HDAC8

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: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple 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
1L-serine transport (GO:0015825)6.72389910
2serine transport (GO:0032329)6.20570786
3positive regulation of gamma-delta T cell activation (GO:0046645)5.50018144
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.60005227
5alanine transport (GO:0032328)4.58819139
6auditory behavior (GO:0031223)4.50735359
7protein complex biogenesis (GO:0070271)4.37906545
8protein-cofactor linkage (GO:0018065)4.33588172
9proteasome assembly (GO:0043248)4.20067659
10mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.19576377
11mitochondrial respiratory chain complex I assembly (GO:0032981)4.19576377
12NADH dehydrogenase complex assembly (GO:0010257)4.19576377
13positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.13018904
14regulation of gamma-delta T cell differentiation (GO:0045586)4.06879506
15cullin deneddylation (GO:0010388)4.03616439
16positive regulation of B cell differentiation (GO:0045579)4.03562975
17mitochondrial respiratory chain complex assembly (GO:0033108)4.03333768
18protein deneddylation (GO:0000338)4.01719425
19natural killer cell differentiation (GO:0001779)3.99007022
20mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.96621460
21cell morphogenesis involved in neuron differentiation (GO:0048667)3.93557472
22response to interleukin-15 (GO:0070672)3.92724090
23positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.91442400
24positive regulation of histone deacetylation (GO:0031065)3.87137994
25regulation of fever generation (GO:0031620)3.80586723
26DNA double-strand break processing (GO:0000729)3.79878208
27regulation of oxidative stress-induced neuron death (GO:1903203)3.78898711
28energy coupled proton transport, down electrochemical gradient (GO:0015985)3.77057492
29ATP synthesis coupled proton transport (GO:0015986)3.77057492
30respiratory chain complex IV assembly (GO:0008535)3.71185256
31RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.69286938
32tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.69286938
33amino acid import (GO:0043090)3.69251264
34positive thymic T cell selection (GO:0045059)3.66170146
35positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)3.66087696
36nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.65754623
37positive regulation of mitochondrial fission (GO:0090141)3.64749517
38regulation of gamma-delta T cell activation (GO:0046643)3.64289340
39positive regulation of granulocyte differentiation (GO:0030854)3.63335613
40respiratory electron transport chain (GO:0022904)3.62292239
41exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.61197423
42mechanosensory behavior (GO:0007638)3.60867867
43negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.59572679
44sodium ion export (GO:0071436)3.58905079
45electron transport chain (GO:0022900)3.57311580
46establishment of protein localization to mitochondrial membrane (GO:0090151)3.54963589
47C4-dicarboxylate transport (GO:0015740)3.53060324
48regulation of B cell differentiation (GO:0045577)3.51690863
49antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.50251973
50positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.47095860
51regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.39616523
52negative thymic T cell selection (GO:0045060)3.38981292
53negative T cell selection (GO:0043383)3.38945138
54DNA deamination (GO:0045006)3.38829574
55regulation of heat generation (GO:0031650)3.37416351
56positive regulation of gene expression, epigenetic (GO:0045815)3.36915507
57regulation of histone H3-K27 methylation (GO:0061085)3.36205307
58histone H2A acetylation (GO:0043968)3.35663816
59regulation of interferon-beta biosynthetic process (GO:0045357)3.34747239
60L-amino acid import (GO:0043092)3.34639972
61regulation of cellular amino acid metabolic process (GO:0006521)3.34067443
62regulation of B cell receptor signaling pathway (GO:0050855)3.33958429
63chaperone-mediated protein transport (GO:0072321)3.32044220
64neutral amino acid transport (GO:0015804)3.25911885
65platelet dense granule organization (GO:0060155)3.25464997
66ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043163.24540178
67cytochrome complex assembly (GO:0017004)3.23420104
68DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.21074263
69negative regulation of ligase activity (GO:0051352)3.19803019
70negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.19803019
71intracellular protein transmembrane import (GO:0044743)3.15646966
72signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.14510612
73signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.14510612
74signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.14510612
75deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.14459193
76protein neddylation (GO:0045116)3.12574268
77intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.12082908
78signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.12082908
79anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.11507642
80positive regulation of triglyceride biosynthetic process (GO:0010867)3.08409201
81protein kinase C signaling (GO:0070528)3.07753445
82neurotransmitter uptake (GO:0001504)3.07429402
83response to auditory stimulus (GO:0010996)3.05656390
84glucocorticoid receptor signaling pathway (GO:0042921)3.05617433
85positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.05372593
86negative regulation of stress fiber assembly (GO:0051497)3.04543062
87GMP metabolic process (GO:0046037)3.01760292
88B cell receptor signaling pathway (GO:0050853)3.01379900
89signal transduction involved in cell cycle checkpoint (GO:0072395)2.98027974
90regulation of mitochondrial translation (GO:0070129)2.97150851
91signal transduction involved in DNA integrity checkpoint (GO:0072401)2.97117451
92signal transduction involved in DNA damage checkpoint (GO:0072422)2.97117451
93anterograde synaptic vesicle transport (GO:0048490)2.96993792
94cellular potassium ion homeostasis (GO:0030007)2.96881483
95negative regulation of synaptic transmission, GABAergic (GO:0032229)2.96773160
96ribonucleoprotein complex disassembly (GO:0032988)2.95777951
97organelle disassembly (GO:1903008)2.94482904
98DNA catabolic process, exonucleolytic (GO:0000738)2.92495847
99gamma-aminobutyric acid transport (GO:0015812)2.91825907
100intraciliary transport (GO:0042073)2.90489701
101purine-containing compound salvage (GO:0043101)2.89826712
102DNA unwinding involved in DNA replication (GO:0006268)2.89651160
103water-soluble vitamin biosynthetic process (GO:0042364)2.89152806
104positive regulation of ligase activity (GO:0051351)2.88086047
105regulation of penile erection (GO:0060405)2.86516151
106ncRNA 3-end processing (GO:0043628)2.85579109
107megakaryocyte development (GO:0035855)2.84523173
108negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.84430752
109pseudouridine synthesis (GO:0001522)2.84351952
