GUK1

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





Description: The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)4.98919329
2Golgi transport vesicle coating (GO:0048200)4.98919329
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.91952045
4DNA deamination (GO:0045006)4.61712316
5protein maturation by protein folding (GO:0022417)4.61045036
6ATP synthesis coupled proton transport (GO:0015986)4.51648208
7energy coupled proton transport, down electrochemical gradient (GO:0015985)4.51648208
8regulation of mitochondrial translation (GO:0070129)4.45903859
9cullin deneddylation (GO:0010388)4.18408275
10proteasome assembly (GO:0043248)4.18278221
11protein deneddylation (GO:0000338)4.10547107
12negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.02450121
13negative regulation of cell killing (GO:0031342)4.02450121
14mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.01496157
15oxidative phosphorylation (GO:0006119)3.94786422
16regulation of rhodopsin mediated signaling pathway (GO:0022400)3.93559919
17rhodopsin mediated signaling pathway (GO:0016056)3.90689520
18antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.88348057
19antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.76885617
20respiratory electron transport chain (GO:0022904)3.76135647
21protein complex biogenesis (GO:0070271)3.71164738
22response to pheromone (GO:0019236)3.70784153
23electron transport chain (GO:0022900)3.69438218
24L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.65529638
25chaperone-mediated protein transport (GO:0072321)3.64289294
26mitochondrial respiratory chain complex assembly (GO:0033108)3.62803227
27oxygen transport (GO:0015671)3.62180149
28* GDP-mannose metabolic process (GO:0019673)3.62052271
29negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.61349627
30maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.57909012
31regulation of cellular amino acid metabolic process (GO:0006521)3.57787962
32negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.57594802
33antigen processing and presentation of endogenous antigen (GO:0019883)3.55544126
34protein targeting to mitochondrion (GO:0006626)3.47927716
35establishment of protein localization to mitochondrion (GO:0072655)3.46370060
36formation of translation preinitiation complex (GO:0001731)3.44421689
37detection of bacterium (GO:0016045)3.43300364
38* GMP metabolic process (GO:0046037)3.41868267
39antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.41468469
40protein retention in ER lumen (GO:0006621)3.39473894
41regulation of oxidative phosphorylation (GO:0002082)3.36544480
42positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.32560539
43detection of other organism (GO:0098543)3.32103209
44signal peptide processing (GO:0006465)3.30411243
45peptidyl-histidine modification (GO:0018202)3.29762146
46mitochondrial respiratory chain complex I assembly (GO:0032981)3.25358106
47NADH dehydrogenase complex assembly (GO:0010257)3.25358106
48mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.25358106
49ribonucleoprotein complex disassembly (GO:0032988)3.24347493
50transcription elongation from RNA polymerase III promoter (GO:0006385)3.20901688
51termination of RNA polymerase III transcription (GO:0006386)3.20901688
52protein localization to mitochondrion (GO:0070585)3.19953327
53gas transport (GO:0015669)3.19344806
54negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.19082491
55negative regulation of ligase activity (GO:0051352)3.19082491
56establishment of protein localization to mitochondrial membrane (GO:0090151)3.17275801
57neutrophil activation involved in immune response (GO:0002283)3.16243435
58inner mitochondrial membrane organization (GO:0007007)3.15923972
59* guanosine-containing compound biosynthetic process (GO:1901070)3.15460307
60retinal cone cell development (GO:0046549)3.14771472
61regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.14073211
62regulation of defense response to virus by virus (GO:0050690)3.13663035
63antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.12798066
64metallo-sulfur cluster assembly (GO:0031163)3.11201365
65iron-sulfur cluster assembly (GO:0016226)3.11201365
66viral protein processing (GO:0019082)3.08640269
67ribosomal small subunit assembly (GO:0000028)3.07154702
68DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.05138404
69NIK/NF-kappaB signaling (GO:0038061)3.03785887
70negative regulation of erythrocyte differentiation (GO:0045647)3.03708912
71positive regulation by symbiont of host defense response (GO:0052509)3.00266126
72modulation by symbiont of host defense response (GO:0052031)3.00266126
73modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.00266126
74modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.00266126
75positive regulation by organism of defense response of other organism involved in symbiotic interact3.00266126
76modulation by symbiont of host immune response (GO:0052553)3.00266126
77signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.00134611
78signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.00134611
79signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.00134611
80negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.00015902
81anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.99848474
82intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.99572010
83signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.99572010
84Arp2/3 complex-mediated actin nucleation (GO:0034314)2.98813079
85regulation of cellular amine metabolic process (GO:0033238)2.97889231
86detection of light stimulus involved in visual perception (GO:0050908)2.97678382
87detection of light stimulus involved in sensory perception (GO:0050962)2.97678382
887-methylguanosine mRNA capping (GO:0006370)2.96629774
89purine nucleobase biosynthetic process (GO:0009113)2.95446054
90GTP biosynthetic process (GO:0006183)2.94815431
91positive regulation of gamma-delta T cell activation (GO:0046645)2.94465455
92respiratory chain complex IV assembly (GO:0008535)2.94111698
93de novo protein folding (GO:0006458)2.93139080
94modulation by virus of host process (GO:0019054)2.91082139
95synaptic vesicle exocytosis (GO:0016079)2.90665496
96translation (GO:0006412)2.90597001
97retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.90397749
98signal transduction involved in DNA damage checkpoint (GO:0072422)2.89683819
99signal transduction involved in DNA integrity checkpoint (GO:0072401)2.89683819
100positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.89012097
101leukocyte aggregation (GO:0070486)2.87888085
102positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.87615714
103antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.86088482
104positive thymic T cell selection (GO:0045059)2.86020784
105amino acid salvage (GO:0043102)2.86016567
106L-methionine salvage (GO:0071267)2.86016567
