PDIA2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cobalamin metabolic process (GO:0009235)8.95651198
2regulation of phospholipase A2 activity (GO:0032429)8.63090440
3transcytosis (GO:0045056)8.42892797
4synaptic vesicle maturation (GO:0016188)7.96666319
5intestinal absorption (GO:0050892)7.90848901
6cholesterol catabolic process (GO:0006707)7.75213179
7sterol catabolic process (GO:0016127)7.75213179
8synaptic vesicle docking involved in exocytosis (GO:0016081)7.68550032
9negative regulation of digestive system process (GO:0060457)7.15674935
10glutamate secretion (GO:0014047)7.04936999
11glycolipid catabolic process (GO:0019377)6.80033199
12regulation of short-term neuronal synaptic plasticity (GO:0048172)6.65515962
13synaptic vesicle exocytosis (GO:0016079)6.58443104
14cysteine metabolic process (GO:0006534)6.55217065
15membrane lipid catabolic process (GO:0046466)6.44799208
16regulation of synaptic vesicle exocytosis (GO:2000300)6.33075792
17branched-chain amino acid catabolic process (GO:0009083)6.23310572
18valine metabolic process (GO:0006573)6.01779467
19proline biosynthetic process (GO:0006561)5.86623001
20cellular potassium ion homeostasis (GO:0030007)5.82761623
21positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.69603098
22* protein retention in ER lumen (GO:0006621)5.69025927
23Golgi transport vesicle coating (GO:0048200)5.59644600
24COPI coating of Golgi vesicle (GO:0048205)5.59644600
25ceramide catabolic process (GO:0046514)5.54052838
26membrane depolarization during cardiac muscle cell action potential (GO:0086012)5.52775822
27* maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.47764584
28neurotransmitter secretion (GO:0007269)5.47274659
29branched-chain amino acid metabolic process (GO:0009081)5.45473133
30axon ensheathment in central nervous system (GO:0032291)5.43508622
31central nervous system myelination (GO:0022010)5.43508622
32leukotriene biosynthetic process (GO:0019370)5.39319393
33regulation of synaptic vesicle transport (GO:1902803)5.38168420
34positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.32317124
35neutrophil mediated immunity (GO:0002446)5.23298305
36locomotory exploration behavior (GO:0035641)5.15376813
37sodium ion export (GO:0071436)5.14700259
38positive regulation of synapse maturation (GO:0090129)5.09068403
39cellular modified amino acid catabolic process (GO:0042219)5.04447497
40neuronal ion channel clustering (GO:0045161)4.96968124
41activation of signaling protein activity involved in unfolded protein response (GO:0006987)4.84731674
42regulation of neuronal synaptic plasticity (GO:0048168)4.83635224
43mitochondrial calcium ion transport (GO:0006851)4.81459584
44zinc ion transport (GO:0006829)4.73605407
45cerebellar granule cell differentiation (GO:0021707)4.65950930
46positive regulation of nuclease activity (GO:0032075)4.65029071
47serine family amino acid biosynthetic process (GO:0009070)4.63138518
48neuronal action potential propagation (GO:0019227)4.58023464
49protein maturation by protein folding (GO:0022417)4.50080554
50aspartate family amino acid catabolic process (GO:0009068)4.48524551
51antibacterial humoral response (GO:0019731)4.46741072
52vocalization behavior (GO:0071625)4.45085256
53exploration behavior (GO:0035640)4.42533675
54endoplasmic reticulum unfolded protein response (GO:0030968)4.39626325
55cerebellar Purkinje cell differentiation (GO:0021702)4.36907967
56homocysteine metabolic process (GO:0050667)4.36526477
57ionotropic glutamate receptor signaling pathway (GO:0035235)4.35690853
58signal peptide processing (GO:0006465)4.33012263
59neurotransmitter transport (GO:0006836)4.32535181
60positive regulation of heat generation (GO:0031652)4.30140686
61regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.29180418
62cellular response to unfolded protein (GO:0034620)4.26841562
63potassium ion homeostasis (GO:0055075)4.26010134
64intestinal epithelial cell development (GO:0060576)4.24731069
65regulation of long-term neuronal synaptic plasticity (GO:0048169)4.23853763
66regulation of nuclease activity (GO:0032069)4.22749937
674-hydroxyproline metabolic process (GO:0019471)4.14947296
68antimicrobial humoral response (GO:0019730)4.14056180
69arachidonic acid secretion (GO:0050482)4.12511501
70icosanoid secretion (GO:0032309)4.12511501
71regulation of fever generation (GO:0031620)4.09545214
72* response to endoplasmic reticulum stress (GO:0034976)4.06480293
73cellular response to topologically incorrect protein (GO:0035967)4.05469818
74ER-nucleus signaling pathway (GO:0006984)4.04791474
75regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.04605104
76glutamine metabolic process (GO:0006541)4.02697808
77regulation of synapse maturation (GO:0090128)4.01252012
