CNDP1

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 a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)8.84758816
2axon ensheathment in central nervous system (GO:0032291)8.84758816
3synaptic vesicle maturation (GO:0016188)5.98892393
4membrane depolarization during cardiac muscle cell action potential (GO:0086012)5.86803552
5synaptic vesicle docking involved in exocytosis (GO:0016081)5.50370809
6superoxide anion generation (GO:0042554)5.38982837
7glutamate secretion (GO:0014047)5.24882969
8negative regulation of synaptic transmission, GABAergic (GO:0032229)5.07125894
9energy homeostasis (GO:0097009)4.90904417
10synaptic vesicle exocytosis (GO:0016079)4.86193477
11regulation of short-term neuronal synaptic plasticity (GO:0048172)4.72354602
12gamma-aminobutyric acid transport (GO:0015812)4.53385490
13cellular potassium ion homeostasis (GO:0030007)4.51420620
14positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.45388280
15neuronal action potential propagation (GO:0019227)4.43200795
16aminoglycoside antibiotic metabolic process (GO:0030647)4.42807710
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.40338042
18L-amino acid import (GO:0043092)4.36084797
19neurotransmitter secretion (GO:0007269)4.32727115
20presynaptic membrane organization (GO:0097090)4.18859648
21regulation of synaptic vesicle exocytosis (GO:2000300)4.16436500
22neuronal ion channel clustering (GO:0045161)4.10298723
23postsynaptic membrane organization (GO:0001941)4.07478383
24transmission of nerve impulse (GO:0019226)3.99593177
25regulation of synaptic vesicle transport (GO:1902803)3.91840767
26potassium ion import (GO:0010107)3.90809719
27ionotropic glutamate receptor signaling pathway (GO:0035235)3.90633680
28presynaptic membrane assembly (GO:0097105)3.88683402
29vocalization behavior (GO:0071625)3.84928101
30neuron cell-cell adhesion (GO:0007158)3.84729183
31regulation of neuronal synaptic plasticity (GO:0048168)3.78498657
32synaptic transmission, glutamatergic (GO:0035249)3.77862152
33neurotransmitter uptake (GO:0001504)3.77010416
34regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.75986122
35gamma-aminobutyric acid signaling pathway (GO:0007214)3.73210668
36neurotransmitter-gated ion channel clustering (GO:0072578)3.70946451
37potassium ion homeostasis (GO:0055075)3.70432496
38myelin maintenance (GO:0043217)3.65124117
39neurotransmitter transport (GO:0006836)3.65072458
40oligosaccharide catabolic process (GO:0009313)3.64158185
41locomotory exploration behavior (GO:0035641)3.59250850
42negative regulation of mast cell activation (GO:0033004)3.57427096
43membrane depolarization during action potential (GO:0086010)3.57302678
44regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.56134634
45sodium ion export (GO:0071436)3.55216545
46amino acid import (GO:0043090)3.54739906
47cytochrome complex assembly (GO:0017004)3.51201119
48regulation of neurotransmitter levels (GO:0001505)3.51057819
49long-chain fatty acid biosynthetic process (GO:0042759)3.50630778
50neuron-neuron synaptic transmission (GO:0007270)3.49475608
51positive regulation of cellular amide metabolic process (GO:0034250)3.45572666
52regulation of activation of Janus kinase activity (GO:0010533)3.45210301
53glutamate receptor signaling pathway (GO:0007215)3.43804507
54response to peptidoglycan (GO:0032494)3.42514443
55regulation of female receptivity (GO:0045924)3.41880343
56kinetochore assembly (GO:0051382)3.40381491
57positive regulation of synapse maturation (GO:0090129)3.37745535
58protein localization to synapse (GO:0035418)3.36071941
59polyol transport (GO:0015791)3.35046134
60polyketide metabolic process (GO:0030638)3.34832663
61doxorubicin metabolic process (GO:0044598)3.34832663
62daunorubicin metabolic process (GO:0044597)3.34832663
63detection of other organism (GO:0098543)3.34727097
64cerebellar Purkinje cell differentiation (GO:0021702)3.29468739
65C4-dicarboxylate transport (GO:0015740)3.29171035
66regulation of excitatory postsynaptic membrane potential (GO:0060079)3.28847685
67glycosphingolipid biosynthetic process (GO:0006688)3.25191804
68primary amino compound metabolic process (GO:1901160)3.24678191
69respiratory chain complex IV assembly (GO:0008535)3.21176105
70serotonin metabolic process (GO:0042428)3.20453326
71dendritic cell chemotaxis (GO:0002407)3.19992464
72acidic amino acid transport (GO:0015800)3.19403275
73regulation of neurotransmitter transport (GO:0051588)3.18867273
74regulation of neurotransmitter secretion (GO:0046928)3.18146822
75regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.17472899
76myelination (GO:0042552)3.17430013
77regulation of long-term neuronal synaptic plasticity (GO:0048169)3.15085317
78regulation of neurotransmitter uptake (GO:0051580)3.14634532
79centriole assembly (GO:0098534)3.14152463
80detection of bacterium (GO:0016045)3.13463719
81ensheathment of neurons (GO:0007272)3.13252203
82axon ensheathment (GO:0008366)3.13252203
83proline transport (GO:0015824)3.11624194
84regulation of postsynaptic membrane potential (GO:0060078)3.11468261
85glycerophospholipid catabolic process (GO:0046475)3.11379680
86sulfate transport (GO:0008272)3.11336484
87positive regulation of membrane potential (GO:0045838)3.09189783
88regulation of dendritic cell antigen processing and presentation (GO:0002604)3.08746508
89regulation of glutamate receptor signaling pathway (GO:1900449)3.08700037
90auditory behavior (GO:0031223)3.08502525
91dendritic spine morphogenesis (GO:0060997)3.07926048
92exploration behavior (GO:0035640)3.05601196
93regulation of voltage-gated calcium channel activity (GO:1901385)3.04954103
94superoxide metabolic process (GO:0006801)3.04657429
95neuromuscular process controlling posture (GO:0050884)3.04368924
96membrane depolarization (GO:0051899)3.04181152
97behavioral response to nicotine (GO:0035095)3.01900166
98positive regulation of interleukin-1 beta secretion (GO:0050718)3.01568681
99protein polyglutamylation (GO:0018095)3.00995667
100cyclic nucleotide catabolic process (GO:0009214)3.00776240
101cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.00453461
102long-term synaptic potentiation (GO:0060291)2.98909188
103regulation of dendritic spine development (GO:0060998)2.97593535
104neuromuscular synaptic transmission (GO:0007274)2.95717654
105kinetochore organization (GO:0051383)2.94059444
106regulation of synapse maturation (GO:0090128)2.93750029
107synaptic transmission (GO:0007268)2.93450059
108positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.93374841
109regulation of RIG-I signaling pathway (GO:0039535)2.93079654
