NPC1

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 large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)5.57901407
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.57901407
3L-phenylalanine metabolic process (GO:0006558)5.06734341
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.06734341
5oligosaccharide catabolic process (GO:0009313)4.64263010
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.62862360
7alpha-linolenic acid metabolic process (GO:0036109)4.56869764
8central nervous system myelination (GO:0022010)4.52363498
9axon ensheathment in central nervous system (GO:0032291)4.52363498
10cell adhesion mediated by integrin (GO:0033627)4.41322519
11aromatic amino acid family catabolic process (GO:0009074)4.40642479
12glycosphingolipid catabolic process (GO:0046479)4.38353649
13fatty acid elongation (GO:0030497)4.34880522
14protein localization to endosome (GO:0036010)4.16459072
15peptidyl-glutamic acid carboxylation (GO:0017187)4.16118307
16protein carboxylation (GO:0018214)4.16118307
17bile acid biosynthetic process (GO:0006699)4.00153373
18plasma lipoprotein particle clearance (GO:0034381)3.99334969
19glycolipid catabolic process (GO:0019377)3.89521216
20high-density lipoprotein particle remodeling (GO:0034375)3.84028032
21fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.61376702
22reverse cholesterol transport (GO:0043691)3.59929194
23complement activation, alternative pathway (GO:0006957)3.58622669
24urea cycle (GO:0000050)3.58266233
25urea metabolic process (GO:0019627)3.58266233
26regulation of cholesterol esterification (GO:0010872)3.56125672
27positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.55735161
28regulation of triglyceride catabolic process (GO:0010896)3.53576486
29negative regulation of fibrinolysis (GO:0051918)3.52280658
30glyoxylate metabolic process (GO:0046487)3.51879936
31cellular response to thyroid hormone stimulus (GO:0097067)3.51344582
32regulation of protein activation cascade (GO:2000257)3.49043268
33tyrosine metabolic process (GO:0006570)3.46859788
34regulation of cholesterol storage (GO:0010885)3.46843016
35kynurenine metabolic process (GO:0070189)3.46113114
36very long-chain fatty acid metabolic process (GO:0000038)3.45566982
37tryptophan catabolic process (GO:0006569)3.45008585
38indole-containing compound catabolic process (GO:0042436)3.45008585
39indolalkylamine catabolic process (GO:0046218)3.45008585
40protein-lipid complex remodeling (GO:0034368)3.43166985
41macromolecular complex remodeling (GO:0034367)3.43166985
42plasma lipoprotein particle remodeling (GO:0034369)3.43166985
43* cholesterol efflux (GO:0033344)3.42881862
44ceramide catabolic process (GO:0046514)3.42121425
45hemidesmosome assembly (GO:0031581)3.41618787
46phospholipid efflux (GO:0033700)3.41237477
47skin morphogenesis (GO:0043589)3.41106422
48apoptotic cell clearance (GO:0043277)3.39425664
49cysteine metabolic process (GO:0006534)3.36144178
50phospholipid homeostasis (GO:0055091)3.36032823
51regulation of fibrinolysis (GO:0051917)3.34722888
52tryptophan metabolic process (GO:0006568)3.33265240
53nitrogen cycle metabolic process (GO:0071941)3.31657496
54* bile acid metabolic process (GO:0008206)3.31300300
55cellular response to arsenic-containing substance (GO:0071243)3.29350751
56positive regulation of extracellular matrix organization (GO:1903055)3.29234718
57iron ion import (GO:0097286)3.29045134
58regulation of complement activation (GO:0030449)3.27544874
59protein-lipid complex assembly (GO:0065005)3.24782140
60very-low-density lipoprotein particle assembly (GO:0034379)3.24772655
61regulation of membrane protein ectodomain proteolysis (GO:0051043)3.22451728
62hyaluronan catabolic process (GO:0030214)3.21657123
63plasma lipoprotein particle assembly (GO:0034377)3.21223971
64regulation of early endosome to late endosome transport (GO:2000641)3.20307908
65negative regulation of lipase activity (GO:0060192)3.20040571
66low-density lipoprotein particle remodeling (GO:0034374)3.13975952
67regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.12069159
68heme transport (GO:0015886)3.12008204
69coenzyme catabolic process (GO:0009109)3.10255699
70cofactor catabolic process (GO:0051187)3.10135122
71pinocytosis (GO:0006907)3.08211434
72sulfur amino acid catabolic process (GO:0000098)3.07989828
73aromatic amino acid family metabolic process (GO:0009072)3.07193436
74regulation of vitamin D biosynthetic process (GO:0060556)3.06911582
75response to thyroid hormone (GO:0097066)3.05353474
76response to methylmercury (GO:0051597)3.03726431
77fibrinolysis (GO:0042730)3.03216744
78acylglycerol homeostasis (GO:0055090)3.02802650
79triglyceride homeostasis (GO:0070328)3.02802650
80fatty-acyl-CoA biosynthetic process (GO:0046949)3.02674151
81regulation of female gonad development (GO:2000194)3.01201747
82regulation of cholesterol biosynthetic process (GO:0045540)2.99827010
83long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.98267797
84osteoclast differentiation (GO:0030316)2.98024812
85mannose metabolic process (GO:0006013)2.97291266
86negative regulation of sterol transport (GO:0032372)2.96137584
87negative regulation of cholesterol transport (GO:0032375)2.96137584
88protein-lipid complex subunit organization (GO:0071825)2.94359145
89amino-acid betaine metabolic process (GO:0006577)2.92657166
90regulation of cholesterol metabolic process (GO:0090181)2.92372825
91glutamate metabolic process (GO:0006536)2.90574658
92* cholesterol homeostasis (GO:0042632)2.90507691
93plasma lipoprotein particle organization (GO:0071827)2.90297879
94positive regulation of triglyceride lipase activity (GO:0061365)2.85729289
95positive regulation of lipoprotein lipase activity (GO:0051006)2.85729289
96* sterol homeostasis (GO:0055092)2.84779571
97ethanol oxidation (GO:0006069)2.84431817
98positive regulation of lipid catabolic process (GO:0050996)2.82048430
99sphingosine metabolic process (GO:0006670)2.81804261
100dicarboxylic acid biosynthetic process (GO:0043650)2.81329638
