ATXN3

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: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of posttranscriptional gene silencing (GO:0060147)7.65246492
2regulation of gene silencing by miRNA (GO:0060964)7.65246492
3regulation of gene silencing by RNA (GO:0060966)7.65246492
4negative regulation of translation involved in gene silencing by miRNA (GO:0035278)6.67529759
5negative regulation of translation, ncRNA-mediated (GO:0040033)6.67529759
6regulation of translation, ncRNA-mediated (GO:0045974)6.67529759
7regulation of hippo signaling (GO:0035330)5.11920967
8pre-miRNA processing (GO:0031054)4.82343180
9nuclear pore complex assembly (GO:0051292)4.37800120
10nuclear pore organization (GO:0006999)4.21659895
11protein localization to kinetochore (GO:0034501)4.17489498
12kynurenine metabolic process (GO:0070189)4.15211643
13tryptophan catabolic process (GO:0006569)4.14819687
14indole-containing compound catabolic process (GO:0042436)4.14819687
15indolalkylamine catabolic process (GO:0046218)4.14819687
16snRNA transcription (GO:0009301)4.06308312
17interkinetic nuclear migration (GO:0022027)3.95111907
18antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.88633739
19indolalkylamine metabolic process (GO:0006586)3.85651676
20signal peptide processing (GO:0006465)3.82684923
21pore complex assembly (GO:0046931)3.80562148
22protein localization to chromosome, centromeric region (GO:0071459)3.77087146
23mitotic metaphase plate congression (GO:0007080)3.71724138
24positive regulation of developmental pigmentation (GO:0048087)3.67228428
25musculoskeletal movement (GO:0050881)3.65265614
26multicellular organismal movement (GO:0050879)3.65265614
27behavioral response to nicotine (GO:0035095)3.64867907
28reflex (GO:0060004)3.55797354
29regulation of gene silencing (GO:0060968)3.54472340
30regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.52653313
31tryptophan metabolic process (GO:0006568)3.47284844
32positive regulation of B cell differentiation (GO:0045579)3.43513271
33regulation of pigment cell differentiation (GO:0050932)3.42862016
34positive regulation of gamma-delta T cell activation (GO:0046645)3.41921139
35cilium or flagellum-dependent cell motility (GO:0001539)3.40886366
36regulation of establishment of cell polarity (GO:2000114)3.36252721
37sulfation (GO:0051923)3.33131007
38cytoplasmic mRNA processing body assembly (GO:0033962)3.32389275
39gamma-aminobutyric acid transport (GO:0015812)3.31728939
40histone H3-K9 methylation (GO:0051567)3.31073058
41regulation of sarcomere organization (GO:0060297)3.26440111
42NAD biosynthetic process (GO:0009435)3.26160830
43positive regulation by symbiont of host defense response (GO:0052509)3.25529026
44modulation by symbiont of host defense response (GO:0052031)3.25529026
45modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.25529026
46modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.25529026
47positive regulation by organism of defense response of other organism involved in symbiotic interact3.25529026
48modulation by symbiont of host immune response (GO:0052553)3.25529026
49mitotic sister chromatid cohesion (GO:0007064)3.20789919
50regulation of spindle organization (GO:0090224)3.18413709
51mitotic nuclear envelope disassembly (GO:0007077)3.17671449
52metaphase plate congression (GO:0051310)3.16347930
53positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)3.12125794
54regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)3.12125794
55cell wall macromolecule metabolic process (GO:0044036)3.11516197
56cell wall macromolecule catabolic process (GO:0016998)3.11516197
57attachment of spindle microtubules to kinetochore (GO:0008608)3.10948145
58regulation of establishment or maintenance of cell polarity (GO:0032878)3.06446158
59* monoubiquitinated protein deubiquitination (GO:0035520)3.04969711
60immunoglobulin mediated immune response (GO:0016064)3.04913368
61negative regulation of sodium ion transport (GO:0010766)3.04272509
62glucocorticoid receptor signaling pathway (GO:0042921)2.98199037
63detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.97725726
64regulation of mesoderm development (GO:2000380)2.97062884
65establishment of chromosome localization (GO:0051303)2.97033263
66membrane disassembly (GO:0030397)2.96856317
67nuclear envelope disassembly (GO:0051081)2.96856317
68positive regulation of CREB transcription factor activity (GO:0032793)2.96852527
69negative regulation of systemic arterial blood pressure (GO:0003085)2.96061837
70positive regulation of mRNA catabolic process (GO:0061014)2.95902251
71regulation of female gonad development (GO:2000194)2.94348508
72regulation of interferon-beta biosynthetic process (GO:0045357)2.91474797
73establishment of protein localization to Golgi (GO:0072600)2.91303182
74positive regulation of chromosome segregation (GO:0051984)2.91178051
75detection of light stimulus involved in sensory perception (GO:0050962)2.88998435
76detection of light stimulus involved in visual perception (GO:0050908)2.88998435
77indole-containing compound metabolic process (GO:0042430)2.88170329
78kidney morphogenesis (GO:0060993)2.88107506
79regulation of mitotic spindle organization (GO:0060236)2.88016303
80purine nucleobase biosynthetic process (GO:0009113)2.87464071
81regulation of RNA export from nucleus (GO:0046831)2.87318544
82CENP-A containing nucleosome assembly (GO:0034080)2.87228060
83cardiovascular system development (GO:0072358)2.85162672
84DNA replication checkpoint (GO:0000076)2.84739446
85histone exchange (GO:0043486)2.83265465
86B cell mediated immunity (GO:0019724)2.82414995
87positive regulation of protein import into nucleus, translocation (GO:0033160)2.82138754
88chromatin remodeling at centromere (GO:0031055)2.81235432
89neutrophil activation involved in immune response (GO:0002283)2.80756348
90cellular response to sterol (GO:0036315)2.80238355
91nodal signaling pathway (GO:0038092)2.79508509
92natural killer cell mediated cytotoxicity (GO:0042267)2.78924677
93natural killer cell mediated immunity (GO:0002228)2.78924677
94regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.76991616
95positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.76991616
96spinal cord motor neuron differentiation (GO:0021522)2.76737547
97UDP-N-acetylglucosamine metabolic process (GO:0006047)2.76063105
98histone H3-K4 trimethylation (GO:0080182)2.74641441
99nucleobase biosynthetic process (GO:0046112)2.73062208
100negative regulation of DNA-dependent DNA replication (GO:2000104)2.71310468
101mitotic sister chromatid segregation (GO:0000070)2.70651178
102histone H3-K9 modification (GO:0061647)2.70004033
103DNA replication-independent nucleosome assembly (GO:0006336)2.69872663
104DNA replication-independent nucleosome organization (GO:0034724)2.69872663
105sister chromatid segregation (GO:0000819)2.68498461
106photoreceptor cell maintenance (GO:0045494)2.67593315
107regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.67576493