110response to host (GO:0075136)2.83949948
111response to host defenses (GO:0052200)2.83949948
112response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.83949948
113startle response (GO:0001964)2.83361033
114mannosylation (GO:0097502)2.83213169
115regulation of type I interferon-mediated signaling pathway (GO:0060338)2.83026652
116positive regulation of RNA splicing (GO:0033120)2.81677831
117heparin biosynthetic process (GO:0030210)2.81601042
118heparin metabolic process (GO:0030202)2.81601042
119mucosal-associated lymphoid tissue development (GO:0048537)2.80947561
120Peyers patch development (GO:0048541)2.80947561
121maturation of 5.8S rRNA (GO:0000460)2.80517759
122epithelial cell differentiation involved in prostate gland development (GO:0060742)2.79895953
123positive T cell selection (GO:0043368)2.79726308
124positive regulation by organism of defense response of other organism involved in symbiotic interact2.79364016
125modulation by symbiont of host immune response (GO:0052553)2.79364016
126positive regulation by symbiont of host defense response (GO:0052509)2.79364016
127modulation by symbiont of host defense response (GO:0052031)2.79364016
128modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.79364016
129modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.79364016
130L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79092630
131positive regulation of protein deacetylation (GO:0090312)2.78782217
132protein import into peroxisome matrix (GO:0016558)2.78768841
133regulation of response to interferon-gamma (GO:0060330)2.77604192
134DNA damage response, detection of DNA damage (GO:0042769)2.75806755
135inner mitochondrial membrane organization (GO:0007007)2.75547823
136* regulation of sister chromatid cohesion (GO:0007063)2.75009864
137secretory granule organization (GO:0033363)2.74282557
138T cell selection (GO:0045058)2.72451312
139cellular response to interferon-beta (GO:0035458)2.72412872
140antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.70509887
141antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.70509887
142cellular response to zinc ion (GO:0071294)2.68730493
143inositol phosphate catabolic process (GO:0071545)2.68484376
144regulation of isotype switching to IgG isotypes (GO:0048302)2.68422562
145negative regulation of cell killing (GO:0031342)2.68413160
146negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.68413160
147mannose metabolic process (GO:0006013)2.67844105
148positive regulation of interferon-alpha production (GO:0032727)2.67095364
149interferon-gamma production (GO:0032609)2.66916681
150cellular response to interleukin-15 (GO:0071350)2.66711214
151regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.66286266
152prenylation (GO:0097354)2.64383976
153protein prenylation (GO:0018342)2.64383976
154regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.61702492
155ubiquinone biosynthetic process (GO:0006744)2.60909440
156thymic T cell selection (GO:0045061)2.60460613
157tRNA processing (GO:0008033)2.60400418
158acidic amino acid transport (GO:0015800)2.60072933
159replication fork processing (GO:0031297)2.59967401
160mitotic sister chromatid cohesion (GO:0007064)2.59838689
161regulation of ubiquitin-protein transferase activity (GO:0051438)2.58694895
162branched-chain amino acid catabolic process (GO:0009083)2.58068347
163inositol phosphate dephosphorylation (GO:0046855)2.57845150
164phosphorylated carbohydrate dephosphorylation (GO:0046838)2.57845150
165energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.57192455
166ATP hydrolysis coupled proton transport (GO:0015991)2.57192455
167DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.56612636
168protein K11-linked deubiquitination (GO:0035871)2.56016696
169positive regulation of lamellipodium organization (GO:1902745)2.55949238
170negative regulation of DNA-dependent DNA replication (GO:2000104)2.55216330
171centriole replication (GO:0007099)2.55208576
172somatic hypermutation of immunoglobulin genes (GO:0016446)2.54840897
173somatic diversification of immune receptors via somatic mutation (GO:0002566)2.54840897
174leukocyte aggregation (GO:0070486)2.54505077
175negative regulation of response to reactive oxygen species (GO:1901032)2.54219992
176hydrogen ion transmembrane transport (GO:1902600)2.54014863
177T cell homeostasis (GO:0043029)2.53166345
178natural killer cell activation (GO:0030101)2.52710158
179tRNA metabolic process (GO:0006399)2.52707957
180energy homeostasis (GO:0097009)2.52616512
181pentose-phosphate shunt (GO:0006098)2.52020423
182detection of chemical stimulus involved in sensory perception of smell (GO:0050911)2.51853972
183regulation of interferon-alpha production (GO:0032647)2.51324885
184cellular response to virus (GO:0098586)2.50311205
185sequestering of actin monomers (GO:0042989)2.48622339
186protein K11-linked ubiquitination (GO:0070979)2.48036500
187protein targeting to mitochondrion (GO:0006626)2.47417967
188innervation (GO:0060384)2.47134233
189base-excision repair, AP site formation (GO:0006285)2.47049355
190preassembly of GPI anchor in ER membrane (GO:0016254)2.46899301
191L-methionine biosynthetic process (GO:0071265)2.46797838
192amino acid salvage (GO:0043102)2.46797838
193L-methionine salvage (GO:0071267)2.46797838
194regulation of ligase activity (GO:0051340)2.46174454
195regulation of cellular amine metabolic process (GO:0033238)2.45964519
196regulation of hydrogen peroxide-induced cell death (GO:1903205)2.45578974
197phasic smooth muscle contraction (GO:0014821)2.45110400
198intracellular protein transmembrane transport (GO:0065002)2.43937469
199regulation of mitotic spindle checkpoint (GO:1903504)2.43524723
200regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.43524723

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.53924450
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.57982112
3EGR1_19374776_ChIP-ChIP_THP-1_Human4.44766484
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.00378347
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.96031914
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.94088442
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.83140743
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.68576945
9* EST1_17652178_ChIP-ChIP_JURKAT_Human3.55727487
10IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.53156667
11SCL_19346495_ChIP-Seq_HPC-7_Human3.36426291
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.33503255
13MYC_22102868_ChIP-Seq_BL_Human3.33216843
14RUNX_20019798_ChIP-Seq_JUKART_Human3.25832505
15IGF1R_20145208_ChIP-Seq_DFB_Human3.07224711
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.06548989
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.92515462
18HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.80823328
19VDR_21846776_ChIP-Seq_THP-1_Human2.68913866
20FOXM1_23109430_ChIP-Seq_U2OS_Human2.67607985
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.66265248
22* ETS1_20019798_ChIP-Seq_JURKAT_Human2.65877786
