TKTL1

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 transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of timing of cell differentiation (GO:0048505)9.93641447
2regulation of development, heterochronic (GO:0040034)9.15208425
3astrocyte differentiation (GO:0048708)8.22753589
4piRNA metabolic process (GO:0034587)8.21504017
5positive regulation of cell fate commitment (GO:0010455)8.12423732
6positive regulation of neuroblast proliferation (GO:0002052)7.60403813
7negative regulation of cAMP-mediated signaling (GO:0043951)7.37550659
8dorsal/ventral axis specification (GO:0009950)7.33073351
9regulation of meiosis I (GO:0060631)7.31916141
10synaptonemal complex assembly (GO:0007130)7.04708196
11hindbrain development (GO:0030902)6.97149044
12negative regulation of cytosolic calcium ion concentration (GO:0051481)6.79683544
13negative regulation of calcium ion-dependent exocytosis (GO:0045955)6.73597006
14synaptonemal complex organization (GO:0070193)6.46921048
15DNA methylation involved in gamete generation (GO:0043046)6.46124168
16gland morphogenesis (GO:0022612)5.86114391
17histone H3-K9 methylation (GO:0051567)5.46468186
18glandular epithelial cell development (GO:0002068)5.41248082
19regulation of neuroblast proliferation (GO:1902692)5.35856487
20histone H3-K9 modification (GO:0061647)5.33762021
21male meiosis (GO:0007140)5.30589647
22embryonic camera-type eye morphogenesis (GO:0048596)5.25321282
23negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)5.24782819
24mitotic metaphase plate congression (GO:0007080)5.24341642
25fibroblast migration (GO:0010761)5.14415009
26DNA replication checkpoint (GO:0000076)5.10126157
27ether lipid metabolic process (GO:0046485)5.03677771
28male meiosis I (GO:0007141)5.01962513
29meiotic nuclear division (GO:0007126)4.93495176
30meiosis I (GO:0007127)4.86835415
31meiotic chromosome segregation (GO:0045132)4.83847985
32chromosome organization involved in meiosis (GO:0070192)4.78844690
33positive regulation of neural precursor cell proliferation (GO:2000179)4.75631205
34nuclear pore organization (GO:0006999)4.63172901
35metaphase plate congression (GO:0051310)4.63076097
36opioid receptor signaling pathway (GO:0038003)4.57096619
37regulation of protein glycosylation (GO:0060049)4.55253180
38regulation of cell fate specification (GO:0042659)4.54928946
39attachment of spindle microtubules to kinetochore (GO:0008608)4.47957532
40pituitary gland development (GO:0021983)4.47725799
41neuron fate commitment (GO:0048663)4.47639899
42regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.44817461
43glandular epithelial cell differentiation (GO:0002067)4.43073521
44nuclear pore complex assembly (GO:0051292)4.40866982
45purine nucleobase biosynthetic process (GO:0009113)4.32161483
46positive regulation of cAMP-mediated signaling (GO:0043950)4.27367908
47lens development in camera-type eye (GO:0002088)4.23151733
48regulation of double-strand break repair via homologous recombination (GO:0010569)4.17718349
49meiotic cell cycle process (GO:1903046)4.16481916
50cell wall macromolecule catabolic process (GO:0016998)4.15610907
51gastrulation with mouth forming second (GO:0001702)4.14877637
52receptor catabolic process (GO:0032801)4.10446916
53reciprocal meiotic recombination (GO:0007131)4.10419959
54reciprocal DNA recombination (GO:0035825)4.10419959
55artery development (GO:0060840)4.09890409
56maturation of 5.8S rRNA (GO:0000460)4.07051402
57positive regulation of chromosome segregation (GO:0051984)4.04028694
58resolution of meiotic recombination intermediates (GO:0000712)4.03356715
59ribosome assembly (GO:0042255)3.99707833
60regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.98157665
61photoreceptor cell development (GO:0042461)3.97743917
62regulation of spindle organization (GO:0090224)3.95827016
63oocyte maturation (GO:0001556)3.95134014
64regulation of gene expression by genetic imprinting (GO:0006349)3.91107497
65oogenesis (GO:0048477)3.90483385
66ribosome biogenesis (GO:0042254)3.89958751
67mitotic chromosome condensation (GO:0007076)3.89484933
68adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.89378038
69columnar/cuboidal epithelial cell development (GO:0002066)3.84191909
70negative regulation of meiosis (GO:0045835)3.82644149
71nucleobase biosynthetic process (GO:0046112)3.80751026
72spindle checkpoint (GO:0031577)3.80538253
73behavioral response to ethanol (GO:0048149)3.80336394
74myelin assembly (GO:0032288)3.74832754
75DNA synthesis involved in DNA repair (GO:0000731)3.74601653
76adult feeding behavior (GO:0008343)3.73237461
77establishment of chromosome localization (GO:0051303)3.71381754
78regulation of chromosome segregation (GO:0051983)3.70620661
79forebrain neuron differentiation (GO:0021879)3.69060287
80kinetochore assembly (GO:0051382)3.65117604
81negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.64226440
82inner cell mass cell proliferation (GO:0001833)3.64046201
83mitotic spindle checkpoint (GO:0071174)3.63327007
84regulation of mitotic metaphase/anaphase transition (GO:0030071)3.62576761
85signal transduction involved in regulation of gene expression (GO:0023019)3.62376080
86monoubiquitinated protein deubiquitination (GO:0035520)3.61577871
87negative regulation of glial cell proliferation (GO:0060253)3.61009769
88establishment of nucleus localization (GO:0040023)3.60345366
89eye photoreceptor cell development (GO:0042462)3.59655488
90regulation of acrosome reaction (GO:0060046)3.58892102
91specification of organ identity (GO:0010092)3.58769456
92cardiac ventricle formation (GO:0003211)3.58459856
93gene silencing by RNA (GO:0031047)3.58104233
947-methylguanosine RNA capping (GO:0009452)3.58100596
95RNA capping (GO:0036260)3.58100596
96mitotic spindle assembly checkpoint (GO:0007094)3.58058630
97mannose metabolic process (GO:0006013)3.58056796
987-methylguanosine mRNA capping (GO:0006370)3.57971259
99oocyte development (GO:0048599)3.57845613
100negative regulation of chromosome segregation (GO:0051985)3.57638431
101mitotic nuclear envelope disassembly (GO:0007077)3.56745601
102protein localization to kinetochore (GO:0034501)3.55433018
103negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.53986595
104negative regulation of sister chromatid segregation (GO:0033046)3.53986595
105negative regulation of mitotic sister chromatid separation (GO:2000816)3.53986595
106negative regulation of mitotic sister chromatid segregation (GO:0033048)3.53986595
107regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.53805843