110lipoxygenase pathway (GO:0019372)2.92157984
111substantia nigra development (GO:0021762)2.92015184
112regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.91964928
113adult walking behavior (GO:0007628)2.89693170
114positive regulation of antigen processing and presentation (GO:0002579)2.89626615
115positive regulation of dendritic spine development (GO:0060999)2.89352808
116cerebellar granule cell differentiation (GO:0021707)2.88834144
117regulation of synaptic plasticity (GO:0048167)2.87227920
118L-glutamate transport (GO:0015813)2.86566810
119phosphorelay signal transduction system (GO:0000160)2.86369668
120regulation of dendritic spine morphogenesis (GO:0061001)2.85790160
121regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.83243886
122female mating behavior (GO:0060180)2.82191104
123regulation of synapse structural plasticity (GO:0051823)2.81669339
124dendritic cell migration (GO:0036336)2.81241297
125mesenchymal cell differentiation involved in kidney development (GO:0072161)2.80569983
126mesenchymal cell differentiation involved in renal system development (GO:2001012)2.80569983
127regulation of antigen processing and presentation (GO:0002577)2.77844366
128startle response (GO:0001964)2.77175888
129negative regulation of myeloid cell apoptotic process (GO:0033033)2.76702891
130regulation of calcium ion-dependent exocytosis (GO:0017158)2.76108822
131regulation of synaptic transmission, GABAergic (GO:0032228)2.74905102
132regulation of synaptic transmission (GO:0050804)2.74662514
133positive regulation of interleukin-1 secretion (GO:0050716)2.74640818
134eosinophil chemotaxis (GO:0048245)2.74522030
135G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.74474823
136retinal cone cell development (GO:0046549)2.73042285
137DNA integration (GO:0015074)2.72786705
138trivalent inorganic anion homeostasis (GO:0072506)2.72656938
139phosphate ion homeostasis (GO:0055062)2.72656938
140regulation of interleukin-8 secretion (GO:2000482)2.71305189
141regulation of cellular extravasation (GO:0002691)2.70525231
142female gonad development (GO:0008585)2.70112347
143regulation of interleukin-1 beta secretion (GO:0050706)2.69181658
144regulation of hexokinase activity (GO:1903299)2.68799960
145regulation of glucokinase activity (GO:0033131)2.68799960
146toxin transport (GO:1901998)2.66169746
147regulation of nuclear cell cycle DNA replication (GO:0033262)2.65255169
148neutrophil activation involved in immune response (GO:0002283)2.64372891
149meiotic chromosome segregation (GO:0045132)2.63598889
150protein K6-linked ubiquitination (GO:0085020)2.63288575
151GPI anchor biosynthetic process (GO:0006506)2.61841683
152cell differentiation involved in metanephros development (GO:0072202)2.61829828
153preassembly of GPI anchor in ER membrane (GO:0016254)2.61608109
154positive regulation of T cell migration (GO:2000406)2.60885544
155interferon-gamma production (GO:0032609)2.59798485
156neutrophil activation (GO:0042119)2.56970118
157natural killer cell activation involved in immune response (GO:0002323)2.56722160
158detection of molecule of bacterial origin (GO:0032490)2.55654056
159nucleotide transmembrane transport (GO:1901679)2.50852755
160cellular response to interferon-beta (GO:0035458)2.50517793
161positive regulation of lymphocyte migration (GO:2000403)2.48395479
162cellular response to gamma radiation (GO:0071480)2.48305334
163cellular response to exogenous dsRNA (GO:0071360)2.46764671
164negative regulation of homotypic cell-cell adhesion (GO:0034111)2.46683322
165production of molecular mediator involved in inflammatory response (GO:0002532)2.45438007
166hydrogen peroxide biosynthetic process (GO:0050665)2.44687255
167cellular anion homeostasis (GO:0030002)2.44061600
168positive regulation by symbiont of host defense response (GO:0052509)2.42552014
169modulation by symbiont of host defense response (GO:0052031)2.42552014
170modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.42552014
171modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.42552014
172positive regulation by organism of defense response of other organism involved in symbiotic interact2.42552014
173modulation by symbiont of host immune response (GO:0052553)2.42552014
174eosinophil migration (GO:0072677)2.42497401
175response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.41900993
176response to host immune response (GO:0052572)2.41900993
177replicative senescence (GO:0090399)2.41544345
178adenosine metabolic process (GO:0046085)2.41377986
179negative regulation of DNA-dependent DNA replication (GO:2000104)2.41221653
180histamine transport (GO:0051608)2.38947419
181glycoside metabolic process (GO:0016137)2.38386617
182positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.38031606
183reactive oxygen species biosynthetic process (GO:1903409)2.37798680
184sulfate transmembrane transport (GO:1902358)2.37547102
185positive regulation of heat generation (GO:0031652)2.37537832
186NAD biosynthetic process (GO:0009435)2.36620341
187response to muramyl dipeptide (GO:0032495)2.36468858
188negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.36129502
189positive regulation of T cell mediated cytotoxicity (GO:0001916)2.35864906
190negative regulation of keratinocyte proliferation (GO:0010839)2.34958052
191nucleoside diphosphate catabolic process (GO:0009134)2.34903296
192regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.34581367
193positive regulation of interleukin-1 beta production (GO:0032731)2.34524666
194positive regulation of interleukin-17 production (GO:0032740)2.34236188
195negative regulation of myoblast differentiation (GO:0045662)2.34147016
196GPI anchor metabolic process (GO:0006505)2.32186903
197mannosylation (GO:0097502)2.31655179
198positive regulation of defense response to virus by host (GO:0002230)2.31652354
199one-carbon compound transport (GO:0019755)2.30977679
200detection of external biotic stimulus (GO:0098581)2.29878192

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.11499602
2TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.30008131
3GBX2_23144817_ChIP-Seq_PC3_Human3.15608921
4PCGF2_27294783_Chip-Seq_ESCs_Mouse3.10041495
5NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.06832690
6IRF8_21731497_ChIP-ChIP_J774_Mouse2.87345071
7FLI1_27457419_Chip-Seq_LIVER_Mouse2.86006127
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.82871971
9REST_21632747_ChIP-Seq_MESCs_Mouse2.82079848
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.61378952
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.61140548
12DROSHA_22980978_ChIP-Seq_HELA_Human2.60463427
13SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.56504713
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.55125234
15SUZ12_27294783_Chip-Seq_NPCs_Mouse2.54466336
16SMAD_19615063_ChIP-ChIP_OVARY_Human2.53971960
17SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.42753582
18NFE2_27457419_Chip-Seq_LIVER_Mouse2.38063503
19IGF1R_20145208_ChIP-Seq_DFB_Human2.36623533
20JARID2_20064375_ChIP-Seq_MESCs_Mouse2.36171036
21PCGF2_27294783_Chip-Seq_NPCs_Mouse2.25852478
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.20178580
23EZH2_27294783_Chip-Seq_NPCs_Mouse2.19235924
24SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.17221753
25JARID2_20075857_ChIP-Seq_MESCs_Mouse2.13181816
26REST_18959480_ChIP-ChIP_MESCs_Mouse2.09230550
27MTF2_20144788_ChIP-Seq_MESCs_Mouse2.06906320
28POU3F2_20337985_ChIP-ChIP_501MEL_Human2.04261170
29IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.03786170
30EZH2_27294783_Chip-Seq_ESCs_Mouse2.01964767
31STAT3_18555785_Chip-Seq_ESCs_Mouse1.98014679
32SUZ12_18555785_Chip-Seq_ESCs_Mouse1.94635302
33EZH2_27304074_Chip-Seq_ESCs_Mouse1.94292791
34EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.92227607
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.91896279
36RNF2_27304074_Chip-Seq_ESCs_Mouse1.91861354
37SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.87480121
38NMYC_18555785_Chip-Seq_ESCs_Mouse1.85966919
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85102403
40P53_22387025_ChIP-Seq_ESCs_Mouse1.84897360
41E2F1_18555785_Chip-Seq_ESCs_Mouse1.84050066
42IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.83406481
43SUZ12_27294783_Chip-Seq_ESCs_Mouse1.82784178
44SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.82495945
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.82274575
46NANOG_18555785_Chip-Seq_ESCs_Mouse1.81748443
47GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81213417
48EZH2_18974828_ChIP-Seq_MESCs_Mouse1.79219543
49RNF2_18974828_ChIP-Seq_MESCs_Mouse1.79219543
50EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.78853298
51RARB_27405468_Chip-Seq_BRAIN_Mouse1.78038240
52TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.75644275
53VDR_22108803_ChIP-Seq_LS180_Human1.75555435
54CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.72201656
55P300_18555785_Chip-Seq_ESCs_Mouse1.72137892
56RUNX1_27457419_Chip-Seq_LIVER_Mouse1.71652924
57CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.68081379
58OCT4_18555785_Chip-Seq_ESCs_Mouse1.67950855
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.66612614
60ZFX_18555785_Chip-Seq_ESCs_Mouse1.65833340
61SOX2_18555785_Chip-Seq_ESCs_Mouse1.65022670
62CMYC_18555785_Chip-Seq_ESCs_Mouse1.64203932
63KAP1_22055183_ChIP-Seq_ESCs_Mouse1.64124377
64HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.63141088
65MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.62573174
66AR_21572438_ChIP-Seq_LNCaP_Human1.62066942
67ESRRB_18555785_Chip-Seq_ESCs_Mouse1.58954783
68CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58127650
69PU1_27457419_Chip-Seq_LIVER_Mouse1.57651983
70P300_19829295_ChIP-Seq_ESCs_Human1.57220072
71KLF4_18555785_Chip-Seq_ESCs_Mouse1.57117017
72* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52675614
73SMAD1_18555785_Chip-Seq_ESCs_Mouse1.51277717
74Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.51167092
75CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50858367
76TAL1_26923725_Chip-Seq_HPCs_Mouse1.50543530
77* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50084801
78ELF1_17652178_ChIP-ChIP_JURKAT_Human1.49467970
79PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.49060766
80CTCF_18555785_Chip-Seq_ESCs_Mouse1.48924365
81KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.45591874
82CRX_20693478_ChIP-Seq_RETINA_Mouse1.45071629
83CBX2_27304074_Chip-Seq_ESCs_Mouse1.43875899
84RNF2_27304074_Chip-Seq_NSC_Mouse1.41019923
85OCT4_21477851_ChIP-Seq_ESCs_Mouse1.40890456
86IRF1_19129219_ChIP-ChIP_H3396_Human1.39270933
87FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.37855220
88SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36674221
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.36269463
90TP63_19390658_ChIP-ChIP_HaCaT_Human1.35179481
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.34907328
92RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.34217235
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.33273717
94RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.33184300
95SMAD3_21741376_ChIP-Seq_EPCs_Human1.32113385
96CDX2_19796622_ChIP-Seq_MESCs_Mouse1.29898672
97MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29528307
98TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28271023
99* IRF8_27001747_Chip-Seq_BMDM_Mouse1.28170623
100SRF_21415370_ChIP-Seq_HL-1_Mouse1.28014628
101CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.27132599
102LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.27064795
103IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25506496
104FUS_26573619_Chip-Seq_HEK293_Human1.24805406
105OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24292598
106ER_23166858_ChIP-Seq_MCF-7_Human1.24020817
107EWS_26573619_Chip-Seq_HEK293_Human1.22384841
108ZNF274_21170338_ChIP-Seq_K562_Hela1.21871779
109SOX2_21211035_ChIP-Seq_LN229_Gbm1.20898362
110PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.18589255
111PIAS1_25552417_ChIP-Seq_VCAP_Human1.18226450
112TAF15_26573619_Chip-Seq_HEK293_Human1.16486819
113CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.16373598
114SMAD4_21799915_ChIP-Seq_A2780_Human1.14382925
115EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.14265815
116RING1B_27294783_Chip-Seq_ESCs_Mouse1.12290728
117AR_19668381_ChIP-Seq_PC3_Human1.12141259
118FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10414571
119SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.10322478
120POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08897304
121VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07743664
122AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07471454
123BCAT_22108803_ChIP-Seq_LS180_Human1.07336719
124STAT1_17558387_ChIP-Seq_HELA_Human1.06821982
125KDM2B_26808549_Chip-Seq_REH_Human1.05477933
126BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05451180
127SMAD3_21741376_ChIP-Seq_ESCs_Human1.05303351
128PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.05076974
129TP53_18474530_ChIP-ChIP_U2OS_Human1.05025227
130SMAD4_21741376_ChIP-Seq_EPCs_Human1.04844667
131TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04750881
132POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04750881
133EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.04388667
134* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04264813
135PRDM14_20953172_ChIP-Seq_ESCs_Human1.04250253
136STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.03187366
137SOX2_19829295_ChIP-Seq_ESCs_Human1.01649179
138NANOG_19829295_ChIP-Seq_ESCs_Human1.01649179
139STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.01385902
140STAT4_19710469_ChIP-ChIP_TH1__Mouse1.01159589
141NR3C1_21868756_ChIP-Seq_MCF10A_Human1.00191228
142CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.00188310
143RUNX2_22187159_ChIP-Seq_PCA_Human0.98840752
144WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98766809
145TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98029246
146TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97827050
147RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.97732915
148RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96875322
149SMAD4_21741376_ChIP-Seq_HESCs_Human0.96795693
150MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96236285
151FLI1_21867929_ChIP-Seq_TH2_Mouse0.94850714
152KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93038703
153CBP_20019798_ChIP-Seq_JUKART_Human0.92530203
154IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.92530203
155UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92077446
156TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91853246
157MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91809590
158CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.91416006
159FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.90417780
160EED_16625203_ChIP-ChIP_MESCs_Mouse0.89642760
161STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.88947105
162STAT3_23295773_ChIP-Seq_U87_Human0.88564853
163EGR1_23403033_ChIP-Seq_LIVER_Mouse0.88262737
164AR_25329375_ChIP-Seq_VCAP_Human0.87787434
165PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.87161560
166* TCF4_23295773_ChIP-Seq_U87_Human0.85679554

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.59555231
2MP0003880_abnormal_central_pattern4.13249745
3MP0004270_analgesia3.57678927
4MP0002064_seizures3.56628385
5MP0000566_synostosis3.41198730
6MP0005423_abnormal_somatic_nervous3.36623560
7MP0003635_abnormal_synaptic_transmissio3.34875857
8MP0002272_abnormal_nervous_system3.31187143
9MP0009745_abnormal_behavioral_response3.22019424
10MP0001486_abnormal_startle_reflex3.19935365
11MP0006292_abnormal_olfactory_placode3.11229746
12MP0001188_hyperpigmentation3.03272018
13MP0000569_abnormal_digit_pigmentation2.97268413
14MP0001968_abnormal_touch/_nociception2.95727401
15MP0009046_muscle_twitch2.92846082
16MP0001835_abnormal_antigen_presentation2.87590408
17MP0002063_abnormal_learning/memory/cond2.74451086
18MP0004885_abnormal_endolymph2.64737480
19MP0000920_abnormal_myelination2.62293310
20MP0002734_abnormal_mechanical_nocicepti2.55367847
21MP0000015_abnormal_ear_pigmentation2.52888320
22MP0009697_abnormal_copulation2.39889181
23MP0002148_abnormal_hypersensitivity_rea2.38247932
24MP0003724_increased_susceptibility_to2.37111431
25MP0002572_abnormal_emotion/affect_behav2.35845306
26MP0003690_abnormal_glial_cell2.33051290
27MP0001986_abnormal_taste_sensitivity2.30304475
28MP0005171_absent_coat_pigmentation2.30037135
29MP0005174_abnormal_tail_pigmentation2.23621977
30MP0001501_abnormal_sleep_pattern2.20571448
31MP0002277_abnormal_respiratory_mucosa2.20311035
32MP0009785_altered_susceptibility_to2.18943829
33MP0002735_abnormal_chemical_nociception2.14683545
34MP0002736_abnormal_nociception_after2.13924541
35MP0002102_abnormal_ear_morphology2.10815687
36MP0008569_lethality_at_weaning2.09426336
37MP0002876_abnormal_thyroid_physiology2.07131281
38MP0002132_abnormal_respiratory_system2.04598982
39MP0010386_abnormal_urinary_bladder2.00061191
40MP0003787_abnormal_imprinting1.98007111
41MP0001970_abnormal_pain_threshold1.97591096
42MP0008260_abnormal_autophagy1.94806072
43MP0003136_yellow_coat_color1.94468241
44MP0005671_abnormal_response_to1.92883682
45MP0005551_abnormal_eye_electrophysiolog1.92063857
46MP0004782_abnormal_surfactant_physiolog1.86632747
47MP0008058_abnormal_DNA_repair1.85425599
48MP0001529_abnormal_vocalization1.83788105
49MP0003633_abnormal_nervous_system1.80522936
50MP0002638_abnormal_pupillary_reflex1.79229971
51MP0002138_abnormal_hepatobiliary_system1.78006180
52MP0002733_abnormal_thermal_nociception1.77650154
53MP0003941_abnormal_skin_development1.72721927
54MP0002067_abnormal_sensory_capabilities1.71987803
55MP0004142_abnormal_muscle_tone1.71618892
56MP0005646_abnormal_pituitary_gland1.71505479
57MP0003879_abnormal_hair_cell1.70853308
58MP0002419_abnormal_innate_immunity1.68938045
59MP0005451_abnormal_body_composition1.66649911
60MP0004742_abnormal_vestibular_system1.66631006
61MP0003718_maternal_effect1.65193956
62MP0002229_neurodegeneration1.60751997
63MP0004043_abnormal_pH_regulation1.60382098
64MP0006276_abnormal_autonomic_nervous1.60208594
65MP0009764_decreased_sensitivity_to1.59099669
66MP0001905_abnormal_dopamine_level1.57016963
67MP0004924_abnormal_behavior1.56247632
68MP0005386_behavior/neurological_phenoty1.56247632
69MP0003631_nervous_system_phenotype1.55967029
70MP0001440_abnormal_grooming_behavior1.55549417
71MP0003329_amyloid_beta_deposits1.53433991
72MP0001790_abnormal_immune_system1.52527973
73MP0005387_immune_system_phenotype1.52527973
74MP0002557_abnormal_social/conspecific_i1.51846372
75MP0002163_abnormal_gland_morphology1.51838089
76MP0004019_abnormal_vitamin_homeostasis1.50161011
77MP0000778_abnormal_nervous_system1.48725027
78MP0005025_abnormal_response_to1.47530592
79MP0005000_abnormal_immune_tolerance1.46502212
80MP0000372_irregular_coat_pigmentation1.40039007
81MP0003878_abnormal_ear_physiology1.39800593
82MP0005377_hearing/vestibular/ear_phenot1.39800593
83MP0003632_abnormal_nervous_system1.38554538
84MP0002066_abnormal_motor_capabilities/c1.37064809
85MP0003186_abnormal_redox_activity1.36186538
86MP0005645_abnormal_hypothalamus_physiol1.36015827
87MP0002882_abnormal_neuron_morphology1.34606021
88MP0003195_calcinosis1.34211286
89MP0000955_abnormal_spinal_cord1.33193818
90MP0002452_abnormal_antigen_presenting1.32138051
91MP0005084_abnormal_gallbladder_morpholo1.32022606
92MP0009780_abnormal_chondrocyte_physiolo1.31353638
93MP0001119_abnormal_female_reproductive1.31224829
94MP0008872_abnormal_physiological_respon1.29346601
95MP0002095_abnormal_skin_pigmentation1.28272260
96MP0005310_abnormal_salivary_gland1.27424028
97MP0005075_abnormal_melanosome_morpholog1.27201091