108* protein K48-linked deubiquitination (GO:0071108)2.67301411
109lipid translocation (GO:0034204)2.66809036
110phospholipid translocation (GO:0045332)2.66809036
111regulation of B cell differentiation (GO:0045577)2.65778841
112serotonin metabolic process (GO:0042428)2.65525002
113positive regulation of interferon-alpha production (GO:0032727)2.64641538
114replicative senescence (GO:0090399)2.64202697
115positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.62875410
116positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.62875410
117positive regulation of mitotic sister chromatid separation (GO:1901970)2.62875410
118G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.62495411
119embryonic axis specification (GO:0000578)2.62443914
120respiratory tube development (GO:0030323)2.60860279
121ribosome assembly (GO:0042255)2.60636812
122histone lysine methylation (GO:0034968)2.60501835
123gene silencing by RNA (GO:0031047)2.60406142
124membrane depolarization during action potential (GO:0086010)2.60202166
125regulation of nuclear cell cycle DNA replication (GO:0033262)2.59264564
126anterior/posterior axis specification, embryo (GO:0008595)2.59196957
127regulation of histone H3-K9 methylation (GO:0051570)2.59102067
128kinetochore organization (GO:0051383)2.58307396
129peptidyl-lysine methylation (GO:0018022)2.57812431
130IMP biosynthetic process (GO:0006188)2.56509597
131inner cell mass cell proliferation (GO:0001833)2.56474208
132negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.55466611
133regulation of mRNA catabolic process (GO:0061013)2.54718068
134neural tube formation (GO:0001841)2.54482918
135fucose catabolic process (GO:0019317)2.53649227
136L-fucose metabolic process (GO:0042354)2.53649227
137L-fucose catabolic process (GO:0042355)2.53649227
138endosome to melanosome transport (GO:0035646)2.53346248
139endosome to pigment granule transport (GO:0043485)2.53346248
140peptidyl-threonine dephosphorylation (GO:0035970)2.52544216
141DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.52368722
142peristalsis (GO:0030432)2.51820717
143flavonoid metabolic process (GO:0009812)2.51707994
144regulation of centrosome cycle (GO:0046605)2.51443859
145mitotic chromosome condensation (GO:0007076)2.50589054
146regulation of translational termination (GO:0006449)2.50100955
147histone-serine phosphorylation (GO:0035404)2.49439577
148oxidative demethylation (GO:0070989)2.49268391
149regulation of interferon-alpha production (GO:0032647)2.48791325
150fusion of sperm to egg plasma membrane (GO:0007342)2.48590273
151protein localization to chromosome (GO:0034502)2.48087192
152regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.47509115
153ribosome biogenesis (GO:0042254)2.47469234
154maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.47167504
155primary amino compound metabolic process (GO:1901160)2.45577178
156regulation of chromosome segregation (GO:0051983)2.45038003
157meiotic chromosome segregation (GO:0045132)2.44607389
158regulation of centriole replication (GO:0046599)2.44096501
159DNA geometric change (GO:0032392)2.44050485
160chromosome condensation (GO:0030261)2.43395764
161DNA damage response, signal transduction resulting in transcription (GO:0042772)2.43190042
162DNA unwinding involved in DNA replication (GO:0006268)2.42954593
163regulation of short-term neuronal synaptic plasticity (GO:0048172)2.42823269
164prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.42795195
165positive regulation of interferon-beta production (GO:0032728)2.42138020
166DNA replication initiation (GO:0006270)2.41948645
167microtubule depolymerization (GO:0007019)2.41900421
168negative regulation of protein localization to cell surface (GO:2000009)2.41817884
169DNA duplex unwinding (GO:0032508)2.41763832
170sister chromatid cohesion (GO:0007062)2.40704667
171defense response to protozoan (GO:0042832)2.40508457
172regulation of gamma-delta T cell differentiation (GO:0045586)2.39964175
173microtubule anchoring (GO:0034453)2.39933019
174cerebellar Purkinje cell differentiation (GO:0021702)2.39483065
175positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.39316641
176organ growth (GO:0035265)2.38844980
177dorsal/ventral axis specification (GO:0009950)2.38152740
178IMP metabolic process (GO:0046040)2.36871202
179pericardium development (GO:0060039)2.36823382
180positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)2.36591629
181positive regulation of cell cycle G2/M phase transition (GO:1902751)2.36591629
182nuclear envelope organization (GO:0006998)2.36550838
183regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.36338115
184regulation of mitotic spindle checkpoint (GO:1903504)2.36338115
185spindle checkpoint (GO:0031577)2.35503618
186ribosomal small subunit assembly (GO:0000028)2.35080628
187regulation of nucleobase-containing compound transport (GO:0032239)2.34954566
188neutrophil activation (GO:0042119)2.33915542
189regulation of B cell receptor signaling pathway (GO:0050855)2.33747933
190DNA replication-dependent nucleosome assembly (GO:0006335)2.33170035
191DNA replication-dependent nucleosome organization (GO:0034723)2.33170035
192replication fork processing (GO:0031297)2.33103137
193response to protozoan (GO:0001562)2.33060510
194chromatin assembly or disassembly (GO:0006333)2.32333719
195regulation of DNA endoreduplication (GO:0032875)2.32185947
196protein K6-linked ubiquitination (GO:0085020)2.31837878
197regulation of gamma-delta T cell activation (GO:0046643)2.31474550
198acrosome assembly (GO:0001675)2.31437587
199DNA packaging (GO:0006323)2.31372866
200sperm-egg recognition (GO:0035036)2.30928415

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.19396018
2EZH2_22144423_ChIP-Seq_EOC_Human4.24542249
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.03922952
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.25405212
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.20500376
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.11276912
7VDR_22108803_ChIP-Seq_LS180_Human3.10372496
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.07455450
9GBX2_23144817_ChIP-Seq_PC3_Human2.93302131
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.93259303
11ZNF274_21170338_ChIP-Seq_K562_Hela2.83241558
12IRF8_22096565_ChIP-ChIP_GC-B_Human2.78638563
13MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.75529799
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.64399393
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.44251723
16DROSHA_22980978_ChIP-Seq_HELA_Human2.40104999
17SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.27737552
18AR_21572438_ChIP-Seq_LNCaP_Human2.27115390
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.26016224
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.21375396
21POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.18701317
22TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.18701317
23IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.17411316
