CLN8

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





Description: This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-alpha-amino acid transmembrane transport (GO:1902475)7.21431822
2axon ensheathment in central nervous system (GO:0032291)6.19052934
3central nervous system myelination (GO:0022010)6.19052934
4negative regulation of translation involved in gene silencing by miRNA (GO:0035278)6.10822105
5negative regulation of translation, ncRNA-mediated (GO:0040033)6.10822105
6regulation of translation, ncRNA-mediated (GO:0045974)6.10822105
7positive regulation of SMAD protein import into nucleus (GO:0060391)5.66914492
8fatty acid elongation (GO:0030497)5.55612378
9pre-miRNA processing (GO:0031054)5.40531335
10L-serine metabolic process (GO:0006563)5.38322871
11positive regulation by symbiont of host defense response (GO:0052509)4.99344483
12modulation by symbiont of host defense response (GO:0052031)4.99344483
13modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.99344483
14modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.99344483
15positive regulation by organism of defense response of other organism involved in symbiotic interact4.99344483
16modulation by symbiont of host immune response (GO:0052553)4.99344483
17regulation of telomere maintenance via telomerase (GO:0032210)4.59856529
18regulation of gene silencing (GO:0060968)4.53018069
19nodal signaling pathway (GO:0038092)4.48402420
20cell fate commitment involved in formation of primary germ layer (GO:0060795)4.42395920
21response to lipoprotein particle (GO:0055094)4.39365671
22regulation of cell fate specification (GO:0042659)4.33209026
23long-chain fatty acid biosynthetic process (GO:0042759)4.31999869
24lysine catabolic process (GO:0006554)4.31230064
25lysine metabolic process (GO:0006553)4.31230064
26response to methylmercury (GO:0051597)4.29546199
27regulation of mitotic spindle checkpoint (GO:1903504)4.20048305
28regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.20048305
29negative regulation of gene silencing (GO:0060969)4.17745624
30basic amino acid transport (GO:0015802)4.12565320
31heme transport (GO:0015886)4.10787288
32IMP biosynthetic process (GO:0006188)4.10394704
33microglial cell activation (GO:0001774)4.10238936
34regulation of nuclear cell cycle DNA replication (GO:0033262)4.07237072
35regulation of interferon-beta biosynthetic process (GO:0045357)4.03675713
36transcytosis (GO:0045056)3.99315448
37regulation of helicase activity (GO:0051095)3.98264939
38cholesterol biosynthetic process (GO:0006695)3.96388882
39regulation of chromatin silencing (GO:0031935)3.94816903
40negative regulation of DNA-dependent DNA replication (GO:2000104)3.87946537
41regulation of cell fate commitment (GO:0010453)3.84827980
42neutrophil activation involved in immune response (GO:0002283)3.84607254
43ensheathment of neurons (GO:0007272)3.84353542
44axon ensheathment (GO:0008366)3.84353542
45somatic hypermutation of immunoglobulin genes (GO:0016446)3.83777475
46somatic diversification of immune receptors via somatic mutation (GO:0002566)3.83777475
47myelination (GO:0042552)3.79521015
48anterior/posterior axis specification, embryo (GO:0008595)3.78012649
49negative regulation of telomerase activity (GO:0051974)3.77766818
50regulation of SMAD protein import into nucleus (GO:0060390)3.77653253
51positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.75224144
52macrophage activation involved in immune response (GO:0002281)3.71240873
53protein complex localization (GO:0031503)3.69540722
54plasma lipoprotein particle clearance (GO:0034381)3.69283005
55L-phenylalanine catabolic process (GO:0006559)3.68846449
56erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.68846449
57kynurenine metabolic process (GO:0070189)3.66543331
58single strand break repair (GO:0000012)3.65783343
59IMP metabolic process (GO:0046040)3.64711055
60sterol biosynthetic process (GO:0016126)3.60838982
61lung-associated mesenchyme development (GO:0060484)3.60672324
62negative regulation of androgen receptor signaling pathway (GO:0060766)3.59663739
63amyloid precursor protein metabolic process (GO:0042982)3.58146453
64regulation of mesoderm development (GO:2000380)3.56788622
65tryptophan catabolic process (GO:0006569)3.47524427
66indole-containing compound catabolic process (GO:0042436)3.47524427
67indolalkylamine catabolic process (GO:0046218)3.47524427
68creatine metabolic process (GO:0006600)3.47197515
69regulation of collateral sprouting (GO:0048670)3.46427340
70regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.46328635
71branching involved in labyrinthine layer morphogenesis (GO:0060670)3.45792327
72regulation of histone H3-K9 methylation (GO:0051570)3.43025405
73L-phenylalanine metabolic process (GO:0006558)3.38485459
74erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.38485459
75inner ear receptor cell development (GO:0060119)3.30044567
76low-density lipoprotein particle clearance (GO:0034383)3.29572990
77* import into cell (GO:0098657)3.27960678
78very long-chain fatty acid metabolic process (GO:0000038)3.26067261
79peptidyl-glutamic acid carboxylation (GO:0017187)3.25055971
80protein carboxylation (GO:0018214)3.25055971
81atrial cardiac muscle cell action potential (GO:0086014)3.24157023
82amyloid precursor protein catabolic process (GO:0042987)3.23227534
83long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.22641030
84serine family amino acid catabolic process (GO:0009071)3.21665115
85sulfation (GO:0051923)3.20691684
86glycosylceramide metabolic process (GO:0006677)3.17174327
87regulation of DNA methylation (GO:0044030)3.16437859
88cholesterol efflux (GO:0033344)3.14477470
89cofactor catabolic process (GO:0051187)3.12908622
90very-low-density lipoprotein particle assembly (GO:0034379)3.11614560
91N-acetylglucosamine metabolic process (GO:0006044)3.11525536
92kidney morphogenesis (GO:0060993)3.11485728
93triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.11350838
94fatty-acyl-CoA biosynthetic process (GO:0046949)3.03266159
95aspartate family amino acid catabolic process (GO:0009068)3.02307041
96negative regulation of histone methylation (GO:0031061)3.02156338
97mannose metabolic process (GO:0006013)3.02013191
98myelin maintenance (GO:0043217)3.00173767
99iron coordination entity transport (GO:1901678)2.99394800
100glomerular visceral epithelial cell development (GO:0072015)2.98726166
101positive regulation of toll-like receptor signaling pathway (GO:0034123)2.97512986
102purine nucleobase biosynthetic process (GO:0009113)2.96098591