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.60074526
24ZNF274_21170338_ChIP-Seq_K562_Hela2.58608929
25NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.58594623
26ELK1_19687146_ChIP-ChIP_HELA_Human2.54238197
27MYB_26560356_Chip-Seq_TH2_Human2.53182177
28SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.46239626
29CREB1_15753290_ChIP-ChIP_HEK293T_Human2.42254932
30MAF_26560356_Chip-Seq_TH1_Human2.41182232
31SMAD_19615063_ChIP-ChIP_OVARY_Human2.40674006
32VDR_23849224_ChIP-Seq_CD4+_Human2.31352317
33VDR_22108803_ChIP-Seq_LS180_Human2.27770573
34MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.27532188
35UTX_26944678_Chip-Seq_JUKART_Human2.25637524
36FUS_26573619_Chip-Seq_HEK293_Human2.15543032
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.14329635
38NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.13492069
39E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.11402795
40MYB_21317192_ChIP-Seq_ERMYB_Mouse2.08387047
41POU3F2_20337985_ChIP-ChIP_501MEL_Human2.07083405
42MYB_26560356_Chip-Seq_TH1_Human2.06887735
43KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.01377330
44TAF15_26573619_Chip-Seq_HEK293_Human1.98646217
45RUNX1_22412390_ChIP-Seq_EML_Mouse1.91887936
46FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.91204104
47SRF_21415370_ChIP-Seq_HL-1_Mouse1.90585631
48GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.90315242
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.90275934
50CIITA_25753668_ChIP-Seq_RAJI_Human1.89390399
51STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.88688124
52IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.88289587
53PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87892351
54PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.86742550
55RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.86219742
56RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.85723461
57SPI1_23127762_ChIP-Seq_K562_Human1.84952826
58ELF1_17652178_ChIP-ChIP_JURKAT_Human1.83514042
59VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.79972321
60CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.78173207
61STAT4_19710469_ChIP-ChIP_TH1__Mouse1.77406496
62VDR_24763502_ChIP-Seq_THP-1_Human1.77000777
63NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.76363219
64E2F4_17652178_ChIP-ChIP_JURKAT_Human1.74993496
65SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.74476079
66NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.74091634
67* FOXP3_21729870_ChIP-Seq_TREG_Human1.73331012
68FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.72773012
69KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.71697883
70FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.71643827
71PADI4_21655091_ChIP-ChIP_MCF-7_Human1.70615052
72SALL1_21062744_ChIP-ChIP_HESCs_Human1.68184612
73KDM2B_26808549_Chip-Seq_DND41_Human1.66716665
74TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.66536573
75SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66465310
76EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.65985668
77ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.65791882
78FLI1_27457419_Chip-Seq_LIVER_Mouse1.64003525
79GBX2_23144817_ChIP-Seq_PC3_Human1.63579726
80P300_19829295_ChIP-Seq_ESCs_Human1.63265622
81GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63212191
82IRF1_19129219_ChIP-ChIP_H3396_Human1.58422479
83KDM2B_26808549_Chip-Seq_JURKAT_Human1.56161659
84GATA3_27048872_Chip-Seq_THYMUS_Human1.56122104
85IRF8_27001747_Chip-Seq_BMDM_Mouse1.53876685
86MYC_18940864_ChIP-ChIP_HL60_Human1.53815793
87TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.52593919
88MAF_26560356_Chip-Seq_TH2_Human1.51436463
89GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.46898510
90SPI1_23547873_ChIP-Seq_NB4_Human1.40990031
91CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40365584
92GABP_19822575_ChIP-Seq_HepG2_Human1.40156306
93YY1_21170310_ChIP-Seq_MESCs_Mouse1.36984782
94TCF7_22412390_ChIP-Seq_EML_Mouse1.35834304
95DCP1A_22483619_ChIP-Seq_HELA_Human1.31487491
96CTBP1_25329375_ChIP-Seq_LNCAP_Human1.30819522
97ERG_20887958_ChIP-Seq_HPC-7_Mouse1.28295221
98MYC_18358816_ChIP-ChIP_MESCs_Mouse1.24284105
99TP53_22573176_ChIP-Seq_HFKS_Human1.22968257
100MYC_18555785_ChIP-Seq_MESCs_Mouse1.22454622
101MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.20270424
102E2F1_21310950_ChIP-Seq_MCF-7_Human1.19273371
103ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.18787764
104STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.18511345
105CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.16812127
106KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16719983
107GATA1_19941827_ChIP-Seq_MEL_Mouse1.16074104
108POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.14721425
109ER_23166858_ChIP-Seq_MCF-7_Human1.14181147
110ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.13450400
111EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.12667278
112SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12243063
113MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11747433
114E2F1_18555785_ChIP-Seq_MESCs_Mouse1.11451934
115PCGF2_27294783_Chip-Seq_ESCs_Mouse1.11425380
116NANOG_19829295_ChIP-Seq_ESCs_Human1.11400495
117SOX2_19829295_ChIP-Seq_ESCs_Human1.11400495
118FOXA1_27270436_Chip-Seq_PROSTATE_Human1.10034062
119FOXA1_25329375_ChIP-Seq_VCAP_Human1.10034062
120AR_21909140_ChIP-Seq_LNCAP_Human1.09359166
121CBP_20019798_ChIP-Seq_JUKART_Human1.09065526
122IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09065526
123HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.08811327
124BRD4_27068464_Chip-Seq_AML-cells_Mouse1.07175633
125TTF2_22483619_ChIP-Seq_HELA_Human1.06667811
126ELK1_22589737_ChIP-Seq_MCF10A_Human1.06573418
127MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05852352
128UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.05648170
129DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.04534895
130MYC_19030024_ChIP-ChIP_MESCs_Mouse1.03253817
131AR_21572438_ChIP-Seq_LNCaP_Human1.02941072
132AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.02500896
133NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.01970154
134YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01795930
135LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.00405180
136GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99537853
137* SMAD4_21799915_ChIP-Seq_A2780_Human0.99207537
138SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99098813
139TFEB_21752829_ChIP-Seq_HELA_Human0.97627171
140NFE2_27457419_Chip-Seq_LIVER_Mouse0.97288571
141FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.97267496
142EZH2_27294783_Chip-Seq_NPCs_Mouse0.97214321
143POU5F1_16153702_ChIP-ChIP_HESCs_Human0.96603846
144KDM5A_27292631_Chip-Seq_BREAST_Human0.96244532
145CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.95883240
146GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95251912
147KLF5_20875108_ChIP-Seq_MESCs_Mouse0.94882937