107L-methionine biosynthetic process (GO:0071265)2.86016567
1087-methylguanosine RNA capping (GO:0009452)2.85369678
109RNA capping (GO:0036260)2.85369678
110tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.84226867
111RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.84226867
112signal transduction involved in cell cycle checkpoint (GO:0072395)2.84129592
113cytochrome complex assembly (GO:0017004)2.83229141
114CTP biosynthetic process (GO:0006241)2.82229587
115CTP metabolic process (GO:0046036)2.82229587
116SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.81719046
117de novo posttranslational protein folding (GO:0051084)2.77827605
118virion assembly (GO:0019068)2.77462200
119organelle disassembly (GO:1903008)2.76820640
120pseudouridine synthesis (GO:0001522)2.76726722
121barbed-end actin filament capping (GO:0051016)2.76682663
122UTP biosynthetic process (GO:0006228)2.75214597
123misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.74948255
124cotranslational protein targeting to membrane (GO:0006613)2.74176884
125regulation of necrotic cell death (GO:0010939)2.74172566
126positive regulation of ligase activity (GO:0051351)2.73806388
127modulation by symbiont of host cellular process (GO:0044068)2.72790774
128protein targeting to ER (GO:0045047)2.72633317
129pteridine-containing compound biosynthetic process (GO:0042559)2.70988903
130photoreceptor cell development (GO:0042461)2.70713601
131purine nucleoside triphosphate biosynthetic process (GO:0009145)2.69895165
132protoporphyrinogen IX metabolic process (GO:0046501)2.69856408
133protein localization to endosome (GO:0036010)2.69370372
134purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.69258173
135nucleobase biosynthetic process (GO:0046112)2.68880673
136pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.68694698
137macrophage activation involved in immune response (GO:0002281)2.67359059
138response to peptidoglycan (GO:0032494)2.63390260
139signal complex assembly (GO:0007172)2.58361850
140negative regulation of necroptotic process (GO:0060546)2.57917761
141detection of external biotic stimulus (GO:0098581)2.57655421
142respiratory burst (GO:0045730)2.56302454
143positive regulation of Cdc42 GTPase activity (GO:0043089)2.53956326
144type I interferon signaling pathway (GO:0060337)2.53481412
145cellular response to type I interferon (GO:0071357)2.53481412
146phagosome maturation (GO:0090382)2.51375845
147hemoglobin metabolic process (GO:0020027)2.50344653
148heme biosynthetic process (GO:0006783)2.50078190
149response to type I interferon (GO:0034340)2.50065230
150negative regulation of necrotic cell death (GO:0060547)2.49257645
151mannose metabolic process (GO:0006013)2.47070558
152negative regulation of leukocyte mediated immunity (GO:0002704)2.45064336
153thymic T cell selection (GO:0045061)2.41699318
154synaptic vesicle maturation (GO:0016188)2.41568710
155protoporphyrinogen IX biosynthetic process (GO:0006782)2.41339569
156regulation of myeloid leukocyte mediated immunity (GO:0002886)2.40810426
157protein targeting to plasma membrane (GO:0072661)2.39074061
158regulation of mast cell degranulation (GO:0043304)2.38923198
159regulation of necroptotic process (GO:0060544)2.38877908
160amino sugar catabolic process (GO:0046348)2.38260170
161regulation of regulated secretory pathway (GO:1903305)2.37978667
162negative regulation of interleukin-12 production (GO:0032695)2.37786214
163regulation of B cell receptor signaling pathway (GO:0050855)2.37686159
164regulation of leukocyte degranulation (GO:0043300)2.35527047
165regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.32077355
166actin nucleation (GO:0045010)2.31941278
167immunoglobulin mediated immune response (GO:0016064)2.30868990
168positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.30338222
169granulocyte activation (GO:0036230)2.28437706
170actin filament polymerization (GO:0030041)2.27217404
171negative regulation of lymphocyte mediated immunity (GO:0002707)2.26670989
172mature B cell differentiation involved in immune response (GO:0002313)2.26654897
173pyrimidine-containing compound salvage (GO:0008655)2.26541089
174pyrimidine nucleoside salvage (GO:0043097)2.26541089
175negative regulation of glial cell proliferation (GO:0060253)2.25800465
176positive regulation of receptor recycling (GO:0001921)2.25211696
177cellular response to virus (GO:0098586)2.25029554
178neutrophil activation (GO:0042119)2.24139672
179positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.22664884
180lipopolysaccharide-mediated signaling pathway (GO:0031663)2.21310968
181regulation of ARF protein signal transduction (GO:0032012)2.21246708
182heme metabolic process (GO:0042168)2.20247461
183glutamate secretion (GO:0014047)2.19791942
184regulation of amyloid precursor protein catabolic process (GO:1902991)2.19390535
185endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.18313644
186response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.17192825
187response to host immune response (GO:0052572)2.17192825
188regulation of interferon-beta biosynthetic process (GO:0045357)2.17064394
189negative regulation of stress fiber assembly (GO:0051497)2.16456045
190positive T cell selection (GO:0043368)2.15805172
191negative regulation of glycoprotein biosynthetic process (GO:0010561)2.15145145
192negative regulation of innate immune response (GO:0045824)2.14706969
193positive regulation of protein dephosphorylation (GO:0035307)2.14573305
194detection of biotic stimulus (GO:0009595)2.14235433

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.47041952
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.17330368
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.13550328
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.08700917
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.01455811
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.80331133
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.77570697
8HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.61197528
9EST1_17652178_ChIP-ChIP_JURKAT_Human3.51720467
10CREB1_15753290_ChIP-ChIP_HEK293T_Human3.22120137
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.12104886
12THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.09688267
13* PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.99809888
14LXR_22292898_ChIP-Seq_THP-1_Human2.84887645
15THAP11_20581084_ChIP-Seq_MESCs_Mouse2.77099058
16BP1_19119308_ChIP-ChIP_Hs578T_Human2.74096927
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.69038405
18VDR_21846776_ChIP-Seq_THP-1_Human2.67052793
19GABP_19822575_ChIP-Seq_HepG2_Human2.46299519
20* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.44593548
21E2F1_18555785_ChIP-Seq_MESCs_Mouse2.43506649
22VDR_23849224_ChIP-Seq_CD4+_Human2.37183686
23YY1_21170310_ChIP-Seq_MESCs_Mouse2.36101432
24* ELK3_25401928_ChIP-Seq_HUVEC_Human2.36054617
