03893502
84MP0002111_abnormal_tail_morphology1.03398827
85MP0004233_abnormal_muscle_weight1.03386093
86MP0003123_paternal_imprinting1.01770596
87MP0000428_abnormal_craniofacial_morphol0.99925278
88MP0002092_abnormal_eye_morphology0.98922339
89MP0000639_abnormal_adrenal_gland0.98721844
90MP0005171_absent_coat_pigmentation0.98617729
91MP0009643_abnormal_urine_homeostasis0.98306568
92MP0009697_abnormal_copulation0.95395010
93MP0009780_abnormal_chondrocyte_physiolo0.94911593
94MP0000049_abnormal_middle_ear0.94816304
95MP0008995_early_reproductive_senescence0.94281364
96MP0009053_abnormal_anal_canal0.94137635
97MP0003755_abnormal_palate_morphology0.93918053
98MP0006276_abnormal_autonomic_nervous0.91389775
99MP0002234_abnormal_pharynx_morphology0.91198709
100MP0003136_yellow_coat_color0.91075712
101MP0005391_vision/eye_phenotype0.88093320
102MP0003935_abnormal_craniofacial_develop0.88060567
103MP0006035_abnormal_mitochondrial_morpho0.85418876
104MP0003959_abnormal_lean_body0.83473665
105MP0001881_abnormal_mammary_gland0.83271671
106MP0004858_abnormal_nervous_system0.82959287
107MP0003075_altered_response_to0.81731065
108MP0003186_abnormal_redox_activity0.81383845
109MP0005670_abnormal_white_adipose0.81178266
110MP0009384_cardiac_valve_regurgitation0.80660377
111MP0002078_abnormal_glucose_homeostasis0.80264222
112MP0003786_premature_aging0.79439580
113MP0000631_abnormal_neuroendocrine_gland0.75819239
114MP0002210_abnormal_sex_determination0.75658498
115MP0009642_abnormal_blood_homeostasis0.75586165
116MP0002081_perinatal_lethality0.75095206
117MP0003938_abnormal_ear_development0.74598074
118MP0004859_abnormal_synaptic_plasticity0.74297687
119MP0004185_abnormal_adipocyte_glucose0.73589789
120MP0008438_abnormal_cutaneous_collagen0.73200604
121MP0002971_abnormal_brown_adipose0.72942698
122MP0006072_abnormal_retinal_apoptosis0.72941599
123MP0001915_intracranial_hemorrhage0.72607168
124MP0003300_gastrointestinal_ulcer0.72384360
125MP0005636_abnormal_mineral_homeostasis0.72383022
126MP0002822_catalepsy0.71349219
127MP0002152_abnormal_brain_morphology0.71228294
128MP0005334_abnormal_fat_pad0.70774940
129MP0003315_abnormal_perineum_morphology0.70335342
130MP0000955_abnormal_spinal_cord0.70057047
131MP0005253_abnormal_eye_physiology0.69560635
132MP0002090_abnormal_vision0.69543928
133MP0002086_abnormal_extraembryonic_tissu0.69455877
134MP0009763_increased_sensitivity_to0.69311901
135MP0009764_decreased_sensitivity_to0.68666141
136MP0005220_abnormal_exocrine_pancreas0.68133631
137MP0002909_abnormal_adrenal_gland0.68025536
138MP0000358_abnormal_cell_content/0.67181258
139MP0005248_abnormal_Harderian_gland0.66419094
140MP0005448_abnormal_energy_balance0.65506280
141MP0005535_abnormal_body_temperature0.65125382
142MP0005451_abnormal_body_composition0.62168224
143MP0005167_abnormal_blood-brain_barrier0.61525780
144MP0001756_abnormal_urination0.59821565
145MP0005187_abnormal_penis_morphology0.59288088
146MP0005376_homeostasis/metabolism_phenot0.57567284
147MP0004883_abnormal_blood_vessel0.57303030
148MP0003953_abnormal_hormone_level0.54676613
149MP0008961_abnormal_basal_metabolism0.54566630
150MP0005084_abnormal_gallbladder_morpholo0.51639308
151MP0009672_abnormal_birth_weight0.51143888
152MP0005666_abnormal_adipose_tissue0.50189761
153MP0002168_other_aberrant_phenotype0.49826511
154MP0010234_abnormal_vibrissa_follicle0.49714292
155MP0008872_abnormal_physiological_respon0.48657839
156MP0008874_decreased_physiological_sensi0.48328382
157MP0003638_abnormal_response/metabolism_0.48116643
158MP0003633_abnormal_nervous_system0.47719752
