FADS2

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 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. 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)6.84873274
2L-phenylalanine catabolic process (GO:0006559)6.84873274
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.54858891
4L-phenylalanine metabolic process (GO:0006558)6.54858891
5* alpha-linolenic acid metabolic process (GO:0036109)6.42451293
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.40455540
7aromatic amino acid family catabolic process (GO:0009074)6.07147891
8high-density lipoprotein particle remodeling (GO:0034375)5.62712789
9bile acid biosynthetic process (GO:0006699)5.55850744
10kynurenine metabolic process (GO:0070189)5.49199421
11tryptophan catabolic process (GO:0006569)5.37991066
12indole-containing compound catabolic process (GO:0042436)5.37991066
13indolalkylamine catabolic process (GO:0046218)5.37991066
14glyoxylate metabolic process (GO:0046487)5.35071770
15negative regulation of fibrinolysis (GO:0051918)5.24360658
16sulfur amino acid catabolic process (GO:0000098)5.18646621
17reverse cholesterol transport (GO:0043691)5.14484718
18urea cycle (GO:0000050)5.14363836
19urea metabolic process (GO:0019627)5.14363836
20tryptophan metabolic process (GO:0006568)5.04893469
21cysteine metabolic process (GO:0006534)4.99994245
22regulation of fibrinolysis (GO:0051917)4.90192973
23protein carboxylation (GO:0018214)4.88784574
24peptidyl-glutamic acid carboxylation (GO:0017187)4.88784574
25protein-lipid complex remodeling (GO:0034368)4.80204646
26macromolecular complex remodeling (GO:0034367)4.80204646
27plasma lipoprotein particle remodeling (GO:0034369)4.80204646
28regulation of cholesterol esterification (GO:0010872)4.80184470
29serine family amino acid catabolic process (GO:0009071)4.80081406
30planar cell polarity pathway involved in neural tube closure (GO:0090179)4.76653589
31negative regulation of sterol transport (GO:0032372)4.74853354
32negative regulation of cholesterol transport (GO:0032375)4.74853354
33regulation of protein activation cascade (GO:2000257)4.74706887
34bile acid metabolic process (GO:0008206)4.74629457
35nitrogen cycle metabolic process (GO:0071941)4.68467587
36complement activation, alternative pathway (GO:0006957)4.66744499
37fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.66362101
38lysine catabolic process (GO:0006554)4.58696284
39lysine metabolic process (GO:0006553)4.58696284
40regulation of triglyceride catabolic process (GO:0010896)4.54379616
41cellular ketone body metabolic process (GO:0046950)4.48503933
42homocysteine metabolic process (GO:0050667)4.47726216
43amino-acid betaine metabolic process (GO:0006577)4.46537048
44phospholipid efflux (GO:0033700)4.44126050
45regulation of complement activation (GO:0030449)4.41269133
46regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.37763266
47aromatic amino acid family metabolic process (GO:0009072)4.35997498
48alpha-amino acid catabolic process (GO:1901606)4.35358876
49tyrosine metabolic process (GO:0006570)4.35052366
50plasma lipoprotein particle clearance (GO:0034381)4.35031508
51acylglycerol homeostasis (GO:0055090)4.32868623
52triglyceride homeostasis (GO:0070328)4.32868623
53glutamate metabolic process (GO:0006536)4.29362525
54dicarboxylic acid biosynthetic process (GO:0043650)4.25899049
55cellular modified amino acid catabolic process (GO:0042219)4.20845037
56ethanol oxidation (GO:0006069)4.17532905
57cholesterol efflux (GO:0033344)4.17195289
58glycine metabolic process (GO:0006544)4.15915438
59regulation of cholesterol homeostasis (GO:2000188)4.14367940
60paraxial mesoderm development (GO:0048339)4.11611202
61cellular amino acid catabolic process (GO:0009063)4.05665912
62plasma lipoprotein particle assembly (GO:0034377)4.03536174
63low-density lipoprotein particle remodeling (GO:0034374)4.02498557
64benzene-containing compound metabolic process (GO:0042537)3.97523748
65coenzyme catabolic process (GO:0009109)3.96398043
66serine family amino acid metabolic process (GO:0009069)3.95431422
67serine family amino acid biosynthetic process (GO:0009070)3.92502564
68bile acid and bile salt transport (GO:0015721)3.91916901
69cellular glucuronidation (GO:0052695)3.91628122
70ketone body metabolic process (GO:1902224)3.90877911
71positive regulation of fatty acid beta-oxidation (GO:0032000)3.87843075
72long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.85539583
73positive regulation of lipid catabolic process (GO:0050996)3.84548380
74convergent extension (GO:0060026)3.83542357
75phospholipid homeostasis (GO:0055091)3.83228063
76drug catabolic process (GO:0042737)3.79226564
77acetyl-CoA metabolic process (GO:0006084)3.75635252
78arginine metabolic process (GO:0006525)3.73209275
79imidazole-containing compound metabolic process (GO:0052803)3.73092679
80indolalkylamine metabolic process (GO:0006586)3.72357916
81plasma lipoprotein particle organization (GO:0071827)3.71040634
82regulation of cholesterol biosynthetic process (GO:0045540)3.70450798
83short-chain fatty acid metabolic process (GO:0046459)3.69824843
84very-low-density lipoprotein particle assembly (GO:0034379)3.66978039
85L-serine metabolic process (GO:0006563)3.65543799
86protein-lipid complex assembly (GO:0065005)3.65535141
87protein retention in ER lumen (GO:0006621)3.61093011
88cellular biogenic amine catabolic process (GO:0042402)3.60050737
89amine catabolic process (GO:0009310)3.60050737
90cholesterol homeostasis (GO:0042632)3.59762426
91maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.55613501
92sterol homeostasis (GO:0055092)3.54481681
93positive regulation of triglyceride metabolic process (GO:0090208)3.54369265
94aspartate family amino acid catabolic process (GO:0009068)3.54050404
95fibrinolysis (GO:0042730)3.53601355
96negative regulation of lipase activity (GO:0060192)3.52175878
97fatty-acyl-CoA biosynthetic process (GO:0046949)3.51903664
98organic acid catabolic process (GO:0016054)3.51783774
99carboxylic acid catabolic process (GO:0046395)3.51783774
100protein-lipid complex subunit organization (GO:0071825)3.51072005
101lipoprotein metabolic process (GO:0042157)3.50406338
102regulation of fatty acid beta-oxidation (GO:0031998)3.49792224
103positive regulation of triglyceride lipase activity (GO:0061365)3.48724062