78GDP-mannose metabolic process (GO:0019673)4.01085433
79myeloid leukocyte mediated immunity (GO:0002444)4.00213337
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.99995962
81L-amino acid import (GO:0043092)3.99873829
82neurotransmitter-gated ion channel clustering (GO:0072578)3.99342234
83potassium ion import (GO:0010107)3.98446219
84regulation of synapse structural plasticity (GO:0051823)3.96772875
85steroid catabolic process (GO:0006706)3.96646933
86cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.94539650
87dendritic spine morphogenesis (GO:0060997)3.94146733
88postsynaptic membrane organization (GO:0001941)3.94077380
89proline metabolic process (GO:0006560)3.93074119
90positive regulation of membrane potential (GO:0045838)3.92452787
91regulation of neurotransmitter levels (GO:0001505)3.90122946
92regulation of neurotransmitter secretion (GO:0046928)3.87665670
93synaptic transmission, glutamatergic (GO:0035249)3.87579358
94regulation of glutamate receptor signaling pathway (GO:1900449)3.86923464
95coenzyme catabolic process (GO:0009109)3.83441337
96protein localization to synapse (GO:0035418)3.81894164
97negative regulation of synaptic transmission, GABAergic (GO:0032229)3.81852545
98amino acid import (GO:0043090)3.78020795
99L-serine metabolic process (GO:0006563)3.75108917
100regulation of ARF protein signal transduction (GO:0032012)3.74001734
101regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.72824062
102neuromuscular process controlling balance (GO:0050885)3.72727989
103synaptic vesicle endocytosis (GO:0048488)3.70391890
104creatine metabolic process (GO:0006600)3.69964627
105positive regulation of dendritic spine development (GO:0060999)3.68931593
106regulation of excitatory postsynaptic membrane potential (GO:0060079)3.67751942
107regulation of synaptic plasticity (GO:0048167)3.64276769
108COPII vesicle coating (GO:0048208)3.64013097
109regulation of voltage-gated calcium channel activity (GO:1901385)3.63450028
110ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.61931926
111sphingolipid catabolic process (GO:0030149)3.61149940
112auditory behavior (GO:0031223)3.60760842
113regulation of vesicle fusion (GO:0031338)3.60658482
114tetrapyrrole metabolic process (GO:0033013)3.60122998
115serine family amino acid metabolic process (GO:0009069)3.60055352
116erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.56255567
117L-phenylalanine catabolic process (GO:0006559)3.56255567
118neuron-neuron synaptic transmission (GO:0007270)3.55100842
119innate immune response in mucosa (GO:0002227)3.54877469
120establishment of mitochondrion localization (GO:0051654)3.54202913
121phosphatidylinositol acyl-chain remodeling (GO:0036149)3.53855020
122glutamate receptor signaling pathway (GO:0007215)3.51218002
123digestive system process (GO:0022600)3.51194544
124gamma-aminobutyric acid transport (GO:0015812)3.50680317
125neuron cell-cell adhesion (GO:0007158)3.50046566
126regulation of neurotransmitter transport (GO:0051588)3.50013387
127layer formation in cerebral cortex (GO:0021819)3.49985571
128regulation of postsynaptic membrane potential (GO:0060078)3.49847909
129cell migration in hindbrain (GO:0021535)3.49440203
130positive regulation of neurotransmitter transport (GO:0051590)3.49213448
131ER overload response (GO:0006983)3.48011865
132cell differentiation in hindbrain (GO:0021533)3.47128371
133cellular sodium ion homeostasis (GO:0006883)3.46765000
134response to unfolded protein (GO:0006986)3.46473854
135mitochondrion distribution (GO:0048311)3.45358973
136phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.44014398
137cell communication by electrical coupling (GO:0010644)3.40224902
138L-phenylalanine metabolic process (GO:0006558)3.38203111
139erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.38203111
140negative regulation of epidermal cell differentiation (GO:0045605)3.37869362
141phosphatidylserine acyl-chain remodeling (GO:0036150)3.37117472
142fatty acid derivative transport (GO:1901571)3.35126757
143icosanoid transport (GO:0071715)3.35126757
144transmission of nerve impulse (GO:0019226)3.34473565
145leukotriene metabolic process (GO:0006691)3.33466975
146response to topologically incorrect protein (GO:0035966)3.33456288
147long-term memory (GO:0007616)3.32371913
148positive regulation of dendritic spine morphogenesis (GO:0061003)3.32202121
149retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.29428327
150membrane depolarization during action potential (GO:0086010)3.29375215
151biotin metabolic process (GO:0006768)3.28989066
152endocrine pancreas development (GO:0031018)3.28629154
153protein N-linked glycosylation via asparagine (GO:0018279)3.26975010
154peptidyl-asparagine modification (GO:0018196)3.24873906
155positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.24730315
156regulation of heat generation (GO:0031650)3.23734970
157presynaptic membrane organization (GO:0097090)3.22482910
158dendritic spine organization (GO:0097061)3.21931345
159neuromuscular process controlling posture (GO:0050884)3.21555661
160membrane depolarization (GO:0051899)3.18473396
161regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.17393094
162establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.15839644
163mitochondrion transport along microtubule (GO:0047497)3.15839644
164sulfur amino acid biosynthetic process (GO:0000097)3.15489713
165regulation of dendritic spine morphogenesis (GO:0061001)3.14570805
166positive regulation of neurotransmitter secretion (GO:0001956)3.13251379
167gamma-aminobutyric acid signaling pathway (GO:0007214)3.12843993
168L-alpha-amino acid transmembrane transport (GO:1902475)3.12390096
169neuromuscular synaptic transmission (GO:0007274)3.11447671
170cholesterol transport (GO:0030301)3.09386013
171sterol transport (GO:0015918)3.09386013
172lysine metabolic process (GO:0006553)3.06884201
173lysine catabolic process (GO:0006554)3.06884201
174acid secretion (GO:0046717)3.06423982
175acidic amino acid transport (GO:0015800)3.05840147
176glycine transport (GO:0015816)3.05727702
177regulation of digestive system process (GO:0044058)3.03133260
178negative regulation of dendrite morphogenesis (GO:0050774)3.02929739
179regulation of synaptic transmission (GO:0050804)3.00878963
180alpha-amino acid biosynthetic process (GO:1901607)3.00298816
181response to auditory stimulus (GO:0010996)2.99467789
182protein N-linked glycosylation (GO:0006487)2.99060681
183glycine metabolic process (GO:0006544)2.98460470
184adult walking behavior (GO:0007628)2.98144200
185proline transport (GO:0015824)2.96824598
186establishment of synaptic vesicle localization (GO:0097480)2.96587503
187synaptic vesicle transport (GO:0048489)2.96587503
188sulfur amino acid catabolic process (GO:0000098)2.96586020
189regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.96352233
190cerebellar Purkinje cell layer development (GO:0021680)2.94407737
191polarized epithelial cell differentiation (GO:0030859)2.93566717
192cytoskeletal anchoring at plasma membrane (GO:0007016)2.93234842
193regulation of dendritic spine development (GO:0060998)2.92323796
194mating behavior (GO:0007617)2.92213011
195activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.87707457
196intestinal cholesterol absorption (GO:0030299)17.9125018
197exocrine pancreas development (GO:0031017)16.2552611
198digestion (GO:0007586)15.2775683

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat7.85277571
2EZH2_22144423_ChIP-Seq_EOC_Human4.55473819
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.34834573
4STAT6_21828071_ChIP-Seq_BEAS2B_Human3.96202306
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.60858853
6REST_21632747_ChIP-Seq_MESCs_Mouse3.32739360
7EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.29753439
8* RARB_27405468_Chip-Seq_BRAIN_Mouse3.01054018
9ERG_21242973_ChIP-ChIP_JURKAT_Human2.98855729
10DROSHA_22980978_ChIP-Seq_HELA_Human2.93025650
11SOX2_27498859_Chip-Seq_STOMACH_Mouse2.88709094
12IRF8_22096565_ChIP-ChIP_GC-B_Human2.86352441
13SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.83912575
14JARID2_20064375_ChIP-Seq_MESCs_Mouse2.83897845
15REST_18959480_ChIP-ChIP_MESCs_Mouse2.79142480
16GATA4_25053715_ChIP-Seq_YYC3_Human2.77921809
17FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.77444052
18PPARA_22158963_ChIP-Seq_LIVER_Mouse2.77443777
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.75611130
20* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72799822
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.72544226
22* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.71235659
23RXR_22158963_ChIP-Seq_LIVER_Mouse2.67201828
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.57943614
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.56721606
26RNF2_18974828_ChIP-Seq_MESCs_Mouse2.55867167
27EZH2_18974828_ChIP-Seq_MESCs_Mouse2.55867167
28EZH2_27304074_Chip-Seq_ESCs_Mouse2.55382763
29* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.55204483
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.53288291
31CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.50542254
32ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.48193103
33RNF2_27304074_Chip-Seq_ESCs_Mouse2.41303361
34KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.38591143
35KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.38591143
36KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.38591143
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.26030913