24* MYC_18555785_ChIP-Seq_MESCs_Mouse2.15974439
25SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.03037010
26IRF8_27001747_Chip-Seq_BMDM_Mouse2.00890162
27MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.99993180
28* STAT3_23295773_ChIP-Seq_U87_Human1.98478949
29AR_21909140_ChIP-Seq_LNCAP_Human1.95893550
30CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.94738253
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.92562599
32SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.91926647
33AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.91568373
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.86665988
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85701020
36* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.85365639
37E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.84112090
38FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.80416826
39NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.80328581
40P300_19829295_ChIP-Seq_ESCs_Human1.80239857
41SPI1_23547873_ChIP-Seq_NB4_Human1.74002193
42EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.73945363
43* TCF4_23295773_ChIP-Seq_U87_Human1.73868471
44E2F1_21310950_ChIP-Seq_MCF-7_Human1.73512919
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.72319537
46* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.71014907
47* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.70620061
48TP53_16413492_ChIP-PET_HCT116_Human1.66264899
49EWS_26573619_Chip-Seq_HEK293_Human1.65193554
50FLI1_27457419_Chip-Seq_LIVER_Mouse1.64678581
51* VDR_23849224_ChIP-Seq_CD4+_Human1.64063497
52TAF15_26573619_Chip-Seq_HEK293_Human1.63745662
53PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.62803807
54ER_23166858_ChIP-Seq_MCF-7_Human1.62349479
55SALL1_21062744_ChIP-ChIP_HESCs_Human1.61882406
56SMAD4_21799915_ChIP-Seq_A2780_Human1.61857921
57STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.60279994
58NELFA_20434984_ChIP-Seq_ESCs_Mouse1.57778058
59* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.57683243
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.56311925
61EST1_17652178_ChIP-ChIP_JURKAT_Human1.55802268
62AHR_22903824_ChIP-Seq_MCF-7_Human1.52879449
63PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.52145798
64FUS_26573619_Chip-Seq_HEK293_Human1.51920641
65MYC_22102868_ChIP-Seq_BL_Human1.50960233
66NR3C1_21868756_ChIP-Seq_MCF10A_Human1.48255992
67ELK1_19687146_ChIP-ChIP_HELA_Human1.47198078
68Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.46377970
69HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45194941
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45088369
71NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.44487620
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.44307337
73CREB1_15753290_ChIP-ChIP_HEK293T_Human1.44012750
74BRD4_27068464_Chip-Seq_AML-cells_Mouse1.43933432
75IGF1R_20145208_ChIP-Seq_DFB_Human1.43486396
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.42821774
77MYB_26560356_Chip-Seq_TH2_Human1.42050766
78MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.41874118
79ELF1_17652178_ChIP-ChIP_JURKAT_Human1.41655734
80MYB_26560356_Chip-Seq_TH1_Human1.41396025
81RXR_22108803_ChIP-Seq_LS180_Human1.40689900
82MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.40104917
83SMAD3_21741376_ChIP-Seq_EPCs_Human1.38959530
84* BCAT_22108803_ChIP-Seq_LS180_Human1.38367888
85* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38356731
86TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.38168637
87KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.38022932
88KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.38022932
89KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.38022932
90GABP_17652178_ChIP-ChIP_JURKAT_Human1.37893129
91REST_21632747_ChIP-Seq_MESCs_Mouse1.37038146
92ZNF217_24962896_ChIP-Seq_MCF-7_Human1.36397942
93SCL_19346495_ChIP-Seq_HPC-7_Human1.34842425
94IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.34603864
95FOXP3_21729870_ChIP-Seq_TREG_Human1.33839478
96CBP_20019798_ChIP-Seq_JUKART_Human1.32926338
97IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32926338
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.32658788
99SMAD3_21741376_ChIP-Seq_ESCs_Human1.31953042
100* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.31439568
101SMAD3_21741376_ChIP-Seq_HESCs_Human1.30937449
102ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.30288409
103SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.29674440
104AR_25329375_ChIP-Seq_VCAP_Human1.28961814
105SMAD4_21741376_ChIP-Seq_EPCs_Human1.28683806
106PRDM14_20953172_ChIP-Seq_ESCs_Human1.28545493
107PCGF2_27294783_Chip-Seq_ESCs_Mouse1.26952147
108RUNX1_22412390_ChIP-Seq_EML_Mouse1.26734913
109BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.25940744
110TCF4_22108803_ChIP-Seq_LS180_Human1.25913679
111SMAD4_21741376_ChIP-Seq_HESCs_Human1.25903166
112MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25724543
113STAT4_19710469_ChIP-ChIP_TH1__Mouse1.25371238
114* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.24216143
115STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.24187250
116* RUNX2_22187159_ChIP-Seq_PCA_Human1.24030096
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23789981
118TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.23244232
119FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22683541
120RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.21920464
121AR_19668381_ChIP-Seq_PC3_Human1.21882671
122EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.21483071
123POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.20359846
124* KDM5A_27292631_Chip-Seq_BREAST_Human1.20290687
125TOP2B_26459242_ChIP-Seq_MCF-7_Human1.20096355
126TP63_19390658_ChIP-ChIP_HaCaT_Human1.18506414
127CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.18258122
128NOTCH1_21737748_ChIP-Seq_TLL_Human1.17325881
129ETS1_20019798_ChIP-Seq_JURKAT_Human1.17179837
130CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.16945398
131ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16353243
132KDM2B_26808549_Chip-Seq_REH_Human1.16258233
133SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.15971779
134FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.15892116
135BMI1_23680149_ChIP-Seq_NPCS_Mouse1.15699145
136FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.15660834
137PCGF2_27294783_Chip-Seq_NPCs_Mouse1.14350912
138WDR5_24793694_ChIP-Seq_LNCAP_Human1.12384948
139KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.12203539
140CTNNB1_20460455_ChIP-Seq_HCT116_Human1.11828168
141SOX2_21211035_ChIP-Seq_LN229_Gbm1.10270248
142PADI4_21655091_ChIP-ChIP_MCF-7_Human1.10094616
143STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.09791311
144GATA1_22025678_ChIP-Seq_K562_Human1.09530876
145TBX3_20139965_ChIP-Seq_ESCs_Mouse1.08048527
146IRF1_19129219_ChIP-ChIP_H3396_Human1.07680755
147TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07593886