159MP0009765_abnormal_xenobiotic_induced0.47406857
160MP0001177_atelectasis0.47336680
161MP0002876_abnormal_thyroid_physiology0.45229513
162MP0005408_hypopigmentation0.45041731
163MP0005646_abnormal_pituitary_gland0.44453413
164MP0001661_extended_life_span0.44132047
165MP0005166_decreased_susceptibility_to0.42012991
166MP0005595_abnormal_vascular_smooth0.41327377
167MP0002928_abnormal_bile_duct0.40814649
168MP0008469_abnormal_protein_level0.40531318
169MP0002089_abnormal_postnatal_growth/wei0.40088012
170MP0003632_abnormal_nervous_system0.39506592
171MP0005395_other_phenotype0.39099406
172MP0002069_abnormal_eating/drinking_beha0.38283256
173MP0002249_abnormal_larynx_morphology0.37227077
174MP0004885_abnormal_endolymph0.37061050
175MP0005266_abnormal_metabolism0.36841449
176MP0003631_nervous_system_phenotype0.36577853
177MP0002970_abnormal_white_adipose0.36561040
178MP0009115_abnormal_fat_cell0.35886275
179MP0002295_abnormal_pulmonary_circulatio0.33501390
180MP0003115_abnormal_respiratory_system0.33431947

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.36661013
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.49652288
3Intrahepatic cholestasis (HP:0001406)6.45260994
4Xanthomatosis (HP:0000991)6.05732844
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.91245159
6Hypobetalipoproteinemia (HP:0003563)5.87733762
7Prolonged partial thromboplastin time (HP:0003645)5.45534629
8Hyperlipoproteinemia (HP:0010980)5.31232728
9Complement deficiency (HP:0004431)4.79637154
10Hypolipoproteinemia (HP:0010981)4.55650390
11Epidermoid cyst (HP:0200040)4.46054188
12Abnormality of glycolysis (HP:0004366)4.26628104
13Increased serum pyruvate (HP:0003542)4.26391901
14Hyperammonemia (HP:0001987)4.26168243
15Hyperglycinemia (HP:0002154)4.22379553
16Ketosis (HP:0001946)4.18325931
17Hypoalphalipoproteinemia (HP:0003233)4.17053430
18Cortical dysplasia (HP:0002539)4.15388507
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.06400590
20Abnormality of the common coagulation pathway (HP:0010990)3.95696793
21Joint hemorrhage (HP:0005261)3.85814916
22Abnormality of sulfur amino acid metabolism (HP:0004339)3.83930829
23Abnormality of glycine metabolism (HP:0010895)3.78534196
24Abnormality of serine family amino acid metabolism (HP:0010894)3.78534196
25Abnormality of glutamine family amino acid metabolism (HP:0010902)3.77644400
26Hyperglycinuria (HP:0003108)3.64383798
27Hypercholesterolemia (HP:0003124)3.54918648
28Abnormality of methionine metabolism (HP:0010901)3.49896707
29Hypoglycemic coma (HP:0001325)3.45684788
30Fat malabsorption (HP:0002630)3.44543649
31Abnormality of the intrinsic pathway (HP:0010989)3.41240570
32Abnormality of complement system (HP:0005339)3.40786672
33Abnormality of aspartate family amino acid metabolism (HP:0010899)3.39671131
34Chromsome breakage (HP:0040012)3.22768181
35Chromosomal breakage induced by crosslinking agents (HP:0003221)3.17098366
36Ketoacidosis (HP:0001993)3.16748277
37Delayed CNS myelination (HP:0002188)3.15042223
38Abnormality of pyrimidine metabolism (HP:0004353)2.96517118
39Hyperbilirubinemia (HP:0002904)2.96421490
40Increased nuchal translucency (HP:0010880)2.93458517
41Skin nodule (HP:0200036)2.91383583
42Conjugated hyperbilirubinemia (HP:0002908)2.88499493
43Spastic diplegia (HP:0001264)2.83101716
44Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.80309627
45Hepatocellular carcinoma (HP:0001402)2.78292316
46Abnormality of fatty-acid metabolism (HP:0004359)2.70243544
47Myocardial infarction (HP:0001658)2.68269851
48Abnormality of nucleobase metabolism (HP:0010932)2.67399205
