MPZ

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 is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vitamin A metabolic process (GO:0006776)8.36816790
2myelination in peripheral nervous system (GO:0022011)8.12148004
3peripheral nervous system axon ensheathment (GO:0032292)8.12148004
4ensheathment of neurons (GO:0007272)7.15639057
5axon ensheathment (GO:0008366)7.15639057
6peptidyl-tyrosine autophosphorylation (GO:0038083)7.12755894
7myelin assembly (GO:0032288)6.28611467
8peripheral nervous system development (GO:0007422)6.00467041
9neurofilament cytoskeleton organization (GO:0060052)5.50382252
10hemidesmosome assembly (GO:0031581)5.42013965
11proline transport (GO:0015824)5.40459489
12myelination (GO:0042552)5.36449180
13regulation of pigment cell differentiation (GO:0050932)5.34125064
14positive regulation of neurological system process (GO:0031646)5.26504704
15regulation of apoptotic cell clearance (GO:2000425)5.16230895
16Leydig cell differentiation (GO:0033327)5.06285741
17regulation of complement activation (GO:0030449)4.84550566
18regulation of protein activation cascade (GO:2000257)4.84004728
19plasma lipoprotein particle assembly (GO:0034377)4.77333335
20male sex determination (GO:0030238)4.77268039
21cell adhesion mediated by integrin (GO:0033627)4.73598961
22cytoskeletal anchoring at plasma membrane (GO:0007016)4.72514500
23low-density lipoprotein particle remodeling (GO:0034374)4.65003728
24myelin maintenance (GO:0043217)4.60020963
25negative regulation of fibrinolysis (GO:0051918)4.59748143
26detection of molecule of bacterial origin (GO:0032490)4.51419375
27protein-lipid complex assembly (GO:0065005)4.48230992
28positive regulation of developmental pigmentation (GO:0048087)4.42795055
29basement membrane organization (GO:0071711)4.41965133
30protein-chromophore linkage (GO:0018298)4.38784277
31detection of temperature stimulus (GO:0016048)4.31931015
32complement activation, alternative pathway (GO:0006957)4.21135177
33regulation of cholesterol esterification (GO:0010872)4.18464591
34alanine transport (GO:0032328)4.17559277
35very-low-density lipoprotein particle assembly (GO:0034379)4.06226173
36calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.87727141
37regulation of fibrinolysis (GO:0051917)3.71568639
38glycine transport (GO:0015816)3.65807905
39protein carboxylation (GO:0018214)3.60469027
40peptidyl-glutamic acid carboxylation (GO:0017187)3.60469027
41protein-lipid complex remodeling (GO:0034368)3.60353564
42macromolecular complex remodeling (GO:0034367)3.60353564
43plasma lipoprotein particle remodeling (GO:0034369)3.60353564
44cholesterol efflux (GO:0033344)3.57068806
45plasma lipoprotein particle clearance (GO:0034381)3.55783654
46cell migration in hindbrain (GO:0021535)3.52079723
47modulation by symbiont of host immune response (GO:0052553)3.48743963
48positive regulation by symbiont of host defense response (GO:0052509)3.48743963
49modulation by symbiont of host defense response (GO:0052031)3.48743963
50modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.48743963
51modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.48743963
52positive regulation by organism of defense response of other organism involved in symbiotic interact3.48743963
53plasma lipoprotein particle organization (GO:0071827)3.47830125
54low-density lipoprotein particle clearance (GO:0034383)3.46915284
55regulation of lipoprotein metabolic process (GO:0050746)3.45599757
56positive regulation of cellular amide metabolic process (GO:0034250)3.45382935
57collagen fibril organization (GO:0030199)3.44496815
58triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.41514555
59melanin biosynthetic process (GO:0042438)3.41019892
60protein-lipid complex subunit organization (GO:0071825)3.39804799
61extracellular fibril organization (GO:0043206)3.38470613
62cranial nerve structural organization (GO:0021604)3.37905499
63detection of external biotic stimulus (GO:0098581)3.37071827
64positive regulation of gamma-delta T cell activation (GO:0046645)3.36604935
65regulation of sodium ion transmembrane transporter activity (GO:2000649)3.35958144
66layer formation in cerebral cortex (GO:0021819)3.34984941
67regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.34553649
68tyrosine metabolic process (GO:0006570)3.28978003
69positive regulation of lipoprotein lipase activity (GO:0051006)3.27788143
70positive regulation of triglyceride lipase activity (GO:0061365)3.27788143
71melanin metabolic process (GO:0006582)3.25238052
72leukocyte migration involved in inflammatory response (GO:0002523)3.24809014
73positive regulation of Rho protein signal transduction (GO:0035025)3.22874644
74phospholipid efflux (GO:0033700)3.22394029
75plasma membrane repair (GO:0001778)3.20917534
76collagen catabolic process (GO:0030574)3.20734901
77skin development (GO:0043588)3.20689831
78regulation of myelination (GO:0031641)3.19719366
79negative regulation of protein activation cascade (GO:2000258)3.19535354
80regulation of humoral immune response (GO:0002920)3.17600154
81hyaluronan metabolic process (GO:0030212)3.16666402
82glial cell proliferation (GO:0014009)3.16335455
83neuronal action potential (GO:0019228)3.15413219
84blood coagulation, intrinsic pathway (GO:0007597)3.14891386
85negative regulation of cholesterol transport (GO:0032375)3.14484019
86negative regulation of sterol transport (GO:0032372)3.14484019
87regulation of somitogenesis (GO:0014807)3.12417803
88neuronal ion channel clustering (GO:0045161)3.10944782
89negative regulation of erythrocyte differentiation (GO:0045647)3.09966500
90collagen metabolic process (GO:0032963)3.09330741
91peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.07828286
92pinocytosis (GO:0006907)3.04355938
93negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.03762261
94detection of biotic stimulus (GO:0009595)3.03365572
95acute-phase response (GO:0006953)3.02385034
96regulation of plasminogen activation (GO:0010755)3.00408794
97complement activation, classical pathway (GO:0006958)2.99031080
98positive regulation of extracellular matrix organization (GO:1903055)2.98720539
99enteric nervous system development (GO:0048484)2.97915672
100axon cargo transport (GO:0008088)2.96870098
101multicellular organismal macromolecule metabolic process (GO:0044259)2.95013976
102extracellular matrix disassembly (GO:0022617)2.94877554
103negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.94843138
104positive regulation of phagocytosis (GO:0050766)2.93605882
105diacylglycerol metabolic process (GO:0046339)2.93117777
106multicellular organismal catabolic process (GO:0044243)2.92543631