25SRF_21415370_ChIP-Seq_HL-1_Mouse2.35996871
26RARG_19884340_ChIP-ChIP_MEFs_Mouse2.34556512
27MYC_19079543_ChIP-ChIP_MESCs_Mouse2.30861147
28NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.27986673
29ELF1_17652178_ChIP-ChIP_JURKAT_Human2.25027825
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.24543628
31DCP1A_22483619_ChIP-Seq_HELA_Human2.22924400
32* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.19530082
33XRN2_22483619_ChIP-Seq_HELA_Human2.19261646
34PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.07240966
35SIN3A_21632747_ChIP-Seq_MESCs_Mouse2.06464002
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.03087879
37RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.00816344
38* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.95586602
39NELFA_20434984_ChIP-Seq_ESCs_Mouse1.95431009
40RACK7_27058665_Chip-Seq_MCF-7_Human1.95212535
41ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.94020551
42TP63_17297297_ChIP-ChIP_HaCaT_Human1.92396512
43* KDM2B_26808549_Chip-Seq_DND41_Human1.91756485
44FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.87532748
45ZFX_18555785_ChIP-Seq_MESCs_Mouse1.87317095
46FOXP3_21729870_ChIP-Seq_TREG_Human1.85439873
47* DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.83517256
48ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.81429199
49P68_20966046_ChIP-Seq_HELA_Human1.78691478
50TTF2_22483619_ChIP-Seq_HELA_Human1.77986244
51CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.70623323
52CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.70472515
53IRF8_22096565_ChIP-ChIP_GC-B_Human1.70335316
54CTCF_27219007_Chip-Seq_ERYTHROID_Human1.70010098
55MYC_22102868_ChIP-Seq_BL_Human1.69296788
56* SA1_27219007_Chip-Seq_ERYTHROID_Human1.69010304
57VDR_24763502_ChIP-Seq_THP-1_Human1.68948874
58* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.68918237
59MAF_26560356_Chip-Seq_TH1_Human1.68861555
60CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.68713726
61* BCL6_27268052_Chip-Seq_Bcells_Human1.68410682
62MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.67872625
63MAF_26560356_Chip-Seq_TH2_Human1.67838640
64SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.65643314
65* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.62833454
66* TCF7_22412390_ChIP-Seq_EML_Mouse1.61070359
67* UTX_26944678_Chip-Seq_JUKART_Human1.60705569
68BCOR_27268052_Chip-Seq_Bcells_Human1.57487329
69TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.55720282
70MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.55201770
71NANOG_18555785_ChIP-Seq_MESCs_Mouse1.53583186
72BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.53258155
73YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.52746521
74FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52649703
75* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.52388146
76CTCF_18555785_ChIP-Seq_MESCs_Mouse1.52271878
77SMC4_20622854_ChIP-Seq_HELA_Human1.51526582
78MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.50079399
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.49936620
80DNAJC2_21179169_ChIP-ChIP_NT2_Human1.48792606
81KDM2B_26808549_Chip-Seq_K562_Human1.47736513
82POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.46987504
83E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.45637728
84RUNX1_22412390_ChIP-Seq_EML_Mouse1.44885734
85EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44111039
86TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.42685480
87UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.41592679
88* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.39953074
89SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39870290
90CIITA_25753668_ChIP-Seq_RAJI_Human1.39365241
91SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.38986174
92YY1_22570637_ChIP-Seq_MALME-3M_Human1.37798272
93PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.36571277
94GATA1_19941827_ChIP-Seq_MEL_Mouse1.35899121
95STAT4_19710469_ChIP-ChIP_TH1__Mouse1.33230933
96TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.32618355
97ERG_21242973_ChIP-ChIP_JURKAT_Human1.31886951
98ERG_20887958_ChIP-Seq_HPC-7_Mouse1.30881383
99GATA1_22383799_ChIP-Seq_G1ME_Mouse1.28946686
100SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.27953707
101TBX5_21415370_ChIP-Seq_HL-1_Mouse1.27796185
102SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.27061440
103* SA1_27219007_Chip-Seq_Bcells_Human1.27036934
104SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.25690581
105ELK1_22589737_ChIP-Seq_MCF10A_Human1.25480332
106NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.25357509
107PU.1_20513432_ChIP-Seq_Bcells_Mouse1.24712439
108KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.24583960
109BRD4_27068464_Chip-Seq_AML-cells_Mouse1.24250939
110SRY_22984422_ChIP-ChIP_TESTIS_Rat1.23668911
111ZFP281_18757296_ChIP-ChIP_E14_Mouse1.23492558
112FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.23295970
113SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.22246653
114SPI1_23127762_ChIP-Seq_K562_Human1.21984787
115KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.20352279
116TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.19834581
117CTCF_26484167_Chip-Seq_Bcells_Mouse1.19687394
118TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19094173
119ELK1_19687146_ChIP-ChIP_HELA_Human1.19077066
120POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.18653331
121* KDM2B_26808549_Chip-Seq_JURKAT_Human1.18301179
122* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.18300530
123SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.18295358
124CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17696505
125CTCF_27219007_Chip-Seq_Bcells_Human1.17183750
126GATA1_19941826_ChIP-Seq_K562_Human1.17056646
127CREB1_26743006_Chip-Seq_LNCaP_Human1.16109214
128IRF8_21731497_ChIP-ChIP_J774_Mouse1.15225991
129* FOXP1_21924763_ChIP-Seq_HESCs_Human1.14966691
130LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.14538807
131PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14047186
132HOXB4_20404135_ChIP-ChIP_EML_Mouse1.13691497
133TET1_21451524_ChIP-Seq_MESCs_Mouse1.13377559
134CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.13042638
135KDM5A_27292631_Chip-Seq_BREAST_Human1.12720603
136TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.12717234
137PHF8_20622854_ChIP-Seq_HELA_Human1.12029023
138TFEB_21752829_ChIP-Seq_HELA_Human1.11238072
139* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.10896932
140ESR2_21235772_ChIP-Seq_MCF-7_Human1.10643577
141NCOR1_26117541_ChIP-Seq_K562_Human1.10602185
142* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.09692922
143CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09215268
144VDR_22108803_ChIP-Seq_LS180_Human1.09150632
145E2F1_20622854_ChIP-Seq_HELA_Human1.08382896
146IKZF1_21737484_ChIP-ChIP_HCT116_Human1.08190535
147NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.07996315
148GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.07867666
149SPI1_23547873_ChIP-Seq_NB4_Human1.07227982
150RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.07212510
151POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.06467166
152CTCF_21964334_Chip-Seq_Bcells_Human1.05369678
153CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.04917421
154* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04600556
155GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04566407
156DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.04454115
157CTCF_21964334_ChIP-Seq_BJAB-B_Human1.04316973
158ZNF263_19887448_ChIP-Seq_K562_Human1.04253472
159* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02812511
160ETS1_21867929_ChIP-Seq_TH2_Mouse1.02354177
161LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02293842
162HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.02054148
163RBPJ_22232070_ChIP-Seq_NCS_Mouse0.96389529
164MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93373136
165SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.93177779
166KLF4_18555785_ChIP-Seq_MESCs_Mouse0.91780857
167E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.90022206
168NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.89755276
169* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89518837
170PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.89298370
171CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.88659432
172REST_18959480_ChIP-ChIP_MESCs_Mouse0.87897630
173CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.87183422
174CTCF_20526341_ChIP-Seq_ESCs_Human0.85435623
175* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.83295872
176MYC_18940864_ChIP-ChIP_HL60_Human0.82891383
177TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82852908
178STAT3_1855785_ChIP-Seq_MESCs_Mouse0.82775994
179* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.82673955
180* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.82289825
181OCT4_18692474_ChIP-Seq_MEFs_Mouse0.80527364
182ELF1_20517297_ChIP-Seq_JURKAT_Human0.80295921
183TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.79937054
184HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.78948607

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006072_abnormal_retinal_apoptosis3.87470140
2MP0005551_abnormal_eye_electrophysiolog3.43515284
3MP0001986_abnormal_taste_sensitivity3.31753212
4MP0003436_decreased_susceptibility_to3.30628794
5MP0010386_abnormal_urinary_bladder3.10120281
6MP0004043_abnormal_pH_regulation3.02198307
7MP0003303_peritoneal_inflammation2.98106064
8MP0005451_abnormal_body_composition2.86993588
9MP0003191_abnormal_cellular_cholesterol2.85050415
10MP0005058_abnormal_lysosome_morphology2.81834123
11MP0002909_abnormal_adrenal_gland2.78234181
12MP0005253_abnormal_eye_physiology2.75096572
13MP0003724_increased_susceptibility_to2.62998568
14MP0002638_abnormal_pupillary_reflex2.44159547
15MP0009840_abnormal_foam_cell2.34973810
16MP0002837_dystrophic_cardiac_calcinosis2.33093222
17MP0006036_abnormal_mitochondrial_physio2.29989127
18MP0005025_abnormal_response_to2.28802869
19MP0004270_analgesia2.25562890
20MP0003693_abnormal_embryo_hatching2.19773938
21MP0002693_abnormal_pancreas_physiology2.19560103
22MP0003172_abnormal_lysosome_physiology2.19261048
23MP0000013_abnormal_adipose_tissue2.14084234
24MP0003329_amyloid_beta_deposits2.12582959
25MP0003011_delayed_dark_adaptation2.12234253
26MP0009785_altered_susceptibility_to2.09113532
27MP0005671_abnormal_response_to2.08003184
28MP0006082_CNS_inflammation2.07424087
29MP0003075_altered_response_to2.06636725
30MP0002419_abnormal_innate_immunity2.04736457
31MP0003806_abnormal_nucleotide_metabolis2.02621546
32MP0005000_abnormal_immune_tolerance2.02397675
33MP0003283_abnormal_digestive_organ1.97964101
34MP0001944_abnormal_pancreas_morphology1.96839443
35MP0001764_abnormal_homeostasis1.94382548
36MP0005220_abnormal_exocrine_pancreas1.91886521
37MP0004510_myositis1.91675598
38MP0000685_abnormal_immune_system1.89686028
39MP0001790_abnormal_immune_system1.89674277
40MP0005387_immune_system_phenotype1.89674277
41MP0002734_abnormal_mechanical_nocicepti1.86715652
42MP0005464_abnormal_platelet_physiology1.83550878
43MP0004947_skin_inflammation1.76392263
44MP0005083_abnormal_biliary_tract1.75996149
45MP0003183_abnormal_peptide_metabolism1.74969415
46MP0002735_abnormal_chemical_nociception1.74653497
47MP0001835_abnormal_antigen_presentation1.73014080
48MP0003705_abnormal_hypodermis_morpholog1.72066996
49MP0009333_abnormal_splenocyte_physiolog1.71346063
50MP0002148_abnormal_hypersensitivity_rea1.71201976
51MP0002420_abnormal_adaptive_immunity1.70289201
52MP0002723_abnormal_immune_serum1.68777557
53MP0001819_abnormal_immune_cell1.68403164
54MP0004858_abnormal_nervous_system1.68021109
55MP0004957_abnormal_blastocyst_morpholog1.66273808
56MP0003866_abnormal_defecation1.65739467
57MP0003763_abnormal_thymus_physiology1.65531171
58MP0001533_abnormal_skeleton_physiology1.64842597
59MP0000604_amyloidosis1.63686928
60MP0001529_abnormal_vocalization1.63520577
61MP0005084_abnormal_gallbladder_morpholo1.61792951
62MP0006276_abnormal_autonomic_nervous1.60104856
63MP0000858_altered_metastatic_potential1.58361189
64MP0006035_abnormal_mitochondrial_morpho1.57199354
65MP0001800_abnormal_humoral_immune1.55754190
66MP0004381_abnormal_hair_follicle1.54566802
67MP0002822_catalepsy1.54081912
68MP0002876_abnormal_thyroid_physiology1.53099493
69MP0010155_abnormal_intestine_physiology1.51717986
70MP0005379_endocrine/exocrine_gland_phen1.49288396
71MP0002452_abnormal_antigen_presenting1.47861645
72MP0003123_paternal_imprinting1.47448001
73MP0009278_abnormal_bone_marrow1.46836684
74MP0005423_abnormal_somatic_nervous1.46183994
75MP0002733_abnormal_thermal_nociception1.45996545
76MP0003646_muscle_fatigue1.44590900
77MP0001968_abnormal_touch/_nociception1.43968519
78MP0002877_abnormal_melanocyte_morpholog1.42995409
79MP0003300_gastrointestinal_ulcer1.42674160
80MP0005166_decreased_susceptibility_to1.41836321
81MP0000678_abnormal_parathyroid_gland1.41402600
82MP0005645_abnormal_hypothalamus_physiol1.40919257
83MP0001984_abnormal_olfaction1.40589172
84MP0002272_abnormal_nervous_system1.40551274
85MP0002229_neurodegeneration1.40299792
86MP0001970_abnormal_pain_threshold1.39563769
87MP0001905_abnormal_dopamine_level1.38777759
88MP0003879_abnormal_hair_cell1.38243872
89MP0000343_altered_response_to1.35803437
90MP0001845_abnormal_inflammatory_respons1.32487134
91MP0004215_abnormal_myocardial_fiber1.31827232
92MP0008874_decreased_physiological_sensi1.29386887
93MP0002736_abnormal_nociception_after1.29341259
94MP0003195_calcinosis1.29112799
95MP0001756_abnormal_urination1.26901530
96MP0003122_maternal_imprinting1.25172438
97MP0003880_abnormal_central_pattern1.24422932
98MP0000716_abnormal_immune_system1.23067561
