NT5M

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 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gonadal mesoderm development (GO:0007506)7.64410141
2negative regulation of erythrocyte differentiation (GO:0045647)6.73598081
3thrombin receptor signaling pathway (GO:0070493)6.54518750
4protein neddylation (GO:0045116)5.89048857
5neutrophil activation involved in immune response (GO:0002283)5.48135998
6mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.43299185
7energy coupled proton transport, down electrochemical gradient (GO:0015985)5.17326038
8ATP synthesis coupled proton transport (GO:0015986)5.17326038
9regulation of platelet aggregation (GO:0090330)5.12827779
10synaptic vesicle exocytosis (GO:0016079)4.89586927
11blood coagulation, intrinsic pathway (GO:0007597)4.86756972
12adenosine receptor signaling pathway (GO:0001973)4.86207512
13definitive hemopoiesis (GO:0060216)4.81503214
14lipoxygenase pathway (GO:0019372)4.66407990
15megakaryocyte development (GO:0035855)4.64789569
16mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.64119304
17positive regulation of mast cell activation (GO:0033005)4.60824515
18protoporphyrinogen IX metabolic process (GO:0046501)4.48923455
19purinergic nucleotide receptor signaling pathway (GO:0035590)4.32127755
20positive regulation of granulocyte differentiation (GO:0030854)4.29452685
21chaperone-mediated protein transport (GO:0072321)4.28574544
22respiratory electron transport chain (GO:0022904)4.27267625
23platelet aggregation (GO:0070527)4.21023799
24electron transport chain (GO:0022900)4.18656522
25neuronal action potential propagation (GO:0019227)4.11088954
26negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)4.08700491
27regulation of platelet activation (GO:0010543)4.07645263
28regulation of erythrocyte differentiation (GO:0045646)4.07644853
29positive regulation of B cell differentiation (GO:0045579)4.00490519
30leukocyte migration involved in inflammatory response (GO:0002523)4.00081330
31platelet formation (GO:0030220)4.00028736
32regulation of mast cell degranulation (GO:0043304)3.92156325
33positive regulation of mast cell activation involved in immune response (GO:0033008)3.84774604
34positive regulation of mast cell degranulation (GO:0043306)3.84774604
35polyamine biosynthetic process (GO:0006596)3.81946879
36synaptic vesicle maturation (GO:0016188)3.79941832
37cellular response to thyroid hormone stimulus (GO:0097067)3.78491113
38regulation of short-term neuronal synaptic plasticity (GO:0048172)3.76397420
39regulation of mast cell activation involved in immune response (GO:0033006)3.75493835
40purinergic receptor signaling pathway (GO:0035587)3.73916794
41regulation of oxidative phosphorylation (GO:0002082)3.72292599
42positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.71757105
43regulation of megakaryocyte differentiation (GO:0045652)3.71169301
44granulocyte differentiation (GO:0030851)3.70365577
45negative regulation of norepinephrine secretion (GO:0010700)3.64315669
46regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.62847705
47protein complex biogenesis (GO:0070271)3.62398517
48* deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.61869549
49positive regulation of inositol phosphate biosynthetic process (GO:0060732)3.60181669
50* pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.57438958
51angiogenesis involved in wound healing (GO:0060055)3.54848923
52vocalization behavior (GO:0071625)3.49763022
53neuron cell-cell adhesion (GO:0007158)3.45447660
54myeloid cell development (GO:0061515)3.44675399
55regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.44592873
56mitochondrial calcium ion transport (GO:0006851)3.43619920
57regulation of synaptic vesicle exocytosis (GO:2000300)3.42827690
58G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.42367441
59purine-containing compound salvage (GO:0043101)3.41552895
60regulation of glutamate receptor signaling pathway (GO:1900449)3.38823206
61protoporphyrinogen IX biosynthetic process (GO:0006782)3.36711728
62negative regulation of thymocyte apoptotic process (GO:0070244)3.36402999
63intraciliary transport (GO:0042073)3.35668201
64glutamate secretion (GO:0014047)3.35348447
65regulation of inositol phosphate biosynthetic process (GO:0010919)3.33456564
66autophagic vacuole fusion (GO:0000046)3.33369288
67erythrocyte maturation (GO:0043249)3.32232726
68energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.29969584
69ATP hydrolysis coupled proton transport (GO:0015991)3.29969584
70synaptic transmission, glutamatergic (GO:0035249)3.29372074
71neuromuscular process controlling posture (GO:0050884)3.29355587
72mitochondrial respiratory chain complex assembly (GO:0033108)3.27456889
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.26364071
74oxygen transport (GO:0015671)3.26069310
75mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.25727513
76mitochondrial respiratory chain complex I assembly (GO:0032981)3.25727513
77NADH dehydrogenase complex assembly (GO:0010257)3.25727513
78ATP biosynthetic process (GO:0006754)3.24235682
79monoamine transport (GO:0015844)3.21250492
80regulation of synaptic vesicle transport (GO:1902803)3.20954451
81ionotropic glutamate receptor signaling pathway (GO:0035235)3.20649304
82regulation of mast cell activation (GO:0033003)3.19803829
83* pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.18078795
84inner mitochondrial membrane organization (GO:0007007)3.16056891
85neurotransmitter secretion (GO:0007269)3.15566649
86deoxyribose phosphate biosynthetic process (GO:0046385)3.15479620
872-deoxyribonucleotide biosynthetic process (GO:0009265)3.15479620
88neutrophil activation (GO:0042119)3.14657150
89protein localization to synapse (GO:0035418)3.14236716
90regulation of synapse structural plasticity (GO:0051823)3.11744906
91mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.10397080
92cellular biogenic amine biosynthetic process (GO:0042401)3.09706426
93purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.07160574
94positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.07138337
95regulation of histone H3-K9 methylation (GO:0051570)3.06790141
96calcium-mediated signaling using intracellular calcium source (GO:0035584)3.06601866
97neuron-neuron synaptic transmission (GO:0007270)3.06242287
98* deoxyribonucleotide catabolic process (GO:0009264)3.05627491
99pentose metabolic process (GO:0019321)3.04142975
100hydrogen ion transmembrane transport (GO:1902600)3.03825013
101locomotory exploration behavior (GO:0035641)3.03587726
102regulation of myeloid leukocyte mediated immunity (GO:0002886)3.02694727