107negative regulation of potassium ion transmembrane transport (GO:1901380)2.91616405
108detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.91402163
109detection of temperature stimulus involved in sensory perception (GO:0050961)2.91402163
110regulation of cholesterol homeostasis (GO:2000188)2.90010524
111behavioral response to pain (GO:0048266)2.88360605
112regulation of cholesterol biosynthetic process (GO:0045540)2.88232974
113detection of other organism (GO:0098543)2.87932789
114protein activation cascade (GO:0072376)2.86010357
115high-density lipoprotein particle remodeling (GO:0034375)2.85853025
116response to mercury ion (GO:0046689)2.83959229
117negative regulation of axonogenesis (GO:0050771)2.82793891
118mannose metabolic process (GO:0006013)2.82553349
119protein heterotrimerization (GO:0070208)2.82252685
120complement activation (GO:0006956)2.82028639
121semaphorin-plexin signaling pathway (GO:0071526)2.80872732
122regulation of sodium ion transmembrane transport (GO:1902305)2.80465567
123protein targeting to plasma membrane (GO:0072661)2.79781147
124actin filament depolymerization (GO:0030042)2.79187057
125intestinal cholesterol absorption (GO:0030299)2.78848512
126antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.78290976
127cellular extravasation (GO:0045123)2.77780504
128negative regulation of complement activation (GO:0045916)2.76923099
129multicellular organismal metabolic process (GO:0044236)2.76788683
130negative regulation of adherens junction organization (GO:1903392)2.76628496
131negative regulation of focal adhesion assembly (GO:0051895)2.76628496
132negative regulation of cell junction assembly (GO:1901889)2.76628496
133negative regulation of axon extension (GO:0030517)2.76625982
134positive regulation of fatty acid biosynthetic process (GO:0045723)2.75799889
135cellular hyperosmotic response (GO:0071474)2.75216646
136cell-substrate junction assembly (GO:0007044)2.74812047
137anatomical structure arrangement (GO:0048532)2.74287390
138sodium ion export (GO:0071436)2.73170150
139positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.72893740
140fibril organization (GO:0097435)2.70262233
141renal system development (GO:0072001)2.70159347
142* cell-cell junction maintenance (GO:0045217)2.69944644
143endodermal cell differentiation (GO:0035987)2.69309424
144modified amino acid transport (GO:0072337)2.69265205
145membrane depolarization during action potential (GO:0086010)2.69095115
146L-phenylalanine catabolic process (GO:0006559)2.69024160
147erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.69024160
148secondary metabolite biosynthetic process (GO:0044550)2.68996354
149negative regulation of myeloid cell apoptotic process (GO:0033033)2.67841062
150response to peptidoglycan (GO:0032494)2.67345708
151negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.66906619
152neuron projection regeneration (GO:0031102)2.66830580
153fatty acid elongation (GO:0030497)2.66665410
154regulation of gamma-delta T cell activation (GO:0046643)2.65089106
155cortical actin cytoskeleton organization (GO:0030866)2.64638735
156regulation of response to osmotic stress (GO:0047484)2.64382509
157detection of bacterium (GO:0016045)2.64280420
158cellular potassium ion homeostasis (GO:0030007)2.63717614
159detection of light stimulus involved in sensory perception (GO:0050962)2.63556101
160detection of light stimulus involved in visual perception (GO:0050908)2.63556101
161cholesterol biosynthetic process (GO:0006695)2.61707990
162synaptic vesicle maturation (GO:0016188)2.61551727
163retinal metabolic process (GO:0042574)2.59107643
164regulation of cholesterol storage (GO:0010885)2.58821404
165macrophage activation involved in immune response (GO:0002281)2.58458678
166growth hormone receptor signaling pathway (GO:0060396)2.57593149
167response to muramyl dipeptide (GO:0032495)2.57400906
168actin filament capping (GO:0051693)2.57287573
169cell-matrix adhesion (GO:0007160)2.55552459
170regulation of cytokine production involved in inflammatory response (GO:1900015)2.54900265
171reverse cholesterol transport (GO:0043691)2.51929673
172positive regulation of nitric-oxide synthase activity (GO:0051000)2.49980817
173cellular response to electrical stimulus (GO:0071257)2.48429574
174regulation of phagocytosis (GO:0050764)2.48061760
175axon development (GO:0061564)2.47158686
176regulation of extracellular matrix organization (GO:1903053)2.46955895
177regulation of voltage-gated calcium channel activity (GO:1901385)2.46853149
178cell communication involved in cardiac conduction (GO:0086065)2.46499980
179regulation of extracellular matrix disassembly (GO:0010715)2.45988902
180nerve growth factor signaling pathway (GO:0038180)2.44352363
181positive regulation of Ras protein signal transduction (GO:0046579)2.43733161
182intermediate filament organization (GO:0045109)2.43426214
183regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.43202790
184response to pain (GO:0048265)2.40022236
185regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.40013006
186regulation of axon extension (GO:0030516)2.39162700
187negative regulation of actin filament depolymerization (GO:0030835)2.39011512
188regulation of axonogenesis (GO:0050770)2.36605490
189positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.36022760
190regulation of early endosome to late endosome transport (GO:2000641)2.35840789
191regulation of neuron migration (GO:2001222)2.35376351
192regulation of developmental pigmentation (GO:0048070)2.34185028
193positive regulation of small GTPase mediated signal transduction (GO:0051057)2.34064478
194sterol biosynthetic process (GO:0016126)2.32752695
195regulation of neurological system process (GO:0031644)2.31409667
196anatomical structure maturation (GO:0071695)2.31362721
197negative regulation of catenin import into nucleus (GO:0035414)2.30435703
198neuronal action potential propagation (GO:0019227)12.7820656

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF263_19887448_ChIP-Seq_K562_Human4.97542705
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.10246563
3THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.47279527
4NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.85718632
5TP63_17297297_ChIP-ChIP_HaCaT_Human2.79484262
6CDX2_19796622_ChIP-Seq_MESCs_Mouse2.77627506
7LXR_22292898_ChIP-Seq_THP-1_Human2.70894714
8TRIM28_21343339_ChIP-Seq_HEK293_Human2.68618285
9STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.66457836
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.58189694