148TFEB_21752829_ChIP-Seq_HELA_Human1.07295736
149OCT1_27270436_Chip-Seq_PROSTATE_Human1.07294008
150FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.06452361
151GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06327137
152FLI1_21867929_ChIP-Seq_TH2_Mouse1.06224825
153BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.05530108
154RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.04328738
155MAF_26560356_Chip-Seq_TH1_Human1.03757522
156XRN2_22483619_ChIP-Seq_HELA_Human1.03424488
157* PU_27001747_Chip-Seq_BMDM_Mouse1.03357888
158KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02368718
159NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02112843
160JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.02085991
161STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01254487
162MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99296717
163KLF4_18555785_ChIP-Seq_MESCs_Mouse0.99193354
164GATA1_26923725_Chip-Seq_HPCs_Mouse0.98538572
165P53_22127205_ChIP-Seq_FIBROBLAST_Human0.97796799
166FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96735376
167RNF2_27304074_Chip-Seq_NSC_Mouse0.96380332
168BP1_19119308_ChIP-ChIP_Hs578T_Human0.96363052
169VDR_21846776_ChIP-Seq_THP-1_Human0.96317085
170TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.95635082
171NANOG_18555785_ChIP-Seq_MESCs_Mouse0.95163568
172STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.94948647
173EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.94204181
174CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.92938544
175PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92902781
176TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92795171
177GATA3_27048872_Chip-Seq_THYMUS_Human0.91964792
178* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.91674153
179* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91447457
180JARID2_20075857_ChIP-Seq_MESCs_Mouse0.90859029
181CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89397883
182POU5F1_16153702_ChIP-ChIP_HESCs_Human0.89070453
183* SOX2_19829295_ChIP-Seq_ESCs_Human0.89056920
184* NANOG_19829295_ChIP-Seq_ESCs_Human0.89056920
185MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.88682522
186EGR1_23403033_ChIP-Seq_LIVER_Mouse0.88681516
187GABP_19822575_ChIP-Seq_HepG2_Human0.85072208
188RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.84963104
189E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.84100904
190POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.82673055
191* UTX_26944678_Chip-Seq_JUKART_Human0.82507684
192DCP1A_22483619_ChIP-Seq_HELA_Human0.81050877
193CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80176038
194* GATA3_26560356_Chip-Seq_TH2_Human0.79569525
195GATA1_22383799_ChIP-Seq_G1ME_Mouse0.78987062

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication3.34745761
2MP0003646_muscle_fatigue3.32557969
3MP0003890_abnormal_embryonic-extraembry3.12024807
4MP0001835_abnormal_antigen_presentation3.06886948
5MP0010094_abnormal_chromosome_stability3.02160110
6MP0003195_calcinosis2.96919421
7MP0002396_abnormal_hematopoietic_system2.79346417
8MP0003111_abnormal_nucleus_morphology2.66102256
9MP0010307_abnormal_tumor_latency2.63343539
10MP0003878_abnormal_ear_physiology2.60103394
11MP0005377_hearing/vestibular/ear_phenot2.60103394
12MP0003693_abnormal_embryo_hatching2.48745647
13MP0009046_muscle_twitch2.47585398
14MP0003136_yellow_coat_color2.43700649
15MP0001501_abnormal_sleep_pattern2.43329533
16MP0003436_decreased_susceptibility_to2.39742566
17MP0001485_abnormal_pinna_reflex2.37284629
18MP0003077_abnormal_cell_cycle2.34316979
19MP0005670_abnormal_white_adipose2.31783937
20MP0004043_abnormal_pH_regulation2.26464739
21MP0004957_abnormal_blastocyst_morpholog2.24112778
22MP0010352_gastrointestinal_tract_polyps2.16425683
23MP0005671_abnormal_response_to2.05460901
24MP0005397_hematopoietic_system_phenotyp2.04795213
25MP0001545_abnormal_hematopoietic_system2.04795213
26MP0002254_reproductive_system_inflammat2.01114709
27MP0003119_abnormal_digestive_system2.00035965
28MP0008007_abnormal_cellular_replicative1.93564625
29MP0008961_abnormal_basal_metabolism1.92461241
30MP0001800_abnormal_humoral_immune1.92080896
31MP0008058_abnormal_DNA_repair1.89742735
32MP0002452_abnormal_antigen_presenting1.87859798
33MP0002419_abnormal_innate_immunity1.86704012
34MP0002166_altered_tumor_susceptibility1.83905758
35MP0004808_abnormal_hematopoietic_stem1.82067928
36MP0009785_altered_susceptibility_to1.79547410
37MP0004133_heterotaxia1.77268178
38MP0002735_abnormal_chemical_nociception1.76136674
39MP0005551_abnormal_eye_electrophysiolog1.75717774
40MP0005000_abnormal_immune_tolerance1.75386822
41MP0002398_abnormal_bone_marrow1.74767107
42MP0005025_abnormal_response_to1.73497654
43MP0005464_abnormal_platelet_physiology1.72208392
44MP0005410_abnormal_fertilization1.71937242
45MP0002006_tumorigenesis1.71691394
46MP0002723_abnormal_immune_serum1.68395918
47MP0004130_abnormal_muscle_cell1.67425825
48MP0002420_abnormal_adaptive_immunity1.66778201
49MP0009745_abnormal_behavioral_response1.66695825
50MP0001819_abnormal_immune_cell1.66374592
51MP0002148_abnormal_hypersensitivity_rea1.63838160
52MP0000685_abnormal_immune_system1.60931657
53MP0005058_abnormal_lysosome_morphology1.58992271
54MP0003937_abnormal_limbs/digits/tail_de1.58131822
55MP0008872_abnormal_physiological_respon1.56621361
56MP0000689_abnormal_spleen_morphology1.55608151
57MP0001853_heart_inflammation1.54472670
58MP0003303_peritoneal_inflammation1.53716733
59MP0001968_abnormal_touch/_nociception1.53255304
60MP0000716_abnormal_immune_system1.51280531
61MP0000383_abnormal_hair_follicle1.50143567
62MP0001790_abnormal_immune_system1.49276745
63MP0005387_immune_system_phenotype1.49276745
64MP0001486_abnormal_startle_reflex1.47942908
65MP0002722_abnormal_immune_system1.44658243
66MP0003763_abnormal_thymus_physiology1.43900524
67MP0004145_abnormal_muscle_electrophysio1.41362326
68MP0002009_preneoplasia1.41303995
69MP0005076_abnormal_cell_differentiation1.38276765
70MP0002429_abnormal_blood_cell1.38087526
71MP0006082_CNS_inflammation1.37367160
72MP0004142_abnormal_muscle_tone1.36871222
73MP0000350_abnormal_cell_proliferation1.36717375
74MP0000465_gastrointestinal_hemorrhage1.36232271
75MP0000490_abnormal_crypts_of1.35353565
76MP0006276_abnormal_autonomic_nervous1.35346448
77MP0002405_respiratory_system_inflammati1.34614280
78MP0002733_abnormal_thermal_nociception1.31664662
79MP0008877_abnormal_DNA_methylation1.31168713
80MP0006292_abnormal_olfactory_placode1.30926655
81MP0005646_abnormal_pituitary_gland1.29907330
82MP0001730_embryonic_growth_arrest1.28593819
83MP0004947_skin_inflammation1.26605169
84MP0002019_abnormal_tumor_incidence1.23801018
85MP0000631_abnormal_neuroendocrine_gland1.23787842
86MP0002067_abnormal_sensory_capabilities1.23770545
87MP0009333_abnormal_splenocyte_physiolog1.23408682
88MP0010155_abnormal_intestine_physiology1.20228057
89MP0001845_abnormal_inflammatory_respons1.19838749