101alpha-amino acid catabolic process (GO:1901606)2.80946447
102adhesion of symbiont to host (GO:0044406)2.78518476
103regulation of macrophage chemotaxis (GO:0010758)2.77167705
104regulation of lipoprotein metabolic process (GO:0050746)2.77084901
105positive regulation by symbiont of host defense response (GO:0052509)2.76761533
106modulation by symbiont of host defense response (GO:0052031)2.76761533
107modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.76761533
108modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.76761533
109positive regulation by organism of defense response of other organism involved in symbiotic interact2.76761533
110modulation by symbiont of host immune response (GO:0052553)2.76761533
111lipoprotein metabolic process (GO:0042157)2.76544128
112positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.75895351
113lipopolysaccharide-mediated signaling pathway (GO:0031663)2.75690657
114cellular glucuronidation (GO:0052695)2.75023148
115low-density lipoprotein particle clearance (GO:0034383)2.74712663
116endodermal cell differentiation (GO:0035987)2.74652565
117positive regulation of steroid biosynthetic process (GO:0010893)2.74049064
118opsonization (GO:0008228)2.74006111
119homocysteine metabolic process (GO:0050667)2.73295942
120ensheathment of neurons (GO:0007272)2.72882709
121axon ensheathment (GO:0008366)2.72882709
122linoleic acid metabolic process (GO:0043651)2.72491246
123amyloid precursor protein catabolic process (GO:0042987)2.72252639
124myelination (GO:0042552)2.70985858
125cholesterol biosynthetic process (GO:0006695)2.70974485
126cell-substrate junction assembly (GO:0007044)2.70252268
127decidualization (GO:0046697)2.69913853
128bile acid and bile salt transport (GO:0015721)2.69531685
129import into cell (GO:0098657)2.69028206
130regulation of cholesterol homeostasis (GO:2000188)2.68239248
131regulation of mononuclear cell migration (GO:0071675)2.67769625
132regulation of bile acid biosynthetic process (GO:0070857)2.67640628
133barbed-end actin filament capping (GO:0051016)2.67531392
134cellular modified amino acid catabolic process (GO:0042219)2.67511352
135short-chain fatty acid metabolic process (GO:0046459)2.66455186
136membrane lipid catabolic process (GO:0046466)2.65807644
137keratan sulfate catabolic process (GO:0042340)2.64070575
138sphingolipid catabolic process (GO:0030149)2.61030462
139response to laminar fluid shear stress (GO:0034616)2.60959425
140hypotonic response (GO:0006971)2.60308247
141macroautophagy (GO:0016236)2.58976278
142response to magnesium ion (GO:0032026)2.58575995
143amino sugar catabolic process (GO:0046348)2.54409667
144substrate-dependent cell migration (GO:0006929)2.51451824
145membrane protein ectodomain proteolysis (GO:0006509)2.48713576
146negative regulation of lipid storage (GO:0010888)2.45624793
147COPI coating of Golgi vesicle (GO:0048205)2.45536877
148Golgi transport vesicle coating (GO:0048200)2.45536877
149positive regulation of p38MAPK cascade (GO:1900745)2.42793576
150protein hydroxylation (GO:0018126)2.42486850
151cortical actin cytoskeleton organization (GO:0030866)2.41647755
152positive regulation of hormone biosynthetic process (GO:0046886)2.41141015
153regulation of vitamin metabolic process (GO:0030656)2.40544102
154platelet-derived growth factor receptor signaling pathway (GO:0048008)2.38809163
155protein kinase C signaling (GO:0070528)2.36982295
156regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.36606734
157cellular response to ethanol (GO:0071361)2.36174925
158regulation of apoptotic cell clearance (GO:2000425)2.35241038
159mesodermal cell differentiation (GO:0048333)2.34899126
160basement membrane organization (GO:0071711)2.33939440
161positive regulation of chemokine biosynthetic process (GO:0045080)2.32477458
162dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.31409512
163sphingoid metabolic process (GO:0046519)2.30310480
164detection of molecule of bacterial origin (GO:0032490)2.28673451
165cellular copper ion homeostasis (GO:0006878)2.28158344
166epithelial cell-cell adhesion (GO:0090136)2.27353663
167negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.26873589
168response to peptidoglycan (GO:0032494)2.25862207
169surfactant homeostasis (GO:0043129)2.25294884
170cytoskeletal anchoring at plasma membrane (GO:0007016)2.25094682
171peptide catabolic process (GO:0043171)2.24582734
172diol metabolic process (GO:0034311)2.24508222
173hyaluronan metabolic process (GO:0030212)2.24492842
174regulation of extracellular matrix organization (GO:1903053)2.23660930
175negative regulation of nitric oxide biosynthetic process (GO:0045019)2.23594020
176regulation of steroid hormone biosynthetic process (GO:0090030)2.23578772
177positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.23371497
178retina vasculature morphogenesis in camera-type eye (GO:0061299)2.21739572
179negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.21252881
180negative regulation of protein localization to plasma membrane (GO:1903077)2.20477878
181positive regulation of steroid metabolic process (GO:0045940)2.19868085
182mammary gland epithelial cell proliferation (GO:0033598)2.19712712
183embryo implantation (GO:0007566)2.18916263
184cortical cytoskeleton organization (GO:0030865)2.18798033
185myeloid dendritic cell differentiation (GO:0043011)2.18358933
186regulation of acrosome reaction (GO:0060046)2.15967694
187receptor catabolic process (GO:0032801)2.15876251
188positive regulation of leukocyte degranulation (GO:0043302)2.15034682
189virion attachment to host cell (GO:0019062)2.14512144
190adhesion of symbiont to host cell (GO:0044650)2.14512144

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.21586337
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.20685972
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.62717027
4* LXR_22158963_ChIP-Seq_LIVER_Mouse4.08469821
5PPARA_22158963_ChIP-Seq_LIVER_Mouse3.83450721