98MP0005167_abnormal_blood-brain_barrier1.26136007
99MP0002723_abnormal_immune_serum1.22893503
100MP0005379_endocrine/exocrine_gland_phen1.22869981
101MP0005409_darkened_coat_color1.22580288
102MP0002653_abnormal_ependyma_morphology1.20887111
103MP0008057_abnormal_DNA_replication1.19048981
104MP0004811_abnormal_neuron_physiology1.18124217
105MP0000678_abnormal_parathyroid_gland1.16672831
106MP0002938_white_spotting1.16620884
107MP0004381_abnormal_hair_follicle1.15667029
108MP0003436_decreased_susceptibility_to1.13180756
109MP0001819_abnormal_immune_cell1.12948258
110MP0008004_abnormal_stomach_pH1.11852170
111MP0001177_atelectasis1.09671969
112MP0001800_abnormal_humoral_immune1.09116958
113MP0003763_abnormal_thymus_physiology1.09038014
114MP0002420_abnormal_adaptive_immunity1.08694251
115MP0001984_abnormal_olfaction1.08257490
116MP0003283_abnormal_digestive_organ1.08247582
117MP0003786_premature_aging1.02627607
118MP0003693_abnormal_embryo_hatching1.01423083
119MP0000490_abnormal_crypts_of1.00803491
120MP0001186_pigmentation_phenotype1.00693586
121MP0003634_abnormal_glial_cell1.00649756
122MP0000026_abnormal_inner_ear0.99560948
123MP0002184_abnormal_innervation0.95456075
124MP0008789_abnormal_olfactory_epithelium0.95257721
125MP0008877_abnormal_DNA_methylation0.94955439
126MP0010155_abnormal_intestine_physiology0.94482811
127MP0008875_abnormal_xenobiotic_pharmacok0.92575680
128MP0006082_CNS_inflammation0.92389446
129MP0005253_abnormal_eye_physiology0.92301554
130MP0008007_abnormal_cellular_replicative0.92267266
131MP0000371_diluted_coat_color0.92045227
132MP0010094_abnormal_chromosome_stability0.91613171
133MP0002752_abnormal_somatic_nervous0.90539301
134MP0004130_abnormal_muscle_cell0.87001118
135MP0001502_abnormal_circadian_rhythm0.86920495
136MP0008995_early_reproductive_senescence0.86656617
137MP0002152_abnormal_brain_morphology0.86648557
138MP0004147_increased_porphyrin_level0.86579526
139MP0001346_abnormal_lacrimal_gland0.86061122
140MP0003111_abnormal_nucleus_morphology0.85677460
141MP0002405_respiratory_system_inflammati0.85667036
142MP0002998_abnormal_bone_remodeling0.83524680
143MP0001845_abnormal_inflammatory_respons0.82321522
144MP0000631_abnormal_neuroendocrine_gland0.81448930
145MP0001963_abnormal_hearing_physiology0.80894497
146MP0002136_abnormal_kidney_physiology0.78615270
147MP0005647_abnormal_sex_gland0.78342288
148MP0000538_abnormal_urinary_bladder0.77985110
149MP0002160_abnormal_reproductive_system0.77551333
150MP0002822_catalepsy0.77311752
151MP0005389_reproductive_system_phenotype0.77088389
152MP0001485_abnormal_pinna_reflex0.76118416
153MP0005408_hypopigmentation0.75920552
154MP0002396_abnormal_hematopoietic_system0.75854495
155MP0000613_abnormal_salivary_gland0.75334774
156MP0000716_abnormal_immune_system0.75035001
157MP0000685_abnormal_immune_system0.74716931
158MP0000681_abnormal_thyroid_gland0.74388240
159MP0002909_abnormal_adrenal_gland0.73415476
160MP0003122_maternal_imprinting0.73365261
161MP0002075_abnormal_coat/hair_pigmentati0.72708696
162MP0005464_abnormal_platelet_physiology0.72419814
163MP0000604_amyloidosis0.70198510
164MP0004145_abnormal_muscle_electrophysio0.68761918
165MP0000383_abnormal_hair_follicle0.66734202
166MP0005195_abnormal_posterior_eye0.65489789
167MP0002837_dystrophic_cardiac_calcinosis0.65178449
168MP0003646_muscle_fatigue0.64063985
169MP0002069_abnormal_eating/drinking_beha0.61355797
170MP0005535_abnormal_body_temperature0.58658061
171MP0004215_abnormal_myocardial_fiber0.55349842
172MP0008874_decreased_physiological_sensi0.54691530
173MP0006072_abnormal_retinal_apoptosis0.54239060
174MP0003137_abnormal_impulse_conducting0.54140347
175MP0003938_abnormal_ear_development0.52973466
176MP0004133_heterotaxia0.52618893
177MP0003075_altered_response_to0.51443611
178MP0010329_abnormal_lipoprotein_level0.50978757

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.18876651
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.73897272
3Myokymia (HP:0002411)5.37676629
4Focal seizures (HP:0007359)5.26371050
5Chromsome breakage (HP:0040012)5.15328397
6Degeneration of the lateral corticospinal tracts (HP:0002314)4.79540703
7Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.79540703
8Action tremor (HP:0002345)4.66067368
9Abnormality of the corticospinal tract (HP:0002492)4.33128773
10Epileptic encephalopathy (HP:0200134)4.32386628
11Diplopia (HP:0000651)4.26991059
12Abnormality of binocular vision (HP:0011514)4.26991059
13Atonic seizures (HP:0010819)4.13602225
14Progressive cerebellar ataxia (HP:0002073)3.88248289
15Cerebral hypomyelination (HP:0006808)3.74533471
16Ankle clonus (HP:0011448)3.74251828
17Spastic gait (HP:0002064)3.55181367
18Dialeptic seizures (HP:0011146)3.42619127
19Duplicated collecting system (HP:0000081)3.35746896
20Retrobulbar optic neuritis (HP:0100654)3.34055428
21Optic neuritis (HP:0100653)3.34055428
22Prostate neoplasm (HP:0100787)3.33503824
23Generalized tonic-clonic seizures (HP:0002069)3.25839846
24Scanning speech (HP:0002168)3.25357130
25Limb dystonia (HP:0002451)3.21606484
26Abnormal eating behavior (HP:0100738)3.20365303
27Recurrent abscess formation (HP:0002722)3.19749026
28Abnormality of the renal collecting system (HP:0004742)3.19191272
29Dysmetria (HP:0001310)3.17520615
30Visual hallucinations (HP:0002367)3.15072467
31Absence seizures (HP:0002121)3.11624312
32Hemiparesis (HP:0001269)3.08384847
33Intention tremor (HP:0002080)3.00676177
34Hemiplegia (HP:0002301)2.91970968
35Supranuclear gaze palsy (HP:0000605)2.91162601
36Status epilepticus (HP:0002133)2.90310255
37Neurofibrillary tangles (HP:0002185)2.87221707
38Abnormality of the preputium (HP:0100587)2.83976323
39Postural instability (HP:0002172)2.82266645
40Meckel diverticulum (HP:0002245)2.78309388
41Clubbing of toes (HP:0100760)2.76504208
42Hyperventilation (HP:0002883)2.76372134
43Gaze-evoked nystagmus (HP:0000640)2.76108261
44Aplasia/Hypoplasia of the uvula (HP:0010293)2.73851999
45Morphological abnormality of the pyramidal tract (HP:0002062)2.73567375
46Broad-based gait (HP:0002136)2.72233766
47Hypomagnesemia (HP:0002917)2.68679218
48Abnormality of the ileum (HP:0001549)2.66854633
49Genetic anticipation (HP:0003743)2.66559743
50Urinary bladder sphincter dysfunction (HP:0002839)2.65196846
51Renal cortical cysts (HP:0000803)2.65003514
52CNS hypomyelination (HP:0003429)2.63918786
53Spastic tetraparesis (HP:0001285)2.63647377
54Abnormality of chromosome stability (HP:0003220)2.60172084
55Orchitis (HP:0100796)2.59264853
56Eczematoid dermatitis (HP:0000976)2.57804084
57Urinary urgency (HP:0000012)2.56467751
58White forelock (HP:0002211)2.55454367