90MP0005075_abnormal_melanosome_morpholog1.17297942
91MP0005645_abnormal_hypothalamus_physiol1.17124576
92MP0000470_abnormal_stomach_morphology1.13466905
93MP0002272_abnormal_nervous_system1.12830478
94MP0009840_abnormal_foam_cell1.12788023
95MP0000569_abnormal_digit_pigmentation1.12588197
96MP0002736_abnormal_nociception_after1.11593813
97MP0001970_abnormal_pain_threshold1.10411969
98MP0001440_abnormal_grooming_behavior1.09755253
99MP0002653_abnormal_ependyma_morphology1.09734430
100MP0001929_abnormal_gametogenesis1.09552750
101MP0000703_abnormal_thymus_morphology1.09333303
102MP0003045_fibrosis1.08671892
103MP0003941_abnormal_skin_development1.08441543
104MP0002064_seizures1.07117690
105MP0003191_abnormal_cellular_cholesterol1.07093725
106MP0010234_abnormal_vibrissa_follicle1.07025216
107MP0003786_premature_aging1.06565049
108MP0002557_abnormal_social/conspecific_i1.06251404
109MP0008260_abnormal_autophagy1.05906176
110MP0000427_abnormal_hair_cycle1.05505793
111MP0003566_abnormal_cell_adhesion1.05406128
112MP0000313_abnormal_cell_death1.04934679
113MP0003448_altered_tumor_morphology1.04653564
114MP0003635_abnormal_synaptic_transmissio1.03988877
115MP0002138_abnormal_hepatobiliary_system1.01724143
116MP0002938_white_spotting1.01551856
117MP0003806_abnormal_nucleotide_metabolis1.01228268
118MP0002877_abnormal_melanocyte_morpholog1.00398710
119MP0003656_abnormal_erythrocyte_physiolo0.99900244
120MP0005395_other_phenotype0.98939580
121* MP0002572_abnormal_emotion/affect_behav0.98354429
122MP0009278_abnormal_bone_marrow0.97671854
123MP0000371_diluted_coat_color0.97511462
124MP0003705_abnormal_hypodermis_morpholog0.97062348
125MP0009053_abnormal_anal_canal0.96316517
126MP0002086_abnormal_extraembryonic_tissu0.95244946
127MP0008770_decreased_survivor_rate0.94858029
128MP0000230_abnormal_systemic_arterial0.94797053
129MP0003787_abnormal_imprinting0.94673535
130MP0000858_altered_metastatic_potential0.94471792
131MP0003698_abnormal_male_reproductive0.94233069
132MP0008469_abnormal_protein_level0.92963761
133MP0001672_abnormal_embryogenesis/_devel0.92087859
134MP0005380_embryogenesis_phenotype0.92087859
135MP0003984_embryonic_growth_retardation0.90332106
136MP0005621_abnormal_cell_physiology0.89539667
137MP0001873_stomach_inflammation0.88895659
138MP0005266_abnormal_metabolism0.88369793
139MP0005174_abnormal_tail_pigmentation0.88219841
140MP0002088_abnormal_embryonic_growth/wei0.88185395
141MP0005310_abnormal_salivary_gland0.87741844
142MP0005253_abnormal_eye_physiology0.87633185
143MP0005083_abnormal_biliary_tract0.86565896
144MP0004742_abnormal_vestibular_system0.86543631
145MP0003724_increased_susceptibility_to0.86232582
146MP0005167_abnormal_blood-brain_barrier0.85316289
147MP0002095_abnormal_skin_pigmentation0.84947989
148MP0000538_abnormal_urinary_bladder0.84696847
149MP0003861_abnormal_nervous_system0.84360049
150MP0003172_abnormal_lysosome_physiology0.84058081
151MP0005408_hypopigmentation0.83456274
152MP0003718_maternal_effect0.83423645
153MP0003186_abnormal_redox_activity0.83357750
154MP0005647_abnormal_sex_gland0.83142359
155MP0002210_abnormal_sex_determination0.82426086
156MP0002734_abnormal_mechanical_nocicepti0.81691989
157MP0004147_increased_porphyrin_level0.79507386
158MP0001764_abnormal_homeostasis0.79421536
159MP0009697_abnormal_copulation0.79255599
160MP0008932_abnormal_embryonic_tissue0.79173304
161MP0002928_abnormal_bile_duct0.79074219
162MP0003950_abnormal_plasma_membrane0.78656731
163MP0002080_prenatal_lethality0.78644804
164MP0001188_hyperpigmentation0.78348670
165MP0004885_abnormal_endolymph0.78092387
166MP0001533_abnormal_skeleton_physiology0.78091507
167MP0001145_abnormal_male_reproductive0.77406690
168MP0009115_abnormal_fat_cell0.75253467
169MP0004197_abnormal_fetal_growth/weight/0.74884458
170MP0001963_abnormal_hearing_physiology0.74342390
171MP0000428_abnormal_craniofacial_morphol0.73992529
172MP0003879_abnormal_hair_cell0.73968827
173MP0003632_abnormal_nervous_system0.73298187
174MP0003137_abnormal_impulse_conducting0.72409170
175MP0004924_abnormal_behavior0.71120066
176MP0005386_behavior/neurological_phenoty0.71120066
177MP0002168_other_aberrant_phenotype0.70782494
178MP0000049_abnormal_middle_ear0.70715532
179MP0002752_abnormal_somatic_nervous0.69884163
180MP0002229_neurodegeneration0.69803558
181MP0003567_abnormal_fetal_cardiomyocyte0.69475699
182* MP0002063_abnormal_learning/memory/cond0.69370019
183MP0005448_abnormal_energy_balance0.67372984
184MP0005195_abnormal_posterior_eye0.67333131
185MP0002152_abnormal_brain_morphology0.67245452
186MP0000955_abnormal_spinal_cord0.66418913
187MP0001986_abnormal_taste_sensitivity0.65275118

Predicted human phenotypes

RankGene SetZ-score
1Clumsiness (HP:0002312)4.20885345
2* Genetic anticipation (HP:0003743)4.05110072
3Protruding tongue (HP:0010808)4.02673374
4Recurrent abscess formation (HP:0002722)3.95811621
5Recurrent bacterial skin infections (HP:0005406)3.88201223
6Agnosia (HP:0010524)3.57364341
7Hyperventilation (HP:0002883)3.42537086
8Myositis (HP:0100614)3.40169486
9Pancreatic cysts (HP:0001737)3.37189311
10Eczematoid dermatitis (HP:0000976)3.23812446
11Chronic otitis media (HP:0000389)3.23507167
12Recurrent gram-negative bacterial infections (HP:0005420)3.16300191
13Recurrent viral infections (HP:0004429)3.12940682
14Impulsivity (HP:0100710)3.03919568
15Birth length less than 3rd percentile (HP:0003561)3.03620087
16Thrombocytosis (HP:0001894)3.02769788
17Congenital stationary night blindness (HP:0007642)2.96910466
18Cutaneous melanoma (HP:0012056)2.94266522
19Pancreatic fibrosis (HP:0100732)2.91270285
20Chronic hepatic failure (HP:0100626)2.91134898
21Patellar aplasia (HP:0006443)2.90941464
22Pustule (HP:0200039)2.89724217
23Autoimmune thrombocytopenia (HP:0001973)2.86588175
24Optic neuritis (HP:0100653)2.85919033
25Retrobulbar optic neuritis (HP:0100654)2.85919033
26* Gaze-evoked nystagmus (HP:0000640)2.84369451
27Disinhibition (HP:0000734)2.83402430
28* Progressive cerebellar ataxia (HP:0002073)2.83362308
29Prostate neoplasm (HP:0100787)2.80912351
30Ectopic kidney (HP:0000086)2.79605646
31Acute myeloid leukemia (HP:0004808)2.76056536
32Abnormality of macrophages (HP:0004311)2.73609420
33True hermaphroditism (HP:0010459)2.66366998
34Attenuation of retinal blood vessels (HP:0007843)2.66129742
35Keratoconjunctivitis sicca (HP:0001097)2.65610732
36Recurrent fungal infections (HP:0002841)2.63165235
37Aplasia/Hypoplasia of the patella (HP:0006498)2.62823221
38Mediastinal lymphadenopathy (HP:0100721)2.62165582
39Orchitis (HP:0100796)2.60147463
40Amaurosis fugax (HP:0100576)2.58058785
41Abnormality of midbrain morphology (HP:0002418)2.57786577
42Molar tooth sign on MRI (HP:0002419)2.57786577
43Nephronophthisis (HP:0000090)2.56693704
44Absent radius (HP:0003974)2.56026007
45Chromsome breakage (HP:0040012)2.55468093
46Myelodysplasia (HP:0002863)2.55035336
47Abnormality of the prostate (HP:0008775)2.54845245
48Broad-based gait (HP:0002136)2.53064086
49Cystic liver disease (HP:0006706)2.52780914