103positive regulation of catenin import into nucleus (GO:0035413)2.95358284
104leukocyte migration involved in inflammatory response (GO:0002523)2.92967893
105aldehyde catabolic process (GO:0046185)2.92923902
106oligosaccharide catabolic process (GO:0009313)2.92755187
107regulation of hippo signaling (GO:0035330)2.91518196
108alpha-linolenic acid metabolic process (GO:0036109)2.90026996
109* L-amino acid import (GO:0043092)2.89283364
110tryptophan metabolic process (GO:0006568)2.88277503
111positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.88067127
112macrophage activation (GO:0042116)2.87921573
113regulation of stem cell maintenance (GO:2000036)2.86311576
114complement activation, alternative pathway (GO:0006957)2.86090263
115glycerophospholipid catabolic process (GO:0046475)2.84622576
116negative regulation of telomere maintenance (GO:0032205)2.83864473
117intracellular pH reduction (GO:0051452)2.83118892
118glycosphingolipid catabolic process (GO:0046479)2.82917456
119fibrinolysis (GO:0042730)2.82886207
120regulation of MHC class II biosynthetic process (GO:0045346)2.82826127
121heterochromatin organization (GO:0070828)2.82491872
122regulation of lipoprotein metabolic process (GO:0050746)2.79032787
123isoprenoid biosynthetic process (GO:0008299)2.77426750
124protein-lipid complex assembly (GO:0065005)2.75768034
125regulation of cholesterol storage (GO:0010885)2.75317241
126negative regulation of macroautophagy (GO:0016242)2.75215919
127water-soluble vitamin biosynthetic process (GO:0042364)2.74465172
128positive regulation of cholesterol efflux (GO:0010875)2.73895811
129telomere maintenance via telomerase (GO:0007004)2.73887366
130nucleobase biosynthetic process (GO:0046112)2.71796780
131respiratory burst (GO:0045730)2.70906803
132long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.70575377
133indolalkylamine metabolic process (GO:0006586)2.70547093
134positive regulation of hemostasis (GO:1900048)2.70011495
135positive regulation of blood coagulation (GO:0030194)2.70011495
136regulation of mononuclear cell migration (GO:0071675)2.69518782
137negative regulation of cell fate commitment (GO:0010454)2.68701489
138cell migration involved in gastrulation (GO:0042074)2.68591950
139NAD biosynthetic process (GO:0009435)2.67897504
140positive regulation of coagulation (GO:0050820)2.67774780
141* cholesterol metabolic process (GO:0008203)2.66888450
142ncRNA catabolic process (GO:0034661)2.66848742
143response to host immune response (GO:0052572)2.66396765
144response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.66396765
145positive regulation of chemokine secretion (GO:0090197)2.66151261
146female gonad development (GO:0008585)2.66146695
147phagocytosis, engulfment (GO:0006911)2.65873077
148response to xenobiotic stimulus (GO:0009410)2.64459583
149cellular response to thyroid hormone stimulus (GO:0097067)2.64368843
150UDP-N-acetylglucosamine metabolic process (GO:0006047)2.63728380
151plasma lipoprotein particle assembly (GO:0034377)2.63405161
152response to cholesterol (GO:0070723)2.61956773
153chromatin silencing (GO:0006342)2.61513557
154aromatic amino acid family catabolic process (GO:0009074)2.59134043
155N-acetylneuraminate metabolic process (GO:0006054)2.58303302
156fatty-acyl-CoA metabolic process (GO:0035337)2.57972043
157cellular response to cholesterol (GO:0071397)2.57939141
158positive regulation of osteoblast proliferation (GO:0033690)2.57345263
159negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.56517774
160regulation of interleukin-8 biosynthetic process (GO:0045414)2.56274903
161adhesion of symbiont to host cell (GO:0044650)2.55975724
162virion attachment to host cell (GO:0019062)2.55975724
163cofactor transport (GO:0051181)2.54773719
164dorsal/ventral axis specification (GO:0009950)2.54427367
165mitotic G2/M transition checkpoint (GO:0044818)2.54235221
166pH reduction (GO:0045851)2.54145881
167regulation of meiosis I (GO:0060631)2.53970266
168regulation of protein activation cascade (GO:2000257)2.53521073
169protoporphyrinogen IX metabolic process (GO:0046501)2.53503610
170organ growth (GO:0035265)2.53420261
171negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.52846398
172negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.52846398
173negative regulation of mitotic sister chromatid segregation (GO:0033048)2.52846398
174negative regulation of mitotic sister chromatid separation (GO:2000816)2.52846398
175negative regulation of sister chromatid segregation (GO:0033046)2.52846398
176serine family amino acid biosynthetic process (GO:0009070)2.52229028
177regulation of cholesterol biosynthetic process (GO:0045540)2.51787740
178response to thyroid hormone (GO:0097066)2.51177532
179mRNA transcription from RNA polymerase II promoter (GO:0042789)2.51148196
180regulation of cholesterol esterification (GO:0010872)2.51093282
181histone H3-K36 demethylation (GO:0070544)2.50516161
182response to lead ion (GO:0010288)2.50484112
183bile acid biosynthetic process (GO:0006699)2.50382130
184glycolipid catabolic process (GO:0019377)2.50260597
185phospholipid efflux (GO:0033700)2.50205929
186L-ascorbic acid metabolic process (GO:0019852)2.50135236
187DNA replication-dependent nucleosome assembly (GO:0006335)2.49044292
188DNA replication-dependent nucleosome organization (GO:0034723)2.49044292
189vitamin biosynthetic process (GO:0009110)2.48893960
190positive regulation of antigen processing and presentation (GO:0002579)2.46696606
191response to X-ray (GO:0010165)2.46194253
192folic acid transport (GO:0015884)2.45956404
193regulation of complement activation (GO:0030449)2.45713843
194regulation of cholesterol metabolic process (GO:0090181)2.44787938
195positive regulation of interferon-alpha production (GO:0032727)2.44029797
196* sterol metabolic process (GO:0016125)2.43956645
197regulation of gene silencing by RNA (GO:0060966)10.0587968
198regulation of posttranscriptional gene silencing (GO:0060147)10.0587968
199regulation of gene silencing by miRNA (GO:0060964)10.0587968

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.11401210
2* IRF8_21731497_ChIP-ChIP_J774_Mouse4.57218357
3* RXR_22158963_ChIP-Seq_LIVER_Mouse3.73076010
4Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.70956245
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.55864920
6IRF8_27001747_Chip-Seq_BMDM_Mouse3.44453075
7NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.43457929
8* LXR_22158963_ChIP-Seq_LIVER_Mouse3.38145760
9* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.23609690