38GATA6_25053715_ChIP-Seq_YYC3_Human2.24571054
39SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.24471793
40LXR_22158963_ChIP-Seq_LIVER_Mouse2.23762191
41IKZF1_21737484_ChIP-ChIP_HCT116_Human2.15363360
42GATA1_22025678_ChIP-Seq_K562_Human2.15117664
43SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.11713712
44ESR1_21235772_ChIP-Seq_MCF-7_Human2.10731005
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.10353272
46PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse2.09898947
47SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.06763161
48EED_16625203_ChIP-ChIP_MESCs_Mouse1.98344701
49RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.97838032
50KDM2B_26808549_Chip-Seq_K562_Human1.96154537
51ESR2_21235772_ChIP-Seq_MCF-7_Human1.94371139
52EGR1_19032775_ChIP-ChIP_M12_Human1.93115504
53NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.92085995
54RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.88270403
55ZFP281_18757296_ChIP-ChIP_E14_Mouse1.87597623
56TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82521087
57ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78587976
58CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.74744828
59EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.70292327
60PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.67972542
61TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66548320
62HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.60600162
63SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.60085054
64PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.59908513
65RING1B_27294783_Chip-Seq_ESCs_Mouse1.59902851
66E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.56527020
67RARG_19884340_ChIP-ChIP_MEFs_Mouse1.53365439
68OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.44041677
69LXR_22292898_ChIP-Seq_THP-1_Human1.43685386
70GBX2_23144817_ChIP-Seq_PC3_Human1.42543787
71TET1_21490601_ChIP-Seq_MESCs_Mouse1.42465234
72SA1_27219007_Chip-Seq_ERYTHROID_Human1.41951202
73NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.37838091
74PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.37615374
75ZFP281_27345836_Chip-Seq_ESCs_Mouse1.36880826
76P68_20966046_ChIP-Seq_HELA_Human1.33960017
77CHD1_26751641_Chip-Seq_LNCaP_Human1.33575525
78CREB1_26743006_Chip-Seq_LNCaP_Human1.32697010
79WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.31264466
80P63_26484246_Chip-Seq_KERATINOCYTES_Human1.29329752
81ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.28434865
82GATA1_26923725_Chip-Seq_HPCs_Mouse1.27944210
83FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.27597737
84SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.26870970
85PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.25158724
86SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.25152887
87ATF3_27146783_Chip-Seq_COLON_Human1.19957833
88KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19472322
89OCT4_19829295_ChIP-Seq_ESCs_Human1.15637118
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.14249671
91SOX2_20726797_ChIP-Seq_SW620_Human1.13996622
92BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.12293261
93NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.10775765
94WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10623266
95EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.10616449
96CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.10340368
97BCOR_27268052_Chip-Seq_Bcells_Human1.09436449
98PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.07318194
99ESET_19884257_ChIP-Seq_ESCs_Mouse1.07059111
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.06863711
101ERA_21632823_ChIP-Seq_H3396_Human1.06400540
102SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05711179
103ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05501243
104AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.04222585
105P53_21459846_ChIP-Seq_SAOS-2_Human1.04171511
106* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.03984110
107FOXA2_19822575_ChIP-Seq_HepG2_Human1.03496066
108FOXA1_25552417_ChIP-Seq_VCAP_Human1.03433538
109ETS1_21867929_ChIP-Seq_TH2_Mouse1.02748005
110* SMC4_20622854_ChIP-Seq_HELA_Human1.02730798
111FOXH1_21741376_ChIP-Seq_ESCs_Human1.02392538
112GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.00816266
113TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00700673
114RNF2_27304074_Chip-Seq_NSC_Mouse1.00590579
115AR_19668381_ChIP-Seq_PC3_Human1.00232140
116AR_21572438_ChIP-Seq_LNCaP_Human0.99373847
117OCT4_20526341_ChIP-Seq_ESCs_Human0.99083849
118NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98583576
119RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.98103066