148ELK3_25401928_ChIP-Seq_HUVEC_Human0.94330667
149RNF2_27304074_Chip-Seq_NSC_Mouse0.94136452
150CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94066318
151SALL4_22934838_ChIP-ChIP_CD34+_Human0.93537097
152HTT_18923047_ChIP-ChIP_STHdh_Human0.93369929
153E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92661838
154TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92259003
155BCAT_22108803_ChIP-Seq_LS180_Human0.90232905
156PU_27001747_Chip-Seq_BMDM_Mouse0.89978540
157AR_20517297_ChIP-Seq_VCAP_Human0.89970978
158CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89270127
159RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89157780
160RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.88211958
161STAT3_18555785_Chip-Seq_ESCs_Mouse0.87540776
162SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.87024534
163NOTCH1_21737748_ChIP-Seq_TLL_Human0.86511453
164PKCTHETA_26484144_Chip-Seq_BREAST_Human0.86018818
165SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.85336410
166* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.85255441
167TP63_19390658_ChIP-ChIP_HaCaT_Human0.85083744
168GATA1_19941826_ChIP-Seq_K562_Human0.85074845
169AUTS2_25519132_ChIP-Seq_293T-REX_Human0.84976613
170DNAJC2_21179169_ChIP-ChIP_NT2_Human0.84732150
171FOXA1_21572438_ChIP-Seq_LNCaP_Human0.84111737
172TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.83928527
173AR_25329375_ChIP-Seq_VCAP_Human0.83868462
174NANOG_18555785_Chip-Seq_ESCs_Mouse0.83827123
175SMAD3_21741376_ChIP-Seq_EPCs_Human0.83018351
176EOMES_21245162_ChIP-Seq_HESCs_Human0.82830910
177RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82124052
178PU.1_20513432_ChIP-Seq_Bcells_Mouse0.80795637
179EWS_26573619_Chip-Seq_HEK293_Human0.80602173
180THAP11_20581084_ChIP-Seq_MESCs_Mouse0.79341635
181FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.79327010
182HOXB4_20404135_ChIP-ChIP_EML_Mouse0.78743791
183CLOCK_20551151_ChIP-Seq_293T_Human0.78081286
184GATA1_22025678_ChIP-Seq_K562_Human0.77698942
185ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.76281189
186* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76254268
187CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.75856765
188CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75368808
189GATA2_19941826_ChIP-Seq_K562_Human0.75351232

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color5.26198129
2MP0005171_absent_coat_pigmentation3.46849845
3MP0002837_dystrophic_cardiac_calcinosis3.38473562
4MP0006054_spinal_hemorrhage3.09789279
5MP0005084_abnormal_gallbladder_morpholo3.05621342
6MP0000685_abnormal_immune_system2.91014857
7MP0002396_abnormal_hematopoietic_system2.78871186
8MP0000372_irregular_coat_pigmentation2.71997832
9MP0008058_abnormal_DNA_repair2.65699019
10MP0001800_abnormal_humoral_immune2.43017932
11MP0001835_abnormal_antigen_presentation2.40925587
12MP0005174_abnormal_tail_pigmentation2.33678398
13MP0002822_catalepsy2.33531292
14MP0005075_abnormal_melanosome_morpholog2.32489391
15MP0008877_abnormal_DNA_methylation2.28418937
16MP0001529_abnormal_vocalization2.27095478
17MP0006292_abnormal_olfactory_placode2.26278115
18MP0005671_abnormal_response_to2.24293050
19MP0006072_abnormal_retinal_apoptosis2.21075632
20MP0008961_abnormal_basal_metabolism2.17232229
21MP0004808_abnormal_hematopoietic_stem2.13362851
22MP0003300_gastrointestinal_ulcer2.10801659
23MP0003172_abnormal_lysosome_physiology2.10066663
24MP0003690_abnormal_glial_cell2.07513287
25MP0002398_abnormal_bone_marrow2.04729677
26MP0008789_abnormal_olfactory_epithelium2.04225337
27MP0005551_abnormal_eye_electrophysiolog2.00773619
28MP0003763_abnormal_thymus_physiology2.00486637
29MP0003279_aneurysm1.99807211
30MP0003880_abnormal_central_pattern1.96120163
31MP0002102_abnormal_ear_morphology1.94309367
32MP0003718_maternal_effect1.92293978
33MP0002452_abnormal_antigen_presenting1.92236978
34MP0003646_muscle_fatigue1.91639032
35MP0000465_gastrointestinal_hemorrhage1.90632161
36MP0003195_calcinosis1.85298569
37MP0002723_abnormal_immune_serum1.81405661
38MP0000569_abnormal_digit_pigmentation1.79578899
39MP0005464_abnormal_platelet_physiology1.78031728
40MP0001873_stomach_inflammation1.76780431
41MP0002095_abnormal_skin_pigmentation1.75160242
42MP0002876_abnormal_thyroid_physiology1.74771975
43MP0002420_abnormal_adaptive_immunity1.74086471
44MP0001502_abnormal_circadian_rhythm1.71492055
45MP0001819_abnormal_immune_cell1.71271096
46MP0003303_peritoneal_inflammation1.69816947
47MP0003186_abnormal_redox_activity1.69094832
48MP0000716_abnormal_immune_system1.66184851
49MP0003656_abnormal_erythrocyte_physiolo1.64200139
50MP0001790_abnormal_immune_system1.63572349
51MP0005387_immune_system_phenotype1.63572349
52MP0004147_increased_porphyrin_level1.62119434
53MP0004859_abnormal_synaptic_plasticity1.61826546
54MP0005253_abnormal_eye_physiology1.60964447
55MP0005025_abnormal_response_to1.58847276
56MP0002722_abnormal_immune_system1.57009279
57MP0006036_abnormal_mitochondrial_physio1.56985416
58MP0003011_delayed_dark_adaptation1.56079632
59MP0002736_abnormal_nociception_after1.54637549
60MP0005394_taste/olfaction_phenotype1.54378098
61MP0005499_abnormal_olfactory_system1.54378098
62MP0000689_abnormal_spleen_morphology1.51611626
63MP0000703_abnormal_thymus_morphology1.51453012
64MP0005058_abnormal_lysosome_morphology1.51372257
65MP0001984_abnormal_olfaction1.51354306
66MP0001905_abnormal_dopamine_level1.49954447
67MP0001986_abnormal_taste_sensitivity1.49236380
68MP0006276_abnormal_autonomic_nervous1.46525121
69MP0002419_abnormal_innate_immunity1.46166927
70MP0004233_abnormal_muscle_weight1.46098837
71MP0002638_abnormal_pupillary_reflex1.45848660
72MP0003693_abnormal_embryo_hatching1.45519917
73MP0003806_abnormal_nucleotide_metabolis1.44442391
74MP0003786_premature_aging1.43795425
75MP0002429_abnormal_blood_cell1.42380795
76MP0005645_abnormal_hypothalamus_physiol1.41464799
77MP0002166_altered_tumor_susceptibility1.41162623
78MP0008569_lethality_at_weaning1.40666386
79MP0005000_abnormal_immune_tolerance1.40232397
80MP0002751_abnormal_autonomic_nervous1.39689474
81MP0009780_abnormal_chondrocyte_physiolo1.38608408
82MP0001727_abnormal_embryo_implantation1.36820863
83MP0006035_abnormal_mitochondrial_morpho1.33074011
84MP0009697_abnormal_copulation1.32997053
85MP0003252_abnormal_bile_duct1.32441729
86MP0004130_abnormal_muscle_cell1.31765811
87MP0010234_abnormal_vibrissa_follicle1.30427261
88MP0005397_hematopoietic_system_phenotyp1.29571779
89MP0001545_abnormal_hematopoietic_system1.29571779
90MP0008007_abnormal_cellular_replicative1.27539464
91MP0008932_abnormal_embryonic_tissue1.27459390
92MP0004133_heterotaxia1.26119824
93MP0005646_abnormal_pituitary_gland1.26047151
94MP0000015_abnormal_ear_pigmentation1.25300324
95MP0008775_abnormal_heart_ventricle1.24079707
96MP0005408_hypopigmentation1.22922942
97MP0008875_abnormal_xenobiotic_pharmacok1.21701608
98MP0001851_eye_inflammation1.20831007
99MP0001853_heart_inflammation1.19845669
100MP0008995_early_reproductive_senescence1.19584927