10EGR1_23403033_ChIP-Seq_LIVER_Mouse3.21787586
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.12616223
12ZNF274_21170338_ChIP-Seq_K562_Hela3.09901648
13* PPARA_22158963_ChIP-Seq_LIVER_Mouse3.04315600
14NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.87966255
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.77752466
16* FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.73321012
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.63262938
18POU5F1_16153702_ChIP-ChIP_HESCs_Human2.59394157
19NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.54632082
20VDR_22108803_ChIP-Seq_LS180_Human2.47639793
21CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.43702515
22FLI1_27457419_Chip-Seq_LIVER_Mouse2.34179739
23TCF3_18692474_ChIP-Seq_MEFs_Mouse2.34157291
24POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.34116346
25TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.34116346
26SOX2_16153702_ChIP-ChIP_HESCs_Human2.31653977
27TCF3_18692474_ChIP-Seq_MESCs_Mouse2.31011930
28POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.25494831
29NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.20450962
30PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.13064513
31NANOG_16153702_ChIP-ChIP_HESCs_Human2.13046620
32SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.12341288
33VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.08252368
34GATA1_26923725_Chip-Seq_HPCs_Mouse2.07521867
35CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.06291172
36IRF8_22096565_ChIP-ChIP_GC-B_Human2.05301168
37GATA1_22025678_ChIP-Seq_K562_Human2.04545297
38ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.02014923
39GBX2_23144817_ChIP-Seq_PC3_Human1.99340021
40P300_19829295_ChIP-Seq_ESCs_Human1.92464478
41PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.92230517
42* GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91948139
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.91103612
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.86949178
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.85762948
46GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.84711592
47E2F7_22180533_ChIP-Seq_HELA_Human1.82517951
48CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.82285588
49STAT6_21828071_ChIP-Seq_BEAS2B_Human1.77863919
50CDX2_19796622_ChIP-Seq_MESCs_Mouse1.75948702
51ESR2_21235772_ChIP-Seq_MCF-7_Human1.75554233
52* GATA1_19941826_ChIP-Seq_K562_Human1.70085432
53NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.67255268
54NRF2_20460467_ChIP-Seq_MEFs_Mouse1.67255268
55NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.66322071
56* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.64923076
57SALL1_21062744_ChIP-ChIP_HESCs_Human1.63346764
58GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.63281174
59NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.61085445
60THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.60969778
61PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.55606522
62SMAD3_21741376_ChIP-Seq_HESCs_Human1.55252274
63MYB_21317192_ChIP-Seq_ERMYB_Mouse1.55220656
64PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.51150170
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51001522
66TBX3_20139965_ChIP-Seq_ESCs_Mouse1.50393408
67TBX3_20139965_ChIP-Seq_MESCs_Mouse1.50277539
68SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.49846739
69E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.49807610
70PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.49219761
71RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.48021536
72SMAD3_21741376_ChIP-Seq_ESCs_Human1.47043730
73NANOG_18692474_ChIP-Seq_MESCs_Mouse1.45979923
74CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.44032409
75EWS_26573619_Chip-Seq_HEK293_Human1.41224177
76NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.38202040
77VDR_24787735_ChIP-Seq_THP-1_Human1.37173605
78SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.36920311
79RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.36511981
80TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34212413
81SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.32764351
82* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.30268325
83PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.29466093
84TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.28474455
85FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27292940
86CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.25996930
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.25601946
88TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.25351341
89PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23267570
90TRIM28_21343339_ChIP-Seq_HEK293_Human1.22674625
91WT1_19549856_ChIP-ChIP_CCG9911_Human1.22166546
92SMAD4_21741376_ChIP-Seq_HESCs_Human1.21197936
93* GATA2_21666600_ChIP-Seq_HMVEC_Human1.20996029
94* GATA2_19941826_ChIP-Seq_K562_Human1.20254714
95BRD4_27068464_Chip-Seq_AML-cells_Mouse1.19711850
96SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.18708942
97IGF1R_20145208_ChIP-Seq_DFB_Human1.18598467
98SOX2_20726797_ChIP-Seq_SW620_Human1.18047417
99POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.17923185
100* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.17565768
101NANOG_16518401_ChIP-PET_MESCs_Mouse1.15565377
102NANOG_18692474_ChIP-Seq_MEFs_Mouse1.14931305
103KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.14909292
104ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.14279406
105ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.13780725
106* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11668163
107EOMES_21245162_ChIP-Seq_HESCs_Human1.10011375
108ESR1_21235772_ChIP-Seq_MCF-7_Human1.09806690
109IRF1_19129219_ChIP-ChIP_H3396_Human1.09778709
110* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09738547
111NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.09659590
112TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.09493746
113PPAR_26484153_Chip-Seq_NCI-H1993_Human1.09223158
114* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06822601
115SOX2_18692474_ChIP-Seq_MESCs_Mouse1.06413296
116SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.05950137
117FOXA2_19822575_ChIP-Seq_HepG2_Human1.04706540
118HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.04074274
119PU_27001747_Chip-Seq_BMDM_Mouse1.03161859
120SOX2_18555785_ChIP-Seq_MESCs_Mouse1.02856583
121* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02807825
122UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02189339
123SCL_19346495_ChIP-Seq_HPC-7_Human1.00847112
124BCAT_22108803_ChIP-Seq_LS180_Human1.00736408
125SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.00518901
126NANOG_19829295_ChIP-Seq_ESCs_Human0.99895504
127SOX2_19829295_ChIP-Seq_ESCs_Human0.99895504
128* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96974754
129SOX2_27498859_Chip-Seq_STOMACH_Mouse0.95916489
130SMAD3_21741376_ChIP-Seq_EPCs_Human0.94761049
131CJUN_26792858_Chip-Seq_BT549_Human0.94567581
132* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94556464
133SOX2_18692474_ChIP-Seq_MEFs_Mouse0.94484791
134SMAD4_21741376_ChIP-Seq_EPCs_Human0.94101119
135CLOCK_20551151_ChIP-Seq_293T_Human0.93753609
136TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93416094
137TCF4_22108803_ChIP-Seq_LS180_Human0.93391243
138POU5F1_16518401_ChIP-PET_MESCs_Mouse0.93022251
139EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.92797461
140TFEB_21752829_ChIP-Seq_HELA_Human0.92736858
141GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.91354509
142* GATA1_19941827_ChIP-Seq_MEL_Mouse0.88458822
143KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.87156964
144KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.87156964
145KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.87156964
146KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.87044176
147LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.86629535
148* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.85813049
149TAF15_26573619_Chip-Seq_HEK293_Human0.85304994
150* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.84662960
151AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83042908
152HTT_18923047_ChIP-ChIP_STHdh_Human0.82569417
153ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.82346146
154MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.82194326
155ER_23166858_ChIP-Seq_MCF-7_Human0.82053087
156KDM2B_26808549_Chip-Seq_REH_Human0.81949857
157KLF5_20875108_ChIP-Seq_MESCs_Mouse0.80579103
158KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.80542170
159EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.80162820
160HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.80129217
161SPI1_23127762_ChIP-Seq_K562_Human0.79864578
162STAT3_18555785_ChIP-Seq_MESCs_Mouse0.79539553
163CBP_20019798_ChIP-Seq_JUKART_Human0.78878258
164IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.78878258
165* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.78025665
166CTBP1_25329375_ChIP-Seq_LNCAP_Human0.77885320
167* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.77773399
168KAP1_27257070_Chip-Seq_ESCs_Mouse0.77687531
169RXR_22108803_ChIP-Seq_LS180_Human0.77661904
170RARG_19884340_ChIP-ChIP_MEFs_Mouse0.76999581
171* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.76753604
172DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.76378132
173GATA6_21074721_ChIP-Seq_CACO-2_Human0.76095645
174EGR1_19032775_ChIP-ChIP_M12_Human0.74404680
175* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74079804
176* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.73755348
177TP53_16413492_ChIP-PET_HCT116_Human0.71845682
178* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.69028458
179ERG_21242973_ChIP-ChIP_JURKAT_Human0.66619352
180RUNX_20019798_ChIP-Seq_JUKART_Human0.65673416
181* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.63916335
182TP63_17297297_ChIP-ChIP_HaCaT_Human0.63628688
183STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.63627505
184AR_21572438_ChIP-Seq_LNCaP_Human0.63281465

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002254_reproductive_system_inflammat8.54202723
2MP0009840_abnormal_foam_cell5.29210781
3MP0003941_abnormal_skin_development5.05617570
4MP0005058_abnormal_lysosome_morphology4.94846271
5MP0003690_abnormal_glial_cell4.19534085
6* MP0000920_abnormal_myelination3.62681273
7MP0006082_CNS_inflammation3.35210115
8MP0003890_abnormal_embryonic-extraembry3.33106146
9MP0003191_abnormal_cellular_cholesterol3.27074131
10MP0003950_abnormal_plasma_membrane3.19351371
11MP0004133_heterotaxia2.92755221
12MP0003656_abnormal_erythrocyte_physiolo2.92157503
13MP0008877_abnormal_DNA_methylation2.81707533
14MP0003195_calcinosis2.76926463
15MP0000604_amyloidosis2.69767783
16MP0002139_abnormal_hepatobiliary_system2.62836257
17MP0003172_abnormal_lysosome_physiology2.58473450
18MP0003806_abnormal_nucleotide_metabolis2.51466660
19MP0003646_muscle_fatigue2.49285222
20MP0005451_abnormal_body_composition2.45178226
21MP0008260_abnormal_autophagy2.38023925
22MP0005360_urolithiasis2.32987017
23MP0003693_abnormal_embryo_hatching2.27863207
24MP0008438_abnormal_cutaneous_collagen2.24932508
25MP0005085_abnormal_gallbladder_physiolo2.08592630
26MP0008875_abnormal_xenobiotic_pharmacok2.05543225
27MP0000579_abnormal_nail_morphology2.05526800
28MP0005365_abnormal_bile_salt2.02612776
29MP0009278_abnormal_bone_marrow2.01970623
30MP0005377_hearing/vestibular/ear_phenot1.99268058
31MP0003878_abnormal_ear_physiology1.99268058
32MP0002419_abnormal_innate_immunity1.91058629
33MP0009672_abnormal_birth_weight1.88561401
34MP0003329_amyloid_beta_deposits1.87704084
35MP0008057_abnormal_DNA_replication1.86472685
36MP0003718_maternal_effect1.82657999
37MP0005083_abnormal_biliary_tract1.80899448
38MP0005167_abnormal_blood-brain_barrier1.73210353
39MP0010329_abnormal_lipoprotein_level1.70291460
40* MP0003634_abnormal_glial_cell1.66257112
41MP0004147_increased_porphyrin_level1.58011993
42MP0003724_increased_susceptibility_to1.56692924
43MP0004957_abnormal_blastocyst_morpholog1.55736596
44MP0003136_yellow_coat_color1.51761286
45MP0003303_peritoneal_inflammation1.51601531
46MP0003075_altered_response_to1.50046500
47MP0003436_decreased_susceptibility_to1.49074854
48MP0005647_abnormal_sex_gland1.48119181
49MP0002118_abnormal_lipid_homeostasis1.47370761
50MP0005464_abnormal_platelet_physiology1.46573926
51MP0002837_dystrophic_cardiac_calcinosis1.45080168
52MP0004185_abnormal_adipocyte_glucose1.44974011
53MP0001485_abnormal_pinna_reflex1.44502013
54MP0004381_abnormal_hair_follicle1.44459680
55MP0001851_eye_inflammation1.40591512
56MP0000647_abnormal_sebaceous_gland1.39712145
57MP0003011_delayed_dark_adaptation1.39145921
58MP0000465_gastrointestinal_hemorrhage1.38921991
59MP0001533_abnormal_skeleton_physiology1.37033182
60MP0003186_abnormal_redox_activity1.36983536
61MP0008058_abnormal_DNA_repair1.29913906
62MP0003111_abnormal_nucleus_morphology1.28983767
63MP0005332_abnormal_amino_acid1.28806992