99MP0004147_increased_porphyrin_level1.22849077
100MP0002132_abnormal_respiratory_system1.22767910
101MP0002078_abnormal_glucose_homeostasis1.22699529
102MP0008789_abnormal_olfactory_epithelium1.22003502
103MP0004859_abnormal_synaptic_plasticity1.21791616
104MP0001958_emphysema1.21652565
105MP0000749_muscle_degeneration1.21561060
106MP0008058_abnormal_DNA_repair1.21167630
107MP0002398_abnormal_bone_marrow1.19409866
108MP0003186_abnormal_redox_activity1.19332781
109MP0002405_respiratory_system_inflammati1.19286720
110MP0003635_abnormal_synaptic_transmissio1.17540541
111MP0004233_abnormal_muscle_weight1.17393930
112MP0003690_abnormal_glial_cell1.16736623
113MP0003656_abnormal_erythrocyte_physiolo1.16700544
114MP0003453_abnormal_keratinocyte_physiol1.14859656
115MP0002090_abnormal_vision1.14047956
116MP0000358_abnormal_cell_content/1.13046485
117MP0008469_abnormal_protein_level1.12543951
118MP0005636_abnormal_mineral_homeostasis1.12385812
119MP0005646_abnormal_pituitary_gland1.08411990
120MP0005394_taste/olfaction_phenotype1.06218610
121MP0005499_abnormal_olfactory_system1.06218610
122MP0002429_abnormal_blood_cell1.04711166
123MP0002751_abnormal_autonomic_nervous1.04369775
124MP0001542_abnormal_bone_strength1.03625688
125MP0009764_decreased_sensitivity_to1.03567637
126MP0005195_abnormal_posterior_eye1.03492339
127MP0002653_abnormal_ependyma_morphology1.03197364
128MP0004036_abnormal_muscle_relaxation1.02953337
129MP0000920_abnormal_myelination1.02407576
130MP0006292_abnormal_olfactory_placode1.00863611
131MP0004084_abnormal_cardiac_muscle0.99977917
132MP0002933_joint_inflammation0.98963445
133MP0002163_abnormal_gland_morphology0.97661125
134MP0002722_abnormal_immune_system0.97558668
135MP0001849_ear_inflammation0.97288193
136MP0005535_abnormal_body_temperature0.97088174
137MP0004142_abnormal_muscle_tone0.97075198
138MP0003953_abnormal_hormone_level0.96045088
139MP0004133_heterotaxia0.94051531
140MP0003279_aneurysm0.93064978
141MP0005584_abnormal_enzyme/coenzyme_acti0.92889100
142MP0001873_stomach_inflammation0.92845361
143MP0000465_gastrointestinal_hemorrhage0.92023403
144MP0008438_abnormal_cutaneous_collagen0.91810116
145MP0000681_abnormal_thyroid_gland0.91072668
146MP0008260_abnormal_autophagy0.90555821
147MP0002184_abnormal_innervation0.90139879
148MP0000631_abnormal_neuroendocrine_gland0.89606462
149MP0000230_abnormal_systemic_arterial0.89215200
150MP0001545_abnormal_hematopoietic_system0.89020325
151MP0005397_hematopoietic_system_phenotyp0.89020325
152MP0003959_abnormal_lean_body0.88583731
153MP0002998_abnormal_bone_remodeling0.87944429
154MP0009780_abnormal_chondrocyte_physiolo0.87942905
155MP0009643_abnormal_urine_homeostasis0.87357108
156MP0001502_abnormal_circadian_rhythm0.87043941
157MP0004145_abnormal_muscle_electrophysio0.87004079
158MP0008932_abnormal_embryonic_tissue0.86900993
159MP0002269_muscular_atrophy0.86141018
160MP0008877_abnormal_DNA_methylation0.85787956
161MP0004811_abnormal_neuron_physiology0.85492318
162MP0002752_abnormal_somatic_nervous0.84947191
163MP0002332_abnormal_exercise_endurance0.84768929
164MP0002063_abnormal_learning/memory/cond0.84100807
165MP0002160_abnormal_reproductive_system0.83925792
166MP0005391_vision/eye_phenotype0.83613983
167MP0001851_eye_inflammation0.83491202
168MP0000689_abnormal_spleen_morphology0.83412761
169MP0005266_abnormal_metabolism0.82994670
170MP0005310_abnormal_salivary_gland0.82905747
171MP0001664_abnormal_digestion0.82190348
172MP0005165_increased_susceptibility_to0.79575690
173MP0005390_skeleton_phenotype0.79377674
174MP0003718_maternal_effect0.78850927
175MP0009745_abnormal_behavioral_response0.78746413
176MP0002882_abnormal_neuron_morphology0.78274148
177MP0005377_hearing/vestibular/ear_phenot0.78164705
178MP0003878_abnormal_ear_physiology0.78164705
179MP0002067_abnormal_sensory_capabilities0.78025410
180MP0000703_abnormal_thymus_morphology0.77978314
181MP0002796_impaired_skin_barrier0.75402700
182MP0003566_abnormal_cell_adhesion0.74622790
183MP0004185_abnormal_adipocyte_glucose0.74302824
184MP0001663_abnormal_digestive_system0.74026199
185MP0000015_abnormal_ear_pigmentation0.73856562
186MP0005075_abnormal_melanosome_morpholog0.73685623
187MP0005501_abnormal_skin_physiology0.72702830
188MP0008569_lethality_at_weaning0.72591124
189MP0003828_pulmonary_edema0.70808193

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)5.27971779
2Acute necrotizing encephalopathy (HP:0006965)4.81121738
3Abnormal mitochondria in muscle tissue (HP:0008316)4.75092923
4Absent rod-and cone-mediated responses on ERG (HP:0007688)4.48283877
5Eczematoid dermatitis (HP:0000976)4.34752936
6Abnormal rod and cone electroretinograms (HP:0008323)4.34436654
7Mitochondrial inheritance (HP:0001427)4.00343787
8Acute encephalopathy (HP:0006846)3.96929961
9Decreased activity of mitochondrial respiratory chain (HP:0008972)3.80746597
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.80746597
11Progressive macrocephaly (HP:0004481)3.79914002
12Bony spicule pigmentary retinopathy (HP:0007737)3.72280597
13Abnormality of macrophages (HP:0004311)3.68039628
14Increased CSF lactate (HP:0002490)3.62843074
15Hepatic necrosis (HP:0002605)3.62826183
16Hypochromic microcytic anemia (HP:0004840)3.62584645
17Abnormality of the heme biosynthetic pathway (HP:0010472)3.61460453
18Hepatocellular necrosis (HP:0001404)3.60362638
19Central scotoma (HP:0000603)3.51008106
20Abnormality of glycolipid metabolism (HP:0010969)3.45249059
21Abnormality of liposaccharide metabolism (HP:0010968)3.45249059
22Abnormality of glycosphingolipid metabolism (HP:0004343)3.45249059
23Recurrent abscess formation (HP:0002722)3.27056524
24Recurrent bacterial skin infections (HP:0005406)3.24095924
25Abnormality of macular pigmentation (HP:0008002)3.18496718
26Dyschromatopsia (HP:0007641)3.18153226
27Severe visual impairment (HP:0001141)3.15108261
28Abnormal gallbladder physiology (HP:0012438)3.14483828
29Cholecystitis (HP:0001082)3.14483828
30Lactic acidosis (HP:0003128)3.09187676
31Obstructive lung disease (HP:0006536)3.05888544
32Chronic obstructive pulmonary disease (HP:0006510)3.05888544
33Optic disc pallor (HP:0000543)3.02679611
34Progressive muscle weakness (HP:0003323)2.99500299
35Type I transferrin isoform profile (HP:0003642)2.97598315
36Elevated erythrocyte sedimentation rate (HP:0003565)2.97558223
37Increased IgE level (HP:0003212)2.97440073
38Pheochromocytoma (HP:0002666)2.94874829
39Hyperinsulinemic hypoglycemia (HP:0000825)2.89320544
40Increased serum lactate (HP:0002151)2.88965131
41Neuroendocrine neoplasm (HP:0100634)2.85436541
42Hypoglycemic coma (HP:0001325)2.84331779
43Cerebral hypomyelination (HP:0006808)2.82811480
44Supranuclear gaze palsy (HP:0000605)2.82505719
45Myositis (HP:0100614)2.81507856
46Attenuation of retinal blood vessels (HP:0007843)2.81101579
47Exercise intolerance (HP:0003546)2.75798800
48Hypoglycemic seizures (HP:0002173)2.74200162
49Dysostosis multiplex (HP:0000943)2.74124090
