NEU4

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: The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)9.83521279
2locomotory exploration behavior (GO:0035641)9.41675539
3gonadal mesoderm development (GO:0007506)8.36483986
4activated T cell proliferation (GO:0050798)7.71962249
5dermatan sulfate biosynthetic process (GO:0030208)7.17703246
6amino acid import (GO:0043090)6.84365655
7regulation of axon regeneration (GO:0048679)6.61159951
8regulation of neuron projection regeneration (GO:0070570)6.61159951
9dermatan sulfate metabolic process (GO:0030205)6.57260223
10negative regulation of fibrinolysis (GO:0051918)6.49784471
11presynaptic membrane assembly (GO:0097105)6.42855651
12regulation of transmission of nerve impulse (GO:0051969)6.38394932
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.20475274
14peptidyl-glutamic acid carboxylation (GO:0017187)5.97794782
15protein carboxylation (GO:0018214)5.97794782
16plasma lipoprotein particle assembly (GO:0034377)5.94424751
17regulation of fibrinolysis (GO:0051917)5.86633738
18positive regulation of synaptic transmission, glutamatergic (GO:0051968)5.81153090
19chondroitin sulfate catabolic process (GO:0030207)5.79281504
20regulation of cholesterol esterification (GO:0010872)5.79165988
21very-low-density lipoprotein particle assembly (GO:0034379)5.77484876
22plasma lipoprotein particle remodeling (GO:0034369)5.71692726
23protein-lipid complex remodeling (GO:0034368)5.71692726
24macromolecular complex remodeling (GO:0034367)5.71692726
25L-amino acid import (GO:0043092)5.69613075
26exploration behavior (GO:0035640)5.62298894
27postsynaptic membrane organization (GO:0001941)5.61237726
28protein-lipid complex assembly (GO:0065005)5.50576206
29low-density lipoprotein particle remodeling (GO:0034374)5.48987047
30cholesterol efflux (GO:0033344)5.46543398
31negative regulation of cholesterol transport (GO:0032375)5.44936683
32negative regulation of sterol transport (GO:0032372)5.44936683
33presynaptic membrane organization (GO:0097090)5.33690166
34high-density lipoprotein particle remodeling (GO:0034375)5.13573068
35plasma lipoprotein particle organization (GO:0071827)5.07999819
36intestinal cholesterol absorption (GO:0030299)5.05722989
37positive regulation of fatty acid biosynthetic process (GO:0045723)5.05203555
38positive regulation of lipoprotein lipase activity (GO:0051006)5.02758036
39positive regulation of triglyceride lipase activity (GO:0061365)5.02758036
40reverse cholesterol transport (GO:0043691)4.96644132
41L-phenylalanine catabolic process (GO:0006559)4.90755640
42erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.90755640
43phospholipid efflux (GO:0033700)4.89459840
44regulation of protein activation cascade (GO:2000257)4.89389850
45protein-lipid complex subunit organization (GO:0071825)4.89320305
46long-term synaptic potentiation (GO:0060291)4.84395757
47positive regulation of neurological system process (GO:0031646)4.81016072
48complement activation, alternative pathway (GO:0006957)4.78763712
49response to methylmercury (GO:0051597)4.76272536
50plasma lipoprotein particle clearance (GO:0034381)4.74328105
51L-phenylalanine metabolic process (GO:0006558)4.73093787
52erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.73093787
53regulation of complement activation (GO:0030449)4.70211608
54regulation of cholesterol homeostasis (GO:2000188)4.65990903
55proline metabolic process (GO:0006560)4.53504523
56regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.52750332
57regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)4.38515022
58astrocyte differentiation (GO:0048708)4.37899330
59regulation of plasminogen activation (GO:0010755)4.33303683
60oligodendrocyte differentiation (GO:0048709)4.26464231
61detection of mechanical stimulus involved in sensory perception (GO:0050974)4.18132878
62regulation of bile acid biosynthetic process (GO:0070857)4.17360773
63acute-phase response (GO:0006953)4.13624582
64positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.08458622
65neurotransmitter-gated ion channel clustering (GO:0072578)4.06751017
66vocalization behavior (GO:0071625)4.05644160
67glutamate metabolic process (GO:0006536)4.05200510
68transmission of nerve impulse (GO:0019226)4.03886050
69sulfation (GO:0051923)4.03743180
70diacylglycerol metabolic process (GO:0046339)4.01539890
71ionotropic glutamate receptor signaling pathway (GO:0035235)3.99373650
72regulation of apoptotic cell clearance (GO:2000425)3.98939335
73C4-dicarboxylate transport (GO:0015740)3.97180295
74cellular response to epinephrine stimulus (GO:0071872)3.96566300
75blood coagulation, intrinsic pathway (GO:0007597)3.95300303
76epoxygenase P450 pathway (GO:0019373)3.92580216
77vitamin A metabolic process (GO:0006776)3.92333098
78regulation of cholesterol biosynthetic process (GO:0045540)3.87969753
79fibrinolysis (GO:0042730)3.85865326
80axon ensheathment in central nervous system (GO:0032291)3.83612449
81central nervous system myelination (GO:0022010)3.83612449
82intestinal absorption (GO:0050892)3.79830851
83dendrite morphogenesis (GO:0048813)3.79499523
84positive regulation of extracellular matrix organization (GO:1903055)3.75998854
85lipoprotein metabolic process (GO:0042157)3.72765160
86chondroitin sulfate biosynthetic process (GO:0030206)3.69897618
87myelination (GO:0042552)3.68143072
88ethanol oxidation (GO:0006069)3.66413361
89negative regulation of axon extension (GO:0030517)3.65732945
90neuron recognition (GO:0008038)3.64774400
91triglyceride homeostasis (GO:0070328)3.61975460
92acylglycerol homeostasis (GO:0055090)3.61975460
93regulation of synaptic transmission, glutamatergic (GO:0051966)3.60935875
94regulation of triglyceride catabolic process (GO:0010896)3.59797196
95negative regulation of hemostasis (GO:1900047)3.55587216
96negative regulation of blood coagulation (GO:0030195)3.55587216
97positive regulation of lipid catabolic process (GO:0050996)3.54133487
98ensheathment of neurons (GO:0007272)3.52165045
99axon ensheathment (GO:0008366)3.52165045
100response to epinephrine (GO:0071871)3.51760830
101regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.50919224
102urea metabolic process (GO:0019627)3.49933284
103positive regulation of steroid metabolic process (GO:0045940)3.48733104
104collecting duct development (GO:0072044)3.47869660
105respiratory tube development (GO:0030323)3.46836279
106regulation of extracellular matrix organization (GO:1903053)3.46757906
107regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.46365139
108cholesterol homeostasis (GO:0042632)3.46035005
109positive regulation of cellular amide metabolic process (GO:0034250)3.43595278
110dicarboxylic acid biosynthetic process (GO:0043650)3.43112622
111peripheral nervous system axon ensheathment (GO:0032292)3.41591476
112myelination in peripheral nervous system (GO:0022011)3.41591476
113sterol homeostasis (GO:0055092)3.40505371