64MP0000343_altered_response_to1.25280901
65MP0001293_anophthalmia1.23434313
66MP0001542_abnormal_bone_strength1.22983122
67MP0008007_abnormal_cellular_replicative1.22627706
68MP0003787_abnormal_imprinting1.20242580
69MP0010307_abnormal_tumor_latency1.19480025
70MP0002736_abnormal_nociception_after1.17961103
71MP0003119_abnormal_digestive_system1.16423866
72MP0002148_abnormal_hypersensitivity_rea1.15168082
73MP0008469_abnormal_protein_level1.15049091
74MP0005164_abnormal_response_to1.13403707
75MP0005000_abnormal_immune_tolerance1.13289639
76MP0005257_abnormal_intraocular_pressure1.12670804
77MP0000609_abnormal_liver_physiology1.12188394
78* MP0003632_abnormal_nervous_system1.11947827
79MP0004947_skin_inflammation1.11382298
80MP0005171_absent_coat_pigmentation1.08848162
81MP0009764_decreased_sensitivity_to1.08645216
82MP0004019_abnormal_vitamin_homeostasis1.07300011
83MP0005025_abnormal_response_to1.06846389
84MP0003567_abnormal_fetal_cardiomyocyte1.06201358
85MP0010094_abnormal_chromosome_stability1.03829875
86MP0006035_abnormal_mitochondrial_morpho1.00507665
87MP0005166_decreased_susceptibility_to1.00341756
88MP0005584_abnormal_enzyme/coenzyme_acti0.99904205
89MP0003453_abnormal_keratinocyte_physiol0.98820808
90MP0002295_abnormal_pulmonary_circulatio0.98180409
91MP0002998_abnormal_bone_remodeling0.97880685
92MP0000747_muscle_weakness0.97773117
93* MP0002090_abnormal_vision0.96687535
94MP0005671_abnormal_response_to0.95612362
95MP0003137_abnormal_impulse_conducting0.92809537
96MP0001968_abnormal_touch/_nociception0.92064303
97MP0009763_increased_sensitivity_to0.90821152
98MP0002138_abnormal_hepatobiliary_system0.90693887
99MP0009703_decreased_birth_body0.89908978
100MP0009046_muscle_twitch0.88739676
101MP0001545_abnormal_hematopoietic_system0.88280777
102MP0005397_hematopoietic_system_phenotyp0.88280777
103MP0002111_abnormal_tail_morphology0.85871952
104MP0004142_abnormal_muscle_tone0.85797841
105MP0000383_abnormal_hair_follicle0.85716301
106MP0002452_abnormal_antigen_presenting0.85131658
107MP0008932_abnormal_embryonic_tissue0.82398055
108MP0005408_hypopigmentation0.81779282
109MP0002796_impaired_skin_barrier0.81181198
110MP0003937_abnormal_limbs/digits/tail_de0.80834937
111MP0006292_abnormal_olfactory_placode0.80509484
112MP0003448_altered_tumor_morphology0.80319799
113MP0009785_altered_susceptibility_to0.79919530
114MP0001849_ear_inflammation0.79543145
115* MP0002229_neurodegeneration0.78957479
116MP0001188_hyperpigmentation0.78144776
117MP0005319_abnormal_enzyme/_coenzyme0.78015432
118MP0009765_abnormal_xenobiotic_induced0.77801831
119MP0001853_heart_inflammation0.77582670
120MP0005387_immune_system_phenotype0.77542947
121MP0001790_abnormal_immune_system0.77542947
122MP0002723_abnormal_immune_serum0.77243524
123MP0002653_abnormal_ependyma_morphology0.77040494
124MP0001177_atelectasis0.76452938
125MP0005197_abnormal_uvea_morphology0.75652763
126MP0001835_abnormal_antigen_presentation0.75589869
127MP0003633_abnormal_nervous_system0.75479155
128MP0005595_abnormal_vascular_smooth0.73384975
129* MP0003631_nervous_system_phenotype0.73371794
130MP0001730_embryonic_growth_arrest0.72821884
131MP0003566_abnormal_cell_adhesion0.70904259
132MP0005551_abnormal_eye_electrophysiolog0.70273705
133MP0010678_abnormal_skin_adnexa0.69833254
134MP0001845_abnormal_inflammatory_respons0.69183816
135MP0005410_abnormal_fertilization0.68693097
136MP0004130_abnormal_muscle_cell0.68459490
137MP0001661_extended_life_span0.68375412
138MP0002933_joint_inflammation0.67580177
139MP0001958_emphysema0.67509549
140MP0001666_abnormal_nutrient_absorption0.66402387
141MP0000358_abnormal_cell_content/0.66023311
142MP0002084_abnormal_developmental_patter0.65427866
143MP0004883_abnormal_blood_vessel0.64861922
144MP0005310_abnormal_salivary_gland0.64038888
145MP0004510_myositis0.63735935
146MP0000598_abnormal_liver_morphology0.63387958
147MP0008873_increased_physiological_sensi0.62764594
148MP0004885_abnormal_endolymph0.61538772
149MP0003121_genomic_imprinting0.61282942
150MP0005390_skeleton_phenotype0.60960239
151MP0002085_abnormal_embryonic_tissue0.60897675
152MP0001243_abnormal_dermal_layer0.60860615
153MP0009643_abnormal_urine_homeostasis0.60077415
154MP0002277_abnormal_respiratory_mucosa0.59869072
155MP0001486_abnormal_startle_reflex0.59838881
156MP0002733_abnormal_thermal_nociception0.59223872
157MP0005165_increased_susceptibility_to0.59172263
158MP0004270_analgesia0.59155925
159MP0010352_gastrointestinal_tract_polyps0.59029924
160* MP0001324_abnormal_eye_pigmentation0.58920437
161MP0004742_abnormal_vestibular_system0.57785031
162MP0005379_endocrine/exocrine_gland_phen0.56870440
163MP0005380_embryogenesis_phenotype0.56507707
164MP0001672_abnormal_embryogenesis/_devel0.56507707
165MP0000371_diluted_coat_color0.56400366
166MP0005395_other_phenotype0.55525187
167MP0001984_abnormal_olfaction0.52645090

Predicted human phenotypes

RankGene SetZ-score
1Axonal loss (HP:0003447)5.51314920
2Systemic lupus erythematosus (HP:0002725)5.22900049
3Neurofibrillary tangles (HP:0002185)5.05541012
4Vacuolated lymphocytes (HP:0001922)4.46515371
5Abnormality of glycolipid metabolism (HP:0010969)4.36900341
6Abnormality of liposaccharide metabolism (HP:0010968)4.36900341
7Abnormality of glycosphingolipid metabolism (HP:0004343)4.36900341
8Abnormality of the labia minora (HP:0012880)4.33094461
9* Increased cerebral lipofuscin (HP:0011813)4.29777759
10Multiple enchondromatosis (HP:0005701)4.24925156
11Complement deficiency (HP:0004431)4.03734086
12Abnormality of macrophages (HP:0004311)3.93759000
13Glomerulonephritis (HP:0000099)3.88750406
14Xanthomatosis (HP:0000991)3.87991091
15Septo-optic dysplasia (HP:0100842)3.86329859
16Hyperlipoproteinemia (HP:0010980)3.83405350
17Hepatosplenomegaly (HP:0001433)3.70621699
18Cerebral inclusion bodies (HP:0100314)3.64510377
19Colon cancer (HP:0003003)3.61005988
20* Increased neuronal autofluorescent lipopigment (HP:0002074)3.58327246
21Peripheral demyelination (HP:0011096)3.53022611
22Dysostosis multiplex (HP:0000943)3.52401160
23Abolished electroretinogram (ERG) (HP:0000550)3.49902276
24Parakeratosis (HP:0001036)3.48413997
25Recurrent gram-negative bacterial infections (HP:0005420)3.44404653
26Degeneration of the lateral corticospinal tracts (HP:0002314)3.43364975
27Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.43364975
28Recurrent abscess formation (HP:0002722)3.38676175
29Abnormality of complement system (HP:0005339)3.27875098
30Spastic diplegia (HP:0001264)3.19656836
31Inappropriate behavior (HP:0000719)3.19211806