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.57342324
12RXR_22158963_ChIP-Seq_LIVER_Mouse2.54828162
13VDR_21846776_ChIP-Seq_THP-1_Human2.48342193
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.38466170
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.32961915
16BP1_19119308_ChIP-ChIP_Hs578T_Human2.28606936
17ESR2_21235772_ChIP-Seq_MCF-7_Human2.25451085
18PPARA_22158963_ChIP-Seq_LIVER_Mouse2.25419007
19PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.23362457
20EGR1_19374776_ChIP-ChIP_THP-1_Human2.10832156
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.04333814
22TCF7_22412390_ChIP-Seq_EML_Mouse2.01537581
23MTF2_20144788_ChIP-Seq_MESCs_Mouse2.01503839
24* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.00260044
25MYC_22102868_ChIP-Seq_BL_Human1.99162273
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98443720
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.97840953
28RNF2_18974828_ChIP-Seq_MESCs_Mouse1.97840953
29KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.94708233
30SPI1_23127762_ChIP-Seq_K562_Human1.92595297
31* LXR_22158963_ChIP-Seq_LIVER_Mouse1.88346471
32ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.87700606
33IRF8_22096565_ChIP-ChIP_GC-B_Human1.86096340
34* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.85694055
35FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.85586339
36SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.80933698
37SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.78997700
38VDR_24763502_ChIP-Seq_THP-1_Human1.78576378
39MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.68589814
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.68297004
41GATA1_19941827_ChIP-Seq_MEL_Mouse1.67739149
42AR_21572438_ChIP-Seq_LNCaP_Human1.66552576
43AHR_22903824_ChIP-Seq_MCF-7_Human1.66231398
44NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.64808901
45DROSHA_22980978_ChIP-Seq_HELA_Human1.64714158
46E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.64041626
47FOXA2_19822575_ChIP-Seq_HepG2_Human1.63161239
48* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.62627229
49SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.60808412
50TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.59836830
51RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.58610321
52KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.56941373
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.55146392
54KDM2B_26808549_Chip-Seq_K562_Human1.54579280
55EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.53533389
56MAF_26560356_Chip-Seq_TH1_Human1.53266315
57TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.53187917
58JARID2_20064375_ChIP-Seq_MESCs_Mouse1.52587807
59BRD4_27068464_Chip-Seq_AML-cells_Mouse1.52053632
60ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49931765
61NFIB_24661679_ChIP-Seq_LUNG_Mouse1.49610098
62SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.48614446
63JARID2_20075857_ChIP-Seq_MESCs_Mouse1.47718051
64EP300_21415370_ChIP-Seq_HL-1_Mouse1.46342205
65NCOR1_26117541_ChIP-Seq_K562_Human1.45380379
66GATA2_21666600_ChIP-Seq_HMVEC_Human1.45209475
67EZH2_27294783_Chip-Seq_ESCs_Mouse1.44905772
68MYB_21317192_ChIP-Seq_ERMYB_Mouse1.43710768
69RACK7_27058665_Chip-Seq_MCF-7_Human1.41744580
70GBX2_23144817_ChIP-Seq_PC3_Human1.41421792
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.39644331
72CLOCK_20551151_ChIP-Seq_293T_Human1.39474374
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.38794426
74SMC4_20622854_ChIP-Seq_HELA_Human1.38777249
75WT1_25993318_ChIP-Seq_PODOCYTE_Human1.37954940
76WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.37502426
77IRF8_27001747_Chip-Seq_BMDM_Mouse1.37276770
78SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35651916
79EED_16625203_ChIP-ChIP_MESCs_Mouse1.35266162
80TP53_16413492_ChIP-PET_HCT116_Human1.35139479
81EZH2_27304074_Chip-Seq_ESCs_Mouse1.34848269
82UTX_26944678_Chip-Seq_JUKART_Human1.32451548
83KDM2B_26808549_Chip-Seq_DND41_Human1.32400256
84ELF1_20517297_ChIP-Seq_JURKAT_Human1.31977050
85SCL_19346495_ChIP-Seq_HPC-7_Human1.31625063
86GATA1_19941826_ChIP-Seq_K562_Human1.31378206
87OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30787898
88* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.30692416
89ELK3_25401928_ChIP-Seq_HUVEC_Human1.30435175
90MAF_26560356_Chip-Seq_TH2_Human1.30219466
91DNAJC2_21179169_ChIP-ChIP_NT2_Human1.29908561
92RUNX1_22412390_ChIP-Seq_EML_Mouse1.28895676
93RUNX_20019798_ChIP-Seq_JUKART_Human1.28418987
94PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.27821378
95ESR1_20079471_ChIP-ChIP_T-47D_Human1.27555803
96ZFP281_18757296_ChIP-ChIP_E14_Mouse1.26632224
97CTCF_27219007_Chip-Seq_ERYTHROID_Human1.26341894
98BCOR_27268052_Chip-Seq_Bcells_Human1.25703499
99EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25351861
100GATA1_22383799_ChIP-Seq_G1ME_Mouse1.24916624
101RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.24589573
102P68_20966046_ChIP-Seq_HELA_Human1.24270363
103P300_27058665_Chip-Seq_ZR-75-30cells_Human1.24144474
104PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22633776
105SA1_27219007_Chip-Seq_ERYTHROID_Human1.22539085
106TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22007527
107SUZ12_27294783_Chip-Seq_ESCs_Mouse1.21556463
108SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21153120
109KDM2B_26808549_Chip-Seq_SUP-B15_Human1.20920971
110RNF2_27304074_Chip-Seq_ESCs_Mouse1.20850736
111ZNF217_24962896_ChIP-Seq_MCF-7_Human1.19314116
112RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18890713
113NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.18737375
114ARNT_22903824_ChIP-Seq_MCF-7_Human1.18440841
115CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.18235264
116EZH2_22144423_ChIP-Seq_EOC_Human1.17856155
117CTNNB1_20460455_ChIP-Seq_HCT116_Human1.17427383
118SMAD4_21799915_ChIP-Seq_A2780_Human1.14297437
119WT1_19549856_ChIP-ChIP_CCG9911_Human1.14111225
120CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.12984562
121MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.12674265
122GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.12304957
123BCL6_27268052_Chip-Seq_Bcells_Human1.11705340
124SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.11199085
125STAT4_19710469_ChIP-ChIP_TH1__Mouse1.11133824
126ESR1_21235772_ChIP-Seq_MCF-7_Human1.11078196
127SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.11049327
128RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.10111151
129* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09402293
130SA1_27219007_Chip-Seq_Bcells_Human1.09150537