103purine nucleoside triphosphate biosynthetic process (GO:0009145)3.02243686
104cyclooxygenase pathway (GO:0019371)3.00780139
105dopamine transport (GO:0015872)3.00491479
106negative regulation of heart rate (GO:0010459)3.00331509
107regulation of neuronal synaptic plasticity (GO:0048168)2.97972541
108glutamate receptor signaling pathway (GO:0007215)2.97423991
109ribosomal small subunit assembly (GO:0000028)2.96937847
110exploration behavior (GO:0035640)2.96508063
111positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.95908486
112viral transcription (GO:0019083)2.93150900
113positive regulation of endothelial cell differentiation (GO:0045603)2.92208018
114amine biosynthetic process (GO:0009309)2.91194751
115positive regulation of synapse maturation (GO:0090129)2.90447073
116NADH metabolic process (GO:0006734)2.90308496
117positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.90218937
118synaptic vesicle docking involved in exocytosis (GO:0016081)2.89711855
119regulation of leukocyte degranulation (GO:0043300)2.89494648
120G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.88711118
121regulation of vesicle fusion (GO:0031338)2.87881694
122negative regulation of microtubule polymerization (GO:0031115)2.86193412
123porphyrin-containing compound biosynthetic process (GO:0006779)2.85884137
124gamma-aminobutyric acid signaling pathway (GO:0007214)2.85663659
125homotypic cell-cell adhesion (GO:0034109)2.85406764
126calcium ion-dependent exocytosis (GO:0017156)2.85329959
127oxidative phosphorylation (GO:0006119)2.85167200
128postsynaptic membrane organization (GO:0001941)2.84911371
129iron-sulfur cluster assembly (GO:0016226)2.84567780
130metallo-sulfur cluster assembly (GO:0031163)2.84567780
131* deoxyribose phosphate catabolic process (GO:0046386)2.83241969
132protein localization to cilium (GO:0061512)2.83049141
133heme biosynthetic process (GO:0006783)2.82820908
134regulation of catecholamine metabolic process (GO:0042069)2.82702123
135regulation of dopamine metabolic process (GO:0042053)2.82702123
136detection of calcium ion (GO:0005513)2.82620480
137Arp2/3 complex-mediated actin nucleation (GO:0034314)2.82429259
138regulation of granulocyte differentiation (GO:0030852)2.81948458
139cerebellar Purkinje cell differentiation (GO:0021702)2.81870972
140cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.80822263
141leukocyte degranulation (GO:0043299)2.80548828
142negative regulation of homotypic cell-cell adhesion (GO:0034111)2.80011928
143long-term memory (GO:0007616)2.78759146
144ribonucleoside triphosphate biosynthetic process (GO:0009201)2.77615690
145endothelium development (GO:0003158)2.77500635
146regulation of mitochondrial translation (GO:0070129)2.77453133
147granulocyte activation (GO:0036230)2.76006533
148catecholamine transport (GO:0051937)2.74279300
149GDP-mannose metabolic process (GO:0019673)2.74250343
150membrane depolarization during action potential (GO:0086010)2.73941240
151respiratory chain complex IV assembly (GO:0008535)2.73922238
152regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.73258555
153cell communication by electrical coupling (GO:0010644)2.73129204
154positive regulation of Rho protein signal transduction (GO:0035025)2.72278419
155translational termination (GO:0006415)2.71944240
156regulation of long-term neuronal synaptic plasticity (GO:0048169)2.70600427
157fusion of sperm to egg plasma membrane (GO:0007342)2.70198368
158regulation of axon regeneration (GO:0048679)2.67449756
159regulation of neuron projection regeneration (GO:0070570)2.67449756
160neurotransmitter transport (GO:0006836)2.67294665
161neuron recognition (GO:0008038)2.66902314
162tetrapyrrole biosynthetic process (GO:0033014)2.66306896
163negative regulation of synaptic transmission, GABAergic (GO:0032229)2.66275205
164positive regulation of membrane potential (GO:0045838)2.66199735
165activation of protein kinase A activity (GO:0034199)2.66189786
166proton transport (GO:0015992)2.66137895
167transmission of nerve impulse (GO:0019226)2.65185867
168gas transport (GO:0015669)2.64312901
169behavioral fear response (GO:0001662)2.63394051
170behavioral defense response (GO:0002209)2.63394051
171fear response (GO:0042596)2.63176058
172regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.62544077
173regulation of female receptivity (GO:0045924)2.62358261
174hydrogen transport (GO:0006818)2.62196962
175regulation of homotypic cell-cell adhesion (GO:0034110)2.62031480
176negative regulation of response to food (GO:0032096)2.61755181
177negative regulation of appetite (GO:0032099)2.61755181
178protein maturation by protein folding (GO:0022417)2.61731588
179presynaptic membrane organization (GO:0097090)2.59415356
180response to thyroid hormone (GO:0097066)2.59385556
181negative regulation of T cell apoptotic process (GO:0070233)2.58180366
182positive regulation of potassium ion transmembrane transport (GO:1901381)2.57757559
183regulation of cellular respiration (GO:0043457)2.57522705
184positive regulation of gamma-delta T cell activation (GO:0046645)2.57455142
185neuromuscular synaptic transmission (GO:0007274)2.57361443
186establishment of synaptic vesicle localization (GO:0097480)2.57188970
187synaptic vesicle transport (GO:0048489)2.57188970
188synaptic vesicle endocytosis (GO:0048488)2.57184367
189* pyrimidine nucleotide catabolic process (GO:0006244)2.57173740
190polyamine metabolic process (GO:0006595)2.57137889
191negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.52947891
192purine deoxyribonucleotide catabolic process (GO:0009155)2.52905184
193skeletal muscle tissue regeneration (GO:0043403)2.52904014
194platelet activation (GO:0030168)2.52752162
195positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.52333293
196* deoxyribose phosphate metabolic process (GO:0019692)2.52296173
197negative regulation of catecholamine secretion (GO:0033604)2.50028141
198erythrocyte development (GO:0048821)2.49944372
199synaptic transmission, dopaminergic (GO:0001963)2.49308473

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.17519808
2SCL_19346495_ChIP-Seq_HPC-7_Human4.62750477
3RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.28153931
4GBX2_23144817_ChIP-Seq_PC3_Human3.09317313
5SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.99960270
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.94462350
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.93986367
8GATA1_19941826_ChIP-Seq_K562_Human2.84788849
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.70397200
10ELF1_17652178_ChIP-ChIP_JURKAT_Human2.68632169
11GATA1_19941827_ChIP-Seq_MEL_Mouse2.57167746
12LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.56642508