114regulation of fatty acid biosynthetic process (GO:0042304)3.36562493
115regulation of timing of cell differentiation (GO:0048505)3.35295472
116cholesterol transport (GO:0030301)3.33806004
117sterol transport (GO:0015918)3.33806004
118positive regulation of blood coagulation (GO:0030194)3.32786975
119positive regulation of hemostasis (GO:1900048)3.32786975
120negative regulation of lipid transport (GO:0032369)3.32746738
121urea cycle (GO:0000050)3.31853654
122regulation of glutamate receptor signaling pathway (GO:1900449)3.29929606
123regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.29843236
124protein activation cascade (GO:0072376)3.29064903
125positive regulation of endothelial cell differentiation (GO:0045603)3.26734599
126detection of mechanical stimulus (GO:0050982)3.26620592
127aromatic amino acid family catabolic process (GO:0009074)3.26297888
128regulation of extracellular matrix disassembly (GO:0010715)3.23882542
129cerebellar granule cell differentiation (GO:0021707)3.22798525
130regulation of cholesterol metabolic process (GO:0090181)3.20827835
131membrane assembly (GO:0071709)3.17988840
132negative regulation of coagulation (GO:0050819)3.17751554
133fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.16780157
134fat-soluble vitamin biosynthetic process (GO:0042362)3.16435788
135response to hepatocyte growth factor (GO:0035728)3.13538853
136cellular response to hepatocyte growth factor stimulus (GO:0035729)3.13538853
137glutamate receptor signaling pathway (GO:0007215)3.13479632
138positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.13142413
139negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.12570282
140regulation of platelet aggregation (GO:0090330)3.12517129
141regulation of axon guidance (GO:1902667)3.12345950
142nitrogen cycle metabolic process (GO:0071941)3.11288313
143renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)3.11073438
144negative regulation of myoblast differentiation (GO:0045662)3.10343917
145negative regulation of platelet activation (GO:0010544)3.10234384
146ethanol metabolic process (GO:0006067)3.09329831
147negative regulation of lipase activity (GO:0060192)3.07676295
148startle response (GO:0001964)3.07663450
149positive regulation of coagulation (GO:0050820)3.07651716
150mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.07578464
151mesenchymal cell differentiation involved in renal system development (GO:2001012)3.04162714
152mesenchymal cell differentiation involved in kidney development (GO:0072161)3.04162714
153righting reflex (GO:0060013)3.02004925
154opioid receptor signaling pathway (GO:0038003)3.01793312
155negative regulation of wound healing (GO:0061045)3.01669415
156regulation of cell proliferation involved in kidney development (GO:1901722)3.01253668
157regulation of axon extension involved in axon guidance (GO:0048841)3.00170744
158detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.99099504
159glycerophospholipid catabolic process (GO:0046475)2.99002283
160lymphoid progenitor cell differentiation (GO:0002320)2.98589029
161positive regulation of synapse assembly (GO:0051965)2.97913165
162negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.97685046
163exogenous drug catabolic process (GO:0042738)2.96126177
164complement activation, classical pathway (GO:0006958)2.94908185
165positive regulation of fatty acid metabolic process (GO:0045923)2.93815940
166auditory behavior (GO:0031223)2.91833299
167negative regulation of synaptic transmission (GO:0050805)2.91750762
168regulation of humoral immune response (GO:0002920)2.91672700
169glyoxylate metabolic process (GO:0046487)2.91555993
170low-density lipoprotein particle clearance (GO:0034383)2.90052800
171complement activation (GO:0006956)2.88486621
172chondroitin sulfate metabolic process (GO:0030204)2.88483258
173positive regulation of oligodendrocyte differentiation (GO:0048714)2.87371302
174synaptic transmission, glutamatergic (GO:0035249)2.86074751
175acute inflammatory response (GO:0002526)2.84820964
176regulation of cell-cell adhesion mediated by cadherin (GO:2000047)2.84007953
177proline biosynthetic process (GO:0006561)2.83770646
178lipid homeostasis (GO:0055088)2.83725044
179glutamine family amino acid biosynthetic process (GO:0009084)2.83138882
180prepulse inhibition (GO:0060134)2.82328933
181regulation of development, heterochronic (GO:0040034)2.82222571
182drug catabolic process (GO:0042737)2.80871997
183dendritic spine morphogenesis (GO:0060997)2.79985132
184pinocytosis (GO:0006907)2.78482024
185response to auditory stimulus (GO:0010996)2.76398507
186imidazole-containing compound metabolic process (GO:0052803)2.73726579
187bile acid metabolic process (GO:0008206)2.73368884
188regulation of heterotypic cell-cell adhesion (GO:0034114)2.73145241
189retina layer formation (GO:0010842)2.72070773
190glial cell differentiation (GO:0010001)2.71736031
191protein localization to synapse (GO:0035418)2.71323907
192regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.70447529
193synapse assembly (GO:0007416)2.70011961
194axonal fasciculation (GO:0007413)2.67899714
195synapse organization (GO:0050808)2.67766404
196negative regulation of protein localization to cell surface (GO:2000009)2.65723174
197ovulation cycle (GO:0042698)2.65601983
198regulation of respiratory system process (GO:0044065)2.65371776
199regulation of glomerulus development (GO:0090192)2.61033325
200neuromuscular process controlling balance (GO:0050885)2.60921603

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.37105540
2AR_21572438_ChIP-Seq_LNCaP_Human4.09774379
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.05781867
4PPARA_22158963_ChIP-Seq_LIVER_Mouse3.61616138
5THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.52668626
6GBX2_23144817_ChIP-Seq_PC3_Human3.43791061
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.22134879
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.12468968
9LXR_22158963_ChIP-Seq_LIVER_Mouse3.07815011
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94545278
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.86449002
12SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.86245944
13SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79210383
14* LXR_22292898_ChIP-Seq_THP-1_Human2.58411535
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.58048825
16EZH2_22144423_ChIP-Seq_EOC_Human2.55289540
17RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50592400
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50592400
19NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.41783464
20* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.40224255
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.39885376
22SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.39618971
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.36480351
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.32829292
25JARID2_20075857_ChIP-Seq_MESCs_Mouse2.29825055
26PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.25921118
27CTBP1_25329375_ChIP-Seq_LNCAP_Human2.23099693
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.21536192
29MTF2_20144788_ChIP-Seq_MESCs_Mouse2.19591993
30FOXA2_19822575_ChIP-Seq_HepG2_Human2.14320281
31CTBP2_25329375_ChIP-Seq_LNCAP_Human2.11197929
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.09187233
33CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.08605223
34EZH2_27294783_Chip-Seq_ESCs_Mouse2.08371911
35NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.06041255
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.05636678
37EGR1_23403033_ChIP-Seq_LIVER_Mouse2.04332299
38SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.02073844
39VDR_21846776_ChIP-Seq_THP-1_Human2.00396708
40ZNF263_19887448_ChIP-Seq_K562_Human1.99499150
41CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.98326705
42RNF2_27304074_Chip-Seq_ESCs_Mouse1.94187197
43SUZ12_27294783_Chip-Seq_ESCs_Mouse1.91151954
44ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84639285
45OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.83371947
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.79991368
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.79052668
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.78420281
49RARG_19884340_ChIP-ChIP_MEFs_Mouse1.72620448
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.71257865
51* TCF7_22412390_ChIP-Seq_EML_Mouse1.66835972
52SMAD4_21799915_ChIP-Seq_A2780_Human1.65780847
53DROSHA_22980978_ChIP-Seq_HELA_Human1.64790684
54NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.64580458
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.62957033
56ER_23166858_ChIP-Seq_MCF-7_Human1.62260211
57RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.60638321
58VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.59365471
59* HNF4A_19822575_ChIP-Seq_HepG2_Human1.59364394
60DNAJC2_21179169_ChIP-ChIP_NT2_Human1.54903392
61* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.54873412
62ZNF217_24962896_ChIP-Seq_MCF-7_Human1.52923915
63ERG_21242973_ChIP-ChIP_JURKAT_Human1.52725658
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.52525437
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.51641624
66CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.51634238
67CDX2_20551321_ChIP-Seq_CACO-2_Human1.51303169
68KDM2B_26808549_Chip-Seq_K562_Human1.50619059
69RACK7_27058665_Chip-Seq_MCF-7_Human1.50370645
70TP63_17297297_ChIP-ChIP_HaCaT_Human1.49749716
71SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.47634973
72SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45793890
73ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.42536096
74REST_21632747_ChIP-Seq_MESCs_Mouse1.41520202
75P68_20966046_ChIP-Seq_HELA_Human1.41216273
76P300_19829295_ChIP-Seq_ESCs_Human1.41028686
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.40914645
78SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.39014312
79HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.35444013
80CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.35409580
81TAF15_26573619_Chip-Seq_HEK293_Human1.34873447
82FUS_26573619_Chip-Seq_HEK293_Human1.34302369
83MYC_22102868_ChIP-Seq_BL_Human1.34042392
84TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33725993
85CLOCK_20551151_ChIP-Seq_293T_Human1.33552899
86* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.33390790
87* ELK3_25401928_ChIP-Seq_HUVEC_Human1.33115279
88TRIM28_21343339_ChIP-Seq_HEK293_Human1.33029257
89RING1B_27294783_Chip-Seq_ESCs_Mouse1.32189240
90NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32161938
91VDR_24763502_ChIP-Seq_THP-1_Human1.31139365
92SMC4_20622854_ChIP-Seq_HELA_Human1.30891208
93IRF8_22096565_ChIP-ChIP_GC-B_Human1.30550970
94POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30238102
95KDM2B_26808549_Chip-Seq_DND41_Human1.29899049
96MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.29283093
97SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.29236700
98WT1_19549856_ChIP-ChIP_CCG9911_Human1.29180150
99TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28527976
100TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.28413546
101ZNF274_21170338_ChIP-Seq_K562_Hela1.27563503
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27193973
103LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26888401
104TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26196841
105GATA1_19941827_ChIP-Seq_MEL_Mouse1.26113001
106TP53_16413492_ChIP-PET_HCT116_Human1.25831267
107* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24968752
108CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22012167
109KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.21820481
110KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.21820481
111KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.21820481
112BCOR_27268052_Chip-Seq_Bcells_Human1.21792186
113TET1_21451524_ChIP-Seq_MESCs_Mouse1.21790441
114STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.20116077
115ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19294652
116SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.18685470
117TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18104346
118CTCF_27219007_Chip-Seq_ERYTHROID_Human1.16634855
119SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.15910456
120CREB1_26743006_Chip-Seq_LNCaP_Human1.15862411
121GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15167262
122STAT3_23295773_ChIP-Seq_U87_Human1.14889759
123BP1_19119308_ChIP-ChIP_Hs578T_Human1.14855290
124E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.14312249
125SA1_27219007_Chip-Seq_ERYTHROID_Human1.14289325
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13409511
127POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13409511
128AR_25329375_ChIP-Seq_VCAP_Human1.13240876
129NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.12573432
130NRF2_20460467_ChIP-Seq_MEFs_Mouse1.12573432
131KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.12533254
132PRDM14_20953172_ChIP-Seq_ESCs_Human1.12147708
133HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.11265212
134CTCF_27219007_Chip-Seq_Bcells_Human1.11189611
135VDR_24787735_ChIP-Seq_THP-1_Human1.10718946
136NFIB_24661679_ChIP-Seq_LUNG_Mouse1.10474808
137ELF1_20517297_ChIP-Seq_JURKAT_Human1.10109106
138SOX2_27498859_Chip-Seq_STOMACH_Mouse1.10102092
139CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09983263
140* EZH2_27294783_Chip-Seq_NPCs_Mouse1.09692598
141ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09502251
142NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09267190
143TCF4_23295773_ChIP-Seq_U87_Human1.08543335
144AHR_22903824_ChIP-Seq_MCF-7_Human1.08481963
145RING1B_27294783_Chip-Seq_NPCs_Mouse1.08092391
146EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.07697467
147SUZ12_27294783_Chip-Seq_NPCs_Mouse1.07514469
148WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07294875
149KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.07293709
150BCL6_27268052_Chip-Seq_Bcells_Human1.06676429
151SMAD3_21741376_ChIP-Seq_HESCs_Human1.06634568
152ESR2_21235772_ChIP-Seq_MCF-7_Human1.06431363
153ESR1_15608294_ChIP-ChIP_MCF-7_Human1.06428751
154ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.06152634
155UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.05789970
156TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.05771483
157STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.05281857
158PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.04744855
159BCAT_22108803_ChIP-Seq_LS180_Human1.04384714
160RUNX2_22187159_ChIP-Seq_PCA_Human1.04354182
161NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.04211921
162AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03862226
163RARB_27405468_Chip-Seq_BRAIN_Mouse1.03196195
164POU5F1_16153702_ChIP-ChIP_HESCs_Human1.03179695
165NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.03043150
166BRD4_27068464_Chip-Seq_AML-cells_Mouse1.02694860
167ARNT_22903824_ChIP-Seq_MCF-7_Human1.01672560
168FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.00429854
169RXRA_24833708_ChIP-Seq_LIVER_Mouse1.00270320
170TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99944068
171STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.98836528
172SA1_27219007_Chip-Seq_Bcells_Human0.98796185
173CTNNB1_20460455_ChIP-Seq_HCT116_Human0.97990200
174UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97738793
175RARB_24833708_ChIP-Seq_LIVER_Mouse0.97071814
176JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.96862805
177RARA_24833708_ChIP-Seq_LIVER_Mouse0.96601810
178NR3C1_23031785_ChIP-Seq_PC12_Mouse0.96386575
179RUNX1_27514584_Chip-Seq_MCF-7_Human0.95665914
180TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.95044081
181PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93647396
182CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.93378437
183SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.93268161
184ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91672152
185PU.1_20513432_ChIP-Seq_Bcells_Mouse0.90732953
186GATA1_22383799_ChIP-Seq_G1ME_Mouse0.88639228
187CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.87499003
188SRY_22984422_ChIP-ChIP_TESTIS_Rat0.87192944
189RAD21_21589869_ChIP-Seq_MESCs_Mouse0.86545889
190SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.85633671
191GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.85186388
192WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.83864646
193E2F1_20622854_ChIP-Seq_HELA_Human0.83063686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.39091046
2MP0002139_abnormal_hepatobiliary_system7.07384656
3MP0003880_abnormal_central_pattern5.13382322
4MP0005365_abnormal_bile_salt4.74745144
5MP0005257_abnormal_intraocular_pressure4.03282616
6MP0008875_abnormal_xenobiotic_pharmacok3.83859756
7MP0004742_abnormal_vestibular_system3.78274266
8MP0009840_abnormal_foam_cell3.70041639
9MP0003195_calcinosis3.66762420
10MP0005423_abnormal_somatic_nervous3.62068729
11MP0005085_abnormal_gallbladder_physiolo3.46868885
12MP0003136_yellow_coat_color3.28435389
13MP0000920_abnormal_myelination3.27673699
14MP0010329_abnormal_lipoprotein_level3.12315379
15MP0001666_abnormal_nutrient_absorption3.05661999
16MP0003941_abnormal_skin_development3.01119825
17MP0005058_abnormal_lysosome_morphology2.97994002
18MP0005171_absent_coat_pigmentation2.84154879
19MP0005451_abnormal_body_composition2.80735958
20MP0004859_abnormal_synaptic_plasticity2.56058963
21MP0003635_abnormal_synaptic_transmissio2.35656080
22MP0001529_abnormal_vocalization2.35404048
23MP0005645_abnormal_hypothalamus_physiol2.32480917
24MP0001486_abnormal_startle_reflex2.30135758
25MP0000778_abnormal_nervous_system2.28476325
26MP0004858_abnormal_nervous_system2.25508983
27MP0009745_abnormal_behavioral_response2.25286144
28MP0002064_seizures2.24581961
29MP0003011_delayed_dark_adaptation2.22457128
30MP0003303_peritoneal_inflammation2.18908040
31MP0005646_abnormal_pituitary_gland2.18455669
32MP0003252_abnormal_bile_duct2.15026050
33MP0002272_abnormal_nervous_system2.09335324
34MP0003690_abnormal_glial_cell2.07233370
35MP0002736_abnormal_nociception_after2.02786888
36MP0004145_abnormal_muscle_electrophysio2.01359941
37MP0005167_abnormal_blood-brain_barrier2.00956855
38MP0001968_abnormal_touch/_nociception2.00891063
39MP0002572_abnormal_emotion/affect_behav1.97296923
40MP0002063_abnormal_learning/memory/cond1.88515593
41MP0000462_abnormal_digestive_system1.83211561
42MP0000604_amyloidosis1.82161623
43MP0004270_analgesia1.82134641
44MP0003634_abnormal_glial_cell1.81212514
45MP0001440_abnormal_grooming_behavior1.77101366
46MP0003191_abnormal_cellular_cholesterol1.76787293
47MP0003436_decreased_susceptibility_to1.74721722
48MP0000609_abnormal_liver_physiology1.71937979
49* MP0002118_abnormal_lipid_homeostasis1.69955486
50MP0004142_abnormal_muscle_tone1.67229328
51MP0002067_abnormal_sensory_capabilities1.66157694
52MP0004134_abnormal_chest_morphology1.66034561
53MP0002184_abnormal_innervation1.65402824
54MP0003879_abnormal_hair_cell1.64903814
55MP0005332_abnormal_amino_acid1.63372915
56MP0002734_abnormal_mechanical_nocicepti1.63338823
57MP0000631_abnormal_neuroendocrine_gland1.57836202
58MP0004885_abnormal_endolymph1.56331713
59MP0001984_abnormal_olfaction1.54908244
60MP0003122_maternal_imprinting1.54581802
61MP0005409_darkened_coat_color1.53745036
62MP0002138_abnormal_hepatobiliary_system1.52673646
63MP0003632_abnormal_nervous_system1.52322249
64MP0000955_abnormal_spinal_cord1.44848738
65MP0009384_cardiac_valve_regurgitation1.43368425
66MP0009046_muscle_twitch1.43312209
67MP0003075_altered_response_to1.40707189
68MP0002557_abnormal_social/conspecific_i1.40455009
69MP0003385_abnormal_body_wall1.37826380
70MP0000566_synostosis1.36117826
71MP0001661_extended_life_span1.34742377
72MP0002882_abnormal_neuron_morphology1.32670131
73MP0009250_abnormal_appendicular_skeleto1.31754139
74MP0005076_abnormal_cell_differentiation1.28241323
75MP0001963_abnormal_hearing_physiology1.26146154
76MP0003656_abnormal_erythrocyte_physiolo1.21656395
77MP0005670_abnormal_white_adipose1.21189660
78MP0001958_emphysema1.18104711
79MP0000467_abnormal_esophagus_morphology1.16720434
80MP0001485_abnormal_pinna_reflex1.16625893
81MP0004019_abnormal_vitamin_homeostasis1.15916282
82MP0002733_abnormal_thermal_nociception1.14751317
83MP0008569_lethality_at_weaning1.14087941
84MP0001905_abnormal_dopamine_level1.13874734
85MP0001970_abnormal_pain_threshold1.13374450
86MP0000516_abnormal_urinary_system1.12930697
87MP0005367_renal/urinary_system_phenotyp1.12930697
88MP0003938_abnormal_ear_development1.12897708
89MP0001501_abnormal_sleep_pattern1.12170230
90MP0005623_abnormal_meninges_morphology1.11883663
91MP0002132_abnormal_respiratory_system1.11527879
