CMAS

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





Description: This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protoporphyrinogen IX metabolic process (GO:0046501)6.05881480
2protoporphyrinogen IX biosynthetic process (GO:0006782)5.19530674
3synaptic vesicle maturation (GO:0016188)4.43788855
4porphyrin-containing compound biosynthetic process (GO:0006779)4.43038924
5regulation of short-term neuronal synaptic plasticity (GO:0048172)4.25493060
6establishment of integrated proviral latency (GO:0075713)4.20478623
7proteasome assembly (GO:0043248)4.17479491
8CENP-A containing nucleosome assembly (GO:0034080)4.00807241
9cullin deneddylation (GO:0010388)3.99681328
10negative regulation of microtubule polymerization (GO:0031115)3.99392453
11erythrocyte maturation (GO:0043249)3.99279469
12tetrapyrrole biosynthetic process (GO:0033014)3.95289453
13chromatin remodeling at centromere (GO:0031055)3.90704275
14synaptic vesicle exocytosis (GO:0016079)3.89060834
15heme biosynthetic process (GO:0006783)3.81532923
16protein deneddylation (GO:0000338)3.80275161
17layer formation in cerebral cortex (GO:0021819)3.78838526
18glutamate secretion (GO:0014047)3.73722660
19positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.71360993
20neurotransmitter secretion (GO:0007269)3.62156493
21histone exchange (GO:0043486)3.58815131
22nucleobase catabolic process (GO:0046113)3.56889540
23negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.54347680
24porphyrin-containing compound metabolic process (GO:0006778)3.53491337
25regulation of mitochondrial translation (GO:0070129)3.46488799
26vocalization behavior (GO:0071625)3.45205244
27establishment of viral latency (GO:0019043)3.36126739
28L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.34777796
29regulation of synaptic vesicle exocytosis (GO:2000300)3.30018153
30activation of protein kinase A activity (GO:0034199)3.24391170
31pyrimidine nucleobase catabolic process (GO:0006208)3.23796952
32DNA replication-independent nucleosome assembly (GO:0006336)3.20294969
33DNA replication-independent nucleosome organization (GO:0034724)3.20294969
34purine nucleobase biosynthetic process (GO:0009113)3.16971232
35hemoglobin metabolic process (GO:0020027)3.14156133
36regulation of long-term neuronal synaptic plasticity (GO:0048169)3.13456905
37oxidative phosphorylation (GO:0006119)3.12564139
38DNA damage response, detection of DNA damage (GO:0042769)3.10758148
39ribosome assembly (GO:0042255)3.10186446
40exploration behavior (GO:0035640)3.09700829
41proline transport (GO:0015824)3.09097135
42response to insecticide (GO:0017085)3.08778943
43regulation of synaptic vesicle transport (GO:1902803)3.04798895
44chaperone-mediated protein transport (GO:0072321)3.04546504
45DNA strand elongation involved in DNA replication (GO:0006271)3.03902987
46pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.03607352
47catecholamine transport (GO:0051937)3.03429139
48negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.02861240
49IMP biosynthetic process (GO:0006188)3.01101726
50sodium ion export (GO:0071436)3.00624989
51regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.00498637
52pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.98020390
53plasma lipoprotein particle assembly (GO:0034377)2.96977461
54clathrin coat assembly (GO:0048268)2.96432205
55neurotransmitter transport (GO:0006836)2.95687972
56heme metabolic process (GO:0042168)2.94475735
57deoxyribose phosphate biosynthetic process (GO:0046385)2.93554966
582-deoxyribonucleotide biosynthetic process (GO:0009265)2.93554966
59protein targeting to Golgi (GO:0000042)2.92442827
60telomere maintenance via semi-conservative replication (GO:0032201)2.92003260
61actin filament capping (GO:0051693)2.91447834
62de novo protein folding (GO:0006458)2.89351779
63regulation of glutamate receptor signaling pathway (GO:1900449)2.88869753
64DNA strand elongation (GO:0022616)2.88703966
65deoxyribonucleotide biosynthetic process (GO:0009263)2.87694934
66positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.86889790
67regulation of neurotransmitter levels (GO:0001505)2.85331083
68regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.82959884
69anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.82755392
70response to methylmercury (GO:0051597)2.82349261
71G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.79201340
72mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.78074367
73galactose catabolic process (GO:0019388)2.75871072
74protein localization to synapse (GO:0035418)2.75260682
75cholesterol biosynthetic process (GO:0006695)2.74967573
76positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.74722844
77peptidyl-lysine dimethylation (GO:0018027)2.74273986
78protein neddylation (GO:0045116)2.73628908
79de novo posttranslational protein folding (GO:0051084)2.73347869
80DNA ligation (GO:0006266)2.73024889
81regulation of cellular amino acid metabolic process (GO:0006521)2.71616455
82regulation of ARF protein signal transduction (GO:0032012)2.71421812
83negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.70997956
84negative regulation of ligase activity (GO:0051352)2.70997956
85positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.70758860
86tRNA aminoacylation for protein translation (GO:0006418)2.70255610
87deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.66411802
88neurotransmitter biosynthetic process (GO:0042136)2.66060293
89DNA replication checkpoint (GO:0000076)2.66026485
90dopamine transport (GO:0015872)2.65695145
91protein maturation by protein folding (GO:0022417)2.65473136
92megakaryocyte development (GO:0035855)2.65396338
93protein targeting to mitochondrion (GO:0006626)2.64879183
94retrograde transport, vesicle recycling within Golgi (GO:0000301)2.63689952
95synaptic vesicle docking involved in exocytosis (GO:0016081)2.62856967
96embryonic hemopoiesis (GO:0035162)2.62841703
97fatty acid elongation (GO:0030497)2.62659596
98establishment of protein localization to Golgi (GO:0072600)2.62366059
99L-methionine salvage (GO:0071267)2.61420689
100L-methionine biosynthetic process (GO:0071265)2.61420689
101amino acid salvage (GO:0043102)2.61420689
102tRNA aminoacylation (GO:0043039)2.60749738
103amino acid activation (GO:0043038)2.60749738
104UDP-N-acetylglucosamine metabolic process (GO:0006047)2.60528689
105tricarboxylic acid cycle (GO:0006099)2.60367777
106regulation of neuronal synaptic plasticity (GO:0048168)2.60213283