13VDR_21846776_ChIP-Seq_THP-1_Human2.55148334
14REST_21632747_ChIP-Seq_MESCs_Mouse2.53892638
15JARID2_20064375_ChIP-Seq_MESCs_Mouse2.49583207
16TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.45342604
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43727009
18* GATA1_22383799_ChIP-Seq_G1ME_Mouse2.43340870
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.41537060
20* CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.35133552
21TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.30144020
22GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.28049544
23TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.28015130
24RBPJ_22232070_ChIP-Seq_NCS_Mouse2.26905040
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.25019926
26EZH2_27304074_Chip-Seq_ESCs_Mouse2.18904341
27SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.18352712
28MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.18208927
29* MYC_22102868_ChIP-Seq_BL_Human2.18094549
30HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.17163642
31FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.16119411
32TAF15_26573619_Chip-Seq_HEK293_Human2.15785555
33SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.15524440
34SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.13341211
35IKZF1_21737484_ChIP-ChIP_HCT116_Human2.11065115
36* ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.10737288
37GATA2_20887958_ChIP-Seq_HPC-7_Mouse2.10403821
38* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.09471218
39RUNX1_22412390_ChIP-Seq_EML_Mouse2.08707251
40SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03098364
41SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.01507344
42* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.99464301
43EZH2_27294783_Chip-Seq_ESCs_Mouse1.97778596
44GATA2_19941826_ChIP-Seq_K562_Human1.97184166
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.96703247
46EZH2_18974828_ChIP-Seq_MESCs_Mouse1.96241726
47RNF2_18974828_ChIP-Seq_MESCs_Mouse1.96241726
48ZNF274_21170338_ChIP-Seq_K562_Hela1.88296284
49NCOR1_26117541_ChIP-Seq_K562_Human1.87223164
50ELF1_20517297_ChIP-Seq_JURKAT_Human1.86800832
51NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86480360
52SPI1_23127762_ChIP-Seq_K562_Human1.86356979
53SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.86113995
54GATA1_22025678_ChIP-Seq_K562_Human1.85949400
55EED_16625203_ChIP-ChIP_MESCs_Mouse1.80213541
56* UTX_26944678_Chip-Seq_JUKART_Human1.79652735
57GATA2_22383799_ChIP-Seq_G1ME_Mouse1.77485002
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.75764081
59VDR_24763502_ChIP-Seq_THP-1_Human1.75728437
60RARB_27405468_Chip-Seq_BRAIN_Mouse1.73767738
61CTBP2_25329375_ChIP-Seq_LNCAP_Human1.73278426
62IGF1R_20145208_ChIP-Seq_DFB_Human1.71533968
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.70327998
64TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70039239
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67440305
66BMI1_23680149_ChIP-Seq_NPCS_Mouse1.63747066
67E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62281147
68* BCL6_27268052_Chip-Seq_Bcells_Human1.62069859
69DROSHA_22980978_ChIP-Seq_HELA_Human1.60692046
70TET1_21451524_ChIP-Seq_MESCs_Mouse1.59616782
71P68_20966046_ChIP-Seq_HELA_Human1.59581513
72* SPI1_23547873_ChIP-Seq_NB4_Human1.59113490
73TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.58064445
74RNF2_27304074_Chip-Seq_ESCs_Mouse1.55385038
75SPI1_20517297_ChIP-Seq_HL60_Human1.53968663
76HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.53577862
77VDR_22108803_ChIP-Seq_LS180_Human1.53158855
78THAP11_20581084_ChIP-Seq_MESCs_Mouse1.52775210
79MYC_18358816_ChIP-ChIP_MESCs_Mouse1.52410673
80E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.51093587
81NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.50541026
82KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.49601522
83MAF_26560356_Chip-Seq_TH1_Human1.49579430
84* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.49042679
85KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.48168996
86PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47492397
87TCF7_22412390_ChIP-Seq_EML_Mouse1.47034849
88MYB_21317192_ChIP-Seq_ERMYB_Mouse1.46479224
89HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.44644131
90HOXB4_20404135_ChIP-ChIP_EML_Mouse1.44338765
91CBX2_27304074_Chip-Seq_ESCs_Mouse1.44263487
92BCOR_27268052_Chip-Seq_Bcells_Human1.44011232
93* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.43831506
94CTCF_21964334_ChIP-Seq_BJAB-B_Human1.37537871
95* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.37007467
96* CTCF_18555785_ChIP-Seq_MESCs_Mouse1.36812323
97LXR_22292898_ChIP-Seq_THP-1_Human1.36774051
98ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36588830
99GABP_17652178_ChIP-ChIP_JURKAT_Human1.34439264
100CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.32060069
101CTCF_21964334_Chip-Seq_Bcells_Human1.30356723
102* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.29164654
103* CTCF_26484167_Chip-Seq_Bcells_Mouse1.28434644
104* MAF_26560356_Chip-Seq_TH2_Human1.28112248
105SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.28001383
106SRF_21415370_ChIP-Seq_HL-1_Mouse1.27995758
107SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.26158944
108GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.25505930
109PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.25206193
110BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.24197654
111MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.24194094
112LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.23986055
113* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22963015
114* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22892977
115* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.21191423
116MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.20933922
117PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.20895458
118SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20790689
119ZNF263_19887448_ChIP-Seq_K562_Human1.19594651
120P300_27268052_Chip-Seq_Bcells_Human1.16905696
121ELK3_25401928_ChIP-Seq_HUVEC_Human1.16459314
122KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16101921
123NR3C1_23031785_ChIP-Seq_PC12_Mouse1.15089316
124CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.14171041
125* SA1_27219007_Chip-Seq_ERYTHROID_Human1.13760663
126* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13373617
127SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.12108742
128E2F7_22180533_ChIP-Seq_HELA_Human1.12074494
129KDM2B_26808549_Chip-Seq_DND41_Human1.11038543