92MP0000534_abnormal_ureter_morphology1.10130384
93MP0005551_abnormal_eye_electrophysiolog1.10095839
94MP0005319_abnormal_enzyme/_coenzyme1.08255229
95MP0002066_abnormal_motor_capabilities/c1.07843196
96MP0009278_abnormal_bone_marrow1.06141856
97MP0003329_amyloid_beta_deposits1.05947528
98MP0002090_abnormal_vision1.05396525
99MP0005666_abnormal_adipose_tissue1.04718096
100MP0002752_abnormal_somatic_nervous1.03503524
101MP0002152_abnormal_brain_morphology1.02927488
102MP0002282_abnormal_trachea_morphology1.02233241
103MP0001764_abnormal_homeostasis0.99821707
104MP0009780_abnormal_chondrocyte_physiolo0.99596511
105MP0001853_heart_inflammation0.98591065
106MP0005166_decreased_susceptibility_to0.98476754
107MP0008469_abnormal_protein_level0.98422781
108MP0005464_abnormal_platelet_physiology0.97393408
109MP0001502_abnormal_circadian_rhythm0.96864759
110MP0000733_abnormal_muscle_development0.96550138
111MP0001915_intracranial_hemorrhage0.95959925
112MP0003183_abnormal_peptide_metabolism0.95414388
113MP0003868_abnormal_feces_composition0.95410640
114MP0004510_myositis0.94466355
115MP0002735_abnormal_chemical_nociception0.94275994
116MP0009643_abnormal_urine_homeostasis0.94184591
117MP0010155_abnormal_intestine_physiology0.94020149
118MP0003631_nervous_system_phenotype0.93515395
119MP0002233_abnormal_nose_morphology0.92094864
120MP0000598_abnormal_liver_morphology0.91986266
121MP0000026_abnormal_inner_ear0.91869626
122MP0003045_fibrosis0.91839633
123MP0005584_abnormal_enzyme/coenzyme_acti0.89212229
124MP0001299_abnormal_eye_distance/0.86249150
125MP0005636_abnormal_mineral_homeostasis0.83983957
126MP0009764_decreased_sensitivity_to0.83837931
127MP0005448_abnormal_energy_balance0.83063247
128MP0008260_abnormal_autophagy0.82786365
129MP0008775_abnormal_heart_ventricle0.82017275
130MP0005195_abnormal_posterior_eye0.81696577
131MP0009642_abnormal_blood_homeostasis0.81635738
132MP0003123_paternal_imprinting0.81633388
133MP0005025_abnormal_response_to0.79941348
134MP0002998_abnormal_bone_remodeling0.79742122
135MP0005379_endocrine/exocrine_gland_phen0.79610710
136MP0005410_abnormal_fertilization0.78501567
137MP0002971_abnormal_brown_adipose0.77980833
138MP0009115_abnormal_fat_cell0.76964085
139MP0003453_abnormal_keratinocyte_physiol0.76607979
140MP0001943_abnormal_respiration0.76284561
141MP0002419_abnormal_innate_immunity0.75739960
142MP0001533_abnormal_skeleton_physiology0.74928148
143MP0000858_altered_metastatic_potential0.74919017
144MP0000762_abnormal_tongue_morphology0.74679080
145MP0000249_abnormal_blood_vessel0.74288808
146MP0004924_abnormal_behavior0.73939232
147MP0005386_behavior/neurological_phenoty0.73939232
148MP0001765_abnormal_ion_homeostasis0.73568998
149MP0001293_anophthalmia0.73052793
150MP0002876_abnormal_thyroid_physiology0.72128258
151MP0003300_gastrointestinal_ulcer0.69713008
152MP0009785_altered_susceptibility_to0.69567516
153MP0002078_abnormal_glucose_homeostasis0.67348977
154MP0003806_abnormal_nucleotide_metabolis0.67133709
155MP0002249_abnormal_larynx_morphology0.67089312
156MP0005535_abnormal_body_temperature0.66825312
157MP0004264_abnormal_extraembryonic_tissu0.66641369
158MP0001545_abnormal_hematopoietic_system0.66215982
159MP0005397_hematopoietic_system_phenotyp0.66215982
160MP0004947_skin_inflammation0.65838819
161MP0002933_joint_inflammation0.65346756
162MP0003633_abnormal_nervous_system0.64821941
163MP0002148_abnormal_hypersensitivity_rea0.64124716
164MP0001177_atelectasis0.64070628
165MP0002229_neurodegeneration0.63408283
166MP0001340_abnormal_eyelid_morphology0.62630330
167MP0005377_hearing/vestibular/ear_phenot0.62498349
168MP0003878_abnormal_ear_physiology0.62498349
169MP0004043_abnormal_pH_regulation0.62476683
170MP0002133_abnormal_respiratory_system0.62275735
171MP0005388_respiratory_system_phenotype0.62275735
172* MP0003172_abnormal_lysosome_physiology0.61764650
173MP0003091_abnormal_cell_migration0.60275606
174MP0006082_CNS_inflammation0.59922557
175MP0002089_abnormal_postnatal_growth/wei0.59108882
176MP0005375_adipose_tissue_phenotype0.58591581
177MP0002116_abnormal_craniofacial_bone0.58222631
178MP0004381_abnormal_hair_follicle0.57769350
179MP0009763_increased_sensitivity_to0.57454084
180MP0000747_muscle_weakness0.56982757
181MP0005334_abnormal_fat_pad0.56981052
182MP0000678_abnormal_parathyroid_gland0.56727675
183MP0001756_abnormal_urination0.56576916
184MP0001845_abnormal_inflammatory_respons0.53758107
185MP0002166_altered_tumor_susceptibility0.52326449
186MP0004130_abnormal_muscle_cell0.51701621
187MP0003866_abnormal_defecation0.51622151

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)9.08402741
2Joint hemorrhage (HP:0005261)6.25133731
3Prolonged partial thromboplastin time (HP:0003645)6.16181141
4Complement deficiency (HP:0004431)5.94096778
5Absent speech (HP:0001344)5.69247120
6Hypobetalipoproteinemia (HP:0003563)5.66536099
7Abnormality of aromatic amino acid family metabolism (HP:0004338)5.40708084
8Abnormality of monocarboxylic acid metabolism (HP:0010996)5.30931610
9Hemorrhage of the eye (HP:0011885)5.27032574
10Epiphyseal dysplasia (HP:0002656)5.26794651
11Systemic lupus erythematosus (HP:0002725)5.25751498
12Hyperventilation (HP:0002883)5.20890675
13Xanthomatosis (HP:0000991)5.10192646
14Microglossia (HP:0000171)4.89495131
15Abnormality of complement system (HP:0005339)4.75114092
16Glomerulonephritis (HP:0000099)4.46149271
17Delayed CNS myelination (HP:0002188)4.41469305
18Peripheral hypomyelination (HP:0007182)4.38322353
19Adrenal hypoplasia (HP:0000835)4.25679569
20Congenital sensorineural hearing impairment (HP:0008527)3.89126329
21Anophthalmia (HP:0000528)3.88292283
22Small epiphyses (HP:0010585)3.87676213
23Abnormality of the common coagulation pathway (HP:0010990)3.81567379
24Hypercholesterolemia (HP:0003124)3.80407306
25Hypolipoproteinemia (HP:0010981)3.75019736
26Blue irides (HP:0000635)3.57781096
27Hypoplasia of the iris (HP:0007676)3.51568076
28Alacrima (HP:0000522)3.47882399
29White forelock (HP:0002211)3.44746018
30Fetal akinesia sequence (HP:0001989)3.41162310
31Hyperlipoproteinemia (HP:0010980)3.34932655
32Patchy hypopigmentation of hair (HP:0011365)3.28756331
33Purpura (HP:0000979)3.25811220
34Broad-based gait (HP:0002136)3.25760940
35Morphological abnormality of the inner ear (HP:0011390)3.25686937
36Abnormality of the parathyroid morphology (HP:0011766)3.24161323
37Hypoalphalipoproteinemia (HP:0003233)3.16141641
38Akinesia (HP:0002304)3.15558172
39Decreased lacrimation (HP:0000633)3.12921974
40Relative macrocephaly (HP:0004482)3.11653018
41Intrahepatic cholestasis (HP:0001406)3.10970653
42Degeneration of the lateral corticospinal tracts (HP:0002314)3.04778642
43Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.04778642
44Neurofibrillary tangles (HP:0002185)3.04355123
45Abnormality of secondary sexual hair (HP:0009888)2.98800256
46Abnormality of the axillary hair (HP:0100134)2.98800256
47Conjugated hyperbilirubinemia (HP:0002908)2.98659049