59Dysdiadochokinesis (HP:0002075)2.54113609
60Type I transferrin isoform profile (HP:0003642)2.50233299
61Lower limb muscle weakness (HP:0007340)2.46924773
62Abnormality of the prostate (HP:0008775)2.46130544
63Tetany (HP:0001281)2.45735607
64Alveolar cell carcinoma (HP:0006519)2.45013492
65Patchy hypopigmentation of hair (HP:0011365)2.41842605
66Congenital sensorineural hearing impairment (HP:0008527)2.41398536
67Decreased central vision (HP:0007663)2.40234152
68Congenital stationary night blindness (HP:0007642)2.38677914
69Abnormality of chloride homeostasis (HP:0011422)2.38328866
70Anxiety (HP:0000739)2.38234671
71Hyperactive renin-angiotensin system (HP:0000841)2.37869947
72Osteomalacia (HP:0002749)2.37069865
73Epileptiform EEG discharges (HP:0011182)2.36351920
74Peripheral hypomyelination (HP:0007182)2.36123232
75Recurrent bacterial skin infections (HP:0005406)2.35882989
76Metabolic alkalosis (HP:0200114)2.35645187
77Leukodystrophy (HP:0002415)2.34394323
78Morphological abnormality of the inner ear (HP:0011390)2.33457510
79Abnormality of magnesium homeostasis (HP:0004921)2.32348587
80True hermaphroditism (HP:0010459)2.30052594
81Choreoathetosis (HP:0001266)2.29684807
82Abnormality of incisor morphology (HP:0011063)2.26553646
83Prolonged neonatal jaundice (HP:0006579)2.26529841
84Torticollis (HP:0000473)2.24197748
85Absent speech (HP:0001344)2.23173483
86Increased IgM level (HP:0003496)2.23140140
87Recurrent pneumonia (HP:0006532)2.21476335
88Hypoplasia of the fovea (HP:0007750)2.19723344
89Aplasia/Hypoplasia of the fovea (HP:0008060)2.19723344
90Ectopic kidney (HP:0000086)2.18388238
91Myositis (HP:0100614)2.18108155
92Clumsiness (HP:0002312)2.17007999
93Truncal ataxia (HP:0002078)2.16919224
94Abolished electroretinogram (ERG) (HP:0000550)2.15976691
95Megalencephaly (HP:0001355)2.15044973
96Clonus (HP:0002169)2.14631498
97Mutism (HP:0002300)2.13137971
98Proximal tubulopathy (HP:0000114)2.12000607
99Pancreatic fibrosis (HP:0100732)2.09511869
100Sleep apnea (HP:0010535)2.09167160
101Febrile seizures (HP:0002373)2.08945135
102Poor eye contact (HP:0000817)2.08826680
103Septo-optic dysplasia (HP:0100842)2.08732913
104Polyuria (HP:0000103)2.08639330
105Reduced antithrombin III activity (HP:0001976)2.08453562
106Hypothermia (HP:0002045)2.07154147
107Fair hair (HP:0002286)2.06014715
108Impaired smooth pursuit (HP:0007772)2.05837331
109Impaired vibration sensation in the lower limbs (HP:0002166)2.05823321
110Abnormal hair whorl (HP:0010721)2.05779072
111EEG with generalized epileptiform discharges (HP:0011198)2.05466891
112Abnormality of the periventricular white matter (HP:0002518)2.04921417
113Abnormality of renal resorption (HP:0011038)2.03232378
114Polyphagia (HP:0002591)2.02301941
115Abnormality of renal excretion (HP:0011036)2.01401462
116Xerostomia (HP:0000217)2.01201020
117Papilledema (HP:0001085)2.01167803
118Petechiae (HP:0000967)2.01078340
119Mediastinal lymphadenopathy (HP:0100721)2.00429015
120Stridor (HP:0010307)1.98827121
121Stomach cancer (HP:0012126)1.97891013
122Confusion (HP:0001289)1.97323905
123Hypsarrhythmia (HP:0002521)1.96568684
124Hypergonadotropic hypogonadism (HP:0000815)1.96467609
125Encephalitis (HP:0002383)1.96215729
126Chronic obstructive pulmonary disease (HP:0006510)1.95617793
127Obstructive lung disease (HP:0006536)1.95617793
128Neoplasm of the tracheobronchial system (HP:0100552)1.94908693
129Paraplegia (HP:0010550)1.93872910
130Renal tubular acidosis (HP:0001947)1.93285291
131Bradykinesia (HP:0002067)1.93227908
132Keratoconjunctivitis sicca (HP:0001097)1.93181598
133Delusions (HP:0000746)1.93012981
134Abnormality of DNA repair (HP:0003254)1.91888858
135Cerebral inclusion bodies (HP:0100314)1.89975185
136Gingivitis (HP:0000230)1.89750381
137Renal tubular dysfunction (HP:0000124)1.89650341
138Abnormality of macrophages (HP:0004311)1.89493634
139Bone marrow hypocellularity (HP:0005528)1.88429383
140Increased circulating renin level (HP:0000848)1.88355080
141Abnormality of the renal cortex (HP:0011035)1.88009849
142Incomplete penetrance (HP:0003829)1.87815517
143Duplication of thumb phalanx (HP:0009942)1.86765410
144Abnormality of ocular smooth pursuit (HP:0000617)1.86644296
145Spastic paraplegia (HP:0001258)1.86122875
146Abnormality of cochlea (HP:0000375)1.85955534
147Inability to walk (HP:0002540)1.84646728
148Focal dystonia (HP:0004373)1.83347188
149Cheilitis (HP:0100825)1.83049992
150Abnormal urine output (HP:0012590)1.81406869
151Duodenal stenosis (HP:0100867)1.81366694
152Small intestinal stenosis (HP:0012848)1.81366694
153Keratoconjunctivitis (HP:0001096)1.80263130
154Pancreatic cysts (HP:0001737)1.79552192
155Abnormality of male internal genitalia (HP:0000022)1.79422556
156Hyperaldosteronism (HP:0000859)1.79095965
157Tubulointerstitial nephritis (HP:0001970)1.79073489
158Abnormal drinking behavior (HP:0030082)1.78876497
159Polydipsia (HP:0001959)1.78876497
160Abnormality of the fovea (HP:0000493)1.78577681
161Conical tooth (HP:0000698)1.77935037
162Abnormality of renin-angiotensin system (HP:0000847)1.76560254
163Type 2 muscle fiber atrophy (HP:0003554)1.75480719
164Metaphyseal irregularity (HP:0003025)1.75419097
165Oligohydramnios (HP:0001562)1.74784468
166Generalized aminoaciduria (HP:0002909)1.74190454
167Akinesia (HP:0002304)1.74120861
168Spastic tetraplegia (HP:0002510)1.72994357
169Type II lissencephaly (HP:0007260)1.72865181
170Recurrent cutaneous fungal infections (HP:0011370)1.71742419
171Chronic mucocutaneous candidiasis (HP:0002728)1.71742419
172Albinism (HP:0001022)1.71742003
173Bundle branch block (HP:0011710)1.71259900
174Annular pancreas (HP:0001734)1.70215448
175Aplasia of the musculature (HP:0100854)1.70090673
176Postaxial foot polydactyly (HP:0001830)1.70066016
1773-Methylglutaconic aciduria (HP:0003535)1.69598760
178Pulmonary infiltrates (HP:0002113)1.68851687
179Preaxial hand polydactyly (HP:0001177)1.68814494
180Drooling (HP:0002307)1.68460912
181Adrenal hypoplasia (HP:0000835)1.65995964
182Recurrent lower respiratory tract infections (HP:0002783)1.65977967
183Progressive microcephaly (HP:0000253)1.65826203
184Recurrent fungal infections (HP:0002841)1.65624983
185Attenuation of retinal blood vessels (HP:0007843)1.65260318
186Hypokalemic alkalosis (HP:0001949)1.65114951
187Abnormality of the labia minora (HP:0012880)1.63931104
188Craniofacial dystonia (HP:0012179)1.63888734
189Impaired vibratory sensation (HP:0002495)1.62609272
190Gait imbalance (HP:0002141)1.61423574
191Split foot (HP:0001839)1.60144824

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA43.96540958
2NTRK33.83476047
3IRAK33.24049629
