PGAP3

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 glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)7.72968315
2somite rostral/caudal axis specification (GO:0032525)6.69928872
3maintenance of protein location in nucleus (GO:0051457)6.59916491
4negative regulation of epidermis development (GO:0045683)6.35286987
5regulation of response to osmotic stress (GO:0047484)6.19269904
6negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)6.07868546
7regulation of mammary gland epithelial cell proliferation (GO:0033599)6.01947927
8protein localization to kinetochore (GO:0034501)5.66621464
9negative regulation of cell cycle G2/M phase transition (GO:1902750)5.52284744
10muscle organ morphogenesis (GO:0048644)5.50589047
11negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.41126604
12histone H4-K5 acetylation (GO:0043981)5.33796531
13histone H4-K8 acetylation (GO:0043982)5.33796531
14cytidine metabolic process (GO:0046087)5.32422047
15cytidine catabolic process (GO:0006216)5.32422047
16cytidine deamination (GO:0009972)5.32422047
17regulation of nuclear cell cycle DNA replication (GO:0033262)5.25500262
18negative regulation of telomerase activity (GO:0051974)5.21167650
19rRNA transcription (GO:0009303)5.11602765
20histone H4-K12 acetylation (GO:0043983)5.09743924
21hormone catabolic process (GO:0042447)5.04319237
22regulation of MHC class I biosynthetic process (GO:0045343)5.00439486
23regulation of telomere maintenance via telomerase (GO:0032210)5.00274697
24interferon-gamma production (GO:0032609)4.97677453
25negative regulation of epidermal cell differentiation (GO:0045605)4.82181581
26negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.74316068
27heterochromatin organization (GO:0070828)4.69092114
28primitive streak formation (GO:0090009)4.64495949
29regulation of apoptotic process involved in morphogenesis (GO:1902337)4.64476535
30phenol-containing compound catabolic process (GO:0019336)4.41055003
31notochord development (GO:0030903)4.34127925
32mitotic sister chromatid segregation (GO:0000070)4.32190292
33positive regulation of protein deacetylation (GO:0090312)4.28011177
34nucleoside transmembrane transport (GO:1901642)4.22077456
35branching involved in mammary gland duct morphogenesis (GO:0060444)4.20815730
36regulation of cilium movement (GO:0003352)4.18717829
37positive regulation of histone deacetylation (GO:0031065)4.13201231
38regulation of female receptivity (GO:0045924)4.11563815
39response to dietary excess (GO:0002021)4.09271455
40maintenance of protein localization in organelle (GO:0072595)4.07974159
41coenzyme catabolic process (GO:0009109)4.07533986
42positive regulation of DNA-dependent DNA replication (GO:2000105)4.05624499
43intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)4.02429444
44histone H4-K16 acetylation (GO:0043984)4.00072506
45intestinal epithelial cell development (GO:0060576)3.98832256
46protein localization to chromosome, centromeric region (GO:0071459)3.98079804
47cellular modified amino acid catabolic process (GO:0042219)3.96878512
48negative regulation of potassium ion transmembrane transport (GO:1901380)3.96775547
49chromatin assembly (GO:0031497)3.96329266
50DNA replication-dependent nucleosome organization (GO:0034723)3.95614447
51DNA replication-dependent nucleosome assembly (GO:0006335)3.95614447
52pyrimidine ribonucleoside catabolic process (GO:0046133)3.94618151
53regulation of translation in response to stress (GO:0043555)3.93681000
54maternal placenta development (GO:0001893)3.86438460
55vitamin A metabolic process (GO:0006776)3.85637737
56female mating behavior (GO:0060180)3.84360679
57retinoic acid receptor signaling pathway (GO:0048384)3.84244341
58rRNA methylation (GO:0031167)3.78102712
59quinone metabolic process (GO:1901661)3.77784153
60intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.77081144
61mitochondrion distribution (GO:0048311)3.63228945
62tachykinin receptor signaling pathway (GO:0007217)3.61683017
63negative regulation of erythrocyte differentiation (GO:0045647)3.61636062
64GDP-mannose metabolic process (GO:0019673)3.58328393
65trophectodermal cell differentiation (GO:0001829)3.57974434
66sister chromatid segregation (GO:0000819)3.55298059
67mRNA stabilization (GO:0048255)3.54076061
68RNA stabilization (GO:0043489)3.54076061
69cardiovascular system development (GO:0072358)3.50914532
70negative regulation of telomere maintenance (GO:0032205)3.50128271
71fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.47378561
72rRNA modification (GO:0000154)3.43752380
73cell fate commitment involved in formation of primary germ layer (GO:0060795)3.41395771
74hypotonic response (GO:0006971)3.41279708
75nuclear pore complex assembly (GO:0051292)3.37632283
76bone trabecula formation (GO:0060346)3.32888283
77regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.32306138
78epoxygenase P450 pathway (GO:0019373)3.32147501
79regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.29395537
80pre-miRNA processing (GO:0031054)3.28888343
81arachidonic acid secretion (GO:0050482)3.26101796
82icosanoid secretion (GO:0032309)3.26101796
83regulation of cholesterol homeostasis (GO:2000188)3.25013147
84mannose metabolic process (GO:0006013)3.24766230
85glycosphingolipid catabolic process (GO:0046479)3.24301295
86barbed-end actin filament capping (GO:0051016)3.22279148
87response to muramyl dipeptide (GO:0032495)3.21560220
88negative regulation of cell size (GO:0045792)3.19806774
89transcription from mitochondrial promoter (GO:0006390)3.18244146
90proline transport (GO:0015824)3.18075409
91DNA replication checkpoint (GO:0000076)3.17663449
92regulation of hippo signaling (GO:0035330)3.17566908
93antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.17145581
94negative regulation of interleukin-2 production (GO:0032703)3.16712802
95regulation of extracellular matrix disassembly (GO:0010715)3.13411065
96positive regulation of odontogenesis (GO:0042482)3.13314745
97regulation of glucose import in response to insulin stimulus (GO:2001273)3.12578914
98negative regulation of peptidyl-serine phosphorylation (GO:0033137)3.12278525
99signal transduction involved in regulation of gene expression (GO:0023019)3.11747771
100regulation of gene silencing by miRNA (GO:0060964)3.11664759
101regulation of gene silencing by RNA (GO:0060966)3.11664759
102regulation of posttranscriptional gene silencing (GO:0060147)3.11664759
103apoptotic DNA fragmentation (GO:0006309)3.08035269
104detection of bacterium (GO:0016045)3.07657419
105microtubule severing (GO:0051013)3.07193007
106negative regulation of granulocyte differentiation (GO:0030853)3.07040928