49Mitral stenosis (HP:0001718)2.59679978
50Abnormality of serum amino acid levels (HP:0003112)2.59195947
51Overlapping toe (HP:0001845)2.53899585
52Birth length less than 3rd percentile (HP:0003561)2.53734992
53Abnormality of purine metabolism (HP:0004352)2.52840248
54Neonatal onset (HP:0003623)2.52000895
55Spontaneous abortion (HP:0005268)2.47782059
56Hypoplastic pelvis (HP:0008839)2.47484852
57Steatorrhea (HP:0002570)2.46812608
58Gout (HP:0001997)2.46591970
59Abnormality of reticulocytes (HP:0004312)2.44466824
60Reticulocytopenia (HP:0001896)2.41049896
61Hypoglycemic seizures (HP:0002173)2.41009412
62Abnormal lung lobation (HP:0002101)2.39060316
63Vascular calcification (HP:0004934)2.38929706
64Turricephaly (HP:0000262)2.38827732
65Cholecystitis (HP:0001082)2.35577179
66Abnormal gallbladder physiology (HP:0012438)2.35577179
67Hypochromic microcytic anemia (HP:0004840)2.31370216
68Sensorimotor neuropathy (HP:0007141)2.30086061
69Abnormality of the labia minora (HP:0012880)2.29374785
70Acanthocytosis (HP:0001927)2.29166486
71Abnormal gallbladder morphology (HP:0012437)2.28856253
72Status epilepticus (HP:0002133)2.27716297
73Back pain (HP:0003418)2.27201330
74Metabolic acidosis (HP:0001942)2.25611100
75Amyloidosis (HP:0011034)2.25156938
76Renal duplication (HP:0000075)2.25015421
77Cholelithiasis (HP:0001081)2.24592557
78Cardiovascular calcification (HP:0011915)2.24370229
79Irritability (HP:0000737)2.23970705
80Esophageal varix (HP:0002040)2.14812029
81Systemic lupus erythematosus (HP:0002725)2.12680991
82Meckel diverticulum (HP:0002245)2.10357894
83Abnormality of the lower motor neuron (HP:0002366)2.08310335
84Late onset (HP:0003584)2.08018472
85Aplasia/Hypoplasia of the uvula (HP:0010293)2.08017814
86Glomerulonephritis (HP:0000099)2.05897031
87High anterior hairline (HP:0009890)2.03412271
88Abnormality of cochlea (HP:0000375)1.98541426
89Hemorrhage of the eye (HP:0011885)1.98029391
90Abnormality of the ileum (HP:0001549)1.96794779
91Malnutrition (HP:0004395)1.94832245
92Abnormal cartilage morphology (HP:0002763)1.94799374
93Abnormality of the Achilles tendon (HP:0005109)1.94672768
94Abnormality of the carotid arteries (HP:0005344)1.94545416
95Abnormality of the gallbladder (HP:0005264)1.94361783
96Insomnia (HP:0100785)1.93853433
97Hydroxyprolinuria (HP:0003080)1.93043956
98Abnormality of proline metabolism (HP:0010907)1.93043956
99Pseudobulbar signs (HP:0002200)1.91520512
100Facial hemangioma (HP:0000329)1.91475233
101Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88668134
102Dicarboxylic aciduria (HP:0003215)1.88668134
103Bifid tongue (HP:0010297)1.88079516
104Lymphangioma (HP:0100764)1.87088333
105Overriding aorta (HP:0002623)1.86710517
106Enlarged kidneys (HP:0000105)1.86685596
107Lethargy (HP:0001254)1.84530386
108Neurofibrillary tangles (HP:0002185)1.83143465
109Stroke (HP:0001297)1.82615486
110Rickets (HP:0002748)1.82231196
111Torticollis (HP:0000473)1.81766575
112Flat cornea (HP:0007720)1.81093758
113Missing ribs (HP:0000921)1.80672065
114Generalized hypotonia (HP:0001290)1.79337707
115Breech presentation (HP:0001623)1.79124791
116Reticulocytosis (HP:0001923)1.78831639
117Renovascular hypertension (HP:0100817)1.78318803
118Truncus arteriosus (HP:0001660)1.77130599
119Cerebral inclusion bodies (HP:0100314)1.77127503
120Small intestinal stenosis (HP:0012848)1.76491302
121Duodenal stenosis (HP:0100867)1.76491302
122Colon cancer (HP:0003003)1.75762906
123Hyperinsulinemic hypoglycemia (HP:0000825)1.75223475
124Nephritis (HP:0000123)1.74842108
125Craniofacial dystonia (HP:0012179)1.74295771