32Choanal stenosis (HP:0000452)3.15396449
33Protruding tongue (HP:0010808)3.15353726
34Recurrent bacterial skin infections (HP:0005406)3.14906172
35Abnormality of aromatic amino acid family metabolism (HP:0004338)3.12300490
36Loss of speech (HP:0002371)3.10720856
37* Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.10430151
38Genetic anticipation (HP:0003743)3.05337653
39Intrahepatic cholestasis (HP:0001406)3.00159167
40Supranuclear gaze palsy (HP:0000605)2.98773693
41Prolonged neonatal jaundice (HP:0006579)2.98753117
42Disinhibition (HP:0000734)2.96986032
43Homocystinuria (HP:0002156)2.94981664
44Abnormality of homocysteine metabolism (HP:0010919)2.94981664
45Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.90287825
46Myocardial infarction (HP:0001658)2.89938295
47Thick nail (HP:0001805)2.86602317
48Joint hemorrhage (HP:0005261)2.78761030
49Amyloidosis (HP:0011034)2.78302595
50Segmental peripheral demyelination/remyelination (HP:0003481)2.73040388
51Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.72705091
52Deep venous thrombosis (HP:0002625)2.70757175
53Neuronal loss in central nervous system (HP:0002529)2.68347088
54Stenosis of the external auditory canal (HP:0000402)2.65934085
55Hyperglycinuria (HP:0003108)2.65031955
56Carpal bone hypoplasia (HP:0001498)2.64238579
57Eczematoid dermatitis (HP:0000976)2.61513161
58Spastic paraparesis (HP:0002313)2.61122143
59Premature rupture of membranes (HP:0001788)2.58002276
60Hematochezia (HP:0002573)2.54541445
61Hepatoblastoma (HP:0002884)2.54136620
62Ependymoma (HP:0002888)2.53848877
63Hypoplasia of the pons (HP:0012110)2.52801215
64Abnormality of the corticospinal tract (HP:0002492)2.52407404
65Short hallux (HP:0010109)2.51538141
66Onion bulb formation (HP:0003383)2.50750539
67Prolonged partial thromboplastin time (HP:0003645)2.48253437
68Paraparesis (HP:0002385)2.47710829
69Congenital ichthyosiform erythroderma (HP:0007431)2.46026274
70Hyperglycinemia (HP:0002154)2.45003447
71Progressive neurologic deterioration (HP:0002344)2.44975137
72Hypoalphalipoproteinemia (HP:0003233)2.44120657
73Aplasia/Hypoplasia of the hallux (HP:0008362)2.43677789
74Urinary bladder sphincter dysfunction (HP:0002839)2.40789946
75Pathologic fracture (HP:0002756)2.40641079
76Retinal atrophy (HP:0001105)2.39460205
77Abnormality of the pons (HP:0007361)2.38786459
78Mutism (HP:0002300)2.38391313
79Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.36716963
80Spastic tetraparesis (HP:0001285)2.35973496
81Cortical dysplasia (HP:0002539)2.33641319
82Abnormality of glycine metabolism (HP:0010895)2.33164605
83Abnormality of serine family amino acid metabolism (HP:0010894)2.33164605
84Progressive inability to walk (HP:0002505)2.33130761
85Autoimmune thrombocytopenia (HP:0001973)2.32430579
86Increased serum ferritin (HP:0003281)2.30519169
87Inability to walk (HP:0002540)2.30081696
88Mucopolysacchariduria (HP:0008155)2.27122302
89Urinary glycosaminoglycan excretion (HP:0003541)2.27122302
90Bilateral microphthalmos (HP:0007633)2.25679543
91Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.24753363
92Upper motor neuron abnormality (HP:0002127)2.22969843
93Nephroblastoma (Wilms tumor) (HP:0002667)2.22112088
94Conjunctival telangiectasia (HP:0000524)2.21688662
95Hypercholesterolemia (HP:0003124)2.18092964
96Abnormality of serum amino acid levels (HP:0003112)2.16804976
97Abnormality of polysaccharide metabolism (HP:0011012)2.14922450
98Abnormality of glycosaminoglycan metabolism (HP:0004371)2.14922450
99Abnormality of mucopolysaccharide metabolism (HP:0011020)2.14922450
100Abnormality of the vasculature of the conjunctiva (HP:0008054)2.14566138
101Stomach cancer (HP:0012126)2.14006891
102Cerebral hypomyelination (HP:0006808)2.13384669
103Abnormality of monocarboxylic acid metabolism (HP:0010996)2.11570417
104Abnormality of iron homeostasis (HP:0011031)2.10539254
105Progressive cerebellar ataxia (HP:0002073)2.10117669
106Slow saccadic eye movements (HP:0000514)2.09927042
107Epidermoid cyst (HP:0200040)2.09323878
108Birth length less than 3rd percentile (HP:0003561)2.07773992
109Agnosia (HP:0010524)2.07054162
110Peripheral hypomyelination (HP:0007182)2.06761935
111Breast aplasia (HP:0100783)2.06381954
112Optic nerve hypoplasia (HP:0000609)2.05487238
113Purpura (HP:0000979)2.05023095
114Urinary incontinence (HP:0000020)2.04950934
115Decreased electroretinogram (ERG) amplitude (HP:0000654)2.04401823
116Myelomeningocele (HP:0002475)2.03563289
117Embryonal renal neoplasm (HP:0011794)2.02843335
118Prostate neoplasm (HP:0100787)2.02769901
119Absent septum pellucidum (HP:0001331)2.02107829
120Fused cervical vertebrae (HP:0002949)2.01952198
121Gaze-evoked nystagmus (HP:0000640)2.00027847
122Erythroderma (HP:0001019)1.99544003
123Recurrent skin infections (HP:0001581)1.96741079
124Gastrointestinal carcinoma (HP:0002672)1.96039233
125Malignant gastrointestinal tract tumors (HP:0006749)1.96039233
126Cellular immunodeficiency (HP:0005374)1.94326719
127Sensory axonal neuropathy (HP:0003390)1.93743863
128Maternal diabetes (HP:0009800)1.93061333
129Osteolytic defects of the phalanges of the hand (HP:0009771)1.92723818
130Osteolytic defects of the hand bones (HP:0009699)1.92723818
131Abnormality of the common coagulation pathway (HP:0010990)1.91143275
132Nephritis (HP:0000123)1.90350881
133Pendular nystagmus (HP:0012043)1.90218720
134Abnormal gallbladder morphology (HP:0012437)1.90082031
135Hypolipoproteinemia (HP:0010981)1.89663955
136Opisthotonus (HP:0002179)1.88487941
137Abnormality of methionine metabolism (HP:0010901)1.87377241
138Apathy (HP:0000741)1.84738373
139Anencephaly (HP:0002323)1.84020440
140Steatorrhea (HP:0002570)1.83490558
141Protuberant abdomen (HP:0001538)1.83178015
142Personality changes (HP:0000751)1.82690236
143Hypophosphatemic rickets (HP:0004912)1.82094945
144Global brain atrophy (HP:0002283)1.81633161
145Abnormality of transition element cation homeostasis (HP:0011030)1.81512880
146Abnormality of glycolysis (HP:0004366)1.81050445
147Increased serum pyruvate (HP:0003542)1.81050445
148Polyphagia (HP:0002591)1.80212114
149Abnormality of the septum pellucidum (HP:0007375)1.79874089
150Methylmalonic aciduria (HP:0012120)1.79718694
151Disproportionate tall stature (HP:0001519)1.79500863
152Diminished motivation (HP:0000745)1.79164519
153Ileus (HP:0002595)1.77373400
154Abnormal gallbladder physiology (HP:0012438)1.77081671
155Cholecystitis (HP:0001082)1.77081671
156Selective tooth agenesis (HP:0001592)1.76646210
157Cholelithiasis (HP:0001081)1.76598310
158Stomatitis (HP:0010280)1.76197583