130P300_19829295_ChIP-Seq_ESCs_Human1.09459351
131THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.09151613
132FOXP3_21729870_ChIP-Seq_TREG_Human1.09114985
133PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07720536
134PU.1_20513432_ChIP-Seq_Bcells_Mouse1.07622112
135ETS1_22383799_ChIP-Seq_G1ME_Mouse1.07106568
136MYB_26560356_Chip-Seq_TH2_Human1.04870716
137FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.04522027
138CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.02685596
139ETS1_20019798_ChIP-Seq_JURKAT_Human1.02552452
140PHF8_20622854_ChIP-Seq_HELA_Human1.02497434
141YY1_21170310_ChIP-Seq_MESCs_Mouse1.01549784
142PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.01236747
143* SMAD4_21799915_ChIP-Seq_A2780_Human1.00163226
144CTCF_27219007_Chip-Seq_Bcells_Human0.98076204
145GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97173695
146TOP2B_26459242_ChIP-Seq_MCF-7_Human0.96880916
147RNF2_27304074_Chip-Seq_NSC_Mouse0.96640606
148DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96260359
149STAT1_20625510_ChIP-Seq_HELA_Human0.96141052
150SRY_22984422_ChIP-ChIP_TESTIS_Rat0.96012916
151RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.92016498
152MYC_18555785_ChIP-Seq_MESCs_Mouse0.91916129
153STAT4_19710469_ChIP-ChIP_TH1__Mouse0.91709040
154RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91336745
155KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.91332997
156RING1B_27294783_Chip-Seq_ESCs_Mouse0.90577149
157PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.89939632
158CTCF_20526341_ChIP-Seq_ESCs_Human0.88956299
159FOXP1_21924763_ChIP-Seq_HESCs_Human0.88047945
160NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.87628567
161AR_25329375_ChIP-Seq_VCAP_Human0.87586438
162ERG_21242973_ChIP-ChIP_JURKAT_Human0.85681123
163EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.84640267
164JUN_21703547_ChIP-Seq_K562_Human0.84262321
165EST1_17652178_ChIP-ChIP_JURKAT_Human0.82797613
166UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.82187309
167DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.81544782
168* REST_19997604_ChIP-ChIP_NEURONS_Mouse0.81099818
169* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.80250273
170SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79945144
171IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.79548813
172CBP_20019798_ChIP-Seq_JUKART_Human0.79548813
173MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.79296014
174POU3F2_20337985_ChIP-ChIP_501MEL_Human0.78613724
175OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.77832606
176SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.77830528
177* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.76579743
178YY1_22570637_ChIP-Seq_MALME-3M_Human0.76510461
179* TP53_22573176_ChIP-Seq_HFKS_Human0.75676442
180FUS_26573619_Chip-Seq_HEK293_Human0.74645569
181* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.72272159
182MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.72038483
183* SOX2_21211035_ChIP-Seq_LN229_Gbm0.70005284

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005464_abnormal_platelet_physiology7.86252334
2MP0004859_abnormal_synaptic_plasticity4.56780500
3MP0003880_abnormal_central_pattern4.31885881
4MP0000465_gastrointestinal_hemorrhage4.08319347
5MP0008004_abnormal_stomach_pH3.88894438
6MP0003635_abnormal_synaptic_transmissio3.37182829
7MP0003656_abnormal_erythrocyte_physiolo3.24584617
8MP0001545_abnormal_hematopoietic_system3.15170167
9MP0005397_hematopoietic_system_phenotyp3.15170167
10MP0002837_dystrophic_cardiac_calcinosis3.00637617
11MP0001968_abnormal_touch/_nociception2.96524424
12MP0002735_abnormal_chemical_nociception2.81765785
13MP0009745_abnormal_behavioral_response2.78195730
14MP0002064_seizures2.61642368
15MP0006276_abnormal_autonomic_nervous2.60265458
16MP0004270_analgesia2.58655659
17MP0003724_increased_susceptibility_to2.58420699
18MP0002063_abnormal_learning/memory/cond2.58034562
19MP0002272_abnormal_nervous_system2.53254734
20MP0003303_peritoneal_inflammation2.43393990
21MP0002572_abnormal_emotion/affect_behav2.42036286
22MP0002736_abnormal_nociception_after2.39459297
23MP0009046_muscle_twitch2.36586608
24MP0002132_abnormal_respiratory_system2.29034423
25MP0009278_abnormal_bone_marrow2.25166324
26MP0005083_abnormal_biliary_tract2.18748691
27MP0005646_abnormal_pituitary_gland2.16619400
28MP0002734_abnormal_mechanical_nocicepti2.16006771
29MP0003122_maternal_imprinting2.11756327
30MP0001905_abnormal_dopamine_level2.09788782
31MP0004215_abnormal_myocardial_fiber2.02183269
32MP0002733_abnormal_thermal_nociception2.01522608
33MP0001501_abnormal_sleep_pattern1.98316320
34MP0001529_abnormal_vocalization1.92755570
35MP0001970_abnormal_pain_threshold1.90683675
36MP0002067_abnormal_sensory_capabilities1.88349746
37MP0002398_abnormal_bone_marrow1.88164591
38MP0002638_abnormal_pupillary_reflex1.84484005
39MP0001440_abnormal_grooming_behavior1.83383328
40MP0001486_abnormal_startle_reflex1.81056678
41MP0002184_abnormal_innervation1.79428307
42MP0001984_abnormal_olfaction1.78023941
43MP0004142_abnormal_muscle_tone1.77299310
44MP0002557_abnormal_social/conspecific_i1.71378886
45MP0001188_hyperpigmentation1.69636960
46MP0001502_abnormal_circadian_rhythm1.68088949
47MP0004147_increased_porphyrin_level1.66378254
48MP0001835_abnormal_antigen_presentation1.64341610
49MP0005075_abnormal_melanosome_morpholog1.63421033
50MP0002822_catalepsy1.62442244
51MP0005410_abnormal_fertilization1.62019577
52MP0004808_abnormal_hematopoietic_stem1.61357448
53MP0005058_abnormal_lysosome_morphology1.59945955
54MP0005645_abnormal_hypothalamus_physiol1.56816611
55MP0005423_abnormal_somatic_nervous1.56550276
56MP0003879_abnormal_hair_cell1.56072938
57MP0005451_abnormal_body_composition1.53696447
58MP0004145_abnormal_muscle_electrophysio1.52434168
59MP0002909_abnormal_adrenal_gland1.52236101
60MP0006292_abnormal_olfactory_placode1.52175642
61MP0008569_lethality_at_weaning1.45774998
62MP0003436_decreased_susceptibility_to1.44634287
63MP0000343_altered_response_to1.44133236
64MP0003806_abnormal_nucleotide_metabolis1.43017538
65MP0009333_abnormal_splenocyte_physiolog1.39626380
66MP0002722_abnormal_immune_system1.39382314
67MP0002429_abnormal_blood_cell1.39044565
68MP0006036_abnormal_mitochondrial_physio1.38179542
69MP0000689_abnormal_spleen_morphology1.37425277
70MP0000955_abnormal_spinal_cord1.37386616
71MP0010386_abnormal_urinary_bladder1.35828976
72MP0004085_abnormal_heartbeat1.35093760
73MP0004811_abnormal_neuron_physiology1.34252223
74MP0000230_abnormal_systemic_arterial1.32482549
75MP0000751_myopathy1.31496615
76MP0002148_abnormal_hypersensitivity_rea1.30632291