126Hemivertebrae (HP:0002937)1.73778315
127Elfin facies (HP:0004428)1.73710899
128Abnormality of chromosome stability (HP:0003220)1.73205590
129Brushfield spots (HP:0001088)1.71901908
130Poikilocytosis (HP:0004447)1.71732029
131Morphological abnormality of the inner ear (HP:0011390)1.71610722
132Myelomeningocele (HP:0002475)1.69647405
133Abnormality of the duodenum (HP:0002246)1.69151957
134Opisthotonus (HP:0002179)1.68941225
135Thrombophlebitis (HP:0004418)1.67408778
136Obsessive-compulsive behavior (HP:0000722)1.67103318
137Death in childhood (HP:0003819)1.67013806
138Duplication of thumb phalanx (HP:0009942)1.66047660
139Abnormality of homocysteine metabolism (HP:0010919)1.65630258
140Homocystinuria (HP:0002156)1.65630258
141Polycythemia (HP:0001901)1.65554441
142Focal dystonia (HP:0004373)1.65091265
143Tetraplegia (HP:0002445)1.64756902
144Horseshoe kidney (HP:0000085)1.62820682
145Upper limb muscle weakness (HP:0003484)1.62572890
146Ankyloglossia (HP:0010296)1.61918106
147Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.59969431
148Abnormality of alanine metabolism (HP:0010916)1.59969431
149Hyperalaninemia (HP:0003348)1.59969431
150Rib fusion (HP:0000902)1.58518149
151Acute encephalopathy (HP:0006846)1.54789499
152Abnormality of the diencephalon (HP:0010662)1.54250111
153Hepatoblastoma (HP:0002884)1.53386995
154Coronal craniosynostosis (HP:0004440)1.53334935
155Absent radius (HP:0003974)1.52831615
156Abnormal number of incisors (HP:0011064)1.51752634
157Nephroblastoma (Wilms tumor) (HP:0002667)1.51451104
158Aplasia/Hypoplasia of the sternum (HP:0006714)1.51159797
159Hyperacusis (HP:0010780)1.51071149
16011 pairs of ribs (HP:0000878)1.50832942
161Abnormality of cells of the erythroid lineage (HP:0012130)1.50468050
162Abnormal number of erythroid precursors (HP:0012131)1.50456763
163Microglossia (HP:0000171)1.48655165
164Abnormality of the preputium (HP:0100587)1.48270054
165Ectopic kidney (HP:0000086)1.48176876
166Embryonal renal neoplasm (HP:0011794)1.46368013
167Aplasia involving forearm bones (HP:0009822)1.46034919
168Absent forearm bone (HP:0003953)1.46034919
169Proximal placement of thumb (HP:0009623)1.45284861
170Triphalangeal thumb (HP:0001199)1.44010601
171Multiple enchondromatosis (HP:0005701)1.42876094
172Long foot (HP:0001833)1.41998200
173Anophthalmia (HP:0000528)1.41888702
174Partial agenesis of the corpus callosum (HP:0001338)1.41886723
175Cerebral edema (HP:0002181)1.41452015
176Hypoplasia of the capital femoral epiphysis (HP:0003090)1.40798773
177Broad alveolar ridges (HP:0000187)1.38223305
178Patellar aplasia (HP:0006443)1.37443338
179Patellar dislocation (HP:0002999)1.37351757
180Disproportionate tall stature (HP:0001519)1.36204402
181Attention deficit hyperactivity disorder (HP:0007018)1.35182468
182Epiphyseal stippling (HP:0010655)1.34950262
183Bifid scrotum (HP:0000048)1.34834944
184Capillary hemangiomas (HP:0005306)1.34754706

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK14.77826276
2BCKDK4.18183625
3TRIB34.11167949
4CDC73.55627952
5PKN23.42516191
6ERN13.42395885
7TTK3.29504512
8FGFR42.89672500
9SRPK12.81102082
10EIF2AK12.45028898
11PLK42.44501160
12BUB12.42939174
13WEE12.27224786
14MAP2K42.17504768
15DAPK22.14069929
16FGFR22.10288841
17EPHA41.93829562
18TSSK61.89158040
19BRSK21.87535184
20RIPK11.86402992
21PLK31.84002401
22PBK1.83046017
23CAMK1D1.80077979
24CLK11.77859225
25PTK61.74746179
26MKNK11.74452733
27NEK21.66386489
28PDGFRA1.66048699
29PNCK1.61602166
30LATS11.60171366
31ERBB41.59477976
32CHEK21.58547824
33CAMKK11.51412564