50Hypochromic anemia (HP:0001931)2.51151763
51Hypoplastic ischia (HP:0003175)2.50793970
52Abnormal spermatogenesis (HP:0008669)2.50412047
53Abnormality of the fingertips (HP:0001211)2.47628979
54Abnormality of the renal medulla (HP:0100957)2.45193713
55Aplasia involving forearm bones (HP:0009822)2.44760841
56Absent forearm bone (HP:0003953)2.44760841
57Duplicated collecting system (HP:0000081)2.43340781
58Osteolytic defects of the hand bones (HP:0009699)2.42564465
59Osteolytic defects of the phalanges of the hand (HP:0009771)2.42564465
60Hypoplasia of the pons (HP:0012110)2.41787788
61Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.40897164
62Abnormality of the renal collecting system (HP:0004742)2.40828058
63Aplasia/Hypoplasia of the tibia (HP:0005772)2.40566650
64Encephalitis (HP:0002383)2.39292093
65Upper motor neuron abnormality (HP:0002127)2.38203429
66Preaxial foot polydactyly (HP:0001841)2.37810538
67Increased cerebral lipofuscin (HP:0011813)2.37603824
68Increased neuronal autofluorescent lipopigment (HP:0002074)2.37559449
69IgM deficiency (HP:0002850)2.37245756
70Recurrent skin infections (HP:0001581)2.35355220
71Abnormality of the ischium (HP:0003174)2.34552335
72Keratoconjunctivitis (HP:0001096)2.34390831
73Volvulus (HP:0002580)2.34136222
74Arterial thrombosis (HP:0004420)2.31873960
75Abnormality of chromosome stability (HP:0003220)2.31519163
76Syringomyelia (HP:0003396)2.31095895
77Spinal cord lesions (HP:0100561)2.31095895
78Cellulitis (HP:0100658)2.29919012
79Abnormality of the pons (HP:0007361)2.28645426
80Fair hair (HP:0002286)2.27306557
81Elevated erythrocyte sedimentation rate (HP:0003565)2.24303031
82Abnormality of the pubic bones (HP:0003172)2.23887858
83Lymphoma (HP:0002665)2.22037383
84Abnormality of the nasal septum (HP:0000419)2.21290629
85Inability to walk (HP:0002540)2.21159342
86Decreased circulating renin level (HP:0003351)2.20236032
87Hypochromic microcytic anemia (HP:0004840)2.19197895
88Abolished electroretinogram (ERG) (HP:0000550)2.18519124
89Febrile seizures (HP:0002373)2.18409775
90Nasal polyposis (HP:0100582)2.18293261
91Tubular atrophy (HP:0000092)2.18001135
92Chromosomal breakage induced by crosslinking agents (HP:0003221)2.17266521
93Hypoplastic labia majora (HP:0000059)2.16689776
94Recurrent bronchitis (HP:0002837)2.15120020
95Prominent nose (HP:0000448)2.14438112
96Vasculitis (HP:0002633)2.12801379
97Depressed nasal tip (HP:0000437)2.11919134
98Bony spicule pigmentary retinopathy (HP:0007737)2.11186092
99Abnormality of the vasculature of the conjunctiva (HP:0008054)2.08975287
100Abnormality of the renal cortex (HP:0011035)2.08688677
101Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.08135541
102Abnormality of alanine metabolism (HP:0010916)2.08135541
103Hyperalaninemia (HP:0003348)2.08135541
104Personality changes (HP:0000751)2.07872233
105Abnormality of the labia majora (HP:0012881)2.07857309
106Chronic obstructive pulmonary disease (HP:0006510)2.05612502
107Obstructive lung disease (HP:0006536)2.05612502
108Gangrene (HP:0100758)2.05103884
109Bronchomalacia (HP:0002780)2.04418157
110Anorexia (HP:0002039)2.04114655
111Abnormality of T cell number (HP:0011839)2.01713030
112Large for gestational age (HP:0001520)2.00658518
113Bilateral microphthalmos (HP:0007633)2.00227333
114Abnormality of T cell physiology (HP:0011840)1.98742480
115Sclerocornea (HP:0000647)1.98610892
116Hyperkalemia (HP:0002153)1.98315321
117Abnormal platelet volume (HP:0011876)1.98166835
118Hematochezia (HP:0002573)1.97530691
119Eosinophilia (HP:0001880)1.96928193
120Panhypogammaglobulinemia (HP:0003139)1.96869141
121Gastrointestinal infarctions (HP:0005244)1.96140044
122Dialeptic seizures (HP:0011146)1.96116475
123Bone marrow hypocellularity (HP:0005528)1.96085041
124Entropion (HP:0000621)1.95748100
125Conjunctival telangiectasia (HP:0000524)1.95426136
126Stomach cancer (HP:0012126)1.95295362
127Petechiae (HP:0000967)1.95066603
128Osteomyelitis (HP:0002754)1.94987473
129Progressive inability to walk (HP:0002505)1.94146741
130Blepharitis (HP:0000498)1.93359039
131Abnormality of T cells (HP:0002843)1.93062380
132Gingival bleeding (HP:0000225)1.92719610
133Cupped ear (HP:0000378)1.92337798
134Short hallux (HP:0010109)1.92150491
135Ascites (HP:0001541)1.92016780
136Anencephaly (HP:0002323)1.91916435
137Spontaneous hematomas (HP:0007420)1.91769816
138Meningitis (HP:0001287)1.91628699
139Abnormality of DNA repair (HP:0003254)1.91598540
140Abnormality of the anterior horn cell (HP:0006802)1.91386056
141Degeneration of anterior horn cells (HP:0002398)1.91386056
142Partial agenesis of the corpus callosum (HP:0001338)1.90521668
143Increased mean platelet volume (HP:0011877)1.90252134
144Aplasia/Hypoplasia of the sternum (HP:0006714)1.90138569
145Abnormal delayed hypersensitivity skin test (HP:0002963)1.89942623
146Absent frontal sinuses (HP:0002688)1.89465583
147Interstitial pulmonary disease (HP:0006530)1.89410582
148Clubbing of toes (HP:0100760)1.88951096
149T lymphocytopenia (HP:0005403)1.88110788
150Myocardial infarction (HP:0001658)1.87751460
151Lip pit (HP:0100267)1.87257984
152IgG deficiency (HP:0004315)1.87237610
153IgA deficiency (HP:0002720)1.86962005
154Small hand (HP:0200055)1.86826521
155Periodontitis (HP:0000704)1.86355878
156Aplasia/Hypoplasia of the uvula (HP:0010293)1.86165712
157Abnormality of the nasal mucosa (HP:0000433)1.85861890
158Intestinal fistula (HP:0100819)1.85658704
159Long eyelashes (HP:0000527)1.85545494
160Azoospermia (HP:0000027)1.85297093
161Pendular nystagmus (HP:0012043)1.85052809
162Highly arched eyebrow (HP:0002553)1.84375120
163Acanthocytosis (HP:0001927)1.82293567
164Congenital sensorineural hearing impairment (HP:0008527)1.82115613
165Furrowed tongue (HP:0000221)1.81921868
166Leukocytosis (HP:0001974)1.81537752
167Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.80059117
168Hepatosplenomegaly (HP:0001433)1.78203988
169Central scotoma (HP:0000603)1.78170344
170Albinism (HP:0001022)1.77922466
171Granulocytopenia (HP:0001913)1.77470497
172Leukopenia (HP:0001882)1.76102986
173Acute lymphatic leukemia (HP:0006721)1.75860237
174Tracheomalacia (HP:0002779)1.75723897
175Decreased central vision (HP:0007663)1.75600151
176Homocystinuria (HP:0002156)1.74573075
177Abnormality of homocysteine metabolism (HP:0010919)1.74573075
178Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.74210807
179Basal cell carcinoma (HP:0002671)1.74182099
180Widely spaced teeth (HP:0000687)1.73954170
181Cortical dysplasia (HP:0002539)1.73385837
182Chorioretinal atrophy (HP:0000533)1.72618996
183Cerebellar dysplasia (HP:0007033)1.72080607
184Poor coordination (HP:0002370)1.71036786
185Aplasia/Hypoplasia of the hallux (HP:0008362)1.70533917
186Abnormality of the columella (HP:0009929)1.67932712
187Congenital hepatic fibrosis (HP:0002612)1.67883193
188Truncal obesity (HP:0001956)1.67877617
189Abnormality of the labia minora (HP:0012880)1.67647658
190Macroglossia (HP:0000158)1.67571474
191Sloping forehead (HP:0000340)1.67277952
