NHLRC1

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 is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.07151851
2synaptic vesicle exocytosis (GO:0016079)4.93177652
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.75125939
4synaptic vesicle maturation (GO:0016188)4.71089639
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.68106498
6locomotory exploration behavior (GO:0035641)4.66108059
7vocalization behavior (GO:0071625)4.62504321
8lipopolysaccharide biosynthetic process (GO:0009103)4.58425093
9valine metabolic process (GO:0006573)4.56899790
10neuron cell-cell adhesion (GO:0007158)4.51234496
11modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.31400613
12positive regulation by organism of defense response of other organism involved in symbiotic interact4.31400613
13modulation by symbiont of host immune response (GO:0052553)4.31400613
14positive regulation by symbiont of host defense response (GO:0052509)4.31400613
15modulation by symbiont of host defense response (GO:0052031)4.31400613
16modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.31400613
17positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.30910354
18regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.30163890
19negative regulation of erythrocyte differentiation (GO:0045647)4.28571325
20protein localization to synapse (GO:0035418)4.25927182
21NIK/NF-kappaB signaling (GO:0038061)4.24641423
22heme biosynthetic process (GO:0006783)4.20882964
23layer formation in cerebral cortex (GO:0021819)4.20386527
24glutamate secretion (GO:0014047)4.19511010
25regulation of interferon-beta biosynthetic process (GO:0045357)4.14029182
26regulation of synaptic vesicle exocytosis (GO:2000300)4.05228029
27neuronal action potential propagation (GO:0019227)4.04724918
28regulation of synapse structural plasticity (GO:0051823)4.04110339
29negative regulation of B cell apoptotic process (GO:0002903)4.01148715
30response to host immune response (GO:0052572)4.00549277
31response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.00549277
32lipopolysaccharide metabolic process (GO:0008653)3.99236150
33regulation of glutamate receptor signaling pathway (GO:1900449)3.98168685
34heme metabolic process (GO:0042168)3.94338354
35chaperone mediated protein folding requiring cofactor (GO:0051085)3.90787572
36response to host (GO:0075136)3.78169668
37response to host defenses (GO:0052200)3.78169668
38response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.78169668
39exploration behavior (GO:0035640)3.76939463
40ionotropic glutamate receptor signaling pathway (GO:0035235)3.74096878
41dendritic spine morphogenesis (GO:0060997)3.73265988
42neurotransmitter secretion (GO:0007269)3.66842777
43regulation of synaptic vesicle transport (GO:1902803)3.63392408
44positive regulation of B cell differentiation (GO:0045579)3.58500479
45immunoglobulin mediated immune response (GO:0016064)3.58308394
46cerebellar Purkinje cell layer development (GO:0021680)3.57943590
47regulation of neuronal synaptic plasticity (GO:0048168)3.57318398
48positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.56235924
49regulation of long-term neuronal synaptic plasticity (GO:0048169)3.55890421
50neuron recognition (GO:0008038)3.53068436
51neuromuscular process controlling posture (GO:0050884)3.46159479
52cellular potassium ion homeostasis (GO:0030007)3.44546390
53gamma-aminobutyric acid transport (GO:0015812)3.43126931
54glutamate receptor signaling pathway (GO:0007215)3.42387712
55regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.39553803
56pentose-phosphate shunt (GO:0006098)3.38898909
57pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.38126833
58protoporphyrinogen IX biosynthetic process (GO:0006782)3.37319787
59protoporphyrinogen IX metabolic process (GO:0046501)3.36056311
60dendrite morphogenesis (GO:0048813)3.33558190
61neuron-neuron synaptic transmission (GO:0007270)3.30723095
62striatum development (GO:0021756)3.30485216
63regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24596264
64synaptic transmission, glutamatergic (GO:0035249)3.23601398
65neurotransmitter-gated ion channel clustering (GO:0072578)3.22876924
66transmission of nerve impulse (GO:0019226)3.22828392
67gamma-aminobutyric acid signaling pathway (GO:0007214)3.22006469
68axonal fasciculation (GO:0007413)3.21249037
69porphyrin-containing compound biosynthetic process (GO:0006779)3.20322274
70protein maturation by protein folding (GO:0022417)3.20139777
71neurotransmitter transport (GO:0006836)3.18786752
72negative regulation of synaptic transmission, GABAergic (GO:0032229)3.18476035
73Golgi transport vesicle coating (GO:0048200)3.18153569
74COPI coating of Golgi vesicle (GO:0048205)3.18153569
75regulation of dendritic spine morphogenesis (GO:0061001)3.17659991
76negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.16868561
77positive regulation of prostaglandin secretion (GO:0032308)3.16735049
78synaptic vesicle endocytosis (GO:0048488)3.15881519
79behavioral response to cocaine (GO:0048148)3.14097518
80sodium ion export (GO:0071436)3.13649265
812-oxoglutarate metabolic process (GO:0006103)3.12490593
82regulation of postsynaptic membrane potential (GO:0060078)3.12443861
83positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.10713429
84porphyrin-containing compound metabolic process (GO:0006778)3.10540273
85membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.10502114
86positive regulation of monocyte chemotaxis (GO:0090026)3.09208834
87central nervous system myelination (GO:0022010)3.08166353
88axon ensheathment in central nervous system (GO:0032291)3.08166353
89daunorubicin metabolic process (GO:0044597)3.08057828
90polyketide metabolic process (GO:0030638)3.08057828
91doxorubicin metabolic process (GO:0044598)3.08057828
92regulation of metalloenzyme activity (GO:0048552)3.07374483
93activation of protein kinase A activity (GO:0034199)3.04030540
94response to histamine (GO:0034776)3.03895926
95negative regulation of myeloid cell apoptotic process (GO:0033033)3.03526966
96antigen processing and presentation of endogenous antigen (GO:0019883)3.03072819
97regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.02604155
98synaptic vesicle docking involved in exocytosis (GO:0016081)3.00550693
99positive regulation of dendritic spine development (GO:0060999)2.99387449
100neuromuscular process controlling balance (GO:0050885)2.99141388
101membrane hyperpolarization (GO:0060081)2.98835129
102proline transport (GO:0015824)2.97830144
103regulation of voltage-gated calcium channel activity (GO:1901385)2.97233643
104negative regulation of lymphocyte apoptotic process (GO:0070229)2.96577360
105cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96105493
106positive regulation of membrane potential (GO:0045838)2.95451804
107regulation of neurotransmitter levels (GO:0001505)2.94043232
108long-term memory (GO:0007616)2.93826052
109pyrimidine nucleobase catabolic process (GO:0006208)2.93347784
110NADPH regeneration (GO:0006740)2.93083313
111positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.93015013
112positive regulation of synapse maturation (GO:0090129)2.91663881