108pore complex assembly (GO:0046931)3.51521107
109spindle assembly checkpoint (GO:0071173)3.51043417
110regulation of cell fate commitment (GO:0010453)3.50190589
111notochord development (GO:0030903)3.49972630
112DNA methylation (GO:0006306)3.48711631
113DNA alkylation (GO:0006305)3.48711631
114cilium morphogenesis (GO:0060271)3.47864910
115keratinocyte development (GO:0003334)3.47338597
116kinetochore organization (GO:0051383)3.46857781
117thrombin receptor signaling pathway (GO:0070493)3.46054624
118transcription elongation from RNA polymerase I promoter (GO:0006362)3.45996502
119negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.42888647
120cell wall macromolecule metabolic process (GO:0044036)3.42570793
121termination of RNA polymerase I transcription (GO:0006363)3.41662168
122regulation of transcription involved in cell fate commitment (GO:0060850)3.39216459
123embryonic foregut morphogenesis (GO:0048617)3.39215524
124positive regulation of mitotic sister chromatid separation (GO:1901970)3.39153707
125positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.39153707
126positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.39153707
127regulation of mitotic sister chromatid separation (GO:0010965)3.38554620
128regulation of mitotic sister chromatid segregation (GO:0033047)3.38554620
129regulation of sister chromatid segregation (GO:0033045)3.38554620
130blastocyst development (GO:0001824)3.37566084
131regulation of RNA export from nucleus (GO:0046831)3.36780528
132transcription from RNA polymerase I promoter (GO:0006360)3.36130733
133sister chromatid cohesion (GO:0007062)3.33805303
134nuclear envelope disassembly (GO:0051081)3.33551972
135membrane disassembly (GO:0030397)3.33551972
136protein K6-linked ubiquitination (GO:0085020)3.33480077
137female gamete generation (GO:0007292)3.33329758
138transcription elongation from RNA polymerase III promoter (GO:0006385)3.33146127
139termination of RNA polymerase III transcription (GO:0006386)3.33146127
140embryonic eye morphogenesis (GO:0048048)3.31628395
141secondary heart field specification (GO:0003139)3.31345032
142heart field specification (GO:0003128)3.31345032
143chromatin remodeling at centromere (GO:0031055)3.30457595
144protein localization to chromosome (GO:0034502)3.30401299
145neural tube formation (GO:0001841)3.28737673
146histone exchange (GO:0043486)3.27296656
147peptidyl-lysine trimethylation (GO:0018023)3.26662310
148protein localization to chromosome, centromeric region (GO:0071459)3.26557289
149regulation of mitotic spindle organization (GO:0060236)3.24582444
150cell proliferation in forebrain (GO:0021846)3.23183452
151positive regulation of DNA-templated transcription, initiation (GO:2000144)3.23052125
152cardiac chamber formation (GO:0003207)3.22996580
153DNA replication-independent nucleosome assembly (GO:0006336)3.22162029
154DNA replication-independent nucleosome organization (GO:0034724)3.22162029
155positive regulation of meiotic cell cycle (GO:0051446)3.21121776
156meiotic cell cycle (GO:0051321)3.20557938
157positive regulation of meiosis (GO:0045836)3.20142191
158transcription elongation from RNA polymerase II promoter (GO:0006368)3.17902015
159dorsal/ventral pattern formation (GO:0009953)3.17155937
160synapsis (GO:0007129)3.16115406
161chromosome segregation (GO:0007059)3.14404652
162CENP-A containing nucleosome assembly (GO:0034080)3.13652264
163DNA replication initiation (GO:0006270)3.13366284
164negative regulation of glycoprotein biosynthetic process (GO:0010561)3.12595626
165DNA replication-dependent nucleosome organization (GO:0034723)3.11514830
166DNA replication-dependent nucleosome assembly (GO:0006335)3.11514830
167transcription initiation from RNA polymerase I promoter (GO:0006361)3.10960504
168DNA-templated transcription, elongation (GO:0006354)3.10094139
169cellular response to ATP (GO:0071318)3.09958684
170limb bud formation (GO:0060174)3.05805519
171cellular response to virus (GO:0098586)3.05238857
172Notch signaling involved in heart development (GO:0061314)3.03293520
173positive regulation of defense response to virus by host (GO:0002230)3.02774302
174retina development in camera-type eye (GO:0060041)3.02058547
175regulation of cAMP-mediated signaling (GO:0043949)2.93879201
176negative regulation of exocytosis (GO:0045920)2.92569263
177genetic imprinting (GO:0071514)2.87347570
178parental behavior (GO:0060746)2.86890444
179smoothened signaling pathway (GO:0007224)2.84757901
180regulation of neural precursor cell proliferation (GO:2000177)2.82133855
181cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.80717288
182regulation of DNA-templated transcription, initiation (GO:2000142)2.77596707
183regulation of female receptivity (GO:0045924)2.77004379
184ncRNA catabolic process (GO:0034661)2.76785936
185epithelial cilium movement (GO:0003351)2.73087796
186termination of G-protein coupled receptor signaling pathway (GO:0038032)2.71314814
187cell fate determination (GO:0001709)2.70990249
188epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.70749584
189regulation of translational termination (GO:0006449)2.69023715
190heparan sulfate proteoglycan metabolic process (GO:0030201)2.66732541
191cerebral cortex radially oriented cell migration (GO:0021799)2.65115190
192ventricular trabecula myocardium morphogenesis (GO:0003222)2.63413025
193activated T cell proliferation (GO:0050798)2.63334239
194negative regulation of granulocyte differentiation (GO:0030853)2.63232440
195epithelial cell fate commitment (GO:0072148)2.62063240
196cornea development in camera-type eye (GO:0061303)13.9366751

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.00778968
2ZFP322A_24550733_ChIP-Seq_MESCs_Mouse5.30650865
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.71396293
4MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.34590863
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.95275368
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.68083714
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.45738793
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.32466086
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.19577449
10AR_21909140_ChIP-Seq_LNCAP_Human3.17541612
11POU5F1_26923725_Chip-Seq_MESODERM_Mouse3.17368599
12TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.17368599
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.97197266
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.90919818
15AHR_22903824_ChIP-Seq_MCF-7_Human2.88855494