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.59018686
7EGR1_23403033_ChIP-Seq_LIVER_Mouse3.52745047
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.21346215
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.62012084
10* NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.61865349
11MYB_21317192_ChIP-Seq_ERMYB_Mouse2.38648189
12* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.28192468
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.15493016
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.13645264
15CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.07381347
16* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.06318407
17* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.06318407
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.05107985
19BP1_19119308_ChIP-ChIP_Hs578T_Human1.97689032
20SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.95084958
21VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.87085705
22BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.78656256
23JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.76921662
24TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.76839817
25STAT6_21828071_ChIP-Seq_BEAS2B_Human1.73537143
26SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.73159570
27IRF8_21731497_ChIP-ChIP_J774_Mouse1.72711829
28IRF8_27001747_Chip-Seq_BMDM_Mouse1.68736249
29CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.66856669
30* FOXA2_19822575_ChIP-Seq_HepG2_Human1.66499642
31SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66489301
32CDX2_19796622_ChIP-Seq_MESCs_Mouse1.65483492
33HIF1A_21447827_ChIP-Seq_MCF-7_Human1.59682440
34PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.54215890
35RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.53751840
36STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.53622418
37ELK3_25401928_ChIP-Seq_HUVEC_Human1.51458287
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.51047640
39IRF8_22096565_ChIP-ChIP_GC-B_Human1.51037033
40ESR2_21235772_ChIP-Seq_MCF-7_Human1.48805587
41STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.48198361
42NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.46013802
43NRF2_20460467_ChIP-Seq_MEFs_Mouse1.46013802
44BRD4_25478319_ChIP-Seq_HGPS_Human1.45356110
45UBF1/2_26484160_Chip-Seq_HMECs_Human1.44995666
46BRD4_27068464_Chip-Seq_AML-cells_Mouse1.44880886
47KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.41566504
48KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.38148513
49CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.34878321
50P300_27058665_Chip-Seq_ZR-75-30cells_Human1.30638162
51FOXO3_23340844_ChIP-Seq_DLD1_Human1.30537080
52NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.30530986
53* ATF3_27146783_Chip-Seq_COLON_Human1.28938220
54TFEB_21752829_ChIP-Seq_HELA_Human1.28081596
55BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.25651025
56TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.25345731
57ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.22902706
58* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22551393
59ZNF263_19887448_ChIP-Seq_K562_Human1.22461124
60SPI1_23127762_ChIP-Seq_K562_Human1.22120379
61FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.21754824
62SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21529717
63GATA2_21666600_ChIP-Seq_HMVEC_Human1.20717580
64CTNNB1_20460455_ChIP-Seq_HCT116_Human1.20539314
65STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18299386
66AR_21572438_ChIP-Seq_LNCaP_Human1.18244777
67* KDM2B_26808549_Chip-Seq_K562_Human1.17437963
68MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.17348089
69STAT4_19710469_ChIP-ChIP_TH1__Mouse1.16814099
70ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16565009
71PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08532620
72TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.08189527
73VDR_24787735_ChIP-Seq_THP-1_Human1.07867168
74SALL4_18804426_ChIP-ChIP_XEN_Mouse1.07536663
75* MITF_21258399_ChIP-Seq_MELANOMA_Human1.06770416
76ESR1_20079471_ChIP-ChIP_T-47D_Human1.06247617
77ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.05185806
78TP53_22127205_ChIP-Seq_IMR90_Human1.04320258
79ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.03406339
80PU_27001747_Chip-Seq_BMDM_Mouse1.02389965
81RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.02275688
82FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.01710540
83SOX2_27498859_Chip-Seq_STOMACH_Mouse1.01469361
84TCF7_22412390_ChIP-Seq_EML_Mouse0.99995326
85TRIM28_21343339_ChIP-Seq_HEK293_Human0.98791152
86FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98749280
87HTT_18923047_ChIP-ChIP_STHdh_Human0.98614147
88CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.98492591
89GATA1_19941826_ChIP-Seq_K562_Human0.98270108
90EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.98131173
91RUNX_20019798_ChIP-Seq_JUKART_Human0.97761996
92AHR_22903824_ChIP-Seq_MCF-7_Human0.97710081
93TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97611143
94NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.97239359
95VDR_24763502_ChIP-Seq_THP-1_Human0.96858381
96GATA1_19941827_ChIP-Seq_MEL_Mouse0.96575034
97SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96004612
98STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.95965326
99GBX2_23144817_ChIP-Seq_PC3_Human0.95578000
100* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.95044770
101IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.94568562
102CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.93669427
103ESR1_21235772_ChIP-Seq_MCF-7_Human0.93431080
104PIAS1_25552417_ChIP-Seq_VCAP_Human0.93241173
105* RACK7_27058665_Chip-Seq_MCF-7_Human0.93181755
106SOX9_24532713_ChIP-Seq_HFSC_Mouse0.92195305
107AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.91185354
108CJUN_26792858_Chip-Seq_BT549_Human0.90424077
109PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88345783
110NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.87949542