107positive regulation of ligase activity (GO:0051351)2.60009605
108heparin metabolic process (GO:0030202)2.59599518
109heparin biosynthetic process (GO:0030210)2.59599518
110ATP-dependent chromatin remodeling (GO:0043044)2.59533645
111triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.59485760
112locomotory exploration behavior (GO:0035641)2.59345845
113protein-lipid complex assembly (GO:0065005)2.58817427
114regulation of cAMP-dependent protein kinase activity (GO:2000479)2.58204727
115regulation of synapse structural plasticity (GO:0051823)2.57316227
116nucleobase biosynthetic process (GO:0046112)2.55625242
117IMP metabolic process (GO:0046040)2.55343899
118regulation of Rac protein signal transduction (GO:0035020)2.54595601
119L-alpha-amino acid transmembrane transport (GO:1902475)2.54421369
120sterol biosynthetic process (GO:0016126)2.52576268
121regulation of oxidative phosphorylation (GO:0002082)2.52457081
122flavonoid metabolic process (GO:0009812)2.52429313
123L-serine metabolic process (GO:0006563)2.52292011
124negative regulation of erythrocyte differentiation (GO:0045647)2.52037596
125definitive hemopoiesis (GO:0060216)2.51774161
126protein localization to mitochondrion (GO:0070585)2.51616823
127response to histamine (GO:0034776)2.51302950
128regulation of ubiquitin-protein transferase activity (GO:0051438)2.50480834
129regulation of helicase activity (GO:0051095)2.50038297
130regulation of clathrin-mediated endocytosis (GO:2000369)2.49619587
131regulation of cofactor metabolic process (GO:0051193)2.49282065
132regulation of coenzyme metabolic process (GO:0051196)2.49282065
133negative regulation of DNA recombination (GO:0045910)2.48959978
134cellular ketone body metabolic process (GO:0046950)2.48764388
135phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.47832434
136regulation of mitotic spindle checkpoint (GO:1903504)2.46140287
137regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.46140287
138mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.45837116
139deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.45376029
140negative regulation of protein polymerization (GO:0032272)2.45294409
141pyrimidine nucleotide catabolic process (GO:0006244)2.45143837
142establishment of protein localization to mitochondrion (GO:0072655)2.44936645
143neuron cell-cell adhesion (GO:0007158)2.44863664
144regulation of ligase activity (GO:0051340)2.42286516
145synaptic vesicle endocytosis (GO:0048488)2.42277659
146regulation of erythrocyte differentiation (GO:0045646)2.42211282
147myeloid cell development (GO:0061515)2.41604062
148erythrocyte development (GO:0048821)2.41371332
149metallo-sulfur cluster assembly (GO:0031163)2.41074743
150iron-sulfur cluster assembly (GO:0016226)2.41074743
151protein K11-linked ubiquitination (GO:0070979)2.40665163
152positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.40650830
153N-glycan processing (GO:0006491)2.40010481
154branched-chain amino acid catabolic process (GO:0009083)2.39770315
155cysteine metabolic process (GO:0006534)2.39679565
156hepatocyte apoptotic process (GO:0097284)2.39647462
157DNA double-strand break processing (GO:0000729)2.39086491
158telomere maintenance via recombination (GO:0000722)2.38543975
159synaptic vesicle transport (GO:0048489)2.37980679
160establishment of synaptic vesicle localization (GO:0097480)2.37980679
161glutamate metabolic process (GO:0006536)2.37610679
162peptidyl-arginine N-methylation (GO:0035246)2.37533246
163peptidyl-arginine methylation (GO:0018216)2.37533246
164formation of translation preinitiation complex (GO:0001731)2.37510234
165mitotic recombination (GO:0006312)2.37235740
166proline biosynthetic process (GO:0006561)2.36997063
167Peyers patch development (GO:0048541)2.36950989
168mucosal-associated lymphoid tissue development (GO:0048537)2.36950989
169positive regulation of mitochondrial fission (GO:0090141)2.36857534
170negative regulation of cell killing (GO:0031342)2.36770152
171negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.36770152
172spliceosomal snRNP assembly (GO:0000387)2.36014243
173cytoskeletal anchoring at plasma membrane (GO:0007016)2.35872831
174peptidyl-arginine omega-N-methylation (GO:0035247)2.35628422
175cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.35610976
176very-low-density lipoprotein particle assembly (GO:0034379)2.35464578
177DNA topological change (GO:0006265)2.34182109
178non-recombinational repair (GO:0000726)2.34145901
179double-strand break repair via nonhomologous end joining (GO:0006303)2.34145901
180DNA unwinding involved in DNA replication (GO:0006268)2.33461756
181positive regulation of synapse maturation (GO:0090129)2.33207442
182oxaloacetate metabolic process (GO:0006107)2.32989018
183regulation of actin nucleation (GO:0051125)2.32645560
184cerebellar Purkinje cell layer development (GO:0021680)2.32102776
185intestinal absorption (GO:0050892)2.32100396
186dendritic spine morphogenesis (GO:0060997)2.32097316
187negative regulation of cholesterol transport (GO:0032375)2.31564625
188negative regulation of sterol transport (GO:0032372)2.31564625
189regulation of cellular amine metabolic process (GO:0033238)2.29778286
190exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.29483736
191base-excision repair (GO:0006284)2.29246341
192RNA-dependent DNA replication (GO:0006278)2.28962015

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human5.95096072
2E2F7_22180533_ChIP-Seq_HELA_Human4.81356261
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.50211383
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.75365262
5ZNF263_19887448_ChIP-Seq_K562_Human3.72496962
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.63451587
7MYC_18555785_ChIP-Seq_MESCs_Mouse3.52200127
8* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse3.43968188
9GATA1_19941826_ChIP-Seq_K562_Human3.29286590
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.28038571
11SCL_19346495_ChIP-Seq_HPC-7_Human3.23460316
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.21871548
13CREB1_15753290_ChIP-ChIP_HEK293T_Human3.18245085
14E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.11067459
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.95067753
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.93989758
17* GATA1_19941827_ChIP-Seq_MEL_Mouse2.90773366
18EZH2_22144423_ChIP-Seq_EOC_Human2.89931696
19NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.87489051
20HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.83534320