16TAF15_26573619_Chip-Seq_HEK293_Human2.88179528
17KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.83802927
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.83604274
19EZH2_22144423_ChIP-Seq_EOC_Human2.78972647
20GBX2_23144817_ChIP-Seq_PC3_Human2.75216675
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.74865298
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.66573965
23RXR_22108803_ChIP-Seq_LS180_Human2.54788852
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.51734299
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.51017766
26NELFA_20434984_ChIP-Seq_ESCs_Mouse2.42451294
27VDR_23849224_ChIP-Seq_CD4+_Human2.35122865
28MYC_19030024_ChIP-ChIP_MESCs_Mouse2.34645852
29SALL1_21062744_ChIP-ChIP_HESCs_Human2.30113211
30E2F1_21310950_ChIP-Seq_MCF-7_Human2.28635692
31VDR_22108803_ChIP-Seq_LS180_Human2.26310264
32MYCN_18555785_ChIP-Seq_MESCs_Mouse2.25984940
33CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.25240437
34MYC_18358816_ChIP-ChIP_MESCs_Mouse2.14222225
35EGR1_19032775_ChIP-ChIP_M12_Human2.12159517
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.11959066
37ARNT_22903824_ChIP-Seq_MCF-7_Human2.06503269
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.98930785
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.98864241
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.97400753
41XRN2_22483619_ChIP-Seq_HELA_Human1.97329932
42EGR1_19374776_ChIP-ChIP_THP-1_Human1.96815163
43HTT_18923047_ChIP-ChIP_STHdh_Human1.96545927
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.92968204
45EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.90712321
46CBP_20019798_ChIP-Seq_JUKART_Human1.88258183
47IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.88258183
48TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.88052088
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.83870988
50BCAT_22108803_ChIP-Seq_LS180_Human1.82043840
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.81803866
52TP63_19390658_ChIP-ChIP_HaCaT_Human1.81760420
53MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.81491685
54TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.77816115
55RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77778964
56KDM5A_27292631_Chip-Seq_BREAST_Human1.77571683
57GABP_19822575_ChIP-Seq_HepG2_Human1.76840200
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74988809
59EZH2_27304074_Chip-Seq_ESCs_Mouse1.72713715
60FOXP3_21729870_ChIP-Seq_TREG_Human1.71414960
61CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.71154249
62MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.70932093
63POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.69796680
64DCP1A_22483619_ChIP-Seq_HELA_Human1.69052538
65YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68885437
66P300_19829295_ChIP-Seq_ESCs_Human1.68754500
67CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.66890204
68IRF1_19129219_ChIP-ChIP_H3396_Human1.65383971
69EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65223853
70ZNF274_21170338_ChIP-Seq_K562_Hela1.64894605
71KLF4_18555785_ChIP-Seq_MESCs_Mouse1.62878802
72RNF2_27304074_Chip-Seq_NSC_Mouse1.62581782
73SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62213032
74NANOG_18555785_ChIP-Seq_MESCs_Mouse1.61709873
75FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.59376140
76KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.55454890
77KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.55454890
78KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.55454890
79NOTCH1_21737748_ChIP-Seq_TLL_Human1.55332201
80SMAD3_21741376_ChIP-Seq_EPCs_Human1.53307063
81FLI1_21867929_ChIP-Seq_TH2_Mouse1.53229300
82IGF1R_20145208_ChIP-Seq_DFB_Human1.52489694
83HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.51262892
84GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.51195178
85E2F1_18555785_ChIP-Seq_MESCs_Mouse1.49325225
86KAP1_22055183_ChIP-Seq_ESCs_Mouse1.48932147
87PADI4_21655091_ChIP-ChIP_MCF-7_Human1.47412400
88PCGF2_27294783_Chip-Seq_ESCs_Mouse1.46599596
89ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44210693
90TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.43908971
91STAT3_23295773_ChIP-Seq_U87_Human1.41573369
92MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39585985
93SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38888326
94JARID2_20064375_ChIP-Seq_MESCs_Mouse1.38569135
95RUNX2_22187159_ChIP-Seq_PCA_Human1.38338785
96TDRD3_21172665_ChIP-Seq_MCF-7_Human1.38018973
97TTF2_22483619_ChIP-Seq_HELA_Human1.37695067
98NR3C1_21868756_ChIP-Seq_MCF10A_Human1.37310423
99TCF4_23295773_ChIP-Seq_U87_Human1.35868027
100SMAD4_21799915_ChIP-Seq_A2780_Human1.35854481
101BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.34160742
102CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.33911006
103ESR1_20079471_ChIP-ChIP_T-47D_Human1.33438771
104YY1_21170310_ChIP-Seq_MESCs_Mouse1.31729732
105ZFX_18555785_ChIP-Seq_MESCs_Mouse1.30071221
106PKCTHETA_26484144_Chip-Seq_BREAST_Human1.29533545
107AUTS2_25519132_ChIP-Seq_293T-REX_Human1.27976839
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27897918
109UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27870467
110THAP11_20581084_ChIP-Seq_MESCs_Mouse1.26897225
111ELK1_19687146_ChIP-ChIP_HELA_Human1.26518558
112RNF2_27304074_Chip-Seq_ESCs_Mouse1.25026427
113HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.23872287
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.23439814
115CTBP1_25329375_ChIP-Seq_LNCAP_Human1.21846612
116NANOG_19829295_ChIP-Seq_ESCs_Human1.21438933
117SOX2_19829295_ChIP-Seq_ESCs_Human1.21438933
118KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.20186542
119CIITA_25753668_ChIP-Seq_RAJI_Human1.20182659
120LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19631970
121IRF8_21731497_ChIP-ChIP_J774_Mouse1.19529343
122TP53_22573176_ChIP-Seq_HFKS_Human1.18735634
123TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18501374
124EZH2_27294783_Chip-Seq_NPCs_Mouse1.18177191
125RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17906281
126TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15186700
127SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.14824314
128E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.13553484
129SUZ12_27294783_Chip-Seq_NPCs_Mouse1.12561994
130NFE2_27457419_Chip-Seq_LIVER_Mouse1.12475290
131NANOG_20526341_ChIP-Seq_ESCs_Human1.12415324
132WDR5_24793694_ChIP-Seq_LNCAP_Human1.12065589
133VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.11980926
134RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.11610511
135CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.11218857
136GATA1_26923725_Chip-Seq_HPCs_Mouse1.10235437
137SOX2_16153702_ChIP-ChIP_HESCs_Human1.09261854
138GATA3_21878914_ChIP-Seq_MCF-7_Human1.08866642
139PCGF2_27294783_Chip-Seq_NPCs_Mouse1.08478137
140EED_16625203_ChIP-ChIP_MESCs_Mouse1.07985345
141DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.07656747
142HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.06406823
143TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04847444
144STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04771865
145NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.04287506
146LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02998304
147SMAD4_21741376_ChIP-Seq_EPCs_Human1.02046009
148SOX2_21211035_ChIP-Seq_LN229_Gbm1.01854659
149POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.01007227
150ELK1_22589737_ChIP-Seq_MCF10A_Human1.00791827
151SMAD_19615063_ChIP-ChIP_OVARY_Human0.99496328
152HOXB4_20404135_ChIP-ChIP_EML_Mouse0.98546058
153ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98286416
154CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97161865
155CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.96729155
156SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.96700071
157KDM2B_26808549_Chip-Seq_REH_Human0.96603031
158AR_19668381_ChIP-Seq_PC3_Human0.96179048
159TP53_16413492_ChIP-PET_HCT116_Human0.96004638
160OCT4_21477851_ChIP-Seq_ESCs_Mouse0.95660856
161TBX3_20139965_ChIP-Seq_ESCs_Mouse0.94691250
162TBX3_20139965_ChIP-Seq_MESCs_Mouse0.93767320
163ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.93709182
164SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.93561994
165CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.93451728
166NANOG_21062744_ChIP-ChIP_HESCs_Human0.93397776
167BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88654270
168POU5F1_16153702_ChIP-ChIP_HESCs_Human0.88446876
169TFEB_21752829_ChIP-Seq_HELA_Human0.85465405
170PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.83939528
171POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.82455874
172FLI1_27457419_Chip-Seq_LIVER_Mouse0.82395545
173SRF_21415370_ChIP-Seq_HL-1_Mouse0.82276459
174TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.77777949
175NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.77214798
176SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.75993276
177CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.75909749
178ZNF263_19887448_ChIP-Seq_K562_Human0.75234926
179RUNX1_26923725_Chip-Seq_HPCs_Mouse0.73192716
180NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.71974596
181MYC_18940864_ChIP-ChIP_HL60_Human0.71934212
182CHD1_26751641_Chip-Seq_LNCaP_Human0.69017251
183TBX5_21415370_ChIP-Seq_HL-1_Mouse0.68726489
184RBPJ_22232070_ChIP-Seq_NCS_Mouse0.67434847
185FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65783680
186SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.64495522
187PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.63391817
188EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.61290604
189ATF3_27146783_Chip-Seq_COLON_Human0.61141746
190MYB_26560356_Chip-Seq_TH1_Human0.60983926
191MYC_22102868_ChIP-Seq_BL_Human0.60800147

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005257_abnormal_intraocular_pressure7.40070982
2MP0008877_abnormal_DNA_methylation6.76415853
3MP0002638_abnormal_pupillary_reflex5.68864836
4MP0008789_abnormal_olfactory_epithelium5.35844732
5MP0003693_abnormal_embryo_hatching5.02889607
6MP0005394_taste/olfaction_phenotype4.58704721
7MP0005499_abnormal_olfactory_system4.58704721
8MP0003111_abnormal_nucleus_morphology4.30340706
9MP0008057_abnormal_DNA_replication4.04783116
10MP0003123_paternal_imprinting3.80611486
11MP0010094_abnormal_chromosome_stability3.62601825
12MP0004957_abnormal_blastocyst_morpholog3.54523807
13MP0008995_early_reproductive_senescence3.47792924
14MP0002938_white_spotting3.46880245
15MP0003786_premature_aging3.45316102
16MP0003077_abnormal_cell_cycle3.30156966
17MP0008058_abnormal_DNA_repair3.28798545
18MP0002210_abnormal_sex_determination3.00489739
19MP0008007_abnormal_cellular_replicative2.66113726
20MP0003718_maternal_effect2.65109277
21MP0001929_abnormal_gametogenesis2.56413273
22MP0001145_abnormal_male_reproductive2.42247709
23MP0000653_abnormal_sex_gland2.25338416
24MP0001730_embryonic_growth_arrest2.22549750
25MP0008932_abnormal_embryonic_tissue1.98521107
26MP0010307_abnormal_tumor_latency1.92825018
27MP0000778_abnormal_nervous_system1.90061114
28MP0000350_abnormal_cell_proliferation1.76237346
29MP0006292_abnormal_olfactory_placode1.75570044
30MP0001661_extended_life_span1.74290366
31MP0003698_abnormal_male_reproductive1.73768867
32MP0000613_abnormal_salivary_gland1.73768689
33MP0005377_hearing/vestibular/ear_phenot1.71528731
34MP0003878_abnormal_ear_physiology1.71528731
35MP0002089_abnormal_postnatal_growth/wei1.67953344
36MP0003315_abnormal_perineum_morphology1.64138074
37MP0008260_abnormal_autophagy1.58219619
38MP0005380_embryogenesis_phenotype1.56481086
39MP0001672_abnormal_embryogenesis/_devel1.56481086
40MP0005076_abnormal_cell_differentiation1.53221063
41MP0001119_abnormal_female_reproductive1.53077930
42MP0009333_abnormal_splenocyte_physiolog1.47135948
43MP0009780_abnormal_chondrocyte_physiolo1.45984196
44MP0002396_abnormal_hematopoietic_system1.45296486
45MP0002163_abnormal_gland_morphology1.40635210
46MP0003121_genomic_imprinting1.40477128
47MP0003984_embryonic_growth_retardation1.39444162
48MP0002088_abnormal_embryonic_growth/wei1.35295901
49MP0001697_abnormal_embryo_size1.30116889
50MP0005451_abnormal_body_composition1.29244547
51MP0001968_abnormal_touch/_nociception1.28431280
52MP0002102_abnormal_ear_morphology1.27425886
53MP0002085_abnormal_embryonic_tissue1.25048737
54MP0000049_abnormal_middle_ear1.21199523
55MP0002161_abnormal_fertility/fecundity1.20473667
56MP0003699_abnormal_female_reproductive1.15580280
57MP0003646_muscle_fatigue1.15078805
58MP0002080_prenatal_lethality1.14698333
59MP0002160_abnormal_reproductive_system1.12192072
60MP0002086_abnormal_extraembryonic_tissu1.09631716
61MP0004808_abnormal_hematopoietic_stem1.06951270
62MP0002876_abnormal_thyroid_physiology1.06875924
63MP0001545_abnormal_hematopoietic_system1.04775361
64MP0005397_hematopoietic_system_phenotyp1.04775361
65MP0002084_abnormal_developmental_patter1.03482978
66MP0005395_other_phenotype1.03185821
67MP0000383_abnormal_hair_follicle1.03106768