48Decreased electroretinogram (ERG) amplitude (HP:0000654)2.93670109
49Myocardial infarction (HP:0001658)2.92323952
50Premature skin wrinkling (HP:0100678)2.90157291
51Amyloidosis (HP:0011034)2.89239186
52Spontaneous abortion (HP:0005268)2.88916733
53Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.81568480
54Mild short stature (HP:0003502)2.77300593
55Intention tremor (HP:0002080)2.76044624
56Bifid scrotum (HP:0000048)2.75451230
57Septo-optic dysplasia (HP:0100842)2.71750556
58Abnormality of glutamine family amino acid metabolism (HP:0010902)2.62489231
59Menorrhagia (HP:0000132)2.58550283
60Focal motor seizures (HP:0011153)2.58324133
61Sensory axonal neuropathy (HP:0003390)2.57574049
62Fat malabsorption (HP:0002630)2.54991076
63Abnormality of the corticospinal tract (HP:0002492)2.53978738
64Recurrent gram-negative bacterial infections (HP:0005420)2.49878241
65Epidermoid cyst (HP:0200040)2.49053584
66Gingival bleeding (HP:0000225)2.47866481
67Cupped ear (HP:0000378)2.47077458
68Abnormality of the lumbar spine (HP:0100712)2.46908826
69Broad ribs (HP:0000885)2.45172560
70Dysdiadochokinesis (HP:0002075)2.44412582
71Drooling (HP:0002307)2.41946812
72Excessive salivation (HP:0003781)2.41946812
73Hemiparesis (HP:0001269)2.38878789
74Nephritis (HP:0000123)2.38532119
75Urinary glycosaminoglycan excretion (HP:0003541)2.36784194
76Mucopolysacchariduria (HP:0008155)2.36784194
77Exercise-induced myalgia (HP:0003738)2.34913436
78Flat acetabular roof (HP:0003180)2.34617917
79Flared iliac wings (HP:0002869)2.34253529
80Abnormal auditory evoked potentials (HP:0006958)2.29000292
81Myokymia (HP:0002411)2.28888605
82Generalized myoclonic seizures (HP:0002123)2.27273147
83Heterochromia iridis (HP:0001100)2.27160573
84Abnormality of polysaccharide metabolism (HP:0011012)2.26345749
85Abnormality of glycosaminoglycan metabolism (HP:0004371)2.26345749
86Abnormality of mucopolysaccharide metabolism (HP:0011020)2.26345749
87Vascular calcification (HP:0004934)2.26173139
88Widely patent fontanelles and sutures (HP:0004492)2.25323365
89Optic nerve hypoplasia (HP:0000609)2.24973421
90Thrombophlebitis (HP:0004418)2.22941619
91Supranuclear gaze palsy (HP:0000605)2.22266241
92Hypophosphatemic rickets (HP:0004912)2.22204342
93Vaginal fistula (HP:0004320)2.20734911
94Mitral stenosis (HP:0001718)2.20592217
95Hydroxyprolinuria (HP:0003080)2.19428867
96Abnormality of proline metabolism (HP:0010907)2.19428867
97Abnormality of the Achilles tendon (HP:0005109)2.19101485
98Gastrointestinal stroma tumor (HP:0100723)2.18748016
99Abnormality of carpal bone ossification (HP:0006257)2.16191632
100Rickets (HP:0002748)2.14625736
101Ankle clonus (HP:0011448)2.13783359
102Acanthocytosis (HP:0001927)2.12566779
103Anosmia (HP:0000458)2.12189067
104Neoplasm of the peripheral nervous system (HP:0100007)2.11905431
105Retinal dysplasia (HP:0007973)2.11465872
106Skin nodule (HP:0200036)2.10790838
107Pulmonary embolism (HP:0002204)2.10475505
108Thin bony cortex (HP:0002753)2.09247849
109Abolished electroretinogram (ERG) (HP:0000550)2.06428929
110Spastic gait (HP:0002064)2.05741080
111Clumsiness (HP:0002312)2.05701299
112Pachygyria (HP:0001302)2.03865636
113Focal seizures (HP:0007359)2.02642917
114Widely spaced teeth (HP:0000687)2.01959671
115Diminished movement (HP:0002374)2.01854039
116Abnormality of the sella turcica (HP:0002679)2.00590881
117Scanning speech (HP:0002168)1.97010483
118Cerebral inclusion bodies (HP:0100314)1.96386142
119Abnormality of the intrinsic pathway (HP:0010989)1.96339023
120Absent hand (HP:0004050)1.95592137
121Barrel-shaped chest (HP:0001552)1.94723213
122Increased serum ferritin (HP:0003281)1.94220257
123Severe muscular hypotonia (HP:0006829)1.92585186
124Pulmonic stenosis (HP:0001642)1.91477242
125Hepatocellular carcinoma (HP:0001402)1.89103519
126Cortical dysplasia (HP:0002539)1.88899642
127Dysmetria (HP:0001310)1.87253488
128Potter facies (HP:0002009)1.86214567
129Facial shape deformation (HP:0011334)1.86214567
130Asymmetry of the thorax (HP:0001555)1.85743369
131Disproportionate short-trunk short stature (HP:0003521)1.84812439
132Pulmonary artery stenosis (HP:0004415)1.84770656
133Polygenic inheritance (HP:0010982)1.84615321
134Flat face (HP:0012368)1.84478837
135Chin dimple (HP:0010751)1.83876834
136Dysostosis multiplex (HP:0000943)1.83124090
137Cardiovascular calcification (HP:0011915)1.83015304
138Epileptic encephalopathy (HP:0200134)1.82897316
139Abnormality of salivation (HP:0100755)1.82149805
140Preauricular pit (HP:0004467)1.81092946
141Periauricular skin pits (HP:0100277)1.81092946
142Irregular epiphyses (HP:0010582)1.80660078
143Poor suck (HP:0002033)1.78098325
144Proximal placement of thumb (HP:0009623)1.77905586
145Adactyly (HP:0009776)1.77834008
146Submucous cleft hard palate (HP:0000176)1.77498042
147Delayed myelination (HP:0012448)1.77365858
148Hypoplasia of the odontoid process (HP:0003311)1.75368587
149Pigmentary retinal degeneration (HP:0001146)1.74801655
150Hypophosphatemia (HP:0002148)1.73089764
151Retrobulbar optic neuritis (HP:0100654)1.72882291
152Optic neuritis (HP:0100653)1.72882291
153Abnormality of glycine metabolism (HP:0010895)1.72584679
154Abnormality of serine family amino acid metabolism (HP:0010894)1.72584679
155Hypertriglyceridemia (HP:0002155)1.71221280
156Spastic tetraplegia (HP:0002510)1.71116235
157Gastroesophageal reflux (HP:0002020)1.70875244
158Orchitis (HP:0100796)1.70809230
159Gangrene (HP:0100758)1.70779343
160Abnormal enzyme/coenzyme activity (HP:0012379)1.70623147
161Febrile seizures (HP:0002373)1.70612683
162Atonic seizures (HP:0010819)1.69629176
163Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.68240218
164Metabolic alkalosis (HP:0200114)1.67779766
165Abnormal ossification of hand bones (HP:0005921)1.67353916
166Seborrheic dermatitis (HP:0001051)1.67337033
167Fair hair (HP:0002286)1.66899383
168Postural instability (HP:0002172)1.66836522
169Oligodactyly (hands) (HP:0001180)1.66734248
170Hyperglycinuria (HP:0003108)1.66583441
171Lower limb muscle weakness (HP:0007340)1.66182837
172Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.66113407
173Abnormality of alkaline phosphatase activity (HP:0004379)1.65199072
174Abnormal tarsal ossification (HP:0008369)1.64976377
175Increased cerebral lipofuscin (HP:0011813)1.64785325
176Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.64536278
177Enlarged epiphyses (HP:0010580)1.63633278
178Late onset (HP:0003584)1.63490200
179Abnormality of the thoracic spine (HP:0100711)1.63160122
180Abnormality of the periventricular white matter (HP:0002518)1.61834205
181Generalized aminoaciduria (HP:0002909)1.59403656
182Epistaxis (HP:0000421)1.57179918
183Elevated alkaline phosphatase (HP:0003155)1.56812637
184Protuberant abdomen (HP:0001538)1.56527471
185Bronchomalacia (HP:0002780)1.56262359
186Abnormality of iron homeostasis (HP:0011031)1.55254997
187Steatorrhea (HP:0002570)1.54927636