77MP0009765_abnormal_xenobiotic_induced1.30393995
78MP0009379_abnormal_foot_pigmentation1.30120908
79MP0003186_abnormal_redox_activity1.28940570
80MP0005000_abnormal_immune_tolerance1.27808266
81MP0004130_abnormal_muscle_cell1.26462758
82MP0003787_abnormal_imprinting1.26120627
83MP0001663_abnormal_digestive_system1.26036297
84MP0002876_abnormal_thyroid_physiology1.24852541
85MP0008775_abnormal_heart_ventricle1.24851168
86MP0009780_abnormal_chondrocyte_physiolo1.22174656
87MP0004924_abnormal_behavior1.21667690
88MP0005386_behavior/neurological_phenoty1.21667690
89MP0000013_abnormal_adipose_tissue1.21579051
90MP0000778_abnormal_nervous_system1.18883476
91MP0002066_abnormal_motor_capabilities/c1.18393195
92MP0000703_abnormal_thymus_morphology1.15611144
93MP0003646_muscle_fatigue1.15168020
94MP0004233_abnormal_muscle_weight1.14684541
95MP0002882_abnormal_neuron_morphology1.14453067
96MP0000716_abnormal_immune_system1.13000582
97MP0002723_abnormal_immune_serum1.12287279
98MP0008872_abnormal_physiological_respon1.12270258
99MP0002420_abnormal_adaptive_immunity1.12118040
100MP0001873_stomach_inflammation1.11381190
101MP0000678_abnormal_parathyroid_gland1.09759118
102MP0001819_abnormal_immune_cell1.09725425
103MP0003329_amyloid_beta_deposits1.09649637
104MP0005409_darkened_coat_color1.08545086
105MP0000749_muscle_degeneration1.05381464
106MP0003718_maternal_effect1.04552744
107MP0001800_abnormal_humoral_immune1.02950697
108MP0003638_abnormal_response/metabolism_1.02685989
109MP0000631_abnormal_neuroendocrine_gland1.02603407
110MP0006072_abnormal_retinal_apoptosis1.01693549
111MP0002234_abnormal_pharynx_morphology1.01575549
112MP0004036_abnormal_muscle_relaxation1.01261248
113MP0005084_abnormal_gallbladder_morpholo1.00979978
114MP0001986_abnormal_taste_sensitivity1.00056545
115MP0009763_increased_sensitivity_to0.99614594
116MP0000015_abnormal_ear_pigmentation0.98676235
117MP0005535_abnormal_body_temperature0.98599332
118MP0002419_abnormal_innate_immunity0.96927654
119MP0002751_abnormal_autonomic_nervous0.96037191
120MP0005025_abnormal_response_to0.95792165
121MP0003172_abnormal_lysosome_physiology0.95058280
122MP0008058_abnormal_DNA_repair0.94301829
123MP0005666_abnormal_adipose_tissue0.94121759
124MP0004858_abnormal_nervous_system0.93480437
125MP0009697_abnormal_copulation0.92524810
126MP0002452_abnormal_antigen_presenting0.92404821
127MP0003828_pulmonary_edema0.92210612
128MP0008877_abnormal_DNA_methylation0.92158016
129MP0003137_abnormal_impulse_conducting0.91904849
130MP0003866_abnormal_defecation0.90331261
131MP0003183_abnormal_peptide_metabolism0.90097641
132MP0002396_abnormal_hematopoietic_system0.89469728
133MP0010155_abnormal_intestine_physiology0.88566457
134MP0006035_abnormal_mitochondrial_morpho0.88249222
135MP0000681_abnormal_thyroid_gland0.87771000
136MP0003123_paternal_imprinting0.87008827
137MP0005174_abnormal_tail_pigmentation0.85614235
138MP0005551_abnormal_eye_electrophysiolog0.84321277
139MP0005381_digestive/alimentary_phenotyp0.84081026
140MP0005636_abnormal_mineral_homeostasis0.83863690
141MP0003633_abnormal_nervous_system0.82872055
142MP0004084_abnormal_cardiac_muscle0.82537323
143MP0003111_abnormal_nucleus_morphology0.82513422
144MP0002693_abnormal_pancreas_physiology0.81683728
145MP0003763_abnormal_thymus_physiology0.81645675
146MP0002019_abnormal_tumor_incidence0.81432337
147MP0004510_myositis0.81048288
148MP0005671_abnormal_response_to0.80953520
149MP0002229_neurodegeneration0.80934072
150MP0009642_abnormal_blood_homeostasis0.80179071
151MP0004484_altered_response_of0.79861538
152MP0008874_decreased_physiological_sensi0.79030951
153MP0009764_decreased_sensitivity_to0.77135871
154MP0002069_abnormal_eating/drinking_beha0.74588821
155MP0003698_abnormal_male_reproductive0.74482276
156MP0000372_irregular_coat_pigmentation0.74393281
157MP0004885_abnormal_endolymph0.74325714
158MP0000313_abnormal_cell_death0.74241146
159MP0003121_genomic_imprinting0.73957433
160MP0004043_abnormal_pH_regulation0.71326500
161MP0005394_taste/olfaction_phenotype0.71319090
162MP0005499_abnormal_olfactory_system0.71319090
163MP0002752_abnormal_somatic_nervous0.71098747
164MP0002152_abnormal_brain_morphology0.71022021
165MP0003631_nervous_system_phenotype0.69428725
166MP0005385_cardiovascular_system_phenoty0.68893630
167MP0001544_abnormal_cardiovascular_syste0.68893630
168MP0008995_early_reproductive_senescence0.67778864
169MP0003075_altered_response_to0.67273979
170MP0001765_abnormal_ion_homeostasis0.66120534
171MP0001963_abnormal_hearing_physiology0.65764084
172MP0003300_gastrointestinal_ulcer0.65662808
173MP0001845_abnormal_inflammatory_respons0.65137630
174MP0001664_abnormal_digestion0.64616343
175MP0001851_eye_inflammation0.64234752
176MP0002405_respiratory_system_inflammati0.63874709

Predicted human phenotypes

RankGene SetZ-score
1Petechiae (HP:0000967)8.02544746
2Increased mean platelet volume (HP:0011877)7.80082863
3Menorrhagia (HP:0000132)7.58352730
4Abnormal platelet volume (HP:0011876)7.56888531
5Purpura (HP:0000979)7.46346266
6Epistaxis (HP:0000421)6.21443979
7Abnormality of the heme biosynthetic pathway (HP:0010472)6.09179639
8Focal motor seizures (HP:0011153)5.67978431
9Myokymia (HP:0002411)5.65217850
10Acute necrotizing encephalopathy (HP:0006965)4.98739048
11Hyperthyroidism (HP:0000836)4.73231966
12Abnormal mitochondria in muscle tissue (HP:0008316)4.73018518
13Visual hallucinations (HP:0002367)4.60667594
14Gingival bleeding (HP:0000225)4.46013007
15Mitochondrial inheritance (HP:0001427)4.43168536
16Impaired platelet aggregation (HP:0003540)4.35436459
17Abnormal platelet function (HP:0011869)4.35436459
18Poikilocytosis (HP:0004447)4.31628755
19Progressive macrocephaly (HP:0004481)4.26516540
20Atonic seizures (HP:0010819)4.08973008
21Acute encephalopathy (HP:0006846)4.00137167
22Hepatocellular necrosis (HP:0001404)3.99400721
23Acanthocytosis (HP:0001927)3.84437415
24Increased CSF lactate (HP:0002490)3.75868760
25Neuroendocrine neoplasm (HP:0100634)3.74415278
26Febrile seizures (HP:0002373)3.72414996
27Epileptic encephalopathy (HP:0200134)3.62809581
28Progressive cerebellar ataxia (HP:0002073)3.56589015
29Hypothermia (HP:0002045)3.48518290
30Truncus arteriosus (HP:0001660)3.47480727
31Hepatic necrosis (HP:0002605)3.47383646
32Abnormality of lateral ventricle (HP:0030047)3.45680668
33Pheochromocytoma (HP:0002666)3.45430057
34Obstructive lung disease (HP:0006536)3.36373866
35Chronic obstructive pulmonary disease (HP:0006510)3.36373866
36Focal seizures (HP:0007359)3.21160675
37Lactic acidosis (HP:0003128)3.09711316
38Panhypogammaglobulinemia (HP:0003139)3.01792301
39Absence seizures (HP:0002121)3.01261148