104positive regulation of lipoprotein lipase activity (GO:0051006)3.48724062
105regulation of bile acid biosynthetic process (GO:0070857)3.46108189
106very long-chain fatty acid metabolic process (GO:0000038)3.45491926
107regulation of cholesterol metabolic process (GO:0090181)3.44895732
108* linoleic acid metabolic process (GO:0043651)3.42158690
109glucuronate metabolic process (GO:0019585)3.39923379
110COPI coating of Golgi vesicle (GO:0048205)3.26313449
111Golgi transport vesicle coating (GO:0048200)3.26313449
112cholesterol biosynthetic process (GO:0006695)3.21598956
113proline biosynthetic process (GO:0006561)3.20512661
114long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.20296699
115DNA unwinding involved in DNA replication (GO:0006268)3.15334699
116cytoskeletal anchoring at plasma membrane (GO:0007016)3.10530111
117Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.09787781
118G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.09402541
119basement membrane organization (GO:0071711)3.03141766
120adherens junction assembly (GO:0034333)2.93429217
121regulation of establishment of planar polarity (GO:0090175)2.93370446
122acyl-CoA biosynthetic process (GO:0071616)2.91800854
123thioester biosynthetic process (GO:0035384)2.91800854
124regulation of NFAT protein import into nucleus (GO:0051532)2.91235320
125neuron projection extension involved in neuron projection guidance (GO:1902284)2.87538837
126axon extension involved in axon guidance (GO:0048846)2.87538837
127semaphorin-plexin signaling pathway (GO:0071526)2.83509529
128proline metabolic process (GO:0006560)2.83012920
129heterochromatin organization (GO:0070828)2.81245261
130layer formation in cerebral cortex (GO:0021819)2.77881560
131protein-DNA complex disassembly (GO:0032986)2.75533042
132nucleosome disassembly (GO:0006337)2.75533042
133biotin metabolic process (GO:0006768)2.75111982
134cochlea morphogenesis (GO:0090103)2.74636913
135fatty-acyl-CoA metabolic process (GO:0035337)2.73668354
136notochord development (GO:0030903)2.72793772
137sterol biosynthetic process (GO:0016126)2.67801685
138protein localization to endosome (GO:0036010)2.67418327
139fatty acid elongation (GO:0030497)2.65208775
140regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.64203749
141cellular response to prostaglandin stimulus (GO:0071379)2.62446609
142non-canonical Wnt signaling pathway (GO:0035567)2.61655992
143retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.60779817
144NADPH regeneration (GO:0006740)2.60022777
145regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.59503361
146hemidesmosome assembly (GO:0031581)2.59237679
147focal adhesion assembly (GO:0048041)2.53278342
148cell-substrate adherens junction assembly (GO:0007045)2.53278342
149pentose-phosphate shunt (GO:0006098)2.53178000
150low-density lipoprotein particle clearance (GO:0034383)2.52053399
151cerebellar Purkinje cell layer development (GO:0021680)2.51781144
152peptidyl-arginine omega-N-methylation (GO:0035247)2.51319235
153camera-type eye morphogenesis (GO:0048593)2.50356720
154regulation of translational fidelity (GO:0006450)2.48591978
155tricarboxylic acid metabolic process (GO:0072350)2.47260761
156gap junction assembly (GO:0016264)2.46091436
157negative regulation of cell fate specification (GO:0009996)2.45030473
158negative regulation of chondrocyte differentiation (GO:0032331)2.44014252
159cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.43203278
160establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.42997571
161cell-substrate junction assembly (GO:0007044)2.42021084
162establishment or maintenance of bipolar cell polarity (GO:0061245)2.41296645
163establishment or maintenance of apical/basal cell polarity (GO:0035088)2.41296645
164establishment of apical/basal cell polarity (GO:0035089)2.41274782
165regulation of glucose import in response to insulin stimulus (GO:2001273)2.39145335
166neural tube development (GO:0021915)2.36652312
167polarized epithelial cell differentiation (GO:0030859)2.35457530
168cellular response to cholesterol (GO:0071397)2.34936226
169regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.34555021
170triglyceride biosynthetic process (GO:0019432)2.32849116
171hippo signaling (GO:0035329)2.32156478
172epithelial cell-cell adhesion (GO:0090136)2.29368819
173regulation of mammary gland epithelial cell proliferation (GO:0033599)2.29026048
174epithelial cell differentiation involved in prostate gland development (GO:0060742)2.28269935
175regulation of cell fate specification (GO:0042659)2.26987470
176cell-cell junction maintenance (GO:0045217)2.25725021
177endodermal cell differentiation (GO:0035987)2.25590990
178cell migration in hindbrain (GO:0021535)2.24772053
179apical protein localization (GO:0045176)2.23947314
180vascular endothelial growth factor signaling pathway (GO:0038084)2.23923916
181cell migration involved in sprouting angiogenesis (GO:0002042)2.23322691
182glucose catabolic process (GO:0006007)2.23283024
183myelination in peripheral nervous system (GO:0022011)2.22276815
184peripheral nervous system axon ensheathment (GO:0032292)2.22276815
185protein complex localization (GO:0031503)2.22215840
186dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.21697373

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.82795779
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.70680542
3* LXR_22158963_ChIP-Seq_LIVER_Mouse6.14973498
4EGR1_23403033_ChIP-Seq_LIVER_Mouse5.64364108
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.88331240
6* PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.79661048
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.02208553
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.92833290
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.16920057
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.10416142
11ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.85824091
12E2F7_22180533_ChIP-Seq_HELA_Human2.70527771
13WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.24205629
14CLOCK_20551151_ChIP-Seq_293T_Human2.23107777
15* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.12599856
16* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.0443896
17TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.98242451
18ESR1_15608294_ChIP-ChIP_MCF-7_Human1.95151507
19CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.89518150
20FOXM1_23109430_ChIP-Seq_U2OS_Human1.84716341
21NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.84663699
22* ELK3_25401928_ChIP-Seq_HUVEC_Human1.83912013
23MYC_22102868_ChIP-Seq_BL_Human1.82382787
24FOXA2_19822575_ChIP-Seq_HepG2_Human1.79924235
25ZFP281_27345836_Chip-Seq_ESCs_Mouse1.73541538
26EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.71653112
27TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.67661746
28SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.64731670
29AR_21909140_ChIP-Seq_LNCAP_Human1.64361419
30HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.62570986
31KDM2B_26808549_Chip-Seq_SUP-B15_Human1.59199981
32* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.56393036
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.56272760
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.52328410
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.51611465
36* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.50262871
37UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48484961
38TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45944946
39* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.43105251
40NANOG_21062744_ChIP-ChIP_HESCs_Human1.42987800
41HNF4A_19822575_ChIP-Seq_HepG2_Human1.41207764
42ZNF263_19887448_ChIP-Seq_K562_Human1.41194163
43* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.40095392
44DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.39110969
45RARG_19884340_ChIP-ChIP_MEFs_Mouse1.38544691
46* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.38374786
47KDM2B_26808549_Chip-Seq_DND41_Human1.36414958
48* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.34672297
49KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.32626712
50OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.31764955
51SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.29687981
52TCF3_18692474_ChIP-Seq_MEFs_Mouse1.29310165
53MYC_18555785_ChIP-Seq_MESCs_Mouse1.28166794
54NANOG_18555785_ChIP-Seq_MESCs_Mouse1.27131958
55ZFX_18555785_ChIP-Seq_MESCs_Mouse1.25850539
56KLF4_18555785_ChIP-Seq_MESCs_Mouse1.22131374
57TCF7_22412390_ChIP-Seq_EML_Mouse1.20869298
58TP53_22127205_ChIP-Seq_IMR90_Human1.20142064
59ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.20023777
60ESR2_21235772_ChIP-Seq_MCF-7_Human1.18193661
61HTT_18923047_ChIP-ChIP_STHdh_Human1.18069557
62* VDR_21846776_ChIP-Seq_THP-1_Human1.17835366
63SOX2_18555785_ChIP-Seq_MESCs_Mouse1.17480787
64EGR1_19374776_ChIP-ChIP_THP-1_Human1.15267376
65SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.15150063
66* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14483973
67KDM2B_26808549_Chip-Seq_JURKAT_Human1.14320892
68* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.13184409
69KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.12152165
70HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.10005727
71LXR_22292898_ChIP-Seq_THP-1_Human1.09868886
72OCT4_18692474_ChIP-Seq_MEFs_Mouse1.09812128
73ERG_21242973_ChIP-ChIP_JURKAT_Human1.09471765
74NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.09158598
75MYC_19079543_ChIP-ChIP_MESCs_Mouse1.08486253
76CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.08282474
77WT1_19549856_ChIP-ChIP_CCG9911_Human1.07929050
78TP53_20018659_ChIP-ChIP_R1E_Mouse1.07335357
79ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06731477
80EZH2_18974828_ChIP-Seq_MESCs_Mouse1.06060508
81RNF2_18974828_ChIP-Seq_MESCs_Mouse1.06060508
82KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.04170479
83KAP1_27257070_Chip-Seq_ESCs_Mouse1.04159121
84NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.03927775
85SOX9_24532713_ChIP-Seq_HFSC_Mouse1.03732022
86STAT6_21828071_ChIP-Seq_BEAS2B_Human1.03507733
87RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02973570
88SOX2_18692474_ChIP-Seq_MEFs_Mouse1.02598695
89* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.02203629
90SA1_27219007_Chip-Seq_ERYTHROID_Human1.02118751
91ISL1_27105846_Chip-Seq_CPCs_Mouse1.01528190
92SMC4_20622854_ChIP-Seq_HELA_Human1.01116912
93SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.01069620
94RXRA_24833708_ChIP-Seq_LIVER_Mouse1.00674565
95P68_20966046_ChIP-Seq_HELA_Human1.00574456
96* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.98800723
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97639178
98ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97088373
99ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.94663743
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93060585
101MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.91650880
102GATA1_22025678_ChIP-Seq_K562_Human0.86643754
103* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.85600959
104NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.83820702
105SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.82007591
106GATA4_25053715_ChIP-Seq_YYC3_Human0.79955671
107NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.79167155
108CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.78584741
109ESR1_21235772_ChIP-Seq_MCF-7_Human0.77808221
110GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.77679329
111AUTS2_25519132_ChIP-Seq_293T-REX_Human0.77478476
112STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.76436857
113TRIM28_21343339_ChIP-Seq_HEK293_Human0.74117881
114TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.73314601
115ESR1_20079471_ChIP-ChIP_T-47D_Human0.73092841
116TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.72948432
117SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71642509
118RARA_24833708_ChIP-Seq_LIVER_Mouse0.70220046
119DNAJC2_21179169_ChIP-ChIP_NT2_Human0.70141878
120ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.69260194
121NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.68322321
122SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.68318398
123RACK7_27058665_Chip-Seq_MCF-7_Human0.68312214
124FOXO3_23340844_ChIP-Seq_DLD1_Human0.67045069
125NRF2_20460467_ChIP-Seq_MEFs_Mouse0.64104727
126NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.64104727
127GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.63386077