50Vertebral compression fractures (HP:0002953)2.73358209
51Hypochromic anemia (HP:0001931)2.72930185
52Cellulitis (HP:0100658)2.70629598
53Gastrointestinal infarctions (HP:0005244)2.70346891
54Axonal loss (HP:0003447)2.67267054
55Interstitial pulmonary disease (HP:0006530)2.63618033
56Unsteady gait (HP:0002317)2.59605829
57Respiratory failure (HP:0002878)2.59422779
58Cerebral edema (HP:0002181)2.58423464
59Increased intramyocellular lipid droplets (HP:0012240)2.56366206
60Mediastinal lymphadenopathy (HP:0100721)2.56265918
61Lipid accumulation in hepatocytes (HP:0006561)2.54377254
62Cholelithiasis (HP:0001081)2.52149520
63Petechiae (HP:0000967)2.50071662
64Decreased central vision (HP:0007663)2.49105057
65Increased hepatocellular lipid droplets (HP:0006565)2.48925154
66Scotoma (HP:0000575)2.48732950
67Emotional lability (HP:0000712)2.47427188
68Slow saccadic eye movements (HP:0000514)2.46069477
69Hypertensive crisis (HP:0100735)2.45264189
70Ankle clonus (HP:0011448)2.45024242
71Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.44881290
72Abnormal protein N-linked glycosylation (HP:0012347)2.44881290
73Abnormal protein glycosylation (HP:0012346)2.44881290
74Abnormal glycosylation (HP:0012345)2.44881290
75Microcytic anemia (HP:0001935)2.44709857
76Urticaria (HP:0001025)2.44402345
77Orchitis (HP:0100796)2.44271199
78Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.43276625
79Abnormality of alanine metabolism (HP:0010916)2.43276625
80Hyperalaninemia (HP:0003348)2.43276625
81Abnormal hemoglobin (HP:0011902)2.42451368
82Recurrent gram-negative bacterial infections (HP:0005420)2.42138496
83Ketoacidosis (HP:0001993)2.40743214
84Increased muscle lipid content (HP:0009058)2.39619817
85Type II diabetes mellitus (HP:0005978)2.39016845
86Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.36777325
87Purpura (HP:0000979)2.31854100
88Myokymia (HP:0002411)2.31461532
89Cerebral inclusion bodies (HP:0100314)2.31381270
90Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.31172997
91Amyloidosis (HP:0011034)2.30420951
92Polycythemia (HP:0001901)2.28447796
93Symptomatic seizures (HP:0011145)2.26873664
94Constricted visual fields (HP:0001133)2.26746261
95Palpitations (HP:0001962)2.25512921
96Delusions (HP:0000746)2.25306037
97Neurofibrillary tangles (HP:0002185)2.24875760
98Neuronal loss in central nervous system (HP:0002529)2.24303167
99Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.23994370
100Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.23889434
101Gingivitis (HP:0000230)2.23716487
102Meningitis (HP:0001287)2.22790964
103Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.20350199
104Increased serum ferritin (HP:0003281)2.18857761
105Abnormality of polysaccharide metabolism (HP:0011012)2.18586025
106Abnormality of glycosaminoglycan metabolism (HP:0004371)2.18586025
107Abnormality of mucopolysaccharide metabolism (HP:0011020)2.18586025
108Abnormal number of erythroid precursors (HP:0012131)2.17787758
109Stomatitis (HP:0010280)2.16130391
110Distal lower limb muscle weakness (HP:0009053)2.16078025
111Pendular nystagmus (HP:0012043)2.14573492
112Abnormality of cells of the erythroid lineage (HP:0012130)2.14147317
113Generalized aminoaciduria (HP:0002909)2.14121386
114Abnormal gallbladder morphology (HP:0012437)2.12588152
115CNS demyelination (HP:0007305)2.11470255
116Increased serum pyruvate (HP:0003542)2.10851129
117Abnormality of glycolysis (HP:0004366)2.10851129
118Systemic lupus erythematosus (HP:0002725)2.10652878
119Abnormality of the nasal mucosa (HP:0000433)2.10284562
120Loss of speech (HP:0002371)2.10271988
121Growth hormone excess (HP:0000845)2.09574298
122Posterior subcapsular cataract (HP:0007787)2.09471409
123Recurrent fungal infections (HP:0002841)2.07541049
124Degeneration of anterior horn cells (HP:0002398)2.06084774
125Abnormality of the anterior horn cell (HP:0006802)2.06084774
126Aplastic anemia (HP:0001915)2.06063759
127Myoglobinuria (HP:0002913)2.05353474
128Episodic fever (HP:0001954)2.05264844
129Distal upper limb amyotrophy (HP:0007149)2.04694672
130Upper limb amyotrophy (HP:0009129)2.04694672
131Pigmentary retinal degeneration (HP:0001146)2.04588513
132Dysautonomia (HP:0002459)2.04271351
133Late onset (HP:0003584)2.03590835
134Recurrent skin infections (HP:0001581)2.02978719
135Hypertriglyceridemia (HP:0002155)2.02133001
136Visual hallucinations (HP:0002367)2.02065984
137J-shaped sella turcica (HP:0002680)2.01258565
138Hepatosplenomegaly (HP:0001433)1.99346906
139Increased cerebral lipofuscin (HP:0011813)1.97291918
140Gastrointestinal inflammation (HP:0004386)1.96622790
141Microretrognathia (HP:0000308)1.96157644
142Gait imbalance (HP:0002141)1.95978766
143Hypoplasia of the pons (HP:0012110)1.95609529
144Urinary glycosaminoglycan excretion (HP:0003541)1.95450633
145Mucopolysacchariduria (HP:0008155)1.95450633
146Hyperphosphaturia (HP:0003109)1.94705543
147Retinitis pigmentosa (HP:0000510)1.94188789
148Neoplasm of the adrenal gland (HP:0100631)1.93586500
149Hypergammaglobulinemia (HP:0010702)1.93113535
150Postnatal microcephaly (HP:0005484)1.93100696
151Nephrogenic diabetes insipidus (HP:0009806)1.93012501
152Nasal polyposis (HP:0100582)1.92992884
153Congenital primary aphakia (HP:0007707)1.92981215
154Reticulocytosis (HP:0001923)1.92589965
1553-Methylglutaconic aciduria (HP:0003535)1.91992369
156Inflammation of the large intestine (HP:0002037)1.91866338
157Ventricular fibrillation (HP:0001663)1.91729683
158Leukodystrophy (HP:0002415)1.91452330
159Progressive neurologic deterioration (HP:0002344)1.90496949
160Hypothermia (HP:0002045)1.90148270
161Photophobia (HP:0000613)1.89876105
162Medial flaring of the eyebrow (HP:0010747)1.89509714
163Poor suck (HP:0002033)1.88450156
164Abnormality of calcium-phosphate metabolism (HP:0100530)1.88240381
165Gout (HP:0001997)1.87610324
166Achilles tendon contracture (HP:0001771)1.85560484
167Muscular hypotonia of the trunk (HP:0008936)1.83012826
168Lethargy (HP:0001254)1.82985431
169Ragged-red muscle fibers (HP:0003200)1.82393099
170Gastrointestinal dysmotility (HP:0002579)1.81999215
171Obstructive sleep apnea (HP:0002870)1.81157446
172Abnormality of iron homeostasis (HP:0011031)1.79835393
173Neoplasm of the peripheral nervous system (HP:0100007)1.79206517
174Glycosuria (HP:0003076)1.78745562
175Abnormality of urine glucose concentration (HP:0011016)1.78745562
176Retrobulbar optic neuritis (HP:0100654)1.78413379
177Optic neuritis (HP:0100653)1.78413379
178EEG with generalized epileptiform discharges (HP:0011198)1.78406645
179Stridor (HP:0010307)1.78329622
180Colitis (HP:0002583)1.78211324
181Pustule (HP:0200039)1.78167195
182Abnormal pancreas size (HP:0012094)1.77830016
183Myopathic facies (HP:0002058)1.76319241
184Epistaxis (HP:0000421)1.74999503
185Spontaneous hematomas (HP:0007420)1.74465167
186Peripheral hypomyelination (HP:0007182)1.72780304
187Distal lower limb amyotrophy (HP:0008944)1.72036335