111TP53_16413492_ChIP-PET_HCT116_Human0.86668618
112* CLOCK_20551151_ChIP-Seq_293T_Human0.86562782
113GATA1_22025678_ChIP-Seq_K562_Human0.86338957
114EP300_21415370_ChIP-Seq_HL-1_Mouse0.86022305
115ARNT_22903824_ChIP-Seq_MCF-7_Human0.85186936
116* HNF4A_19822575_ChIP-Seq_HepG2_Human0.84602984
117TP63_23658742_ChIP-Seq_EP156T_Human0.83949056
118TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83686499
119SOX2_20726797_ChIP-Seq_SW620_Human0.83582355
120GATA2_19941826_ChIP-Seq_K562_Human0.82564911
121PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.81365256
122TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.79238746
123RXR_22108803_ChIP-Seq_LS180_Human0.78704850
124FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.78051859
125ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.77716315
126EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.77462191
127ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76624902
128WT1_25993318_ChIP-Seq_PODOCYTE_Human0.76445079
129MTF2_20144788_ChIP-Seq_MESCs_Mouse0.74535756
130PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.74390044
131TBX20_22080862_ChIP-Seq_HEART_Mouse0.74095413
132TBX20_22328084_ChIP-Seq_HEART_Mouse0.74095413
133FOXA1_25552417_ChIP-Seq_VCAP_Human0.73540589
134DROSHA_22980978_ChIP-Seq_HELA_Human0.73123877
135PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.71927292
136NFIB_24661679_ChIP-Seq_LUNG_Mouse0.71511895
137CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.70040463
138* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.69757856
139SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.69583344
140GATA4_25053715_ChIP-Seq_YYC3_Human0.68317071
141SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.67720790
142GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.67423165
143OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.67109960
144JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.64707606
145TAF15_26573619_Chip-Seq_HEK293_Human0.64308675

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.68307050
2MP0005360_urolithiasis5.03476325
3MP0005085_abnormal_gallbladder_physiolo4.24179824
4MP0005365_abnormal_bile_salt4.07389612
5MP0008875_abnormal_xenobiotic_pharmacok3.85232605
6MP0005058_abnormal_lysosome_morphology3.44223604
7* MP0009840_abnormal_foam_cell3.30488885
8MP0003191_abnormal_cellular_cholesterol2.94428477
9* MP0003690_abnormal_glial_cell2.92312434
10MP0003806_abnormal_nucleotide_metabolis2.89103305
11MP0002877_abnormal_melanocyte_morpholog2.84997576
12* MP0000920_abnormal_myelination2.84484933
13MP0003252_abnormal_bile_duct2.82471341
14MP0010329_abnormal_lipoprotein_level2.74416451
15MP0005083_abnormal_biliary_tract2.66180596
16MP0003566_abnormal_cell_adhesion2.46188776
17MP0003195_calcinosis2.42111642
18MP0000604_amyloidosis2.36334269
19MP0006054_spinal_hemorrhage2.25504908
20MP0003091_abnormal_cell_migration2.23875585
21MP0005023_abnormal_wound_healing2.12600873
22MP0006082_CNS_inflammation2.01460931
23* MP0002118_abnormal_lipid_homeostasis1.98965618
24MP0005332_abnormal_amino_acid1.96212796
25MP0003172_abnormal_lysosome_physiology1.93775111
26MP0005451_abnormal_body_composition1.91572584
27MP0005076_abnormal_cell_differentiation1.86684644
28MP0004233_abnormal_muscle_weight1.86073174
29MP0001666_abnormal_nutrient_absorption1.76533270
30MP0004272_abnormal_basement_membrane1.74541881
31MP0003329_amyloid_beta_deposits1.72008121
32MP0010234_abnormal_vibrissa_follicle1.70562273
33MP0003011_delayed_dark_adaptation1.64941941
34MP0002254_reproductive_system_inflammat1.63471543
35* MP0000609_abnormal_liver_physiology1.61942866
36MP0000371_diluted_coat_color1.56684530
37MP0000343_altered_response_to1.52255138
38MP0010352_gastrointestinal_tract_polyps1.51962882
39MP0005584_abnormal_enzyme/coenzyme_acti1.41959586
40MP0003075_altered_response_to1.38786738
41MP0003656_abnormal_erythrocyte_physiolo1.36122567
42MP0004381_abnormal_hair_follicle1.35621564
43MP0004019_abnormal_vitamin_homeostasis1.31147505
44MP0000858_altered_metastatic_potential1.30168902
45MP0001915_intracranial_hemorrhage1.29555832
46MP0003448_altered_tumor_morphology1.28143382
47MP0002148_abnormal_hypersensitivity_rea1.27990553
48* MP0003634_abnormal_glial_cell1.27186768
49MP0002090_abnormal_vision1.26952986
50MP0002089_abnormal_postnatal_growth/wei1.22831471
51MP0002896_abnormal_bone_mineralization1.22411096
52MP0010368_abnormal_lymphatic_system1.19548497
53* MP0002419_abnormal_innate_immunity1.13370956
54MP0004130_abnormal_muscle_cell1.13005744
55MP0005319_abnormal_enzyme/_coenzyme1.11403191
56MP0003183_abnormal_peptide_metabolism1.10970666
57MP0005408_hypopigmentation1.09957520
58MP0003941_abnormal_skin_development1.09936946
59MP0010678_abnormal_skin_adnexa1.09383627
60MP0001849_ear_inflammation1.07359393
61MP0009785_altered_susceptibility_to1.07252404
62MP0003300_gastrointestinal_ulcer1.07153143
63MP0005409_darkened_coat_color1.06607160
64MP0003303_peritoneal_inflammation1.06589909
65MP0009764_decreased_sensitivity_to1.06188368
66MP0000383_abnormal_hair_follicle1.03846932
67MP0005310_abnormal_salivary_gland1.03021441
68MP0005464_abnormal_platelet_physiology1.02361201
69MP0009763_increased_sensitivity_to1.01352672
70MP0008438_abnormal_cutaneous_collagen1.00403638
71MP0004185_abnormal_adipocyte_glucose0.97365694
72MP0001851_eye_inflammation0.95982091
73MP0003632_abnormal_nervous_system0.95913184
74MP0004782_abnormal_surfactant_physiolog0.94297107
75MP0005197_abnormal_uvea_morphology0.94292978
76MP0001216_abnormal_epidermal_layer0.93875913
77MP0003436_decreased_susceptibility_to0.93794746
78MP0003868_abnormal_feces_composition0.93547557
79MP0008469_abnormal_protein_level0.93370762
80MP0000579_abnormal_nail_morphology0.92836514
81MP0000733_abnormal_muscle_development0.92656933
82MP0002138_abnormal_hepatobiliary_system0.92175941
83MP0003633_abnormal_nervous_system0.90139657
84MP0004885_abnormal_endolymph0.89666918
85MP0005621_abnormal_cell_physiology0.89626446