128CREB1_26743006_Chip-Seq_LNCaP_Human0.63071536
129RAD21_21589869_ChIP-Seq_MESCs_Mouse0.62367852
130CDX2_20551321_ChIP-Seq_CACO-2_Human0.61194868
131GATA1_19941826_ChIP-Seq_K562_Human0.60855702
132PPAR_26484153_Chip-Seq_NCI-H1993_Human0.59953001
133EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.59829475
134P300_27058665_Chip-Seq_ZR-75-30cells_Human0.59342925
135POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.58674924
136RARB_24833708_ChIP-Seq_LIVER_Mouse0.56221880
137* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.54388736
138* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.53861522
139ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.53676362
140NFIB_24661679_ChIP-Seq_LUNG_Mouse0.53512798
141KDM2B_26808549_Chip-Seq_K562_Human0.51010075
142SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.50703653
143FOXA1_25552417_ChIP-Seq_VCAP_Human0.50530077
144MYC_27129775_Chip-Seq_CORNEA_Mouse0.50528217
145GATA1_19941827_ChIP-Seq_MEL_Mouse0.50031643
146TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.49507934
147MYC_19915707_ChIP-ChIP_AK7_Human0.48361214
148GATA6_25053715_ChIP-Seq_YYC3_Human0.48325621
149* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.48180729
150STAT3_1855785_ChIP-Seq_MESCs_Mouse0.48100414
151TBX20_22328084_ChIP-Seq_HEART_Mouse0.47400199
152TBX20_22080862_ChIP-Seq_HEART_Mouse0.47400199
153* GATA2_19941826_ChIP-Seq_K562_Human0.46219508
154TP63_17297297_ChIP-ChIP_HaCaT_Human0.45917314
155* CTCF_27219007_Chip-Seq_Bcells_Human0.45771260
156SMAD4_21741376_ChIP-Seq_HESCs_Human0.45351701
157POU5F1_16518401_ChIP-PET_MESCs_Mouse0.45255426
158CBP_21632823_ChIP-Seq_H3396_Human0.45123600
159KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.44850471
160CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.44664925
161BCAT_22108803_ChIP-Seq_LS180_Human0.44652464
162ZNF217_24962896_ChIP-Seq_MCF-7_Human0.44598002
163ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.44364912
164FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.44080376
165ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.43269301
166PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.43264437

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.51153758
2MP0005360_urolithiasis7.27576521
3MP0005085_abnormal_gallbladder_physiolo6.20191746
4MP0005365_abnormal_bile_salt6.00081026
5MP0008875_abnormal_xenobiotic_pharmacok4.92367185
6MP0003252_abnormal_bile_duct3.96324005
7MP0010329_abnormal_lipoprotein_level3.78935318
8MP0003806_abnormal_nucleotide_metabolis3.64958985
9MP0009840_abnormal_foam_cell3.54079315
10MP0005083_abnormal_biliary_tract3.24648116
11MP0004272_abnormal_basement_membrane2.96013435
12MP0005332_abnormal_amino_acid2.75662934
13MP0000566_synostosis2.55238971
14MP0001666_abnormal_nutrient_absorption2.54439451
15MP0005257_abnormal_intraocular_pressure2.50728425
16MP0008438_abnormal_cutaneous_collagen2.45886935
17MP0003195_calcinosis2.37543156
18MP0003566_abnormal_cell_adhesion2.36669198
19MP0000537_abnormal_urethra_morphology2.27388122
20MP0010030_abnormal_orbit_morphology2.25410101
21* MP0002118_abnormal_lipid_homeostasis2.15138757
22MP0001849_ear_inflammation2.13584345
23MP0004019_abnormal_vitamin_homeostasis2.13434507
24MP0003191_abnormal_cellular_cholesterol2.13196180
25* MP0000609_abnormal_liver_physiology2.09585728
26MP0003705_abnormal_hypodermis_morpholog2.00443913
27MP0005275_abnormal_skin_tensile1.94324747
28MP0003868_abnormal_feces_composition1.92450685
29MP0005623_abnormal_meninges_morphology1.89900226
30MP0005409_darkened_coat_color1.84618576
31MP0003122_maternal_imprinting1.84186301
32MP0002089_abnormal_postnatal_growth/wei1.84181862
33MP0005319_abnormal_enzyme/_coenzyme1.80058039
34MP0003941_abnormal_skin_development1.78617041
35MP0000778_abnormal_nervous_system1.73097685
36MP0002138_abnormal_hepatobiliary_system1.64988548
37MP0003283_abnormal_digestive_organ1.61295360
38MP0005584_abnormal_enzyme/coenzyme_acti1.60041625
39MP0002697_abnormal_eye_size1.57083860
40MP0004859_abnormal_synaptic_plasticity1.55574017
41MP0000428_abnormal_craniofacial_morphol1.44978131
42MP0003385_abnormal_body_wall1.44031359
43MP0003011_delayed_dark_adaptation1.43034216
44MP0005076_abnormal_cell_differentiation1.41719907
45MP0001730_embryonic_growth_arrest1.39262937
46MP0001299_abnormal_eye_distance/1.38722565
47MP0002254_reproductive_system_inflammat1.35322827
48MP0000647_abnormal_sebaceous_gland1.34298047
49MP0000604_amyloidosis1.32399904
50MP0005501_abnormal_skin_physiology1.30904523
51MP0003942_abnormal_urinary_system1.25306752
52MP0003329_amyloid_beta_deposits1.24827129
53MP0000534_abnormal_ureter_morphology1.23884931
54MP0001764_abnormal_homeostasis1.19140930
55MP0002098_abnormal_vibrissa_morphology1.18056891
56MP0003861_abnormal_nervous_system1.15614627
57MP0009643_abnormal_urine_homeostasis1.15446638
58MP0003656_abnormal_erythrocyte_physiolo1.13528398
59MP0002060_abnormal_skin_morphology1.12708671
60MP0000762_abnormal_tongue_morphology1.12423892
61* MP0000598_abnormal_liver_morphology1.10600037
62MP0000377_abnormal_hair_follicle1.10592900
63MP0003091_abnormal_cell_migration1.09868521
64MP0004185_abnormal_adipocyte_glucose1.09550734
65MP0002092_abnormal_eye_morphology1.09437439
66MP0003634_abnormal_glial_cell1.07908585
67MP0003690_abnormal_glial_cell1.07391805
68MP0004233_abnormal_muscle_weight1.07307530
69MP0009697_abnormal_copulation1.07286430
70MP0003119_abnormal_digestive_system1.06664824
71MP0002085_abnormal_embryonic_tissue1.05778865
72MP0002111_abnormal_tail_morphology1.05077212
73MP0002084_abnormal_developmental_patter1.04122557
74MP0009703_decreased_birth_body1.01963720
75MP0000462_abnormal_digestive_system1.01322816
76MP0004130_abnormal_muscle_cell1.00135861
77MP0003111_abnormal_nucleus_morphology1.00088151
78MP0001672_abnormal_embryogenesis/_devel0.99610032
79MP0005380_embryogenesis_phenotype0.99610032
80MP0000639_abnormal_adrenal_gland0.99452716
81MP0004197_abnormal_fetal_growth/weight/0.98972989
82MP0003186_abnormal_redox_activity0.98847041
83MP0003878_abnormal_ear_physiology0.98051993
84MP0005377_hearing/vestibular/ear_phenot0.98051993
85MP0008932_abnormal_embryonic_tissue0.96685833
86MP0000751_myopathy0.95735873
87MP0003453_abnormal_keratinocyte_physiol0.95473200