120DPY_21335234_ChIP-Seq_ESCs_Mouse0.97887866
121ERG_20517297_ChIP-Seq_VCAP_Human0.97626177
122IRF1_19129219_ChIP-ChIP_H3396_Human0.97289957
123* TP63_22573176_ChIP-Seq_HFKS_Human0.96563551
124TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.95884498
125SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95736841
126RUNX1_27514584_Chip-Seq_MCF-7_Human0.95075150
127FOXO3_23340844_ChIP-Seq_DLD1_Human0.94898997
128GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94092264
129TAF2_19829295_ChIP-Seq_ESCs_Human0.94015505
130EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.93824722
131ELK4_26923725_Chip-Seq_MESODERM_Mouse0.93386087
132GATA3_24758297_ChIP-Seq_MCF-7_Human0.93359257
133SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.93353220
134PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.93104767
135DNAJC2_21179169_ChIP-ChIP_NT2_Human0.92798361
136RACK7_27058665_Chip-Seq_MCF-7_Human0.92183113
137CBX2_27304074_Chip-Seq_ESCs_Mouse0.92176329
138CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.91868712
139TP53_20018659_ChIP-ChIP_R1E_Mouse0.91810975
140CDX2_20551321_ChIP-Seq_CACO-2_Human0.91732843
141CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.91529660
142SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.91025087
143GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.90885252
144RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.90450327
145ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.90240586
146SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.89532732
147CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88809677
148SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88613577
149MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.88563907
150CLOCK_20551151_ChIP-Seq_293T_Human0.88544980
151* KLF4_19829295_ChIP-Seq_ESCs_Human0.88486772
152CTCF_20526341_ChIP-Seq_ESCs_Human0.88212519
153FOXP1_21924763_ChIP-Seq_HESCs_Human0.88062489
154SRY_22984422_ChIP-ChIP_TESTIS_Rat0.87282529
155KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.87256963
156PPAR_26484153_Chip-Seq_NCI-H1993_Human0.87064514
157PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.85893106
158PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85678399
159FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.85300287
160NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.85212249
161TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84130488
162DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84076403
163* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.83473452
164KDM2B_26808549_Chip-Seq_DND41_Human0.82791450
165GATA1_22383799_ChIP-Seq_G1ME_Mouse0.82776448
166SA1_27219007_Chip-Seq_Bcells_Human0.82328427
167* SMAD4_21741376_ChIP-Seq_ESCs_Human0.82217188
168UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.80969741
169ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80840544
170KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.80678710
171TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.80531936
172RUNX1_26923725_Chip-Seq_HPCs_Mouse0.80436883
173CTCF_27219007_Chip-Seq_Bcells_Human0.80327001
174FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.80286834
175MYC_19915707_ChIP-ChIP_AK7_Human0.79965016
176SOX2_21211035_ChIP-Seq_LN229_Gbm0.79065023
177MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.77696645
178BMI1_23680149_ChIP-Seq_NPCS_Mouse0.77431333
179KDM2B_26808549_Chip-Seq_JURKAT_Human0.74904352
180TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.74646135
181SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74053952
182CTNNB1_20460455_ChIP-Seq_HCT116_Human0.73444632
183TP53_23651856_ChIP-Seq_MEFs_Mouse0.73269523
184P53_22127205_ChIP-Seq_FIBROBLAST_Human0.73170652

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract9.68847850
2MP0001666_abnormal_nutrient_absorption9.38813293
3MP0004859_abnormal_synaptic_plasticity6.43893290
4MP0005365_abnormal_bile_salt6.30899684
5MP0005220_abnormal_exocrine_pancreas6.03622407
6MP0003868_abnormal_feces_composition5.08211505
7MP0003880_abnormal_central_pattern4.95953941
8MP0005084_abnormal_gallbladder_morpholo4.66060667
9MP0005423_abnormal_somatic_nervous4.62117569
10MP0004270_analgesia4.23734668
11MP0008004_abnormal_stomach_pH4.12240506
12MP0003635_abnormal_synaptic_transmissio3.87016161
13MP0005085_abnormal_gallbladder_physiolo3.51125668
14MP0002064_seizures3.43555437
15MP0001664_abnormal_digestion3.14678209
16MP0002063_abnormal_learning/memory/cond3.09989832
17MP0009745_abnormal_behavioral_response3.08091656
18MP0002272_abnormal_nervous_system2.93206993
19MP0001486_abnormal_startle_reflex2.73368491
20MP0002734_abnormal_mechanical_nocicepti2.71959940
21MP0009046_muscle_twitch2.62328228
22MP0008569_lethality_at_weaning2.49316938