68MP0004197_abnormal_fetal_growth/weight/1.03100828
69MP0003787_abnormal_imprinting1.02747684
70MP0010678_abnormal_skin_adnexa1.01627548
71MP0003941_abnormal_skin_development1.01235053
72MP0005248_abnormal_Harderian_gland1.00978336
73MP0002697_abnormal_eye_size0.99035841
74MP0000566_synostosis0.98384794
75MP0005646_abnormal_pituitary_gland0.97729675
76MP0009672_abnormal_birth_weight0.97627227
77MP0010234_abnormal_vibrissa_follicle0.97004937
78MP0001542_abnormal_bone_strength0.96522137
79MP0000313_abnormal_cell_death0.95960744
80MP0003221_abnormal_cardiomyocyte_apopto0.95710957
81MP0010352_gastrointestinal_tract_polyps0.95421914
82MP0001324_abnormal_eye_pigmentation0.95293610
83MP0002249_abnormal_larynx_morphology0.95119497
84MP0002019_abnormal_tumor_incidence0.93828956
85MP0000631_abnormal_neuroendocrine_gland0.93571184
86MP0003938_abnormal_ear_development0.93399633
87MP0003567_abnormal_fetal_cardiomyocyte0.93301929
88MP0000678_abnormal_parathyroid_gland0.93200993
89MP0004133_heterotaxia0.89930079
90MP0005391_vision/eye_phenotype0.89825198
91MP0002009_preneoplasia0.89822040
92MP0002653_abnormal_ependyma_morphology0.88131140
93MP0003136_yellow_coat_color0.87359029
94MP0003937_abnormal_limbs/digits/tail_de0.86008867
95MP0003936_abnormal_reproductive_system0.85341827
96MP0009053_abnormal_anal_canal0.84792268
97MP0005389_reproductive_system_phenotype0.84060203
98MP0005621_abnormal_cell_physiology0.82044980
99MP0003183_abnormal_peptide_metabolism0.80864838
100MP0005197_abnormal_uvea_morphology0.80518124
101MP0005551_abnormal_eye_electrophysiolog0.79084479
102MP0003122_maternal_imprinting0.78527903
103MP0009278_abnormal_bone_marrow0.78055703
104MP0003880_abnormal_central_pattern0.77907076
105MP0000428_abnormal_craniofacial_morphol0.77003125
106MP0005195_abnormal_posterior_eye0.75909511
107MP0001486_abnormal_startle_reflex0.74833629
108MP0005410_abnormal_fertilization0.74410389
109MP0005171_absent_coat_pigmentation0.70391922
110MP0000681_abnormal_thyroid_gland0.70165379
111MP0003119_abnormal_digestive_system0.69666773
112MP0003763_abnormal_thymus_physiology0.69436765
113MP0005647_abnormal_sex_gland0.68863757
114MP0009703_decreased_birth_body0.68326926
115MP0009046_muscle_twitch0.67689125
116MP0005384_cellular_phenotype0.67454435
117MP0000627_abnormal_mammary_gland0.67397900
118MP0001293_anophthalmia0.66852952
119MP0002177_abnormal_outer_ear0.64934387
120MP0009840_abnormal_foam_cell0.64859269
121MP0002557_abnormal_social/conspecific_i0.63323322
122MP0003755_abnormal_palate_morphology0.62573026
123MP0003448_altered_tumor_morphology0.61989089
124MP0000432_abnormal_head_morphology0.58592447
125MP0002006_tumorigenesis0.58255389
126MP0004859_abnormal_synaptic_plasticity0.54890980
127MP0002098_abnormal_vibrissa_morphology0.54470888
128MP0001485_abnormal_pinna_reflex0.54447410
129MP0003890_abnormal_embryonic-extraembry0.53380971
130MP0000703_abnormal_thymus_morphology0.52898340
131MP0009764_decreased_sensitivity_to0.52564877
132MP0001501_abnormal_sleep_pattern0.52118894
133MP0001727_abnormal_embryo_implantation0.51913818
134MP0004084_abnormal_cardiac_muscle0.51749500
135MP0002116_abnormal_craniofacial_bone0.50663651
136MP0003115_abnormal_respiratory_system0.50586643
137MP0003935_abnormal_craniofacial_develop0.50315511
138MP0005408_hypopigmentation0.49528203
139MP0005360_urolithiasis0.48860063
140MP0004858_abnormal_nervous_system0.48547956
141MP0002233_abnormal_nose_morphology0.48374069
142MP0005083_abnormal_biliary_tract0.47734636
143MP0002092_abnormal_eye_morphology0.47421909
144MP0006138_congestive_heart_failure0.46759396
145MP0002127_abnormal_cardiovascular_syste0.46303497
146MP0002752_abnormal_somatic_nervous0.46077755
147MP0004885_abnormal_endolymph0.45665003
148MP0002166_altered_tumor_susceptibility0.45089800
149MP0001286_abnormal_eye_development0.44131784
150MP0000026_abnormal_inner_ear0.43845008
151MP0002132_abnormal_respiratory_system0.43240711
152MP0001919_abnormal_reproductive_system0.43221947
153MP0000490_abnormal_crypts_of0.43169656
154MP0000955_abnormal_spinal_cord0.43119429
155MP0001963_abnormal_hearing_physiology0.42859885
156MP0005670_abnormal_white_adipose0.42813634
157MP0001340_abnormal_eyelid_morphology0.42138905
158MP0003861_abnormal_nervous_system0.41943319
159MP0000689_abnormal_spleen_morphology0.41763441
160MP0002234_abnormal_pharynx_morphology0.40301792
161MP0002111_abnormal_tail_morphology0.40252328
162MP0005253_abnormal_eye_physiology0.40024024
163MP0003633_abnormal_nervous_system0.39814048
164MP0001944_abnormal_pancreas_morphology0.38906846
165MP0002282_abnormal_trachea_morphology0.37691059
166MP0001270_distended_abdomen0.36853089
167MP0002152_abnormal_brain_morphology0.33059077

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the fovea (HP:0000493)8.14633223
2Aplasia/Hypoplasia of the macula (HP:0008059)6.76402450
3Aplasia/Hypoplasia affecting the retina (HP:0008061)6.25212614
4Difficulty running (HP:0009046)6.06889100
5Azoospermia (HP:0000027)5.98981995
6Optic nerve hypoplasia (HP:0000609)5.58362863
7Abnormal spermatogenesis (HP:0008669)5.54803956
8Thyroid-stimulating hormone excess (HP:0002925)5.25869119
9Volvulus (HP:0002580)4.97377635
10Aplasia/Hypoplasia of the optic nerve (HP:0008058)4.94482699
11Birth length less than 3rd percentile (HP:0003561)4.91800027
12Intestinal atresia (HP:0011100)4.58859160
13Optic nerve coloboma (HP:0000588)4.40431802
14Carpal bone hypoplasia (HP:0001498)4.25977041
15Breast hypoplasia (HP:0003187)4.24286129
16Impulsivity (HP:0100710)4.18290922
17Facial hemangioma (HP:0000329)3.83462925
18Irregular epiphyses (HP:0010582)3.68927134
19High anterior hairline (HP:0009890)3.68634325
20Patellar aplasia (HP:0006443)3.67688849
21Poor head control (HP:0002421)3.66195242
22Keratitis (HP:0000491)3.66187993
23Chromsome breakage (HP:0040012)3.66175790
24Broad alveolar ridges (HP:0000187)3.65444599
25Tented upper lip vermilion (HP:0010804)3.56167493
26Chromosomal breakage induced by crosslinking agents (HP:0003221)3.52800557
27Aplasia/Hypoplasia of the patella (HP:0006498)3.51227728
28Aplasia/Hypoplasia affecting the fundus (HP:0008057)3.47849232
29Capillary hemangiomas (HP:0005306)3.43872347
30Rough bone trabeculation (HP:0100670)3.30301789
31Cerebral hypomyelination (HP:0006808)3.24076073
32Abnormality of the labia minora (HP:0012880)3.22467354
33Hypoplasia of the capital femoral epiphysis (HP:0003090)3.20496651
34Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.19875299
35Secondary amenorrhea (HP:0000869)3.13975679
36Meckel diverticulum (HP:0002245)2.95631959