88MP0004270_analgesia0.94987433
89MP0009053_abnormal_anal_canal0.94211753
90MP0000432_abnormal_head_morphology0.92492773
91MP0005451_abnormal_body_composition0.92431563
92MP0003984_embryonic_growth_retardation0.92119495
93MP0002233_abnormal_nose_morphology0.90384591
94MP0003935_abnormal_craniofacial_develop0.89996762
95MP0003937_abnormal_limbs/digits/tail_de0.89162863
96MP0003123_paternal_imprinting0.88523969
97MP0009379_abnormal_foot_pigmentation0.87932946
98MP0002116_abnormal_craniofacial_bone0.87375276
99MP0005670_abnormal_white_adipose0.86987986
100MP0002080_prenatal_lethality0.86731951
101MP0005636_abnormal_mineral_homeostasis0.86323664
102MP0000049_abnormal_middle_ear0.85191817
103MP0000003_abnormal_adipose_tissue0.84720300
104MP0002088_abnormal_embryonic_growth/wei0.84702838
105MP0000467_abnormal_esophagus_morphology0.83629078
106MP0003755_abnormal_palate_morphology0.83396128
107MP0005508_abnormal_skeleton_morphology0.83376030
108MP0001529_abnormal_vocalization0.82259692
109MP0002081_perinatal_lethality0.81728300
110MP0010368_abnormal_lymphatic_system0.80103022
111MP0010352_gastrointestinal_tract_polyps0.79774803
112* MP0005647_abnormal_sex_gland0.79672484
113MP0002078_abnormal_glucose_homeostasis0.79181186
114* MP0009642_abnormal_blood_homeostasis0.78994348
115MP0000955_abnormal_spinal_cord0.78576863
116MP0003890_abnormal_embryonic-extraembry0.78439167
117MP0009764_decreased_sensitivity_to0.78273800
118MP0003279_aneurysm0.77330317
119MP0002152_abnormal_brain_morphology0.77173171
120MP0009384_cardiac_valve_regurgitation0.75993610
121MP0009250_abnormal_appendicular_skeleto0.75916688
122MP0002086_abnormal_extraembryonic_tissu0.74353376
123MP0005197_abnormal_uvea_morphology0.73837285
124* MP0009763_increased_sensitivity_to0.73678465
125MP0001340_abnormal_eyelid_morphology0.73590575
126MP0009780_abnormal_chondrocyte_physiolo0.72820578
127MP0002877_abnormal_melanocyte_morpholog0.71863962
128MP0005220_abnormal_exocrine_pancreas0.71149197
129MP0005248_abnormal_Harderian_gland0.70350948
130MP0002971_abnormal_brown_adipose0.69720390
131MP0001756_abnormal_urination0.69693151
132MP0005334_abnormal_fat_pad0.68465014
133MP0005376_homeostasis/metabolism_phenot0.63157285
134MP0005408_hypopigmentation0.62157094
135MP0005448_abnormal_energy_balance0.60456553
136MP0003075_altered_response_to0.59573683
137MP0001661_extended_life_span0.58641939
138MP0010234_abnormal_vibrissa_follicle0.58087495
139MP0001881_abnormal_mammary_gland0.57954393
140MP0005535_abnormal_body_temperature0.57388463
141MP0005084_abnormal_gallbladder_morpholo0.56522297
142MP0008469_abnormal_protein_level0.56240344
143MP0009765_abnormal_xenobiotic_induced0.55712735
144MP0005666_abnormal_adipose_tissue0.55224059
145MP0003638_abnormal_response/metabolism_0.54972400
146MP0005187_abnormal_penis_morphology0.53931474
147MP0004858_abnormal_nervous_system0.53476729
148MP0009672_abnormal_birth_weight0.53243395
149MP0002909_abnormal_adrenal_gland0.52666847
150MP0002928_abnormal_bile_duct0.52126030
151MP0002090_abnormal_vision0.52034451
152MP0002822_catalepsy0.51962429
153MP0003953_abnormal_hormone_level0.51472629
154MP0002168_other_aberrant_phenotype0.48974233
155MP0005266_abnormal_metabolism0.46597594
156MP0005395_other_phenotype0.45565701
157MP0004883_abnormal_blood_vessel0.45465534
158MP0005167_abnormal_blood-brain_barrier0.45012408
159MP0008874_decreased_physiological_sensi0.44803649
160MP0008872_abnormal_physiological_respon0.43400080
161MP0006036_abnormal_mitochondrial_physio0.41777608
162MP0002136_abnormal_kidney_physiology0.40494419
163MP0002876_abnormal_thyroid_physiology0.40066483
164MP0008961_abnormal_basal_metabolism0.36567862
165MP0002970_abnormal_white_adipose0.35901022
166MP0006035_abnormal_mitochondrial_morpho0.35604709
167MP0005166_decreased_susceptibility_to0.35279611
168MP0000230_abnormal_systemic_arterial0.34129327
169MP0009115_abnormal_fat_cell0.33992413
170MP0003632_abnormal_nervous_system0.32817682
171MP0001915_intracranial_hemorrhage0.31252650
172MP0000579_abnormal_nail_morphology0.30765746
173MP0004885_abnormal_endolymph0.30155549
174MP0002796_impaired_skin_barrier0.28333489
175MP0003633_abnormal_nervous_system0.28105858
176MP0008873_increased_physiological_sensi0.28061457
177MP0003115_abnormal_respiratory_system0.27681530
178MP0002249_abnormal_larynx_morphology0.26743514
179MP0005595_abnormal_vascular_smooth0.26732986
180MP0000249_abnormal_blood_vessel0.26690695

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.46629956
2Intrahepatic cholestasis (HP:0001406)6.77072312
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.74405853
4Xanthomatosis (HP:0000991)6.35605410
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.30117793
6Hypobetalipoproteinemia (HP:0003563)6.14699322
7Prolonged partial thromboplastin time (HP:0003645)5.81104052
8Hyperlipoproteinemia (HP:0010980)5.54882932
9Hypolipoproteinemia (HP:0010981)4.81181472
10Complement deficiency (HP:0004431)4.70215365
11Epidermoid cyst (HP:0200040)4.61132863
12Hyperammonemia (HP:0001987)4.56040486
13Hypoalphalipoproteinemia (HP:0003233)4.43368671
14Hyperglycinemia (HP:0002154)4.41087688
15Ketosis (HP:0001946)4.36479113
16Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.30056804
17Joint hemorrhage (HP:0005261)4.07596034
18Abnormality of the common coagulation pathway (HP:0010990)4.06912854
19Abnormality of glutamine family amino acid metabolism (HP:0010902)4.06352807
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.05169810
21Abnormality of glycine metabolism (HP:0010895)4.03962448
22Abnormality of serine family amino acid metabolism (HP:0010894)4.03962448
23Hyperglycinuria (HP:0003108)3.98454208
24Abnormality of methionine metabolism (HP:0010901)3.75867080
25Abnormality of aspartate family amino acid metabolism (HP:0010899)3.71598683
26Hypercholesterolemia (HP:0003124)3.69946825
27Hypoglycemic coma (HP:0001325)3.69645783
28Hyperacusis (HP:0010780)3.65643621
29Shallow orbits (HP:0000586)3.65250147
30Fat malabsorption (HP:0002630)3.64635823
31Premature rupture of membranes (HP:0001788)3.53490652
32Abnormality of the intrinsic pathway (HP:0010989)3.41975815
33Abnormality of pyrimidine metabolism (HP:0004353)3.37050680
34Abnormality of complement system (HP:0005339)3.35523254
35Ketoacidosis (HP:0001993)3.28989049