113positive regulation of T cell migration (GO:2000406)2.91012999
114L-amino acid import (GO:0043092)2.90791624
115mitochondrial DNA replication (GO:0006264)2.90165357
116regulation of synaptic plasticity (GO:0048167)2.89977843
117mating behavior (GO:0007617)2.88678505
118oxaloacetate metabolic process (GO:0006107)2.87275280
119macrophage activation involved in immune response (GO:0002281)2.87126665
120regulation of B cell apoptotic process (GO:0002902)2.86879188
121response to pheromone (GO:0019236)2.86796009
122regulation of dendritic spine development (GO:0060998)2.86137774
123mannosylation (GO:0097502)2.85095462
124eosinophil chemotaxis (GO:0048245)2.84626229
125nucleotide salvage (GO:0043173)2.83746296
126negative regulation of microtubule polymerization (GO:0031115)2.83165315
127cellular response to thyroid hormone stimulus (GO:0097067)2.82924631
128proline biosynthetic process (GO:0006561)2.82906481
129glucose catabolic process (GO:0006007)2.81980193
130cell communication by electrical coupling (GO:0010644)2.81826388
131negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.81695625
132positive regulation of potassium ion transmembrane transport (GO:1901381)2.81509631
133G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.81187178
134detection of calcium ion (GO:0005513)2.80962424
135positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.79932910
136synapse assembly (GO:0007416)2.79724107
137regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.78685196
138purinergic nucleotide receptor signaling pathway (GO:0035590)2.78309208
139synapse organization (GO:0050808)2.77583375
140regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.76341068
141long-term synaptic potentiation (GO:0060291)2.75416113
142regulation of mitochondrial membrane potential (GO:0051881)2.74683492
143purine ribonucleotide transport (GO:0015868)2.73645460
144positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.72844873
145prostanoid biosynthetic process (GO:0046457)2.72635182
146prostaglandin biosynthetic process (GO:0001516)2.72635182
147tetrapyrrole biosynthetic process (GO:0033014)2.72617746
148membrane depolarization (GO:0051899)2.72579832
149neuronal ion channel clustering (GO:0045161)2.72296942
150regulation of neurotransmitter secretion (GO:0046928)2.72146026
151proteasome assembly (GO:0043248)2.72059300
152positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.71790814
153positive regulation of synaptic transmission, GABAergic (GO:0032230)2.71285391
154regulation of synaptic transmission, glutamatergic (GO:0051966)2.71041661
155neuromuscular process (GO:0050905)2.70758153
156central nervous system projection neuron axonogenesis (GO:0021952)2.70588789
157presynaptic membrane assembly (GO:0097105)2.69892542
158receptor guanylyl cyclase signaling pathway (GO:0007168)2.69144176
159cerebellar Purkinje cell differentiation (GO:0021702)2.69012782
160calcium-mediated signaling using intracellular calcium source (GO:0035584)2.68576017
161regulation of glutamate secretion (GO:0014048)2.68382247
162response to auditory stimulus (GO:0010996)2.68248877
163regulation of protein kinase A signaling (GO:0010738)2.68016558
164adult walking behavior (GO:0007628)2.67524553
165synaptic vesicle transport (GO:0048489)2.67400226
166establishment of synaptic vesicle localization (GO:0097480)2.67400226
167pyrimidine nucleoside salvage (GO:0043097)2.67171604
168pyrimidine-containing compound salvage (GO:0008655)2.67171604
169regulation of T cell chemotaxis (GO:0010819)2.67014955
170positive regulation of T cell chemotaxis (GO:0010820)2.67014955
171clathrin coat assembly (GO:0048268)2.66953487
172aminoglycoside antibiotic metabolic process (GO:0030647)2.66443973
173regulation of vesicle fusion (GO:0031338)2.66293867
174positive regulation of T cell apoptotic process (GO:0070234)2.65856852
175Arp2/3 complex-mediated actin nucleation (GO:0034314)2.65666494
176B cell mediated immunity (GO:0019724)2.65058404
177regulation of monocyte differentiation (GO:0045655)2.62873500
178regulation of T cell migration (GO:2000404)2.60224518
179tricarboxylic acid metabolic process (GO:0072350)2.59698727
180negative regulation of leukocyte apoptotic process (GO:2000107)2.59667127
181nucleoside salvage (GO:0043174)2.57670357
182positive regulation of gamma-delta T cell activation (GO:0046645)2.56752524
183pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.56526729
184pinocytosis (GO:0006907)2.55599628
185mitochondrial calcium ion transport (GO:0006851)2.55392638
186mitochondrial genome maintenance (GO:0000002)2.54137652
187response to thyroid hormone (GO:0097066)2.53843523
188extracellular fibril organization (GO:0043206)2.53691160
189eosinophil migration (GO:0072677)2.53041926
190regulation of prostaglandin secretion (GO:0032306)2.52168129
191pyrimidine nucleotide catabolic process (GO:0006244)2.52045305
192positive thymic T cell selection (GO:0045059)2.52041587
193GTP biosynthetic process (GO:0006183)2.51803599
194hemoglobin metabolic process (GO:0020027)2.51283265
195epithelial cell differentiation involved in prostate gland development (GO:0060742)2.49641458
196glycoside metabolic process (GO:0016137)2.49087044
197adenine nucleotide transport (GO:0051503)2.49073909
198mitotic nuclear envelope reassembly (GO:0007084)2.47748049
199nuclear envelope reassembly (GO:0031468)2.47748049
200purinergic receptor signaling pathway (GO:0035587)2.47406229

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.75020462
2BP1_19119308_ChIP-ChIP_Hs578T_Human3.93685713
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.33072114
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.21360313
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.18609190
6JARID2_20064375_ChIP-Seq_MESCs_Mouse3.06240812
7GBX2_23144817_ChIP-Seq_PC3_Human2.97503614
8IRF8_22096565_ChIP-ChIP_GC-B_Human2.93077553
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.79365340
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.72871340
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.69553479
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.69553479
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.67316561
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.63892612
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60966141
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.60042850
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.59747652
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.59475005
19SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59057909
20RARB_27405468_Chip-Seq_BRAIN_Mouse2.57862715
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.57117694
22REST_21632747_ChIP-Seq_MESCs_Mouse2.55952633
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.55765344
24EZH2_27304074_Chip-Seq_ESCs_Mouse2.50176673
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.38376226
26EZH2_27294783_Chip-Seq_ESCs_Mouse2.33672706
27DROSHA_22980978_ChIP-Seq_HELA_Human2.31779093
28ZNF263_19887448_ChIP-Seq_K562_Human2.27331962
29JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.23840515
30NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.22709013