86MP0000015_abnormal_ear_pigmentation0.89378647
87MP0005670_abnormal_white_adipose0.88724884
88MP0003453_abnormal_keratinocyte_physiol0.87285030
89MP0002060_abnormal_skin_morphology0.86673664
90MP0002971_abnormal_brown_adipose0.86346908
91MP0000647_abnormal_sebaceous_gland0.85757661
92MP0005000_abnormal_immune_tolerance0.85560360
93MP0002295_abnormal_pulmonary_circulatio0.85254750
94MP0005166_decreased_susceptibility_to0.84228935
95MP0005167_abnormal_blood-brain_barrier0.83790268
96MP0009384_cardiac_valve_regurgitation0.81717525
97MP0003828_pulmonary_edema0.81047317
98MP0003724_increased_susceptibility_to0.78756249
99MP0003705_abnormal_hypodermis_morpholog0.78524024
100MP0003879_abnormal_hair_cell0.77558284
101MP0010307_abnormal_tumor_latency0.77537899
102MP0003795_abnormal_bone_structure0.77434129
103MP0009643_abnormal_urine_homeostasis0.77366800
104MP0008260_abnormal_autophagy0.77269592
105MP0002332_abnormal_exercise_endurance0.77123494
106MP0001533_abnormal_skeleton_physiology0.76224970
107MP0003631_nervous_system_phenotype0.76211009
108MP0000685_abnormal_immune_system0.76199369
109MP0003186_abnormal_redox_activity0.74914053
110MP0005257_abnormal_intraocular_pressure0.74537697
111MP0003045_fibrosis0.74348358
112MP0004858_abnormal_nervous_system0.73701576
113MP0005595_abnormal_vascular_smooth0.73638953
114MP0001853_heart_inflammation0.73186201
115* MP0002229_neurodegeneration0.72863409
116MP0009697_abnormal_copulation0.72724017
117* MP0002452_abnormal_antigen_presenting0.71712993
118* MP0000598_abnormal_liver_morphology0.71330359
119MP0009765_abnormal_xenobiotic_induced0.70799993
120* MP0003950_abnormal_plasma_membrane0.70377713
121MP0009333_abnormal_splenocyte_physiolog0.70376243
122MP0005171_absent_coat_pigmentation0.70073690
123MP0005164_abnormal_response_to0.70070199
124MP0002998_abnormal_bone_remodeling0.69715106
125MP0002075_abnormal_coat/hair_pigmentati0.69713986
126MP0000639_abnormal_adrenal_gland0.69067544
127MP0005666_abnormal_adipose_tissue0.68801006
128MP0001764_abnormal_homeostasis0.68620687
129MP0002405_respiratory_system_inflammati0.68028684
130MP0000767_abnormal_smooth_muscle0.67697131
131MP0001958_emphysema0.67513622
132MP0003718_maternal_effect0.66867719
133MP0001661_extended_life_span0.66705016
134MP0005395_other_phenotype0.65265423
135MP0004510_myositis0.65132445
136MP0003279_aneurysm0.64899787
137MP0005390_skeleton_phenotype0.64638638
138MP0005387_immune_system_phenotype0.64447074
139MP0001790_abnormal_immune_system0.64447074
140MP0004947_skin_inflammation0.63553492
141MP0000747_muscle_weakness0.62777126
142MP0005025_abnormal_response_to0.60038968
143MP0001324_abnormal_eye_pigmentation0.57999605
144MP0000569_abnormal_digit_pigmentation0.57887506
145MP0009642_abnormal_blood_homeostasis0.57851532
146MP0000465_gastrointestinal_hemorrhage0.56863009
147* MP0005334_abnormal_fat_pad0.55063784
148MP0001177_atelectasis0.54838995
149MP0002933_joint_inflammation0.54764845
150MP0003136_yellow_coat_color0.53042161
151MP0000249_abnormal_blood_vessel0.52319053

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)5.59010748
2Intrahepatic cholestasis (HP:0001406)5.58544937
3Xanthomatosis (HP:0000991)5.33118464
4Hyperlipoproteinemia (HP:0010980)5.11089387
5Abnormality of aromatic amino acid family metabolism (HP:0004338)5.05982874
6Complement deficiency (HP:0004431)4.62823303
7Prolonged partial thromboplastin time (HP:0003645)4.21337727
8Abnormality of monocarboxylic acid metabolism (HP:0010996)4.11199045
9Axonal loss (HP:0003447)4.00893941
10Epidermoid cyst (HP:0200040)3.87988842
11Systemic lupus erythematosus (HP:0002725)3.80845245
12Joint hemorrhage (HP:0005261)3.79781856
13Hypobetalipoproteinemia (HP:0003563)3.62148221
14Hypoalphalipoproteinemia (HP:0003233)3.56139487
15Vertebral compression fractures (HP:0002953)3.53062784
16Increased cerebral lipofuscin (HP:0011813)3.52424275
17Myocardial infarction (HP:0001658)3.49103297
18Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.47565727
19Hypercholesterolemia (HP:0003124)3.39746535
20Hypolipoproteinemia (HP:0010981)3.35018194
21Abnormality of complement system (HP:0005339)3.30551574
22* Neurofibrillary tangles (HP:0002185)3.28915641
23Fat malabsorption (HP:0002630)3.12486791
24Abnormality of methionine metabolism (HP:0010901)3.07565774
25Increased neuronal autofluorescent lipopigment (HP:0002074)3.07181107
26Apathy (HP:0000741)3.07066864
27Glomerulonephritis (HP:0000099)3.04948966
28Abnormality of the common coagulation pathway (HP:0010990)3.01144761
29Recurrent gram-negative bacterial infections (HP:0005420)2.99189834
30Amyloidosis (HP:0011034)2.96988483
31Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.90885355
32Diminished motivation (HP:0000745)2.87409022
33Vacuolated lymphocytes (HP:0001922)2.86738621
34Hyperammonemia (HP:0001987)2.82019751
35Peripheral demyelination (HP:0011096)2.78983755
36Abnormality of sulfur amino acid metabolism (HP:0004339)2.77842216
37Nuclear cataract (HP:0100018)2.77777974
38Abnormality of aspartate family amino acid metabolism (HP:0010899)2.71364887
39Cervical subluxation (HP:0003308)2.70329327
40Steatorrhea (HP:0002570)2.66787022
41Abnormality of glutamine family amino acid metabolism (HP:0010902)2.64202960
42Vascular calcification (HP:0004934)2.62975126
43* Loss of speech (HP:0002371)2.60417595
44Skin nodule (HP:0200036)2.60377919
45Abnormality of liposaccharide metabolism (HP:0010968)2.57296706
46Abnormality of glycosphingolipid metabolism (HP:0004343)2.57296706
47Abnormality of glycolipid metabolism (HP:0010969)2.57296706
48Dysostosis multiplex (HP:0000943)2.57197402
49Protrusio acetabuli (HP:0003179)2.57120083
50Degeneration of the lateral corticospinal tracts (HP:0002314)2.56994936
51Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.56994936
52Osteolytic defects of the phalanges of the hand (HP:0009771)2.56501542
53Osteolytic defects of the hand bones (HP:0009699)2.56501542
54Conjugated hyperbilirubinemia (HP:0002908)2.53434714
55Ketosis (HP:0001946)2.49287414