36Protrusio acetabuli (HP:0003179)3.20470239
37Delayed CNS myelination (HP:0002188)3.17844790
38Hyperbilirubinemia (HP:0002904)3.12631089
39Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.10337504
40Conjugated hyperbilirubinemia (HP:0002908)3.04700678
41Abnormality of fatty-acid metabolism (HP:0004359)2.98813042
42Hepatocellular carcinoma (HP:0001402)2.96124928
43Insomnia (HP:0100785)2.88100038
44Abnormality of nucleobase metabolism (HP:0010932)2.87819787
45Spastic diplegia (HP:0001264)2.86058155
46Skin nodule (HP:0200036)2.84806009
47Abnormality of serum amino acid levels (HP:0003112)2.78721206
48Myocardial infarction (HP:0001658)2.78455570
49Ulnar bowing (HP:0003031)2.72479006
50Neonatal onset (HP:0003623)2.68228999
51Spontaneous abortion (HP:0005268)2.64732944
52Abnormality of purine metabolism (HP:0004352)2.63204341
53Gout (HP:0001997)2.60559463
54Steatorrhea (HP:0002570)2.59448872
55Acanthocytosis (HP:0001927)2.55927692
56Renovascular hypertension (HP:0100817)2.55330277
57Abnormal gallbladder physiology (HP:0012438)2.55321982
58Cholecystitis (HP:0001082)2.55321982
59Aplasia involving bones of the upper limbs (HP:0009823)2.51937927
60Aplasia of the phalanges of the hand (HP:0009802)2.51937927
61Aplasia involving bones of the extremities (HP:0009825)2.51937927
62Overriding aorta (HP:0002623)2.51679148
63Cortical dysplasia (HP:0002539)2.51376687
64Bladder diverticulum (HP:0000015)2.51176229
65Hypochromic microcytic anemia (HP:0004840)2.49803447
66Metabolic acidosis (HP:0001942)2.48003432
67Vascular calcification (HP:0004934)2.47969957
68Hypoglycemic seizures (HP:0002173)2.47031279
69Arnold-Chiari malformation (HP:0002308)2.46755970
70Bronchomalacia (HP:0002780)2.46187732
71Mitral stenosis (HP:0001718)2.45712386
72Coronal craniosynostosis (HP:0004440)2.45324544
73Renal duplication (HP:0000075)2.44887371
74Neonatal short-limb short stature (HP:0008921)2.42670400
75Abnormal gallbladder morphology (HP:0012437)2.40981071
76Back pain (HP:0003418)2.38479036
77Cholelithiasis (HP:0001081)2.37082783
78Esophageal varix (HP:0002040)2.36674580
79Elfin facies (HP:0004428)2.36544289
80Irritability (HP:0000737)2.36275597
81Late onset (HP:0003584)2.33426136
82Disproportionate tall stature (HP:0001519)2.33162476
83Advanced eruption of teeth (HP:0006288)2.30077362
84Increased nuchal translucency (HP:0010880)2.29805535
85Sensorimotor neuropathy (HP:0007141)2.29166731
86Cardiovascular calcification (HP:0011915)2.26426785
87Turricephaly (HP:0000262)2.24314655
88Amyloidosis (HP:0011034)2.23765786
89Malnutrition (HP:0004395)2.21324189
90Choanal stenosis (HP:0000452)2.20477001
91Dicarboxylic aciduria (HP:0003215)2.17490368
92Abnormality of dicarboxylic acid metabolism (HP:0010995)2.17490368
93Pseudobulbar signs (HP:0002200)2.16000433
94Broad metatarsal (HP:0001783)2.15469121
95Generalized hypotonia (HP:0001290)2.14974558
96Status epilepticus (HP:0002133)2.12409337
97Asymmetry of the thorax (HP:0001555)2.11598631
98Lethargy (HP:0001254)2.11098636
99Abnormality of dentin (HP:0010299)2.10117939
100Trigonocephaly (HP:0000243)2.09807101
101Hemorrhage of the eye (HP:0011885)2.09627170
102Abnormality of the gallbladder (HP:0005264)2.05960456
103Vertebral arch anomaly (HP:0008438)2.02856471
104Abnormality of proline metabolism (HP:0010907)2.02192187
105Hydroxyprolinuria (HP:0003080)2.02192187
106Bowel diverticulosis (HP:0005222)2.02061106
107Ankle contracture (HP:0006466)2.01897604
108Systemic lupus erythematosus (HP:0002725)2.00451309
109Enlarged kidneys (HP:0000105)1.99977849
110Abnormal cartilage morphology (HP:0002763)1.99481453
111Long palpebral fissure (HP:0000637)1.98072285
112Brushfield spots (HP:0001088)1.97879437
113High anterior hairline (HP:0009890)1.97646908
114Biconcave vertebral bodies (HP:0004586)1.96453329
115Thin ribs (HP:0000883)1.93527429
116Poikilocytosis (HP:0004447)1.93012550
117Broad face (HP:0000283)1.91876786
118Reticulocytosis (HP:0001923)1.91544403
119Hammertoe (HP:0001765)1.90878360
120Precocious puberty (HP:0000826)1.89979675
121Glomerulonephritis (HP:0000099)1.89800738
122Rickets (HP:0002748)1.88984913
123Abnormality of the lower motor neuron (HP:0002366)1.87791942
124Hyperinsulinemic hypoglycemia (HP:0000825)1.87716992
125Abnormality of the Achilles tendon (HP:0005109)1.86010452
126Broad thumb (HP:0011304)1.85568604
127Atrophic scars (HP:0001075)1.85503560
128Vertebral compression fractures (HP:0002953)1.85290091
129Obstructive sleep apnea (HP:0002870)1.84833588
130Blue sclerae (HP:0000592)1.84291982
131Partial duplication of thumb phalanx (HP:0009944)1.84261402
132Vitreoretinal degeneration (HP:0000655)1.83771431
133Wide anterior fontanel (HP:0000260)1.82754002
134Pointed chin (HP:0000307)1.82464355
135Partial duplication of the phalanx of hand (HP:0009999)1.80626124
136Thrombophlebitis (HP:0004418)1.79030847
137Vomiting (HP:0002013)1.78728234
138Mitral regurgitation (HP:0001653)1.78559620
139Hepatoblastoma (HP:0002884)1.77683381
140Abnormality of the calcaneus (HP:0008364)1.77648994
141Pancreatitis (HP:0001733)1.77433040
142Stroke (HP:0001297)1.77370504
143Flat acetabular roof (HP:0003180)1.75389079
144Genu recurvatum (HP:0002816)1.73146849
145Opisthotonus (HP:0002179)1.72737399
146Menorrhagia (HP:0000132)1.71668412
147Flat cornea (HP:0007720)1.71222105
148Bifid scrotum (HP:0000048)1.71221702
149Hyperextensible skin (HP:0000974)1.71157644
150Cervical subluxation (HP:0003308)1.71065161
151Wormian bones (HP:0002645)1.71007186
152Midface retrusion (HP:0011800)1.70648417
153Natal tooth (HP:0000695)1.70616240
154Gingival bleeding (HP:0000225)1.70548449
155Short 4th metacarpal (HP:0010044)1.69559864
156Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.69559864
157Skull defect (HP:0001362)1.69467018
158Missing ribs (HP:0000921)1.69164155
159Absent eyelashes (HP:0000561)1.68754678
160Selective tooth agenesis (HP:0001592)1.68545876
161Cerebral inclusion bodies (HP:0100314)1.68276829
162Death in childhood (HP:0003819)1.68104893
163Abnormal enzyme/coenzyme activity (HP:0012379)1.68062236
164Deviation of the hallux (HP:0010051)1.67052210
165Abnormality of the diencephalon (HP:0010662)1.66830534
166Nephritis (HP:0000123)1.66630488
167Patellar dislocation (HP:0002999)1.65871816
168Mitral valve prolapse (HP:0001634)1.65046827
169Alkalosis (HP:0001948)1.64573806