101MP0003950_abnormal_plasma_membrane1.19344716
102MP0003111_abnormal_nucleus_morphology1.19005518
103MP0005076_abnormal_cell_differentiation1.18216953
104MP0008872_abnormal_physiological_respon1.15989330
105MP0003077_abnormal_cell_cycle1.15271031
106MP0004947_skin_inflammation1.14781553
107MP0009046_muscle_twitch1.12344887
108* MP0001915_intracranial_hemorrhage1.11238665
109MP0002938_white_spotting1.10458357
110MP0001968_abnormal_touch/_nociception1.09465830
111MP0002405_respiratory_system_inflammati1.09455549
112MP0002272_abnormal_nervous_system1.08434758
113MP0003632_abnormal_nervous_system1.07021580
114MP0002160_abnormal_reproductive_system1.06877326
115MP0000858_altered_metastatic_potential1.06191012
116MP0002006_tumorigenesis1.04338941
117MP0009745_abnormal_behavioral_response1.02143535
118MP0000631_abnormal_neuroendocrine_gland1.01999800
119MP0000490_abnormal_crypts_of1.00905735
120MP0010094_abnormal_chromosome_stability1.00893150
121MP0009278_abnormal_bone_marrow1.00701573
122MP0002928_abnormal_bile_duct0.99842049
123MP0003091_abnormal_cell_migration0.99771401
124MP0005220_abnormal_exocrine_pancreas0.99729838
125MP0009840_abnormal_foam_cell0.99465812
126MP0000358_abnormal_cell_content/0.99081074
127MP0002735_abnormal_chemical_nociception0.97199202
128MP0003890_abnormal_embryonic-extraembry0.97035215
129MP0002210_abnormal_sex_determination0.96613021
130MP0009785_altered_susceptibility_to0.96591969
131MP0004215_abnormal_myocardial_fiber0.96354749
132MP0001270_distended_abdomen0.96266581
133MP0010386_abnormal_urinary_bladder0.95603735
134MP0000920_abnormal_myelination0.95358971
135MP0006082_CNS_inflammation0.94525771
136* MP0003121_genomic_imprinting0.92814168
137MP0002572_abnormal_emotion/affect_behav0.90846360
138MP0003633_abnormal_nervous_system0.89531064
139MP0001293_anophthalmia0.89506939
140MP0001929_abnormal_gametogenesis0.89117833
141MP0000516_abnormal_urinary_system0.88655252
142MP0005367_renal/urinary_system_phenotyp0.88655252
143MP0009384_cardiac_valve_regurgitation0.88436478
144MP0005195_abnormal_posterior_eye0.87106182
145MP0005379_endocrine/exocrine_gland_phen0.86948190
146MP0002234_abnormal_pharynx_morphology0.86269158
147MP0003045_fibrosis0.85893389
148MP0002138_abnormal_hepatobiliary_system0.85629957
149MP0002557_abnormal_social/conspecific_i0.85103905
150MP0001324_abnormal_eye_pigmentation0.85081965
151MP0005621_abnormal_cell_physiology0.84924608
152MP0002089_abnormal_postnatal_growth/wei0.84840852
153MP0010155_abnormal_intestine_physiology0.83261048
154MP0002019_abnormal_tumor_incidence0.82104828
155MP0000653_abnormal_sex_gland0.81618578
156MP0001764_abnormal_homeostasis0.81243817
157MP0005389_reproductive_system_phenotype0.81068155
158MP0000427_abnormal_hair_cycle0.80550049
159MP0003221_abnormal_cardiomyocyte_apopto0.79921194
160MP0003631_nervous_system_phenotype0.79466781
161MP0002653_abnormal_ependyma_morphology0.78917496
162MP0010307_abnormal_tumor_latency0.78626237
163MP0004510_myositis0.78533215
164MP0000604_amyloidosis0.78297190
165MP0001145_abnormal_male_reproductive0.78029718
166MP0001845_abnormal_inflammatory_respons0.77855247
167MP0005332_abnormal_amino_acid0.77706791
168MP0003866_abnormal_defecation0.76912270
169MP0004142_abnormal_muscle_tone0.76303526
170MP0000350_abnormal_cell_proliferation0.76166634
171MP0003634_abnormal_glial_cell0.76031012
172MP0003943_abnormal_hepatobiliary_system0.73709915
173MP0004858_abnormal_nervous_system0.73556648
174MP0004957_abnormal_blastocyst_morpholog0.73406751
175MP0002752_abnormal_somatic_nervous0.73012456
176MP0000778_abnormal_nervous_system0.72256995
177MP0005395_other_phenotype0.71801318
178MP0001849_ear_inflammation0.69456708
179MP0003436_decreased_susceptibility_to0.69148737
180MP0004811_abnormal_neuron_physiology0.67031513
181MP0002075_abnormal_coat/hair_pigmentati0.64981111
182MP0001661_extended_life_span0.64860412

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.35918234
2Hypoplasia of the thymus (HP:0000778)4.03042231
3Mitochondrial inheritance (HP:0001427)4.02431781
4Acute encephalopathy (HP:0006846)4.01878306
5Increased CSF lactate (HP:0002490)3.93808538
6Abnormal mitochondria in muscle tissue (HP:0008316)3.92737747
7Agammaglobulinemia (HP:0004432)3.84805370
8Abnormality of macular pigmentation (HP:0008002)3.81219335
9Progressive macrocephaly (HP:0004481)3.69345438
10Hepatocellular necrosis (HP:0001404)3.67175749
11Abnormality of B cell number (HP:0010975)3.58578668
12B lymphocytopenia (HP:0010976)3.58578668
13Increased hepatocellular lipid droplets (HP:0006565)3.57000513
14Thyroiditis (HP:0100646)3.43283699
15Hepatic necrosis (HP:0002605)3.42939511
16Spondylolisthesis (HP:0003302)3.42277315
17Increased neuronal autofluorescent lipopigment (HP:0002074)3.35182631
18Increased cerebral lipofuscin (HP:0011813)3.33805894
19Cellulitis (HP:0100658)3.29726103
20Panhypogammaglobulinemia (HP:0003139)3.26334043
21Lipid accumulation in hepatocytes (HP:0006561)3.26326513
22Severe combined immunodeficiency (HP:0004430)3.22754355
23Renal Fanconi syndrome (HP:0001994)3.21912644
24Abnormality of the fingertips (HP:0001211)3.19631474
25Recurrent viral infections (HP:0004429)3.18706796
26Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.18128116
27Molar tooth sign on MRI (HP:0002419)3.08689345
28Abnormality of midbrain morphology (HP:0002418)3.08689345
29IgM deficiency (HP:0002850)3.07071682
30Cerebral edema (HP:0002181)3.02983701
31Constricted visual fields (HP:0001133)3.01839055
32Decreased electroretinogram (ERG) amplitude (HP:0000654)3.01083488
33Methylmalonic acidemia (HP:0002912)3.00902167
34Pancreatic cysts (HP:0001737)2.96007076
35Abnormal auditory evoked potentials (HP:0006958)2.94209269
363-Methylglutaconic aciduria (HP:0003535)2.94010800
37Recurrent fungal infections (HP:0002841)2.91967472
38Large for gestational age (HP:0001520)2.90436753
39Optic disc pallor (HP:0000543)2.90210330
40Abnormality of binocular vision (HP:0011514)2.89929343
41Diplopia (HP:0000651)2.89929343
42Recurrent bronchitis (HP:0002837)2.82219876
43Papilloma (HP:0012740)2.81475388
44Verrucae (HP:0200043)2.81475388
45Medial flaring of the eyebrow (HP:0010747)2.79062935
46Nephronophthisis (HP:0000090)2.78813747
47Combined immunodeficiency (HP:0005387)2.75882632
48Recurrent cutaneous fungal infections (HP:0011370)2.75393780
49Chronic mucocutaneous candidiasis (HP:0002728)2.75393780
50White forelock (HP:0002211)2.75185541
51Hemiplegia (HP:0002301)2.71385489
52Broad face (HP:0000283)2.71234831
53Clumsiness (HP:0002312)2.70379903
54Lactic acidosis (HP:0003128)2.70084017
55T lymphocytopenia (HP:0005403)2.69745923
56Pancreatic fibrosis (HP:0100732)2.68654358
57IgG deficiency (HP:0004315)2.65465960
58Attenuation of retinal blood vessels (HP:0007843)2.64904284
59True hermaphroditism (HP:0010459)2.64626076
60Abnormality of renal resorption (HP:0011038)2.60354926
61Abnormality of the labia minora (HP:0012880)2.60180877
62Methylmalonic aciduria (HP:0012120)2.58328050