21EST1_17652178_ChIP-ChIP_JURKAT_Human2.78704205
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.68667714
23ETS1_20019798_ChIP-Seq_JURKAT_Human2.68413885
24PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.64480540
25* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.58482777
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.57341370
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.55932091
28NELFA_20434984_ChIP-Seq_ESCs_Mouse2.52147095
29ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.44418081
30MYC_18358816_ChIP-ChIP_MESCs_Mouse2.43095536
31* RXR_22158963_ChIP-Seq_LIVER_Mouse2.35500055
32* GATA2_19941826_ChIP-Seq_K562_Human2.32902646
33MYC_19030024_ChIP-ChIP_MESCs_Mouse2.32472704
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.27565218
35MYC_22102868_ChIP-Seq_BL_Human2.25463039
36E2F1_18555785_ChIP-Seq_MESCs_Mouse2.25398016
37FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.16639528
38AR_21909140_ChIP-Seq_LNCAP_Human2.15688913
39KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse2.13824195
40REST_21632747_ChIP-Seq_MESCs_Mouse2.13135520
41RARB_27405468_Chip-Seq_BRAIN_Mouse2.11663501
42TCF3_18467660_ChIP-ChIP_MESCs_Mouse2.07807825
43TCF7_22412390_ChIP-Seq_EML_Mouse2.07735742
44DCP1A_22483619_ChIP-Seq_HELA_Human2.07388854
45* MYCN_18555785_ChIP-Seq_MESCs_Mouse2.02632431
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.02290854
47GABP_19822575_ChIP-Seq_HepG2_Human2.02264205
48IGF1R_20145208_ChIP-Seq_DFB_Human2.01923196
49PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.00840273
50MYC_19079543_ChIP-ChIP_MESCs_Mouse1.96653056
51ELK1_19687146_ChIP-ChIP_HELA_Human1.95333246
52MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.94433721
53YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.92198738
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.91008625
55ZNF274_21170338_ChIP-Seq_K562_Hela1.87221698
56VDR_23849224_ChIP-Seq_CD4+_Human1.87164390
57* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.85360052
58GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.83624851
59GATA1_22383799_ChIP-Seq_G1ME_Mouse1.82247548
60KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.81357822
61TTF2_22483619_ChIP-Seq_HELA_Human1.77276248
62FOXP3_21729870_ChIP-Seq_TREG_Human1.75573598
63REST_18959480_ChIP-ChIP_MESCs_Mouse1.74873485
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.74782833
65XRN2_22483619_ChIP-Seq_HELA_Human1.71601932
66POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70014058
67PADI4_21655091_ChIP-ChIP_MCF-7_Human1.66300654
68EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.64626518
69MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.64210950
70E2F1_21310950_ChIP-Seq_MCF-7_Human1.62830664
71RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.62442882
72RBPJ_22232070_ChIP-Seq_NCS_Mouse1.55169652
73KDM2B_26808549_Chip-Seq_DND41_Human1.55141987
74EGR1_19374776_ChIP-ChIP_THP-1_Human1.55136712
75KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.53104274
76NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.52889218
77KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.52198896
78* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.51570422
79HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49264828
80DNAJC2_21179169_ChIP-ChIP_NT2_Human1.47066969
81CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.46818882
82GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.45340453
83MYC_18940864_ChIP-ChIP_HL60_Human1.40914974
84NR3C1_23031785_ChIP-Seq_PC12_Mouse1.39712661
85KDM2B_26808549_Chip-Seq_K562_Human1.39270171
86* ESR1_15608294_ChIP-ChIP_MCF-7_Human1.39097602
87ZFP281_18757296_ChIP-ChIP_E14_Mouse1.37329963
88* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.35951241
89GATA2_22383799_ChIP-Seq_G1ME_Mouse1.35460790
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.34694266
91VDR_21846776_ChIP-Seq_THP-1_Human1.33328609
92LXR_22158963_ChIP-Seq_LIVER_Mouse1.32615065
93POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32075229
94TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.31888962
95FOXM1_23109430_ChIP-Seq_U2OS_Human1.31609600
96KDM2B_26808549_Chip-Seq_SUP-B15_Human1.31443841
97YY1_21170310_ChIP-Seq_MESCs_Mouse1.31264259
98CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.31219438
99RUNX1_22412390_ChIP-Seq_EML_Mouse1.29761239
100ERG_21242973_ChIP-ChIP_JURKAT_Human1.29424294
101E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.28866009
102CREB1_26743006_Chip-Seq_LNCaP_Human1.27404038
103MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.24286370
104TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.23596364
105FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.23066662
106* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.19733015
107* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.19310978
108* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.18738990
109ELF1_17652178_ChIP-ChIP_JURKAT_Human1.17545139
110CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.17084503
111SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.16182854
112FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15896291
113SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.15242732
114REST_19997604_ChIP-ChIP_NEURONS_Mouse1.13064613
115SOX2_16153702_ChIP-ChIP_HESCs_Human1.11827954
116POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.11434833
117NANOG_18555785_ChIP-Seq_MESCs_Mouse1.11304320
118PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.11153431
119* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.10737950
120UTX_26944678_Chip-Seq_JUKART_Human1.09498929
121SOX2_27498859_Chip-Seq_STOMACH_Mouse1.07563805
122MYB_21317192_ChIP-Seq_ERMYB_Mouse1.07271855
123POU3F2_20337985_ChIP-ChIP_501MEL_Human1.05362554
124LXR_22292898_ChIP-Seq_THP-1_Human1.05269036
125KLF4_18555785_ChIP-Seq_MESCs_Mouse1.04274932
126BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03785668
127KDM5A_27292631_Chip-Seq_BREAST_Human1.03067990
128ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02543999
129E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.02506185
130* GATA6_25053715_ChIP-Seq_YYC3_Human1.02225697
131RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01465821
132CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.00738033
133IRF1_19129219_ChIP-ChIP_H3396_Human1.00694245
134KDM2B_26808549_Chip-Seq_JURKAT_Human1.00682508
135ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.99621740