192Focal seizures (HP:0007359)1.66506194
193Abnormal drinking behavior (HP:0030082)1.66358031

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B3.38835738
2WEE12.69257085
3INSRR2.66978193
4MAP4K12.62364778
5CAMK1D2.50832104
6NEK22.32823620
7MAP3K142.31220509
8CAMK1G2.28749814
9PLK42.24030005
10CDC72.22317011
11PDK32.17372006
12PDK42.17372006
13BUB12.16226701
14BRSK22.07698148
15SCYL21.99029524
16EIF2AK11.97955736
17RIPK41.96013184
18STK31.93236512
19ADRBK21.89328647
20PIM11.88414568
21PIM21.87100046
22CDK121.78437284
23STK101.77251203
24TYK21.76510061
25SRPK11.64952038
26KIT1.63080797
27BRD41.61561571
28TNIK1.61119424
29TTK1.60296624
30JAK31.55819544
31STK41.54835067
32EEF2K1.54283206
33CLK11.54063519
34GRK11.52415927
35STK38L1.51687832
36NEK11.49192339
37TXK1.39591494
38CDK41.33803386
39CSF1R1.33112424
40PDK21.32378723
41TSSK61.31698037
42ACVR1B1.29238462
43TRPM71.24802560
44PLK11.23635147
45NTRK31.22812558
46CDK61.21915229
47IKBKB1.19262933
48CASK1.19252488
49MKNK11.18346924
50ATR1.18241541
51RPS6KB21.17959567
52PBK1.16287967
53TBK11.16196717
54SIK21.14912256
55WNK11.14350747
56OXSR11.13777906
57NLK1.13429856
58TAOK31.12559157
59MARK31.11201479
60PLK31.10922913
61NUAK11.09028409
62AURKB1.08573014
63EIF2AK31.07552450
64NME21.07426170
65SGK21.05793281
66ADRBK11.05395432
67AKT31.05391977
68FLT31.03064997
69TEC1.02091770
70MAP3K71.01799786
71CHEK21.00776030
72TAF10.98399818
73DAPK20.97966037
74MAP3K80.97475808
75CHUK0.96616984
76FGFR20.95776470
77WNK40.95675793
78ZAK0.95120357
79NEK90.93195842
80CHEK10.92949616
81ZAP700.87291612
82PNCK0.87155539
83SYK0.87011111
84BTK0.86379102
85IRAK40.85578649
86RAF10.85157551
87MAP2K30.85069962
88TGFBR20.78199062
89RPS6KA40.77606459
90WNK30.77471746
91MAP3K130.77365886
92SGK4940.77186540
93SGK2230.77186540
94ALK0.76891831
95PRKAA20.76431783
96ATM0.76299746
97MAP3K40.75015697
98YES10.74977488
99GRK60.73783628
100IRAK30.72360561
101LCK0.71590743
102CAMK10.70490945
103PAK40.70423910
104LATS10.69131928
105MTOR0.68402053
106CSK0.68379689
107CDK70.67986621
108TNK20.67451588
109CAMK40.67100515
110FGFR30.67005462
111PTK2B0.66671909
112JAK10.66437703
113MKNK20.65737193
114MARK20.64481243
115PRKAA10.63709229
116LYN0.62972376
117MATK0.62906733
118HCK0.62853439
119MST40.62752469
120LRRK20.62492212
121PIK3CG0.62422497
122STK380.62373163
123PIK3CA0.60698768
124ITK0.60662941
125MAPK150.60302760
126BRSK10.59838323
127TGFBR10.59634499
128STK110.59560354
129PRKCH0.58825928
130TLK10.57415098
131IKBKE0.56590214
132JAK20.56323545
133TESK10.56296544
134ERBB20.55925278
135STK390.55882371
136PKN20.55839934
137PRKCE0.54615689
138CDC42BPA0.54545729
139TYRO30.54447799
140RPS6KA60.53852819
141PRKCG0.52976869
142CDK20.52828170
143MAP3K100.51622878
144DYRK30.51583638
145SGK10.48728781
146ABL10.48325260
147MAP3K30.48199389
148MELK0.47916583
149EIF2AK20.47572701
150FRK0.46913368
151MAPK130.46674268
152SGK30.41104001
153PAK30.39211020
154* GSK3B0.39176302
155AKT10.38909907
156CDK190.38202675
157BMX0.37054274
158CAMKK10.36901442
159CSNK1D0.36859920
160BLK0.36731708
161PDGFRB0.33435272
162CDK10.33011400
163MAPK80.32725558
164DYRK1A0.31191249
165MAPK10.30963648
166FGFR10.29276885
167ICK0.29143931
168RPS6KA30.28206870
169ERBB40.27997764

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.07558676
2Nicotine addiction_Homo sapiens_hsa050332.94960270
3DNA replication_Homo sapiens_hsa030302.68400186
4Vitamin B6 metabolism_Homo sapiens_hsa007502.61839521
5Lysine degradation_Homo sapiens_hsa003102.61371215
6Taste transduction_Homo sapiens_hsa047422.42077240
7Mismatch repair_Homo sapiens_hsa034302.24383068
8RNA transport_Homo sapiens_hsa030132.20466968
9ABC transporters_Homo sapiens_hsa020102.12635857
10Cell cycle_Homo sapiens_hsa041102.04996974
11Phototransduction_Homo sapiens_hsa047442.04700553
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.04383452
13Linoleic acid metabolism_Homo sapiens_hsa005912.04260723
14Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.97742167
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.89459483
16NF-kappa B signaling pathway_Homo sapiens_hsa040641.85476957
17Morphine addiction_Homo sapiens_hsa050321.85313467
18Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.83745568
19Nitrogen metabolism_Homo sapiens_hsa009101.81171517
20Homologous recombination_Homo sapiens_hsa034401.76996157
21NOD-like receptor signaling pathway_Homo sapiens_hsa046211.76738438
22One carbon pool by folate_Homo sapiens_hsa006701.73721146
23Tryptophan metabolism_Homo sapiens_hsa003801.72967419
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.70784294
25Antigen processing and presentation_Homo sapiens_hsa046121.69165320
26Leishmaniasis_Homo sapiens_hsa051401.69160491
27Glutamatergic synapse_Homo sapiens_hsa047241.67494772
28Spliceosome_Homo sapiens_hsa030401.64822531
29RNA polymerase_Homo sapiens_hsa030201.63750786
30Staphylococcus aureus infection_Homo sapiens_hsa051501.61778168
31Butanoate metabolism_Homo sapiens_hsa006501.59551140
32Legionellosis_Homo sapiens_hsa051341.55808051
33Non-homologous end-joining_Homo sapiens_hsa034501.55569925
34p53 signaling pathway_Homo sapiens_hsa041151.54396396
35Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.53683375
36Pentose phosphate pathway_Homo sapiens_hsa000301.53466740
37Herpes simplex infection_Homo sapiens_hsa051681.52067306
38Serotonergic synapse_Homo sapiens_hsa047261.50305274
39Fanconi anemia pathway_Homo sapiens_hsa034601.50131961
40Measles_Homo sapiens_hsa051621.49215584
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.45893485
42Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.45463531
43Toll-like receptor signaling pathway_Homo sapiens_hsa046201.41457423
44GABAergic synapse_Homo sapiens_hsa047271.40479608
45Circadian entrainment_Homo sapiens_hsa047131.39667248
46Calcium signaling pathway_Homo sapiens_hsa040201.39205177
47Base excision repair_Homo sapiens_hsa034101.38207330
48B cell receptor signaling pathway_Homo sapiens_hsa046621.37954353
49Ether lipid metabolism_Homo sapiens_hsa005651.37570300
50Vascular smooth muscle contraction_Homo sapiens_hsa042701.36743339
51Dorso-ventral axis formation_Homo sapiens_hsa043201.36333848
52Proteasome_Homo sapiens_hsa030501.33472503
53Nucleotide excision repair_Homo sapiens_hsa034201.32759652
54Allograft rejection_Homo sapiens_hsa053301.31475684
55Epstein-Barr virus infection_Homo sapiens_hsa051691.28650520
56Influenza A_Homo sapiens_hsa051641.28511675
57Systemic lupus erythematosus_Homo sapiens_hsa053221.28421300
58Intestinal immune network for IgA production_Homo sapiens_hsa046721.28208487
59Olfactory transduction_Homo sapiens_hsa047401.24752590
60RNA degradation_Homo sapiens_hsa030181.23026453
61Basal transcription factors_Homo sapiens_hsa030221.22056513
62Graft-versus-host disease_Homo sapiens_hsa053321.19589716
63Histidine metabolism_Homo sapiens_hsa003401.16663026
64mRNA surveillance pathway_Homo sapiens_hsa030151.16554520
65Glycerolipid metabolism_Homo sapiens_hsa005611.16076286