23MP0002572_abnormal_emotion/affect_behav2.46508331
24MP0003959_abnormal_lean_body2.42871753
25MP0002693_abnormal_pancreas_physiology2.39562679
26MP0001968_abnormal_touch/_nociception2.36366831
27MP0003879_abnormal_hair_cell2.20150574
28MP0003787_abnormal_imprinting2.10890288
29MP0003123_paternal_imprinting2.04483607
30MP0001501_abnormal_sleep_pattern1.99487878
31MP0002139_abnormal_hepatobiliary_system1.98686941
32MP0002735_abnormal_chemical_nociception1.92391640
33MP0001970_abnormal_pain_threshold1.88339842
34MP0000920_abnormal_myelination1.82868575
35MP0000778_abnormal_nervous_system1.82299580
36MP0004811_abnormal_neuron_physiology1.81551628
37MP0003705_abnormal_hypodermis_morpholog1.80946134
38MP0002822_catalepsy1.79064584
39MP0001440_abnormal_grooming_behavior1.71406925
40MP0003690_abnormal_glial_cell1.68704911
41MP0002733_abnormal_thermal_nociception1.68187461
42MP0004264_abnormal_extraembryonic_tissu1.67214502
43MP0002557_abnormal_social/conspecific_i1.65811238
44MP0000470_abnormal_stomach_morphology1.63447815
45MP0001502_abnormal_circadian_rhythm1.62632523
46MP0002067_abnormal_sensory_capabilities1.62442549
47MP0006276_abnormal_autonomic_nervous1.60225735
48MP0000955_abnormal_spinal_cord1.59057965
49MP0003122_maternal_imprinting1.57392961
50MP0001944_abnormal_pancreas_morphology1.57046678
51MP0005448_abnormal_energy_balance1.56443486
52MP0003633_abnormal_nervous_system1.53388900
53MP0002736_abnormal_nociception_after1.52371354
54MP0002882_abnormal_neuron_morphology1.51336761
55MP0002138_abnormal_hepatobiliary_system1.49657623
56MP0004885_abnormal_endolymph1.49254370
57MP0004233_abnormal_muscle_weight1.48300197
58MP0002066_abnormal_motor_capabilities/c1.46558609
59MP0001873_stomach_inflammation1.44974689
60MP0010234_abnormal_vibrissa_follicle1.37048987
61MP0002184_abnormal_innervation1.36932324
62MP0003631_nervous_system_phenotype1.36851235
63MP0002118_abnormal_lipid_homeostasis1.34741666
64MP0005646_abnormal_pituitary_gland1.33423037
65MP0005165_increased_susceptibility_to1.32900471
66MP0003638_abnormal_response/metabolism_1.31086731
67MP0002277_abnormal_respiratory_mucosa1.30370500
68MP0003806_abnormal_nucleotide_metabolis1.24325191
69MP0001177_atelectasis1.21574485
70MP0002229_neurodegeneration1.20090178
71MP0005332_abnormal_amino_acid1.19065267
72MP0001984_abnormal_olfaction1.15970599
73MP0001905_abnormal_dopamine_level1.15763529
74MP0003634_abnormal_glial_cell1.15614803
75MP0004742_abnormal_vestibular_system1.15382076
76MP0005451_abnormal_body_composition1.13947087
77MP0001188_hyperpigmentation1.12533207
78MP0002152_abnormal_brain_morphology1.11481291
79MP0003632_abnormal_nervous_system1.11045999
80MP0003252_abnormal_bile_duct1.07528291
81MP0002909_abnormal_adrenal_gland1.06727653
82MP0000604_amyloidosis1.04781949
83MP0003656_abnormal_erythrocyte_physiolo1.01839267
84MP0002638_abnormal_pupillary_reflex0.96831249
85MP0001529_abnormal_vocalization0.96739272
86MP0001963_abnormal_hearing_physiology0.96537666
87MP0000490_abnormal_crypts_of0.95441023
88MP0002078_abnormal_glucose_homeostasis0.93124327
89MP0005551_abnormal_eye_electrophysiolog0.92750481
90MP0001986_abnormal_taste_sensitivity0.90618052
91MP0001485_abnormal_pinna_reflex0.88939212
92MP0003121_genomic_imprinting0.86721109
93MP0005408_hypopigmentation0.86614892
94MP0006054_spinal_hemorrhage0.83350918
95MP0009384_cardiac_valve_regurgitation0.82931964
96MP0001663_abnormal_digestive_system0.82764160
97MP0000003_abnormal_adipose_tissue0.80248227
98MP0002752_abnormal_somatic_nervous0.79757966
99MP0008874_decreased_physiological_sensi0.78972802
100MP0004142_abnormal_muscle_tone0.77621745
101MP0009643_abnormal_urine_homeostasis0.77481778
102MP0003186_abnormal_redox_activity0.77439947
103MP0005167_abnormal_blood-brain_barrier0.76254468
104MP0002928_abnormal_bile_duct0.75489755
105MP0010386_abnormal_urinary_bladder0.75400176
106MP0004145_abnormal_muscle_electrophysio0.75223613
107MP0003953_abnormal_hormone_level0.75006628
108MP0008789_abnormal_olfactory_epithelium0.74539323
109MP0005535_abnormal_body_temperature0.73876863
110MP0010329_abnormal_lipoprotein_level0.73830786
111MP0008438_abnormal_cutaneous_collagen0.73405652
112MP0005409_darkened_coat_color0.73065083
113MP0000566_synostosis0.70259540
114MP0005452_abnormal_adipose_tissue0.68099303
115MP0006036_abnormal_mitochondrial_physio0.65423676
116MP0005381_digestive/alimentary_phenotyp0.64099122
117MP0008877_abnormal_DNA_methylation0.62001254
118MP0005058_abnormal_lysosome_morphology0.60102831
119MP0000598_abnormal_liver_morphology0.59715947
120MP0001346_abnormal_lacrimal_gland0.59313726
121MP0001764_abnormal_homeostasis0.58916153
122MP0000747_muscle_weakness0.57658770
123MP0010769_abnormal_survival0.57229169