136EWS_26573619_Chip-Seq_HEK293_Human0.98662446
137MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97989095
138CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97642743
139TAF15_26573619_Chip-Seq_HEK293_Human0.97613882
140CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.97313859
141HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.97119682
142NANOG_16153702_ChIP-ChIP_HESCs_Human0.96806050
143TBX5_21415370_ChIP-Seq_HL-1_Mouse0.96562237
144EGR1_23403033_ChIP-Seq_LIVER_Mouse0.96530469
145FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.95665574
146CTBP2_25329375_ChIP-Seq_LNCAP_Human0.95528672
147POU5F1_16153702_ChIP-ChIP_HESCs_Human0.94237786
148RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.93431755
149JARID2_20064375_ChIP-Seq_MESCs_Mouse0.93220136
150CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.93209558
151TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.92637814
152MAF_26560356_Chip-Seq_TH1_Human0.92603600
153SALL1_21062744_ChIP-ChIP_HESCs_Human0.92090535
154WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.91712947
155SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.89188900
156SOX17_20123909_ChIP-Seq_XEN_Mouse0.88996633
157TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.88952864
158SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88294342
159KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.88207738
160NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.86982113
161FUS_26573619_Chip-Seq_HEK293_Human0.86851078
162TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.86467146
163ETS1_22383799_ChIP-Seq_G1ME_Mouse0.85908694
164* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.84092339
165CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83360866
166RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.83061943
167NCOR1_26117541_ChIP-Seq_K562_Human0.82542560
168* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.82285506
169TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.82198102
170CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.81649076
171SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.80763389
172* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.80688032
173DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.80583506
174CDX2_20551321_ChIP-Seq_CACO-2_Human0.79787399
175HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.79635144
176PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.78283081
177* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.78149714
178IKZF1_21737484_ChIP-ChIP_HCT116_Human0.77255628
179ATF3_27146783_Chip-Seq_COLON_Human0.76747958
180SOX2_21211035_ChIP-Seq_LN229_Gbm0.76434096
181MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.75627582
182BRD4_27068464_Chip-Seq_AML-cells_Mouse0.75293039
183TP53_22573176_ChIP-Seq_HFKS_Human0.75230598
184FOXA2_19822575_ChIP-Seq_HepG2_Human0.74999914
185NANOG_21062744_ChIP-ChIP_HESCs_Human0.74937656
186GATA1_26923725_Chip-Seq_HPCs_Mouse0.73413784

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo4.24142359
2MP0004859_abnormal_synaptic_plasticity3.89422699
3MP0004147_increased_porphyrin_level3.86291648
4MP0010234_abnormal_vibrissa_follicle3.76266082
5MP0002139_abnormal_hepatobiliary_system3.52531060
6MP0005360_urolithiasis3.07984549
7MP0008877_abnormal_DNA_methylation3.00092703
8MP0008058_abnormal_DNA_repair2.98244408
9MP0001188_hyperpigmentation2.89716712
10MP0004957_abnormal_blastocyst_morpholog2.68510272
11MP0005085_abnormal_gallbladder_physiolo2.63325305
12MP0003693_abnormal_embryo_hatching2.62647449
13MP0002909_abnormal_adrenal_gland2.52409119
14MP0003635_abnormal_synaptic_transmissio2.52179426
15MP0003880_abnormal_central_pattern2.47472075
16MP0005083_abnormal_biliary_tract2.43789700
17MP0001968_abnormal_touch/_nociception2.41789689
18MP0010094_abnormal_chromosome_stability2.38643840
19MP0003868_abnormal_feces_composition2.34945322
20MP0004270_analgesia2.29099600
21MP0003111_abnormal_nucleus_morphology2.26816759
22MP0008932_abnormal_embryonic_tissue2.21484807
23MP0009697_abnormal_copulation2.20459759
24MP0002822_catalepsy2.14155915
25MP0005365_abnormal_bile_salt2.14013918
26MP0008875_abnormal_xenobiotic_pharmacok2.05968877
27MP0002733_abnormal_thermal_nociception2.03645140
28MP0004264_abnormal_extraembryonic_tissu2.02952312
29MP0002736_abnormal_nociception_after1.94798762
30MP0009745_abnormal_behavioral_response1.89398417
31MP0002063_abnormal_learning/memory/cond1.85930061
32MP0001666_abnormal_nutrient_absorption1.85213013
33MP0003786_premature_aging1.80865543
34MP0010329_abnormal_lipoprotein_level1.75579610
35MP0003866_abnormal_defecation1.71368693
36MP0003077_abnormal_cell_cycle1.66270657
37MP0006276_abnormal_autonomic_nervous1.60971456
38MP0008995_early_reproductive_senescence1.59838772
39MP0003718_maternal_effect1.57445908
40MP0003300_gastrointestinal_ulcer1.57309269
41MP0002734_abnormal_mechanical_nocicepti1.52870019
42MP0003890_abnormal_embryonic-extraembry1.51970091
43MP0002064_seizures1.50886353
44MP0002572_abnormal_emotion/affect_behav1.49788090
45MP0008872_abnormal_physiological_respon1.48108806
46MP0002735_abnormal_chemical_nociception1.47839359
47MP0003315_abnormal_perineum_morphology1.44308980
48MP0005423_abnormal_somatic_nervous1.43447144
49MP0003567_abnormal_fetal_cardiomyocyte1.43357488
50MP0000358_abnormal_cell_content/1.40123311
51MP0005464_abnormal_platelet_physiology1.39309507
52MP0003122_maternal_imprinting1.38643467
53MP0001970_abnormal_pain_threshold1.38428418
54MP0005636_abnormal_mineral_homeostasis1.36608026
55MP0004215_abnormal_myocardial_fiber1.35778023
56MP0003186_abnormal_redox_activity1.34586150
57MP0003787_abnormal_imprinting1.34195433
58MP0001730_embryonic_growth_arrest1.32340831
59MP0005499_abnormal_olfactory_system1.31605904
60MP0005394_taste/olfaction_phenotype1.31605904
61MP0001501_abnormal_sleep_pattern1.31239936
62MP0009672_abnormal_birth_weight1.30407509
63MP0008789_abnormal_olfactory_epithelium1.29426985
64MP0004811_abnormal_neuron_physiology1.28175725
65MP0004924_abnormal_behavior1.27721351
66MP0005386_behavior/neurological_phenoty1.27721351
67MP0005174_abnormal_tail_pigmentation1.26475620
68MP0003879_abnormal_hair_cell1.25770785
69MP0001440_abnormal_grooming_behavior1.24858318
70MP0005187_abnormal_penis_morphology1.22378321
71MP0000490_abnormal_crypts_of1.21856187
72MP0008007_abnormal_cellular_replicative1.20432352
73MP0002877_abnormal_melanocyte_morpholog1.20291676
74MP0001664_abnormal_digestion1.18586572
75MP0001663_abnormal_digestive_system1.18060210