40Paralysis (HP:0003470)2.97185192
41Optic disc pallor (HP:0000543)2.91995401
42Hyperlipoproteinemia (HP:0010980)2.91816746
43Increased hepatocellular lipid droplets (HP:0006565)2.89644820
44Hypertensive crisis (HP:0100735)2.86715678
45Lipid accumulation in hepatocytes (HP:0006561)2.83303063
46Renal Fanconi syndrome (HP:0001994)2.82293707
473-Methylglutaconic aciduria (HP:0003535)2.78379551
48Anxiety (HP:0000739)2.77388404
49Exercise intolerance (HP:0003546)2.73030132
50Spontaneous hematomas (HP:0007420)2.69798869
51Type II lissencephaly (HP:0007260)2.69010026
52Abnormality of iron homeostasis (HP:0011031)2.68148384
53Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.67094185
54Increased serum lactate (HP:0002151)2.65690033
55Poor suck (HP:0002033)2.61341602
56Retinal dysplasia (HP:0007973)2.60038332
57Dialeptic seizures (HP:0011146)2.59796791
58Seborrheic dermatitis (HP:0001051)2.58580473
59Increased intramyocellular lipid droplets (HP:0012240)2.54230585
60Ankle clonus (HP:0011448)2.53005577
61Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.49191221
62Dyschromatopsia (HP:0007641)2.47491122
63Abnormality of transition element cation homeostasis (HP:0011030)2.46467009
64Increased serum ferritin (HP:0003281)2.44897665
65Neoplasm of the peripheral nervous system (HP:0100007)2.44322486
66Cerebral edema (HP:0002181)2.42257812
67Decreased activity of mitochondrial respiratory chain (HP:0008972)2.42077026
68Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.42077026
69Abnormal hair whorl (HP:0010721)2.41859607
70Generalized tonic-clonic seizures (HP:0002069)2.41777926
71Reticulocytosis (HP:0001923)2.41760125
72Limb dystonia (HP:0002451)2.40973182
73Leukodystrophy (HP:0002415)2.38625328
74Respiratory failure (HP:0002878)2.36011198
75Bruising susceptibility (HP:0000978)2.35598527
76Abnormal pupillary function (HP:0007686)2.33885597
77Gait imbalance (HP:0002141)2.32352172
78Unsteady gait (HP:0002317)2.31675194
79Abnormal number of erythroid precursors (HP:0012131)2.31016294
80Increased muscle lipid content (HP:0009058)2.30631729
81Male infertility (HP:0003251)2.29575722
82Microvesicular hepatic steatosis (HP:0001414)2.29163705
83Abnormality of cells of the erythroid lineage (HP:0012130)2.27517102
84Increased IgM level (HP:0003496)2.25825197
85Medial flaring of the eyebrow (HP:0010747)2.24223668
86Depression (HP:0000716)2.22561704
87Truncal ataxia (HP:0002078)2.21654108
88Encephalitis (HP:0002383)2.21416558
89Thrombocytosis (HP:0001894)2.20358262
90Congenital primary aphakia (HP:0007707)2.16290396
91Emotional lability (HP:0000712)2.16289387
92Acute lymphatic leukemia (HP:0006721)2.13341500
93Respiratory difficulties (HP:0002880)2.12354851
94Nephrogenic diabetes insipidus (HP:0009806)2.11435565
95Pallor (HP:0000980)2.11186683
96Absent/shortened dynein arms (HP:0200106)2.10295653
97Dynein arm defect of respiratory motile cilia (HP:0012255)2.10295653
98Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.09497604
99Abnormality of alanine metabolism (HP:0010916)2.09497604
100Hyperalaninemia (HP:0003348)2.09497604
101Hyperventilation (HP:0002883)2.08865381
102Decreased central vision (HP:0007663)2.05506742
103Ventricular fibrillation (HP:0001663)2.05463463
104Abnormality of the lower motor neuron (HP:0002366)2.05364377
105Hepatosplenomegaly (HP:0001433)2.04191753
106Recurrent bacterial skin infections (HP:0005406)2.03873020
107Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.01011271
108Atelectasis (HP:0100750)2.00782975
109Prolonged bleeding time (HP:0003010)10.1132023
110Generalized aminoaciduria (HP:0002909)1.98509006
111Myotonia (HP:0002486)1.98236496
112Recurrent abscess formation (HP:0002722)1.96858343
113Abnormality of reticulocytes (HP:0004312)1.96824643
114Stomatitis (HP:0010280)1.96086589
115Abnormality of the tricuspid valve (HP:0001702)1.94992074
116Progressive inability to walk (HP:0002505)1.93540510
117Hypoparathyroidism (HP:0000829)1.93464689
118Abnormal large intestine physiology (HP:0012700)1.92989644
119Polycythemia (HP:0001901)1.91247263
120Abnormal EKG (HP:0003115)1.89569493
121Abnormality of renal resorption (HP:0011038)1.88474167
122Abnormal delayed hypersensitivity skin test (HP:0002963)1.88400395
123Abnormality of T cell physiology (HP:0011840)1.87683772
124Aplastic anemia (HP:0001915)1.87207110
125Poor eye contact (HP:0000817)1.86797430
126Agitation (HP:0000713)1.86726607
127Gastrointestinal inflammation (HP:0004386)1.86353167
128Muscular hypotonia of the trunk (HP:0008936)1.86042890
129Neoplasm of the adrenal gland (HP:0100631)1.85839771
130Agammaglobulinemia (HP:0004432)1.85815674
131Focal dystonia (HP:0004373)1.85812444
132Psychosis (HP:0000709)1.85709900
133Delusions (HP:0000746)1.83317556
134Abnormality of the prostate (HP:0008775)1.83152863
135Abnormality of glycolysis (HP:0004366)1.80788299
136Increased serum pyruvate (HP:0003542)1.80788299
137Muscle hypertrophy of the lower extremities (HP:0008968)1.80787165
138Acute hepatic failure (HP:0006554)1.80604674
139Prolonged QT interval (HP:0001657)1.79956060
140Recurrent viral infections (HP:0004429)1.79894234
141Calf muscle hypertrophy (HP:0008981)1.79366755
142Epileptiform EEG discharges (HP:0011182)1.78427107
143Exertional dyspnea (HP:0002875)1.78356328
144Absent rod-and cone-mediated responses on ERG (HP:0007688)1.77814425
145Palpitations (HP:0001962)1.77337002
146Tinnitus (HP:0000360)1.77006995
147Nausea (HP:0002018)1.76513799
148Spontaneous abortion (HP:0005268)1.76234969
149Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.75073611
150Aplasia/Hypoplasia of the thymus (HP:0010515)1.74777650
151Cerebral palsy (HP:0100021)1.73732245
152Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.73582437
153Abnormal gallbladder physiology (HP:0012438)1.73500335
154Cholecystitis (HP:0001082)1.73500335
155Abnormal rod and cone electroretinograms (HP:0008323)1.73075234
156EEG with generalized epileptiform discharges (HP:0011198)1.73061320
157Cholelithiasis (HP:0001081)1.72079511
158Failure to thrive in infancy (HP:0001531)1.71636700
159Progressive microcephaly (HP:0000253)1.71200777
160Hypoplasia of the brainstem (HP:0002365)1.70899710
161Aplasia/Hypoplasia of the brainstem (HP:0007362)1.70899710
162Ketoacidosis (HP:0001993)1.70752878
163Lissencephaly (HP:0001339)1.70638732
164Delayed gross motor development (HP:0002194)1.70183025
165Inflammation of the large intestine (HP:0002037)1.69614488
166Abnormal hemoglobin (HP:0011902)1.69099904
167Poor speech (HP:0002465)1.68359689
168Bowel incontinence (HP:0002607)1.68211579
169Increased density of long bones (HP:0006392)1.68005195
170Autoimmune hemolytic anemia (HP:0001890)1.67930907