107establishment of endothelial barrier (GO:0061028)3.06752733
108regulation of telomerase activity (GO:0051972)3.05570077
109amyloid precursor protein catabolic process (GO:0042987)3.04967648
110nucleoside transport (GO:0015858)3.03068920
111intracellular estrogen receptor signaling pathway (GO:0030520)3.02584265
112antigen processing and presentation of endogenous antigen (GO:0019883)3.02550581
113negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.02072579
114adaptation of signaling pathway (GO:0023058)3.01456856
115glycolipid catabolic process (GO:0019377)2.99377964
116stress granule assembly (GO:0034063)2.98747224
117negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.94485557
118negative regulation of cell killing (GO:0031342)2.94485557
119negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.90694905
120negative regulation of T cell differentiation in thymus (GO:0033085)2.87043919
121detection of other organism (GO:0098543)2.86816460
122positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.86147683
123antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.85688898
124C21-steroid hormone biosynthetic process (GO:0006700)2.81793936
125signal complex assembly (GO:0007172)2.81407292
126tolerance induction (GO:0002507)2.80328773
127negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.76937731
128antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.75895458
129desmosome organization (GO:0002934)2.74587185
130semaphorin-plexin signaling pathway (GO:0071526)2.71023079
131proline metabolic process (GO:0006560)2.69717336
132regulation of gamma-delta T cell differentiation (GO:0045586)2.68171862
133ethanol metabolic process (GO:0006067)2.67699223
134epithelial cell differentiation involved in prostate gland development (GO:0060742)2.65799759
135positive regulation of Cdc42 GTPase activity (GO:0043089)2.65416528
136Golgi transport vesicle coating (GO:0048200)2.63952023
137COPI coating of Golgi vesicle (GO:0048205)2.63952023
138maintenance of gastrointestinal epithelium (GO:0030277)2.62660554
139progesterone metabolic process (GO:0042448)2.61737427
140positive regulation of cholesterol efflux (GO:0010875)2.59445874
141response to peptidoglycan (GO:0032494)2.58653555
142regulation of gamma-delta T cell activation (GO:0046643)2.58446271
143regulation of T-helper 2 cell differentiation (GO:0045628)2.55003461
144cellular response to thyroid hormone stimulus (GO:0097067)2.50648386
145positive regulation of triglyceride lipase activity (GO:0061365)2.49520918
146positive regulation of lipoprotein lipase activity (GO:0051006)2.49520918
147phospholipid efflux (GO:0033700)2.49467055
148peptidyl-tyrosine autophosphorylation (GO:0038083)2.48172150
149ceramide catabolic process (GO:0046514)2.45474013
150amyloid precursor protein metabolic process (GO:0042982)2.44712415
151regulation of cholesterol metabolic process (GO:0090181)2.44712189
152regulation of cholesterol storage (GO:0010885)2.38163236
153phosphatidylglycerol biosynthetic process (GO:0006655)2.36751952
154regulation of extracellular matrix organization (GO:1903053)2.36038660
155positive regulation of fatty acid biosynthetic process (GO:0045723)2.35044700
1564-hydroxyproline metabolic process (GO:0019471)2.34555176
157response to laminar fluid shear stress (GO:0034616)2.34342171
158urea cycle (GO:0000050)2.33973231
159regulation of dendritic cell antigen processing and presentation (GO:0002604)2.33327274
160response to thyroid hormone (GO:0097066)2.32221571
161urea metabolic process (GO:0019627)2.31031447
162positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.28911462
163regulation of leukocyte degranulation (GO:0043300)2.26829781
164germinal center formation (GO:0002467)2.26509236
165regulation of cholesterol biosynthetic process (GO:0045540)2.26195067
166positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.24640620
167detection of external biotic stimulus (GO:0098581)2.24190853
168regulation of necrotic cell death (GO:0010939)2.24150982
169negative regulation of fatty acid biosynthetic process (GO:0045717)2.23877489
170ethanol oxidation (GO:0006069)2.23585344
171complement activation, alternative pathway (GO:0006957)2.23349856
172regulation of hydrogen peroxide metabolic process (GO:0010310)2.22986708
173positive regulation of gamma-delta T cell activation (GO:0046645)2.22658896
174N-acetylneuraminate metabolic process (GO:0006054)2.22062310
175oligosaccharide catabolic process (GO:0009313)2.21666744
176positive regulation of type 2 immune response (GO:0002830)2.21622156
177negative regulation of innate immune response (GO:0045824)2.21579439
178epithelial structure maintenance (GO:0010669)2.20819168
179positive regulation of keratinocyte differentiation (GO:0045618)2.19644760
180nitrogen cycle metabolic process (GO:0071941)2.19348675
181alpha-linolenic acid metabolic process (GO:0036109)2.17940550
182positive regulation of cholesterol transport (GO:0032376)2.17638895
183positive regulation of sterol transport (GO:0032373)2.17638895
184NIK/NF-kappaB signaling (GO:0038061)2.17624148
185response to protozoan (GO:0001562)2.16761904
186regulation of myeloid leukocyte mediated immunity (GO:0002886)2.14804863
187negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.13588312
188sphingolipid catabolic process (GO:0030149)2.13577947
189regulation of bile acid biosynthetic process (GO:0070857)2.12083142
190positive regulation by organism of defense response of other organism involved in symbiotic interact2.11861466
191modulation by symbiont of host immune response (GO:0052553)2.11861466
192positive regulation by symbiont of host defense response (GO:0052509)2.11861466
193modulation by symbiont of host defense response (GO:0052031)2.11861466
194modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.11861466
195daunorubicin metabolic process (GO:0044597)11.4118175
196polyketide metabolic process (GO:0030638)11.4118175
197doxorubicin metabolic process (GO:0044598)11.4118175

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.76472488
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.88152797
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.88152797
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.88152797
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.78116511
6THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.18844323
7E2F7_22180533_ChIP-Seq_HELA_Human2.86251815
8TP63_19390658_ChIP-ChIP_HaCaT_Human2.72472243
9NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.71941019
10POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.69672596
11SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.51931124
12SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.51084162
13SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.33132131
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.30232118
15PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.22046922
16NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.19621808
17TCF3_18692474_ChIP-Seq_MEFs_Mouse2.16012158
18TCF3_18692474_ChIP-Seq_MESCs_Mouse2.14575043
19MYC_22102868_ChIP-Seq_BL_Human2.03106549
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.03088182
21NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.98602188
22NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.95222503
23ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.94655758
24NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.87163162
25ESR1_21235772_ChIP-Seq_MCF-7_Human1.87068857
26TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.85798654
27KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.82143229
28IRF8_22096565_ChIP-ChIP_GC-B_Human1.80098327
29TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79473998
30ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.78392312
31STAT3_1855785_ChIP-Seq_MESCs_Mouse1.77224531
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.74847641
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74385318
34ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.71181355
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.70814213
36NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.69299660
37RXR_22158963_ChIP-Seq_LIVER_Mouse1.68010046
38CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.66041711
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.64108848
40SA1_27219007_Chip-Seq_ERYTHROID_Human1.63204339
41DNAJC2_21179169_ChIP-ChIP_NT2_Human1.63191298
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.62918776
43ZFP281_18757296_ChIP-ChIP_E14_Mouse1.60440380
44VDR_24763502_ChIP-Seq_THP-1_Human1.56797687
45RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.54036938
46TET1_21451524_ChIP-Seq_MESCs_Mouse1.53016448
47CDX2_20551321_ChIP-Seq_CACO-2_Human1.52882418
48E2F4_17652178_ChIP-ChIP_JURKAT_Human1.51246086
49POU5F1_16518401_ChIP-PET_MESCs_Mouse1.50038659
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.48180207
51TCF7_22412390_ChIP-Seq_EML_Mouse1.47771686
52FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.47306147
53RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.45999491
54RUNX1_27514584_Chip-Seq_MCF-7_Human1.44978067
55KDM2B_26808549_Chip-Seq_SUP-B15_Human1.44649686
56BCL6_27268052_Chip-Seq_Bcells_Human1.43371055
57CREB1_26743006_Chip-Seq_LNCaP_Human1.42327300
58EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.41869525
59TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.41858098
60EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.41158475
61ESR1_20079471_ChIP-ChIP_T-47D_Human1.40502727
62FOXM1_23109430_ChIP-Seq_U2OS_Human1.40327002
63RUNX1_22412390_ChIP-Seq_EML_Mouse1.39866413
64SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.38142800
65UTX_26944678_Chip-Seq_JUKART_Human1.37912969
66VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.36350795
67ZFP281_27345836_Chip-Seq_ESCs_Mouse1.35497538
68MAF_26560356_Chip-Seq_TH1_Human1.34145795
69ZNF263_19887448_ChIP-Seq_K562_Human1.33730984
70MAF_26560356_Chip-Seq_TH2_Human1.33520917
71UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.33188841
72NANOG_18555785_ChIP-Seq_MESCs_Mouse1.32968046
73MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.32423090
74LXR_22292898_ChIP-Seq_THP-1_Human1.28683499
75ELK3_25401928_ChIP-Seq_HUVEC_Human1.28171186
76CTCF_27219007_Chip-Seq_Bcells_Human1.28110038
77NANOG_18692474_ChIP-Seq_MEFs_Mouse1.27666110
78NANOG_18692474_ChIP-Seq_MESCs_Mouse1.26312135
79NCOR1_26117541_ChIP-Seq_K562_Human1.26151250
80SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.24169810
81E2F1_17053090_ChIP-ChIP_MCF-7_Human1.23805061
82SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.23769287
83POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.23725707
84SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.23093447
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.22847880
86PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22787433
87CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.22555881
88OCT4_18692474_ChIP-Seq_MEFs_Mouse1.22276923
89GATA1_22383799_ChIP-Seq_G1ME_Mouse1.22178392
90SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.22012236
91BRD4_27068464_Chip-Seq_AML-cells_Mouse1.21606394
92KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.21442940
93POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.21357607
94PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.20207643
95NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.19816747
96KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.19412483
97IRF1_19129219_ChIP-ChIP_H3396_Human1.18458607
98P63_26484246_Chip-Seq_KERATINOCYTES_Human1.18431234
99RACK7_27058665_Chip-Seq_MCF-7_Human1.18027077
100PU.1_20513432_ChIP-Seq_Bcells_Mouse1.17839141
101* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.17785549
102NOTCH1_21737748_ChIP-Seq_TLL_Human1.17373554
103KDM2B_26808549_Chip-Seq_JURKAT_Human1.17137053
104TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16581206
105FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.16517586
106STAT6_21828071_ChIP-Seq_BEAS2B_Human1.16363581
107ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.14754862
108GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13724034
109SA1_27219007_Chip-Seq_Bcells_Human1.13475725
110CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.11242156
111TP53_22127205_ChIP-Seq_IMR90_Human1.10997368
112CTCF_26484167_Chip-Seq_Bcells_Mouse1.10944458
113STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10890853
114TP63_22573176_ChIP-Seq_HFKS_Human1.10648895
115* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.09576627
116EGR1_19374776_ChIP-ChIP_THP-1_Human1.08767098
117* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08341375
118MYC_19079543_ChIP-ChIP_MESCs_Mouse1.07059382
119SOX2_18692474_ChIP-Seq_MESCs_Mouse1.06915974
120TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.06672711
121CLOCK_20551151_ChIP-Seq_293T_Human1.05526893
122GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.05479946
123E2F1_20622854_ChIP-Seq_HELA_Human1.05205916
124* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.05143910
125EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.04603606
126SOX2_18692474_ChIP-Seq_MEFs_Mouse1.04033808
127GATA1_19941826_ChIP-Seq_K562_Human1.02215380
128TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.02090428
129SCL_19346495_ChIP-Seq_HPC-7_Human1.01893859
130CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01711597
131SMC4_20622854_ChIP-Seq_HELA_Human1.01343885
132YY1_21170310_ChIP-Seq_MESCs_Mouse1.00670389
133PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00319400
134KDM2B_26808549_Chip-Seq_K562_Human0.98977101
135NANOG_21062744_ChIP-ChIP_HESCs_Human0.98700442
136POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.97262793
137MYC_18555785_ChIP-Seq_MESCs_Mouse0.96684782
138NANOG_16518401_ChIP-PET_MESCs_Mouse0.95678027
139CTCF_21964334_Chip-Seq_Bcells_Human0.95487418
140FOXO3_23340844_ChIP-Seq_DLD1_Human0.92450952
141ELF1_20517297_ChIP-Seq_JURKAT_Human0.91386542
142MYC_19030024_ChIP-ChIP_MESCs_Mouse0.90622283
143ESR2_21235772_ChIP-Seq_MCF-7_Human0.90616187
144E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.90459634
145SOX2_18555785_ChIP-Seq_MESCs_Mouse0.90422561
146SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90307539
147PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.88783858
148P68_20966046_ChIP-Seq_HELA_Human0.88119444
149WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87785442
150KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.86237327
151KDM2B_26808549_Chip-Seq_DND41_Human0.84273602
152YY1_22570637_ChIP-Seq_MALME-3M_Human0.83491003
153BCOR_27268052_Chip-Seq_Bcells_Human0.83465774
154VDR_21846776_ChIP-Seq_THP-1_Human0.82458392
155NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.81634569
156NANOG_16153702_ChIP-ChIP_HESCs_Human0.80886647
157MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.80485233
158SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.80293387
159MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.79858111
160KLF4_18555785_ChIP-Seq_MESCs_Mouse0.79472498
161CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.78897538
162TP63_17297297_ChIP-ChIP_HaCaT_Human0.77045920
163MYC_18358816_ChIP-ChIP_MESCs_Mouse0.76744897
164CTCF_27219007_Chip-Seq_ERYTHROID_Human0.76710708
165IKZF1_21737484_ChIP-ChIP_HCT116_Human0.75938873
166GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.74349144
167GATA6_25053715_ChIP-Seq_YYC3_Human0.74140585
168PHF8_20622854_ChIP-Seq_HELA_Human0.73480606

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004264_abnormal_extraembryonic_tissu4.90829008
2MP0002254_reproductive_system_inflammat4.65657276
3MP0003011_delayed_dark_adaptation4.54021815
4MP0005058_abnormal_lysosome_morphology3.95191982
5MP0004858_abnormal_nervous_system3.48800957
6MP0006292_abnormal_olfactory_placode3.40794672
7MP0003890_abnormal_embryonic-extraembry3.28114952
8MP0003436_decreased_susceptibility_to3.25347462
9MP0003705_abnormal_hypodermis_morpholog3.16732808
10MP0003724_increased_susceptibility_to3.10192705
11MP0005394_taste/olfaction_phenotype3.09147416
12MP0005499_abnormal_olfactory_system3.09147416
13MP0003191_abnormal_cellular_cholesterol2.92132702
14MP0009840_abnormal_foam_cell2.91848539
15MP0010352_gastrointestinal_tract_polyps2.83808806
16MP0005075_abnormal_melanosome_morpholog2.77034059
17MP0005360_urolithiasis2.76905098
18MP0003122_maternal_imprinting2.71527056
19MP0002332_abnormal_exercise_endurance2.70142913
20MP0008961_abnormal_basal_metabolism2.54927363
21MP0003183_abnormal_peptide_metabolism2.46359400
22MP0002139_abnormal_hepatobiliary_system2.35688826
23MP0008260_abnormal_autophagy2.35584935
24MP0005365_abnormal_bile_salt2.30106458
25MP0004957_abnormal_blastocyst_morpholog2.30086315
26MP0005257_abnormal_intraocular_pressure2.28887843
27MP0006035_abnormal_mitochondrial_morpho2.14298052
28MP0003300_gastrointestinal_ulcer2.12440975
29MP0008057_abnormal_DNA_replication2.11225541
30MP0002653_abnormal_ependyma_morphology2.11181639
31MP0000678_abnormal_parathyroid_gland2.08970032
32MP0006082_CNS_inflammation1.98360919
33MP0010155_abnormal_intestine_physiology1.93413247
34MP0005451_abnormal_body_composition1.92846157
35MP0009278_abnormal_bone_marrow1.91865959
36MP0001849_ear_inflammation1.90876161
37MP0003303_peritoneal_inflammation1.90512673
38MP0002127_abnormal_cardiovascular_syste1.86243938
39MP0008875_abnormal_xenobiotic_pharmacok1.84445042
40MP0004947_skin_inflammation1.82912756
41MP0001533_abnormal_skeleton_physiology1.80250712
42MP0003121_genomic_imprinting1.78577569
43MP0004043_abnormal_pH_regulation1.73289620
44MP0005025_abnormal_response_to1.70913900
45MP0001672_abnormal_embryogenesis/_devel1.68335823
46MP0005380_embryogenesis_phenotype1.68335823
47MP0000465_gastrointestinal_hemorrhage1.67349073
48MP0002088_abnormal_embryonic_growth/wei1.66316975
49MP0010030_abnormal_orbit_morphology1.64463408
50MP0003984_embryonic_growth_retardation1.64296815
51MP0002419_abnormal_innate_immunity1.59808848
52MP0003283_abnormal_digestive_organ1.51446366
53MP0009384_cardiac_valve_regurgitation1.51260437
54MP0005076_abnormal_cell_differentiation1.49330225
55MP0005000_abnormal_immune_tolerance1.41656459
56MP0002932_abnormal_joint_morphology1.39650758
57MP0001790_abnormal_immune_system1.39271922
58MP0005387_immune_system_phenotype1.39271922
59MP0003453_abnormal_keratinocyte_physiol1.38577919
60MP0003938_abnormal_ear_development1.33168244
61MP0000762_abnormal_tongue_morphology1.32320854
62MP0002277_abnormal_respiratory_mucosa1.26130181
63MP0009785_altered_susceptibility_to1.25094285
64MP0002933_joint_inflammation1.24864698
65MP0002086_abnormal_extraembryonic_tissu1.24181821
66MP0000350_abnormal_cell_proliferation1.22836171
67MP0001873_stomach_inflammation1.22087969
68MP0005266_abnormal_metabolism1.22052096
69MP0001800_abnormal_humoral_immune1.22029410
70MP0002092_abnormal_eye_morphology1.19871616
71MP0002452_abnormal_antigen_presenting1.19813724
72MP0000490_abnormal_crypts_of1.18778974
73MP0000749_muscle_degeneration1.18407822
74MP0001851_eye_inflammation1.18313989
75MP0009333_abnormal_splenocyte_physiolog1.18295312
76MP0002723_abnormal_immune_serum1.18171390
77MP0002148_abnormal_hypersensitivity_rea1.18136555
78MP0001293_anophthalmia1.17371080
79MP0002970_abnormal_white_adipose1.16864387
80MP0008004_abnormal_stomach_pH1.16318454
81MP0003763_abnormal_thymus_physiology1.15575579
82MP0001819_abnormal_immune_cell1.14371425
83MP0003123_paternal_imprinting1.13551129
84MP0003137_abnormal_impulse_conducting1.12592333
85MP0003828_pulmonary_edema1.12570623
86MP0000049_abnormal_middle_ear1.10649345
87MP0002420_abnormal_adaptive_immunity1.10491925
88MP0004185_abnormal_adipocyte_glucose1.09534434
89MP0002998_abnormal_bone_remodeling1.09527564
90MP0003329_amyloid_beta_deposits1.09092604
91MP0005390_skeleton_phenotype1.08773259
92MP0001845_abnormal_inflammatory_respons1.08329396