76MP0001727_abnormal_embryo_implantation1.17289882
77MP0002557_abnormal_social/conspecific_i1.16787806
78MP0000639_abnormal_adrenal_gland1.05980006
79MP0004858_abnormal_nervous_system1.05601432
80MP0008961_abnormal_basal_metabolism1.04595866
81MP0003252_abnormal_bile_duct1.04526704
82MP0003329_amyloid_beta_deposits1.04219828
83MP0003221_abnormal_cardiomyocyte_apopto1.04208319
84MP0003283_abnormal_digestive_organ1.03741319
85MP0003172_abnormal_lysosome_physiology1.03616837
86MP0008770_decreased_survivor_rate1.02392432
87MP0002090_abnormal_vision1.01497119
88MP0008874_decreased_physiological_sensi1.01458074
89MP0000537_abnormal_urethra_morphology0.97644942
90MP0005535_abnormal_body_temperature0.97247774
91MP0008004_abnormal_stomach_pH0.97181504
92MP0003123_paternal_imprinting0.96329228
93MP0002102_abnormal_ear_morphology0.95347675
94MP0006292_abnormal_olfactory_placode0.94325464
95MP0000609_abnormal_liver_physiology0.94229362
96MP0002210_abnormal_sex_determination0.93938470
97MP0002272_abnormal_nervous_system0.93917088
98MP0001145_abnormal_male_reproductive0.93788912
99MP0000350_abnormal_cell_proliferation0.93524113
100MP0003011_delayed_dark_adaptation0.92084768
101MP0009780_abnormal_chondrocyte_physiolo0.92052070
102MP0000569_abnormal_digit_pigmentation0.91736094
103MP0001905_abnormal_dopamine_level0.90970202
104MP0002067_abnormal_sensory_capabilities0.90606100
105MP0005501_abnormal_skin_physiology0.90531562
106MP0001986_abnormal_taste_sensitivity0.90485961
107MP0000778_abnormal_nervous_system0.90460553
108MP0001697_abnormal_embryo_size0.90111985
109MP0002084_abnormal_developmental_patter0.89519578
110MP0002080_prenatal_lethality0.89257533
111MP0001765_abnormal_ion_homeostasis0.87803999
112MP0006035_abnormal_mitochondrial_morpho0.87572527
113MP0003806_abnormal_nucleotide_metabolis0.87531123
114MP0000653_abnormal_sex_gland0.87427332
115MP0005397_hematopoietic_system_phenotyp0.86392386
116MP0001545_abnormal_hematopoietic_system0.86392386
117MP0006036_abnormal_mitochondrial_physio0.85715567
118MP0002184_abnormal_innervation0.85615007
119MP0001293_anophthalmia0.85534787
120MP0008260_abnormal_autophagy0.85424544
121MP0001984_abnormal_olfaction0.85380850
122MP0009046_muscle_twitch0.85154716
123MP0002078_abnormal_glucose_homeostasis0.84911366
124MP0003941_abnormal_skin_development0.84657644
125MP0002693_abnormal_pancreas_physiology0.84486272
126MP0001929_abnormal_gametogenesis0.84188900
127MP0001672_abnormal_embryogenesis/_devel0.83374151
128MP0005380_embryogenesis_phenotype0.83374151
129MP0003191_abnormal_cellular_cholesterol0.83193626
130MP0000604_amyloidosis0.82627873
131MP0005381_digestive/alimentary_phenotyp0.82037964
132MP0001873_stomach_inflammation0.81845665
133MP0000477_abnormal_intestine_morphology0.81748151
134MP0010352_gastrointestinal_tract_polyps0.81435887
135MP0000465_gastrointestinal_hemorrhage0.80993698
136MP0004130_abnormal_muscle_cell0.80155242
137MP0005166_decreased_susceptibility_to0.79662491
138MP0009703_decreased_birth_body0.79474428
139MP0005584_abnormal_enzyme/coenzyme_acti0.79253638
140MP0005448_abnormal_energy_balance0.78141367
141MP0004808_abnormal_hematopoietic_stem0.78074696
142MP0003121_genomic_imprinting0.77457653
143MP0003633_abnormal_nervous_system0.76689442
144MP0002160_abnormal_reproductive_system0.76543983
145MP0009840_abnormal_foam_cell0.76495907
146MP0008057_abnormal_DNA_replication0.76168429
147MP0003119_abnormal_digestive_system0.75928606
148MP0001944_abnormal_pancreas_morphology0.74884727
149MP0000955_abnormal_spinal_cord0.74689344
150MP0001529_abnormal_vocalization0.74501577
151MP0003698_abnormal_male_reproductive0.74315651
152MP0001486_abnormal_startle_reflex0.73762682
153MP0005384_cellular_phenotype0.73686849
154MP0004885_abnormal_endolymph0.73028682
155MP0001348_abnormal_lacrimal_gland0.72777992
156MP0002118_abnormal_lipid_homeostasis0.72737556
157MP0004510_myositis0.71976299
158MP0002066_abnormal_motor_capabilities/c0.70220743
159MP0002638_abnormal_pupillary_reflex0.70196823
160MP0002229_neurodegeneration0.68954810

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the heme biosynthetic pathway (HP:0010472)5.79686378
2Poikilocytosis (HP:0004447)5.56617329
3Acanthocytosis (HP:0001927)5.22131076
4Visual hallucinations (HP:0002367)4.53436581
5Hypochromic microcytic anemia (HP:0004840)4.11481199
6Reticulocytosis (HP:0001923)3.65128719
7Increased serum pyruvate (HP:0003542)3.56015217
8Abnormality of glycolysis (HP:0004366)3.44481889
9Acute encephalopathy (HP:0006846)3.41573672
10Abnormal mitochondria in muscle tissue (HP:0008316)3.34886819
11Papilledema (HP:0001085)3.30685869
12Acute necrotizing encephalopathy (HP:0006965)3.26066373
13Cortical dysplasia (HP:0002539)3.23610901
14Abnormal gallbladder physiology (HP:0012438)3.20068641
15Cholecystitis (HP:0001082)3.20068641
16Hyperbilirubinemia (HP:0002904)3.08493712
17Global brain atrophy (HP:0002283)3.05183560
18Abnormality of the labia minora (HP:0012880)3.05034173
19Abnormality of the anterior horn cell (HP:0006802)3.04806195
20Degeneration of anterior horn cells (HP:0002398)3.04806195
21Cholelithiasis (HP:0001081)3.04034714
22Focal motor seizures (HP:0011153)2.97697245
23Hyperglycinemia (HP:0002154)2.97267461
24Atrophy/Degeneration involving motor neurons (HP:0007373)2.90768468
25Limb dystonia (HP:0002451)2.83684573
26Focal seizures (HP:0007359)2.81569968
27Cerebral hypomyelination (HP:0006808)2.80296673
28Abnormal gallbladder morphology (HP:0012437)2.72779107
29Cerebral edema (HP:0002181)2.69225550
30Mutism (HP:0002300)2.68772006
31Myokymia (HP:0002411)2.68075847
32Depression (HP:0000716)2.67492656
33Petechiae (HP:0000967)2.67151320
34Insomnia (HP:0100785)2.66233455
35Abnormality of aromatic amino acid family metabolism (HP:0004338)2.64496885
36Progressive macrocephaly (HP:0004481)2.57502801
37Decreased activity of mitochondrial respiratory chain (HP:0008972)2.57415482
38Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.57415482
39Shoulder girdle muscle weakness (HP:0003547)2.50685077
40Agitation (HP:0000713)2.48928737
41Hypobetalipoproteinemia (HP:0003563)2.46838684
42Increased CSF lactate (HP:0002490)2.45652566
43Prolonged bleeding time (HP:0003010)2.43200383
44Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.42232070
45Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.40610616
46Degeneration of the lateral corticospinal tracts (HP:0002314)2.39712380
47Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.39712380