63Arterial tortuosity (HP:0005116)2.56953807
64Increased serum lactate (HP:0002151)2.53963414
65Abnormality of T cell number (HP:0011839)2.53084173
66Asplenia (HP:0001746)2.50959654
67Patchy hypopigmentation of hair (HP:0011365)2.50543071
68Sepsis (HP:0100806)2.50277850
69Hypothermia (HP:0002045)2.45673631
70Gastrointestinal stroma tumor (HP:0100723)2.45614328
71Hyperacusis (HP:0010780)2.45460857
72Myositis (HP:0100614)2.45412937
73Abolished electroretinogram (ERG) (HP:0000550)2.45317723
74Bile duct proliferation (HP:0001408)2.44799483
75Abnormal biliary tract physiology (HP:0012439)2.44799483
76Nasal polyposis (HP:0100582)2.44031070
77Congenital stationary night blindness (HP:0007642)2.42663230
78Renal cortical cysts (HP:0000803)2.40285455
79Respiratory failure (HP:0002878)2.38964331
80Exertional dyspnea (HP:0002875)2.34564990
81Abnormality of the renal medulla (HP:0100957)2.32983965
82Increased intramyocellular lipid droplets (HP:0012240)2.32829721
83Meningitis (HP:0001287)2.28548081
84Tubulointerstitial nephritis (HP:0001970)2.28468187
85Albinism (HP:0001022)2.28433694
86Abnormality of the renal cortex (HP:0011035)2.27995002
87Abnormality of the heme biosynthetic pathway (HP:0010472)2.27515230
88Adrenal hypoplasia (HP:0000835)2.24340687
89Abnormality of urine glucose concentration (HP:0011016)2.23000477
90Glycosuria (HP:0003076)2.23000477
91Megalencephaly (HP:0001355)2.22689313
92Type II lissencephaly (HP:0007260)2.22528080
93Congenital primary aphakia (HP:0007707)2.22099518
94Osteomyelitis (HP:0002754)2.21448454
95* Increased nuchal translucency (HP:0010880)2.19828826
96Chronic otitis media (HP:0000389)2.19138102
97Gait imbalance (HP:0002141)2.18883666
98Spastic diplegia (HP:0001264)2.18678008
99Nephrogenic diabetes insipidus (HP:0009806)2.18051888
100Generalized aminoaciduria (HP:0002909)2.16237655
101Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.16174825
102Decreased activity of mitochondrial respiratory chain (HP:0008972)2.16174825
103Aplastic anemia (HP:0001915)2.15046984
104Lymphopenia (HP:0001888)2.14868056
105Vascular tortuosity (HP:0004948)2.14381765
106Pendular nystagmus (HP:0012043)2.13572817
107Aplasia/Hypoplasia of the spleen (HP:0010451)2.11671895
108Recurrent skin infections (HP:0001581)2.10933728
109Paraparesis (HP:0002385)2.10381132
110Exercise intolerance (HP:0003546)2.10194269
111Hyperglycinemia (HP:0002154)2.09474274
112Increased serum pyruvate (HP:0003542)2.09417868
113Abnormality of eosinophils (HP:0001879)2.09385988
114Spastic paraparesis (HP:0002313)2.08805891
115Subacute progressive viral hepatitis (HP:0006572)2.07543745
116Sclerocornea (HP:0000647)2.06923662
117Lissencephaly (HP:0001339)2.05742821
118Abnormality of the columella (HP:0009929)2.05097116
119Abnormality of cells of the lymphoid lineage (HP:0012140)2.03561165
120Depressed nasal tip (HP:0000437)2.02169885
121Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.01061766
122Reduced subcutaneous adipose tissue (HP:0003758)1.99088997
123Entropion (HP:0000621)1.97932285
124Congenital, generalized hypertrichosis (HP:0004540)1.97654986
125Eosinophilia (HP:0001880)1.97464657
126Delayed CNS myelination (HP:0002188)1.96167304
127Cone-rod dystrophy (HP:0000548)1.95950888
128Epiphyseal stippling (HP:0010655)1.93671535
129Aplasia/Hypoplasia of the tongue (HP:0010295)1.93491607
130* Synophrys (HP:0000664)1.93254808
131Abnormality of glycolysis (HP:0004366)1.92341392
132Postaxial foot polydactyly (HP:0001830)1.91947618
133CNS demyelination (HP:0007305)1.90524562
134Lethargy (HP:0001254)1.89805778
135Abnormality of hair growth rate (HP:0011363)1.88816190
136Slow-growing hair (HP:0002217)1.88816190
137Recurrent bacterial skin infections (HP:0005406)1.88382874
138Chronic sinusitis (HP:0011109)1.88155939
139Mitral regurgitation (HP:0001653)1.88122265
140Elevated erythrocyte sedimentation rate (HP:0003565)1.87378842
141Recurrent sinusitis (HP:0011108)1.86166988
142Aqueductal stenosis (HP:0002410)1.86133354
143Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.85847399
144Limb dystonia (HP:0002451)1.85085789
145Abnormality of T cells (HP:0002843)1.84346875
146Short tibia (HP:0005736)1.83842261
147Abnormality of the nasal mucosa (HP:0000433)1.83556599
148Severe muscular hypotonia (HP:0006829)1.83389012
149Cerebellar dysplasia (HP:0007033)1.82952889
150Neuronal loss in central nervous system (HP:0002529)1.82742179
151Aplasia/Hypoplasia of the tibia (HP:0005772)1.82686316
152Degeneration of anterior horn cells (HP:0002398)1.82504131
153Abnormality of the anterior horn cell (HP:0006802)1.82504131
154Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.80173743
155Abnormality of vitamin B metabolism (HP:0004340)1.78627321
156Chronic hepatic failure (HP:0100626)1.77698541
157Brushfield spots (HP:0001088)1.77072695
158Recurrent abscess formation (HP:0002722)1.76930797
159Type I transferrin isoform profile (HP:0003642)1.76899946
160Abnormality of aromatic amino acid family metabolism (HP:0004338)1.76827948
161Trigonocephaly (HP:0000243)1.76181386
162Autoimmune thrombocytopenia (HP:0001973)1.75884633
163Narrow nasal bridge (HP:0000446)1.75864420
164Retinitis pigmentosa (HP:0000510)1.75227928
165Atrophy/Degeneration involving motor neurons (HP:0007373)1.75213868
166Heterochromia iridis (HP:0001100)1.75188119
167Abnormality of fatty-acid metabolism (HP:0004359)1.74618387
168Abnormality of the intervertebral disk (HP:0005108)1.74446269
169Hyperphosphaturia (HP:0003109)1.73777634
170Oligodactyly (HP:0012165)1.72451690
171Male pseudohermaphroditism (HP:0000037)1.71977354
172Aplasia/Hypoplasia of the fovea (HP:0008060)1.71812627
173Hypoplasia of the fovea (HP:0007750)1.71812627
174Hypoproteinemia (HP:0003075)1.71674908
175Mutism (HP:0002300)1.71530058
176Epileptic encephalopathy (HP:0200134)1.71478163
177Prolonged bleeding time (HP:0003010)1.70149247
178Acute lymphatic leukemia (HP:0006721)1.70119946
179Genital tract atresia (HP:0001827)1.69867838
180Increased muscle lipid content (HP:0009058)1.68619262
181Hepatitis (HP:0012115)1.68192343
182Protrusio acetabuli (HP:0003179)1.67964468
183Ragged-red muscle fibers (HP:0003200)1.67667343
184* X-linked dominant inheritance (HP:0001423)1.66936795
185Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66849128
186Abnormality of alanine metabolism (HP:0010916)1.66849128
187Hyperalaninemia (HP:0003348)1.66849128
188Vaginal atresia (HP:0000148)1.66546206
189Generalized myoclonic seizures (HP:0002123)1.65605415
190Retinal dysplasia (HP:0007973)1.65089700
191Premature skin wrinkling (HP:0100678)1.64174536
192Severe visual impairment (HP:0001141)1.63461888
193Pachygyria (HP:0001302)1.63123277
194Leukocytosis (HP:0001974)1.62878095
195Skin rash (HP:0000988)1.62856268
196Abnormal drinking behavior (HP:0030082)1.62842014
197Polydipsia (HP:0001959)1.62842014
198Increased density of long bones (HP:0006392)1.61235839
199Viral hepatitis (HP:0006562)1.58948418

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K13.53976141
2KIT3.31442579
3EEF2K3.07883121
4TNIK3.02741643