124MP0001299_abnormal_eye_distance/0.56939786
125MP0003861_abnormal_nervous_system0.56674663
126MP0008961_abnormal_basal_metabolism0.56422791
127MP0005499_abnormal_olfactory_system0.55646011
128MP0005394_taste/olfaction_phenotype0.55646011
129MP0002082_postnatal_lethality0.54191070
130MP0010770_preweaning_lethality0.54191070
131MP0010768_mortality/aging0.53957508
132MP0000613_abnormal_salivary_gland0.53724565
133MP0005623_abnormal_meninges_morphology0.52649453
134MP0009765_abnormal_xenobiotic_induced0.51312106
135MP0005645_abnormal_hypothalamus_physiol0.50593315
136MP0000579_abnormal_nail_morphology0.50448739
137MP0005360_urolithiasis0.50363758
138MP0001943_abnormal_respiration0.49716290
139MP0000026_abnormal_inner_ear0.49076485
140MP0000609_abnormal_liver_physiology0.48399699
141MP0005319_abnormal_enzyme/_coenzyme0.46814836
142MP0001731_abnormal_postnatal_growth0.45611481
143MP0002098_abnormal_vibrissa_morphology0.42666431
144MP0001845_abnormal_inflammatory_respons0.42522445
145MP0004185_abnormal_adipocyte_glucose0.42470637
146MP0002796_impaired_skin_barrier0.42230584
147MP0005334_abnormal_fat_pad0.40533520
148MP0002089_abnormal_postnatal_growth/wei0.40444314
149MP0005375_adipose_tissue_phenotype0.38048557
150MP0002060_abnormal_skin_morphology0.37487555
151MP0000750_abnormal_muscle_regeneration0.36717675
152MP0000367_abnormal_coat/_hair0.36373407
153MP0002876_abnormal_thyroid_physiology0.35231292
154MP0009642_abnormal_blood_homeostasis0.32995444
155MP0003045_fibrosis0.32549956
156MP0008872_abnormal_physiological_respon0.32190760
157MP0000377_abnormal_hair_follicle0.32055718
158MP0003795_abnormal_bone_structure0.31536254
159MP0000371_diluted_coat_color0.31138066
160MP0005636_abnormal_mineral_homeostasis0.30956386
161MP0003283_abnormal_digestive_organ0.28232970
162MP0003329_amyloid_beta_deposits0.27452524
163MP0009333_abnormal_splenocyte_physiolog0.27254288
164MP0002069_abnormal_eating/drinking_beha0.27220949
165MP0009780_abnormal_chondrocyte_physiolo0.24314097
166MP0003191_abnormal_cellular_cholesterol0.24287209
167MP0004147_increased_porphyrin_level0.24123380
168MP0002970_abnormal_white_adipose0.22793934
169MP0005386_behavior/neurological_phenoty0.22028884
170MP0004924_abnormal_behavior0.22028884
171MP0009931_abnormal_skin_appearance0.21250635
172MP0008469_abnormal_protein_level0.21118108
173MP0003956_abnormal_body_size0.20797440
174MP0003300_gastrointestinal_ulcer0.20178848
175MP0000647_abnormal_sebaceous_gland0.20149001
176MP0010678_abnormal_skin_adnexa0.19469782
177MP0001756_abnormal_urination0.18197157
178MP0001348_abnormal_lacrimal_gland0.17207757
179MP0009703_decreased_birth_body0.16608506
180MP0001243_abnormal_dermal_layer0.16549629
181MP0004130_abnormal_muscle_cell0.16477774
182MP0008875_abnormal_xenobiotic_pharmacok0.16225155

Predicted human phenotypes

RankGene SetZ-score
1Steatorrhea (HP:0002570)8.36230911
2Myokymia (HP:0002411)8.16666065
3Fat malabsorption (HP:0002630)6.91136063
4Gout (HP:0001997)6.85823989
5Focal motor seizures (HP:0011153)6.03020035
6Short chin (HP:0000331)5.87259269
7Focal seizures (HP:0007359)5.74780580
8Decreased subcutaneous fat (HP:0001002)5.54112512
9Action tremor (HP:0002345)5.10883578
10Abnormality of subcutaneous fat tissue (HP:0001001)5.03670143
11Type I diabetes mellitus (HP:0100651)4.93574648
12Epileptic encephalopathy (HP:0200134)4.91861745
13Ankle clonus (HP:0011448)4.90224359
14Exocrine pancreatic insufficiency (HP:0001738)4.87528210
15Febrile seizures (HP:0002373)4.85775253
16Supranuclear gaze palsy (HP:0000605)4.84317678
17Abnormal number of erythroid precursors (HP:0012131)4.73661606
18Atonic seizures (HP:0010819)4.51849971
19Hypoplasia of the pons (HP:0012110)4.51811867
20Abnormality of the intrinsic pathway (HP:0010989)4.48346190
21Abnormality of cells of the erythroid lineage (HP:0012130)4.44830621
22Maternal diabetes (HP:0009800)4.43660736
23Abnormality of the pons (HP:0007361)4.23908777
24Abnormality of binocular vision (HP:0011514)4.20502197
25Diplopia (HP:0000651)4.20502197
26Limb dystonia (HP:0002451)4.15650428
27Neurofibrillary tangles (HP:0002185)4.11265317
28Tubulointerstitial nephritis (HP:0001970)4.06231818
29Spastic gait (HP:0002064)4.04658711
30Visual hallucinations (HP:0002367)4.03250031
31Pancreatitis (HP:0001733)3.88585170
32Abnormal pancreas size (HP:0012094)3.88160490
33Cortical dysplasia (HP:0002539)3.82013046
34Premature skin wrinkling (HP:0100678)3.80100691
35Annular pancreas (HP:0001734)3.79354847
36Ketosis (HP:0001946)3.78180700
37Abnormality of aromatic amino acid family metabolism (HP:0004338)3.72143130
38Cerebral hypomyelination (HP:0006808)3.69746067
39Tubulointerstitial fibrosis (HP:0005576)3.62293697
40Abnormal eating behavior (HP:0100738)3.58379404