48Impaired social interactions (HP:0000735)2.39605836
49Abnormal social behavior (HP:0012433)2.39605836
50Abnormal platelet function (HP:0011869)2.39292132
51Impaired platelet aggregation (HP:0003540)2.39292132
52Postnatal microcephaly (HP:0005484)2.38181518
53Generalized tonic-clonic seizures (HP:0002069)2.37971312
54Hyperglycinuria (HP:0003108)2.37881746
55Status epilepticus (HP:0002133)2.36679734
56Amyotrophic lateral sclerosis (HP:0007354)2.36493605
57Hyperalaninemia (HP:0003348)2.36255442
58Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.36255442
59Abnormality of alanine metabolism (HP:0010916)2.36255442
60Abnormality of the corticospinal tract (HP:0002492)2.34867286
61Urinary urgency (HP:0000012)2.34684441
62Mitochondrial inheritance (HP:0001427)2.34673415
63Gout (HP:0001997)2.34052996
64Abnormality of glycine metabolism (HP:0010895)2.33262819
65Abnormality of serine family amino acid metabolism (HP:0010894)2.33262819
66Abnormality of serum amino acid levels (HP:0003112)2.32983744
67Deep venous thrombosis (HP:0002625)2.32489660
68Poor suck (HP:0002033)2.32463920
69Intrahepatic cholestasis (HP:0001406)2.32254735
70Microvesicular hepatic steatosis (HP:0001414)2.28088224
71Supranuclear gaze palsy (HP:0000605)2.25826912
72Anxiety (HP:0000739)2.24345313
73Abnormality of monocarboxylic acid metabolism (HP:0010996)2.23640914
74Hepatocellular necrosis (HP:0001404)2.23287453
75Microcytic anemia (HP:0001935)2.22916748
76Hepatic necrosis (HP:0002605)2.21631095
77Generalized hyperpigmentation (HP:0007440)2.20061901
78Psychosis (HP:0000709)2.18756836
79Poor eye contact (HP:0000817)2.18256065
80Increased intramyocellular lipid droplets (HP:0012240)2.17108668
81Sensorimotor neuropathy (HP:0007141)2.16499323
82Lactic acidosis (HP:0003128)2.16368290
83Spontaneous abortion (HP:0005268)2.13397921
84Polycythemia (HP:0001901)2.11627573
85Postural instability (HP:0002172)2.11546755
86Abnormality of reticulocytes (HP:0004312)2.11452227
87Gonadal dysgenesis (HP:0000133)2.10566444
88Epileptic encephalopathy (HP:0200134)2.10545844
89Absence seizures (HP:0002121)2.09458283
90Increased serum lactate (HP:0002151)2.08359118
91Hypothermia (HP:0002045)2.08163728
92Cerebral inclusion bodies (HP:0100314)2.07677653
93Menorrhagia (HP:0000132)2.06933273
94Bradykinesia (HP:0002067)2.04333263
95Febrile seizures (HP:0002373)2.04128253
96Ankle clonus (HP:0011448)2.01660516
97Aplastic anemia (HP:0001915)2.00853966
98Abnormality of the gallbladder (HP:0005264)2.00840492
99Methylmalonic acidemia (HP:0002912)2.00230881
100Deep palmar crease (HP:0006191)2.00003535
101Atonic seizures (HP:0010819)1.99133997
102CNS hypomyelination (HP:0003429)1.99042998
103Secondary amenorrhea (HP:0000869)1.96882158
104Polyphagia (HP:0002591)1.96098285
105Apathy (HP:0000741)1.95956589
106Increased hepatocellular lipid droplets (HP:0006565)1.95099154
107Neoplasm of the peripheral nervous system (HP:0100007)1.95014312
108Truncal ataxia (HP:0002078)1.94451706
109Diminished motivation (HP:0000745)1.93656496
110Macroorchidism (HP:0000053)1.92841278
111Hand muscle atrophy (HP:0009130)1.91589999
112Epistaxis (HP:0000421)1.91205482
113Delusions (HP:0000746)1.91085861
114Exercise intolerance (HP:0003546)1.89952799
115Insidious onset (HP:0003587)1.87887261
116Termporal pattern (HP:0011008)1.87887261
117Hypochromic anemia (HP:0001931)1.87467580
118Lipid accumulation in hepatocytes (HP:0006561)1.87450918
119Abnormal lung lobation (HP:0002101)1.87340328
120Volvulus (HP:0002580)1.86193145
121Progressive inability to walk (HP:0002505)1.86057926
122Gonadotropin excess (HP:0000837)1.86041009
123Multiple enchondromatosis (HP:0005701)1.85474247
124Autoamputation (HP:0001218)1.85361113
125Hypoglycemic coma (HP:0001325)1.84305696
126Oligomenorrhea (HP:0000876)1.83284969
127Lethargy (HP:0001254)1.83249105
128Methylmalonic aciduria (HP:0012120)1.81449252
129Abnormality of the lower motor neuron (HP:0002366)1.81178007
130Gingival bleeding (HP:0000225)1.79476531
131Upper limb muscle weakness (HP:0003484)1.79167416
132Failure to thrive in infancy (HP:0001531)1.79059152
133Leukodystrophy (HP:0002415)1.78250651
134Reduced antithrombin III activity (HP:0001976)1.77864401
135Cortical visual impairment (HP:0100704)1.77560450
136Emotional lability (HP:0000712)1.75740694
137Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.74426086
138Abnormal protein N-linked glycosylation (HP:0012347)1.74426086
139Abnormal protein glycosylation (HP:0012346)1.74426086
140Abnormal glycosylation (HP:0012345)1.74426086
141Hypoplasia of the uterus (HP:0000013)1.74390530
142Cerebral palsy (HP:0100021)1.73764302
143Increased serum ferritin (HP:0003281)1.73135185
144Chromsome breakage (HP:0040012)1.72823280
145Thyroid carcinoma (HP:0002890)1.72492396
146Hepatocellular carcinoma (HP:0001402)1.71887375
147Dialeptic seizures (HP:0011146)1.71005261
148Thrombocytosis (HP:0001894)1.70848491
149Spastic diplegia (HP:0001264)1.70844482
150Increased muscle lipid content (HP:0009058)1.70528527
151Respiratory failure (HP:0002878)1.70265220
152Hypoglycemic seizures (HP:0002173)1.69929469
153Neoplasm of the small intestine (HP:0100833)1.69837046
154Colon cancer (HP:0003003)1.69526230
155Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.69384396
156Muscular hypotonia of the trunk (HP:0008936)1.68896712
157Impaired vibration sensation in the lower limbs (HP:0002166)1.68681401
158Enlarged penis (HP:0000040)1.68614685
159Micronodular cirrhosis (HP:0001413)1.68533210
160Ketosis (HP:0001946)1.68059482
161Generalized myoclonic seizures (HP:0002123)1.67624744
162Xanthomatosis (HP:0000991)1.67372290
163Hypsarrhythmia (HP:0002521)1.66642251
164Amblyopia (HP:0000646)1.66612381
165Biliary tract neoplasm (HP:0100574)1.66167619
166EEG with generalized epileptiform discharges (HP:0011198)1.65542070
167Type I transferrin isoform profile (HP:0003642)1.65531697
168Aplasia/hypoplasia of the uterus (HP:0008684)1.64886088
169Stenosis of the external auditory canal (HP:0000402)1.64834475
170Abnormality of the common coagulation pathway (HP:0010990)1.64208671
171Rimmed vacuoles (HP:0003805)1.63208375
172Epileptiform EEG discharges (HP:0011182)1.61986546
173Exercise-induced muscle cramps (HP:0003710)1.61260818
174Restlessness (HP:0000711)1.61214759
175Peripheral hypomyelination (HP:0007182)1.61082941
176Broad palm (HP:0001169)1.60861367
177Ileus (HP:0002595)1.60186543
178Choreoathetosis (HP:0001266)1.58899787
179Late onset (HP:0003584)1.58897885
180Protruding tongue (HP:0010808)1.58860574
181Impaired smooth pursuit (HP:0007772)1.58298834