159Amaurosis fugax (HP:0100576)1.73830337
160Esophageal atresia (HP:0002032)1.73765950
161Absent hair (HP:0002298)1.72402353
162Uterine neoplasm (HP:0010784)1.71952828
163Diplopia (HP:0000651)1.71487192
164Abnormality of binocular vision (HP:0011514)1.71487192
165Meckel diverticulum (HP:0002245)1.70164718
166Biliary tract neoplasm (HP:0100574)1.69559353
167Macroglossia (HP:0000158)1.69387524
168Chronic bronchitis (HP:0004469)1.67786927
169Aplasia/Hypoplasia of the breasts (HP:0010311)1.67624903
170Hypogonadotrophic hypogonadism (HP:0000044)1.67327831
171Dysphonia (HP:0001618)1.64544927
172Pancreatic cysts (HP:0001737)1.64094482
173Abnormality of the ileum (HP:0001549)1.63714008
174Erectile abnormalities (HP:0100639)1.63323647
175Rhabdomyosarcoma (HP:0002859)1.62052630
176Medulloblastoma (HP:0002885)1.60306553
177Depressed nasal tip (HP:0000437)1.59367512
178Bronchomalacia (HP:0002780)1.59111779
179Aplasia/Hypoplasia of the sacrum (HP:0008517)1.57695069
180* Restlessness (HP:0000711)1.57452078
181Absent eyebrow (HP:0002223)1.55233454

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.93116407
2PBK4.25505441
3EPHB14.07149405
4TNIK3.92403813
5STK393.64513032
6MKNK23.31618719
7PKN12.89513962
8MKNK12.51730520
9FRK2.50823666
10OXSR12.49276024
11MET2.42933808
12MAPKAPK52.39548948
13ZAK2.30453270
14TAF12.29480253
15WNK32.23364686
16CDK192.23203991
17IRAK42.15268457
18BLK2.13829758
19IRAK22.00232408
20FGR1.99688893
21CDC71.99238810
22TTK1.95096938
23TGFBR21.92959435
24NUAK11.89618242
25TGFBR11.84325786
26IRAK31.81778784
27BMPR1B1.81304517
28TBK11.76038948
29EPHA21.75557491
30KIT1.68645938
31BMX1.68591272
32TYK21.64497663
33STK38L1.62707952
34CSF1R1.58239552
35MAPK151.57176291
36GRK71.51656516
37VRK21.47539239
38PLK31.45838201
39ABL21.43680621
40MAP3K91.41591228
41TESK21.36588979
42ERBB41.36258848
43DYRK31.31737988
44CAMK1D1.30162990
45MST1R1.25953609
46ERN11.23051745
47NLK1.20263714
48LIMK11.17852297
49GSK3A1.17510736
50DAPK21.16069490
51PRPF4B1.14893358
52BCR1.14537162
53CLK11.14491792
54ALK1.13015078
55IKBKB1.12858734
56IRAK11.09395673
57STK31.09223426
58TIE11.09072988
59NME21.08015940
60NEK61.07790680
61CSNK1G31.04052061
62FES1.01675725
63PDPK11.01370177
64MAP2K20.98515212
65DYRK20.98283376
66CSK0.97945430
67TEC0.96547157
68TAOK30.96164815
69NTRK10.93854371
70TAOK20.92481167
71MAPK120.91446653
72ADRBK20.90515851
73TRPM70.89422595
74CAMK1G0.87690725
75CSNK1A1L0.87445062
76PIM10.86460706
77PDK20.86010322
78HCK0.84708029
79FLT30.84490717
80BUB10.82874177
81PRKCG0.82686683
82CSNK1G10.80968470
83IKBKE0.80217786
84SGK2230.79422562
85SGK4940.79422562
86STK40.78513133
87PLK10.78442520
88FGFR20.77824981
89STK240.77459329
90PNCK0.77248962
91MOS0.76937044
92ROCK20.76665336
93CAMK2B0.74779975
94CAMK2D0.73558654
95PIM20.72260893
96BMPR20.70748660
97FGFR10.69696965
98BRSK20.69446100
99DYRK1A0.68788011
100CAMK2G0.68636034
101PRKD10.67775454
102TYRO30.65688833
103INSRR0.65006895
104RPS6KA50.64590865
105EGFR0.63239958
106CSNK1G20.62834386
107PLK40.62695340
108TRIM280.61711020
109CASK0.59519972
110PAK10.59439735
111FGFR40.57316320
112MAPK70.57021237
113STK100.56867931
114VRK10.55741799
115MAP3K110.54996238
116WNK10.54970814
117EEF2K0.54764060
118LCK0.54613960
119LYN0.53690778
120ARAF0.53485861
121MAP3K140.53256315
122PRKCD0.52959432
123BCKDK0.52918417
124JAK20.51028631
125MAPKAPK20.49905688
126PRKCE0.49309139
127MST40.49210634
128ABL10.49181404
129RIPK40.48049187
130LATS10.47851030
131RPS6KA10.46997094
132EIF2AK10.46758716
133ITK0.46652554
134GRK10.45205268
135FYN0.44750425
136JAK10.44658446
137SRPK10.44526360
138CHEK20.44043392
139RPS6KA60.42695819
140SGK20.42650606
141TSSK60.41773207
142STK110.41764019
143MAP3K30.41112049
144DAPK10.39921108
145IGF1R0.38043335
146PIK3CG0.37249057
147PRKCQ0.36816790
148INSR0.36179291
149PRKG20.35764375
150MATK0.35711599
151CDC42BPA0.35678915
152ERBB20.35483311
153ATM0.34630877
154DAPK30.33957474
155STK160.32915566
156CSNK1A10.31954843
157RPS6KC10.28943554
158RPS6KL10.28943554
159MAP3K40.28362006
160RPS6KA20.27971298
161CAMK10.27320569
162ATR0.26342872
163TAOK10.26113195
164CSNK1D0.24783871
165CSNK2A10.23550291
166PRKDC0.23365761

Predicted pathways (KEGG)

RankGene SetZ-score
1Steroid biosynthesis_Homo sapiens_hsa001004.48606211
2Staphylococcus aureus infection_Homo sapiens_hsa051503.48891052
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.34981286
4Fatty acid elongation_Homo sapiens_hsa000623.13761389
5Vitamin B6 metabolism_Homo sapiens_hsa007502.97112606
6Lysosome_Homo sapiens_hsa041422.87950018
7Complement and coagulation cascades_Homo sapiens_hsa046102.56230625
8Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.48418934
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.42930775
10Nitrogen metabolism_Homo sapiens_hsa009102.37371080
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.27924421
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.26903373
13Glycosaminoglycan degradation_Homo sapiens_hsa005312.21042336
14Histidine metabolism_Homo sapiens_hsa003402.20126333
15Other glycan degradation_Homo sapiens_hsa005112.13797070
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.10606074
17RNA polymerase_Homo sapiens_hsa030201.97324332
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96688527
19Homologous recombination_Homo sapiens_hsa034401.84335770
20Ether lipid metabolism_Homo sapiens_hsa005651.80987161
21One carbon pool by folate_Homo sapiens_hsa006701.80040273
22Sphingolipid metabolism_Homo sapiens_hsa006001.74982014
23Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.74637988
24Basal transcription factors_Homo sapiens_hsa030221.74313149
25Asthma_Homo sapiens_hsa053101.71254204
26Mismatch repair_Homo sapiens_hsa034301.63109888
27Non-homologous end-joining_Homo sapiens_hsa034501.62236259
28Folate biosynthesis_Homo sapiens_hsa007901.58661581
29Phagosome_Homo sapiens_hsa041451.55473063
30Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.47269328
31Caffeine metabolism_Homo sapiens_hsa002321.43290782
32Malaria_Homo sapiens_hsa051441.38621370
33Peroxisome_Homo sapiens_hsa041461.37924948
34Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.37751266
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.32622019
36Arginine biosynthesis_Homo sapiens_hsa002201.32440492
37Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.31071487
38Rheumatoid arthritis_Homo sapiens_hsa053231.28566201
39Vitamin digestion and absorption_Homo sapiens_hsa049771.25162252
40Prion diseases_Homo sapiens_hsa050201.25130427
41Fatty acid metabolism_Homo sapiens_hsa012121.23531739