131KDM2B_26808549_Chip-Seq_JURKAT_Human1.08887572
132* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08366647
133CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.06705849
134FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.05522409
135PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.05462929
136TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.04701399
137PPAR_26484153_Chip-Seq_NCI-H1993_Human1.04527526
138STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.04038990
139NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03648688
140HNF4A_19822575_ChIP-Seq_HepG2_Human1.03555318
141CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.03482585
142LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.03146647
143OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02862343
144CJUN_26792858_Chip-Seq_BT549_Human1.02658650
145* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02029916
146EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.01488770
147GATA2_22383799_ChIP-Seq_G1ME_Mouse1.00969538
148AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.00907840
149STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.00803779
150AR_19668381_ChIP-Seq_PC3_Human1.00376557
151SOX2_21211035_ChIP-Seq_LN229_Gbm0.99965041
152GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.98483703
153SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98355035
154VDR_24787735_ChIP-Seq_THP-1_Human0.97967084
155* MITF_21258399_ChIP-Seq_MELANOMA_Human0.97528760
156TBX20_22328084_ChIP-Seq_HEART_Mouse0.97247899
157TBX20_22080862_ChIP-Seq_HEART_Mouse0.97247899
158SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97016387
159MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.96856714
160SPI1_23547873_ChIP-Seq_NB4_Human0.96786323
161SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96392176
162GATA1_22025678_ChIP-Seq_K562_Human0.93993440
163STAT3_23295773_ChIP-Seq_U87_Human0.93662657
164SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.93248461
165TET1_21490601_ChIP-Seq_MESCs_Mouse0.93136229
166TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92652662
167SOX9_24532713_ChIP-Seq_HFSC_Mouse0.92339513
168GATA2_19941826_ChIP-Seq_K562_Human0.92158910
169ETV2_25802403_ChIP-Seq_MESCs_Mouse0.90680095
170UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90606540
171TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89869695
172ZFP281_27345836_Chip-Seq_ESCs_Mouse0.89702365
173YY1_22570637_ChIP-Seq_MALME-3M_Human0.89196461
174SMAD4_21741376_ChIP-Seq_HESCs_Human0.88508739
175ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88145086
176* SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.87558754
177YAP1_20516196_ChIP-Seq_MESCs_Mouse0.87019564
178NRF2_20460467_ChIP-Seq_MEFs_Mouse0.84875399

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation8.86912321
2MP0001968_abnormal_touch/_nociception5.85253528
3MP0004272_abnormal_basement_membrane5.48235739
4MP0008260_abnormal_autophagy4.71248774
5MP0008438_abnormal_cutaneous_collagen4.29651113
6* MP0000920_abnormal_myelination4.20658873
7MP0003136_yellow_coat_color3.97018056
8MP0003045_fibrosis3.60941459
9MP0004858_abnormal_nervous_system3.52071729
10MP0000751_myopathy3.37817147
11MP0000749_muscle_degeneration3.25669345
12MP0000747_muscle_weakness3.20275249
13MP0002734_abnormal_mechanical_nocicepti3.13271242
14MP0005623_abnormal_meninges_morphology2.90927249
15MP0002733_abnormal_thermal_nociception2.83003571
16MP0005058_abnormal_lysosome_morphology2.80432714
17MP0002736_abnormal_nociception_after2.78609603
18MP0005275_abnormal_skin_tensile2.77107724
19* MP0003634_abnormal_glial_cell2.72117230
20MP0005451_abnormal_body_composition2.61248874
21MP0003172_abnormal_lysosome_physiology2.44417586
22MP0002735_abnormal_chemical_nociception2.42768330
23MP0004270_analgesia2.39149114
24MP0002139_abnormal_hepatobiliary_system2.33294939
25MP0003436_decreased_susceptibility_to2.28595851
26MP0003315_abnormal_perineum_morphology2.24499734
27MP0003724_increased_susceptibility_to2.13829824
28MP0000013_abnormal_adipose_tissue2.11010097
29* MP0002272_abnormal_nervous_system2.05132399
30MP0004145_abnormal_muscle_electrophysio2.04974441
31MP0004019_abnormal_vitamin_homeostasis1.94484797
32MP0003122_maternal_imprinting1.94439757
33MP0009840_abnormal_foam_cell1.90451327
34MP0001661_extended_life_span1.90001637
35MP0004381_abnormal_hair_follicle1.89511484
36MP0001970_abnormal_pain_threshold1.88639881
37MP0003632_abnormal_nervous_system1.87369544
38MP0001324_abnormal_eye_pigmentation1.83315422
39MP0003329_amyloid_beta_deposits1.80813967
40MP0002132_abnormal_respiratory_system1.80069437
41MP0008569_lethality_at_weaning1.75560016
42MP0005503_abnormal_tendon_morphology1.72599875
43* MP0002067_abnormal_sensory_capabilities1.72366339
44MP0005167_abnormal_blood-brain_barrier1.70837376
45MP0005464_abnormal_platelet_physiology1.61905677
46MP0005365_abnormal_bile_salt1.58816114
47MP0000371_diluted_coat_color1.55760592
48* MP0002419_abnormal_innate_immunity1.51399084
49MP0002075_abnormal_coat/hair_pigmentati1.49776766
50MP0000750_abnormal_muscle_regeneration1.49479521
51MP0000372_irregular_coat_pigmentation1.47005436
52MP0002168_other_aberrant_phenotype1.43250991
53MP0009278_abnormal_bone_marrow1.43234997
54MP0002938_white_spotting1.41477410
55MP0005171_absent_coat_pigmentation1.40651146
56MP0010329_abnormal_lipoprotein_level1.38419654
57MP0003191_abnormal_cellular_cholesterol1.37156879
58MP0004859_abnormal_synaptic_plasticity1.36696932
59MP0005670_abnormal_white_adipose1.36319605
60MP0000604_amyloidosis1.35164059
61MP0005253_abnormal_eye_physiology1.29165772
62MP0005025_abnormal_response_to1.27753233
63MP0001186_pigmentation_phenotype1.25390443
64MP0009046_muscle_twitch1.25302432
65MP0001915_intracranial_hemorrhage1.24774649
66MP0002933_joint_inflammation1.23590064
67MP0002108_abnormal_muscle_morphology1.23060281
68MP0000685_abnormal_immune_system1.18427981
69MP0003123_paternal_imprinting1.17568172
70MP0005360_urolithiasis1.17300914
71* MP0003631_nervous_system_phenotype1.16637974
72MP0001533_abnormal_skeleton_physiology1.13296032
73MP0002269_muscular_atrophy1.09666393
74MP0003075_altered_response_to1.09565411
75MP0002998_abnormal_bone_remodeling1.07779602
76MP0004811_abnormal_neuron_physiology1.07320894
77MP0010771_integument_phenotype1.07151835
78MP0001790_abnormal_immune_system1.06898401
79MP0005387_immune_system_phenotype1.06898401
80MP0003950_abnormal_plasma_membrane1.06449289
81MP0000609_abnormal_liver_physiology1.06180308
82MP0009115_abnormal_fat_cell1.03954418
83MP0005075_abnormal_melanosome_morpholog1.03924023