182Neuroendocrine neoplasm (HP:0100634)1.58091804
183Delayed myelination (HP:0012448)1.57991106
184Ketoacidosis (HP:0001993)1.57597856
185Proximal placement of thumb (HP:0009623)1.56099010

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K93.92174964
2KSR23.29044741
3MAP3K123.19537102
4SCYL23.11245182
5MAP3K42.94106357
6BUB12.82728474
7TRIM282.80812672
8CDK192.79703579
9BCR2.78574277
10MAP2K42.75041285
11PKN22.66801292
12EEF2K2.52850634
13STK162.51644601
14NTRK32.51585737
15BCKDK2.34884826
16PBK2.32711285
17SRPK12.27603058
18GRK62.23664648
19MARK12.23314977
20MAP3K22.23154162
21MAP2K72.22479607
22TSSK62.16432830
23RET2.06332326
24TTK2.01290703
25MST1R2.00922210
26TAOK31.97754515
27RPS6KA41.96531920
28MINK11.92398793
29PLK31.89941776
30KSR11.82708502
31GRK51.81865632
32MKNK11.75687253
33MATK1.67967904
34NUAK11.59138360
35MAP4K21.58769368
36PLK41.58746623
37MAP3K61.55888321
38MST41.53254591
39ARAF1.46001327
40WEE11.41170799
41RIPK41.41144466
42PLK11.38639352
43TGFBR11.36996928
44VRK21.31998329
45ERBB31.31366861
46CAMKK11.29844217
47DAPK21.27701491
48TESK11.27455241
49FLT31.25976541
50MKNK21.24245599
51TNIK1.23486517
52DYRK21.23064795
53SIK21.21392033
54LIMK11.21214484
55CSNK1G21.21041620
56EIF2AK31.18965538
57NME11.17084318
58FRK1.16518119
59RAF11.15912964
60NTRK11.13828958
61MAP3K11.10492108
62WNK31.10359541
63SYK1.10315030
64DAPK11.08519269
65MAP2K61.08162014
66CCNB11.07356689
67CDK181.05542881
68DYRK31.05079715
69MAP3K131.04633948
70CSNK1A1L1.02443276
71BRAF0.99826055
72PDK20.98531033
73CDK150.95724867
74CASK0.95698711
75EPHA40.93947791
76VRK10.93841958
77CDK50.91069112
78MAP2K10.88522589
79LMTK20.84809185
80MAPK130.83766159
81NTRK20.83150267
82CAMKK20.82182795
83MAP3K100.82129958
84MAPKAPK50.81571396
85CSNK1G30.81179363
86ATR0.80344701
87SIK30.80267496
88FES0.79244331
89TRIB30.77242528
90KIT0.75535169
91HIPK20.72031131
92UHMK10.71977466
93RPS6KA50.69938728
94TAOK10.69756849
95JAK20.67898501
96MAPKAPK30.67044795
97PRKCG0.67013603
98PDK10.66628761
99ATM0.64354144
100CSNK1E0.64260105
101TESK20.64251844
102BRSK20.62399424
103PLK20.61669630
104PINK10.61583515
105RIPK10.61580136
106AURKA0.60637443
107AURKB0.60100703
108PNCK0.60079534
109MAP3K70.60077312
110MAP3K110.59679600
111OXSR10.58003947
112PIM20.57941919
113RPS6KA20.56137580
114ALK0.54959674
115LATS20.54185070
116PIK3CA0.52869692
117MAPK110.52776360
118CAMK2A0.52250592
119PTK60.50046019
120CDK60.48693479
121CSNK2A10.48180321
122CSNK2A20.47709507
123CAMK2B0.46972642
124PTK20.46899959
125ERN10.46154339
126CHEK10.46053282
127CAMK10.45553167
128PRKG20.45383996
129CAMK2G0.45293819
130DMPK0.44983502
131ABL20.44964226
132EIF2AK10.44873852
133PAK10.44594650
134PAK60.44433933
135CSNK1G10.44272426
136CLK10.43803292
137CSNK1A10.43603238
138TAOK20.42680062
139ERBB20.42654061
140FGR0.40275232
141NEK20.40150256
142CAMK2D0.40093703
143RPS6KB20.39176172
144ZAP700.37894096
145STK110.37658439
146MAP2K20.37426889
147ZAK0.37206740
148PRKAA10.36530416
149ACVR1B0.35910324
150MAP3K50.34702158
151CAMK1G0.34127863
152TGFBR20.32742624
153NME20.32613203
154BRSK10.31726236
155CDK140.31672940
156CDK11A0.29415834
157EGFR0.29209962
158PDPK10.29119823
159CDK90.29101039
160MAP2K30.28966014
161CDC70.28304988
162NEK10.28159228
163GRK70.27403614

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.09309098
2Synaptic vesicle cycle_Homo sapiens_hsa047212.81508222
3Mismatch repair_Homo sapiens_hsa034302.74517547
4Fatty acid elongation_Homo sapiens_hsa000622.62290135
5Nitrogen metabolism_Homo sapiens_hsa009102.60601134
6DNA replication_Homo sapiens_hsa030302.58433516
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.47563537
8Long-term potentiation_Homo sapiens_hsa047202.47221185
92-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.39469664
10Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.24959985
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.20794426
12Steroid biosynthesis_Homo sapiens_hsa001002.10335749
13Base excision repair_Homo sapiens_hsa034102.09812698
14Protein export_Homo sapiens_hsa030602.04104099
15Propanoate metabolism_Homo sapiens_hsa006401.99875061
16Nicotine addiction_Homo sapiens_hsa050331.96734201
17Parkinsons disease_Homo sapiens_hsa050121.88307913
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.88248372
19Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.87898826
20Non-homologous end-joining_Homo sapiens_hsa034501.87555108
21Oxidative phosphorylation_Homo sapiens_hsa001901.84048696
22Dopaminergic synapse_Homo sapiens_hsa047281.80433404
23Thyroid cancer_Homo sapiens_hsa052161.75596165
24Sulfur metabolism_Homo sapiens_hsa009201.74490367
25Biosynthesis of amino acids_Homo sapiens_hsa012301.72871694
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.71365354
27Amphetamine addiction_Homo sapiens_hsa050311.69721987
28Carbon metabolism_Homo sapiens_hsa012001.67914631
29Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.63838256
30Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.62162245
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.59346968
32Spliceosome_Homo sapiens_hsa030401.59239289
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.59017638
34Bile secretion_Homo sapiens_hsa049761.57698883
35Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.55296646
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.54846958
37Arginine biosynthesis_Homo sapiens_hsa002201.53754106
38Salivary secretion_Homo sapiens_hsa049701.51704894
39Nucleotide excision repair_Homo sapiens_hsa034201.51426385
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.48541091
41RNA transport_Homo sapiens_hsa030131.47936732
42GABAergic synapse_Homo sapiens_hsa047271.47525574
43Insulin secretion_Homo sapiens_hsa049111.47243473
44Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.44462473
45Maturity onset diabetes of the young_Homo sapiens_hsa049501.43236368
46Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.43064571
47Collecting duct acid secretion_Homo sapiens_hsa049661.42837715
48Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.40740417
49Non-small cell lung cancer_Homo sapiens_hsa052231.37912990
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.35823812
51Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.35657045
52Homologous recombination_Homo sapiens_hsa034401.35360454
53RNA polymerase_Homo sapiens_hsa030201.35123893
54Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.32620786
55Alcoholism_Homo sapiens_hsa050341.29187088
56Olfactory transduction_Homo sapiens_hsa047401.27566619