34CAMK1G1.42700456
35BRSK11.42072279
36LMTK21.41833644
37INSRR1.38239915
38MAP2K71.37956530
39DYRK21.37152836
40PLK11.35888884
41ZAK1.34894241
42LATS21.33394942
43KSR21.32389240
44PAK61.28620118
45RET1.28373462
46ATR1.28054054
47NTRK11.26417256
48MARK11.22783995
49TYRO31.22416272
50NTRK21.22013195
51MAP3K91.19224838
52BCR1.18587006
53ERBB21.18426225
54ICK1.15243364
55MAP3K71.12074068
56DYRK31.11672609
57KSR11.09959883
58MINK11.09895366
59CCNB11.07658762
60VRK21.07491359
61MAPK111.06893457
62SGK31.06040825
63DDR21.05692285
64PRKD31.05620587
65PDK21.03081134
66PTK21.02726950
67AURKB1.00758370
68BMX1.00635247
69WNK40.97488469
70ATM0.94468862
71FLT30.94189795
72NEK10.94157720
73CHEK10.94067469
74PRKCZ0.92671820
75RAF10.92526796
76MKNK20.90475302
77MAP3K40.89898293
78MAP3K100.89615114
79EPHB20.89404605
80MAP4K20.89164901
81PAK30.88521968
82CASK0.88456163
83WNK30.85575607
84CDK10.85174545
85VRK10.83873544
86CDK150.83736980
87SGK4940.83451973
88SGK2230.83451973
89FGFR10.83394715
90CDK180.82880162
91CDK140.80857132
92NTRK30.80499935
93CDK11A0.80237202
94CDK60.79336603
95MAPKAPK50.78806789
96JAK20.78189134
97SGK20.77826744
98PLK20.77740094
99CSNK1E0.77010167
100AURKA0.76517306
101CSNK1G10.76223234
102NME10.76074650
103DYRK1B0.75105545
104CSNK1G30.74852652
105CDK70.74833397
106STK380.74424539
107MST1R0.74147057
108TAOK30.73232015
109MAP3K20.72084691
110TAF10.72010857
111STK160.71546464
112CDK20.71409435
113ABL20.70946842
114PRKCG0.70743082
115FRK0.70589583
116PINK10.70210338
117MAP2K10.70087906
118PHKG10.68636062
119PHKG20.68636062
120CSNK1A1L0.68254830
121CDK80.66568634
122NEK90.63936914
123PRKACG0.63913557
124TAOK20.63726036
125PRKDC0.62198898
126FGFR30.61339420
127MTOR0.60305706
128EEF2K0.59942874
129MAP3K80.59235884
130TRIM280.58248593
131FER0.56070669
132PRKAA20.54688176
133PRKCH0.53481638
134MET0.52991047
135MAPK120.52926999
136PAK20.52347372
137PRKAA10.51221690
138GSK3A0.51097978
139ALK0.49529165
140CSNK2A20.49283413
141TNIK0.48927347
142PDPK10.47987483
143SIK20.47524764
144STK40.46300424
145PDGFRB0.46041504
146LRRK20.46010461
147PIK3CG0.45835997
148EPHB10.45591430
149BRAF0.45545799
150CAMK40.45253727
151JAK10.44972560
152STK30.44418708
153MAPK40.44299082
154CSNK2A10.44060873
155AKT20.43587837
156MAP2K60.42783900
157MAPK140.42140810
158SCYL20.41914119
159CDK50.40164406
160CSNK1G20.40105230
161TGFBR20.39668965
162EPHA30.39592544
163TAOK10.38586528
164DAPK10.37847874
165MAP3K10.36039942
166RPS6KA30.35910954
167ROCK10.34849489

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.61426383
2Primary bile acid biosynthesis_Homo sapiens_hsa001204.11565316
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.21345075
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.14082464
5Arginine biosynthesis_Homo sapiens_hsa002203.00353086
6* Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.96687270
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.57877438
8Fatty acid degradation_Homo sapiens_hsa000712.55172426
9DNA replication_Homo sapiens_hsa030302.49001419
10Tryptophan metabolism_Homo sapiens_hsa003802.45256854
11Complement and coagulation cascades_Homo sapiens_hsa046102.42204423
12Butanoate metabolism_Homo sapiens_hsa006502.31662999
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.28372003
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.27401648
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.24094199
16Mismatch repair_Homo sapiens_hsa034302.19364912
17* Fatty acid metabolism_Homo sapiens_hsa012122.07685371
18PPAR signaling pathway_Homo sapiens_hsa033202.03630396