4UHMK13.22447001
5ZAK3.19955126
6DAPK23.18847986
7MARK13.08614160
8MAP3K143.00605140
9PAK63.00180911
10BMPR22.90754135
11TXK2.89050060
12NTRK22.62316304
13CASK2.52769722
14IRAK42.34220272
15MAP2K72.21856078
16PLK42.16823704
17STK162.15278351
18INSRR2.13836783
19WNK32.09041496
20EIF2AK22.05349643
21TNIK2.04985926
22PRPF4B2.03927541
23YES12.01226455
24STK38L1.98158214
25FGFR21.95636359
26CAMKK11.93583137
27MAP3K91.86647650
28PRKD31.86031217
29MINK11.81173200
30CAMK2B1.70648261
31SIK31.63070099
32PINK11.57395485
33TEC1.57235989
34ADRBK21.55561489
35MKNK21.54293817
36NUAK11.53511395
37AKT31.52850204
38NLK1.51833903
39PHKG21.49633779
40PHKG11.49633779
41GRK51.46182720
42ERBB31.44754921
43BLK1.43074306
44PRKCG1.40881206
45IKBKB1.38538476
46CAMKK21.35829450
47SGK21.35002296
48CDK51.34044306
49SRPK11.32732784
50PAK31.32192015
51OXSR11.31257587
52BMPR1B1.23354091
53IKBKE1.22189638
54CAMK11.21909904
55JAK31.21414547
56NEK61.20028138
57GRK11.17944824
58CAMK2A1.17674997
59MUSK1.17480929
60CAMK2G1.17479808
61IRAK11.16817902
62PRKCH1.14511629
63WNK41.13747795
64CAMK2D1.06792863
65CDK31.06514873
66VRK11.06437864
67MST41.02595322
68TIE11.02436809
69CDK80.99617106
70STK110.98661365
71EPHA30.97791037
72MAP3K40.95742599
73MKNK10.94621049
74NTRK10.94354512
75DYRK1A0.93958842
76MAPKAPK50.92494535
77GRK70.92191342
78TYRO30.92033645
79PBK0.90692783
80EIF2AK30.90286698
81DAPK10.88707263
82CHUK0.88503597
83SGK2230.88500019
84SGK4940.88500019
85CSNK1G20.82872291
86BTK0.81624614
87TNK20.81080215
88STK380.80672165
89KIT0.79048729
90SIK20.78667975
91CLK10.77846791
92MAPK130.77042595
93TAOK30.76463311
94PRKCZ0.75610719
95DAPK30.74141414
96JAK10.74026630
97RIPK40.72447988
98MAP4K20.72044164
99DYRK20.71963960
100LYN0.71229924
101PIM20.68201957
102ALK0.67550018
103TYK20.67251677
104TRPM70.64717673
105PTK2B0.64643515
106TTK0.63908449
107PIM10.61324958
108RPS6KA30.61069317
109MAP3K120.60920467
110PKN10.60902304
111MAPK120.59623187
112PRKD10.59550563
113PRKCE0.58695393
114ROCK20.58437347
115SGK30.57755903
116ERBB20.57347091
117PIK3CA0.57047550
118PRKG10.56737005
119MAPK100.56733943
120PDK10.56106398
121LIMK10.55683345
122WNK10.55669560
123BRAF0.55344959
124FRK0.54888675
125PRKCA0.54661159
126IRAK20.53736562
127EIF2AK10.52401348
128NEK90.51588258
129ATR0.51498697
130CDK150.50935493
131PRKACA0.50870293
132CSNK1G30.50774211
133CSNK1D0.49892982
134CSNK1A1L0.49882804
135CCNB10.49848305
136STK240.49791723
137SYK0.49305981
138CDK180.48480364
139CAMK40.48219100
140CSNK1G10.47975590
141PRKCD0.46308076
142MAP2K10.46229713
143ACVR1B0.45206939
144PLK10.45023815
145CDK190.44904544
146CDK140.43099026
147BRD40.42193926
148CDK11A0.40765918
149FYN0.40681357
150BUB10.38311245
151TLK10.38291025
152FES0.38115293
153PLK20.37425412
154PLK30.36469861
155PRKCB0.36356833
156MAP4K10.35044391
157CHEK20.34384149
158STK30.30324891
159STK40.30144567
160EPHA20.30115245
161TBK10.29351050
162BCR0.29195094
163ERBB40.28847485
164SGK10.28464716
165TAOK20.27302148
166CDK90.27247098
167CSNK1A10.26661961
168ABL10.26428934
169STK390.25441001
170PRKCQ0.23315447

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.14784246
2Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.93441646
3GABAergic synapse_Homo sapiens_hsa047272.86510314
4Morphine addiction_Homo sapiens_hsa050322.84305924
5Fanconi anemia pathway_Homo sapiens_hsa034602.74912642
6Circadian entrainment_Homo sapiens_hsa047132.60118389
7Glutamatergic synapse_Homo sapiens_hsa047242.57750434
8Insulin secretion_Homo sapiens_hsa049112.56717375
9Graft-versus-host disease_Homo sapiens_hsa053322.53805840
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.44776060
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41151755
12Allograft rejection_Homo sapiens_hsa053302.34788695
13Vitamin digestion and absorption_Homo sapiens_hsa049772.33449051
14Amphetamine addiction_Homo sapiens_hsa050312.25312721
15Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.21034009
16Homologous recombination_Homo sapiens_hsa034402.18282067
17Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007602.15572497
18Arachidonic acid metabolism_Homo sapiens_hsa005902.11048684
19Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.06491455
20Gastric acid secretion_Homo sapiens_hsa049712.03324835
21NF-kappa B signaling pathway_Homo sapiens_hsa040642.00889564
22Rheumatoid arthritis_Homo sapiens_hsa053231.98184546
23Autoimmune thyroid disease_Homo sapiens_hsa053201.96602917
24Long-term potentiation_Homo sapiens_hsa047201.96158258
25Other glycan degradation_Homo sapiens_hsa005111.91421409
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.91330445
27Salivary secretion_Homo sapiens_hsa049701.84024980
28Dopaminergic synapse_Homo sapiens_hsa047281.78875381
29Olfactory transduction_Homo sapiens_hsa047401.75358496
30Non-homologous end-joining_Homo sapiens_hsa034501.72434556
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.69567310
32Cocaine addiction_Homo sapiens_hsa050301.66677122
33Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.61209422
34SNARE interactions in vesicular transport_Homo sapiens_hsa041301.60430957
35Sphingolipid metabolism_Homo sapiens_hsa006001.58667327
36NOD-like receptor signaling pathway_Homo sapiens_hsa046211.53669409
37Calcium signaling pathway_Homo sapiens_hsa040201.50373586
38Basal transcription factors_Homo sapiens_hsa030221.49024200
39Measles_Homo sapiens_hsa051621.47930691
40Hematopoietic cell lineage_Homo sapiens_hsa046401.47665914
41Nitrogen metabolism_Homo sapiens_hsa009101.47352702
42Renin secretion_Homo sapiens_hsa049241.46029718
43RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.45975532
44* Histidine metabolism_Homo sapiens_hsa003401.44014444
45Asthma_Homo sapiens_hsa053101.42852165
46Collecting duct acid secretion_Homo sapiens_hsa049661.42847333
47RNA polymerase_Homo sapiens_hsa030201.42251563
48Aldosterone synthesis and secretion_Homo sapiens_hsa049251.41841645
49Type I diabetes mellitus_Homo sapiens_hsa049401.41126081
50Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.38859097
51Cholinergic synapse_Homo sapiens_hsa047251.36839765
52Protein export_Homo sapiens_hsa030601.33962818
53Pentose and glucuronate interconversions_Homo sapiens_hsa000401.32931781
54cAMP signaling pathway_Homo sapiens_hsa040241.32807380
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.32406101
56Base excision repair_Homo sapiens_hsa034101.31733449
57Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.31439079
58Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.29752368
59Bile secretion_Homo sapiens_hsa049761.29585559
60Glycosaminoglycan degradation_Homo sapiens_hsa005311.29264442