170Neurofibrillary tangles (HP:0002185)1.63866879
171Spinal rigidity (HP:0003306)1.63604193
172Megalocornea (HP:0000485)1.63127059
173Myelomeningocele (HP:0002475)1.62977742
174Lymphangioma (HP:0100764)1.62739554
175Abnormality of the distal phalanx of the thumb (HP:0009617)1.62664444
176Fragile skin (HP:0001030)1.60866837
177Broad phalanges of the hand (HP:0009768)1.60374806
178Cerebral aneurysm (HP:0004944)1.60206247
179Broad long bones (HP:0005622)1.59957508
180Impaired pain sensation (HP:0007328)1.58750431
181Abnormality of pain sensation (HP:0010832)1.58750431
182Vertebral clefting (HP:0008428)1.57006153
183Broad finger (HP:0001500)1.56614165
184Abnormal ossification of hand bones (HP:0005921)1.56395361
185Abnormality of the thoracic spine (HP:0100711)1.56181109
186Hallux valgus (HP:0001822)1.56088400
187Broad palm (HP:0001169)1.55056412
188Arterial tortuosity (HP:0005116)1.54214823
189Rhizomelia (HP:0008905)1.54056121
190Breech presentation (HP:0001623)1.52741630
191Overlapping toe (HP:0001845)1.52283313

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK15.29386227
2BCKDK4.89251883
3TRIB34.18517150
4ERN13.73345242
5SMG13.73065020
6PKN23.68894874
7FGFR43.25304114
8CDK122.31468613
9ERBB42.00427957
10PTK61.98308791
11MAP2K41.95773740
12LATS11.87964958
13DAPK21.75061989
14FGFR21.72893235
15LMTK21.70368689
16RIPK11.65291798
17PRPF4B1.63451421
18INSRR1.56971412
19CAMK1D1.49289231
20MST1R1.45258556
21ICK1.42046795
22EPHA41.41342302
23MAP3K101.37669771
24TTN1.36649841
25MAPK111.36274833
26LATS21.35418606
27FLT31.33606948
28TAOK31.33593352
29TAF11.31987038
30PDGFRA1.30857850
31TESK11.26318003
32ERBB21.25819217
33MAP3K71.20019220
34CAMK1G1.16541877
35EEF2K1.16112331
36RET1.12057782
37PAK41.10599626
38PTK21.07744784
39BMX1.05615332
40PRKCZ0.95628749
41KSR20.95267115
42MARK10.94922498
43NTRK10.92607576
44NTRK20.92287063
45CAMKK10.92202263
46NEK10.91493585
47RPS6KA20.89198035
48CDC70.88993901
49ARAF0.88237293
50SGK30.87918779
51CDK70.87742092
52CDK60.87222386
53EPHB20.85919846
54TYRO30.85224663
55MET0.83953792
56DYRK1B0.83750932
57FRK0.83571081
58MTOR0.83344646
59PRKD30.83107539
60JAK20.82607560
61PIK3CG0.82337433
62ABL20.82179293
63CDK150.82008265
64DYRK20.81980985
65PHKG20.81765656
66PHKG10.81765656
67EPHA30.81617565
68CDK11A0.80719103
69PAK60.80660996
70GRK60.80658779
71PRKAA20.80087744
72TTK0.79637087
73PAK30.77547245
74NEK90.77180774
75FGFR10.76908224
76CDK180.76322451
77VRK20.75223788
78LIMK10.72553701
79CDK140.71173506
80EPHA20.70691659
81EPHB10.68927628
82KSR10.68678505
83PRKACG0.66860386
84ROCK20.66496010
85MARK20.65880694
86PDK30.65156131
87PDK40.65156131
88PRKAA10.64874433
89MAP3K40.62878973
90PAK20.62019272
91TESK20.61637771
92MAPK120.61120231
93MAP3K80.61017036
94DDR20.60186557
95GSK3A0.58265080
96CDC42BPA0.57328399
97PASK0.57300167
98MAPK40.57097582
99TIE10.56894473
100MINK10.56597912
101CDK40.56082319
102CDK90.55796436
103UHMK10.54887265
104PRKCG0.54576618
105MAP2K10.54550885
106FGFR30.54287581
107AURKA0.54139770
108BRAF0.53394085
109STK380.53369442
110ALK0.52335900
111JAK10.49451298
112PINK10.49445810
113LRRK20.49066092
114NEK20.48381433
115STK38L0.47900697
116SGK20.47290370
117CHEK20.47045496
118MAP3K20.46541264
119SGK4940.45859310
120SGK2230.45859310
121FER0.45523100
122PRKD20.45121746
123CSNK1A1L0.44925093
124PRKCH0.43984201
125MAP2K60.43687831
126CSNK1G30.43461369
127RPS6KC10.42332529
128RPS6KL10.42332529
129KDR0.41577792
130DAPK30.41323899
131MAP3K90.41309126
132PDPK10.41137660
133BRD40.41005589
134TYK20.40742121
135RPS6KB20.40540136
136PIM20.39851758
137AKT20.39377496
138CHEK10.38796843
139CDK10.38789248
140BRSK10.38567438
141CASK0.38460385
142MAP3K60.38410367
143MAPK100.37354413
144CSNK1G20.37285685
145MAPK90.36975678
146TAOK10.36871661
147IGF1R0.36234239
148CSNK1G10.36154749
149CDK20.35502610
150PRKDC0.35304625
151CAMK2G0.33925764
152TAOK20.33285906
153SIK20.32522662
154PDGFRB0.32074378
155SCYL20.31799647
156RPS6KA30.31744115

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.26192357
2Primary bile acid biosynthesis_Homo sapiens_hsa001204.12245025
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.34366970
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.26201190
5* Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.98398752
6Arginine biosynthesis_Homo sapiens_hsa002202.98064655
7Fatty acid degradation_Homo sapiens_hsa000712.69135936
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.65211149
9Tryptophan metabolism_Homo sapiens_hsa003802.54652029
10Complement and coagulation cascades_Homo sapiens_hsa046102.44225145
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.36905247
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.36402778
13Butanoate metabolism_Homo sapiens_hsa006502.28792962
14* Fatty acid metabolism_Homo sapiens_hsa012122.13548051
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.10679221
16Propanoate metabolism_Homo sapiens_hsa006402.01865955
17* PPAR signaling pathway_Homo sapiens_hsa033201.97533980
18Peroxisome_Homo sapiens_hsa041461.92446801
19Steroid hormone biosynthesis_Homo sapiens_hsa001401.90659954
20Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.86255059
21Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.76473407
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.76378579
23Bile secretion_Homo sapiens_hsa049761.75548687
24Chemical carcinogenesis_Homo sapiens_hsa052041.74536290
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.68403040
262-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.67149413
27beta-Alanine metabolism_Homo sapiens_hsa004101.61982194
28Caffeine metabolism_Homo sapiens_hsa002321.61815789
29Histidine metabolism_Homo sapiens_hsa003401.60262738
30Drug metabolism - other enzymes_Homo sapiens_hsa009831.54810546
31Pyruvate metabolism_Homo sapiens_hsa006201.52558834
32Retinol metabolism_Homo sapiens_hsa008301.47544335
33ECM-receptor interaction_Homo sapiens_hsa045121.46297417
34Selenocompound metabolism_Homo sapiens_hsa004501.43595265
35Steroid biosynthesis_Homo sapiens_hsa001001.41855261
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.40685940
37Notch signaling pathway_Homo sapiens_hsa043301.38695755
38Staphylococcus aureus infection_Homo sapiens_hsa051501.35782237
39Fatty acid biosynthesis_Homo sapiens_hsa000611.35076811