19Pentose and glucuronate interconversions_Homo sapiens_hsa000402.01632673
20Propanoate metabolism_Homo sapiens_hsa006401.94495387
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.83342318
22Peroxisome_Homo sapiens_hsa041461.82963914
23Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.82328830
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.81443463
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.79771454
26Bile secretion_Homo sapiens_hsa049761.74734069
27Chemical carcinogenesis_Homo sapiens_hsa052041.71841728
28Caffeine metabolism_Homo sapiens_hsa002321.69316603
292-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.66428365
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.65256639
31beta-Alanine metabolism_Homo sapiens_hsa004101.51289553
32Drug metabolism - other enzymes_Homo sapiens_hsa009831.47702612
33Fatty acid biosynthesis_Homo sapiens_hsa000611.47053082
34Steroid biosynthesis_Homo sapiens_hsa001001.46734841
35Homologous recombination_Homo sapiens_hsa034401.45656437
36Histidine metabolism_Homo sapiens_hsa003401.44332059
37Fanconi anemia pathway_Homo sapiens_hsa034601.43138348
38Base excision repair_Homo sapiens_hsa034101.41860753
39Non-homologous end-joining_Homo sapiens_hsa034501.41787067
40Retinol metabolism_Homo sapiens_hsa008301.41717791
41Cell cycle_Homo sapiens_hsa041101.41233030
42Nucleotide excision repair_Homo sapiens_hsa034201.40867930
43Pyruvate metabolism_Homo sapiens_hsa006201.38627004
44Staphylococcus aureus infection_Homo sapiens_hsa051501.34707010
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34444235
46Selenocompound metabolism_Homo sapiens_hsa004501.34055674
47RNA transport_Homo sapiens_hsa030131.29583365
48Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.29214733
49Biosynthesis of amino acids_Homo sapiens_hsa012301.27004743
50Spliceosome_Homo sapiens_hsa030401.25938832
51Phenylalanine metabolism_Homo sapiens_hsa003601.25273610
52Starch and sucrose metabolism_Homo sapiens_hsa005001.19381888
53Carbon metabolism_Homo sapiens_hsa012001.16937007
54Tyrosine metabolism_Homo sapiens_hsa003501.16305865
55Fatty acid elongation_Homo sapiens_hsa000621.13535524
56Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.13266670
57Fat digestion and absorption_Homo sapiens_hsa049751.11626505
58Sulfur metabolism_Homo sapiens_hsa009201.09809510
59Cysteine and methionine metabolism_Homo sapiens_hsa002701.08520537
60Ribosome_Homo sapiens_hsa030101.04120195
61ABC transporters_Homo sapiens_hsa020101.01579773
62Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.99149537
63Cyanoamino acid metabolism_Homo sapiens_hsa004600.91752977
64Lysine degradation_Homo sapiens_hsa003100.90375101
65Protein export_Homo sapiens_hsa030600.89716873
66RNA polymerase_Homo sapiens_hsa030200.88307617
67mRNA surveillance pathway_Homo sapiens_hsa030150.82206488
68Basal transcription factors_Homo sapiens_hsa030220.82159522
69Arginine and proline metabolism_Homo sapiens_hsa003300.78227933
70Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78071732
71Parkinsons disease_Homo sapiens_hsa050120.77163877
72Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75009609
73Glycerolipid metabolism_Homo sapiens_hsa005610.74872014
74Folate biosynthesis_Homo sapiens_hsa007900.74732832
75Sulfur relay system_Homo sapiens_hsa041220.72224293
76Pyrimidine metabolism_Homo sapiens_hsa002400.69619247
77Vitamin digestion and absorption_Homo sapiens_hsa049770.67142799
78Oxidative phosphorylation_Homo sapiens_hsa001900.66153381
79Maturity onset diabetes of the young_Homo sapiens_hsa049500.65891944
80Proteasome_Homo sapiens_hsa030500.65470891