188Increased IgM level (HP:0003496)1.71929788
189Abnormality of the gallbladder (HP:0005264)1.71721856
190Agammaglobulinemia (HP:0004432)1.71332061
191Vasculitis (HP:0002633)1.70941479
192Segmental peripheral demyelination/remyelination (HP:0003481)1.70427719
193Rapidly progressive (HP:0003678)1.69519614
194Hand muscle atrophy (HP:0009130)1.69195695
195Prolonged bleeding time (HP:0003010)1.68556945
196Abnormality of binocular vision (HP:0011514)1.68226215

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NME13.31517521
2ERN13.12185183
3NME22.97213961
4ARAF2.94742623
5NEK12.93548015
6BUB12.93541511
7TRIB32.89968241
8STK162.77388737
9BCKDK2.72645046
10SCYL22.70513231
11PRPF4B2.61125811
12RIPK42.53806114
13EIF2AK12.49943150
14MAP3K122.35591781
15PRKD32.32517177
16PASK2.29860649
17BRAF2.19528579
18PINK12.15411843
19MAP4K12.06416565
20GRK62.05817156
21MAP2K32.01769114
22TAOK22.01024077
23EIF2AK31.95792798
24MAPK151.91250560
25TESK11.91022947
26INSRR1.76405589
27MINK11.65014279
28TNK21.63488236
29TAOK11.62290513
30VRK11.57627895
31WNK31.55995898
32MARK11.55163237
33TESK21.55063227
34IRAK41.54900092
35TBK11.52118621
36CAMKK21.48231155
37ZAP701.48207290
38PIM21.46924411
39MAP3K111.45341136
40FES1.45245977
41SIK11.42794916
42TYK21.38375808
43PAK61.34172924
44EPHB11.33471562
45BLK1.31479113
46LIMK11.30404892
47MAP3K21.28291165
48MYLK1.26924557
49TSSK61.26587632
50WEE11.22759306
51SIK21.20563745
52PBK1.18948198
53FLT31.17064275
54SMG11.13990435
55EPHA21.12253437
56MARK21.11731293
57BRSK11.10958880
58NTRK31.10155984
59DAPK11.09989650
60STK38L1.09287429
61PRKD21.08398173
62PKN21.08339102
63MAPKAPK31.07151388
64CSK1.05146817
65PRKCI0.99256354
66AURKA0.99112379
67BRSK20.98617984
68DAPK20.97328550
69GRK50.96651553
70CCNB10.95945719
71GRK10.95765601
72LRRK20.94051287
73AKT30.93678456
74PDPK10.91424157
75MAP2K20.91192518
76SRPK10.90892264
77WNK40.90534008
78DYRK30.89704439
79MAPK120.87084949
80NTRK10.86850848
81ACVR1B0.86281542
82ZAK0.84854157
83DYRK20.84559477
84MAP2K70.83969217
85IRAK30.82855410
86RIPK10.81991200
87IKBKE0.81788537
88HCK0.81431064
89KSR20.81255464
90BCR0.80873922
91MAP3K90.80212918
92PDK10.78209229
93PTK60.77566490
94ICK0.76828099
95BMX0.75799432
96SYK0.75697812
97MAP3K130.75457219
98PAK40.74372844
99STK380.73783167
100PLK30.72436951
101BTK0.72001376
102LMTK20.70994289
103JAK30.70333388
104UHMK10.68162939
105IRAK20.68056797
106KDR0.67388537
107PLK40.66404715
108CAMK2D0.65503833
109MAP3K60.65072512
110CAMKK10.62456522
111CDK190.61676081
112MAP3K10.61347234
113RAF10.59058382
114MAP2K60.59000018
115JAK20.58204220
116FGR0.58100329
117BMPR1B0.56565384
118PHKG20.55059891
119PHKG10.55059891
120EPHA40.54896785
121RPS6KA20.54713779
122DAPK30.53719536
123CDK140.52888097
124DYRK1B0.52602106
125CDC42BPA0.52485616
126RPS6KA40.50554570
127PLK10.50411389
128MAPK130.50231995
129FYN0.50084916
130PRKG20.49672855
131MOS0.49353070
132PDK40.49045916
133PDK30.49045916
134FGFR40.48564652
135MAP3K40.48493307
136SIK30.48361328
137LCK0.47392282
138PRKCG0.46214441
139LYN0.45931444
140CAMK2G0.45445245
141IKBKB0.45431702
142ERBB30.45122693
143MAPK110.45108741
144PRKD10.43233578
145CSNK2A20.42684123
146ABL20.42633142
147PTK2B0.42234711
148MAP3K50.42183469
149HIPK20.41740099
150TXK0.41629437
151MAP2K10.40915094
152RET0.40730654
153IRAK10.40528620
154CSNK2A10.40389816
155TGFBR20.39817170
156FRK0.39386457
157RPS6KL10.39292546
158RPS6KC10.39292546
159PAK10.39144847
160CDK50.38184979
161MAP2K40.37834747
162ILK0.36340973
163DYRK1A0.35591200
164BMPR20.35331478
165RPS6KB20.33707267
166RPS6KA50.33666742
167MAP3K30.33219367

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030604.11154222
2Proteasome_Homo sapiens_hsa030504.06174566
3Phototransduction_Homo sapiens_hsa047443.99147077
4Oxidative phosphorylation_Homo sapiens_hsa001903.58912321
5Maturity onset diabetes of the young_Homo sapiens_hsa049503.42261614
6Parkinsons disease_Homo sapiens_hsa050123.29335150
7RNA polymerase_Homo sapiens_hsa030202.80079372
8Ribosome_Homo sapiens_hsa030102.57580320
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.52715904
10Huntingtons disease_Homo sapiens_hsa050162.37304814
11Synaptic vesicle cycle_Homo sapiens_hsa047212.30299105
12Alzheimers disease_Homo sapiens_hsa050102.18285815
13Osteoclast differentiation_Homo sapiens_hsa043802.00543312
14Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.97519080
15Pyrimidine metabolism_Homo sapiens_hsa002401.94981209
16Vibrio cholerae infection_Homo sapiens_hsa051101.89974186
17Primary immunodeficiency_Homo sapiens_hsa053401.82686013
18DNA replication_Homo sapiens_hsa030301.80272572
19Folate biosynthesis_Homo sapiens_hsa007901.72018905
20Cardiac muscle contraction_Homo sapiens_hsa042601.67616804
21Malaria_Homo sapiens_hsa051441.67505501
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.65096076
23Mismatch repair_Homo sapiens_hsa034301.64034782
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.62449689
25Leishmaniasis_Homo sapiens_hsa051401.59526226
26Insulin secretion_Homo sapiens_hsa049111.59223463
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.58719352
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.58016803
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.57740652
30SNARE interactions in vesicular transport_Homo sapiens_hsa041301.54878004
31Toll-like receptor signaling pathway_Homo sapiens_hsa046201.54642800
32VEGF signaling pathway_Homo sapiens_hsa043701.53931815
33Salmonella infection_Homo sapiens_hsa051321.52417614
34Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.52414617
35Collecting duct acid secretion_Homo sapiens_hsa049661.51155484
36Shigellosis_Homo sapiens_hsa051311.50576249
37Tuberculosis_Homo sapiens_hsa051521.46503557
38* Purine metabolism_Homo sapiens_hsa002301.45845212
39Sulfur metabolism_Homo sapiens_hsa009201.44818399
40Endocytosis_Homo sapiens_hsa041441.41736655
41Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.39459369
42Acute myeloid leukemia_Homo sapiens_hsa052211.39392342
43Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37489749
44B cell receptor signaling pathway_Homo sapiens_hsa046621.37092505
45Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.29659663
46RNA transport_Homo sapiens_hsa030131.28462426
47Phagosome_Homo sapiens_hsa041451.28425226
48Spliceosome_Homo sapiens_hsa030401.25852969
49Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.25800958
50Prion diseases_Homo sapiens_hsa050201.25293887
51Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.23143466
52N-Glycan biosynthesis_Homo sapiens_hsa005101.22292372
53Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.19667041
54Fructose and mannose metabolism_Homo sapiens_hsa000511.19239153
55Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.17947932
56T cell receptor signaling pathway_Homo sapiens_hsa046601.16772971
57Regulation of autophagy_Homo sapiens_hsa041401.13032943
