LRAT

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 localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.67157900
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.67157900
3L-phenylalanine metabolic process (GO:0006558)6.33300449
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.33300449
5aromatic amino acid family catabolic process (GO:0009074)5.97256476
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.91249542
7indole-containing compound catabolic process (GO:0042436)5.42592669
8indolalkylamine catabolic process (GO:0046218)5.42592669
9tryptophan catabolic process (GO:0006569)5.42592669
10negative regulation of DNA-dependent DNA replication (GO:2000104)5.37888765
11alpha-linolenic acid metabolic process (GO:0036109)5.35232225
12tyrosine metabolic process (GO:0006570)5.33643054
13kynurenine metabolic process (GO:0070189)5.31761879
14bile acid biosynthetic process (GO:0006699)5.29766912
15urea metabolic process (GO:0019627)5.27922720
16urea cycle (GO:0000050)5.27922720
17regulation of gene silencing by RNA (GO:0060966)5.26660559
18regulation of posttranscriptional gene silencing (GO:0060147)5.26660559
19regulation of gene silencing by miRNA (GO:0060964)5.26660559
20complement activation, alternative pathway (GO:0006957)5.21317659
21regulation of protein activation cascade (GO:2000257)5.17333275
22high-density lipoprotein particle remodeling (GO:0034375)5.12155249
23negative regulation of fibrinolysis (GO:0051918)5.11879201
24tryptophan metabolic process (GO:0006568)5.10000357
25regulation of fibrinolysis (GO:0051917)4.95894283
26regulation of complement activation (GO:0030449)4.91024341
27glyoxylate metabolic process (GO:0046487)4.85579149
28nitrogen cycle metabolic process (GO:0071941)4.82434310
29peptidyl-glutamic acid carboxylation (GO:0017187)4.82335326
30protein carboxylation (GO:0018214)4.82335326
31cysteine metabolic process (GO:0006534)4.80310363
32homocysteine metabolic process (GO:0050667)4.80135522
33regulation of triglyceride catabolic process (GO:0010896)4.76384622
34sulfur amino acid catabolic process (GO:0000098)4.70574051
35regulation of DNA endoreduplication (GO:0032875)4.69816532
36aromatic amino acid family metabolic process (GO:0009072)4.64706078
37bile acid metabolic process (GO:0008206)4.58281862
38regulation of cholesterol esterification (GO:0010872)4.57173542
39reverse cholesterol transport (GO:0043691)4.55256485
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.54555080
41* vitamin A metabolic process (GO:0006776)4.52747972
42protein-lipid complex remodeling (GO:0034368)4.41247496
43macromolecular complex remodeling (GO:0034367)4.41247496
44plasma lipoprotein particle remodeling (GO:0034369)4.41247496
45phospholipid efflux (GO:0033700)4.37865424
46serine family amino acid catabolic process (GO:0009071)4.36850337
47behavioral response to nicotine (GO:0035095)4.35560774
48acylglycerol homeostasis (GO:0055090)4.30327721
49triglyceride homeostasis (GO:0070328)4.30327721
50drug catabolic process (GO:0042737)4.24428237
51bile acid and bile salt transport (GO:0015721)4.22433190
52amino-acid betaine metabolic process (GO:0006577)4.17074124
53cholesterol efflux (GO:0033344)4.16790687
54negative regulation of sterol transport (GO:0032372)4.12481180
55negative regulation of cholesterol transport (GO:0032375)4.12481180
56plasma lipoprotein particle clearance (GO:0034381)4.08192510
57alpha-amino acid catabolic process (GO:1901606)4.04388689
58lysine metabolic process (GO:0006553)4.01319426
59lysine catabolic process (GO:0006554)4.01319426
60retinal metabolic process (GO:0042574)3.98914795
61positive regulation of triglyceride lipase activity (GO:0061365)3.94448596
62positive regulation of lipoprotein lipase activity (GO:0051006)3.94448596
63regulation of mesoderm development (GO:2000380)3.93235009
64cellular glucuronidation (GO:0052695)3.93162317
65ethanol oxidation (GO:0006069)3.88621324
66chromatin remodeling at centromere (GO:0031055)3.87848268
67regulation of nuclear cell cycle DNA replication (GO:0033262)3.87347259
68cellular ketone body metabolic process (GO:0046950)3.87088065
69glutamate metabolic process (GO:0006536)3.81757406
70indolalkylamine metabolic process (GO:0006586)3.79908252
71regulation of bile acid biosynthetic process (GO:0070857)3.78008148
72imidazole-containing compound metabolic process (GO:0052803)3.77895230
73coenzyme catabolic process (GO:0009109)3.76880333
74plasma lipoprotein particle assembly (GO:0034377)3.76485354
75ketone body metabolic process (GO:1902224)3.76075349
76benzene-containing compound metabolic process (GO:0042537)3.75387794
77negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.74667325
78negative regulation of translation, ncRNA-mediated (GO:0040033)3.74667325
79regulation of translation, ncRNA-mediated (GO:0045974)3.74667325
80amine catabolic process (GO:0009310)3.72971038
81cellular biogenic amine catabolic process (GO:0042402)3.72971038
82cellular amino acid catabolic process (GO:0009063)3.72118678
83opsonization (GO:0008228)3.71305725
84exogenous drug catabolic process (GO:0042738)3.71120136
85fibrinolysis (GO:0042730)3.69097914
86arginine metabolic process (GO:0006525)3.68492257
87phospholipid homeostasis (GO:0055091)3.68023470
88low-density lipoprotein particle remodeling (GO:0034374)3.64025039
89regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.63938221
90regulation of mitotic spindle checkpoint (GO:1903504)3.63938221
91intestinal cholesterol absorption (GO:0030299)3.62466699
92cholesterol homeostasis (GO:0042632)3.61961830
93positive regulation of lipid catabolic process (GO:0050996)3.61070114
94negative regulation of protein activation cascade (GO:2000258)3.60603879
95flavonoid metabolic process (GO:0009812)3.59950181
96DNA replication checkpoint (GO:0000076)3.59832538
97drug metabolic process (GO:0017144)3.59373919
98very-low-density lipoprotein particle assembly (GO:0034379)3.59190961
99cellular modified amino acid catabolic process (GO:0042219)3.57526691
100sterol homeostasis (GO:0055092)3.56491628
101negative regulation of telomerase activity (GO:0051974)3.53356621
102short-chain fatty acid metabolic process (GO:0046459)3.52588460
103dicarboxylic acid biosynthetic process (GO:0043650)3.50346076
104glucuronate metabolic process (GO:0019585)3.50050489
105uronic acid metabolic process (GO:0006063)3.50050489
106DNA double-strand break processing (GO:0000729)3.49985388
107L-serine metabolic process (GO:0006563)3.49723136
108CENP-A containing nucleosome assembly (GO:0034080)3.49089289
109complement activation, classical pathway (GO:0006958)3.48103435
110complement activation (GO:0006956)3.48028236
111blood coagulation, intrinsic pathway (GO:0007597)3.47756727
112negative regulation of lipase activity (GO:0060192)3.47714805