171Broad-based gait (HP:0002136)1.67391525
172Polyphagia (HP:0002591)1.67351420
173Abnormal respiratory epithelium morphology (HP:0012253)1.67322101
174Progressive muscle weakness (HP:0003323)1.67204472
175Hypochromic microcytic anemia (HP:0004840)1.64812781
176Elevated erythrocyte sedimentation rate (HP:0003565)1.63635663
177Exercise-induced myalgia (HP:0003738)1.62376958
178Muscle fiber atrophy (HP:0100295)1.62309023
179Microcytic anemia (HP:0001935)1.60181977
180Chest pain (HP:0100749)1.59957392
181Aplasia/Hypoplasia of the earlobes (HP:0009906)1.59066273
182Abnormality of fatty-acid metabolism (HP:0004359)1.57948235
183Conjunctival telangiectasia (HP:0000524)1.57252391

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.33468210
2MAP2K73.44164900
3EPHA43.43384249
4EIF2AK13.28405652
5BMX2.90423823
6NME22.88210527
7CDK192.74979273
8MAP3K122.65682974
9BTK2.62464632
10TNIK2.51072270
11VRK22.48973268
12TEC2.46704515
13ARAF2.46550626
14MAP3K42.46272180
15MINK12.46147862
16MAP3K92.39414580
17MAP2K32.37239731
18CASK2.35465153
19TAOK32.21294953
20MAP3K112.18868722
21GRK62.08162200
22MAPK131.73230289
23MARK11.71207404
24MUSK1.69114313
25GRK51.68279357
26TAOK21.66674307
27PRKD31.63082270
28MAP2K41.61719073
29MATK1.60958008
30SMG11.60175030
31DYRK31.56854580
32FES1.54755418
33STK161.52841459
34SIK31.52316623
35UHMK11.52130529
36DAPK11.46076615
37TESK21.45843896
38CAMKK21.40973441
39NUAK11.40020994
40TLK11.39983948
41PIK3CG1.39872035
42MAP4K11.32638867
43CAMKK11.32213032
44MAP3K61.32040026
45NTRK21.26656898
46NME11.23386075
47PASK1.19817173
48CAMK11.19480006
49PDK41.18676329
50PDK31.18676329
51HCK1.18034887
52KSR11.17215902
53CDC71.15973746
54MAPK121.15805594
55CSF1R1.15459951
56IKBKB1.14656905
57WNK41.13068017
58MST41.12560801
59MAP3K131.12175745
60CDK51.10185134
61MYLK1.09691611
62BRAF1.08367492
63MAPKAPK51.07339311
64TESK11.07035987
65CAMK2B1.05374274
66PRKCG1.05161333
67LYN1.04416822
68CDK81.04083124
69BCKDK1.03992404
70CAMK2D1.03169982
71ZAP701.02374569
72DYRK21.01548098
73ILK1.01392373
74IRAK30.99704697
75GRK70.98536538
76PLK20.97447661
77TAOK10.96050183
78PTK2B0.95016343
79MAP3K10.94212623
80CAMK2A0.93371074
81DAPK20.93270859
82ITK0.93193743
83RIPK40.92885606
84PINK10.92601141
85PHKG10.90715295
86PHKG20.90715295
87TNK20.89493961
88TAF10.84586230
89KDR0.84397191
90CDK180.83821543
91PIM20.81032618
92CCNB10.80392878
93MAP2K60.80167922
94PRPF4B0.79879827
95NTRK10.78060292
96LIMK10.78019000
97CDK11A0.76925117
98CDK150.76034593
99KSR20.74778173
100CSNK1G30.74196751
101JAK30.73815046
102PAK60.73757997
103PAK10.73145242
104CDK140.73144037
105MAPK110.72929403
106INSRR0.72242195
107CAMK2G0.70603048
108IRAK40.70344278
109MAP4K20.68331212
110STK40.66693517
111MAP3K50.65301048
112SYK0.64665536
113ADRBK20.64323092
114BMPR1B0.63133946
115PRKD20.63089467
116LMTK20.62029745
117CSNK1G20.60676184
118PRKCQ0.60234564
119PRKCE0.59952565
120RAF10.59140190
121HIPK20.58638289
122SGK2230.57737412
123SGK4940.57737412
124IRAK20.57517576
125BLK0.57431860
126DYRK1B0.57256270
127PKN10.57062012
128DYRK1A0.56933088
129FLT30.55440581
130BMPR20.55024815
131SIK20.54725969
132BRSK10.54343014
133PDPK10.54002025
134MOS0.53596744
135PDK10.52636787
136AURKA0.52376333
137PIM10.51452354
138FER0.49335046
139MAPK150.48629090
140LCK0.48358990
141MARK30.48180339
142WNK30.47639847
143NEK10.46023598
144ADRBK10.45183176
145CAMK40.43525640
146LRRK20.42727456
147OBSCN0.42421318
148MARK20.41445529
149PRKCH0.41415228
150ZAK0.41333584
151RPS6KB10.40223887
152PRKACA0.39836808
153DAPK30.38549332
154CDK90.37984294
155PRKACB0.37932777
156ERBB30.37847173
157TBK10.37489815
158ABL20.37125076
159VRK10.36841948
160TYK20.36792829
161MAP2K20.36615799
162RPS6KA50.36510149
163TXK0.36452718
164MAPK40.36297051
165CHEK20.35464247
166MAPKAPK30.34979354
167KIT0.34911156
168AKT20.34468161
169SCYL20.32826762
170OXSR10.32678377

Predicted pathways (KEGG)

RankGene SetZ-score
1Platelet activation_Homo sapiens_hsa046115.16300623
2Oxidative phosphorylation_Homo sapiens_hsa001904.29345163
3Parkinsons disease_Homo sapiens_hsa050123.87951405
4Synaptic vesicle cycle_Homo sapiens_hsa047213.53246469
5* Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007603.44828740
6Nicotine addiction_Homo sapiens_hsa050332.99341992
7Alzheimers disease_Homo sapiens_hsa050102.96829775
8Huntingtons disease_Homo sapiens_hsa050162.68097478
9Cardiac muscle contraction_Homo sapiens_hsa042602.55192711
10Hematopoietic cell lineage_Homo sapiens_hsa046402.52030981
11Circadian entrainment_Homo sapiens_hsa047132.42459831
12Collecting duct acid secretion_Homo sapiens_hsa049662.42257628
13Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.37409400
14Long-term potentiation_Homo sapiens_hsa047202.35926166
15GABAergic synapse_Homo sapiens_hsa047272.32666603
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.29183280
17Base excision repair_Homo sapiens_hsa034102.21704066
18Arachidonic acid metabolism_Homo sapiens_hsa005902.19413433
19Amphetamine addiction_Homo sapiens_hsa050312.19229276
20Protein export_Homo sapiens_hsa030602.02487738
21Insulin secretion_Homo sapiens_hsa049112.02365115
22Morphine addiction_Homo sapiens_hsa050322.00710328
23Mismatch repair_Homo sapiens_hsa034301.95731867
24Vibrio cholerae infection_Homo sapiens_hsa051101.93075842
25B cell receptor signaling pathway_Homo sapiens_hsa046621.92509512
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.90909064
27Glutamatergic synapse_Homo sapiens_hsa047241.89486098
28Olfactory transduction_Homo sapiens_hsa047401.88866150
29Dopaminergic synapse_Homo sapiens_hsa047281.86457501
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.81589168
31Serotonergic synapse_Homo sapiens_hsa047261.68798897
32Taste transduction_Homo sapiens_hsa047421.66119507
33Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.62602373
34Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.59406589
35Pentose phosphate pathway_Homo sapiens_hsa000301.55097531
36Primary immunodeficiency_Homo sapiens_hsa053401.54560690
37Glutathione metabolism_Homo sapiens_hsa004801.51223704
38DNA replication_Homo sapiens_hsa030301.50956453
39Cholinergic synapse_Homo sapiens_hsa047251.48720844
40Aldosterone synthesis and secretion_Homo sapiens_hsa049251.46842536
41Systemic lupus erythematosus_Homo sapiens_hsa053221.40643000
42Calcium signaling pathway_Homo sapiens_hsa040201.40285686
43Nitrogen metabolism_Homo sapiens_hsa009101.39034333
44Salivary secretion_Homo sapiens_hsa049701.37973640
45Proteasome_Homo sapiens_hsa030501.37679457
46Non-small cell lung cancer_Homo sapiens_hsa052231.33585188
47Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.32701270
48Cocaine addiction_Homo sapiens_hsa050301.27804063