84MP0002751_abnormal_autonomic_nervous1.02172805
85MP0001348_abnormal_lacrimal_gland1.01323505
86MP0001299_abnormal_eye_distance/1.00008077
87MP0002089_abnormal_postnatal_growth/wei0.99693693
88MP0001958_emphysema0.99141103
89MP0009785_altered_susceptibility_to0.96533019
90MP0005000_abnormal_immune_tolerance0.95356818
91MP0005083_abnormal_biliary_tract0.94036225
92MP0005410_abnormal_fertilization0.94003075
93MP0003828_pulmonary_edema0.93987499
94MP0006276_abnormal_autonomic_nervous0.93823138
95MP0000778_abnormal_nervous_system0.90819674
96MP0001986_abnormal_taste_sensitivity0.90358728
97MP0005076_abnormal_cell_differentiation0.89686095
98MP0001800_abnormal_humoral_immune0.89089444
99MP0003635_abnormal_synaptic_transmissio0.87892895
100MP0005408_hypopigmentation0.87327919
101MP0003656_abnormal_erythrocyte_physiolo0.86805662
102MP0004130_abnormal_muscle_cell0.86291931
103MP0003195_calcinosis0.85763955
104* MP0002723_abnormal_immune_serum0.83600900
105MP0002118_abnormal_lipid_homeostasis0.83454391
106MP0005377_hearing/vestibular/ear_phenot0.83163391
107MP0003878_abnormal_ear_physiology0.83163391
108MP0002396_abnormal_hematopoietic_system0.81916785
109MP0005085_abnormal_gallbladder_physiolo0.80683278
110MP0008469_abnormal_protein_level0.80609698
111MP0005257_abnormal_intraocular_pressure0.80228589
112MP0000462_abnormal_digestive_system0.79963119
113MP0000015_abnormal_ear_pigmentation0.78483766
114MP0005666_abnormal_adipose_tissue0.78463448
115MP0002064_seizures0.78455739
116MP0002971_abnormal_brown_adipose0.78252560
117MP0003279_aneurysm0.77726645
118MP0005164_abnormal_response_to0.77554912
119MP0005409_darkened_coat_color0.77184791
120MP0002405_respiratory_system_inflammati0.76241529
121MP0002877_abnormal_melanocyte_morpholog0.74915243
122MP0004087_abnormal_muscle_fiber0.72534497
123MP0004883_abnormal_blood_vessel0.72192107
124MP0002184_abnormal_innervation0.71952527
125MP0000955_abnormal_spinal_cord0.71942154
126MP0000858_altered_metastatic_potential0.71830583
127* MP0002452_abnormal_antigen_presenting0.71557390
128MP0002106_abnormal_muscle_physiology0.71503570
129* MP0002420_abnormal_adaptive_immunity0.71221072
130MP0009333_abnormal_splenocyte_physiolog0.71218548
131MP0001835_abnormal_antigen_presentation0.70990088
132MP0000569_abnormal_digit_pigmentation0.70473321
133* MP0001819_abnormal_immune_cell0.69568009
134MP0003705_abnormal_hypodermis_morpholog0.69448163
135* MP0003633_abnormal_nervous_system0.68681091
136MP0005397_hematopoietic_system_phenotyp0.68314224
137MP0001545_abnormal_hematopoietic_system0.68314224
138MP0005551_abnormal_eye_electrophysiolog0.67134993
139MP0009384_cardiac_valve_regurgitation0.66533285
140MP0010234_abnormal_vibrissa_follicle0.66294235
141MP0004947_skin_inflammation0.65028120
142MP0005423_abnormal_somatic_nervous0.64725927
143MP0005391_vision/eye_phenotype0.64607637
144MP0003690_abnormal_glial_cell0.64528150
145MP0002837_dystrophic_cardiac_calcinosis0.64119777
146MP0004233_abnormal_muscle_weight0.63871832
147MP0001270_distended_abdomen0.63194107
148* MP0002229_neurodegeneration0.62895941
149* MP0002882_abnormal_neuron_morphology0.62862219
150* MP0002066_abnormal_motor_capabilities/c0.62238769
151MP0001845_abnormal_inflammatory_respons0.62211798
152MP0000678_abnormal_parathyroid_gland0.61431415
153MP0003303_peritoneal_inflammation0.60854384
154MP0005369_muscle_phenotype0.60590322
155MP0000534_abnormal_ureter_morphology0.60354649
156MP0002557_abnormal_social/conspecific_i0.58082953
157MP0000003_abnormal_adipose_tissue0.53452289
158MP0002060_abnormal_skin_morphology0.52619742
159MP0005330_cardiomyopathy0.51207119
160MP0004134_abnormal_chest_morphology0.48491955
161MP0003566_abnormal_cell_adhesion0.46565277
162MP0000759_abnormal_skeletal_muscle0.44607595
163MP0003283_abnormal_digestive_organ0.44533395
164MP0009780_abnormal_chondrocyte_physiolo0.44366342
165MP0005187_abnormal_penis_morphology0.43884051
166MP0003300_gastrointestinal_ulcer0.43546848
167MP0003091_abnormal_cell_migration0.42684322
168MP0002752_abnormal_somatic_nervous0.42356911
169MP0008770_decreased_survivor_rate0.42110251
170MP0001943_abnormal_respiration0.40091795
171MP0005248_abnormal_Harderian_gland0.39254485
172MP0000733_abnormal_muscle_development0.38890852
173MP0002063_abnormal_learning/memory/cond0.38806095
174MP0001849_ear_inflammation0.37768394
175MP0005508_abnormal_skeleton_morphology0.36923011
176MP0004885_abnormal_endolymph0.35790389

Predicted human phenotypes

RankGene SetZ-score
1* Termporal pattern (HP:0011008)8.58077866
2* Insidious onset (HP:0003587)8.58077866
3Abnormality of the vocal cords (HP:0008777)7.64117454
4Decreased number of large peripheral myelinated nerve fibers (HP:0003387)7.38536714
5* Increased CSF protein (HP:0002922)7.36097369
6* Action tremor (HP:0002345)6.57341110
7* Onion bulb formation (HP:0003383)6.55192636
8* Steppage gait (HP:0003376)6.21984150
9Deep venous thrombosis (HP:0002625)5.93775877
10* Decreased number of peripheral myelinated nerve fibers (HP:0003380)5.91033699
11* Hammertoe (HP:0001765)5.71359036
12* Foot dorsiflexor weakness (HP:0009027)5.30929185
13* Peripheral demyelination (HP:0011096)5.10915372
14* Abnormality of the foot musculature (HP:0001436)4.89643817
15* Decreased motor nerve conduction velocity (HP:0003431)4.89432310
16Complement deficiency (HP:0004431)4.85164572
17Systemic lupus erythematosus (HP:0002725)4.82285263
18Glomerulonephritis (HP:0000099)4.38378444
19Abnormality of complement system (HP:0005339)4.19768644
20White forelock (HP:0002211)4.12931767
21Decreased electroretinogram (ERG) amplitude (HP:0000654)4.05125378
22* Postural tremor (HP:0002174)3.71061503
23Hemorrhage of the eye (HP:0011885)3.46410948
24Choroideremia (HP:0001139)3.45603252
25Joint hemorrhage (HP:0005261)3.45485658
26Hypopigmentation of the fundus (HP:0007894)3.42663865
27Patchy hypopigmentation of hair (HP:0011365)3.37027318
28Epiphyseal dysplasia (HP:0002656)3.31844934
29Hypomagnesemia (HP:0002917)3.26417419
30Orchitis (HP:0100796)3.22718291
31Atrophic scars (HP:0001075)3.19451367
32Recurrent gram-negative bacterial infections (HP:0005420)3.18134853
33Abnormality of calcium-phosphate metabolism (HP:0100530)3.09099083
34* Distal sensory impairment (HP:0002936)3.06164762
35Abnormality of the common coagulation pathway (HP:0010990)3.05260645
36Amyloidosis (HP:0011034)3.04566390
37Abnormal sex determination (HP:0012244)3.03530379
38Sex reversal (HP:0012245)3.03530379
39Blue irides (HP:0000635)3.01104431
40Myositis (HP:0100614)2.97765241
41Absent epiphyses (HP:0010577)2.97187398
42Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.97187398
43Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.96573526
44Purpura (HP:0000979)2.95892678
45Vertebral compression fractures (HP:0002953)2.95851419
46Retrobulbar optic neuritis (HP:0100654)2.95816823
47Optic neuritis (HP:0100653)2.95816823
48Prolonged partial thromboplastin time (HP:0003645)2.85963597
49Abnormality of magnesium homeostasis (HP:0004921)2.77245103
50Alacrima (HP:0000522)2.71784506
51Xanthomatosis (HP:0000991)2.67246451
52Eczematoid dermatitis (HP:0000976)2.63702828
53Fragile skin (HP:0001030)2.61168524
54Hypercholesterolemia (HP:0003124)2.53252272
55Polycythemia (HP:0001901)2.52866797
56Hypoplasia of the uterus (HP:0000013)2.49306540
57Flat acetabular roof (HP:0003180)2.47477507
58Abnormality of macrophages (HP:0004311)2.45837432
59Heterochromia iridis (HP:0001100)2.43250674
60Small epiphyses (HP:0010585)2.40603476
61Chronic obstructive pulmonary disease (HP:0006510)2.37407098
62Obstructive lung disease (HP:0006536)2.37407098
63Gingival bleeding (HP:0000225)2.35194566
64Difficulty walking (HP:0002355)2.34578699
65Decreased central vision (HP:0007663)2.33611113
66Premature rupture of membranes (HP:0001788)2.33419674
67Abnormal auditory evoked potentials (HP:0006958)2.32858614
68Hypobetalipoproteinemia (HP:0003563)2.29944657
69Supernumerary ribs (HP:0005815)2.28930587
70Nephritis (HP:0000123)2.25932202
71Abnormality of the peritoneum (HP:0002585)2.25585552
72* Kyphoscoliosis (HP:0002751)2.21176007
73Menorrhagia (HP:0000132)2.19198571
74Spastic paraparesis (HP:0002313)2.19146398
75Abnormal ossification of hand bones (HP:0005921)2.18964596
76Myocardial infarction (HP:0001658)2.18313011
77Attenuation of retinal blood vessels (HP:0007843)2.15058808
78Abnormality of carpal bone ossification (HP:0006257)2.14832090
79Protrusio acetabuli (HP:0003179)2.14614049
80Pulmonary embolism (HP:0002204)2.11962174
81Hand muscle atrophy (HP:0009130)2.09503979
82Keratoconjunctivitis sicca (HP:0001097)2.09431529
83Bladder diverticulum (HP:0000015)2.08832977
84Scotoma (HP:0000575)2.07311280
85Biconcave vertebral bodies (HP:0004586)2.05266813
86Decreased lacrimation (HP:0000633)2.01825037
87Abnormality of aromatic amino acid family metabolism (HP:0004338)2.01662145
88Diaphragmatic weakness (HP:0009113)2.00902915
89Bony spicule pigmentary retinopathy (HP:0007737)2.00256283
90* Ulnar claw (HP:0001178)17.2593591
91* Segmental peripheral demyelination/remyelination (HP:0003481)13.9787343
92* Impaired proprioception (HP:0010831)10.6868512
93Abnormal hand bone ossification (HP:0010660)1.99802399
94Ankle contracture (HP:0006466)1.99491937
95Ocular albinism (HP:0001107)1.98253082
96Prolonged bleeding time (HP:0003010)1.96006890
97Thrombophlebitis (HP:0004418)1.95127787
98Colitis (HP:0002583)1.92287722
99Abnormality of the lumbar spine (HP:0100712)1.90307916
100Stridor (HP:0010307)1.88945245
101Upper limb amyotrophy (HP:0009129)1.88747874
102Distal upper limb amyotrophy (HP:0007149)1.88747874
103Cerebral aneurysm (HP:0004944)1.88588807
104Arterial thrombosis (HP:0004420)1.87813833
105Supernumerary bones of the axial skeleton (HP:0009144)1.86872624
106Osteomalacia (HP:0002749)1.86520940
107Increased IgE level (HP:0003212)1.85616436
108Germ cell neoplasia (HP:0100728)1.85537885
109Epistaxis (HP:0000421)1.85494540
110Spontaneous abortion (HP:0005268)1.84841552
111Coxa vara (HP:0002812)1.84286661
112Hypolipoproteinemia (HP:0010981)1.83254442
113Mediastinal lymphadenopathy (HP:0100721)1.81395263
114* Peripheral hypomyelination (HP:0007182)1.81340098
115Gingivitis (HP:0000230)1.80430557
116Spontaneous hematomas (HP:0007420)1.78728338
117Premature graying of hair (HP:0002216)1.78336043
118Abnormal gallbladder physiology (HP:0012438)1.77300344
119Cholecystitis (HP:0001082)1.77300344
120Hypoalphalipoproteinemia (HP:0003233)1.75645555
121Disproportionate tall stature (HP:0001519)1.75322209
122Hypoplasia of the capital femoral epiphysis (HP:0003090)1.75020021
123Seborrheic dermatitis (HP:0001051)1.73976356
124Keratoconjunctivitis (HP:0001096)1.73816656
125Episodic fever (HP:0001954)1.69774760
126Aortic dissection (HP:0002647)1.69275501
127Abnormality of the fovea (HP:0000493)1.69210703
128Glomerulopathy (HP:0100820)1.69083929
129Soft skin (HP:0000977)1.69039569
130Macular degeneration (HP:0000608)1.68589134
131Hypercalciuria (HP:0002150)1.67947425
132Alopecia of scalp (HP:0002293)1.66520244
133* Slow progression (HP:0003677)1.63393178
134Renovascular hypertension (HP:0100817)1.63178906
135Aplasia/hypoplasia of the uterus (HP:0008684)1.59904646
136Mitral valve prolapse (HP:0001634)1.58599341
137Childhood onset (HP:0011463)1.54867191
138Bowel diverticulosis (HP:0005222)1.46469962
139* Upper limb muscle weakness (HP:0003484)1.46221202
140Peritonitis (HP:0002586)1.44357405
141Ankle clonus (HP:0011448)1.43913171
142* Pes cavus (HP:0001761)1.43773116
143Gonadal dysgenesis (HP:0000133)1.40323023
144Pheochromocytoma (HP:0002666)1.39688084
145Abnormality of the lower motor neuron (HP:0002366)1.39148428
146Myokymia (HP:0002411)1.38561692
147Hypoventilation (HP:0002791)1.38110066
148Axonal loss (HP:0003447)1.35800099
149Dilatation of the ascending aorta (HP:0005111)1.29256069
150Striae distensae (HP:0001065)1.28776991
151Hyporeflexia of lower limbs (HP:0002600)1.28383863
152Genu recurvatum (HP:0002816)1.24209480
153Overgrowth (HP:0001548)1.23739281
154Aplasia cutis congenita (HP:0001057)1.23450796
155Increased connective tissue (HP:0009025)1.20355972
156Increased variability in muscle fiber diameter (HP:0003557)1.18865896
157Osteolytic defects of the phalanges of the hand (HP:0009771)1.17846089
158Osteolytic defects of the hand bones (HP:0009699)1.17846089
159Increased corneal curvature (HP:0100692)1.14194236
160Keratoconus (HP:0000563)1.14194236
161Myotonia (HP:0002486)1.13402160
162Difficulty running (HP:0009046)1.13327576
163Supranuclear gaze palsy (HP:0000605)1.13169718
164Neuroendocrine neoplasm (HP:0100634)1.12698716
165Muscular dystrophy (HP:0003560)1.12284554
166Hypercortisolism (HP:0001578)1.11867019
167Aplasia/Hypoplasia of the brainstem (HP:0007362)1.11779314
168Hypoplasia of the brainstem (HP:0002365)1.11779314
169Hyperextensible skin (HP:0000974)1.10330670
170Submucous cleft hard palate (HP:0000176)1.08828738
171Wrist flexion contracture (HP:0001239)1.06950277
172Thoracolumbar scoliosis (HP:0002944)1.06535609
173Muscle fiber splitting (HP:0003555)1.04118913
174Abnormality of pain sensation (HP:0010832)1.04030654
175Impaired pain sensation (HP:0007328)1.04030654
176Esophageal atresia (HP:0002032)1.02110176
177Broad metatarsal (HP:0001783)1.00929328
178Insomnia (HP:0100785)1.00627020