113glycine metabolic process (GO:0006544)3.47047570
114epoxygenase P450 pathway (GO:0019373)3.44724691
115protein activation cascade (GO:0072376)3.44668812
116serine family amino acid metabolic process (GO:0009069)3.42522660
117membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.41760745
118telomere maintenance via telomerase (GO:0007004)3.41514238
119establishment of protein localization to mitochondrial membrane (GO:0090151)3.39452037
120histone exchange (GO:0043486)3.38170622
121regulation of cholesterol homeostasis (GO:2000188)3.37264391
122protein-lipid complex assembly (GO:0065005)3.36683648
123plasma lipoprotein particle organization (GO:0071827)3.35633813
124water-soluble vitamin biosynthetic process (GO:0042364)3.33834642
125regulation of helicase activity (GO:0051095)3.31050522
126lung-associated mesenchyme development (GO:0060484)3.24551803
127hemidesmosome assembly (GO:0031581)3.23519134
128sulfation (GO:0051923)3.20980924
129pre-miRNA processing (GO:0031054)3.17662509
130DNA strand renaturation (GO:0000733)3.15798248
131negative regulation of telomere maintenance (GO:0032205)3.09913348
132regulation of telomere maintenance via telomerase (GO:0032210)3.08762798
133membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.06716364
134somatic diversification of immune receptors via somatic mutation (GO:0002566)2.99230633
135somatic hypermutation of immunoglobulin genes (GO:0016446)2.99230633
136protein neddylation (GO:0045116)2.98068508
137mitochondrial respiratory chain complex I assembly (GO:0032981)2.97217188
138NADH dehydrogenase complex assembly (GO:0010257)2.97217188
139mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.97217188
140replication fork processing (GO:0031297)2.97150846
141anterior/posterior axis specification, embryo (GO:0008595)2.96632036
142DNA damage response, signal transduction resulting in transcription (GO:0042772)2.95463318
143response to X-ray (GO:0010165)2.87766253
144kidney morphogenesis (GO:0060993)2.87625300
145regulation of meiosis I (GO:0060631)2.83888803
146negative regulation of transcription regulatory region DNA binding (GO:2000678)2.83544599
147chaperone-mediated protein transport (GO:0072321)2.83443429
148membrane repolarization during action potential (GO:0086011)2.82535469
149DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.78025785
150DNA replication-independent nucleosome organization (GO:0034724)2.77525595
151DNA replication-independent nucleosome assembly (GO:0006336)2.77525595
152lateral sprouting from an epithelium (GO:0060601)2.76153450
153somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.75829811
154somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.75829811
155isotype switching (GO:0045190)2.75829811
156presynaptic membrane assembly (GO:0097105)2.74698357
157female gonad development (GO:0008585)2.73023384
158cell proliferation in forebrain (GO:0021846)2.71592864
159synapsis (GO:0007129)2.70988623
160outer ear morphogenesis (GO:0042473)2.70158248
161cellular response to electrical stimulus (GO:0071257)2.69969619
162transcription elongation from RNA polymerase III promoter (GO:0006385)2.68374762
163termination of RNA polymerase III transcription (GO:0006386)2.68374762
164negative regulation of gene silencing (GO:0060969)2.66456592
165regulation of telomere maintenance (GO:0032204)2.65711464
166protein complex biogenesis (GO:0070271)2.65277194
167regulation of DNA methylation (GO:0044030)2.65216616
168mitochondrial respiratory chain complex assembly (GO:0033108)2.63926960
169IMP biosynthetic process (GO:0006188)2.63907016
170regulation of cell fate specification (GO:0042659)2.61792961
171somatic recombination of immunoglobulin gene segments (GO:0016447)2.61709142
172negative regulation of membrane potential (GO:0045837)2.61620403
173regulation of cell fate commitment (GO:0010453)2.60631116
174dorsal/ventral axis specification (GO:0009950)2.60170276
175otic vesicle formation (GO:0030916)2.57775818
176regulation of telomerase activity (GO:0051972)2.57569450
177regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.55161385
178heterochromatin organization (GO:0070828)2.54475331
179RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.50553120
180negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.50036757
181negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.50036757
182negative regulation of mitotic sister chromatid segregation (GO:0033048)2.50036757
183negative regulation of mitotic sister chromatid separation (GO:2000816)2.50036757
184negative regulation of sister chromatid segregation (GO:0033046)2.50036757
185DNA replication-dependent nucleosome organization (GO:0034723)2.49155919
186DNA replication-dependent nucleosome assembly (GO:0006335)2.49155919
187presynaptic membrane organization (GO:0097090)2.49007605
188regulation of gene silencing (GO:0060968)2.47303037
189ncRNA catabolic process (GO:0034661)2.46962822
190cell fate commitment involved in formation of primary germ layer (GO:0060795)2.45208296
191pseudouridine synthesis (GO:0001522)2.45061087
192exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.44922577
193somatic diversification of immunoglobulins (GO:0016445)2.44919478
194maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.39663601
195membrane repolarization (GO:0086009)2.38704535
196negative regulation of chromosome segregation (GO:0051985)2.38306853
197nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.38181456
198regulation of heart rate by cardiac conduction (GO:0086091)2.35698907

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.80281822
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.93182889
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.88945941
4EGR1_23403033_ChIP-Seq_LIVER_Mouse5.87799525
5LXR_22158963_ChIP-Seq_LIVER_Mouse5.57678956
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.41926254
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.14629165
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.99735636
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.50021245
10EZH2_22144423_ChIP-Seq_EOC_Human3.24012011
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.90323351
12VDR_22108803_ChIP-Seq_LS180_Human2.86275206
13E2F7_22180533_ChIP-Seq_HELA_Human2.70175443
14ZNF274_21170338_ChIP-Seq_K562_Hela2.60601475
15GBX2_23144817_ChIP-Seq_PC3_Human2.48259330
16* POU5F1_16153702_ChIP-ChIP_HESCs_Human2.47520264
17SALL1_21062744_ChIP-ChIP_HESCs_Human2.43275747
18MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.40524584
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.32596590
20EWS_26573619_Chip-Seq_HEK293_Human2.27012616
21FUS_26573619_Chip-Seq_HEK293_Human2.26053235
22FLI1_27457419_Chip-Seq_LIVER_Mouse2.25248322
23KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.14288639
24KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.14288639
25KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.14288639
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.10881032
27P300_19829295_ChIP-Seq_ESCs_Human2.10794204
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.09286778
29TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.03094451
30E2F4_17652178_ChIP-ChIP_JURKAT_Human1.87525102
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.86866491
32GATA1_22025678_ChIP-Seq_K562_Human1.85033083
33BMI1_23680149_ChIP-Seq_NPCS_Mouse1.80829847
34* NANOG_16153702_ChIP-ChIP_HESCs_Human1.80416276
35CLOCK_20551151_ChIP-Seq_293T_Human1.74698341
36* SOX2_16153702_ChIP-ChIP_HESCs_Human1.74413111
37IGF1R_20145208_ChIP-Seq_DFB_Human1.71919395
38KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.71669547
39HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.70021361
40ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.69580175
41TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.67783849
42HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.64551449
43IRF1_19129219_ChIP-ChIP_H3396_Human1.64451656
44E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.61385028
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.60266550
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60261375
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54626081
48GABP_17652178_ChIP-ChIP_JURKAT_Human1.54443403
49PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53373611
50FOXA2_19822575_ChIP-Seq_HepG2_Human1.52829827
51MYC_18940864_ChIP-ChIP_HL60_Human1.50405916
52HTT_18923047_ChIP-ChIP_STHdh_Human1.49860479
53RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46492252
54CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.46323320
55GATA1_26923725_Chip-Seq_HPCs_Mouse1.45868499
56TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.45867348
57POU3F2_20337985_ChIP-ChIP_501MEL_Human1.45300097
58POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.43800005
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43800005
60TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.43729151
61GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.42472983
62EST1_17652178_ChIP-ChIP_JURKAT_Human1.39469982
63UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37349266
64NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.34051929
65TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.32968365
66NOTCH1_21737748_ChIP-Seq_TLL_Human1.32568893
67SMAD4_21799915_ChIP-Seq_A2780_Human1.29550962
68IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.29307054
69SMAD3_21741376_ChIP-Seq_EPCs_Human1.27873145
70RNF2_27304074_Chip-Seq_NSC_Mouse1.27740318
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.26066068
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25475347
73* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.23309099
74NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.22760060
75SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.21276021
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.20222012
77HNF4A_19822575_ChIP-Seq_HepG2_Human1.19233411
78EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.19176267
79MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17549798
80TBX3_20139965_ChIP-Seq_ESCs_Mouse1.17127668
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16821548
82TBX3_20139965_ChIP-Seq_MESCs_Mouse1.15776478
83RARG_19884340_ChIP-ChIP_MEFs_Mouse1.15445484
84CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.15021481
85TRIM28_21343339_ChIP-Seq_HEK293_Human1.14284081
86NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.13581842
87REST_21632747_ChIP-Seq_MESCs_Mouse1.12925850
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11953504
89THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.09195352
90SOX2_27498859_Chip-Seq_STOMACH_Mouse1.09149520
91STAT3_23295773_ChIP-Seq_U87_Human1.08788651
92RBPJ_22232070_ChIP-Seq_NCS_Mouse1.08043125
93RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.07438280
94SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07326971
95KLF5_20875108_ChIP-Seq_MESCs_Mouse1.06830469
96OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06127615
97ELK1_19687146_ChIP-ChIP_HELA_Human1.05488635
98SMAD3_21741376_ChIP-Seq_ESCs_Human1.05352571
99CDX2_20551321_ChIP-Seq_CACO-2_Human1.05226470
100TCF4_23295773_ChIP-Seq_U87_Human1.04843318
101SOX2_18555785_ChIP-Seq_MESCs_Mouse1.04722249
102* EED_16625203_ChIP-ChIP_MESCs_Mouse1.04537415
103PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.04514970
104Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.03776886
105ESR1_21235772_ChIP-Seq_MCF-7_Human1.03577600
106ESR2_21235772_ChIP-Seq_MCF-7_Human1.03257633
107NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.03191015
108NRF2_20460467_ChIP-Seq_MEFs_Mouse1.03191015
109CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02550516
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02168065
111SOX2_19829295_ChIP-Seq_ESCs_Human1.01717749
112NANOG_19829295_ChIP-Seq_ESCs_Human1.01717749
113STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01618537
114ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.01600111
115AR_25329375_ChIP-Seq_VCAP_Human1.00446980
116* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99228916
117POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.98971318
118SMAD4_21741376_ChIP-Seq_EPCs_Human0.98936702
119IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.98328101
120CBP_20019798_ChIP-Seq_JUKART_Human0.98328101
121KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98146047
122POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.97263797
123RUNX2_22187159_ChIP-Seq_PCA_Human0.97187066
124GATA4_25053715_ChIP-Seq_YYC3_Human0.96768658
125NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.96402071
126* RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.96254046
127AR_21572438_ChIP-Seq_LNCaP_Human0.96150108
128TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95880755
129PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95686643
130BCAT_22108803_ChIP-Seq_LS180_Human0.93506669
131RXRA_24833708_ChIP-Seq_LIVER_Mouse0.91584165
132AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91338447
133PIAS1_25552417_ChIP-Seq_VCAP_Human0.90285402
134RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.90015355
135TP63_17297297_ChIP-ChIP_HaCaT_Human0.89677178
136SOX2_20726797_ChIP-Seq_SW620_Human0.88317995
137AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.85842136
138CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.84321949
139SALL4_18804426_ChIP-ChIP_XEN_Mouse0.82975838
140PPAR_26484153_Chip-Seq_NCI-H1993_Human0.80911836
141ZNF217_24962896_ChIP-Seq_MCF-7_Human0.79443997