5MAP4K22.98554497
6MAP3K102.85457435
7FRK2.76438079
8NEK12.64402777
9WNK32.62425795
10BCKDK2.52761068
11VRK22.50221373
12BMPR1B2.27863441
13TRIM282.27635787
14CSF1R2.26604887
15FGFR42.21943450
16NTRK22.18880393
17TXK2.17501926
18JAK32.08876771
19NUAK12.04282964
20STK102.01665097
21ERBB32.00765734
22ZAK1.99527451
23SIK11.96060848
24PLK21.93089993
25TYK21.85516301
26EIF2AK11.79478399
27FLT31.79170468
28TRIB31.77809287
29BCR1.73321250
30DMPK1.72431059
31MAPK111.71732877
32PLK31.71146096
33MAP3K121.70417081
34PTK61.67982621
35BMPR21.65982952
36CDK81.60907906
37MAP3K71.60468817
38ERN11.56856837
39PLK41.53033062
40FGFR31.46912456
41GRK11.43292276
42LRRK21.43263034
43PRKCH1.40227902
44MAP3K61.40166101
45LIMK11.38629970
46MARK21.36862809
47PBK1.36791769
48GRK61.36476796
49IKBKE1.35249024
50PAK41.31329192
51JAK11.30648137
52ITK1.28498048
53STK38L1.27596198
54ZAP701.25501613
55MAP3K41.23819076
56MAP2K71.20919878
57TEC1.19924640
58STK391.18501221
59ADRBK21.13841168
60BTK1.13796846
61CCNB11.13340785
62TSSK61.10944657
63OXSR11.10764309
64PINK11.10696827
65TESK21.09353567
66MAPK131.07607551
67PDK21.06712777
68TIE11.05061549
69STK161.04600368
70NME11.04283733
71SGK31.02952572
72MAPK71.02542269
73DYRK21.02190143
74TTK1.00980336
75CDK91.00493942
76FES1.00184875
77TBK10.97366052
78NEK20.96589597
79FER0.95277321
80MARK10.94135700
81MKNK20.93670676
82PLK10.92750339
83BUB10.92460057
84RIPK10.89995012
85LMTK20.88707206
86MKNK10.88586576
87PRKD20.87215833
88INSRR0.86546567
89BLK0.84693721
90CDK60.84598434
91MAPKAPK50.83771816
92PAK30.83476004
93SYK0.83326475
94LCK0.82956868
95MINK10.82657317
96PRKCI0.82295926
97WNK40.81606863
98PRKCE0.81127117
99ACVR1B0.78476273
100MAP3K130.77480755
101CSNK1G30.77389132
102BRSK20.76523664
103TLK10.74627138
104CASK0.73193371
105ALK0.72743568
106MARK30.72443746
107RPS6KB20.71711065
108PRKD30.71240392
109SCYL20.69837511
110DAPK10.68714244
111CDK40.68670254
112MAP2K40.68105908
113PRKCG0.68096237
114SGK20.67169602
115CSNK1G20.66714754
116HCK0.66607734
117PRKD10.66510085
118ATR0.65057563
119ATM0.64067336
120TAF10.63108249
121PHKG20.62605769
122PHKG10.62605769
123EIF2AK20.62561564
124CSNK1A1L0.62257642
125MAP2K30.61541081
126EIF2AK30.60119966
127SIK20.59990702
128HIPK20.57581546
129CDC70.56189254
130RPS6KA40.54595842
131CDK190.54230875
132PIM20.52888946
133PAK60.52456263
134ADRBK10.51440212
135CAMKK20.50762693
136CSNK1G10.48093269
137STK30.47378856
138JAK20.46932335
139MUSK0.46318859
140CLK10.46043577
141RPS6KA50.45836031
142CAMK2A0.45605178
143WEE10.45324315
144ILK0.44745406
145MST40.43904965
146CSNK1A10.43710039
147PRKACB0.43261863
148AURKB0.43258287
149PIK3CA0.42745796
150IKBKB0.42377810
151AKT20.42189638
152CHEK20.42041985
153CSNK1D0.41322157
154CSNK2A10.40847187
155PRKCQ0.40542290
156SIK30.40112712
157CDK30.39469251
158ERBB20.37833493
159ROCK20.37730448
160VRK10.37690746
161GRK70.37638196
162* PRKACA0.37491428
163MTOR0.37466281
164LYN0.37321047
165IGF1R0.37033102
166MAP3K80.36528264
167TESK10.36523561
168CAMK1G0.35684468
169MAPK90.34535481
170MAPK120.32990438
171MAP3K110.32615210
172FYN0.32586186
173MAPK30.31560881
174PIM10.30510476
175MAP3K50.29749534
176SRPK10.29628580

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.96139220
2Oxidative phosphorylation_Homo sapiens_hsa001903.89102140
3Primary immunodeficiency_Homo sapiens_hsa053403.75851256
4Caffeine metabolism_Homo sapiens_hsa002323.25958545
5Parkinsons disease_Homo sapiens_hsa050123.13838296
6Protein export_Homo sapiens_hsa030602.86523004
7Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.83630106
8Nitrogen metabolism_Homo sapiens_hsa009102.45521644
9Mismatch repair_Homo sapiens_hsa034302.34740202
10RNA polymerase_Homo sapiens_hsa030202.27864922
11Fatty acid biosynthesis_Homo sapiens_hsa000612.25477902
12B cell receptor signaling pathway_Homo sapiens_hsa046622.25203588
13Homologous recombination_Homo sapiens_hsa034402.22925102
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.20754246
15Huntingtons disease_Homo sapiens_hsa050162.16064930
16Phototransduction_Homo sapiens_hsa047442.03658062
17Alzheimers disease_Homo sapiens_hsa050101.98947403
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.95095218
19Propanoate metabolism_Homo sapiens_hsa006401.92756294
20Pancreatic cancer_Homo sapiens_hsa052121.90026158
21Sulfur metabolism_Homo sapiens_hsa009201.82835273
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.80078614
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.79178470
24Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.68824644
25Fanconi anemia pathway_Homo sapiens_hsa034601.66964425
26Measles_Homo sapiens_hsa051621.63607083
27Collecting duct acid secretion_Homo sapiens_hsa049661.58925017
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.57359810
29Fatty acid elongation_Homo sapiens_hsa000621.56034023
30RNA degradation_Homo sapiens_hsa030181.55593744
31Basal transcription factors_Homo sapiens_hsa030221.52113140
32Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.52067727
33Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.50965301
34Osteoclast differentiation_Homo sapiens_hsa043801.50154910
35Toll-like receptor signaling pathway_Homo sapiens_hsa046201.49012657
36Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.47075986
37Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46236223
38Colorectal cancer_Homo sapiens_hsa052101.45359799
39Folate biosynthesis_Homo sapiens_hsa007901.43958815
40Platelet activation_Homo sapiens_hsa046111.40709478
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39384812
42Peroxisome_Homo sapiens_hsa041461.38753281
43T cell receptor signaling pathway_Homo sapiens_hsa046601.37660248
44Hepatitis B_Homo sapiens_hsa051611.37529195
45Pyruvate metabolism_Homo sapiens_hsa006201.36767376
46Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.33740006
47Leishmaniasis_Homo sapiens_hsa051401.33345700
48Circadian rhythm_Homo sapiens_hsa047101.32113274
49Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.31250691
50Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.29610253
51Ribosome_Homo sapiens_hsa030101.27507642
52Pyrimidine metabolism_Homo sapiens_hsa002401.23757708
53Butanoate metabolism_Homo sapiens_hsa006501.23700891
54DNA replication_Homo sapiens_hsa030301.23408264
55Purine metabolism_Homo sapiens_hsa002301.23074007
56* Viral carcinogenesis_Homo sapiens_hsa052031.22876905
57Steroid biosynthesis_Homo sapiens_hsa001001.22731429
58GABAergic synapse_Homo sapiens_hsa047271.21754348
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.21554674
60Sulfur relay system_Homo sapiens_hsa041221.20425967
61Nucleotide excision repair_Homo sapiens_hsa034201.19312711
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.19004259
63Cell cycle_Homo sapiens_hsa041101.17799755
64Intestinal immune network for IgA production_Homo sapiens_hsa046721.16963751
65Chronic myeloid leukemia_Homo sapiens_hsa052201.16643172
66HTLV-I infection_Homo sapiens_hsa051661.16629553
67Herpes simplex infection_Homo sapiens_hsa051681.13702676