179Split hand (HP:0001171)0.99963466
180Venous insufficiency (HP:0005293)0.99595283
181Neonatal short-limb short stature (HP:0008921)0.99556363
182Distal arthrogryposis (HP:0005684)0.98784940
183Milia (HP:0001056)0.98776080
184Spinal rigidity (HP:0003306)0.98505474
185Abnormality of skeletal muscle fiber size (HP:0012084)0.98135749
186Wormian bones (HP:0002645)0.97843058
187Nephrolithiasis (HP:0000787)0.96839107
188Infantile muscular hypotonia (HP:0008947)0.95282538
189Hypoplasia of the iris (HP:0007676)0.94602315
190Difficulty climbing stairs (HP:0003551)0.93393896
191Gastrointestinal infarctions (HP:0005244)0.92824260

Predicted kinase interactions (KEA)

RankGene SetZ-score
1IRAK24.89321473
2IRAK13.54347728
3FGFR43.47669944
4KSR23.46673564
5ERN13.44272673
6STK393.27135941
7RET3.22098639
8LMTK23.17485528
9MAP3K23.01876463
10EPHB12.96148892
11WNK42.72853179
12NTRK12.58474245
13UHMK12.48416400
14CDK122.44532536
15LIMK12.37485333
16PRKD32.30196588
17MAP4K12.22695312
18NTRK32.21791428
19SIK22.03428130
20WNK11.99841475
21BLK1.95835609
22MINK11.95088199
23TRIB31.93534934
24MARK21.87929621
25LATS21.86898005
26EEF2K1.82773249
27MAP3K91.79712670
28MAP2K31.75723711
29TYK21.63955766
30ICK1.62269870
31PRPF4B1.56983670
32PAK61.56068710
33IRAK41.48804913
34ERBB21.40401188
35PHKG11.39484897
36PHKG21.39484897
37TGFBR21.38706457
38MAP3K41.37525844
39FGR1.31424915
40IRAK31.23938169
41ZAP701.21886725
42PTK61.20934838
43LRRK21.20056420
44PTK2B1.16463243
45PTK21.16455124
46SMG11.14946932
47MAP2K11.12053025
48PKN21.10071805
49CDK51.08238358
50FES1.06672243
51RIPK41.03059439
52MATK1.02592346
53JAK31.01766271
54BTK1.00635871
55HCK1.00257847
56MAP3K11.00073322
57MAP3K60.99657757
58SYK0.98361644
59CAMK1G0.94222703
60FER0.94121815
61TTN0.92857543
62CAMK1D0.92741318
63DDR20.92346273
64SCYL20.91561848
65RPS6KA20.88027656
66MET0.87258555
67MAP2K20.83249415
68ROCK10.82999213
69MAP3K30.80123050
70SGK30.79876102
71TNK20.79734078
72PDGFRA0.79730298
73SIK10.78629988
74SGK2230.78338033
75SGK4940.78338033
76MAP3K140.77112209
77AKT30.76023031
78FRK0.75378151
79PRKD20.75269936
80PRKAA20.74505277
81MAP2K40.73643011
82ROCK20.72001459
83FYN0.71491576
84TBK10.68491318
85PAK30.66924629
86CSF1R0.66126934
87TESK20.65940537
88BRD40.64990509
89MARK30.64438983
90GSK3A0.63944899
91LYN0.63433278
92CAMKK10.62633935
93MAP3K70.62142729
94PRKD10.62114200
95EPHB20.61623840
96PLK20.61385703
97MTOR0.60643286
98LCK0.60217239
99PIK3CG0.59418269
100SRC0.59186564
101MAPK110.58789900
102PAK40.58774218
103GRK60.57660684
104MARK10.56198782
105BMX0.56043850
106RPS6KC10.56020675
107RPS6KL10.56020675
108KIT0.54866494
109MAPK120.54783698
110SGK20.54285531
111TAOK20.54139869
112DYRK1B0.53664734
113ITK0.51534926
114ILK0.50601591
115PDGFRB0.49392028
116CDC42BPA0.49364761
117CDK140.49070507
118TYRO30.48178527
119MAP3K110.47650772
120PRKCH0.47258579
121CDK60.44707391
122RPS6KA60.42697851
123YES10.42663242
124JAK20.41687537
125SGK10.41311267
126CDK70.41092264
127MAPK30.40956152
128PDK10.40299358
129ADRBK10.40100791
130RPS6KA10.39341478
131PDPK10.38894735
132NEK20.37665448
133FGFR30.36869565
134JAK10.35657648
135FGFR20.35178945
136HIPK20.34961034
137KSR10.34439647
138EPHA30.32816709
139RIPK10.32766580
140GRK50.31996310
141PRKCQ0.31629881
142PINK10.30210554
143CDK150.29650745
144INSR0.29227074
145MAPK100.27747373
146NEK90.27393116
147CSNK1G20.27253557
148CDK180.26766121
149LATS10.26675669
150CSK0.26552008
151PRKCZ0.26299510
152MAP3K80.25969063
153PRKCE0.25647177
154STK380.25519284

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.28171548
2Staphylococcus aureus infection_Homo sapiens_hsa051503.68824181
3ECM-receptor interaction_Homo sapiens_hsa045123.16284185
4Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.04629156
5Other glycan degradation_Homo sapiens_hsa005112.77640132
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.62663750
7Dorso-ventral axis formation_Homo sapiens_hsa043202.44866705
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.19820497
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.19549540
10Axon guidance_Homo sapiens_hsa043601.99100577
11Protein digestion and absorption_Homo sapiens_hsa049741.94298705
12Viral myocarditis_Homo sapiens_hsa054161.93263002
13Dilated cardiomyopathy_Homo sapiens_hsa054141.84070932
14Osteoclast differentiation_Homo sapiens_hsa043801.81074646
15Focal adhesion_Homo sapiens_hsa045101.78542674
16Glioma_Homo sapiens_hsa052141.76591183
17Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.75846146
18Fatty acid biosynthesis_Homo sapiens_hsa000611.74135269
19Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.73861661
20PPAR signaling pathway_Homo sapiens_hsa033201.73378219
21Steroid biosynthesis_Homo sapiens_hsa001001.72580470
22Amoebiasis_Homo sapiens_hsa051461.72528712
23Phenylalanine metabolism_Homo sapiens_hsa003601.70242036
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.70182712
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.69365495
26Glycosaminoglycan degradation_Homo sapiens_hsa005311.69238871
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.68350372
28Cyanoamino acid metabolism_Homo sapiens_hsa004601.63685761
29Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.63309369
30Acute myeloid leukemia_Homo sapiens_hsa052211.61695193
31Leishmaniasis_Homo sapiens_hsa051401.61643048
32Tyrosine metabolism_Homo sapiens_hsa003501.55413932
33Thyroid cancer_Homo sapiens_hsa052161.53776879
34Pertussis_Homo sapiens_hsa051331.51423240
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.51196382
36Tight junction_Homo sapiens_hsa045301.49548023
37Adipocytokine signaling pathway_Homo sapiens_hsa049201.46347906
38Estrogen signaling pathway_Homo sapiens_hsa049151.42896536
39Small cell lung cancer_Homo sapiens_hsa052221.42263944
40B cell receptor signaling pathway_Homo sapiens_hsa046621.40131699
41* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.37013833
42Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.37011383
43Long-term potentiation_Homo sapiens_hsa047201.32166745
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.31560100
45Toxoplasmosis_Homo sapiens_hsa051451.24951140
46Endometrial cancer_Homo sapiens_hsa052131.23609617
47ErbB signaling pathway_Homo sapiens_hsa040121.22192718
48Long-term depression_Homo sapiens_hsa047301.18750446
49Neurotrophin signaling pathway_Homo sapiens_hsa047221.17492589
50Cholinergic synapse_Homo sapiens_hsa047251.16010570
51Gastric acid secretion_Homo sapiens_hsa049711.14825739
52Malaria_Homo sapiens_hsa051441.14522772
53Hedgehog signaling pathway_Homo sapiens_hsa043401.14505748
54Arginine biosynthesis_Homo sapiens_hsa002201.10659618