142FOXO3_23340844_ChIP-Seq_DLD1_Human0.78391651
143EGR1_19032775_ChIP-ChIP_M12_Human0.76257581
144IRF8_22096565_ChIP-ChIP_GC-B_Human0.75544876
145TAF15_26573619_Chip-Seq_HEK293_Human0.74888839
146ESR1_15608294_ChIP-ChIP_MCF-7_Human0.73865507
147GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.73429740
148GATA2_21666600_ChIP-Seq_HMVEC_Human0.73187149
149ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.71502946
150CJUN_26792858_Chip-Seq_BT549_Human0.70259615
151STAT1_17558387_ChIP-Seq_HELA_Human0.68437067
152AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.68344562
153CDX2_22108803_ChIP-Seq_LS180_Human0.68099648
154PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.68042388
155ESR1_20079471_ChIP-ChIP_T-47D_Human0.67874102
156KAP1_22055183_ChIP-Seq_ESCs_Mouse0.67785411
157RAD21_21589869_ChIP-Seq_MESCs_Mouse0.66697862
158CBP_21632823_ChIP-Seq_H3396_Human0.65941500
159FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.65491692
160GATA2_19941826_ChIP-Seq_K562_Human0.64712489
161CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.64646370
162FOXM1_26456572_ChIP-Seq_MCF-7_Human0.64269658
163PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.64169837
164TP63_23658742_ChIP-Seq_EP156T_Human0.62879303
165TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.62148683
166EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.60989712
167ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.60645760
168* FOXA1_25552417_ChIP-Seq_VCAP_Human0.59969107
169CEBPB_22108803_ChIP-Seq_LS180_Human0.59870312
170SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.59771759
171FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.59496717
172TP53_18474530_ChIP-ChIP_U2OS_Human0.58520943
173ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.58381962
174SOX9_24532713_ChIP-Seq_HFSC_Mouse0.56412620
175CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.56312246
176PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.56217544
177EZH2_27294783_Chip-Seq_NPCs_Mouse0.56180895
178MYC_19915707_ChIP-ChIP_AK7_Human0.55617421
179GATA1_19941826_ChIP-Seq_K562_Human0.55561038
180AR_20517297_ChIP-Seq_VCAP_Human0.52908745
181TCF4_22108803_ChIP-Seq_LS180_Human0.52241766
182NFE2_27457419_Chip-Seq_LIVER_Mouse0.51747682
183CRX_20693478_ChIP-Seq_RETINA_Mouse0.50088402
184CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.50061885
185SUZ12_27294783_Chip-Seq_NPCs_Mouse0.49892020
186TAF2_19829295_ChIP-Seq_ESCs_Human0.49715672
187OCT4_21477851_ChIP-Seq_ESCs_Mouse0.48809579
188EP300_21415370_ChIP-Seq_HL-1_Mouse0.48803339
189RARA_24833708_ChIP-Seq_LIVER_Mouse0.47590634
190BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.47366273
191MYC_27129775_Chip-Seq_CORNEA_Mouse0.47164369

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.50687863
2MP0005360_urolithiasis7.31839056
3MP0005085_abnormal_gallbladder_physiolo5.88120737
4MP0005365_abnormal_bile_salt5.29940850
5MP0003011_delayed_dark_adaptation5.20533109
6MP0008875_abnormal_xenobiotic_pharmacok5.02624517
7MP0003941_abnormal_skin_development4.47679429
8MP0003252_abnormal_bile_duct3.58965798
9MP0010329_abnormal_lipoprotein_level3.37536330
10MP0003806_abnormal_nucleotide_metabolis3.36548241
11MP0008877_abnormal_DNA_methylation3.26985949
12MP0006292_abnormal_olfactory_placode3.22320474
13MP0009840_abnormal_foam_cell3.03311416
14* MP0004019_abnormal_vitamin_homeostasis2.73341278
15MP0001666_abnormal_nutrient_absorption2.66417775
16MP0005083_abnormal_biliary_tract2.59345811
17MP0001188_hyperpigmentation2.49087262
18MP0002138_abnormal_hepatobiliary_system2.45160515
19MP0005332_abnormal_amino_acid2.41727672
20MP0003890_abnormal_embryonic-extraembry2.36323535
21MP0001485_abnormal_pinna_reflex2.32783435
22MP0003191_abnormal_cellular_cholesterol2.23632426
23MP0003195_calcinosis2.13557287
24MP0003718_maternal_effect2.13378350
25MP0002254_reproductive_system_inflammat2.07517546
26MP0008058_abnormal_DNA_repair1.96638728
27MP0002118_abnormal_lipid_homeostasis1.93410951
28MP0000609_abnormal_liver_physiology1.89846182
29MP0002938_white_spotting1.86250206
30MP0000049_abnormal_middle_ear1.83793564
31MP0002102_abnormal_ear_morphology1.82917018
32MP0004133_heterotaxia1.80890431
33MP0003937_abnormal_limbs/digits/tail_de1.80575260
34MP0003693_abnormal_embryo_hatching1.79221677
35MP0006072_abnormal_retinal_apoptosis1.78860963
36MP0000569_abnormal_digit_pigmentation1.74750082
37MP0001293_anophthalmia1.65107959
38MP0003119_abnormal_digestive_system1.61506345
39MP0003646_muscle_fatigue1.60348534
40MP0004885_abnormal_endolymph1.59359536
41MP0005319_abnormal_enzyme/_coenzyme1.54446677
42MP0003868_abnormal_feces_composition1.51318571
43MP0003567_abnormal_fetal_cardiomyocyte1.50782675
44MP0010368_abnormal_lymphatic_system1.49900977
45MP0004957_abnormal_blastocyst_morpholog1.48730186
46MP0003283_abnormal_digestive_organ1.46544167
47MP0010094_abnormal_chromosome_stability1.45690897
48MP0003787_abnormal_imprinting1.39236993
49MP0000762_abnormal_tongue_morphology1.39200092
50MP0001764_abnormal_homeostasis1.38310235
51MP0009697_abnormal_copulation1.36974720
52MP0005584_abnormal_enzyme/coenzyme_acti1.36556977
53MP0003121_genomic_imprinting1.34822627
54MP0008789_abnormal_olfactory_epithelium1.30651543
55MP0005408_hypopigmentation1.29012857
56MP0008932_abnormal_embryonic_tissue1.28611041
57MP0002160_abnormal_reproductive_system1.28187364
58MP0002272_abnormal_nervous_system1.23255309
59MP0000631_abnormal_neuroendocrine_gland1.22130289
60MP0009250_abnormal_appendicular_skeleto1.20487147
61MP0003705_abnormal_hypodermis_morpholog1.19275513
62MP0001440_abnormal_grooming_behavior1.19064943
63MP0000383_abnormal_hair_follicle1.16945335
64MP0009643_abnormal_urine_homeostasis1.16308869
65MP0001177_atelectasis1.15895214
66MP0001486_abnormal_startle_reflex1.15461988
67MP0000678_abnormal_parathyroid_gland1.13628792
68MP0003111_abnormal_nucleus_morphology1.13297345
69MP0009745_abnormal_behavioral_response1.12899990
70MP0004145_abnormal_muscle_electrophysio1.12794345
71MP0002736_abnormal_nociception_after1.11985410
72MP0005647_abnormal_sex_gland1.11676698
73MP0005257_abnormal_intraocular_pressure1.10934312
74MP0001984_abnormal_olfaction1.10317413
75MP0009672_abnormal_birth_weight1.07737068
76MP0002751_abnormal_autonomic_nervous1.07532526
77MP0003123_paternal_imprinting1.07496832
78MP0003755_abnormal_palate_morphology1.07150313
79MP0005451_abnormal_body_composition1.07051012
80MP0001286_abnormal_eye_development1.06931069
81MP0002876_abnormal_thyroid_physiology1.06389185
82MP0005389_reproductive_system_phenotype1.06151343
83MP0008007_abnormal_cellular_replicative1.06022304
84MP0006276_abnormal_autonomic_nervous1.04614593
85MP0009764_decreased_sensitivity_to1.04183307
86MP0000467_abnormal_esophagus_morphology1.03750580