93MP0003075_altered_response_to1.07293065
94MP0000604_amyloidosis1.07039684
95MP0002085_abnormal_embryonic_tissue1.06509094
96MP0008789_abnormal_olfactory_epithelium1.06446482
97MP0001835_abnormal_antigen_presentation1.05933371
98MP0000750_abnormal_muscle_regeneration1.05214616
99MP0001545_abnormal_hematopoietic_system1.03966366
100MP0005397_hematopoietic_system_phenotyp1.03966366
101MP0005464_abnormal_platelet_physiology1.03422670
102MP0005248_abnormal_Harderian_gland1.03135692
103MP0003279_aneurysm1.03004104
104MP0003866_abnormal_defecation1.01654762
105MP0005670_abnormal_white_adipose1.01459137
106MP0008469_abnormal_protein_level1.01177569
107MP0003119_abnormal_digestive_system1.00974877
108MP0000003_abnormal_adipose_tissue1.00393610
109MP0005083_abnormal_biliary_tract1.00216337
110MP0002089_abnormal_postnatal_growth/wei1.00069641
111MP0004019_abnormal_vitamin_homeostasis0.99640184
112MP0010234_abnormal_vibrissa_follicle0.99537813
113MP0000428_abnormal_craniofacial_morphol0.98537684
114MP0001958_emphysema0.98520667
115MP0005666_abnormal_adipose_tissue0.98228529
116MP0002269_muscular_atrophy0.97890170
117MP0004510_myositis0.97116539
118MP0000681_abnormal_thyroid_gland0.97024463
119MP0002396_abnormal_hematopoietic_system0.95795782
120MP0008770_decreased_survivor_rate0.95755156
121MP0005085_abnormal_gallbladder_physiolo0.94928050
122MP0002084_abnormal_developmental_patter0.94686602
123MP0002114_abnormal_axial_skeleton0.94332149
124MP0002249_abnormal_larynx_morphology0.93494632
125MP0002233_abnormal_nose_morphology0.93121576
126MP0002118_abnormal_lipid_homeostasis0.92559540
127MP0002925_abnormal_cardiovascular_devel0.92457855
128MP0001348_abnormal_lacrimal_gland0.91775049
129MP0000609_abnormal_liver_physiology0.90942721
130MP0000685_abnormal_immune_system0.88565503
131MP0005375_adipose_tissue_phenotype0.88280601
132MP0005023_abnormal_wound_healing0.86997821
133MP0004084_abnormal_cardiac_muscle0.86593432
134MP0003077_abnormal_cell_cycle0.86207461
135MP0002877_abnormal_melanocyte_morpholog0.86124842
136MP0003935_abnormal_craniofacial_develop0.85884134
137MP0004197_abnormal_fetal_growth/weight/0.85642394
138MP0009643_abnormal_urine_homeostasis0.84997759
139MP0002405_respiratory_system_inflammati0.84979239
140MP0002132_abnormal_respiratory_system0.84655619
141MP0000716_abnormal_immune_system0.83396879
142MP0005391_vision/eye_phenotype0.82714905
143MP0003690_abnormal_glial_cell0.82511064
144MP0008874_decreased_physiological_sensi0.81427949
145MP0000313_abnormal_cell_death0.79492611
146MP0001730_embryonic_growth_arrest0.79450604
147MP0000432_abnormal_head_morphology0.79346778
148MP0005166_decreased_susceptibility_to0.77787897
149MP0002909_abnormal_adrenal_gland0.77761710
150MP0005501_abnormal_skin_physiology0.77340017
151MP0005671_abnormal_response_to0.76162672
152MP0001216_abnormal_epidermal_layer0.76013569
153MP0002098_abnormal_vibrissa_morphology0.75503384
154MP0000477_abnormal_intestine_morphology0.75015232
155MP0003566_abnormal_cell_adhesion0.74545034
156MP0003879_abnormal_hair_cell0.74514146
157MP0005508_abnormal_skeleton_morphology0.74476842
158MP0002080_prenatal_lethality0.73972229
159MP0004782_abnormal_surfactant_physiolog0.73049825
160MP0000858_altered_metastatic_potential0.73017754
161MP0001697_abnormal_embryo_size0.72801657
162MP0010630_abnormal_cardiac_muscle0.71960523
163MP0000013_abnormal_adipose_tissue0.71851164
164MP0002971_abnormal_brown_adipose0.71093823
165MP0003172_abnormal_lysosome_physiology0.71055934
166MP0004381_abnormal_hair_follicle0.71002456
167MP0003448_altered_tumor_morphology0.69028766
168MP0004133_heterotaxia0.67954480
169MP0003755_abnormal_palate_morphology0.67727223
170MP0005330_cardiomyopathy0.67084339
171MP0003315_abnormal_perineum_morphology0.63969729
172MP0000377_abnormal_hair_follicle0.63333938
173MP0002116_abnormal_craniofacial_bone0.61920917
174MP0005253_abnormal_eye_physiology0.59317424
175MP0005319_abnormal_enzyme/_coenzyme0.58974864
176MP0002796_impaired_skin_barrier0.58358149
177MP0005310_abnormal_salivary_gland0.58349057
178MP0000759_abnormal_skeletal_muscle0.57341071
179MP0000266_abnormal_heart_morphology0.56707813
180MP0009703_decreased_birth_body0.56557652
181MP0006036_abnormal_mitochondrial_physio0.55284210
182MP0000358_abnormal_cell_content/0.54654658
183MP0004087_abnormal_muscle_fiber0.53948465

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.31031387
2Hypochromic microcytic anemia (HP:0004840)5.97233654
3Multiple enchondromatosis (HP:0005701)5.82116383
4Hepatoblastoma (HP:0002884)5.62023511
5Abnormality of the lower motor neuron (HP:0002366)4.92738319
6Rib fusion (HP:0000902)4.55274983
7Ependymoma (HP:0002888)4.38275447
8Hyperinsulinemic hypoglycemia (HP:0000825)3.94910577
9Testicular atrophy (HP:0000029)3.94148570
10Systemic lupus erythematosus (HP:0002725)3.82315029
11Increased cerebral lipofuscin (HP:0011813)3.71259830
12Ragged-red muscle fibers (HP:0003200)3.71245789
13Dysostosis multiplex (HP:0000943)3.61286508
14Neoplasm of striated muscle (HP:0009728)3.53523452
15Eczematoid dermatitis (HP:0000976)3.35502759
16Increased neuronal autofluorescent lipopigment (HP:0002074)3.35090644
17Loss of speech (HP:0002371)3.33961397
18Aplasia/Hypoplasia of the fovea (HP:0008060)3.27800133
19Hypoplasia of the fovea (HP:0007750)3.27800133
20Abnormal cartilage morphology (HP:0002763)3.21455874
21Nephroblastoma (Wilms tumor) (HP:0002667)3.17216838
22Abnormality of the salivary glands (HP:0010286)3.17098007
23Fused cervical vertebrae (HP:0002949)3.16409509
24Rhabdomyosarcoma (HP:0002859)3.13792790
25Partial duplication of thumb phalanx (HP:0009944)3.09380546
26Flat acetabular roof (HP:0003180)3.06837089
27Astrocytoma (HP:0009592)3.02645243
28Abnormality of the astrocytes (HP:0100707)3.02645243
29Deep venous thrombosis (HP:0002625)2.96483896
30Embryonal renal neoplasm (HP:0011794)2.90422307
31Mucopolysacchariduria (HP:0008155)2.90343189
32Urinary glycosaminoglycan excretion (HP:0003541)2.90343189
33Rectal fistula (HP:0100590)2.89386790
34Rectovaginal fistula (HP:0000143)2.89386790
35Abnormality of polysaccharide metabolism (HP:0011012)2.83115911
36Abnormality of glycosaminoglycan metabolism (HP:0004371)2.83115911
37Abnormality of mucopolysaccharide metabolism (HP:0011020)2.83115911
38Complement deficiency (HP:0004431)2.82090031
39Abnormality of monocarboxylic acid metabolism (HP:0010996)2.81668662
40Preauricular pit (HP:0004467)2.79402855
41Periauricular skin pits (HP:0100277)2.79402855
42Stomach cancer (HP:0012126)2.76224113
43Intestinal fistula (HP:0100819)2.75096949
44Trismus (HP:0000211)2.74602217
45Amyotrophic lateral sclerosis (HP:0007354)2.74337939
46Horizontal nystagmus (HP:0000666)2.73916208