81Huntingtons disease_Homo sapiens_hsa050160.65169047
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.64282419
83RNA degradation_Homo sapiens_hsa030180.62062701
84Basal cell carcinoma_Homo sapiens_hsa052170.61415556
85Vitamin B6 metabolism_Homo sapiens_hsa007500.61310427
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.59234578
87Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.59202952
88N-Glycan biosynthesis_Homo sapiens_hsa005100.58158947
89Purine metabolism_Homo sapiens_hsa002300.50215887
90Oocyte meiosis_Homo sapiens_hsa041140.48716527
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.47207696
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.46765215
93Pentose phosphate pathway_Homo sapiens_hsa000300.46509071
94Hippo signaling pathway_Homo sapiens_hsa043900.45896966
95One carbon pool by folate_Homo sapiens_hsa006700.45412664
96Prion diseases_Homo sapiens_hsa050200.43704649
97Glutathione metabolism_Homo sapiens_hsa004800.42139327
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.42035094
99Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.40314534
100Nicotine addiction_Homo sapiens_hsa050330.39522346
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.39024997
102Insulin resistance_Homo sapiens_hsa049310.37576717
103Alzheimers disease_Homo sapiens_hsa050100.36809636
104Galactose metabolism_Homo sapiens_hsa000520.36513190
105Hedgehog signaling pathway_Homo sapiens_hsa043400.36133362
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35569319
107Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35066585
108Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.34983855
109Wnt signaling pathway_Homo sapiens_hsa043100.30727441
110Glucagon signaling pathway_Homo sapiens_hsa049220.28987246
111Metabolic pathways_Homo sapiens_hsa011000.26170090
112AMPK signaling pathway_Homo sapiens_hsa041520.22750439
113Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.20482679
114Fructose and mannose metabolism_Homo sapiens_hsa000510.17759086
115Ovarian steroidogenesis_Homo sapiens_hsa049130.15272203
116Central carbon metabolism in cancer_Homo sapiens_hsa052300.14963499
117Insulin signaling pathway_Homo sapiens_hsa049100.14468817
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.13118192
119alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.11935093
120Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.07404327
121Aldosterone synthesis and secretion_Homo sapiens_hsa049250.06936180
122GABAergic synapse_Homo sapiens_hsa047270.04828912
123Bladder cancer_Homo sapiens_hsa052190.02231138
124Thyroid hormone synthesis_Homo sapiens_hsa049180.02180379
125Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.01919611
126Type II diabetes mellitus_Homo sapiens_hsa049300.01305766
127Other types of O-glycan biosynthesis_Homo sapiens_hsa00514-0.1194631
128Insulin secretion_Homo sapiens_hsa04911-0.1078676
129mTOR signaling pathway_Homo sapiens_hsa04150-0.1040945
130Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533-0.0943057
131Glioma_Homo sapiens_hsa05214-0.0904843
132Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0779046
133Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.0514605
134Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0403945
135Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0190010
136Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.0156961
137Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0100823
138Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0083070

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