87MP0001968_abnormal_touch/_nociception1.03014289
88MP0004215_abnormal_myocardial_fiber1.01710036
89MP0002234_abnormal_pharynx_morphology1.00212136
90MP0002233_abnormal_nose_morphology0.99096417
91MP0002697_abnormal_eye_size0.97455172
92MP0000604_amyloidosis0.96750397
93MP0003122_maternal_imprinting0.96226661
94MP0004142_abnormal_muscle_tone0.95284014
95MP0005394_taste/olfaction_phenotype0.94383359
96MP0005499_abnormal_olfactory_system0.94383359
97MP0004782_abnormal_surfactant_physiolog0.93858036
98MP0003724_increased_susceptibility_to0.93568982
99MP0004742_abnormal_vestibular_system0.92733941
100MP0000598_abnormal_liver_morphology0.91572182
101MP0008057_abnormal_DNA_replication0.91333836
102MP0005377_hearing/vestibular/ear_phenot0.90865241
103MP0003878_abnormal_ear_physiology0.90865241
104MP0003656_abnormal_erythrocyte_physiolo0.88603911
105MP0005423_abnormal_somatic_nervous0.88410345
106MP0001324_abnormal_eye_pigmentation0.87972403
107MP0002184_abnormal_innervation0.86592863
108* MP0002752_abnormal_somatic_nervous0.86373706
109MP0009763_increased_sensitivity_to0.86023117
110MP0003186_abnormal_redox_activity0.85155153
111MP0005636_abnormal_mineral_homeostasis0.84442739
112MP0000026_abnormal_inner_ear0.82410027
113MP0002734_abnormal_mechanical_nocicepti0.82284592
114MP0000778_abnormal_nervous_system0.82197852
115MP0008872_abnormal_physiological_respon0.82169163
116MP0001529_abnormal_vocalization0.81705766
117MP0009046_muscle_twitch0.80899837
118MP0002735_abnormal_chemical_nociception0.79361606
119MP0002837_dystrophic_cardiac_calcinosis0.79130412
120MP0002572_abnormal_emotion/affect_behav0.77583168
121MP0001963_abnormal_hearing_physiology0.77370336
122MP0008469_abnormal_protein_level0.76846633
123MP0002733_abnormal_thermal_nociception0.76519333
124MP0001881_abnormal_mammary_gland0.76262283
125MP0002111_abnormal_tail_morphology0.76178820
126MP0004130_abnormal_muscle_cell0.75774081
127MP0003137_abnormal_impulse_conducting0.75526788
128MP0002084_abnormal_developmental_patter0.75396387
129MP0003861_abnormal_nervous_system0.75363090
130* MP0005195_abnormal_posterior_eye0.74891047
131MP0010234_abnormal_vibrissa_follicle0.74348197
132MP0002085_abnormal_embryonic_tissue0.73598825
133MP0000647_abnormal_sebaceous_gland0.73523074
134MP0010030_abnormal_orbit_morphology0.73431146
135MP0009642_abnormal_blood_homeostasis0.73428785
136MP0004197_abnormal_fetal_growth/weight/0.73313221
137MP0005376_homeostasis/metabolism_phenot0.72293338
138MP0001299_abnormal_eye_distance/0.72026818
139MP0004381_abnormal_hair_follicle0.67861716
140MP0005167_abnormal_blood-brain_barrier0.67747675
141MP0009384_cardiac_valve_regurgitation0.67465685
142MP0000579_abnormal_nail_morphology0.66568608
143MP0001661_extended_life_span0.66491978
144* MP0005551_abnormal_eye_electrophysiolog0.62651249
145MP0003690_abnormal_glial_cell0.61988611
146MP0000372_irregular_coat_pigmentation0.61956478
147MP0009765_abnormal_xenobiotic_induced0.60482973
148MP0008438_abnormal_cutaneous_collagen0.59839310
149MP0005334_abnormal_fat_pad0.59180540
150MP0002078_abnormal_glucose_homeostasis0.58762503
151MP0005275_abnormal_skin_tensile0.58712950
152MP0005084_abnormal_gallbladder_morpholo0.57865236
153MP0003329_amyloid_beta_deposits0.56166137
154MP0002971_abnormal_brown_adipose0.55679914
155MP0001756_abnormal_urination0.55523070
156MP0002796_impaired_skin_barrier0.55289883
157MP0005464_abnormal_platelet_physiology0.51266879
158MP0005535_abnormal_body_temperature0.49894920
159MP0006036_abnormal_mitochondrial_physio0.48795264
160MP0000639_abnormal_adrenal_gland0.48433007
161MP0004147_increased_porphyrin_level0.47924319
162MP0000249_abnormal_blood_vessel0.47797267
163MP0004883_abnormal_blood_vessel0.47539684
164MP0005164_abnormal_response_to0.47238469
165MP0003075_altered_response_to0.46924180
166MP0005448_abnormal_energy_balance0.46445817
167MP0002136_abnormal_kidney_physiology0.46280262
168MP0003638_abnormal_response/metabolism_0.45567204
169MP0009053_abnormal_anal_canal0.44407947
170MP0005266_abnormal_metabolism0.44135543
171MP0006082_CNS_inflammation0.43476197
172MP0000371_diluted_coat_color0.43166976
173MP0005220_abnormal_exocrine_pancreas0.43059450
174MP0003136_yellow_coat_color0.42622484
175MP0001879_abnormal_lymphatic_vessel0.42283924
176MP0002132_abnormal_respiratory_system0.41166208
177MP0005166_decreased_susceptibility_to0.41140424
178MP0000427_abnormal_hair_cycle0.41121425
179MP0005197_abnormal_uvea_morphology0.40574865
180* MP0002090_abnormal_vision0.40035515
181MP0003453_abnormal_keratinocyte_physiol0.39516464
182MP0008874_decreased_physiological_sensi0.39215719
183MP0000230_abnormal_systemic_arterial0.38885314
184MP0005670_abnormal_white_adipose0.37338995
185MP0005248_abnormal_Harderian_gland0.37165607
186MP0005253_abnormal_eye_physiology0.37075136
187MP0005595_abnormal_vascular_smooth0.36347666
188MP0002060_abnormal_skin_morphology0.34549021
189MP0005395_other_phenotype0.34248470

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.21174753
2Intrahepatic cholestasis (HP:0001406)6.98259950
3Abnormality of aromatic amino acid family metabolism (HP:0004338)6.48234686
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.18031460
5Hypobetalipoproteinemia (HP:0003563)6.14917311
6Xanthomatosis (HP:0000991)5.97384952
7Prolonged partial thromboplastin time (HP:0003645)5.93838840
8Complement deficiency (HP:0004431)5.36343075
9Hyperlipoproteinemia (HP:0010980)5.11655940
10Hypolipoproteinemia (HP:0010981)4.56331200
11Joint hemorrhage (HP:0005261)4.41654834
12Abnormality of glutamine family amino acid metabolism (HP:0010902)4.33635836
13Epidermoid cyst (HP:0200040)4.32706441
14Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.16572525
15Hyperammonemia (HP:0001987)4.15988490
16Abnormality of the common coagulation pathway (HP:0010990)4.12532640
17Abnormality of the labia minora (HP:0012880)4.10251974
18Fat malabsorption (HP:0002630)4.06984023
19Abnormality of complement system (HP:0005339)3.93236073
20Hypoalphalipoproteinemia (HP:0003233)3.89046300
21Hyperglycinemia (HP:0002154)3.87122957
22Hyperglycinuria (HP:0003108)3.78065508
23Ketosis (HP:0001946)3.77052239
24Abnormality of sulfur amino acid metabolism (HP:0004339)3.77034891
25Abnormality of aspartate family amino acid metabolism (HP:0010899)3.75784444
26* Decreased electroretinogram (ERG) amplitude (HP:0000654)3.72914329
27Conjugated hyperbilirubinemia (HP:0002908)3.68330197
28Abnormality of methionine metabolism (HP:0010901)3.64715125
29Abnormality of glycine metabolism (HP:0010895)3.62778867
30Abnormality of serine family amino acid metabolism (HP:0010894)3.62778867
31Abnormality of the intrinsic pathway (HP:0010989)3.57753661
32Hypercholesterolemia (HP:0003124)3.55999213
33Septo-optic dysplasia (HP:0100842)3.55714414
34Colon cancer (HP:0003003)3.48199091