42Phototransduction_Homo sapiens_hsa047441.22682744
43Pentose and glucuronate interconversions_Homo sapiens_hsa000401.18599184
44Butanoate metabolism_Homo sapiens_hsa006501.17324421
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.15716927
46beta-Alanine metabolism_Homo sapiens_hsa004101.15422875
47Intestinal immune network for IgA production_Homo sapiens_hsa046721.14348191
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13730012
49PPAR signaling pathway_Homo sapiens_hsa033201.12901586
50Pertussis_Homo sapiens_hsa051331.12798712
51Sulfur metabolism_Homo sapiens_hsa009201.11519323
52Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.10904206
53Retinol metabolism_Homo sapiens_hsa008301.09797055
54Arginine and proline metabolism_Homo sapiens_hsa003301.07681046
55p53 signaling pathway_Homo sapiens_hsa041151.04264987
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04173993
57Linoleic acid metabolism_Homo sapiens_hsa005911.03523914
58Fatty acid degradation_Homo sapiens_hsa000711.03205314
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.00894579
60Collecting duct acid secretion_Homo sapiens_hsa049660.99156694
61Chemical carcinogenesis_Homo sapiens_hsa052040.98636824
62Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.98416527
63ABC transporters_Homo sapiens_hsa020100.96302636
64Steroid hormone biosynthesis_Homo sapiens_hsa001400.93818858
65Nicotine addiction_Homo sapiens_hsa050330.91201219
66Arachidonic acid metabolism_Homo sapiens_hsa005900.90127402
67alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.89994794
68Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.89073847
69Antigen processing and presentation_Homo sapiens_hsa046120.88034192
70RNA degradation_Homo sapiens_hsa030180.82224593
71Fanconi anemia pathway_Homo sapiens_hsa034600.82035834
72Glycerophospholipid metabolism_Homo sapiens_hsa005640.81975593
73Toll-like receptor signaling pathway_Homo sapiens_hsa046200.81138085
74Leishmaniasis_Homo sapiens_hsa051400.80775688
75Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.79040149
76Osteoclast differentiation_Homo sapiens_hsa043800.76865020
77Tryptophan metabolism_Homo sapiens_hsa003800.76860063
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.74524075
79DNA replication_Homo sapiens_hsa030300.73974222
80Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73212822
81Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.71662572
82Glutathione metabolism_Homo sapiens_hsa004800.71034935
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69748669
84Propanoate metabolism_Homo sapiens_hsa006400.68255224
85Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.68190681
86Taste transduction_Homo sapiens_hsa047420.68112481
87Proteasome_Homo sapiens_hsa030500.67507670
88Tyrosine metabolism_Homo sapiens_hsa003500.66594987
89Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66552459
90Tuberculosis_Homo sapiens_hsa051520.66408960
91Lysine degradation_Homo sapiens_hsa003100.65253006
92Graft-versus-host disease_Homo sapiens_hsa053320.63787013
93Mineral absorption_Homo sapiens_hsa049780.61740293
94RNA transport_Homo sapiens_hsa030130.61664064
95Phenylalanine metabolism_Homo sapiens_hsa003600.60918153
96Renal cell carcinoma_Homo sapiens_hsa052110.59928576
97Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55866891
98Allograft rejection_Homo sapiens_hsa053300.55717720
99Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.54398868
100Galactose metabolism_Homo sapiens_hsa000520.54234359
101Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53241283
102Tight junction_Homo sapiens_hsa045300.51228628
103Drug metabolism - other enzymes_Homo sapiens_hsa009830.50705124
104Sulfur relay system_Homo sapiens_hsa041220.49693682
105Fat digestion and absorption_Homo sapiens_hsa049750.49639933
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48544326
107Bile secretion_Homo sapiens_hsa049760.48033979
108Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.47994510
109Endocytosis_Homo sapiens_hsa041440.46998325
110Salmonella infection_Homo sapiens_hsa051320.45948646
111Regulation of autophagy_Homo sapiens_hsa041400.45684474
112Purine metabolism_Homo sapiens_hsa002300.45526039
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.45282342
114Type I diabetes mellitus_Homo sapiens_hsa049400.43572438
115Metabolic pathways_Homo sapiens_hsa011000.42491136
116Sphingolipid signaling pathway_Homo sapiens_hsa040710.40955320
117Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.39588136
118Serotonergic synapse_Homo sapiens_hsa047260.39319575
119Glycerolipid metabolism_Homo sapiens_hsa005610.39149723
1202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37865966
121Pentose phosphate pathway_Homo sapiens_hsa000300.37080520
122Bladder cancer_Homo sapiens_hsa052190.35140579
123Fatty acid biosynthesis_Homo sapiens_hsa000610.34502072
124Legionellosis_Homo sapiens_hsa051340.33538137
125Biosynthesis of amino acids_Homo sapiens_hsa012300.33260076
126Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.32477521
127Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31929304
128Base excision repair_Homo sapiens_hsa034100.31788359
129Apoptosis_Homo sapiens_hsa042100.31142858
130NF-kappa B signaling pathway_Homo sapiens_hsa040640.30896265
131MicroRNAs in cancer_Homo sapiens_hsa052060.30168231
132Selenocompound metabolism_Homo sapiens_hsa004500.29674912
133NOD-like receptor signaling pathway_Homo sapiens_hsa046210.29347382
134SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29295073
135Hematopoietic cell lineage_Homo sapiens_hsa046400.28733987
136Ovarian steroidogenesis_Homo sapiens_hsa049130.27739177
137Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.27610373
138Long-term depression_Homo sapiens_hsa047300.27509112
139Pyruvate metabolism_Homo sapiens_hsa006200.27334782
140Vibrio cholerae infection_Homo sapiens_hsa051100.26378140
141Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.26056044
142Starch and sucrose metabolism_Homo sapiens_hsa005000.25883795
143Hepatitis C_Homo sapiens_hsa051600.25340567
144mRNA surveillance pathway_Homo sapiens_hsa030150.25215435
145Amoebiasis_Homo sapiens_hsa051460.24687814
146Autoimmune thyroid disease_Homo sapiens_hsa053200.24677117
147Cysteine and methionine metabolism_Homo sapiens_hsa002700.23229847
148Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.20574710
149Systemic lupus erythematosus_Homo sapiens_hsa053220.19718545
150African trypanosomiasis_Homo sapiens_hsa051430.19479190

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