40Phenylalanine metabolism_Homo sapiens_hsa003601.33426229
41Basal cell carcinoma_Homo sapiens_hsa052171.32741298
42Biosynthesis of amino acids_Homo sapiens_hsa012301.31249067
43Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.29274536
44Adherens junction_Homo sapiens_hsa045201.27855839
45Tyrosine metabolism_Homo sapiens_hsa003501.26585046
46Fatty acid elongation_Homo sapiens_hsa000621.25145320
47Starch and sucrose metabolism_Homo sapiens_hsa005001.24649131
48Fat digestion and absorption_Homo sapiens_hsa049751.24518831
49Carbon metabolism_Homo sapiens_hsa012001.23994047
50Sulfur metabolism_Homo sapiens_hsa009201.19711808
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.18082071
52Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.15458733
53Chronic myeloid leukemia_Homo sapiens_hsa052201.14586817
54Axon guidance_Homo sapiens_hsa043601.11093921
55ABC transporters_Homo sapiens_hsa020101.10426222
56Thyroid cancer_Homo sapiens_hsa052161.09935537
57Hippo signaling pathway_Homo sapiens_hsa043901.08507740
58Endometrial cancer_Homo sapiens_hsa052131.08499567
59Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.08493825
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.08320650
61Focal adhesion_Homo sapiens_hsa045101.08266335
62Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.03151428
63Cyanoamino acid metabolism_Homo sapiens_hsa004601.02787956
64MicroRNAs in cancer_Homo sapiens_hsa052061.02637008
65Thyroid hormone signaling pathway_Homo sapiens_hsa049191.01907956
66Lysine degradation_Homo sapiens_hsa003100.97394139
67Glioma_Homo sapiens_hsa052140.95226007
68Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.95223869
69Arginine and proline metabolism_Homo sapiens_hsa003300.89646131
70Vitamin digestion and absorption_Homo sapiens_hsa049770.88606398
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.88356301
72Folate biosynthesis_Homo sapiens_hsa007900.84982332
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82857641
74Sulfur relay system_Homo sapiens_hsa041220.82182555
75Glycerolipid metabolism_Homo sapiens_hsa005610.79659143
76Proteoglycans in cancer_Homo sapiens_hsa052050.76903377
77Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76646428
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.75019548
79Melanogenesis_Homo sapiens_hsa049160.73690909
80Colorectal cancer_Homo sapiens_hsa052100.73317330
81Vitamin B6 metabolism_Homo sapiens_hsa007500.73258102
82Prostate cancer_Homo sapiens_hsa052150.72808872
83Wnt signaling pathway_Homo sapiens_hsa043100.72592782
84Small cell lung cancer_Homo sapiens_hsa052220.72186326
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71490825
86ErbB signaling pathway_Homo sapiens_hsa040120.68504213
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67658799
88Hedgehog signaling pathway_Homo sapiens_hsa043400.66932471
89Tight junction_Homo sapiens_hsa045300.65308117
90Non-small cell lung cancer_Homo sapiens_hsa052230.64239127
91One carbon pool by folate_Homo sapiens_hsa006700.64158743
92Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.63841408
93Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.62851879
94Gap junction_Homo sapiens_hsa045400.62789585
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.61610522
96VEGF signaling pathway_Homo sapiens_hsa043700.59954453
97Pentose phosphate pathway_Homo sapiens_hsa000300.59675962
98Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58589183
99mRNA surveillance pathway_Homo sapiens_hsa030150.58156974
100Pancreatic cancer_Homo sapiens_hsa052120.55494125
101N-Glycan biosynthesis_Homo sapiens_hsa005100.54475846
102Estrogen signaling pathway_Homo sapiens_hsa049150.53561095
103Vibrio cholerae infection_Homo sapiens_hsa051100.52096972
104Rap1 signaling pathway_Homo sapiens_hsa040150.50043809
105Phospholipase D signaling pathway_Homo sapiens_hsa040720.49563636
106Cell cycle_Homo sapiens_hsa041100.49277656
107Glutathione metabolism_Homo sapiens_hsa004800.48434225
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46887942
109Choline metabolism in cancer_Homo sapiens_hsa052310.43972634
110Melanoma_Homo sapiens_hsa052180.43802750
111Insulin resistance_Homo sapiens_hsa049310.38220023
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.37929675
113Prion diseases_Homo sapiens_hsa050200.33582129
114Metabolic pathways_Homo sapiens_hsa011000.32857522
115Galactose metabolism_Homo sapiens_hsa000520.32357031
116Glucagon signaling pathway_Homo sapiens_hsa049220.26746694
117Fructose and mannose metabolism_Homo sapiens_hsa000510.26568872
118Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.22744653
119AMPK signaling pathway_Homo sapiens_hsa041520.20739013
120Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.20389716
121Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18928641
122Glycerophospholipid metabolism_Homo sapiens_hsa005640.14932959
123Ovarian steroidogenesis_Homo sapiens_hsa049130.13019530
124Central carbon metabolism in cancer_Homo sapiens_hsa052300.10010281
125Insulin signaling pathway_Homo sapiens_hsa049100.08796651
126Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1977533
127Hepatitis C_Homo sapiens_hsa05160-0.1948670
128GABAergic synapse_Homo sapiens_hsa04727-0.1912681
129Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1843811
130Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1720619
131Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550-0.1718946
132Amoebiasis_Homo sapiens_hsa05146-0.1629356
133Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1604858
134* alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.1591435
135Protein digestion and absorption_Homo sapiens_hsa04974-0.1563396
136Type II diabetes mellitus_Homo sapiens_hsa04930-0.1100183
137Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0971364
138Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0970237
139Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0849657
140Linoleic acid metabolism_Homo sapiens_hsa00591-0.0512964
141Bladder cancer_Homo sapiens_hsa05219-0.0503625
142Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0463269
143Aldosterone synthesis and secretion_Homo sapiens_hsa04925-0.0404692
144Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0237372

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