37Gonadotropin excess (HP:0000837)2.94836589
38Absent epiphyses (HP:0010577)2.94251149
39Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.94251149
40Mask-like facies (HP:0000298)2.93281785
41Hip dysplasia (HP:0001385)2.88438394
42Male infertility (HP:0003251)2.87354497
43Wrist flexion contracture (HP:0001239)2.85486792
44Neoplasm of the adrenal cortex (HP:0100641)2.84080059
45Abnormality of the fingertips (HP:0001211)2.81737942
46Congenital glaucoma (HP:0001087)2.80532682
47Abnormality of chromosome stability (HP:0003220)2.75974227
48Ankle contracture (HP:0006466)2.75039632
49Absent rod-and cone-mediated responses on ERG (HP:0007688)2.73840088
50Aplasia/Hypoplasia of the lens (HP:0008063)2.71744652
51Oligodactyly (HP:0012165)2.67803591
52Abnormality of the ileum (HP:0001549)2.66531352
53Adrenal hypoplasia (HP:0000835)2.64598684
54Abnormality of the preputium (HP:0100587)2.64570573
55Small epiphyses (HP:0010585)2.61447847
56Ureteral duplication (HP:0000073)2.60850475
57Premature ovarian failure (HP:0008209)2.60805338
58Flat capital femoral epiphysis (HP:0003370)2.58857345
59Absent radius (HP:0003974)2.58536875
60Pendular nystagmus (HP:0012043)2.56999455
61Thickened helices (HP:0000391)2.55443116
62True hermaphroditism (HP:0010459)2.53563470
63Hip contracture (HP:0003273)2.53326455
64Entropion (HP:0000621)2.53027979
65Oligodactyly (hands) (HP:0001180)2.43416210
66Large eyes (HP:0001090)2.43062768
67Spinal muscular atrophy (HP:0007269)2.40760791
68Aplasia involving forearm bones (HP:0009822)2.39693880
69Absent forearm bone (HP:0003953)2.39693880
70Abnormal trabecular bone morphology (HP:0100671)2.35732892
71Stillbirth (HP:0003826)2.35422747
72Supernumerary spleens (HP:0009799)2.34593976
73Prominent nose (HP:0000448)2.33058056
74Aplasia/Hypoplasia involving the musculature (HP:0001460)2.30536154
75Ectopic kidney (HP:0000086)2.29614163
76Gastrointestinal atresia (HP:0002589)2.26699514
77Short 4th metacarpal (HP:0010044)2.25749651
78Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.25749651
79Abnormal rod and cone electroretinograms (HP:0008323)2.25560930
80Shawl scrotum (HP:0000049)2.25232369
81Generalized hyperpigmentation (HP:0007440)2.23102688
82Aplasia/Hypoplasia of the uvula (HP:0010293)2.22932700
83Papillary thyroid carcinoma (HP:0002895)2.22906718
84Abnormality of the anterior horn cell (HP:0006802)2.22318768
85Degeneration of anterior horn cells (HP:0002398)2.22318768
86Achilles tendon contracture (HP:0001771)2.22063072
87CNS hypomyelination (HP:0003429)2.21475771
88Urethral obstruction (HP:0000796)2.18794444
89Abnormality of the epiphysis of the femoral head (HP:0010574)2.18021909
90Pancreatic islet-cell hyperplasia (HP:0004510)2.17719131
91Breast aplasia (HP:0100783)2.17220060
92Oral leukoplakia (HP:0002745)2.16073580
93Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.15496198
94Abnormality of femoral epiphyses (HP:0006499)2.15496198
95Aplasia/Hypoplasia of the earlobes (HP:0009906)2.14657492
96Short thumb (HP:0009778)2.13222951
97Aplasia/Hypoplasia of the spleen (HP:0010451)2.09668617
98Abnormality of the femoral head (HP:0003368)2.08437078
99Asplenia (HP:0001746)2.06547157
100Abnormality of the umbilical cord (HP:0010881)2.06436723
101Pelvic girdle muscle weakness (HP:0003749)2.05622299
102Abnormality of the aortic arch (HP:0012303)2.04935193
103Muscular dystrophy (HP:0003560)2.03755681
104Aplasia/Hypoplasia of the breasts (HP:0010311)2.02989777
105Lissencephaly (HP:0001339)2.02820424
106Horseshoe kidney (HP:0000085)2.01975842
107Microglossia (HP:0000171)2.01147453
108Hypoplasia of the fovea (HP:0007750)10.0202506
109Aplasia/Hypoplasia of the fovea (HP:0008060)10.0202506
110Neoplasm of the pancreas (HP:0002894)1.97960076
111Short tibia (HP:0005736)1.97376041
112Aqueductal stenosis (HP:0002410)1.97359275
113Colon cancer (HP:0003003)1.97325357
114Absent thumb (HP:0009777)1.96990534
115Vacuolated lymphocytes (HP:0001922)1.96930259
116Sparse lateral eyebrow (HP:0005338)1.96637224
117Nephroblastoma (Wilms tumor) (HP:0002667)1.96343475
118Retinal detachment (HP:0000541)1.96155020
119Squamous cell carcinoma (HP:0002860)1.93519977
120Prostate neoplasm (HP:0100787)1.93146017
121Small intestinal stenosis (HP:0012848)1.93036305
122Duodenal stenosis (HP:0100867)1.93036305
123Fibular hypoplasia (HP:0003038)1.92572680
124Abnormality of the Achilles tendon (HP:0005109)1.91901113
125Bone marrow hypocellularity (HP:0005528)1.90852409
126Cerebellar hypoplasia (HP:0001321)1.90549496
127Selective tooth agenesis (HP:0001592)1.89912586
128Glucose intolerance (HP:0000833)1.88798752
129Shoulder girdle muscle weakness (HP:0003547)1.88734349
130Embryonal renal neoplasm (HP:0011794)1.87175253
131Dyskinesia (HP:0100660)1.87031452
132Tetraplegia (HP:0002445)1.84787637
133Focal motor seizures (HP:0011153)1.81774671
134Abnormality of male internal genitalia (HP:0000022)1.81408927
135Decreased central vision (HP:0007663)1.81105613
136Pancreatic cysts (HP:0001737)1.81071453
137Septo-optic dysplasia (HP:0100842)1.78344043
138Abnormality of the lower motor neuron (HP:0002366)1.77899100
139Myositis (HP:0100614)1.74731760
140Abnormality of abdominal situs (HP:0011620)1.74637911
141Abdominal situs inversus (HP:0003363)1.74637911
142Abnormality of the 4th metacarpal (HP:0010012)1.74241664
143Atrophy/Degeneration involving motor neurons (HP:0007373)1.73987969
144Agitation (HP:0000713)1.73909163
145Hyperglycinemia (HP:0002154)1.73602971
146Muscle fiber splitting (HP:0003555)1.73338104
147Renal dysplasia (HP:0000110)1.73250696
148Congenital stationary night blindness (HP:0007642)1.73085931
149Aplasia/Hypoplasia of the tibia (HP:0005772)1.72415545
150Tracheoesophageal fistula (HP:0002575)1.70757648
151IgG deficiency (HP:0004315)1.70184930
152Long eyelashes (HP:0000527)1.69849873
153Cafe-au-lait spot (HP:0000957)1.69452856
154Aplasia/Hypoplasia of the ulna (HP:0006495)1.69255010
155Patent foramen ovale (HP:0001655)1.68707077
156Abnormality of the proximal phalanges of the hand (HP:0009834)1.68283634
157Hypoplasia of the brainstem (HP:0002365)1.67826721
158Aplasia/Hypoplasia of the brainstem (HP:0007362)1.67826721
159Limited hip movement (HP:0008800)1.66638054
160Corneal dystrophy (HP:0001131)1.66470789
161Short palpebral fissure (HP:0012745)1.59197226
162Large for gestational age (HP:0001520)1.58425374
163Iris coloboma (HP:0000612)1.58315855
164Rib fusion (HP:0000902)1.57814909
165Rhabdomyosarcoma (HP:0002859)1.56972622
166Broad-based gait (HP:0002136)1.56884289
167Orchitis (HP:0100796)1.56576633