66Primary immunodeficiency_Homo sapiens_hsa053401.15092204
67Viral carcinogenesis_Homo sapiens_hsa052031.15038561
68Insulin secretion_Homo sapiens_hsa049111.14543380
69Ovarian steroidogenesis_Homo sapiens_hsa049131.13767714
70Type II diabetes mellitus_Homo sapiens_hsa049301.11796072
71RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.11694477
72Cholinergic synapse_Homo sapiens_hsa047251.11212170
73Osteoclast differentiation_Homo sapiens_hsa043801.10315084
74Pertussis_Homo sapiens_hsa051331.09035318
75Selenocompound metabolism_Homo sapiens_hsa004501.06430943
76Apoptosis_Homo sapiens_hsa042101.05817978
77Pyrimidine metabolism_Homo sapiens_hsa002401.05769611
78Hematopoietic cell lineage_Homo sapiens_hsa046401.05131615
79Steroid hormone biosynthesis_Homo sapiens_hsa001401.04526550
80Tuberculosis_Homo sapiens_hsa051521.03825557
81Primary bile acid biosynthesis_Homo sapiens_hsa001201.03475452
82Long-term depression_Homo sapiens_hsa047301.01524546
83Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.01041038
84Hepatitis B_Homo sapiens_hsa051610.98806966
85Toxoplasmosis_Homo sapiens_hsa051450.95714014
86Gastric acid secretion_Homo sapiens_hsa049710.94273155
87Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.91628348
88Salivary secretion_Homo sapiens_hsa049700.91601038
89Oxytocin signaling pathway_Homo sapiens_hsa049210.91389066
90Retinol metabolism_Homo sapiens_hsa008300.89654506
91Aldosterone synthesis and secretion_Homo sapiens_hsa049250.89201848
92Malaria_Homo sapiens_hsa051440.89173466
93Shigellosis_Homo sapiens_hsa051310.86028088
94Acute myeloid leukemia_Homo sapiens_hsa052210.85546760
95Basal cell carcinoma_Homo sapiens_hsa052170.85043391
96Small cell lung cancer_Homo sapiens_hsa052220.84582032
97Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.84265370
98cAMP signaling pathway_Homo sapiens_hsa040240.83860838
99Maturity onset diabetes of the young_Homo sapiens_hsa049500.83345405
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.82624016
101Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.82326350
102Transcriptional misregulation in cancer_Homo sapiens_hsa052020.80501867
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.79892357
104Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.79134135
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.78592384
106TNF signaling pathway_Homo sapiens_hsa046680.78214192
107beta-Alanine metabolism_Homo sapiens_hsa004100.78100677
108Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.77676724
109Lysosome_Homo sapiens_hsa041420.77546649
110Chronic myeloid leukemia_Homo sapiens_hsa052200.76770614
111Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.75639571
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74228318
113Hippo signaling pathway_Homo sapiens_hsa043900.74028841
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.71536123
115Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.70859381
116Thyroid cancer_Homo sapiens_hsa052160.70815083
117Leukocyte transendothelial migration_Homo sapiens_hsa046700.70033269
118Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.69478085
119Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.68465201
120MicroRNAs in cancer_Homo sapiens_hsa052060.67575273
121Chemical carcinogenesis_Homo sapiens_hsa052040.66942601
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.66033316
123Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65814338
124cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65306307
125Circadian rhythm_Homo sapiens_hsa047100.65150575
126Drug metabolism - other enzymes_Homo sapiens_hsa009830.64964975
127TGF-beta signaling pathway_Homo sapiens_hsa043500.64869979
128Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.64673936
129Caffeine metabolism_Homo sapiens_hsa002320.63994789
130Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.63099153
131Glycerophospholipid metabolism_Homo sapiens_hsa005640.63079897
132Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.62969129
133T cell receptor signaling pathway_Homo sapiens_hsa046600.62941785
134Complement and coagulation cascades_Homo sapiens_hsa046100.60980164
135MAPK signaling pathway_Homo sapiens_hsa040100.60579152
136Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.60226169
137HTLV-I infection_Homo sapiens_hsa051660.59837384
138FoxO signaling pathway_Homo sapiens_hsa040680.59828316
139Dopaminergic synapse_Homo sapiens_hsa047280.58537758
140Melanoma_Homo sapiens_hsa052180.58350625
141Arachidonic acid metabolism_Homo sapiens_hsa005900.58021151
142Cysteine and methionine metabolism_Homo sapiens_hsa002700.58000135
143Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57547118
144Asthma_Homo sapiens_hsa053100.57116172
145Autoimmune thyroid disease_Homo sapiens_hsa053200.57066592
146Salmonella infection_Homo sapiens_hsa051320.56936880
147Chemokine signaling pathway_Homo sapiens_hsa040620.56564051
148Estrogen signaling pathway_Homo sapiens_hsa049150.55479398
149Phospholipase D signaling pathway_Homo sapiens_hsa040720.55406131
150Purine metabolism_Homo sapiens_hsa002300.55361509
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.55005736
152Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54942679
153Ras signaling pathway_Homo sapiens_hsa040140.54497852
154Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53780033
155Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.53610418
156Oocyte meiosis_Homo sapiens_hsa041140.53155127
157Hepatitis C_Homo sapiens_hsa051600.52830281
158Ribosome_Homo sapiens_hsa030100.51981505
159Adherens junction_Homo sapiens_hsa045200.51275182
160Hedgehog signaling pathway_Homo sapiens_hsa043400.50699255
161Pancreatic cancer_Homo sapiens_hsa052120.50367319
162Tight junction_Homo sapiens_hsa045300.49553969
163Pancreatic secretion_Homo sapiens_hsa049720.49122621
164Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.48877170
165Cocaine addiction_Homo sapiens_hsa050300.47642350
166Folate biosynthesis_Homo sapiens_hsa007900.47628597
167Choline metabolism in cancer_Homo sapiens_hsa052310.46400064
168Wnt signaling pathway_Homo sapiens_hsa043100.46253988
169Biosynthesis of amino acids_Homo sapiens_hsa012300.46170776
170Viral myocarditis_Homo sapiens_hsa054160.45940757
171Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.45749595
172HIF-1 signaling pathway_Homo sapiens_hsa040660.45055328
173Non-small cell lung cancer_Homo sapiens_hsa052230.44869482
174Fatty acid biosynthesis_Homo sapiens_hsa000610.44327299
175mTOR signaling pathway_Homo sapiens_hsa041500.44112035
176Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.43386343
177Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42608540
178Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.42342929
179Bile secretion_Homo sapiens_hsa049760.41540643
180Vitamin digestion and absorption_Homo sapiens_hsa049770.41456853
181Platelet activation_Homo sapiens_hsa046110.41391690
182Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.40177767

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