47Bifid tongue (HP:0010297)2.73361599
48Thin bony cortex (HP:0002753)2.72607064
49Anomalous pulmonary venous return (HP:0010772)2.70886829
50Increased connective tissue (HP:0009025)2.69056562
51Partial duplication of the phalanx of hand (HP:0009999)2.69050856
52Interstitial pulmonary disease (HP:0006530)2.68675006
53Pendular nystagmus (HP:0012043)2.67851018
54Hypochromic anemia (HP:0001931)2.67712926
55Short humerus (HP:0005792)2.67615330
56Aplasia/hypoplasia of the humerus (HP:0006507)2.64873063
57Abnormality of complement system (HP:0005339)2.63342912
58Vaginal fistula (HP:0004320)2.62869986
59Abnormality of small intestinal villus morphology (HP:0011472)2.62846594
60Villous atrophy (HP:0011473)2.62846594
61Vacuolated lymphocytes (HP:0001922)2.62158532
62Polygenic inheritance (HP:0010982)2.61999570
63Abnormality of the fovea (HP:0000493)2.61499278
64Neoplasm of the heart (HP:0100544)2.61378911
65Glomerulonephritis (HP:0000099)2.59632186
66Hand muscle atrophy (HP:0009130)2.56784391
67Preauricular skin tag (HP:0000384)2.55967316
68Progressive muscle weakness (HP:0003323)2.55617136
69Generalized hypotonia (HP:0001290)2.51224031
70Myositis (HP:0100614)2.51123620
71Obstructive sleep apnea (HP:0002870)2.49617984
72Cervical subluxation (HP:0003308)2.47316262
73Abnormality of macrophages (HP:0004311)2.45851855
74Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.44823596
75Chromosomal breakage induced by crosslinking agents (HP:0003221)2.42493791
76Difficulty running (HP:0009046)2.41943951
77Nasal polyposis (HP:0100582)2.40512391
78Increased IgE level (HP:0003212)2.39169626
79Abnormality of glutamine family amino acid metabolism (HP:0010902)2.38293800
80Abnormal lung lobation (HP:0002101)2.37456666
81Neurofibrillary tangles (HP:0002185)2.37390444
82Reduced antithrombin III activity (HP:0001976)2.36715685
83Alveolar cell carcinoma (HP:0006519)2.36419477
84Mildly elevated creatine phosphokinase (HP:0008180)2.35815254
85Short 5th finger (HP:0009237)2.35633035
86Skin tags (HP:0010609)2.35125315
87Shawl scrotum (HP:0000049)2.35121096
88Abnormality of the pubic bones (HP:0003172)2.33792017
89Recurrent abscess formation (HP:0002722)2.32948506
90Abnormality of the musculature of the hand (HP:0001421)2.30748511
91Renal duplication (HP:0000075)2.29004306
92Recurrent gram-negative bacterial infections (HP:0005420)2.28695366
93Abnormality of the pulmonary veins (HP:0011718)2.28112751
94Colitis (HP:0002583)2.28062939
95Hemorrhage of the eye (HP:0011885)2.26356335
96Adenoma sebaceum (HP:0009720)2.26101676
97Angiofibromas (HP:0010615)2.26101676
98Microretrognathia (HP:0000308)2.25618207
99Abnormality of the distal phalanx of the thumb (HP:0009617)2.23903950
100Skin pits (HP:0100276)2.23019735
101Broad face (HP:0000283)2.22553499
102Ventricular tachycardia (HP:0004756)2.22244226
103Flat capital femoral epiphysis (HP:0003370)2.22006627
104Nuclear cataract (HP:0100018)2.20724726
105Combined immunodeficiency (HP:0005387)2.20472763
106Glossoptosis (HP:0000162)2.20424163
107Cerebral aneurysm (HP:0004944)2.19880731
108Hydroxyprolinuria (HP:0003080)2.18957211
109Abnormality of proline metabolism (HP:0010907)2.18957211
110Tetraplegia (HP:0002445)2.17315353
111Large earlobe (HP:0009748)2.16894655
112Skin nodule (HP:0200036)2.16428821
113Cheilitis (HP:0100825)2.15282125
114Purpura (HP:0000979)2.14400808
115Joint stiffness (HP:0001387)2.13828841
116Gingivitis (HP:0000230)2.13656675
117Abnormality of the phalanges of the hallux (HP:0010057)2.13586927
118Spontaneous hematomas (HP:0007420)2.12647092
119Hyperventilation (HP:0002883)2.12442310
120Tongue fasciculations (HP:0001308)2.12385629
121Pancreatic islet-cell hyperplasia (HP:0004510)2.11848079
122Pseudobulbar signs (HP:0002200)2.11746948
123Aplasia/Hypoplasia of the macula (HP:0008059)2.11121127
124Abnormality of the intrinsic pathway (HP:0010989)2.10723131
125Malnutrition (HP:0004395)2.10530401
126Distal upper limb amyotrophy (HP:0007149)2.10386576
127Upper limb amyotrophy (HP:0009129)2.10386576
128Abnormality of the nasal mucosa (HP:0000433)2.10132358
129Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.09208941
130Abnormality of chromosome segregation (HP:0002916)2.09117768
131Bone pain (HP:0002653)2.08879764
132Vertebral compression fractures (HP:0002953)2.08168452
133Sensory axonal neuropathy (HP:0003390)2.07745805
134Pustule (HP:0200039)2.07438429
135J-shaped sella turcica (HP:0002680)2.07234010
136Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.06229254
137Flattened epiphyses (HP:0003071)2.05253514
138Muscle fibrillation (HP:0010546)2.03990585
139Cellulitis (HP:0100658)2.02608958
140Neoplasm of the tracheobronchial system (HP:0100552)2.01873808
141Seborrheic dermatitis (HP:0001051)2.01664425
142Malignant neoplasm of the central nervous system (HP:0100836)2.01226158
143Asymmetric septal hypertrophy (HP:0001670)2.00624254
144Resting tremor (HP:0002322)2.00341861
145Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.00078791
146Achilles tendon contracture (HP:0001771)1.99663983
147Abnormality of the thoracic spine (HP:0100711)1.99526216
148Thoracic kyphosis (HP:0002942)1.98808174
149Recurrent bacterial skin infections (HP:0005406)1.98170487
150Metaphyseal cupping (HP:0003021)1.97745867
151Neuronal loss in central nervous system (HP:0002529)1.97375142
152Obstructive lung disease (HP:0006536)1.97309550
153Chronic obstructive pulmonary disease (HP:0006510)1.97309550
154Vertebral fusion (HP:0002948)1.95961477
155Fasciculations (HP:0002380)1.95959239
156Abnormality of glycolipid metabolism (HP:0010969)1.95919040
157Abnormality of liposaccharide metabolism (HP:0010968)1.95919040
158Abnormality of glycosphingolipid metabolism (HP:0004343)1.95919040
159Right ventricular cardiomyopathy (HP:0011663)1.95348298
160Hyperacusis (HP:0010780)1.95145873
161Glioma (HP:0009733)1.95115551
162Atelectasis (HP:0100750)1.94926908
163Distal lower limb muscle weakness (HP:0009053)1.94203982
164Nasolacrimal duct obstruction (HP:0000579)1.93970984
165Hypopigmentation of the fundus (HP:0007894)1.93683283
166Hypertriglyceridemia (HP:0002155)1.93152838
167Distal lower limb amyotrophy (HP:0008944)1.92493369
168Mediastinal lymphadenopathy (HP:0100721)1.90548900
169Ankle clonus (HP:0011448)1.90382702
170Gastrointestinal inflammation (HP:0004386)1.86849876
171Nephritis (HP:0000123)1.86634645
172Axonal loss (HP:0003447)1.85270869
173Amyloidosis (HP:0011034)1.84684350
174Emphysema (HP:0002097)1.83904816
175* Abnormal enzyme/coenzyme activity (HP:0012379)1.83892972
176Aneurysm (HP:0002617)1.83628910
177Bronchomalacia (HP:0002780)1.83332805
178Hypophosphatemia (HP:0002148)1.82795105