56Spondylolisthesis (HP:0003302)2.47415692
57Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.46822159
58Turricephaly (HP:0000262)2.46055750
59Abnormality of glycine metabolism (HP:0010895)2.44903981
60Abnormality of serine family amino acid metabolism (HP:0010894)2.44903981
61Gingival bleeding (HP:0000225)2.42822827
62Hepatosplenomegaly (HP:0001433)2.42716094
63Flat acetabular roof (HP:0003180)2.36307350
64Cardiovascular calcification (HP:0011915)2.34349051
65Metaphyseal irregularity (HP:0003025)2.30277321
66Disinhibition (HP:0000734)2.27551728
67Tetraparesis (HP:0002273)2.27011687
68Onion bulb formation (HP:0003383)2.26016888
69Paraparesis (HP:0002385)2.24595771
70Slow saccadic eye movements (HP:0000514)2.21695725
71Autoimmune thrombocytopenia (HP:0001973)2.20736106
72Retinal atrophy (HP:0001105)2.20713454
73Hyperglycinemia (HP:0002154)2.19550889
74Abnormality of fatty-acid metabolism (HP:0004359)2.18362577
75* Cerebral inclusion bodies (HP:0100314)2.17525245
76Subacute progressive viral hepatitis (HP:0006572)2.15763605
77Esophageal varix (HP:0002040)2.14600178
78Interstitial pulmonary disease (HP:0006530)2.14123391
79Mitral stenosis (HP:0001718)2.13211894
80Hypophosphatemic rickets (HP:0004912)2.10423584
81Ovoid vertebral bodies (HP:0003300)2.08305939
82Upper limb amyotrophy (HP:0009129)2.07361367
83Distal upper limb amyotrophy (HP:0007149)2.07361367
84Mucopolysacchariduria (HP:0008155)2.06956136
85Urinary glycosaminoglycan excretion (HP:0003541)2.06956136
86Spastic tetraparesis (HP:0001285)2.05648426
87Abnormality of mucopolysaccharide metabolism (HP:0011020)2.05540655
88Abnormality of polysaccharide metabolism (HP:0011012)2.05540655
89Abnormality of glycosaminoglycan metabolism (HP:0004371)2.05540655
90Protuberant abdomen (HP:0001538)2.05473637
91Recurrent bacterial skin infections (HP:0005406)2.04348938
92Parakeratosis (HP:0001036)2.03017781
93Clumsiness (HP:0002312)2.02446104
94Hypoglycemic coma (HP:0001325)2.01568900
95Bone pain (HP:0002653)2.01547492
96Abnormality of the corticospinal tract (HP:0002492)2.01057845
97Abnormal gallbladder morphology (HP:0012437)2.00595743
98Natal tooth (HP:0000695)2.00402903
99Abnormality of carpal bone ossification (HP:0006257)1.98467920
100Hyperglycinuria (HP:0003108)1.97916906
101Nephritis (HP:0000123)1.96859793
102* Abnormality of macrophages (HP:0004311)1.96465058
103Intention tremor (HP:0002080)1.95452405
104Abnormality of the intrinsic pathway (HP:0010989)1.95130303
105Premature rupture of membranes (HP:0001788)1.93623553
106Malnutrition (HP:0004395)1.90813464
107Abnormal gallbladder physiology (HP:0012438)1.90615010
108Cholecystitis (HP:0001082)1.90615010
109Sensorimotor neuropathy (HP:0007141)1.89928997
110Wormian bones (HP:0002645)1.89043855
111Cerebral aneurysm (HP:0004944)1.88932411
112Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.87781297
113Hepatocellular carcinoma (HP:0001402)1.86702285
114Abnormality of the vasculature of the conjunctiva (HP:0008054)1.86223230
115Flared iliac wings (HP:0002869)1.86138922
116Arterial tortuosity (HP:0005116)1.84239176
117Spastic paraparesis (HP:0002313)1.83520571
118Cholelithiasis (HP:0001081)1.83272003
119Delayed CNS myelination (HP:0002188)1.82139392
120Atrophic scars (HP:0001075)1.81005844
121Dysmetric saccades (HP:0000641)1.80992750
122Coarse hair (HP:0002208)1.79516093
123Abnormal ossification of hand bones (HP:0005921)1.79155603
124J-shaped sella turcica (HP:0002680)1.78165817
125Hemorrhage of the eye (HP:0011885)1.77668940
126Vascular tortuosity (HP:0004948)1.77050176
127Asymmetric septal hypertrophy (HP:0001670)1.76856730
128Milia (HP:0001056)1.76422411
129Upper motor neuron abnormality (HP:0002127)1.75564399
130Increased CSF protein (HP:0002922)1.74829842
131Recurrent skin infections (HP:0001581)1.74116832
132* Neuronal loss in central nervous system (HP:0002529)1.73739682
133Femoral bowing (HP:0002980)1.72240477
134Premature skin wrinkling (HP:0100678)1.72046079
135Ulnar bowing (HP:0003031)1.71074273
136Thin bony cortex (HP:0002753)1.70213754
137Hyporeflexia of lower limbs (HP:0002600)1.69042474
138Thick nail (HP:0001805)1.69012184
139Abnormality of the thoracic spine (HP:0100711)1.68623147
140Abnormality of proline metabolism (HP:0010907)1.68452350
141Hydroxyprolinuria (HP:0003080)1.68452350
142Pulmonary embolism (HP:0002204)1.67712039
143Sensory axonal neuropathy (HP:0003390)1.67215498
144Short nail (HP:0001799)1.66706068
145Recurrent abscess formation (HP:0002722)1.66187580
146Global brain atrophy (HP:0002283)1.66087060
147Heterotopia (HP:0002282)1.66001844
148Absent frontal sinuses (HP:0002688)1.65504647
149Abnormality of the acetabulum (HP:0003170)1.65235948
150Albinism (HP:0001022)1.63650394
151Segmental peripheral demyelination/remyelination (HP:0003481)1.63370450
152Hand muscle atrophy (HP:0009130)1.62486931
153Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.62049445
154Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.61941914
155Progressive neurologic deterioration (HP:0002344)1.61695002
156Tibial bowing (HP:0002982)1.59526449
157Elbow flexion contracture (HP:0002987)1.58840619
158Bilateral sensorineural hearing impairment (HP:0008619)1.58592799
159Cupped ribs (HP:0000887)1.58262906
160Ankle contracture (HP:0006466)1.57390403
161Mutism (HP:0002300)1.56497572
162Cardiomegaly (HP:0001640)1.54989900
163* Dementia (HP:0000726)1.54818293
164Hyperacusis (HP:0010780)1.53984228
165Ankyloglossia (HP:0010296)1.53957857
166Alopecia of scalp (HP:0002293)1.53106483

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHB13.99559024
2CDK123.26934009
3STK392.94856479
4FGFR22.59616300
5PBK2.35454920
6DDR22.31697870
7SIK12.31268740
8PDGFRA2.25608623
9PKN12.15905073
10CAMK1G2.07405338
11MET2.04499226
12CAMK1D2.03790747
13TAOK32.00868374
14MAP3K91.94604483
15MAP3K31.92912685
16FGFR41.87935914
17OXSR11.81888369
18LATS21.74661109
19AKT31.68159262
20PTK21.64778125
21EPHA21.62814330
22ERBB41.52430519
23TGFBR21.52295706
24ERN11.51051113
25TYK21.50773318