35Stenosis of the external auditory canal (HP:0000402)3.46802147
36Hypoglycemic coma (HP:0001325)3.43458125
37Abnormality of pyrimidine metabolism (HP:0004353)3.21581401
38Spontaneous abortion (HP:0005268)3.01998752
39Systemic lupus erythematosus (HP:0002725)2.98040302
40Hyperbilirubinemia (HP:0002904)2.95410216
41Abnormality of nucleobase metabolism (HP:0010932)2.93485783
42Fragile nails (HP:0001808)2.92639954
43Steatorrhea (HP:0002570)2.87688731
44Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.87097647
45Hepatocellular carcinoma (HP:0001402)2.86358173
46Esophageal varix (HP:0002040)2.85379586
47Ketoacidosis (HP:0001993)2.84850262
48Vascular calcification (HP:0004934)2.84808565
49Abnormality of fatty-acid metabolism (HP:0004359)2.84466502
50Amyloidosis (HP:0011034)2.80713156
51Abnormality of purine metabolism (HP:0004352)2.79437973
52Hypochromic microcytic anemia (HP:0004840)2.76498299
53Acanthocytosis (HP:0001927)2.76384033
54Abnormality of the renal collecting system (HP:0004742)2.74654300
55Delayed CNS myelination (HP:0002188)2.73697310
56Skin nodule (HP:0200036)2.72704687
57Mitral stenosis (HP:0001718)2.67902579
58Esophageal atresia (HP:0002032)2.66068226
59Myocardial infarction (HP:0001658)2.65045633
60Aplasia/Hypoplasia of the hallux (HP:0008362)2.63820277
61Short hallux (HP:0010109)2.63552428
62Cardiovascular calcification (HP:0011915)2.61487187
63Abnormality of serum amino acid levels (HP:0003112)2.60629812
64Decreased circulating renin level (HP:0003351)2.57597664
65Bilateral microphthalmos (HP:0007633)2.57475838
66Pancreatic fibrosis (HP:0100732)2.57095647
67Glomerulonephritis (HP:0000099)2.54721810
68True hermaphroditism (HP:0010459)2.53108870
69Metabolic acidosis (HP:0001942)2.49587520
70Malnutrition (HP:0004395)2.49573523
71Abnormal gallbladder morphology (HP:0012437)2.45789105
72Pendular nystagmus (HP:0012043)2.44529624
73Spastic diplegia (HP:0001264)2.44427882
74Pancreatic cysts (HP:0001737)2.43257191
75* Abolished electroretinogram (ERG) (HP:0000550)2.41648620
76Cholelithiasis (HP:0001081)2.41226476
77Recurrent gram-negative bacterial infections (HP:0005420)2.41164938
78Birth length less than 3rd percentile (HP:0003561)2.39714503
79Congenital stationary night blindness (HP:0007642)2.39140024
80Milia (HP:0001056)2.38409112
81Polycythemia (HP:0001901)2.37559594
82Gout (HP:0001997)2.35415701
83Maternal diabetes (HP:0009800)2.32102204
84Hypopigmentation of the fundus (HP:0007894)2.32005837
85Congenital, generalized hypertrichosis (HP:0004540)2.31550502
86Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.31347515
87Decreased central vision (HP:0007663)2.30952398
88Nephritis (HP:0000123)2.29147272
89Lethargy (HP:0001254)2.25878833
90Hydroxyprolinuria (HP:0003080)2.24350211
91Abnormality of proline metabolism (HP:0010907)2.24350211
92Hypoglycemic seizures (HP:0002173)2.24212608
93Abnormal lung lobation (HP:0002101)2.22437696
94Abnormality of the middle phalanges of the toes (HP:0010183)2.20756883
95Gingival bleeding (HP:0000225)2.18943910
96Abnormal gallbladder physiology (HP:0012438)2.18459894
97Cholecystitis (HP:0001082)2.18459894
98Aplasia/Hypoplasia of the tibia (HP:0005772)2.16954433
99Ectopic kidney (HP:0000086)2.13867240
100Thrombophlebitis (HP:0004418)2.13161954
101Irritability (HP:0000737)2.13015946
102Dicarboxylic aciduria (HP:0003215)2.12825198
103Abnormality of dicarboxylic acid metabolism (HP:0010995)2.12825198
104Nephronophthisis (HP:0000090)2.12180756
105Optic nerve hypoplasia (HP:0000609)2.09647879
106Abnormality of cochlea (HP:0000375)2.09062393
107Abnormality of midbrain morphology (HP:0002418)2.05682794
108Molar tooth sign on MRI (HP:0002419)2.05682794
109Pancreatitis (HP:0001733)2.05630669
110Meckel diverticulum (HP:0002245)2.05614339
111Hemorrhage of the eye (HP:0011885)2.05383504
112Menorrhagia (HP:0000132)2.03840855
113Short tibia (HP:0005736)2.03326011
114Aplasia/Hypoplasia of the sternum (HP:0006714)2.03245940
115Methylmalonic acidemia (HP:0002912)2.03005462
116Absent septum pellucidum (HP:0001331)2.02980432
117Breast aplasia (HP:0100783)2.02832770
118Labial hypoplasia (HP:0000066)2.00389642
119Abnormality of the gallbladder (HP:0005264)2.00299045
120Poikilocytosis (HP:0004447)2.00215925
121Hypoplasia of the uterus (HP:0000013)1.99566867
122Aplasia/Hypoplasia of the uvula (HP:0010293)1.99122224
123Gastrointestinal atresia (HP:0002589)1.99119906
124Chromosomal breakage induced by crosslinking agents (HP:0003221)1.98951551
125Abnormality of the phalanges of the 2nd finger (HP:0009541)1.98135526
126Broad-based gait (HP:0002136)1.97649338
127Abnormality of the ileum (HP:0001549)1.97310151
128Plantar hyperkeratosis (HP:0007556)1.96713120
129Hypoplastic female external genitalia (HP:0012815)1.96680477
130Onycholysis (HP:0001806)1.96479875
131Hypoplasia of the pons (HP:0012110)1.96212720
132Cerebral edema (HP:0002181)1.96058796
133Attenuation of retinal blood vessels (HP:0007843)1.95763987
134Neonatal onset (HP:0003623)1.95377113
135Pulmonary embolism (HP:0002204)1.93499005
136Patent foramen ovale (HP:0001655)1.92468646
137Chromsome breakage (HP:0040012)1.92393445
138Pigmentary retinal degeneration (HP:0001146)1.91301388
139Anophthalmia (HP:0000528)1.91018795
140Alkalosis (HP:0001948)1.90532249
141Enlarged kidneys (HP:0000105)1.90053078
142Abnormality of chromosome stability (HP:0003220)1.88575790
143Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.88456297
144Vomiting (HP:0002013)1.87804097
145Aplasia/Hypoplasia of the breasts (HP:0010311)1.87440328
146Supernumerary spleens (HP:0009799)1.87059582
147Progressive cerebellar ataxia (HP:0002073)1.86812435
148Sclerocornea (HP:0000647)1.86737660
149Duodenal stenosis (HP:0100867)1.85956537
150Small intestinal stenosis (HP:0012848)1.85956537
151Morphological abnormality of the inner ear (HP:0011390)1.85890365
152Morphological abnormality of the middle ear (HP:0008609)1.85202308
153Rickets (HP:0002748)1.85059992
154Bony spicule pigmentary retinopathy (HP:0007737)1.84679915
155Stroke (HP:0001297)1.84201487
156Abnormality of the pons (HP:0007361)1.84064790
157Anencephaly (HP:0002323)1.83870283
158Clumsiness (HP:0002312)1.83749524
159Small hand (HP:0200055)1.83301626
160Sensorimotor neuropathy (HP:0007141)1.83059389
161Cerebral hemorrhage (HP:0001342)1.83057950
162Progressive inability to walk (HP:0002505)1.82122572
163Neoplasm of the adrenal cortex (HP:0100641)1.81032449
164Patellar aplasia (HP:0006443)1.80592416
165Duplicated collecting system (HP:0000081)1.80290116
166Abnormality of transition element cation homeostasis (HP:0011030)1.79183310
167Genetic anticipation (HP:0003743)1.78816499
168Spontaneous hematomas (HP:0007420)1.78430119
169Abnormality of the preputium (HP:0100587)1.78338969
170Right ventricular cardiomyopathy (HP:0011663)1.78275702