188Hyperammonemia (HP:0001987)1.54762656
189Mesangial abnormality (HP:0001966)1.54152536
190Abnormal hand bone ossification (HP:0010660)1.53975047
191Abnormality of glycolipid metabolism (HP:0010969)1.53326448
192Abnormality of glycosphingolipid metabolism (HP:0004343)1.53326448

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK6.93825360
2FES5.81377133
3TYRO35.74149234
4FGFR45.41846504
5TNIK4.63049887
6TRIB33.24274417
7RIPK13.21779257
8IRAK32.86388239
9ERN12.56196704
10FGFR32.49923128
11NTRK32.49498231
12PDGFRB2.43283372
13NEK62.36292189
14ICK2.31416293
15EPHA41.97744633
16CDK121.96213996
17PHKG21.95028848
18PHKG11.95028848
19CSK1.83461306
20PDGFRA1.82777263
21DYRK1B1.75929544
22MATK1.68477343
23IRAK21.64616638
24NTRK21.54872994
25MARK11.50211925
26EEF2K1.47153645
27MAP2K31.46863375
28PBK1.40656529
29MAP3K111.31762500
30EPHB11.28040602
31IRAK11.27364251
32MAPK131.25650287
33PKN21.20708565
34PKN11.20495335
35ERBB31.17416791
36GRK71.16646201
37MAP3K11.15958080
38TAOK21.15255380
39WNK41.14891086
40TBK11.12525734
41IRAK41.12341018
42MAPK111.10437433
43MAPK151.08676587
44MAP3K71.02336547
45MAP3K41.01277150
46PIK3CA1.00464933
47NTRK10.99928655
48MAP3K140.98446553
49MAP4K10.94543051
50TAOK10.94421313
51BLK0.93389183
52STK390.93007768
53ZAP700.90533628
54SMG10.89667505
55PDK10.89006601
56MAPKAPK50.87751790
57FGR0.87624822
58MAP2K60.86534886
59MAP3K30.86526425
60TYK20.82778916
61MAPK120.78893138
62MAPK70.77624586
63OXSR10.77468931
64CHUK0.77354471
65ROCK10.75336978
66ERBB40.75275800
67SIK10.74512916
68GRK10.74096344
69INSR0.72799071
70PTK60.71508348
71DDR20.71325065
72DAPK20.70635796
73SGK30.69540630
74MST1R0.68462315
75WNK30.68383611
76ROCK20.67743839
77FYN0.67474700
78CAMK1D0.67402362
79BMX0.66760953
80GSK3A0.65028582
81STK240.64181918
82SIK20.63830237
83PNCK0.63221274
84YES10.61962387
85PRKCQ0.61570445
86CDK50.61121388
87MAP3K20.60811993
88LCK0.60624359
89RET0.59901319
90MTOR0.59271067
91NME10.59220512
92KSR20.58082120
93IKBKB0.57720508
94UHMK10.57239372
95ADRBK20.56752321
96CDK60.56176055
97RIPK40.56030981
98SGK20.54084170
99MAP2K20.53326256
100CAMK1G0.52971897
101PRKACG0.52327859
102CSF1R0.52259611
103MUSK0.52083646
104CAMK40.51688016
105LYN0.51172416
106PRPF4B0.51039453
107MINK10.50667756
108LIMK10.50120244
109PRKAA10.49999074
110ERBB20.48696049
111CAMKK10.47905412
112PTK20.47876071
113GRK60.47330823
114ABL20.46856091
115EPHB20.46134680
116SRC0.45927458
117CAMK2A0.45095152
118RPS6KA30.44522982
119PLK20.43400303
120TNK20.43260180
121IKBKE0.41664532
122FGFR10.41092873
123HIPK20.41006404
124MAPK100.40447264
125PDK20.40104103
126PRKG20.40082681
127ALK0.40068314
128IGF1R0.39435112
129PRKCG0.39244872
130PRKAA20.39046679
131PRKD30.37652503
132CDC42BPA0.37198272
133DMPK0.36650528
134MAP3K50.36298227
135PRKCE0.36250743
136PAK30.35713653
137LMTK20.35461485
138RPS6KB10.35033020
139JAK20.34942963
140STK110.34611381
141MARK20.34136880
142SGK10.34018274
143PAK60.33682885
144MAP2K70.33573578
145PRKACA0.32775341
146BMPR20.32466472
147WNK10.30993194
148MAP2K40.29640848
149CSNK1D0.29559022
150CDK30.29539168
151EIF2AK20.28573543
152CDK80.27710856
153PDPK10.26765670
154PRKG10.26529996
155PRKACB0.26164561
156SGK2230.24970561
157SGK4940.24970561
158ADRBK10.24222591
159HCK0.23994186
160BTK0.22946873

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.21975564
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005324.19452987
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.38396082
4Cell adhesion molecules (CAMs)_Homo sapiens_hsa045142.81875544
5Glutamatergic synapse_Homo sapiens_hsa047242.80336534
6Arginine biosynthesis_Homo sapiens_hsa002202.75294259
7Prion diseases_Homo sapiens_hsa050202.63455169
8Nicotine addiction_Homo sapiens_hsa050332.58377574
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.52762873
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.45377815
11Cyanoamino acid metabolism_Homo sapiens_hsa004602.38871741
12Ether lipid metabolism_Homo sapiens_hsa005652.37580456
13Histidine metabolism_Homo sapiens_hsa003402.32619866
14Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.31709154
15Axon guidance_Homo sapiens_hsa043602.30134720
16Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.27341808
17PPAR signaling pathway_Homo sapiens_hsa033202.20405533
18Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.08419912
19Phenylalanine metabolism_Homo sapiens_hsa003602.07444245
20Fat digestion and absorption_Homo sapiens_hsa049751.99910631
21Cholinergic synapse_Homo sapiens_hsa047251.99757627
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.93566394
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.90453757
24Bile secretion_Homo sapiens_hsa049761.90154338
25* Other glycan degradation_Homo sapiens_hsa005111.88567491
26Staphylococcus aureus infection_Homo sapiens_hsa051501.81195368
27Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.79816028
28Caffeine metabolism_Homo sapiens_hsa002321.74530526
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.74004196
30Morphine addiction_Homo sapiens_hsa050321.71432530
31Long-term depression_Homo sapiens_hsa047301.67362501
32Chemical carcinogenesis_Homo sapiens_hsa052041.66601702
33Salivary secretion_Homo sapiens_hsa049701.64282284
34Maturity onset diabetes of the young_Homo sapiens_hsa049501.60001679
35Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.53400811
36Tyrosine metabolism_Homo sapiens_hsa003501.53136794
37Choline metabolism in cancer_Homo sapiens_hsa052311.51403759
38Gastric acid secretion_Homo sapiens_hsa049711.51389419
39Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.50581361
40Amphetamine addiction_Homo sapiens_hsa050311.50561120
41Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.49551155
42GABAergic synapse_Homo sapiens_hsa047271.49451491
43Drug metabolism - other enzymes_Homo sapiens_hsa009831.47839699
44Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.45605822
45Circadian entrainment_Homo sapiens_hsa047131.45534097
46Steroid hormone biosynthesis_Homo sapiens_hsa001401.44792417
47Cocaine addiction_Homo sapiens_hsa050301.43514759
48Serotonergic synapse_Homo sapiens_hsa047261.40073418
49Starch and sucrose metabolism_Homo sapiens_hsa005001.36460152
50Gap junction_Homo sapiens_hsa045401.36145320
51Dopaminergic synapse_Homo sapiens_hsa047281.35018947
52Viral myocarditis_Homo sapiens_hsa054161.33430172
53Steroid biosynthesis_Homo sapiens_hsa001001.33033783
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.32804479
55GnRH signaling pathway_Homo sapiens_hsa049121.30468564
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.29405933
57Fatty acid elongation_Homo sapiens_hsa000621.25896597
58Fructose and mannose metabolism_Homo sapiens_hsa000511.24428394
59ABC transporters_Homo sapiens_hsa020101.23564604
60Olfactory transduction_Homo sapiens_hsa047401.22699898
61Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17174267
62Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.16792276