31* REST_18959480_ChIP-ChIP_MESCs_Mouse2.20589288
32EED_16625203_ChIP-ChIP_MESCs_Mouse2.17930294
33AR_21572438_ChIP-Seq_LNCaP_Human2.16337508
34E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.15912428
35VDR_21846776_ChIP-Seq_THP-1_Human2.12903795
36RNF2_27304074_Chip-Seq_ESCs_Mouse2.12169184
37TAF15_26573619_Chip-Seq_HEK293_Human2.07852517
38IKZF1_21737484_ChIP-ChIP_HCT116_Human2.00820417
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.96236092
40MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.95493756
41NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92415192
42CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.91852984
43LXR_22292898_ChIP-Seq_THP-1_Human1.90051376
44FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.86603722
45HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.84976176
46* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.84769658
47ZNF274_21170338_ChIP-Seq_K562_Hela1.80603952
48CTBP1_25329375_ChIP-Seq_LNCAP_Human1.80480401
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.79473873
50ELK3_25401928_ChIP-Seq_HUVEC_Human1.77047240
51ELF1_17652178_ChIP-ChIP_JURKAT_Human1.76192675
52RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.76083340
53MYC_22102868_ChIP-Seq_BL_Human1.73444426
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.68723291
55ERG_21242973_ChIP-ChIP_JURKAT_Human1.68535508
56SRF_21415370_ChIP-Seq_HL-1_Mouse1.66945045
57ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.65826703
58* MYC_18555785_ChIP-Seq_MESCs_Mouse1.64098158
59MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.63597525
60CIITA_25753668_ChIP-Seq_RAJI_Human1.63125936
61RARG_19884340_ChIP-ChIP_MEFs_Mouse1.62162405
62LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.58680453
63TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58660835
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54220014
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.54174943
66ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50571962
67CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.49847290
68CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.48715839
69SCL_19346495_ChIP-Seq_HPC-7_Human1.47898954
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.47543837
71ELF1_20517297_ChIP-Seq_JURKAT_Human1.46943574
72CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.45464303
73YY1_21170310_ChIP-Seq_MESCs_Mouse1.44961337
74* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44898850
75* RING1B_27294783_Chip-Seq_ESCs_Mouse1.43467841
76MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.43319418
77CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.42864807
78BCL6_27268052_Chip-Seq_Bcells_Human1.42576256
79ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.41605427
80PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.40258926
81DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.39099088
82SMAD4_21799915_ChIP-Seq_A2780_Human1.38966246
83* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38782698
84SRY_22984422_ChIP-ChIP_TESTIS_Rat1.38778404
85SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.38051165
86PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.37583883
87TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37232446
88NELFA_20434984_ChIP-Seq_ESCs_Mouse1.36737563
89ETS1_20019798_ChIP-Seq_JURKAT_Human1.36226997
90P68_20966046_ChIP-Seq_HELA_Human1.35224234
91LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.34764159
92BCOR_27268052_Chip-Seq_Bcells_Human1.34738949
93DCP1A_22483619_ChIP-Seq_HELA_Human1.34696824
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.34387263
95IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.33049430
96GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32885741
97RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31310086
98CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.30946029
99TET1_21451524_ChIP-Seq_MESCs_Mouse1.30801482
100IRF8_21731497_ChIP-ChIP_J774_Mouse1.29839221
101NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28816841
102SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.28494343
103XRN2_22483619_ChIP-Seq_HELA_Human1.28382228
104BMI1_23680149_ChIP-Seq_NPCS_Mouse1.27762463
105* CTCF_21964334_Chip-Seq_Bcells_Human1.27306525
106* SOX2_21211035_ChIP-Seq_LN229_Gbm1.27204230
107GATA1_22383799_ChIP-Seq_G1ME_Mouse1.27199933
108* CTCF_18555785_ChIP-Seq_MESCs_Mouse1.27145733
109ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.26718605
110OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26717332
111SPI1_23547873_ChIP-Seq_NB4_Human1.26597245
112GABP_19822575_ChIP-Seq_HepG2_Human1.26591634
113* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.25067831
114GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.24810919
115MYB_21317192_ChIP-Seq_ERMYB_Mouse1.24742534
116CBX2_27304074_Chip-Seq_ESCs_Mouse1.24705512
117P300_19829295_ChIP-Seq_ESCs_Human1.24698276
118THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24611448
119ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24344016
120VDR_24763502_ChIP-Seq_THP-1_Human1.24154240
121RACK7_27058665_Chip-Seq_MCF-7_Human1.23904242
122SMAD3_21741376_ChIP-Seq_EPCs_Human1.22784017
123GATA1_19941827_ChIP-Seq_MEL_Mouse1.21883802
124THAP11_20581084_ChIP-Seq_MESCs_Mouse1.21754537
125RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21487336
126IGF1R_20145208_ChIP-Seq_DFB_Human1.20505936
127CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.20348878
128STAT4_19710469_ChIP-ChIP_TH1__Mouse1.20160337
129* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.19741298
130DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17770568
131P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16802727
132UTX_26944678_Chip-Seq_JUKART_Human1.16484134
133AR_25329375_ChIP-Seq_VCAP_Human1.15638034
134MAF_26560356_Chip-Seq_TH1_Human1.14852945
135STAT3_1855785_ChIP-Seq_MESCs_Mouse1.14753679
136SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14665780
137* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.13430986
138TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12809869
139MAF_26560356_Chip-Seq_TH2_Human1.12145602
140STAT3_23295773_ChIP-Seq_U87_Human1.12072339
141ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.11862762
142RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.11398828
143RUNX1_22412390_ChIP-Seq_EML_Mouse1.11383133
144* CTCF_26484167_Chip-Seq_Bcells_Mouse1.11330144
145PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10854658
146GATA2_22383799_ChIP-Seq_G1ME_Mouse1.10606120
147TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.10549115
148SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.10259058
149KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09991751
150NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.09789301
151PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.09487427
152PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09363911
153RNF2_27304074_Chip-Seq_NSC_Mouse1.08189943
154RING1B_27294783_Chip-Seq_NPCs_Mouse1.07954807
155BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.07382194
156ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06783506
157WT1_25993318_ChIP-Seq_PODOCYTE_Human1.05606546
158AR_19668381_ChIP-Seq_PC3_Human1.05431051
159KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.05416006
160HIF1A_21447827_ChIP-Seq_MCF-7_Human1.04906075
161CTCF_27219007_Chip-Seq_Bcells_Human1.04608035
162* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.04577246
163PIAS1_25552417_ChIP-Seq_VCAP_Human1.04375414
164BRD4_27068464_Chip-Seq_AML-cells_Mouse1.03886629
165P300_27268052_Chip-Seq_Bcells_Human1.03820207
166WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.03808615
167STAT1_20625510_ChIP-Seq_HELA_Human1.03665293
168CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.03152186
169CREB1_15753290_ChIP-ChIP_HEK293T_Human1.02742017
170UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02212804
171CTCF_27219007_Chip-Seq_ERYTHROID_Human1.02177251
172CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02095210
173FUS_26573619_Chip-Seq_HEK293_Human1.01283545
174TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99609139
175ARNT_22903824_ChIP-Seq_MCF-7_Human0.99564723
176EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.97779188
177KDM2B_26808549_Chip-Seq_K562_Human0.97310256
178MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96718371
179BCAT_22108803_ChIP-Seq_LS180_Human0.95926645
180TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94135171
181ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93144297
182NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93027067
183* TET1_21490601_ChIP-Seq_MESCs_Mouse0.92855333
184OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91582168
185YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91112815
186TCF4_23295773_ChIP-Seq_U87_Human0.91072038
187TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90988769
188PRDM14_20953172_ChIP-Seq_ESCs_Human0.89759022
189AHR_22903824_ChIP-Seq_MCF-7_Human0.89439317
190VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87716121
191RUNX2_22187159_ChIP-Seq_PCA_Human0.87695475
192POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87205860
193* JUN_21703547_ChIP-Seq_K562_Human0.84107857
194SMAD4_21741376_ChIP-Seq_HESCs_Human0.81882539
195GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81316041
196SMAD3_21741376_ChIP-Seq_ESCs_Human0.80246186
197MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.80196797
198TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79971238
199EP300_21415370_ChIP-Seq_HL-1_Mouse0.79819306
200TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78684165

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.11027556
2MP0003880_abnormal_central_pattern4.29265471
3MP0003635_abnormal_synaptic_transmissio3.75182885
4MP0004270_analgesia3.72529524
5MP0005451_abnormal_body_composition3.48310832
6MP0009840_abnormal_foam_cell3.38554255
7MP0005058_abnormal_lysosome_morphology3.19510695
8MP0009745_abnormal_behavioral_response3.14031742
9MP0003191_abnormal_cellular_cholesterol3.10100237
10MP0002064_seizures3.04059852
11MP0003656_abnormal_erythrocyte_physiolo3.00760681
12MP0002063_abnormal_learning/memory/cond2.98840464
13MP0001545_abnormal_hematopoietic_system2.97676593
14MP0005397_hematopoietic_system_phenotyp2.97676593
15MP0003806_abnormal_nucleotide_metabolis2.62881524
16MP0002572_abnormal_emotion/affect_behav2.57361725
17MP0002272_abnormal_nervous_system2.56663392
18MP0001486_abnormal_startle_reflex2.54929908
19MP0001968_abnormal_touch/_nociception2.52996261
20MP0009046_muscle_twitch2.47009560
21MP0001529_abnormal_vocalization2.43643516
22MP0005423_abnormal_somatic_nervous2.43371469
23MP0006276_abnormal_autonomic_nervous2.41821519
24MP0003329_amyloid_beta_deposits2.35099167
25MP0001440_abnormal_grooming_behavior2.28590933
26MP0002734_abnormal_mechanical_nocicepti2.24218201
27MP0002138_abnormal_hepatobiliary_system2.22415639
28MP0005464_abnormal_platelet_physiology2.15372849
29MP0002837_dystrophic_cardiac_calcinosis2.10953068
30MP0003186_abnormal_redox_activity2.10215264
31MP0000751_myopathy2.05306561
32MP0002132_abnormal_respiratory_system2.02916338
33MP0002877_abnormal_melanocyte_morpholog1.97353563
34MP0002733_abnormal_thermal_nociception1.92603216
35MP0002735_abnormal_chemical_nociception1.89749638
36MP0001835_abnormal_antigen_presentation1.89366203
37MP0000778_abnormal_nervous_system1.89167358
38MP0002067_abnormal_sensory_capabilities1.88522190
39MP0003183_abnormal_peptide_metabolism1.88225194
40MP0002184_abnormal_innervation1.87046160
41MP0002736_abnormal_nociception_after1.86329324
42MP0002909_abnormal_adrenal_gland1.85280035
43MP0005671_abnormal_response_to1.84951069
44MP0002148_abnormal_hypersensitivity_rea1.82304730
45MP0001970_abnormal_pain_threshold1.79449753
46MP0004924_abnormal_behavior1.78520638
47MP0005386_behavior/neurological_phenoty1.78520638
48MP0005165_increased_susceptibility_to1.77075216
49MP0009333_abnormal_splenocyte_physiolog1.77049269
50MP0003122_maternal_imprinting1.76115809
51MP0008260_abnormal_autophagy1.74962738
52MP0001853_heart_inflammation1.74414207
53MP0001542_abnormal_bone_strength1.73635297
54MP0002822_catalepsy1.72869555
55MP0009278_abnormal_bone_marrow1.71830803
56MP0003436_decreased_susceptibility_to1.70529508
57MP0004147_increased_porphyrin_level1.70301286
58MP0005645_abnormal_hypothalamus_physiol1.68723052
59MP0003879_abnormal_hair_cell1.66725949
60MP0000015_abnormal_ear_pigmentation1.65089752
61MP0001501_abnormal_sleep_pattern1.62088337
62MP0001984_abnormal_olfaction1.61079221
63MP0001485_abnormal_pinna_reflex1.57971647
64MP0004145_abnormal_muscle_electrophysio1.56707978
65MP0002557_abnormal_social/conspecific_i1.55987180
66MP0005000_abnormal_immune_tolerance1.55957132
67MP0001502_abnormal_circadian_rhythm1.55597939
68MP0002396_abnormal_hematopoietic_system1.53423918
69MP0005025_abnormal_response_to1.53235675
70MP0008438_abnormal_cutaneous_collagen1.53044654
71MP0001905_abnormal_dopamine_level1.52336030
72MP0008569_lethality_at_weaning1.51475446
73MP0002452_abnormal_antigen_presenting1.51259975
74MP0000920_abnormal_myelination1.49677001
75MP0002882_abnormal_neuron_morphology1.48053575
76MP0001800_abnormal_humoral_immune1.46878738
77MP0000689_abnormal_spleen_morphology1.46670631
78MP0000955_abnormal_spinal_cord1.46528245
79MP0004811_abnormal_neuron_physiology1.46258546
80MP0002723_abnormal_immune_serum1.45980080
81MP0002066_abnormal_motor_capabilities/c1.45945693
82MP0004142_abnormal_muscle_tone1.45698163
83MP0004885_abnormal_endolymph1.44094691
84MP0004858_abnormal_nervous_system1.42952215
85MP0002419_abnormal_innate_immunity1.41981787
86MP0004742_abnormal_vestibular_system1.41684778
87MP0009780_abnormal_chondrocyte_physiolo1.39342949
88MP0005257_abnormal_intraocular_pressure1.38009114
89MP0004510_myositis1.35210183
90MP0004215_abnormal_myocardial_fiber1.34611645
91MP0003633_abnormal_nervous_system1.33518599
92MP0008469_abnormal_protein_level1.33389610
93MP0000747_muscle_weakness1.32843173
94MP0005551_abnormal_eye_electrophysiolog1.32512453
95MP0002420_abnormal_adaptive_immunity1.32465832
96MP0001819_abnormal_immune_cell1.32166604
97MP0003137_abnormal_impulse_conducting1.31373620