49SNARE interactions in vesicular transport_Homo sapiens_hsa041301.25683671
50Glycerophospholipid metabolism_Homo sapiens_hsa005641.25444746
51Asthma_Homo sapiens_hsa053101.24813424
52Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.23324453
53Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.22594497
54Long-term depression_Homo sapiens_hsa047301.19516903
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.19415542
56Ribosome_Homo sapiens_hsa030101.14042891
57Maturity onset diabetes of the young_Homo sapiens_hsa049501.13405027
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.11950834
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.10259110
60Chemokine signaling pathway_Homo sapiens_hsa040621.08311465
61Oxytocin signaling pathway_Homo sapiens_hsa049211.07617968
62Pancreatic cancer_Homo sapiens_hsa052121.05864129
63Acute myeloid leukemia_Homo sapiens_hsa052211.05826364
64Inositol phosphate metabolism_Homo sapiens_hsa005621.03920082
65Gastric acid secretion_Homo sapiens_hsa049711.03468026
66Pyruvate metabolism_Homo sapiens_hsa006201.02366466
67Notch signaling pathway_Homo sapiens_hsa043300.99763552
68Renin secretion_Homo sapiens_hsa049240.95448528
69Transcriptional misregulation in cancer_Homo sapiens_hsa052020.93996868
70Homologous recombination_Homo sapiens_hsa034400.93919397
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.90486660
72cAMP signaling pathway_Homo sapiens_hsa040240.89042277
73Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.88595217
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.79906691
75Endocytosis_Homo sapiens_hsa041440.79203176
76Fanconi anemia pathway_Homo sapiens_hsa034600.77566945
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.77157234
78Oocyte meiosis_Homo sapiens_hsa041140.75114286
79Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.73470162
80Cysteine and methionine metabolism_Homo sapiens_hsa002700.73329335
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72117805
82GnRH signaling pathway_Homo sapiens_hsa049120.70729927
83Gap junction_Homo sapiens_hsa045400.70599214
84Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70226533
85Melanogenesis_Homo sapiens_hsa049160.69105551
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.66274135
87Glucagon signaling pathway_Homo sapiens_hsa049220.65319067
88N-Glycan biosynthesis_Homo sapiens_hsa005100.62572372
89Dilated cardiomyopathy_Homo sapiens_hsa054140.62266114
90cGMP-PKG signaling pathway_Homo sapiens_hsa040220.61240732
91Thyroid hormone synthesis_Homo sapiens_hsa049180.61226790
92Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.61169723
93T cell receptor signaling pathway_Homo sapiens_hsa046600.61119481
94Chronic myeloid leukemia_Homo sapiens_hsa052200.60873727
95Peroxisome_Homo sapiens_hsa041460.59874262
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.59771907
97Fatty acid elongation_Homo sapiens_hsa000620.59448859
98Pancreatic secretion_Homo sapiens_hsa049720.58827952
99Osteoclast differentiation_Homo sapiens_hsa043800.57545446
100Circadian rhythm_Homo sapiens_hsa047100.57363224
101Alcoholism_Homo sapiens_hsa050340.56721203
102Phospholipase D signaling pathway_Homo sapiens_hsa040720.56317748
103Sulfur metabolism_Homo sapiens_hsa009200.55747192
104Malaria_Homo sapiens_hsa051440.55211730
105Propanoate metabolism_Homo sapiens_hsa006400.55123474
106Leishmaniasis_Homo sapiens_hsa051400.54746002
107Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53996434
108* Purine metabolism_Homo sapiens_hsa002300.53964743
109Estrogen signaling pathway_Homo sapiens_hsa049150.53883437
110Viral carcinogenesis_Homo sapiens_hsa052030.51646012
111Shigellosis_Homo sapiens_hsa051310.50866285
112Glycerolipid metabolism_Homo sapiens_hsa005610.48150495
113Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.47745300
114Nucleotide excision repair_Homo sapiens_hsa034200.47422026
115Herpes simplex infection_Homo sapiens_hsa051680.45268556
116Phototransduction_Homo sapiens_hsa047440.44137467
117Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43944215
118Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.43282216
119VEGF signaling pathway_Homo sapiens_hsa043700.42997400
120beta-Alanine metabolism_Homo sapiens_hsa004100.39263561
121ECM-receptor interaction_Homo sapiens_hsa045120.39255403
122One carbon pool by folate_Homo sapiens_hsa006700.38598591
1232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.38554078
124Type II diabetes mellitus_Homo sapiens_hsa049300.38230631
125Carbon metabolism_Homo sapiens_hsa012000.37749759
126* Metabolic pathways_Homo sapiens_hsa011000.36920816
127Fructose and mannose metabolism_Homo sapiens_hsa000510.36419560
128Choline metabolism in cancer_Homo sapiens_hsa052310.36250839
129Toll-like receptor signaling pathway_Homo sapiens_hsa046200.35191537
130Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.34083759
131* Pyrimidine metabolism_Homo sapiens_hsa002400.33408086
132RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.32907150
133Renin-angiotensin system_Homo sapiens_hsa046140.31351474
134Biosynthesis of amino acids_Homo sapiens_hsa012300.30932354
135Linoleic acid metabolism_Homo sapiens_hsa005910.30259786
136Sulfur relay system_Homo sapiens_hsa041220.29993685
137Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29207649
138Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.29022113
139Axon guidance_Homo sapiens_hsa043600.28812812
140Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.28654514
141Phagosome_Homo sapiens_hsa041450.28522713
142Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.28102544
143RNA polymerase_Homo sapiens_hsa030200.27354131
144Rheumatoid arthritis_Homo sapiens_hsa053230.26167091
145Adipocytokine signaling pathway_Homo sapiens_hsa049200.25997129
146Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.19699350
147Type I diabetes mellitus_Homo sapiens_hsa049400.19516896
148Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19211500
149Phosphatidylinositol signaling system_Homo sapiens_hsa040700.18445793
150Cyanoamino acid metabolism_Homo sapiens_hsa004600.18182464
151Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.18145266
152Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.17904366
153Glioma_Homo sapiens_hsa052140.17818673
154Regulation of autophagy_Homo sapiens_hsa041400.16085010
155Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.16074494
156Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.15143316
157Neurotrophin signaling pathway_Homo sapiens_hsa047220.12956181
158Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.12827013

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