168Hyperglycinuria (HP:0003108)1.56343182
169Pancreatic fibrosis (HP:0100732)1.53200734
170Microcornea (HP:0000482)1.52676311
171Holoprosencephaly (HP:0001360)1.52481496
172Increased corneal curvature (HP:0100692)1.51002492
173Keratoconus (HP:0000563)1.51002492
174Abnormality of cochlea (HP:0000375)1.50436370
175Hypochromic microcytic anemia (HP:0004840)1.50213254
176Biliary tract neoplasm (HP:0100574)1.49672774
177Hemivertebrae (HP:0002937)1.48664350
178Tubular atrophy (HP:0000092)1.47902402
179Scapular winging (HP:0003691)1.47852827
180Attenuation of retinal blood vessels (HP:0007843)1.44131132
181Anencephaly (HP:0002323)1.43902621
182Type II lissencephaly (HP:0007260)1.42063585
183Renal hypoplasia (HP:0000089)1.41144069
184Vitreoretinal degeneration (HP:0000655)1.39509858
185Congenital sensorineural hearing impairment (HP:0008527)1.34518660

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK135.32690991
2ADRBK24.74591973
3PTK2B4.72620048
4WEE14.30090741
5BUB14.05118921
6CDK123.69942218
7CDC73.67177337
8HIPK23.55122262
9STK38L3.53719876
10FRK3.47693083
11IRAK23.43453069
12PLK43.34166960
13NEK23.18132185
14ACVR1B2.92578934
15LATS22.72252003
16IRAK12.61498997
17LATS12.51145176
18EIF2AK12.41716747
19STK32.40581581
20IRAK32.36472349
21TTK2.36057093
22BRSK22.33280255
23SRPK12.32122786
24CDK192.30614530
25PLK12.28636656
26MAP3K102.16882838
27PLK32.15810965
28TAOK32.15400712
29EPHB22.05853968
30MARK12.04248436
31TSSK61.96163457
32MKNK21.82574632
33ZAK1.80503653
34NUAK11.76224967
35STK241.72224281
36EPHA41.64847858
37EIF2AK31.59146242
38PAK61.57395969
39CHEK21.56818973
40NEK91.50622734
41BRSK11.46848602
42FES1.40910599
43BRD41.40121217
44CDK71.37383736
45CHEK11.36139068
46AURKB1.32808678
47MARK21.31291505
48MAPK71.29855203
49AKT31.25145709
50ATR1.23004934
51YES11.22326980
52EPHA21.20793339
53BCKDK1.20408720
54STK161.19062117
55PDK41.18198716
56PDK31.18198716
57ERN11.17475758
58DYRK31.15094187
59MELK1.13429622
60TNIK1.08350247
61CDK41.07304767
62MOS1.05376039
63PRKCG1.00588824
64KSR20.99757314
65ICK0.99507385
66MKNK10.99503545
67ATM0.99380204
68NTRK20.99366153
69ADRBK10.94864306
70NEK10.94382752
71PDK20.92429050
72CDK20.85895488
73PKN10.84327210
74PNCK0.80588554
75AURKA0.77318691
76GRK10.76590025
77STK390.76296612
78DYRK1B0.75959486
79PKN20.75842906
80CSNK1A1L0.73700930
81CSNK1G10.73268201
82CDK10.72940996
83STK380.70390192
84VRK10.69981322
85RAF10.69760802
86PINK10.66786183
87NME20.66745526
88PIM10.65931644
89CDK90.65910759
90RPS6KB20.65865274
91OXSR10.62694040
92CCNB10.61404068
93MAP2K40.60773709
94PRKCI0.60465856
95WNK40.60421788
96NLK0.60215955
97STK40.57712646
98CSK0.56992592
99MTOR0.56277283
100MAP2K70.55597592
101CSNK1G30.55594357
102TGFBR10.55520071
103RPS6KB10.54226329
104EIF2AK20.53569735
105EPHB10.52439768
106INSRR0.51434851
107ALK0.51042444
108MAP3K70.49671421
109CHUK0.49380460
110CDK30.48883119
111ABL20.48672803
112CSNK1A10.48353697
113RPS6KL10.48315861
114RPS6KC10.48315861
115RPS6KA60.47242971
116PAK30.47152814
117MAPK150.47058481
118SGK20.46562971
119CDK80.46555371
120MARK30.45621557
121PRKCE0.44660147
122TXK0.44612287
123VRK20.42906751
124PRKAA10.42874754
125KSR10.42789301
126CSNK1G20.42728186
127MAP3K80.42367697
128CSNK2A10.40322468
129ZAP700.38074751
130PRKCZ0.38057550
131BMPR1B0.37964030
132CSNK2A20.37637989
133TESK20.37084164
134TAOK10.36411779
135WNK30.35967374
136CAMK1D0.35497338
137MAP3K110.35484402
138PAK10.35426078
139LYN0.35385046
140ERBB20.34865435
141PLK20.34631788
142SGK10.34515576
143CSNK1E0.34249613
144MAP3K40.33136900
145GRK70.33063192
146MAP3K30.32384953
147RPS6KA20.32095300
148DYRK1A0.31973437
149CSNK1D0.31579276
150MAP2K10.31371502
151RPS6KA40.30904235
152TEC0.30777560
153AKT10.30489627
154GSK3B0.30416696
155IRAK40.29581997
156PTK60.27946421
157KDR0.27731919
158MAPK100.26575687
159BTK0.25718544
160TYRO30.24821047
161TNK20.23566431
162DYRK20.23241110
163PRKDC0.23108722
164MAPK140.22750555
165STK100.21343644
166BRAF0.21332788
167JAK30.20658593
168TLK10.18640278
169MAPK80.18610200
170ABL10.17701337

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.99008037
2RNA polymerase_Homo sapiens_hsa030204.94794013
3Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005344.70773492
4Vitamin B6 metabolism_Homo sapiens_hsa007504.16505405
5Maturity onset diabetes of the young_Homo sapiens_hsa049504.15179902
6Steroid biosynthesis_Homo sapiens_hsa001003.91075947
7Basal transcription factors_Homo sapiens_hsa030223.67017548
8RNA transport_Homo sapiens_hsa030133.53651640
9Other glycan degradation_Homo sapiens_hsa005113.46847699
10Cell cycle_Homo sapiens_hsa041103.45826929
11Proteasome_Homo sapiens_hsa030503.03578550
12Homologous recombination_Homo sapiens_hsa034402.98014749
13DNA replication_Homo sapiens_hsa030302.91940258
14Mismatch repair_Homo sapiens_hsa034302.80873358
15Glycosaminoglycan degradation_Homo sapiens_hsa005312.67291389
16Spliceosome_Homo sapiens_hsa030402.56698209
17Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.53564629
18Fanconi anemia pathway_Homo sapiens_hsa034602.46981501
19Pyrimidine metabolism_Homo sapiens_hsa002402.34626079
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.30689858
21Nucleotide excision repair_Homo sapiens_hsa034202.24451696
22p53 signaling pathway_Homo sapiens_hsa041152.24444423
23mRNA surveillance pathway_Homo sapiens_hsa030152.07637905
24Basal cell carcinoma_Homo sapiens_hsa052172.01018184
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.86602392
26Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.82021181
27RNA degradation_Homo sapiens_hsa030181.80095955
28Olfactory transduction_Homo sapiens_hsa047401.79372367
29Base excision repair_Homo sapiens_hsa034101.78716330
30Oocyte meiosis_Homo sapiens_hsa041141.75221691
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.73754514
32Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.68533634
33Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.61259140
34Purine metabolism_Homo sapiens_hsa002301.55539747
35Phototransduction_Homo sapiens_hsa047441.52914650
36Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.48811706
37Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.44943316
38Epstein-Barr virus infection_Homo sapiens_hsa051691.40263338
39Regulation of autophagy_Homo sapiens_hsa041401.36661372
40Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.34584066
41Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.34234182
42Ovarian steroidogenesis_Homo sapiens_hsa049131.30835293
43Steroid hormone biosynthesis_Homo sapiens_hsa001401.30784897
44Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.26661509
45Herpes simplex infection_Homo sapiens_hsa051681.18182344
46Axon guidance_Homo sapiens_hsa043601.13537881
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.12557992
48One carbon pool by folate_Homo sapiens_hsa006701.08902903
49Non-homologous end-joining_Homo sapiens_hsa034501.06458082
50TGF-beta signaling pathway_Homo sapiens_hsa043501.04333425
51Vitamin digestion and absorption_Homo sapiens_hsa049770.95551510
52Glycerophospholipid metabolism_Homo sapiens_hsa005640.93147380
53Antigen processing and presentation_Homo sapiens_hsa046120.89078206
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.88515219
55Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87145852
56Morphine addiction_Homo sapiens_hsa050320.85721800
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.82872374
58Cysteine and methionine metabolism_Homo sapiens_hsa002700.77920080
59RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.77300492
60Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75665562
61HTLV-I infection_Homo sapiens_hsa051660.75173024
62Dorso-ventral axis formation_Homo sapiens_hsa043200.74171033
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.71985259
64Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.70097514
65Butanoate metabolism_Homo sapiens_hsa006500.69808203
66ABC transporters_Homo sapiens_hsa020100.69132621
67Wnt signaling pathway_Homo sapiens_hsa043100.68716951
68* Pentose phosphate pathway_Homo sapiens_hsa000300.65929190
69Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.64645151
70Viral carcinogenesis_Homo sapiens_hsa052030.63753716
71FoxO signaling pathway_Homo sapiens_hsa040680.63300917
72MicroRNAs in cancer_Homo sapiens_hsa052060.62623903
73Circadian rhythm_Homo sapiens_hsa047100.61031432
74Endometrial cancer_Homo sapiens_hsa052130.60642330
75Folate biosynthesis_Homo sapiens_hsa007900.59491957
76Small cell lung cancer_Homo sapiens_hsa052220.57603422
77Melanogenesis_Homo sapiens_hsa049160.55664128
78Viral myocarditis_Homo sapiens_hsa054160.52723069
79Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.51893256
80Influenza A_Homo sapiens_hsa051640.51092666
81Hippo signaling pathway_Homo sapiens_hsa043900.50746065
82cAMP signaling pathway_Homo sapiens_hsa040240.48734953
83Taste transduction_Homo sapiens_hsa047420.47991507
84NF-kappa B signaling pathway_Homo sapiens_hsa040640.47845377
85Selenocompound metabolism_Homo sapiens_hsa004500.47485055
86Prostate cancer_Homo sapiens_hsa052150.47330901
87Adherens junction_Homo sapiens_hsa045200.47158215
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46844041
89mTOR signaling pathway_Homo sapiens_hsa041500.46083826
90Thyroid cancer_Homo sapiens_hsa052160.45742760
91Ribosome_Homo sapiens_hsa030100.44641837
92Chemokine signaling pathway_Homo sapiens_hsa040620.44266986
93Propanoate metabolism_Homo sapiens_hsa006400.40640457
94Sphingolipid metabolism_Homo sapiens_hsa006000.40507028
95Measles_Homo sapiens_hsa051620.40473103
96Osteoclast differentiation_Homo sapiens_hsa043800.40245380
97Primary immunodeficiency_Homo sapiens_hsa053400.37859064
98Lysine degradation_Homo sapiens_hsa003100.37502832
99Hepatitis B_Homo sapiens_hsa051610.36978267
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.36685797
101Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.34834811
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33859736
103Intestinal immune network for IgA production_Homo sapiens_hsa046720.33681787
104Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33420011
105Renal cell carcinoma_Homo sapiens_hsa052110.32531658
106Notch signaling pathway_Homo sapiens_hsa043300.30638450
107B cell receptor signaling pathway_Homo sapiens_hsa046620.30459287
108Colorectal cancer_Homo sapiens_hsa052100.29638985
109Legionellosis_Homo sapiens_hsa051340.29252990
110Linoleic acid metabolism_Homo sapiens_hsa005910.28171294
111Ether lipid metabolism_Homo sapiens_hsa005650.28026518
112Apoptosis_Homo sapiens_hsa042100.28021040
113Pancreatic cancer_Homo sapiens_hsa052120.26552569
114Nitrogen metabolism_Homo sapiens_hsa009100.26271348
115Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.25857567
116Pathways in cancer_Homo sapiens_hsa052000.25049731
117Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24926846
118Malaria_Homo sapiens_hsa051440.24520173
119Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.24026947
120Inositol phosphate metabolism_Homo sapiens_hsa005620.23175890
121Starch and sucrose metabolism_Homo sapiens_hsa005000.22444759
122NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22137303
123Allograft rejection_Homo sapiens_hsa053300.21918379
124Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.21646763
125Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.21560567
126Jak-STAT signaling pathway_Homo sapiens_hsa046300.21039488
127Type II diabetes mellitus_Homo sapiens_hsa049300.20956634
128Staphylococcus aureus infection_Homo sapiens_hsa051500.20898067
129Estrogen signaling pathway_Homo sapiens_hsa049150.20488718
130Circadian entrainment_Homo sapiens_hsa047130.19187281
131Tight junction_Homo sapiens_hsa045300.19094343
132Calcium signaling pathway_Homo sapiens_hsa040200.18610520
133Transcriptional misregulation in cancer_Homo sapiens_hsa052020.18548447
134Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.17879854
135HIF-1 signaling pathway_Homo sapiens_hsa040660.16960233
136alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.16371986
137Glycerolipid metabolism_Homo sapiens_hsa005610.16000443
138Hedgehog signaling pathway_Homo sapiens_hsa043400.14654997
139Arachidonic acid metabolism_Homo sapiens_hsa005900.14315198
140ECM-receptor interaction_Homo sapiens_hsa045120.14156474
141Glutathione metabolism_Homo sapiens_hsa004800.14046864
142Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.13304938
143Mineral absorption_Homo sapiens_hsa049780.13120184
144T cell receptor signaling pathway_Homo sapiens_hsa046600.12793248
145Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.12050922
146Graft-versus-host disease_Homo sapiens_hsa053320.11388177
147Shigellosis_Homo sapiens_hsa051310.10721593
148Cyanoamino acid metabolism_Homo sapiens_hsa004600.09939599
149Autoimmune thyroid disease_Homo sapiens_hsa053200.07342861
150Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.07320603
151Choline metabolism in cancer_Homo sapiens_hsa052310.04843468
152* Metabolic pathways_Homo sapiens_hsa011000.04273613

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