179Segmental peripheral demyelination/remyelination (HP:0003481)1.82410042
180Stridor (HP:0010307)1.82000890
181Elevated erythrocyte sedimentation rate (HP:0003565)1.81611424
182Orchitis (HP:0100796)1.81451320
183Visceral angiomatosis (HP:0100761)1.78331394
184Hyperactive renin-angiotensin system (HP:0000841)1.76853107
185Centrally nucleated skeletal muscle fibers (HP:0003687)1.76543462
186Abnormal tarsal ossification (HP:0008369)1.76307555
187Abdominal distention (HP:0003270)1.74800419
188Hypertensive crisis (HP:0100735)1.74740402
189Bulbar palsy (HP:0001283)1.74607465
190Abnormality of carpal bone ossification (HP:0006257)1.74284840
191Growth hormone excess (HP:0000845)1.74038137
192* Elevated alkaline phosphatase (HP:0003155)1.73964548
193Prolonged bleeding time (HP:0003010)1.72534972
194Epistaxis (HP:0000421)1.72382425

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK128.15976495
2ERN15.36049398
3GRK55.09965079
4GRK64.54738620
5GRK13.02058874
6TGFBR22.78463825
7ADRBK22.70133533
8CSF1R2.56268428
9FGFR42.52365496
10TYRO32.50364195
11STK102.40595045
12MATK2.31930487
13MAP3K112.26932272
14GRK72.23624295
15MAPK72.18083609
16SMG12.04690638
17MAP3K102.01162552
18PRPF4B1.96506404
19TTK1.87256324
20MOS1.85704068
21WNK11.83435835
22MAP2K31.81412590
23TBK11.77564334
24MAP3K131.59512845
25MST1R1.52987860
26PRKG21.50982297
27MAP3K31.50473019
28CAMK41.47650901
29HIPK21.45978895
30PAK41.45307236
31TESK11.42774056
32RIPK41.40797141
33EPHB11.37730569
34NTRK11.37351730
35CDK71.31844410
36TNK21.31239155
37TYK21.28291256
38TRIB31.27686876
39MARK21.23951398
40FGFR31.23614632
41MAP3K141.21486694
42ZAP701.16781740
43CDC42BPA1.13977327
44EPHA21.09393963
45MAP2K21.07801729
46MAP3K11.06145363
47JAK31.04632191
48ADRBK11.00992580
49FGR0.97409054
50MAP3K60.94678013
51MAP3K70.92822527
52CSK0.90515173
53SIK30.90415690
54NME20.90102862
55FES0.89956554
56EPHA30.88774434
57MAP2K40.84703506
58TESK20.84568251
59ALK0.80174159
60BTK0.76959248
61MAP2K60.75771729
62IKBKE0.73020757
63RPS6KL10.72664334
64RPS6KC10.72664334
65CHEK20.72618896
66RPS6KA20.72575455
67BMX0.72020121
68MAPK150.71514018
69RIPK10.71314329
70SIK10.70406063
71ITK0.70042969
72BLK0.68908140
73MAPK120.67428668
74MTOR0.63928480
75CAMKK10.63298569
76LMTK20.62553501
77PDGFRA0.62173962
78AKT30.62070841
79AKT20.60158042
80PLK10.58440856
81JAK10.58184867
82PTK20.57690312
83RET0.56849486
84PKN20.56220264
85RPS6KA60.54661967
86TAOK30.51936798
87PDPK10.49205045
88PRKD20.49050290
89CHEK10.48751406
90TAOK10.48573927
91KDR0.47653613
92IRAK30.45224341
93CDK90.45177874
94LCK0.43452208
95PRKCI0.43300787
96ERBB20.42995026
97PRKD10.39904789
98LYN0.39055960
99MAPKAPK30.38943692
100ICK0.37609268
101IGF1R0.37074670
102EPHB20.37048351
103PIM20.36823196
104MET0.36657532
105DYRK1B0.36015227
106FYN0.35544562
107IRAK40.34615707
108MAP3K90.34289823
109RPS6KB20.32930293
110LATS20.31714641
111CDK40.31323513
112SIK20.30725039
113MAP4K10.30693334
114PRKCD0.29537314
115CDK20.28716753
116DDR20.28708584
117NEK20.27600689
118TTN0.25684014
119EEF2K0.23988770
120LRRK20.23949809
121INSR0.23502286
122PRKAA10.23048658
123NEK10.23034694
124GSK3A0.21374157
125STK380.21220669
126MAPKAPK20.20829494
127IKBKB0.19398268
128PRKACG0.19220253
129PAK10.19163689
130CHUK0.18846787
131MAPK10.17681890
132JAK20.17288179
133PRKCH0.17143164
134CSNK1E0.16986707
135MAPK100.16315103
136PAK30.15219289
137MAPK40.14236271
138AURKB0.13305043
139PTK60.13303656
140PDK10.12650555
141FLT30.12042484
142AURKA0.12011428
143TAOK20.11364751
144MAPK140.11352426
145HCK0.11309566
146ATM0.10843821
147PRKD30.10598759
148GSK3B0.10231509
149MAP3K80.09157928
150SRC0.09129170
151PRKACB0.08043553
152CDK10.07883660

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006036.73547031
2Vitamin B6 metabolism_Homo sapiens_hsa007504.89566751
3Fructose and mannose metabolism_Homo sapiens_hsa000514.33908786
4Galactose metabolism_Homo sapiens_hsa000523.20316528
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.76824278
6Arachidonic acid metabolism_Homo sapiens_hsa005902.50131212
7Cyanoamino acid metabolism_Homo sapiens_hsa004602.41711056
8mTOR signaling pathway_Homo sapiens_hsa041502.14322996
9Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.04486837
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.99147761
11Linoleic acid metabolism_Homo sapiens_hsa005911.93084595
12Thyroid cancer_Homo sapiens_hsa052161.85442987
13Pentose and glucuronate interconversions_Homo sapiens_hsa000401.82513944
14Lysosome_Homo sapiens_hsa041421.80509761
15Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.76684269
16Phenylalanine metabolism_Homo sapiens_hsa003601.75157478
17Staphylococcus aureus infection_Homo sapiens_hsa051501.73007604
18Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.69995603
19Caffeine metabolism_Homo sapiens_hsa002321.51795514
20Osteoclast differentiation_Homo sapiens_hsa043801.47177891
21Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.44421791
22Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.36963789
23Histidine metabolism_Homo sapiens_hsa003401.36204313
24Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.34526839
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.31051601
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.26146909
27Complement and coagulation cascades_Homo sapiens_hsa046101.25519991
28Glycosaminoglycan degradation_Homo sapiens_hsa005311.24028575
29Acute myeloid leukemia_Homo sapiens_hsa052211.21286673
30Toll-like receptor signaling pathway_Homo sapiens_hsa046201.18815074
31Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.16713802
32Inositol phosphate metabolism_Homo sapiens_hsa005621.15432436
33Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.14055022
34Arginine biosynthesis_Homo sapiens_hsa002201.13720732
35Other glycan degradation_Homo sapiens_hsa005111.10550111
36Phospholipase D signaling pathway_Homo sapiens_hsa040721.08307043
37TNF signaling pathway_Homo sapiens_hsa046681.08295701
38Hepatitis C_Homo sapiens_hsa051601.07555193
39Sphingolipid metabolism_Homo sapiens_hsa006001.07134033
40Tyrosine metabolism_Homo sapiens_hsa003501.04568994
41Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.04098690
42Regulation of actin cytoskeleton_Homo sapiens_hsa048101.00308895
43Pertussis_Homo sapiens_hsa051330.99220921
44PPAR signaling pathway_Homo sapiens_hsa033200.96949518
45Endometrial cancer_Homo sapiens_hsa052130.96711658
46ABC transporters_Homo sapiens_hsa020100.96339442
47Thyroid hormone signaling pathway_Homo sapiens_hsa049190.96207590
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.95888524
49Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.90060545