26CDC42BPA1.49100975
27BCKDK1.47748581
28ARAF1.44266143
29MAPKAPK51.40227205
30TAOK21.40032981
31PRPF4B1.27795410
32JAK11.26944689
33ICK1.24888597
34INSRR1.22450846
35CSF1R1.22292512
36SGK2231.21822964
37SGK4941.21822964
38PAK41.19440410
39BLK1.18467823
40MAP3K131.17570744
41KIT1.17005809
42EPHA31.16733352
43PTK61.15937728
44FGR1.15370042
45CSNK1A1L1.10430364
46MAP3K141.10193431
47MTOR1.08971559
48TBK11.08780914
49CLK11.07849756
50EEF2K1.07097518
51MELK1.04973354
52STK381.04446683
53LATS11.03350068
54WNK11.03261711
55CSK1.01775100
56BMX0.99044625
57LMTK20.98353664
58MST1R0.98078880
59PRKD10.97896452
60MATK0.97738412
61PRKCQ0.93842928
62ZAP700.90210897
63TTN0.89738592
64ITK0.89229547
65PHKG10.89054703
66PHKG20.89054703
67GSK3A0.88617373
68CSNK1G10.88616875
69NEK90.88002887
70MAP3K10.87994118
71PIM20.87883808
72ACVR1B0.87878269
73ERBB20.87703853
74MAPK70.87574361
75MAPK110.87400250
76PDPK10.86912004
77MAP3K20.86819568
78JAK20.85984894
79IRAK30.84467137
80TRIB30.83774115
81NTRK10.83220549
82MAPK120.82549546
83PRKAA20.81747274
84BCR0.81735020
85MAPK150.80677770
86TRPM70.80677488
87NME20.79805092
88PAK20.79230223
89PIK3CG0.78665535
90ROCK20.78546150
91KSR10.78493409
92CSNK1G30.78106312
93MOS0.77394686
94FGFR30.76554199
95EPHA40.76427300
96PRKCH0.75135618
97PDK20.74382879
98HCK0.74183190
99PAK60.73446646
100CHUK0.71752493
101MARK30.70865762
102IRAK20.70743971
103PDGFRB0.69869943
104FES0.69726594
105NEK60.69435468
106CAMK2G0.68880969
107CSNK1G20.68542464
108CAMK2D0.66128401
109SGK30.65613090
110ABL20.63617236
111RAF10.61816988
112ABL10.61176703
113DMPK0.60906997
114MARK20.60585898
115EGFR0.60566144
116BRD40.60341850
117CDK60.60010183
118TYRO30.59935708
119FYN0.59772025
120MAP3K70.59741430
121MAP3K60.59614507
122IRAK10.58400459
123MAP3K80.57697522
124MAP2K30.56141940
125GRK70.55792620
126IKBKE0.55621867
127PAK30.53705979
128KSR20.53631354
129BMPR20.53012139
130PRKD20.52260130
131LIMK10.49998087
132CAMK2B0.49539153
133BRAF0.49467142
134STK240.48665274
135NUAK10.48572527
136PDK10.48302744
137RIPK10.48088211
138MAP3K50.47313992
139STK100.47114094
140SCYL20.45133401
141LCK0.44481457
142PRKCE0.44057656
143TAOK10.43917323
144IKBKB0.41845234
145FER0.41625525
146JAK30.40170747
147CDK90.40167386
148STK30.37591516
149RPS6KA20.37180209
150RET0.35155948

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.29732807
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.56596298
3Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.17730651
4Steroid biosynthesis_Homo sapiens_hsa001002.76175922
5Complement and coagulation cascades_Homo sapiens_hsa046102.64332410
6Staphylococcus aureus infection_Homo sapiens_hsa051502.54968593
7Arginine biosynthesis_Homo sapiens_hsa002202.44686523
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.42334895
9Fatty acid elongation_Homo sapiens_hsa000622.36735021
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.17336143
11Histidine metabolism_Homo sapiens_hsa003402.09869709
12Fatty acid degradation_Homo sapiens_hsa000712.07947255
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.03124709
14Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.00067617
15Tryptophan metabolism_Homo sapiens_hsa003801.92930284
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.92100485
17Fatty acid metabolism_Homo sapiens_hsa012121.87531194
18Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.84380519
19PPAR signaling pathway_Homo sapiens_hsa033201.83254857
20Peroxisome_Homo sapiens_hsa041461.80408008
21Butanoate metabolism_Homo sapiens_hsa006501.72938968
22TNF signaling pathway_Homo sapiens_hsa046681.67619432
23Caffeine metabolism_Homo sapiens_hsa002321.67336355
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62727474
25Pentose and glucuronate interconversions_Homo sapiens_hsa000401.61858593
26Steroid hormone biosynthesis_Homo sapiens_hsa001401.59016812
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.58658271
28Chemical carcinogenesis_Homo sapiens_hsa052041.58112962
29Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.56109542
30Bladder cancer_Homo sapiens_hsa052191.49258316
31Bile secretion_Homo sapiens_hsa049761.44833383
32ABC transporters_Homo sapiens_hsa020101.42580671
33Propanoate metabolism_Homo sapiens_hsa006401.40907550
34Retinol metabolism_Homo sapiens_hsa008301.39787395
35beta-Alanine metabolism_Homo sapiens_hsa004101.38262566
36Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.35520988
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.32697158
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.31867603
39NF-kappa B signaling pathway_Homo sapiens_hsa040641.28555583
40* Lysosome_Homo sapiens_hsa041421.28225107
41Toxoplasmosis_Homo sapiens_hsa051451.24411786
42Glycosaminoglycan degradation_Homo sapiens_hsa005311.23848735
43Vitamin B6 metabolism_Homo sapiens_hsa007501.20234865
44Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.18621639
45AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.18299543
46Proteoglycans in cancer_Homo sapiens_hsa052051.16826446
47Sulfur metabolism_Homo sapiens_hsa009201.12946318
48Focal adhesion_Homo sapiens_hsa045101.11277178
49Small cell lung cancer_Homo sapiens_hsa052221.06902185
50Legionellosis_Homo sapiens_hsa051341.06266990
51Salmonella infection_Homo sapiens_hsa051321.04241247
52Vibrio cholerae infection_Homo sapiens_hsa051101.03710404
53Chronic myeloid leukemia_Homo sapiens_hsa052201.03149309
54Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.02349145
55Pancreatic cancer_Homo sapiens_hsa052121.01150049
56Tyrosine metabolism_Homo sapiens_hsa003500.98011096
57Adherens junction_Homo sapiens_hsa045200.97946895
58Apoptosis_Homo sapiens_hsa042100.97930106
59Starch and sucrose metabolism_Homo sapiens_hsa005000.97329365
60Arginine and proline metabolism_Homo sapiens_hsa003300.96024241
61NOD-like receptor signaling pathway_Homo sapiens_hsa046210.95588636
62Influenza A_Homo sapiens_hsa051640.93450441
63Ether lipid metabolism_Homo sapiens_hsa005650.93183928