61Toll-like receptor signaling pathway_Homo sapiens_hsa046201.28818753
62Oxytocin signaling pathway_Homo sapiens_hsa049211.26241629
63Herpes simplex infection_Homo sapiens_hsa051681.23950921
64Leishmaniasis_Homo sapiens_hsa051401.22695284
65Pyrimidine metabolism_Homo sapiens_hsa002401.21719416
66Primary immunodeficiency_Homo sapiens_hsa053401.20188631
67Legionellosis_Homo sapiens_hsa051341.18592431
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.18388305
69Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.18222036
70alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.18131325
71Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.14905241
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.14541709
73Linoleic acid metabolism_Homo sapiens_hsa005911.13674252
74Butanoate metabolism_Homo sapiens_hsa006501.13504295
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.13473959
76Vitamin B6 metabolism_Homo sapiens_hsa007501.12647195
77Malaria_Homo sapiens_hsa051441.09531658
78Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.09227757
79Primary bile acid biosynthesis_Homo sapiens_hsa001201.08907708
80Regulation of autophagy_Homo sapiens_hsa041401.03837445
81Ether lipid metabolism_Homo sapiens_hsa005651.03122355
82Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.01693437
83Long-term depression_Homo sapiens_hsa047301.01334208
84Cardiac muscle contraction_Homo sapiens_hsa042601.00959879
85Caffeine metabolism_Homo sapiens_hsa002321.00505567
86Phagosome_Homo sapiens_hsa041450.98770322
87RNA degradation_Homo sapiens_hsa030180.97818869
88Jak-STAT signaling pathway_Homo sapiens_hsa046300.96935341
89* beta-Alanine metabolism_Homo sapiens_hsa004100.96273087
90Purine metabolism_Homo sapiens_hsa002300.95265671
91Influenza A_Homo sapiens_hsa051640.94946434
92DNA replication_Homo sapiens_hsa030300.94206142
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.94073920
94Mineral absorption_Homo sapiens_hsa049780.93563916
95Vascular smooth muscle contraction_Homo sapiens_hsa042700.90969141
96Proteasome_Homo sapiens_hsa030500.89695396
97TNF signaling pathway_Homo sapiens_hsa046680.89602599
98Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.89399786
99Pancreatic secretion_Homo sapiens_hsa049720.88409333
100Tuberculosis_Homo sapiens_hsa051520.85549935
101Steroid hormone biosynthesis_Homo sapiens_hsa001400.84493481
102Oxidative phosphorylation_Homo sapiens_hsa001900.81899051
103Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.81732372
104Mismatch repair_Homo sapiens_hsa034300.81422931
105Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.81346009
106Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.81122912
107Ovarian steroidogenesis_Homo sapiens_hsa049130.79503426
108Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78744053
109Tryptophan metabolism_Homo sapiens_hsa003800.77494852
110Chemical carcinogenesis_Homo sapiens_hsa052040.76517458
111African trypanosomiasis_Homo sapiens_hsa051430.76342095
112Folate biosynthesis_Homo sapiens_hsa007900.74756254
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72522457
114cGMP-PKG signaling pathway_Homo sapiens_hsa040220.70743659
115* Arginine and proline metabolism_Homo sapiens_hsa003300.70714478
116Thyroid hormone synthesis_Homo sapiens_hsa049180.69777600
117Peroxisome_Homo sapiens_hsa041460.69747125
118Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69727257
119Pertussis_Homo sapiens_hsa051330.67865704
120Arginine biosynthesis_Homo sapiens_hsa002200.65563236
121Alzheimers disease_Homo sapiens_hsa050100.65407535
122p53 signaling pathway_Homo sapiens_hsa041150.64283147
123Carbohydrate digestion and absorption_Homo sapiens_hsa049730.61580394
124One carbon pool by folate_Homo sapiens_hsa006700.61480692
125Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61404559
126Phototransduction_Homo sapiens_hsa047440.60073071
127Phospholipase D signaling pathway_Homo sapiens_hsa040720.57454669
128Staphylococcus aureus infection_Homo sapiens_hsa051500.56820642
129Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.56648965
130Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56219113
131Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.55641988
132Chemokine signaling pathway_Homo sapiens_hsa040620.53568873
133Ras signaling pathway_Homo sapiens_hsa040140.53075769
134Apoptosis_Homo sapiens_hsa042100.52566954
135Nucleotide excision repair_Homo sapiens_hsa034200.52343525
136Lysosome_Homo sapiens_hsa041420.52014185
137Hepatitis C_Homo sapiens_hsa051600.51963499
138Dorso-ventral axis formation_Homo sapiens_hsa043200.51932465
139Estrogen signaling pathway_Homo sapiens_hsa049150.51921057
140Steroid biosynthesis_Homo sapiens_hsa001000.51900891
141Gap junction_Homo sapiens_hsa045400.51572708
142Glycerolipid metabolism_Homo sapiens_hsa005610.51253806
143Axon guidance_Homo sapiens_hsa043600.51043980
144Retinol metabolism_Homo sapiens_hsa008300.50214161
145Oocyte meiosis_Homo sapiens_hsa041140.49529242
146Starch and sucrose metabolism_Homo sapiens_hsa005000.49382868
147Osteoclast differentiation_Homo sapiens_hsa043800.49110782
148Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.48912174
149GnRH signaling pathway_Homo sapiens_hsa049120.48806656
150Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48258005
151Type II diabetes mellitus_Homo sapiens_hsa049300.48192495
152ABC transporters_Homo sapiens_hsa020100.48150925
153Salmonella infection_Homo sapiens_hsa051320.48136727
154Sulfur metabolism_Homo sapiens_hsa009200.48093555
155Cell cycle_Homo sapiens_hsa041100.46182853
156Melanogenesis_Homo sapiens_hsa049160.44432776
157Taste transduction_Homo sapiens_hsa047420.44273733
158Parkinsons disease_Homo sapiens_hsa050120.43759167
159Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43260437
160MAPK signaling pathway_Homo sapiens_hsa040100.40859023
161Maturity onset diabetes of the young_Homo sapiens_hsa049500.39404978
162* Metabolic pathways_Homo sapiens_hsa011000.38948088
163Phenylalanine metabolism_Homo sapiens_hsa003600.38012142
164Fatty acid biosynthesis_Homo sapiens_hsa000610.37297167
165Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.36586104
166Serotonergic synapse_Homo sapiens_hsa047260.36270782
167Nicotine addiction_Homo sapiens_hsa050330.36158445
168Inositol phosphate metabolism_Homo sapiens_hsa005620.36047455
169Circadian rhythm_Homo sapiens_hsa047100.34088954
170Huntingtons disease_Homo sapiens_hsa050160.33981791
171Glutathione metabolism_Homo sapiens_hsa004800.33773607
172Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33011664

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