98MP0001881_abnormal_mammary_gland1.30402436
99MP0002398_abnormal_bone_marrow1.27749546
100MP0002229_neurodegeneration1.25933852
101MP0000465_gastrointestinal_hemorrhage1.25555492
102MP0006036_abnormal_mitochondrial_physio1.25331082
103MP0005075_abnormal_melanosome_morpholog1.23641832
104MP0000604_amyloidosis1.22676948
105MP0009785_altered_susceptibility_to1.22202367
106MP0001727_abnormal_embryo_implantation1.22037584
107MP0000343_altered_response_to1.21345743
108MP0002429_abnormal_blood_cell1.21202603
109MP0001790_abnormal_immune_system1.20206147
110MP0005387_immune_system_phenotype1.20206147
111MP0003634_abnormal_glial_cell1.18013774
112MP0000716_abnormal_immune_system1.15084333
113MP0003303_peritoneal_inflammation1.14012605
114MP0001533_abnormal_skeleton_physiology1.11970933
115MP0003631_nervous_system_phenotype1.10788790
116MP0002638_abnormal_pupillary_reflex1.10426603
117MP0005646_abnormal_pituitary_gland1.10221616
118MP0004085_abnormal_heartbeat1.09816220
119MP0002722_abnormal_immune_system1.09390705
120MP0002405_respiratory_system_inflammati1.09213459
121MP0005636_abnormal_mineral_homeostasis1.09042508
122MP0002152_abnormal_brain_morphology1.07905191
123MP0003763_abnormal_thymus_physiology1.07648799
124MP0003690_abnormal_glial_cell1.07268560
125MP0005584_abnormal_enzyme/coenzyme_acti1.06150475
126MP0009764_decreased_sensitivity_to1.05011883
127MP0001243_abnormal_dermal_layer1.04503918
128MP0006082_CNS_inflammation1.00722896
129MP0002090_abnormal_vision1.00609755
130MP0002019_abnormal_tumor_incidence1.00296452
131MP0005535_abnormal_body_temperature0.99916531
132MP0000685_abnormal_immune_system0.99717405
133MP0000681_abnormal_thyroid_gland0.98452784
134MP0008874_decreased_physiological_sensi0.97673192
135MP0004036_abnormal_muscle_relaxation0.97448462
136MP0004808_abnormal_hematopoietic_stem0.97196174
137MP0009931_abnormal_skin_appearance0.96945656
138MP0002060_abnormal_skin_morphology0.96922894
139MP0003300_gastrointestinal_ulcer0.96658032
140MP0001845_abnormal_inflammatory_respons0.96227808
141MP0000750_abnormal_muscle_regeneration0.95919074
142MP0002069_abnormal_eating/drinking_beha0.95500407
143MP0004043_abnormal_pH_regulation0.92367693
144MP0002752_abnormal_somatic_nervous0.92069986
145MP0003718_maternal_effect0.90846559
146MP0005319_abnormal_enzyme/_coenzyme0.90562551
147MP0001963_abnormal_hearing_physiology0.89524114
148MP0001849_ear_inflammation0.86854888
149MP0000013_abnormal_adipose_tissue0.86606405
150MP0006072_abnormal_retinal_apoptosis0.86183563
151MP0005501_abnormal_skin_physiology0.82642266
152MP0001873_stomach_inflammation0.82601413
153MP0002139_abnormal_hepatobiliary_system0.81938259
154MP0008872_abnormal_physiological_respon0.81889624
155MP0000609_abnormal_liver_physiology0.81673212
156MP0005166_decreased_susceptibility_to0.81102088
157MP0004130_abnormal_muscle_cell0.80573806
158MP0010155_abnormal_intestine_physiology0.80269429
159MP0005390_skeleton_phenotype0.80078525
160MP0003787_abnormal_imprinting0.79750791
161MP0003632_abnormal_nervous_system0.79302818
162MP0004947_skin_inflammation0.78609124
163MP0004185_abnormal_adipocyte_glucose0.78261326
164MP0001661_extended_life_span0.75800383
165MP0003786_premature_aging0.75763550
166MP0000631_abnormal_neuroendocrine_gland0.74467566
167MP0003075_altered_response_to0.72676574
168MP0000749_muscle_degeneration0.72615366
169MP0008961_abnormal_basal_metabolism0.72225012
170MP0005620_abnormal_muscle_contractility0.72212728
171MP0005330_cardiomyopathy0.72021502
172MP0001958_emphysema0.71579687
173MP0003646_muscle_fatigue0.71315656
174MP0003172_abnormal_lysosome_physiology0.71147482
175MP0003279_aneurysm0.70962269
176MP0000627_abnormal_mammary_gland0.70556108
177MP0003566_abnormal_cell_adhesion0.70347685
178MP0009643_abnormal_urine_homeostasis0.69753117
179MP0000371_diluted_coat_color0.69739719
180MP0005253_abnormal_eye_physiology0.68256481
181MP0004233_abnormal_muscle_weight0.67264387
182MP0005499_abnormal_olfactory_system0.66814866
183MP0005394_taste/olfaction_phenotype0.66814866
184MP0004484_altered_response_of0.63123731
185MP0001943_abnormal_respiration0.61511072
186MP0005623_abnormal_meninges_morphology0.60971304
187MP0005187_abnormal_penis_morphology0.56296693
188MP0005409_darkened_coat_color0.54948315
189MP0002972_abnormal_cardiac_muscle0.54504633
190MP0000759_abnormal_skeletal_muscle0.52966949
191MP0001177_atelectasis0.52905752

Predicted human phenotypes

RankGene SetZ-score
1* Focal motor seizures (HP:0011153)6.26705391
2Myokymia (HP:0002411)5.73375821
3* Focal seizures (HP:0007359)5.18420123
4* Visual hallucinations (HP:0002367)5.07088513
5Abnormality of liposaccharide metabolism (HP:0010968)4.25242217
6Abnormality of glycosphingolipid metabolism (HP:0004343)4.25242217
7Abnormality of glycolipid metabolism (HP:0010969)4.25242217
8* Absence seizures (HP:0002121)4.19608336
9Microvesicular hepatic steatosis (HP:0001414)4.16112058
10Agammaglobulinemia (HP:0004432)3.96108254
11* Dialeptic seizures (HP:0011146)3.95981521
12Epileptic encephalopathy (HP:0200134)3.72016014
13Supranuclear gaze palsy (HP:0000605)3.68040716
14Nonimmune hydrops fetalis (HP:0001790)3.60294061
15Increased serum ferritin (HP:0003281)3.59465838
16Abnormality of the heme biosynthetic pathway (HP:0010472)3.55848666
17Decreased electroretinogram (ERG) amplitude (HP:0000654)3.54529780
18Atonic seizures (HP:0010819)3.46716913
19Cellulitis (HP:0100658)3.37362363
20Pheochromocytoma (HP:0002666)3.35731049
21Type I transferrin isoform profile (HP:0003642)3.34996330
22Neurofibrillary tangles (HP:0002185)3.34719183
23Ankle clonus (HP:0011448)3.24856152
24Cerebral inclusion bodies (HP:0100314)3.17747892
25Febrile seizures (HP:0002373)3.15335586
26Rhabdomyolysis (HP:0003201)3.15200068
27Progressive cerebellar ataxia (HP:0002073)3.11229985
28* Generalized tonic-clonic seizures (HP:0002069)3.10810636
29Termporal pattern (HP:0011008)3.06953734
30Insidious onset (HP:0003587)3.06953734
31Abnormality of iron homeostasis (HP:0011031)3.06852357
32Distal lower limb muscle weakness (HP:0009053)3.04694722
33Dysostosis multiplex (HP:0000943)3.04566504
34J-shaped sella turcica (HP:0002680)3.00738070
35Increased intramyocellular lipid droplets (HP:0012240)3.00439982
36Increased cerebral lipofuscin (HP:0011813)3.00335885
37Action tremor (HP:0002345)2.99740941
38Reduced antithrombin III activity (HP:0001976)2.98208794
39Spastic gait (HP:0002064)2.94706508
40Depression (HP:0000716)2.94698941
41Increased muscle lipid content (HP:0009058)2.93974020
42Abnormality of mucopolysaccharide metabolism (HP:0011020)2.92618971
43Abnormality of polysaccharide metabolism (HP:0011012)2.92618971
44Abnormality of glycosaminoglycan metabolism (HP:0004371)2.92618971
45Vacuolated lymphocytes (HP:0001922)2.88120156
46Dysmetria (HP:0001310)2.86461873
47Prolonged neonatal jaundice (HP:0006579)2.85928710
48Anxiety (HP:0000739)2.85262309
49Neuroendocrine neoplasm (HP:0100634)2.85161667
50Truncal ataxia (HP:0002078)2.84762878
51Hyperventilation (HP:0002883)2.81501912
52Abnormal protein glycosylation (HP:0012346)2.81122130
53Abnormal glycosylation (HP:0012345)2.81122130
54Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.81122130