64VEGF signaling pathway_Homo sapiens_hsa043700.91629912
65Vitamin digestion and absorption_Homo sapiens_hsa049770.91607313
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.91093983
67Fatty acid biosynthesis_Homo sapiens_hsa000610.90938145
68Phenylalanine metabolism_Homo sapiens_hsa003600.90179183
69MicroRNAs in cancer_Homo sapiens_hsa052060.89357272
70Acute myeloid leukemia_Homo sapiens_hsa052210.89061276
71Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.87457317
72Drug metabolism - other enzymes_Homo sapiens_hsa009830.85723378
73Central carbon metabolism in cancer_Homo sapiens_hsa052300.81330657
74Fat digestion and absorption_Homo sapiens_hsa049750.79772316
75Shigellosis_Homo sapiens_hsa051310.79127563
76mTOR signaling pathway_Homo sapiens_hsa041500.78106803
77Lysine degradation_Homo sapiens_hsa003100.77442412
78Hepatitis B_Homo sapiens_hsa051610.77392632
79Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.76988404
80RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.76445340
81Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.76206489
82Folate biosynthesis_Homo sapiens_hsa007900.76122017
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.74565352
84Prolactin signaling pathway_Homo sapiens_hsa049170.73528113
85Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.73108506
86ErbB signaling pathway_Homo sapiens_hsa040120.72857980
87Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70615349
88Glycerolipid metabolism_Homo sapiens_hsa005610.70295324
89Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.69364058
90Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.68563736
91Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.68405445
92HIF-1 signaling pathway_Homo sapiens_hsa040660.67681772
93GnRH signaling pathway_Homo sapiens_hsa049120.67559753
94Non-small cell lung cancer_Homo sapiens_hsa052230.67280514
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.67003955
96Endometrial cancer_Homo sapiens_hsa052130.66245502
97Sphingolipid metabolism_Homo sapiens_hsa006000.65071112
98Fructose and mannose metabolism_Homo sapiens_hsa000510.64556047
99African trypanosomiasis_Homo sapiens_hsa051430.64545922
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63021450
101Inositol phosphate metabolism_Homo sapiens_hsa005620.62705292
102Prion diseases_Homo sapiens_hsa050200.62545859
103Jak-STAT signaling pathway_Homo sapiens_hsa046300.62362066
104N-Glycan biosynthesis_Homo sapiens_hsa005100.61366444
105Pyruvate metabolism_Homo sapiens_hsa006200.61278807
106Galactose metabolism_Homo sapiens_hsa000520.61159683
107Measles_Homo sapiens_hsa051620.60973646
108B cell receptor signaling pathway_Homo sapiens_hsa046620.60878850
109alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60305690
110Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58053039
111Estrogen signaling pathway_Homo sapiens_hsa049150.57772729
1122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.56916421
113Malaria_Homo sapiens_hsa051440.56447798
114Selenocompound metabolism_Homo sapiens_hsa004500.56180284
115Leukocyte transendothelial migration_Homo sapiens_hsa046700.56063217
116Cysteine and methionine metabolism_Homo sapiens_hsa002700.55522134
117Hematopoietic cell lineage_Homo sapiens_hsa046400.55314923
118FoxO signaling pathway_Homo sapiens_hsa040680.54534863
119Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.54433612
120Notch signaling pathway_Homo sapiens_hsa043300.54263202
121Other glycan degradation_Homo sapiens_hsa005110.54117537
122Prostate cancer_Homo sapiens_hsa052150.53785975
123Chemokine signaling pathway_Homo sapiens_hsa040620.53417987
124Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53195380
125Glioma_Homo sapiens_hsa052140.52768720
126Thyroid cancer_Homo sapiens_hsa052160.50634755
127Glutathione metabolism_Homo sapiens_hsa004800.50376423
128Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.50276313
129Glycerophospholipid metabolism_Homo sapiens_hsa005640.50240681
130Circadian rhythm_Homo sapiens_hsa047100.50006995
131Linoleic acid metabolism_Homo sapiens_hsa005910.46015929
132Phagosome_Homo sapiens_hsa041450.41884292
133Biosynthesis of amino acids_Homo sapiens_hsa012300.41846245
134Carbon metabolism_Homo sapiens_hsa012000.41061347
135Adipocytokine signaling pathway_Homo sapiens_hsa049200.38405500
136Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37786465
137Ovarian steroidogenesis_Homo sapiens_hsa049130.37748880
138Mineral absorption_Homo sapiens_hsa049780.37739030
139Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.35765981
140Pertussis_Homo sapiens_hsa051330.30896310
141Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.30169139
142Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.27599753
143Osteoclast differentiation_Homo sapiens_hsa043800.27183071
144Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24997134
145Insulin resistance_Homo sapiens_hsa049310.24667066
146Toll-like receptor signaling pathway_Homo sapiens_hsa046200.22580137
147Metabolic pathways_Homo sapiens_hsa011000.22562540
148Rheumatoid arthritis_Homo sapiens_hsa053230.22023150
149Sulfur relay system_Homo sapiens_hsa041220.20762767
150Renal cell carcinoma_Homo sapiens_hsa052110.18435755
151Dorso-ventral axis formation_Homo sapiens_hsa043200.17094884
152Sphingolipid signaling pathway_Homo sapiens_hsa040710.16663779
153Amoebiasis_Homo sapiens_hsa051460.15901813
154Tuberculosis_Homo sapiens_hsa051520.15870836
155Hepatitis C_Homo sapiens_hsa051600.13690359
156Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.12078219
157Leishmaniasis_Homo sapiens_hsa051400.11332611
158Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.10960771
159Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.10409183
160Pentose phosphate pathway_Homo sapiens_hsa000300.07885033
161ECM-receptor interaction_Homo sapiens_hsa045120.07023589
162Phospholipase D signaling pathway_Homo sapiens_hsa040720.06475694
163Endocytosis_Homo sapiens_hsa041440.06216752

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