55GnRH signaling pathway_Homo sapiens_hsa049121.10080811
56Gap junction_Homo sapiens_hsa045401.09220437
57Histidine metabolism_Homo sapiens_hsa003401.08350156
58Fat digestion and absorption_Homo sapiens_hsa049751.07904873
59Tuberculosis_Homo sapiens_hsa051521.07383776
60Leukocyte transendothelial migration_Homo sapiens_hsa046701.04815279
61Chronic myeloid leukemia_Homo sapiens_hsa052201.04767906
62Synaptic vesicle cycle_Homo sapiens_hsa047211.04470838
63Prion diseases_Homo sapiens_hsa050201.04325047
64Vitamin digestion and absorption_Homo sapiens_hsa049771.01321875
65VEGF signaling pathway_Homo sapiens_hsa043701.01153293
66Retinol metabolism_Homo sapiens_hsa008301.01032544
67Circadian entrainment_Homo sapiens_hsa047130.99935497
68Dopaminergic synapse_Homo sapiens_hsa047280.98863626
69ABC transporters_Homo sapiens_hsa020100.98577139
70Toll-like receptor signaling pathway_Homo sapiens_hsa046200.98054728
71Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.97267421
72Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.97134655
73Proteoglycans in cancer_Homo sapiens_hsa052050.94645392
74Platelet activation_Homo sapiens_hsa046110.94369041
75Insulin secretion_Homo sapiens_hsa049110.93679657
76NF-kappa B signaling pathway_Homo sapiens_hsa040640.93424172
77Phospholipase D signaling pathway_Homo sapiens_hsa040720.92663115
78Lysosome_Homo sapiens_hsa041420.92375742
79Bile secretion_Homo sapiens_hsa049760.89549480
80AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.89330889
81Insulin signaling pathway_Homo sapiens_hsa049100.88751238
82Fatty acid degradation_Homo sapiens_hsa000710.88291956
83Insulin resistance_Homo sapiens_hsa049310.88274635
84Fatty acid elongation_Homo sapiens_hsa000620.85774020
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.85635833
86Salivary secretion_Homo sapiens_hsa049700.84236891
87Renin secretion_Homo sapiens_hsa049240.83264375
88HIF-1 signaling pathway_Homo sapiens_hsa040660.83131619
89Melanoma_Homo sapiens_hsa052180.82758279
90Chemokine signaling pathway_Homo sapiens_hsa040620.82191563
91Prolactin signaling pathway_Homo sapiens_hsa049170.82105515
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.81331907
93Aldosterone synthesis and secretion_Homo sapiens_hsa049250.81137714
94Glutamatergic synapse_Homo sapiens_hsa047240.79105710
95NOD-like receptor signaling pathway_Homo sapiens_hsa046210.78296972
96Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.78284386
97Jak-STAT signaling pathway_Homo sapiens_hsa046300.77017927
98Taste transduction_Homo sapiens_hsa047420.76742753
99Notch signaling pathway_Homo sapiens_hsa043300.76200002
100PI3K-Akt signaling pathway_Homo sapiens_hsa041510.76131970
101Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74846253
102Fructose and mannose metabolism_Homo sapiens_hsa000510.74239246
103TNF signaling pathway_Homo sapiens_hsa046680.73734630
104Influenza A_Homo sapiens_hsa051640.72182869
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.71368572
106Butanoate metabolism_Homo sapiens_hsa006500.71006383
107Non-small cell lung cancer_Homo sapiens_hsa052230.70277578
108Starch and sucrose metabolism_Homo sapiens_hsa005000.68707380
109Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.68037315
110Thyroid hormone synthesis_Homo sapiens_hsa049180.67644818
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.67480349
112Ras signaling pathway_Homo sapiens_hsa040140.67253308
113Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.66783495
114Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.66703983
115Melanogenesis_Homo sapiens_hsa049160.66659633
116Rap1 signaling pathway_Homo sapiens_hsa040150.66378996
117Measles_Homo sapiens_hsa051620.66378844
118African trypanosomiasis_Homo sapiens_hsa051430.65638183
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65630953
120Oxytocin signaling pathway_Homo sapiens_hsa049210.64562020
121Fatty acid metabolism_Homo sapiens_hsa012120.63079519
122Phagosome_Homo sapiens_hsa041450.62713349
123Hepatitis B_Homo sapiens_hsa051610.62468401
124Phosphatidylinositol signaling system_Homo sapiens_hsa040700.61355490
125Bladder cancer_Homo sapiens_hsa052190.61136288
126Hepatitis C_Homo sapiens_hsa051600.61062668
127Inositol phosphate metabolism_Homo sapiens_hsa005620.60484460
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59928384
129Adherens junction_Homo sapiens_hsa045200.59291183
130Legionellosis_Homo sapiens_hsa051340.59232553
131Choline metabolism in cancer_Homo sapiens_hsa052310.58375297
132Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58203759
133Salmonella infection_Homo sapiens_hsa051320.57841340
134Renal cell carcinoma_Homo sapiens_hsa052110.57342332
135Nitrogen metabolism_Homo sapiens_hsa009100.56873867
136mTOR signaling pathway_Homo sapiens_hsa041500.55995798
137Serotonergic synapse_Homo sapiens_hsa047260.55028470
138GABAergic synapse_Homo sapiens_hsa047270.54748480
139Olfactory transduction_Homo sapiens_hsa047400.53642550
140Vascular smooth muscle contraction_Homo sapiens_hsa042700.52453071
141Type II diabetes mellitus_Homo sapiens_hsa049300.52434701
142Biosynthesis of amino acids_Homo sapiens_hsa012300.52220921
143Glycerophospholipid metabolism_Homo sapiens_hsa005640.51599863
144Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.51578428
145Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51264667
146Pancreatic cancer_Homo sapiens_hsa052120.50472990
147Glucagon signaling pathway_Homo sapiens_hsa049220.50230461
148Alcoholism_Homo sapiens_hsa050340.49049350
149Endocytosis_Homo sapiens_hsa041440.48767216
150Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47976374
151Oocyte meiosis_Homo sapiens_hsa041140.47500764
152cGMP-PKG signaling pathway_Homo sapiens_hsa040220.46881051
153Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.46766893
154Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46569910
155Lysine degradation_Homo sapiens_hsa003100.45368922
156Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44965732
157Primary bile acid biosynthesis_Homo sapiens_hsa001200.43880087
158Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43553561
159Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.41795972
160Herpes simplex infection_Homo sapiens_hsa051680.41693026
161Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40706845
162FoxO signaling pathway_Homo sapiens_hsa040680.40236192
163Apoptosis_Homo sapiens_hsa042100.39751341
1642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.38273322
165Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35343688

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