63Renin secretion_Homo sapiens_hsa049241.16391735
64Phospholipase D signaling pathway_Homo sapiens_hsa040721.15299885
65Butanoate metabolism_Homo sapiens_hsa006501.14926812
66Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.12909838
67Renin-angiotensin system_Homo sapiens_hsa046141.12319055
68ECM-receptor interaction_Homo sapiens_hsa045121.10423813
69Tryptophan metabolism_Homo sapiens_hsa003801.08839083
70Pertussis_Homo sapiens_hsa051331.04467101
71Sphingolipid signaling pathway_Homo sapiens_hsa040711.03182567
72Oxytocin signaling pathway_Homo sapiens_hsa049211.00550067
73Long-term potentiation_Homo sapiens_hsa047200.98901962
74Calcium signaling pathway_Homo sapiens_hsa040200.98546098
75Vascular smooth muscle contraction_Homo sapiens_hsa042700.97280466
76Dorso-ventral axis formation_Homo sapiens_hsa043200.97162820
77Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96680262
78MicroRNAs in cancer_Homo sapiens_hsa052060.95448021
79Sulfur relay system_Homo sapiens_hsa041220.95128368
80Aldosterone synthesis and secretion_Homo sapiens_hsa049250.93451541
81Glioma_Homo sapiens_hsa052140.92150133
82Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.91855815
83Collecting duct acid secretion_Homo sapiens_hsa049660.91551260
84Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90866277
85Focal adhesion_Homo sapiens_hsa045100.87894544
86Insulin secretion_Homo sapiens_hsa049110.86998171
87Biosynthesis of amino acids_Homo sapiens_hsa012300.86605737
88Adipocytokine signaling pathway_Homo sapiens_hsa049200.85809457
89Fatty acid biosynthesis_Homo sapiens_hsa000610.85274809
90Vitamin B6 metabolism_Homo sapiens_hsa007500.84629948
91Mineral absorption_Homo sapiens_hsa049780.84014763
92Platelet activation_Homo sapiens_hsa046110.83525872
93Insulin resistance_Homo sapiens_hsa049310.82920437
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.82736480
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.82523317
96Galactose metabolism_Homo sapiens_hsa000520.80169670
97Synaptic vesicle cycle_Homo sapiens_hsa047210.79924676
98Thyroid hormone synthesis_Homo sapiens_hsa049180.76893641
99Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.75617282
100* Sphingolipid metabolism_Homo sapiens_hsa006000.75375501
101Cardiac muscle contraction_Homo sapiens_hsa042600.73578782
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71425324
103Taste transduction_Homo sapiens_hsa047420.71082693
104Hedgehog signaling pathway_Homo sapiens_hsa043400.70173380
105ErbB signaling pathway_Homo sapiens_hsa040120.67938116
106Peroxisome_Homo sapiens_hsa041460.67062454
107Ovarian steroidogenesis_Homo sapiens_hsa049130.66694317
108Dilated cardiomyopathy_Homo sapiens_hsa054140.65369261
109Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.65366937
110Renal cell carcinoma_Homo sapiens_hsa052110.64878959
111Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.64243175
112Estrogen signaling pathway_Homo sapiens_hsa049150.63788963
113Nitrogen metabolism_Homo sapiens_hsa009100.63656902
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.63626513
115Sulfur metabolism_Homo sapiens_hsa009200.61838156
116Tight junction_Homo sapiens_hsa045300.61257626
117Carbohydrate digestion and absorption_Homo sapiens_hsa049730.61231982
118cAMP signaling pathway_Homo sapiens_hsa040240.60289705
119Vitamin digestion and absorption_Homo sapiens_hsa049770.60192197
120Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58510887
121Fatty acid metabolism_Homo sapiens_hsa012120.57006291
122beta-Alanine metabolism_Homo sapiens_hsa004100.56347835
123Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.56149989
124Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.55424820
125Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.54521494
126cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53943203
127Phototransduction_Homo sapiens_hsa047440.53460327
128Pyruvate metabolism_Homo sapiens_hsa006200.52984818
129Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.52968020
130Carbon metabolism_Homo sapiens_hsa012000.52456610
131Pancreatic secretion_Homo sapiens_hsa049720.51085053
132Lysosome_Homo sapiens_hsa041420.50481757
133Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49494440
134Lysine degradation_Homo sapiens_hsa003100.49107333
135Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.47920407
136TNF signaling pathway_Homo sapiens_hsa046680.47220468
137T cell receptor signaling pathway_Homo sapiens_hsa046600.47152582
138Toll-like receptor signaling pathway_Homo sapiens_hsa046200.46962617
139Linoleic acid metabolism_Homo sapiens_hsa005910.45357325
140African trypanosomiasis_Homo sapiens_hsa051430.45331055
141MAPK signaling pathway_Homo sapiens_hsa040100.43421751
142Glycerolipid metabolism_Homo sapiens_hsa005610.42784625
143Vibrio cholerae infection_Homo sapiens_hsa051100.42068433
144AMPK signaling pathway_Homo sapiens_hsa041520.41695460
145Insulin signaling pathway_Homo sapiens_hsa049100.41639433
146Arachidonic acid metabolism_Homo sapiens_hsa005900.41423283
147VEGF signaling pathway_Homo sapiens_hsa043700.41171814
148Osteoclast differentiation_Homo sapiens_hsa043800.41119562
149Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.41077276
150Arginine and proline metabolism_Homo sapiens_hsa003300.40350415
151Retinol metabolism_Homo sapiens_hsa008300.40253955
152Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40032753
153Glycosaminoglycan degradation_Homo sapiens_hsa005310.39648829
154Basal cell carcinoma_Homo sapiens_hsa052170.38367133
155Oxidative phosphorylation_Homo sapiens_hsa001900.38101367
156Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.37989936
157Glucagon signaling pathway_Homo sapiens_hsa049220.37261070
158Ras signaling pathway_Homo sapiens_hsa040140.37149439
159Acute myeloid leukemia_Homo sapiens_hsa052210.36403671
160Protein digestion and absorption_Homo sapiens_hsa049740.35973571
161Fatty acid degradation_Homo sapiens_hsa000710.35591222
162Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34261829
163Leishmaniasis_Homo sapiens_hsa051400.34216559
164Alzheimers disease_Homo sapiens_hsa050100.32419741
165Glycerophospholipid metabolism_Homo sapiens_hsa005640.32354712
166Bladder cancer_Homo sapiens_hsa052190.30907755
167Non-small cell lung cancer_Homo sapiens_hsa052230.28446649
168Amoebiasis_Homo sapiens_hsa051460.28113735
169Hepatitis C_Homo sapiens_hsa051600.25648376
170Chronic myeloid leukemia_Homo sapiens_hsa052200.25341983
171Neurotrophin signaling pathway_Homo sapiens_hsa047220.24710766
172Notch signaling pathway_Homo sapiens_hsa043300.22326835
173mTOR signaling pathway_Homo sapiens_hsa041500.19861214
174Central carbon metabolism in cancer_Homo sapiens_hsa052300.19704334
175Pentose phosphate pathway_Homo sapiens_hsa000300.19520620
176NF-kappa B signaling pathway_Homo sapiens_hsa040640.19453778
177RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.19363009

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