68Leukocyte transendothelial migration_Homo sapiens_hsa046701.12134903
69Pentose phosphate pathway_Homo sapiens_hsa000301.12024780
70Cardiac muscle contraction_Homo sapiens_hsa042601.11332705
71Acute myeloid leukemia_Homo sapiens_hsa052211.08743426
72Selenocompound metabolism_Homo sapiens_hsa004501.08071101
73Tryptophan metabolism_Homo sapiens_hsa003801.06512730
74Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.06491365
75Jak-STAT signaling pathway_Homo sapiens_hsa046301.06184347
76Olfactory transduction_Homo sapiens_hsa047401.03458588
77Cysteine and methionine metabolism_Homo sapiens_hsa002701.02673245
78Lysine degradation_Homo sapiens_hsa003101.02301951
79Nicotine addiction_Homo sapiens_hsa050331.00652298
80Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.00426699
81Transcriptional misregulation in cancer_Homo sapiens_hsa052021.00071572
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.98918110
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.98829214
84Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.98755659
85Primary bile acid biosynthesis_Homo sapiens_hsa001200.98016315
86NF-kappa B signaling pathway_Homo sapiens_hsa040640.97543216
87Non-small cell lung cancer_Homo sapiens_hsa052230.97506917
88RNA transport_Homo sapiens_hsa030130.97449825
89Shigellosis_Homo sapiens_hsa051310.97180199
90Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.96666555
91One carbon pool by folate_Homo sapiens_hsa006700.95874414
92Neurotrophin signaling pathway_Homo sapiens_hsa047220.94353639
93Biosynthesis of amino acids_Homo sapiens_hsa012300.92703836
94beta-Alanine metabolism_Homo sapiens_hsa004100.90339818
95Glycosaminoglycan degradation_Homo sapiens_hsa005310.90306779
96Antigen processing and presentation_Homo sapiens_hsa046120.89920549
97Metabolic pathways_Homo sapiens_hsa011000.89002823
98Apoptosis_Homo sapiens_hsa042100.87450382
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86861049
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.84028064
101Base excision repair_Homo sapiens_hsa034100.83272707
102Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82578425
103Glutathione metabolism_Homo sapiens_hsa004800.80365231
104Systemic lupus erythematosus_Homo sapiens_hsa053220.80186161
105Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78834186
106Linoleic acid metabolism_Homo sapiens_hsa005910.78418983
107Glutamatergic synapse_Homo sapiens_hsa047240.76552244
108AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.75612595
109Hepatitis C_Homo sapiens_hsa051600.75531010
110RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.74572171
111Adipocytokine signaling pathway_Homo sapiens_hsa049200.74208385
112Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.74162359
113Pentose and glucuronate interconversions_Homo sapiens_hsa000400.72692762
114Non-homologous end-joining_Homo sapiens_hsa034500.72344543
115mTOR signaling pathway_Homo sapiens_hsa041500.72309789
116Hematopoietic cell lineage_Homo sapiens_hsa046400.71547086
117Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70428478
118Central carbon metabolism in cancer_Homo sapiens_hsa052300.69652527
119Influenza A_Homo sapiens_hsa051640.69351811
120* Alcoholism_Homo sapiens_hsa050340.69195114
121Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.68152538
122Proteoglycans in cancer_Homo sapiens_hsa052050.68005629
123Epstein-Barr virus infection_Homo sapiens_hsa051690.66624808
124Long-term potentiation_Homo sapiens_hsa047200.66499430
125Circadian entrainment_Homo sapiens_hsa047130.66007362
126Endometrial cancer_Homo sapiens_hsa052130.65656036
127Oocyte meiosis_Homo sapiens_hsa041140.65626548
128Malaria_Homo sapiens_hsa051440.64914785
129Vibrio cholerae infection_Homo sapiens_hsa051100.64016434
130Maturity onset diabetes of the young_Homo sapiens_hsa049500.63492695
131Ether lipid metabolism_Homo sapiens_hsa005650.62757829
132alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62680485
133Taste transduction_Homo sapiens_hsa047420.61733712
134AMPK signaling pathway_Homo sapiens_hsa041520.61208667
135Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60854746
136Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.60717650
137MicroRNAs in cancer_Homo sapiens_hsa052060.59806614
138Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59398146
139Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59254272
140Lysosome_Homo sapiens_hsa041420.57897368
141Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57463344
142Inositol phosphate metabolism_Homo sapiens_hsa005620.57420543
143Phospholipase D signaling pathway_Homo sapiens_hsa040720.57212651
144Spliceosome_Homo sapiens_hsa030400.57192738
145Synaptic vesicle cycle_Homo sapiens_hsa047210.56945862
146Chemokine signaling pathway_Homo sapiens_hsa040620.56378197
147Morphine addiction_Homo sapiens_hsa050320.56177226
148Thyroid cancer_Homo sapiens_hsa052160.55071356
149Steroid hormone biosynthesis_Homo sapiens_hsa001400.54506716
150Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53305960
151Arachidonic acid metabolism_Homo sapiens_hsa005900.53101460
152Retinol metabolism_Homo sapiens_hsa008300.52693962
153Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52150482
154Toxoplasmosis_Homo sapiens_hsa051450.51522811
155Tuberculosis_Homo sapiens_hsa051520.50370218
156Chemical carcinogenesis_Homo sapiens_hsa052040.50239382
157Phosphatidylinositol signaling system_Homo sapiens_hsa040700.50016857
158Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.49584234
159Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.49472017
160TNF signaling pathway_Homo sapiens_hsa046680.49332698
161Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48565937
162Rap1 signaling pathway_Homo sapiens_hsa040150.46370084
163Fatty acid metabolism_Homo sapiens_hsa012120.46089340
1642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.45979281
165Arginine and proline metabolism_Homo sapiens_hsa003300.44378519
166Fatty acid degradation_Homo sapiens_hsa000710.42531525
167Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.40552582
168Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.39400718
169Fat digestion and absorption_Homo sapiens_hsa049750.39183392
170N-Glycan biosynthesis_Homo sapiens_hsa005100.38292048
171Sphingolipid signaling pathway_Homo sapiens_hsa040710.37695219
172Tyrosine metabolism_Homo sapiens_hsa003500.37371735
173Rheumatoid arthritis_Homo sapiens_hsa053230.37186034
174Insulin resistance_Homo sapiens_hsa049310.35600699
175Vitamin B6 metabolism_Homo sapiens_hsa007500.34752328
176MAPK signaling pathway_Homo sapiens_hsa040100.34087661
177Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.33626781
178Carbon metabolism_Homo sapiens_hsa012000.33439125
179Drug metabolism - other enzymes_Homo sapiens_hsa009830.33195502
180Pancreatic secretion_Homo sapiens_hsa049720.32370608
181Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.32152668
182p53 signaling pathway_Homo sapiens_hsa041150.30918225

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