55Abnormal protein N-linked glycosylation (HP:0012347)2.81122130
56Dysdiadochokinesis (HP:0002075)2.80351979
57Increased neuronal autofluorescent lipopigment (HP:0002074)2.79958580
58Broad-based gait (HP:0002136)2.77970871
59Peripheral hypomyelination (HP:0007182)2.75484479
60Poor eye contact (HP:0000817)2.73329800
61Urinary urgency (HP:0000012)2.70704261
62Vertebral compression fractures (HP:0002953)2.69730465
63Postural instability (HP:0002172)2.68444965
64Centrally nucleated skeletal muscle fibers (HP:0003687)2.68172699
65Reticulocytosis (HP:0001923)2.67029006
66Abnormality of the corticospinal tract (HP:0002492)2.66036078
67Abnormal eating behavior (HP:0100738)2.63672282
68Urinary glycosaminoglycan excretion (HP:0003541)2.63555462
69Mucopolysacchariduria (HP:0008155)2.63555462
70Impaired vibration sensation in the lower limbs (HP:0002166)2.61914495
71Exercise-induced myalgia (HP:0003738)2.61011723
72Impaired social interactions (HP:0000735)2.60469642
73Abnormal social behavior (HP:0012433)2.60469642
74Abnormality of transition element cation homeostasis (HP:0011030)2.60454840
75Failure to thrive in infancy (HP:0001531)2.56455819
76Progressive inability to walk (HP:0002505)2.53675046
77Mutism (HP:0002300)2.52075259
78Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.51645970
79Degeneration of the lateral corticospinal tracts (HP:0002314)2.51645970
80Decreased central vision (HP:0007663)2.51008862
81Hepatosplenomegaly (HP:0001433)2.46084815
82Distal lower limb amyotrophy (HP:0008944)2.44251146
83Gaze-evoked nystagmus (HP:0000640)2.40417414
84Intention tremor (HP:0002080)2.39342192
85Urinary bladder sphincter dysfunction (HP:0002839)2.38608423
86Generalized amyotrophy (HP:0003700)2.37648648
87Drooling (HP:0002307)2.35365216
88Excessive salivation (HP:0003781)2.35365216
89Sudden death (HP:0001699)2.31847739
90Polyphagia (HP:0002591)2.30999130
91Muscle hypertrophy of the lower extremities (HP:0008968)2.28958243
92Petechiae (HP:0000967)2.28160376
93Epileptiform EEG discharges (HP:0011182)2.24861416
94Amyotrophic lateral sclerosis (HP:0007354)2.24220137
95EEG with generalized epileptiform discharges (HP:0011198)2.23162284
96Loss of speech (HP:0002371)2.21166733
97Cerebral palsy (HP:0100021)2.20329279
98Torticollis (HP:0000473)2.19610334
99Premature rupture of membranes (HP:0001788)2.19407661
100Osteomyelitis (HP:0002754)2.18679623
101Mediastinal lymphadenopathy (HP:0100721)2.17857717
102Autoamputation (HP:0001218)2.17425665
103Scanning speech (HP:0002168)2.16998559
104Central scotoma (HP:0000603)2.16440412
105Dicarboxylic aciduria (HP:0003215)2.15560663
106Abnormality of dicarboxylic acid metabolism (HP:0010995)2.15560663
107Ragged-red muscle fibers (HP:0003200)2.15433814
108Recurrent viral infections (HP:0004429)2.15041509
109Fetal akinesia sequence (HP:0001989)2.14040862
110Hepatocellular necrosis (HP:0001404)2.13995583
111Asymmetric septal hypertrophy (HP:0001670)2.13282092
112Aplastic anemia (HP:0001915)2.13239830
113Abnormal number of erythroid precursors (HP:0012131)2.13185067
114Lower limb muscle weakness (HP:0007340)2.13065143
115Hypsarrhythmia (HP:0002521)2.12101357
116Increased serum pyruvate (HP:0003542)2.12013393
117Abnormality of glycolysis (HP:0004366)2.12013393
118Gastrointestinal stroma tumor (HP:0100723)2.11031754
119Abnormality of macrophages (HP:0004311)2.10976654
120Polycythemia (HP:0001901)2.10686868
121Clumsiness (HP:0002312)2.10638221
122Epistaxis (HP:0000421)2.08861822
123Amyloidosis (HP:0011034)2.07470024
124Elevated erythrocyte sedimentation rate (HP:0003565)2.07459041
125Calf muscle hypertrophy (HP:0008981)2.07004344
126Amblyopia (HP:0000646)2.05583772
127Decreased activity of mitochondrial respiratory chain (HP:0008972)2.05555086
128Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.05555086
129Cholelithiasis (HP:0001081)2.05478025
130Ventricular fibrillation (HP:0001663)2.04699948
131Neoplasm of the peripheral nervous system (HP:0100007)2.04230963
132Abnormal gallbladder physiology (HP:0012438)2.03420895
133Cholecystitis (HP:0001082)2.03420895
134Poor suck (HP:0002033)2.03352208
135Prolonged bleeding time (HP:0003010)2.02689837
136Nemaline bodies (HP:0003798)2.01057656
137Limb-girdle muscle atrophy (HP:0003797)2.01042134
138Achilles tendon contracture (HP:0001771)2.00808316
139Recurrent bronchitis (HP:0002837)1.99747354
140Oligomenorrhea (HP:0000876)1.98970936
141Akinesia (HP:0002304)1.98896591
142Hemiparesis (HP:0001269)1.97991002
143Cone-rod dystrophy (HP:0000548)1.97175353
144Clonus (HP:0002169)1.97006494
145Focal dystonia (HP:0004373)1.96471167
146Bradykinesia (HP:0002067)1.96379221
147Secondary amenorrhea (HP:0000869)1.95699838
148Abnormality of the lower motor neuron (HP:0002366)1.95603836
149Diplopia (HP:0000651)1.95093037
150Abnormality of binocular vision (HP:0011514)1.95093037
151Inability to walk (HP:0002540)1.94788935
152Rigidity (HP:0002063)1.94361897
153Skin rash (HP:0000988)1.93499798
154Neuronal loss in central nervous system (HP:0002529)1.92643323
155* Rapidly progressive (HP:0003678)1.92633096
156Limb dystonia (HP:0002451)1.92427800
157Hepatic necrosis (HP:0002605)1.92296502
158* Psychosis (HP:0000709)1.90139102
159Natal tooth (HP:0000695)1.89550667
160Papilledema (HP:0001085)1.89413714
161* Generalized myoclonic seizures (HP:0002123)1.89262658
162Acanthocytosis (HP:0001927)1.89160707
163Sensorimotor neuropathy (HP:0007141)1.88725844
164Genetic anticipation (HP:0003743)1.87273164
165Impaired smooth pursuit (HP:0007772)1.86136592
166Impaired vibratory sensation (HP:0002495)1.85865868
167Craniofacial dystonia (HP:0012179)1.85131669
168Postural tremor (HP:0002174)1.84800851
169Blue irides (HP:0000635)1.84119204
170Hamartoma of the eye (HP:0010568)1.83963736
171Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.82810922
172Hypoplasia of the brainstem (HP:0002365)1.82741055
173Aplasia/Hypoplasia of the brainstem (HP:0007362)1.82741055
174Abnormality of the calf musculature (HP:0001430)1.82705449
175Myoglobinuria (HP:0002913)1.82522214
176Meningitis (HP:0001287)1.82421938
177Hypergonadotropic hypogonadism (HP:0000815)1.80976268
178Abnormality of ocular smooth pursuit (HP:0000617)1.80869620
179Muscle fiber inclusion bodies (HP:0100299)1.80833872
180Hypokinesia (HP:0002375)1.80348647
181Prolonged QT interval (HP:0001657)1.80268951
182Delusions (HP:0000746)1.80173555
183Gingival bleeding (HP:0000225)1.79914651
184Onycholysis (HP:0001806)1.79897952
185Status epilepticus (HP:0002133)1.79365637
186Syncope (HP:0001279)1.78413814
187Abnormality of the Achilles tendon (HP:0005109)1.77603401
188Joint stiffness (HP:0001387)1.76139983
189Hyperbilirubinemia (HP:0002904)1.76057663
190Testicular atrophy (HP:0000029)1.75590468
191Cardiomegaly (HP:0001640)1.75355172
192Abnormality of cells of the erythroid lineage (HP:0012130)1.73522506
193Abnormality of skeletal muscle fiber size (HP:0012084)1.72965844
194Neoplasm of head and neck (HP:0012288)1.71814306
195Esophageal neoplasm (HP:0100751)1.71814306
196Abnormal gallbladder morphology (HP:0012437)1.71281126
197Abnormal platelet function (HP:0011869)1.71195976
198Impaired platelet aggregation (HP:0003540)1.71195976