57Glioma_Homo sapiens_hsa052141.25320338
58Circadian entrainment_Homo sapiens_hsa047131.23953968
59GnRH signaling pathway_Homo sapiens_hsa049121.23542768
60Long-term depression_Homo sapiens_hsa047301.22712398
61Gastric acid secretion_Homo sapiens_hsa049711.22685047
62Fatty acid metabolism_Homo sapiens_hsa012121.22284406
63Cocaine addiction_Homo sapiens_hsa050301.21121191
64Folate biosynthesis_Homo sapiens_hsa007901.19342050
65Neurotrophin signaling pathway_Homo sapiens_hsa047221.19006076
66Huntingtons disease_Homo sapiens_hsa050161.18958433
67Aldosterone synthesis and secretion_Homo sapiens_hsa049251.17907896
68Pyrimidine metabolism_Homo sapiens_hsa002401.17704021
69Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.16526005
70Cholinergic synapse_Homo sapiens_hsa047251.14803723
71Basal transcription factors_Homo sapiens_hsa030221.13088219
72One carbon pool by folate_Homo sapiens_hsa006701.13071966
73Primary bile acid biosynthesis_Homo sapiens_hsa001201.12894130
74Carbohydrate digestion and absorption_Homo sapiens_hsa049731.12128061
75Arginine and proline metabolism_Homo sapiens_hsa003301.11502110
76RNA degradation_Homo sapiens_hsa030181.10676454
77Cell cycle_Homo sapiens_hsa041101.09282274
78Glutamatergic synapse_Homo sapiens_hsa047241.09219565
79Renin secretion_Homo sapiens_hsa049241.09135180
80Estrogen signaling pathway_Homo sapiens_hsa049151.07233772
81VEGF signaling pathway_Homo sapiens_hsa043701.06960982
82Gap junction_Homo sapiens_hsa045401.06432007
83Endometrial cancer_Homo sapiens_hsa052131.03612621
84Type II diabetes mellitus_Homo sapiens_hsa049301.03065609
85Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.02671013
86Alzheimers disease_Homo sapiens_hsa050101.01519455
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.00124892
88Glutathione metabolism_Homo sapiens_hsa004800.99316919
89Morphine addiction_Homo sapiens_hsa050320.98458113
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.97340744
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.96894334
92Dorso-ventral axis formation_Homo sapiens_hsa043200.95739283
93Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.94856443
94Thyroid hormone synthesis_Homo sapiens_hsa049180.94685578
95Vitamin B6 metabolism_Homo sapiens_hsa007500.94066105
96Peroxisome_Homo sapiens_hsa041460.94034646
97Fanconi anemia pathway_Homo sapiens_hsa034600.93848819
98Serotonergic synapse_Homo sapiens_hsa047260.93468812
99Purine metabolism_Homo sapiens_hsa002300.93084030
100Taste transduction_Homo sapiens_hsa047420.92888770
101Galactose metabolism_Homo sapiens_hsa000520.91722082
102Insulin signaling pathway_Homo sapiens_hsa049100.91234293
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.89003406
104mRNA surveillance pathway_Homo sapiens_hsa030150.88731640
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88099842
106Vibrio cholerae infection_Homo sapiens_hsa051100.88078398
107Glucagon signaling pathway_Homo sapiens_hsa049220.87301676
108Prolactin signaling pathway_Homo sapiens_hsa049170.86481141
109Fat digestion and absorption_Homo sapiens_hsa049750.84826141
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.84153657
111Oxytocin signaling pathway_Homo sapiens_hsa049210.82852904
112Caffeine metabolism_Homo sapiens_hsa002320.81562963
113mTOR signaling pathway_Homo sapiens_hsa041500.80747476
114Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.80483879
115Bladder cancer_Homo sapiens_hsa052190.79584783
116Butanoate metabolism_Homo sapiens_hsa006500.78403927
117* Metabolic pathways_Homo sapiens_hsa011000.78053297
118Oocyte meiosis_Homo sapiens_hsa041140.77669647
119Insulin resistance_Homo sapiens_hsa049310.75315484
120Phosphatidylinositol signaling system_Homo sapiens_hsa040700.74473781
121Platelet activation_Homo sapiens_hsa046110.73165416
122Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72647492
123Pentose phosphate pathway_Homo sapiens_hsa000300.72541961
124Tryptophan metabolism_Homo sapiens_hsa003800.70952007
125Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.69889391
126Pyruvate metabolism_Homo sapiens_hsa006200.69760974
127Sulfur relay system_Homo sapiens_hsa041220.69579331
128Starch and sucrose metabolism_Homo sapiens_hsa005000.68998611
129Melanogenesis_Homo sapiens_hsa049160.66493839
130Colorectal cancer_Homo sapiens_hsa052100.65973560
131ErbB signaling pathway_Homo sapiens_hsa040120.65871688
132Pancreatic secretion_Homo sapiens_hsa049720.65635847
133N-Glycan biosynthesis_Homo sapiens_hsa005100.62247907
134Pancreatic cancer_Homo sapiens_hsa052120.62164673
135Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59480977
136Chronic myeloid leukemia_Homo sapiens_hsa052200.59294201
137Fatty acid degradation_Homo sapiens_hsa000710.58041330
138Selenocompound metabolism_Homo sapiens_hsa004500.56713809
139Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.56096512
140Cardiac muscle contraction_Homo sapiens_hsa042600.55738173
141Regulation of autophagy_Homo sapiens_hsa041400.55706362
142Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55293991
143Calcium signaling pathway_Homo sapiens_hsa040200.53957050
144ABC transporters_Homo sapiens_hsa020100.53817276
145beta-Alanine metabolism_Homo sapiens_hsa004100.52361098
146Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.52145661
147Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51598882
148Phenylalanine metabolism_Homo sapiens_hsa003600.50619090
149Cysteine and methionine metabolism_Homo sapiens_hsa002700.50574617
150Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49637086
151* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.48058909
152Steroid hormone biosynthesis_Homo sapiens_hsa001400.47703185
153Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.46611093
154Fructose and mannose metabolism_Homo sapiens_hsa000510.46479168
155Drug metabolism - other enzymes_Homo sapiens_hsa009830.45839918
156Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45576830
157Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.43677646
158Phototransduction_Homo sapiens_hsa047440.43627051
159Acute myeloid leukemia_Homo sapiens_hsa052210.43000325
160Systemic lupus erythematosus_Homo sapiens_hsa053220.42949915
161Cyanoamino acid metabolism_Homo sapiens_hsa004600.37163600
162Tyrosine metabolism_Homo sapiens_hsa003500.36626877
163Vitamin digestion and absorption_Homo sapiens_hsa049770.36550936
164Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.35726776

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