50Allograft rejection_Homo sapiens_hsa053300.88839706
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.88457556
52Bladder cancer_Homo sapiens_hsa052190.86434474
53Choline metabolism in cancer_Homo sapiens_hsa052310.86250231
54VEGF signaling pathway_Homo sapiens_hsa043700.85472675
55Non-small cell lung cancer_Homo sapiens_hsa052230.83625050
56Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.83158249
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.83006726
58Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.81633583
59Tuberculosis_Homo sapiens_hsa051520.81443909
60Prion diseases_Homo sapiens_hsa050200.81297519
61RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.80905221
62Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.80586623
63RNA transport_Homo sapiens_hsa030130.79987375
64Autoimmune thyroid disease_Homo sapiens_hsa053200.77759763
65Ovarian steroidogenesis_Homo sapiens_hsa049130.77744018
66MicroRNAs in cancer_Homo sapiens_hsa052060.75781925
67Pathways in cancer_Homo sapiens_hsa052000.75281536
68Toxoplasmosis_Homo sapiens_hsa051450.74763884
69mRNA surveillance pathway_Homo sapiens_hsa030150.74757580
70Leukocyte transendothelial migration_Homo sapiens_hsa046700.72914087
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.72512562
72Pentose phosphate pathway_Homo sapiens_hsa000300.71786687
73Fatty acid degradation_Homo sapiens_hsa000710.71694428
74Drug metabolism - other enzymes_Homo sapiens_hsa009830.71620310
75Graft-versus-host disease_Homo sapiens_hsa053320.71553425
76Carbon metabolism_Homo sapiens_hsa012000.71552796
77Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.70929215
78Dilated cardiomyopathy_Homo sapiens_hsa054140.69796758
79Bile secretion_Homo sapiens_hsa049760.69539070
80Tryptophan metabolism_Homo sapiens_hsa003800.69048077
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69026738
82Proteoglycans in cancer_Homo sapiens_hsa052050.69001745
83Intestinal immune network for IgA production_Homo sapiens_hsa046720.68914083
84Basal cell carcinoma_Homo sapiens_hsa052170.68738543
85Amoebiasis_Homo sapiens_hsa051460.68709912
86Rap1 signaling pathway_Homo sapiens_hsa040150.68375828
87Protein digestion and absorption_Homo sapiens_hsa049740.67436287
88Prolactin signaling pathway_Homo sapiens_hsa049170.67096288
89Apoptosis_Homo sapiens_hsa042100.66793863
90AMPK signaling pathway_Homo sapiens_hsa041520.66476624
91Insulin resistance_Homo sapiens_hsa049310.66327478
92Notch signaling pathway_Homo sapiens_hsa043300.66043091
93Vitamin digestion and absorption_Homo sapiens_hsa049770.66040146
94Insulin signaling pathway_Homo sapiens_hsa049100.65712482
95Endocytosis_Homo sapiens_hsa041440.65224026
96ErbB signaling pathway_Homo sapiens_hsa040120.64969056
97Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.64311436
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.63755370
99Chronic myeloid leukemia_Homo sapiens_hsa052200.62831341
100Influenza A_Homo sapiens_hsa051640.62198315
101Chemokine signaling pathway_Homo sapiens_hsa040620.61545595
102Pancreatic cancer_Homo sapiens_hsa052120.60853760
103Vibrio cholerae infection_Homo sapiens_hsa051100.59824801
104Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58510968
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58172978
106Primary immunodeficiency_Homo sapiens_hsa053400.58054602
107Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.57653921
108Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.56786127
109T cell receptor signaling pathway_Homo sapiens_hsa046600.56021309
110Hedgehog signaling pathway_Homo sapiens_hsa043400.55896082
111Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55620961
112Lysine degradation_Homo sapiens_hsa003100.55389507
113Sulfur relay system_Homo sapiens_hsa041220.55379454
114GnRH signaling pathway_Homo sapiens_hsa049120.55331581
115Retinol metabolism_Homo sapiens_hsa008300.55058989
116Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54541875
117Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52517604
118Starch and sucrose metabolism_Homo sapiens_hsa005000.52306591
119Malaria_Homo sapiens_hsa051440.52243561
120Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.51632541
121Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.51242815
122Folate biosynthesis_Homo sapiens_hsa007900.51084022
123NOD-like receptor signaling pathway_Homo sapiens_hsa046210.50950006
124Steroid hormone biosynthesis_Homo sapiens_hsa001400.50107333
125Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.49621997
126Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48919424
127Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.48631477
128Adherens junction_Homo sapiens_hsa045200.48240765
129Glycerolipid metabolism_Homo sapiens_hsa005610.48159971
130Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.47956595
131Hippo signaling pathway_Homo sapiens_hsa043900.47678843
132Salmonella infection_Homo sapiens_hsa051320.47652589
133Biosynthesis of amino acids_Homo sapiens_hsa012300.47485760
134Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.47187688
135Shigellosis_Homo sapiens_hsa051310.47160972
136AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.47100599
137Adipocytokine signaling pathway_Homo sapiens_hsa049200.45681505
138Sphingolipid signaling pathway_Homo sapiens_hsa040710.45597892
139Cell cycle_Homo sapiens_hsa041100.44695900
140Chemical carcinogenesis_Homo sapiens_hsa052040.44480127
141One carbon pool by folate_Homo sapiens_hsa006700.43291742
142B cell receptor signaling pathway_Homo sapiens_hsa046620.42105459
143p53 signaling pathway_Homo sapiens_hsa041150.41841813
144Glycerophospholipid metabolism_Homo sapiens_hsa005640.39529315
145Herpes simplex infection_Homo sapiens_hsa051680.39354869
146HTLV-I infection_Homo sapiens_hsa051660.37281700
147African trypanosomiasis_Homo sapiens_hsa051430.37238813
148Neurotrophin signaling pathway_Homo sapiens_hsa047220.33737281
149Small cell lung cancer_Homo sapiens_hsa052220.33598670
150Leishmaniasis_Homo sapiens_hsa051400.33341987
151RNA degradation_Homo sapiens_hsa030180.33270315
152Tight junction_Homo sapiens_hsa045300.33246199
153Colorectal cancer_Homo sapiens_hsa052100.32463573
154Renin-angiotensin system_Homo sapiens_hsa046140.32244342
155Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.31553688
156Selenocompound metabolism_Homo sapiens_hsa004500.30161559
157Ether lipid metabolism_Homo sapiens_hsa005650.29881159
158Legionellosis_Homo sapiens_hsa051340.29091586
159HIF-1 signaling pathway_Homo sapiens_hsa040660.28861406
160NF-kappa B signaling pathway_Homo sapiens_hsa040640.28856953

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