58Nucleotide excision repair_Homo sapiens_hsa034201.12584094
592-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.10594465
60Staphylococcus aureus infection_Homo sapiens_hsa051501.10558804
61Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.09626917
62Non-small cell lung cancer_Homo sapiens_hsa052231.09432844
63Allograft rejection_Homo sapiens_hsa053301.09015757
64Galactose metabolism_Homo sapiens_hsa000521.08755779
65Chemokine signaling pathway_Homo sapiens_hsa040621.08310513
66Graft-versus-host disease_Homo sapiens_hsa053321.07507092
67Base excision repair_Homo sapiens_hsa034101.06266303
68RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.02774918
69Autoimmune thyroid disease_Homo sapiens_hsa053201.00652874
70Toxoplasmosis_Homo sapiens_hsa051450.99753696
71Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.97845261
72Pertussis_Homo sapiens_hsa051330.94084275
73Antigen processing and presentation_Homo sapiens_hsa046120.93456136
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.92848800
75Rheumatoid arthritis_Homo sapiens_hsa053230.91432359
76Hepatitis C_Homo sapiens_hsa051600.91079953
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.90124651
78GABAergic synapse_Homo sapiens_hsa047270.89742107
79Sulfur relay system_Homo sapiens_hsa041220.89087578
80Apoptosis_Homo sapiens_hsa042100.87738589
81Pancreatic cancer_Homo sapiens_hsa052120.86666719
82NF-kappa B signaling pathway_Homo sapiens_hsa040640.86216899
83Chronic myeloid leukemia_Homo sapiens_hsa052200.85235328
84Carbon metabolism_Homo sapiens_hsa012000.85131892
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.84931676
86Adipocytokine signaling pathway_Homo sapiens_hsa049200.84440779
87Pyruvate metabolism_Homo sapiens_hsa006200.83290140
88Homologous recombination_Homo sapiens_hsa034400.81376018
89Cysteine and methionine metabolism_Homo sapiens_hsa002700.81293953
90Hematopoietic cell lineage_Homo sapiens_hsa046400.80699427
91Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.80235707
92TNF signaling pathway_Homo sapiens_hsa046680.79829933
93Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79796145
94GnRH signaling pathway_Homo sapiens_hsa049120.79645531
95Measles_Homo sapiens_hsa051620.79277665
96African trypanosomiasis_Homo sapiens_hsa051430.77186388
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.76196174
98RNA degradation_Homo sapiens_hsa030180.75751616
99Biosynthesis of amino acids_Homo sapiens_hsa012300.75545534
100Phospholipase D signaling pathway_Homo sapiens_hsa040720.74688997
101Influenza A_Homo sapiens_hsa051640.74288602
102Viral myocarditis_Homo sapiens_hsa054160.71688039
103Dopaminergic synapse_Homo sapiens_hsa047280.70231896
104Legionellosis_Homo sapiens_hsa051340.69257849
105* Metabolic pathways_Homo sapiens_hsa011000.68953094
106Glioma_Homo sapiens_hsa052140.68143436
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.66804712
108Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66436184
109Basal transcription factors_Homo sapiens_hsa030220.65811216
110Type I diabetes mellitus_Homo sapiens_hsa049400.65486770
111Bladder cancer_Homo sapiens_hsa052190.65318289
112Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.65188108
113Pancreatic secretion_Homo sapiens_hsa049720.63623686
114Phosphatidylinositol signaling system_Homo sapiens_hsa040700.61795422
115Circadian entrainment_Homo sapiens_hsa047130.61495185
116Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.60314578
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.59208954
118NOD-like receptor signaling pathway_Homo sapiens_hsa046210.58630920
119Amphetamine addiction_Homo sapiens_hsa050310.58432692
120Notch signaling pathway_Homo sapiens_hsa043300.57473510
121Olfactory transduction_Homo sapiens_hsa047400.57386553
122Circadian rhythm_Homo sapiens_hsa047100.56082571
123Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55742816
124HIF-1 signaling pathway_Homo sapiens_hsa040660.55111074
125Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.54370954
126Insulin signaling pathway_Homo sapiens_hsa049100.54183252
127Taste transduction_Homo sapiens_hsa047420.54073557
128Hepatitis B_Homo sapiens_hsa051610.52468834
129ErbB signaling pathway_Homo sapiens_hsa040120.51998407
130Renal cell carcinoma_Homo sapiens_hsa052110.50512844
131Herpes simplex infection_Homo sapiens_hsa051680.49097224
132Cholinergic synapse_Homo sapiens_hsa047250.48838474
133Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.48430674
134Serotonergic synapse_Homo sapiens_hsa047260.48241456
135AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.47776805
136Morphine addiction_Homo sapiens_hsa050320.47356884
137mTOR signaling pathway_Homo sapiens_hsa041500.47170283
138Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.47103220
139Alcoholism_Homo sapiens_hsa050340.46801662
140Cocaine addiction_Homo sapiens_hsa050300.45234090
141Thyroid cancer_Homo sapiens_hsa052160.44968250
142Oocyte meiosis_Homo sapiens_hsa041140.44553981
143Central carbon metabolism in cancer_Homo sapiens_hsa052300.43234354
144Pentose phosphate pathway_Homo sapiens_hsa000300.42895619
145AMPK signaling pathway_Homo sapiens_hsa041520.42422593
146Nicotine addiction_Homo sapiens_hsa050330.41425832
147Selenocompound metabolism_Homo sapiens_hsa004500.39971793
148Glutathione metabolism_Homo sapiens_hsa004800.39529325
149Drug metabolism - other enzymes_Homo sapiens_hsa009830.39178152
150One carbon pool by folate_Homo sapiens_hsa006700.38484321
151Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.38025939
152Cyanoamino acid metabolism_Homo sapiens_hsa004600.37792648
153Arginine and proline metabolism_Homo sapiens_hsa003300.37413345
154Long-term potentiation_Homo sapiens_hsa047200.35893990
155Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.35158871
156Phenylalanine metabolism_Homo sapiens_hsa003600.35043085
157Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.34260958
158Epstein-Barr virus infection_Homo sapiens_hsa051690.33569939
159Glucagon signaling pathway_Homo sapiens_hsa049220.33337552
160Fat digestion and absorption_Homo sapiens_hsa049750.31772970
161Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.31378377
162Lysosome_Homo sapiens_hsa041420.29426271
163Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.28894929
164Propanoate metabolism_Homo sapiens_hsa006400.26893072
165Linoleic acid metabolism_Homo sapiens_hsa005910.25990612
166Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.25213513
167Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25050027
168Cell cycle_Homo sapiens_hsa041100.22786659
169Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.21057613
170Arachidonic acid metabolism_Homo sapiens_hsa005900.20429709
171Thyroid hormone synthesis_Homo sapiens_hsa049180.19807484
172Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.18772128
173Other glycan degradation_Homo sapiens_hsa005110.17920829

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