171Fibular aplasia (HP:0002990)1.77878902
172Conjunctival telangiectasia (HP:0000524)1.77402512
173Generalized aminoaciduria (HP:0002909)1.77359634
174Hyperinsulinemic hypoglycemia (HP:0000825)1.77324885
175Abnormality of alanine metabolism (HP:0010916)1.77093093
176Hyperalaninemia (HP:0003348)1.77093093
177Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.77093093
178Ependymoma (HP:0002888)1.76737730
179Nephroblastoma (Wilms tumor) (HP:0002667)1.75959656
180Inability to walk (HP:0002540)1.75242691
181Abnormality of the phalanges of the 5th finger (HP:0004213)1.75068352
182Abnormality of the duodenum (HP:0002246)1.75003553
183Abnormality of homocysteine metabolism (HP:0010919)1.74087521
184Homocystinuria (HP:0002156)1.74087521
185Aplasia/Hypoplasia of the patella (HP:0006498)1.74028119
186Adactyly (HP:0009776)1.73306208
187Selective tooth agenesis (HP:0001592)1.72871727
188Abnormality of the renal medulla (HP:0100957)1.71025776
189Abnormal number of incisors (HP:0011064)1.70695404
190Aplasia/hypoplasia of the uterus (HP:0008684)1.69281322
191Chorioretinal atrophy (HP:0000533)1.68328290
192Methylmalonic aciduria (HP:0012120)1.67720466
193Gonadotropin excess (HP:0000837)1.63830398
194Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.63211807

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.52259360
2FGFR43.91606125
3TNIK3.53891591
4TIE13.53789510
5ERN13.34588030
6SIK13.26203476
7MKNK23.10618008
8MST1R3.03985958
9TAF12.95859990
10FRK2.77222819
11ZAK2.77215346
12CDC72.73269903
13BUB12.71005751
14WNK32.60608600
15INSRR2.56427930
16TGFBR22.51622458
17VRK22.42156771
18MKNK12.38039314
19BMPR1B2.35250002
20ERBB42.35244427
21TTK2.14961602
22ACVR1B2.13469373
23TSSK62.11212498
24TAOK32.01205033
25PLK31.97474775
26PTK61.87885547
27TRIM281.79135772
28EPHA31.77854687
29PIK3CG1.77314948
30PDK21.66628790
31EPHB11.65134663
32DYRK21.64110955
33FGFR21.63960925
34CASK1.62576024
35GRK11.61266675
36ADRBK21.57511948
37TYK21.57025539
38LATS11.56978028
39MAP2K41.56915727
40MAPK111.48791003
41VRK11.44859881
42PLK41.43384477
43PNCK1.39974593
44PLK11.36900208
45CSK1.36578677
46PKN21.34682691
47DAPK21.33895229
48MET1.32183529
49EPHB21.31568135
50PDK31.30207050
51PDK41.30207050
52JAK11.29966826
53MYLK1.29318286
54STK161.26890532
55PIK3CA1.25380641
56BRSK21.20409695
57MAP3K141.15154701
58NLK1.12353907
59PRKCG1.12081379
60FLT31.11966757
61NEK91.11129143
62OXSR11.10464759
63AKT31.09746553
64FER1.09531368
65JAK21.06832211
66MAP3K71.06180213
67CSNK1G11.05429647
68STK31.03929753
69FGFR31.03835150
70WEE11.03098338
71PRKAA21.01824788
72CDK191.00793862
73PINK11.00773701
74KDR1.00533798
75TRIB30.97208746
76DYRK30.97021094
77GSK3A0.95155258
78MST40.95116463
79STK38L0.93727899
80TLK10.91462954
81EIF2AK20.91393654
82WNK40.88706082
83OBSCN0.87622716
84STK240.87115905
85GRK60.85615595
86MAPK120.85475615
87TBK10.81860827
88ERBB20.80549968
89MAP4K20.80507504
90CHEK20.80421804
91NME10.79537643
92ABL20.79376354
93PDPK10.78807900
94ATR0.78706427
95CSNK1G20.77741339
96PRKCE0.75907221
97NEK20.74449587
98PBK0.72950980
99MAP2K60.70972914
100PLK20.70836098
101PDGFRA0.69060059
102PRKCZ0.68981898
103PTK20.68667764
104RIPK10.68246095
105CAMK2G0.66639869
106MAPK150.65993671
107SRPK10.65878234
108MAPK40.65770775
109SGK30.65731849
110MAPKAPK50.62309837
111PRKACG0.61958680
112MAP3K30.60642545
113CAMK1G0.59550839
114PRKG20.59526719
115PDK10.59288278
116PRKCQ0.58668510
117MAP3K40.58088948
118MAP3K20.57494728
119IKBKE0.57305174
120CSNK1G30.57209091
121GRK50.56776125
122IGF1R0.56457132
123ADRBK10.54277141
124ATM0.53978494
125FGFR10.53005443
126STK390.52802589
127EIF2AK30.52623075
128MAPK70.52200359
129PTK2B0.51639889
130CSNK1A1L0.50238658
131CSNK1A10.49859120
132NEK10.49787186
133CDK60.48762934
134TGFBR10.48726901
135BRAF0.48494607
136PKN10.48088254
137PRKAA10.47707520
138CAMK1D0.47428439
139ALK0.46954481
140DMPK0.46732048
141MAP3K90.45625400
142SGK20.45416020
143EPHA20.45396245
144NUAK10.45357042
145PDGFRB0.45199886
146PRKACA0.44197506
147CSNK1E0.44066285
148LMTK20.43991255
149PRKDC0.43441658
150CSF1R0.43387921
151WNK10.43113961
152DYRK1B0.42406148
153CSNK2A10.42277689
154RPS6KA20.42085814
155PASK0.42043145
156SGK4940.41457768
157SGK2230.41457768
158RET0.41451102
159IRAK30.41162096
160RPS6KA60.40578748
161AURKB0.40068414
162EGFR0.38940875
163KIT0.38788727
164TAOK20.38723901
165AURKA0.38154079
166MAP2K10.38018710
167STK110.37967101
168CAMK2A0.37680826
169ICK0.37368610
170DDR20.36736089
171DYRK1A0.36075157
172PRKCI0.35843596
173MAPK130.35282619
174TEC0.35280415
175CDK30.35156635
176PRKCA0.31500926
177MAP2K30.30976349
178BMX0.30178893
179MAP3K10.29244320

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.16732296
2Nitrogen metabolism_Homo sapiens_hsa009103.62241643
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.22941704
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.20859203
5Arginine biosynthesis_Homo sapiens_hsa002202.89005137
6Complement and coagulation cascades_Homo sapiens_hsa046102.70771048
7Tryptophan metabolism_Homo sapiens_hsa003802.70337239
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.62143891
9Fatty acid degradation_Homo sapiens_hsa000712.47426856
10RNA polymerase_Homo sapiens_hsa030202.46385041
11Homologous recombination_Homo sapiens_hsa034402.41340852
12Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.37494717
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.31739269
14Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.30431494
15Caffeine metabolism_Homo sapiens_hsa002322.30066394
16Mismatch repair_Homo sapiens_hsa034302.29335127
17Phototransduction_Homo sapiens_hsa047442.28007075
18Protein export_Homo sapiens_hsa030602.24781327
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.20851215
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.18984587
21Histidine metabolism_Homo sapiens_hsa003402.18733454
22Pentose and glucuronate interconversions_Homo sapiens_hsa000402.15929659
23* Retinol metabolism_Homo sapiens_hsa008302.15233705
24Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.07003858
25Chemical carcinogenesis_Homo sapiens_hsa052042.05185074
26Peroxisome_Homo sapiens_hsa041461.96485487
27Basal transcription factors_Homo sapiens_hsa030221.96121896
28Nicotine addiction_Homo sapiens_hsa050331.96041376
29Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.94973761
30PPAR signaling pathway_Homo sapiens_hsa033201.94805346
31Butanoate metabolism_Homo sapiens_hsa006501.91713302
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.88479909
33DNA replication_Homo sapiens_hsa030301.86285097
34Propanoate metabolism_Homo sapiens_hsa006401.84556295
35Non-homologous end-joining_Homo sapiens_hsa034501.84362849
36Fatty acid metabolism_Homo sapiens_hsa012121.79566363
37beta-Alanine metabolism_Homo sapiens_hsa004101.78684684