199Thoracic kyphosis (HP:0002942)1.71049497

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.69720499
2NME24.59005313
3PIM23.91741098
4MAP3K93.90507552
5NTRK33.68321341
6SCYL23.43082843
7MAP3K123.37696369
8VRK23.27630011
9TESK23.06618016
10EPHA42.97697991
11MARK12.96085766
12MAP3K42.68260306
13TESK12.55907530
14BUB12.45357591
15PAK62.43373397
16KDR2.42282181
17PNCK2.39722572
18MINK12.36487361
19IRAK32.35301767
20MAP2K42.30436495
21NTRK22.25509515
22KSR22.11797655
23KSR11.97688567
24PHKG21.88726015
25PHKG11.88726015
26BCKDK1.86835339
27STK101.76394843
28MAP2K71.69007237
29TYRO31.67727174
30UHMK11.67057854
31JAK31.61537902
32MAPKAPK31.59147862
33NTRK11.54843955
34STK391.54143118
35TAOK21.53755858
36CDK191.52769540
37TBK11.51003540
38CDK51.49412527
39MAP4K21.44352976
40BLK1.43973532
41DAPK21.43635643
42TGFBR21.41157242
43ARAF1.41073574
44ABL21.40373824
45EPHA21.37116303
46MAP3K21.34720998
47PAK31.33655044
48MAP3K131.33635769
49OXSR11.31609861
50MOS1.30523962
51CASK1.27901074
52FES1.20902712
53SIK21.18069262
54SIK31.17534308
55CAMKK11.17525100
56FGFR21.15863371
57CAMKK21.14605301
58CAMK2A1.14146837
59MATK1.13473496
60CAMK2B1.13397944
61PRKD31.10935216
62MAPK131.10815954
63MUSK1.10407609
64RIPK41.07141430
65PBK1.05423085
66ZAP701.03199565
67CDK181.02854625
68TNIK1.02080504
69SMG11.01860504
70EIF2AK10.99473736
71MARK20.98968965
72MAP3K110.98424560
73CDK150.97947544
74GRK50.97608248
75CCNB10.97543796
76CDK140.96074904
77MAP3K80.95105462
78RAF10.92287516
79RET0.91534100
80PLK20.89319279
81TRPM70.89065206
82MAP3K10.88346150
83IKBKE0.86082271
84SYK0.85768870
85MAPKAPK50.85735335
86CDK11A0.85484314
87CAMK2D0.84279252
88DAPK10.84153025
89CAMK2G0.84125404
90MAP4K10.84098367
91TTN0.83848268
92LMTK20.82993818
93CAMK1G0.81461100
94BCR0.81230862
95PRKCG0.81036313
96FER0.80528326
97NEK10.80097495
98MAP2K30.78876154
99CAMK10.78669049
100IKBKB0.78621917
101AURKA0.76536773
102LATS20.76018756
103SGK2230.73516520
104SGK4940.73516520
105TAOK10.73055262
106TXK0.72361967
107CSNK1G20.71690355
108SIK10.71633193
109WNK40.70413728
110FGR0.69061743
111EPHB10.68765095
112PAK40.68594080
113RIPK10.67668036
114LRRK20.66018866
115PKN10.64563228
116MAPKAPK20.64471477
117RPS6KB20.63635503
118MAP3K70.63592170
119NME10.63294826
120PRKCH0.63275183
121ROCK20.63145734
122NUAK10.62879193
123PAK10.62515178
124STK110.62491047
125PINK10.62094989
126TYK20.61891139
127MAPK110.61840379
128CLK10.60181876
129GRK70.60076742
130PRPF4B0.58776724
131PTK2B0.58702150
132STK380.58314066
133BTK0.58177373
134SGK10.57192457
135DAPK30.56335014
136MAP3K30.56022528
137TRIB30.53389416
138ICK0.53014545
139LIMK10.50146310
140ILK0.49828565
141JAK20.48848132
142MAP3K60.48759891
143IRAK20.47615371
144PRKCE0.46013653
145DYRK1B0.45869861
146MST40.44821589
147MAPK120.44664528
148DYRK1A0.43885340
149OBSCN0.43238737
150PRKCI0.43086182
151FYN0.42865017
152RPS6KA30.41928782
153CAMK40.41434500
154CSF1R0.40967270
155LYN0.39815945
156TNK20.39114300
157PAK20.39016901
158PRKACA0.38306735
159MAPK100.38242385
160MAP2K10.37617269
161IRAK40.36974083
162PIM10.36755880
163PDPK10.36752621
164CSNK1G30.36091153
165MAP3K50.35845507
166ADRBK10.35807551
167MYLK0.35726446
168PRKCQ0.32599499
169GRK60.32421346
170CDK70.32214871
171BMX0.31272356
172CSNK2A20.30969776
173PRKG20.30933751
174TIE10.30128746
175ZAK0.26641482
176TEC0.26576475
177MAPK30.26092834
178MST1R0.24344603
179ITK0.24255546

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005113.38476210
2Nicotine addiction_Homo sapiens_hsa050333.16922777
3Synaptic vesicle cycle_Homo sapiens_hsa047212.82630417
4GABAergic synapse_Homo sapiens_hsa047272.76038163
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.42359411
6Glutamatergic synapse_Homo sapiens_hsa047242.34139584
7Allograft rejection_Homo sapiens_hsa053302.32672471
8Lysosome_Homo sapiens_hsa041422.30836775
9Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.30700530
10Circadian entrainment_Homo sapiens_hsa047132.30433654
11Olfactory transduction_Homo sapiens_hsa047402.29895231
12Morphine addiction_Homo sapiens_hsa050322.28275925
13Asthma_Homo sapiens_hsa053102.16815413
14Long-term potentiation_Homo sapiens_hsa047202.13665839
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.07254755
16Glycosaminoglycan degradation_Homo sapiens_hsa005312.06925069
17Autoimmune thyroid disease_Homo sapiens_hsa053202.05544029
18Pentose phosphate pathway_Homo sapiens_hsa000302.03224686
19Proteasome_Homo sapiens_hsa030502.03172560
20Primary immunodeficiency_Homo sapiens_hsa053402.00926027
21Amphetamine addiction_Homo sapiens_hsa050311.99385258
22Dopaminergic synapse_Homo sapiens_hsa047281.98763414
23Graft-versus-host disease_Homo sapiens_hsa053321.91066780
24Cardiac muscle contraction_Homo sapiens_hsa042601.89834130
25Salivary secretion_Homo sapiens_hsa049701.83778978
26Insulin secretion_Homo sapiens_hsa049111.83300543
27Antigen processing and presentation_Homo sapiens_hsa046121.81887092
28Sulfur relay system_Homo sapiens_hsa041221.73797842
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.72160212
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.71684003
31Gastric acid secretion_Homo sapiens_hsa049711.70378242
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.70320953
33Serotonergic synapse_Homo sapiens_hsa047261.68492762
34Cholinergic synapse_Homo sapiens_hsa047251.65986573
35Cocaine addiction_Homo sapiens_hsa050301.65213836
36Renin secretion_Homo sapiens_hsa049241.62898738
37Type I diabetes mellitus_Homo sapiens_hsa049401.62240153
38Oxidative phosphorylation_Homo sapiens_hsa001901.61021027
39N-Glycan biosynthesis_Homo sapiens_hsa005101.60558265
40Leishmaniasis_Homo sapiens_hsa051401.60163448
41Collecting duct acid secretion_Homo sapiens_hsa049661.59906903
42Long-term depression_Homo sapiens_hsa047301.58566536
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.57529098
44Base excision repair_Homo sapiens_hsa034101.57215917
45Galactose metabolism_Homo sapiens_hsa000521.55295766
46Carbon metabolism_Homo sapiens_hsa012001.55006977
47Hematopoietic cell lineage_Homo sapiens_hsa046401.52136487
48DNA replication_Homo sapiens_hsa030301.50864723
49Taste transduction_Homo sapiens_hsa047421.50505333
50Oxytocin signaling pathway_Homo sapiens_hsa049211.50166975
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49677025
52Aldosterone synthesis and secretion_Homo sapiens_hsa049251.48771608
53Parkinsons disease_Homo sapiens_hsa050121.46453890
54Phenylalanine metabolism_Homo sapiens_hsa003601.46282841
55Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.46131442
56Glutathione metabolism_Homo sapiens_hsa004801.45965511
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.43736907
58Viral myocarditis_Homo sapiens_hsa054161.42210502
59Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.40677854
60Nitrogen metabolism_Homo sapiens_hsa009101.39577141
61Pyrimidine metabolism_Homo sapiens_hsa002401.39243959
62Alzheimers disease_Homo sapiens_hsa050101.36462209
63Calcium signaling pathway_Homo sapiens_hsa040201.32556328
64Peroxisome_Homo sapiens_hsa041461.31500333
65Rheumatoid arthritis_Homo sapiens_hsa053231.31098977
66GnRH signaling pathway_Homo sapiens_hsa049121.29774355
67Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.28556140
68Toll-like receptor signaling pathway_Homo sapiens_hsa046201.24355072
69Herpes simplex infection_Homo sapiens_hsa051681.23104330
70Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22983562
71One carbon pool by folate_Homo sapiens_hsa006701.22133243
72Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20608953
73Gap junction_Homo sapiens_hsa045401.20512691
74Axon guidance_Homo sapiens_hsa043601.19075757
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.19069306
76Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.18747460
77Staphylococcus aureus infection_Homo sapiens_hsa051501.15800379
78NF-kappa B signaling pathway_Homo sapiens_hsa040641.15671810
79Vibrio cholerae infection_Homo sapiens_hsa051101.15342425
80Fructose and mannose metabolism_Homo sapiens_hsa000511.14259853
81Butanoate metabolism_Homo sapiens_hsa006501.13095139
82Phototransduction_Homo sapiens_hsa047441.09671708
83Biosynthesis of amino acids_Homo sapiens_hsa012301.08260574
84Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.07678133
85cAMP signaling pathway_Homo sapiens_hsa040241.06690864
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06467705
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.01451302
88Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.98883754
89Dilated cardiomyopathy_Homo sapiens_hsa054140.98482858
90Vascular smooth muscle contraction_Homo sapiens_hsa042700.98440729
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.96251981
92Tyrosine metabolism_Homo sapiens_hsa003500.94759399
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90909568
94Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.89088165
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.88955367
96Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.88436009
97Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.87797698
98RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.87717428
99Estrogen signaling pathway_Homo sapiens_hsa049150.87524092
100Purine metabolism_Homo sapiens_hsa002300.86127269
101Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82864748
102ErbB signaling pathway_Homo sapiens_hsa040120.82441731
103Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81662279
104Salmonella infection_Homo sapiens_hsa051320.81479009
105Tuberculosis_Homo sapiens_hsa051520.81276763
106Primary bile acid biosynthesis_Homo sapiens_hsa001200.81076521
107Phagosome_Homo sapiens_hsa041450.80539695
108Glioma_Homo sapiens_hsa052140.79167910
109Type II diabetes mellitus_Homo sapiens_hsa049300.78681928
110Folate biosynthesis_Homo sapiens_hsa007900.78354918
111Osteoclast differentiation_Homo sapiens_hsa043800.76695109
112SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76616119
113Drug metabolism - other enzymes_Homo sapiens_hsa009830.76203694
114Influenza A_Homo sapiens_hsa051640.75780790
115B cell receptor signaling pathway_Homo sapiens_hsa046620.75160134
116Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.73882446
117Bladder cancer_Homo sapiens_hsa052190.73452875
118Dorso-ventral axis formation_Homo sapiens_hsa043200.72833629
119Huntingtons disease_Homo sapiens_hsa050160.71737821
120Melanogenesis_Homo sapiens_hsa049160.71394740
121Phosphatidylinositol signaling system_Homo sapiens_hsa040700.70481534
122Phospholipase D signaling pathway_Homo sapiens_hsa040720.69273432
123Bile secretion_Homo sapiens_hsa049760.67658794
124Fatty acid degradation_Homo sapiens_hsa000710.67150492
125Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66134508
126VEGF signaling pathway_Homo sapiens_hsa043700.65993638
127Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63722976
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63627860
129Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62142191
130Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.61259771
131Pancreatic secretion_Homo sapiens_hsa049720.61100050
132Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60969166
133Apoptosis_Homo sapiens_hsa042100.60327230
134Arginine biosynthesis_Homo sapiens_hsa002200.60308989
135Shigellosis_Homo sapiens_hsa051310.60094851
136Choline metabolism in cancer_Homo sapiens_hsa052310.60072042
137Prion diseases_Homo sapiens_hsa050200.59057538
138Mismatch repair_Homo sapiens_hsa034300.58318441
139Thyroid hormone synthesis_Homo sapiens_hsa049180.57937490
140Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.57390322
141Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56781861
142Acute myeloid leukemia_Homo sapiens_hsa052210.56592754
143Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.56445788
144Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56272570
145MAPK signaling pathway_Homo sapiens_hsa040100.56261664
146TNF signaling pathway_Homo sapiens_hsa046680.56021664
147Metabolic pathways_Homo sapiens_hsa011000.54440027
148Oocyte meiosis_Homo sapiens_hsa041140.53976830
149Steroid hormone biosynthesis_Homo sapiens_hsa001400.53928329
150Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.53401416
151Fatty acid biosynthesis_Homo sapiens_hsa000610.53005849
152Non-homologous end-joining_Homo sapiens_hsa034500.51915010
153Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51338191
154Malaria_Homo sapiens_hsa051440.50808187
155HTLV-I infection_Homo sapiens_hsa051660.49788095
156Toxoplasmosis_Homo sapiens_hsa051450.48908205
157Glucagon signaling pathway_Homo sapiens_hsa049220.48564401
158Sphingolipid signaling pathway_Homo sapiens_hsa040710.47999066
159Homologous recombination_Homo sapiens_hsa034400.46964442
160Legionellosis_Homo sapiens_hsa051340.46503756
161Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46360952
162Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.45888483
163Measles_Homo sapiens_hsa051620.45823925
164Pyruvate metabolism_Homo sapiens_hsa006200.45169499
1652-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.45161796
166Pertussis_Homo sapiens_hsa051330.44878964
167Ribosome_Homo sapiens_hsa030100.43938797
168Ras signaling pathway_Homo sapiens_hsa040140.43563131
169Chemical carcinogenesis_Homo sapiens_hsa052040.43513346
170Epstein-Barr virus infection_Homo sapiens_hsa051690.43406230
171Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42518578
172Fatty acid metabolism_Homo sapiens_hsa012120.40644033
173Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.40462742
174Propanoate metabolism_Homo sapiens_hsa006400.39960234
175Renal cell carcinoma_Homo sapiens_hsa052110.39564222
176Fatty acid elongation_Homo sapiens_hsa000620.37753298
177Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.35681897
178Sulfur metabolism_Homo sapiens_hsa009200.35462846
179Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33680155
180Alcoholism_Homo sapiens_hsa050340.33523144
181mTOR signaling pathway_Homo sapiens_hsa041500.33258237
182Neurotrophin signaling pathway_Homo sapiens_hsa047220.33104224
183Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32344954
184Ovarian steroidogenesis_Homo sapiens_hsa049130.31896036
185Insulin signaling pathway_Homo sapiens_hsa049100.30617328

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