38Staphylococcus aureus infection_Homo sapiens_hsa051501.76069402
39Tyrosine metabolism_Homo sapiens_hsa003501.75384941
40RNA degradation_Homo sapiens_hsa030181.73512900
41Phenylalanine metabolism_Homo sapiens_hsa003601.71430205
42Bile secretion_Homo sapiens_hsa049761.70734020
43Oxidative phosphorylation_Homo sapiens_hsa001901.64491233
44Proteasome_Homo sapiens_hsa030501.63609470
45Drug metabolism - other enzymes_Homo sapiens_hsa009831.59735960
46Fanconi anemia pathway_Homo sapiens_hsa034601.59557529
47Fat digestion and absorption_Homo sapiens_hsa049751.57354512
48Selenocompound metabolism_Homo sapiens_hsa004501.54353895
49Ribosome_Homo sapiens_hsa030101.50910505
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50442159
51RNA transport_Homo sapiens_hsa030131.48499439
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.47603215
53Parkinsons disease_Homo sapiens_hsa050121.44546088
54Sulfur metabolism_Homo sapiens_hsa009201.37955583
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.37005266
56Fatty acid elongation_Homo sapiens_hsa000621.36663866
57Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.31740886
58Pyruvate metabolism_Homo sapiens_hsa006201.31598697
59ABC transporters_Homo sapiens_hsa020101.31069281
60Starch and sucrose metabolism_Homo sapiens_hsa005001.30677991
61Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27564668
622-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.27165300
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.21253740
64Huntingtons disease_Homo sapiens_hsa050161.20751950
65Cardiac muscle contraction_Homo sapiens_hsa042601.19473212
66Cell cycle_Homo sapiens_hsa041101.17382911
67Serotonergic synapse_Homo sapiens_hsa047261.16257952
68Steroid biosynthesis_Homo sapiens_hsa001001.14677174
69Basal cell carcinoma_Homo sapiens_hsa052171.10011050
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.06381923
71Alzheimers disease_Homo sapiens_hsa050101.06170760
72Fatty acid biosynthesis_Homo sapiens_hsa000611.05027661
73Taste transduction_Homo sapiens_hsa047421.04961421
74Folate biosynthesis_Homo sapiens_hsa007901.04082306
75* Vitamin digestion and absorption_Homo sapiens_hsa049771.03070277
76Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.02536354
77Cysteine and methionine metabolism_Homo sapiens_hsa002701.01540357
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.00200746
79Carbon metabolism_Homo sapiens_hsa012000.99220119
80Glutamatergic synapse_Homo sapiens_hsa047240.99174847
81Biosynthesis of amino acids_Homo sapiens_hsa012300.97667353
82p53 signaling pathway_Homo sapiens_hsa041150.95838024
83Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.95075928
84Nucleotide excision repair_Homo sapiens_hsa034200.93195922
85GABAergic synapse_Homo sapiens_hsa047270.93096694
86Arginine and proline metabolism_Homo sapiens_hsa003300.91443691
87Spliceosome_Homo sapiens_hsa030400.90548999
88Maturity onset diabetes of the young_Homo sapiens_hsa049500.89666322
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89022358
90Purine metabolism_Homo sapiens_hsa002300.88913943
91Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.88653767
92Base excision repair_Homo sapiens_hsa034100.88442448
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.84224883
94Hedgehog signaling pathway_Homo sapiens_hsa043400.83834448
95Hippo signaling pathway_Homo sapiens_hsa043900.83712421
96Cyanoamino acid metabolism_Homo sapiens_hsa004600.82095817
97Morphine addiction_Homo sapiens_hsa050320.81024050
98Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.80930871
99Glycerolipid metabolism_Homo sapiens_hsa005610.79048929
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.76044457
101Circadian entrainment_Homo sapiens_hsa047130.74427438
102Olfactory transduction_Homo sapiens_hsa047400.74292306
103Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72476717
104Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.72158894
105Insulin secretion_Homo sapiens_hsa049110.71263084
106Pyrimidine metabolism_Homo sapiens_hsa002400.70950469
107Wnt signaling pathway_Homo sapiens_hsa043100.69817995
108Oocyte meiosis_Homo sapiens_hsa041140.68199349
109Glutathione metabolism_Homo sapiens_hsa004800.67099176
110Sulfur relay system_Homo sapiens_hsa041220.62509413
111TGF-beta signaling pathway_Homo sapiens_hsa043500.62411388
112Lysine degradation_Homo sapiens_hsa003100.58750803
113Vitamin B6 metabolism_Homo sapiens_hsa007500.57850267
114Pentose phosphate pathway_Homo sapiens_hsa000300.53449820
115alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51148775
116Tight junction_Homo sapiens_hsa045300.48482090
117Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45795281
118Linoleic acid metabolism_Homo sapiens_hsa005910.43921253
119Melanoma_Homo sapiens_hsa052180.43892029
120Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.40867558
121Metabolic pathways_Homo sapiens_hsa011000.40581562
122Galactose metabolism_Homo sapiens_hsa000520.34027317
123Prion diseases_Homo sapiens_hsa050200.29474175
124Adipocytokine signaling pathway_Homo sapiens_hsa049200.24844447
125Insulin resistance_Homo sapiens_hsa049310.22934493
126Glycerophospholipid metabolism_Homo sapiens_hsa005640.22754054
127One carbon pool by folate_Homo sapiens_hsa006700.19632060
128Fructose and mannose metabolism_Homo sapiens_hsa000510.18595857
129Mineral absorption_Homo sapiens_hsa049780.15545065
130Renin-angiotensin system_Homo sapiens_hsa046140.12306033
131Glucagon signaling pathway_Homo sapiens_hsa049220.05336271
132Ovarian steroidogenesis_Homo sapiens_hsa049130.04376623
133Arachidonic acid metabolism_Homo sapiens_hsa005900.03929811
134African trypanosomiasis_Homo sapiens_hsa051430.01411232
135ECM-receptor interaction_Homo sapiens_hsa04512-0.1557037
136Lysosome_Homo sapiens_hsa04142-0.1549608
137Insulin signaling pathway_Homo sapiens_hsa04910-0.1515983
138Other glycan degradation_Homo sapiens_hsa00511-0.1478511
139Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960-0.1443878
140Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1411141
141Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1340494
142Malaria_Homo sapiens_hsa05144-0.1215060
143Hepatitis C_Homo sapiens_hsa05160-0.1205119
144Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0923620
145Pertussis_Homo sapiens_hsa05133-0.0756820
146Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0600250
147Ether lipid metabolism_Homo sapiens_hsa00565-0.0568021
148Amoebiasis_Homo sapiens_hsa05146-0.0543145
149Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0417833
150Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0386775
151AMPK signaling pathway_Homo sapiens_hsa04152-0.0256741
152Protein digestion and absorption_Homo sapiens_hsa04974-0.0001103

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