41Torticollis (HP:0000473)3.56632501
42Progressive cerebellar ataxia (HP:0002073)3.53595451
43Abnormality of the corticospinal tract (HP:0002492)3.53562624
44Ketoacidosis (HP:0001993)3.52667390
45Generalized tonic-clonic seizures (HP:0002069)3.52294340
46Joint stiffness (HP:0001387)3.49703779
47Urinary bladder sphincter dysfunction (HP:0002839)3.46267747
48Dysmetria (HP:0001310)3.45482073
49Mutism (HP:0002300)3.32641558
50Hypoproteinemia (HP:0003075)3.32585771
51Carpal bone hypoplasia (HP:0001498)3.32295971
52Hyperglycinemia (HP:0002154)3.22911112
53Postural instability (HP:0002172)3.22829975
54Cerebral inclusion bodies (HP:0100314)3.22433078
55Obstructive sleep apnea (HP:0002870)3.20772025
56Hyperuricemia (HP:0002149)3.18883702
57Increased purine levels (HP:0004368)3.18883702
58Long foot (HP:0001833)3.16198225
59Intention tremor (HP:0002080)3.12321567
60Impaired vibration sensation in the lower limbs (HP:0002166)3.11188216
61Megaloblastic anemia (HP:0001889)3.07645120
62Akinesia (HP:0002304)3.01625572
63Absence seizures (HP:0002121)2.99988861
64Focal dystonia (HP:0004373)2.99708638
65Abnormality of the pancreatic islet cells (HP:0006476)2.98187151
66Abnormality of endocrine pancreas physiology (HP:0012093)2.98187151
67Status epilepticus (HP:0002133)2.94971163
68Tetraplegia (HP:0002445)2.94782196
69Urinary urgency (HP:0000012)2.90642171
70Dialeptic seizures (HP:0011146)2.88801187
71Truncal ataxia (HP:0002078)2.88664561
72Depression (HP:0000716)2.87970200
73Abnormality of sulfur amino acid metabolism (HP:0004339)2.86817053
74Hyperglycinuria (HP:0003108)2.82808020
75Craniofacial dystonia (HP:0012179)2.79848581
76Epileptiform EEG discharges (HP:0011182)2.76486192
77Poor eye contact (HP:0000817)2.75173476
78Neuronal loss in central nervous system (HP:0002529)2.74907600
79Abnormality of the common coagulation pathway (HP:0010990)2.73969615
80Hypoglycemic coma (HP:0001325)2.73389224
81Hemiplegia (HP:0002301)2.71292698
82Clonus (HP:0002169)2.69988059
83Lower limb muscle weakness (HP:0007340)2.69163987
84Abnormality of glycine metabolism (HP:0010895)2.68381755
85Abnormality of serine family amino acid metabolism (HP:0010894)2.68381755
86Papilledema (HP:0001085)2.68035377
87Degeneration of the lateral corticospinal tracts (HP:0002314)2.67243382
88Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.67243382
89Insomnia (HP:0100785)2.66665277
90Anxiety (HP:0000739)2.66055998
91Ventricular fibrillation (HP:0001663)2.65360821
92Abnormal tarsal ossification (HP:0008369)2.65062228
93Prenatal maternal abnormality (HP:0002686)2.60259348
94Abnormality of the lower motor neuron (HP:0002366)2.57638537
95Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.56441928
96Abnormal protein N-linked glycosylation (HP:0012347)2.56441928
97Abnormal protein glycosylation (HP:0012346)2.56441928
98Abnormal glycosylation (HP:0012345)2.56441928
99Bradykinesia (HP:0002067)2.56023658
100Sleep apnea (HP:0010535)2.52974272
101EEG with generalized epileptiform discharges (HP:0011198)2.52771671
102Optic nerve hypoplasia (HP:0000609)2.52761566
103Impaired smooth pursuit (HP:0007772)2.52257970
104CNS hypomyelination (HP:0003429)2.49405298
105Peripheral hypomyelination (HP:0007182)2.48504391
106Fatigue (HP:0012378)2.48098523
107Impaired social interactions (HP:0000735)2.42767089
108Abnormal social behavior (HP:0012433)2.42767089
109Hypsarrhythmia (HP:0002521)2.41343601
110Scanning speech (HP:0002168)2.41157604
111Delusions (HP:0000746)2.39437314
112Fetal akinesia sequence (HP:0001989)2.38456753
113Apathy (HP:0000741)2.38255600
114Progressive muscle weakness (HP:0003323)2.36076487
115Abnormality of the vitamin B12 metabolism (HP:0004341)2.35785095
116Amblyopia (HP:0000646)2.34138823
117Tubular atrophy (HP:0000092)2.33822017
118Small epiphyses (HP:0010585)2.28922349
119Hemiparesis (HP:0001269)2.28537926
120Impaired vibratory sensation (HP:0002495)2.27736612
121Polyphagia (HP:0002591)2.27621836
122Abnormality of vitamin B metabolism (HP:0004340)2.27533893
123Morphological abnormality of the pyramidal tract (HP:0002062)2.27496401
124Spastic tetraparesis (HP:0001285)2.26826946
125Choreoathetosis (HP:0001266)2.25465607
126Late onset (HP:0003584)2.24786217
127Acute hepatic failure (HP:0006554)2.23094036
128Dysdiadochokinesis (HP:0002075)2.22941747
129Abnormality of ocular smooth pursuit (HP:0000617)2.22251128
130Pectus carinatum (HP:0000768)2.22223724
131Abnormality of the renal cortex (HP:0011035)2.22205749
132Rigidity (HP:0002063)2.21444393
133Hypoglycemic seizures (HP:0002173)2.20480696
134Abnormality of methionine metabolism (HP:0010901)2.18975921
135Reduced antithrombin III activity (HP:0001976)2.18416928
136Cortical visual impairment (HP:0100704)2.17893294
137Vacuolated lymphocytes (HP:0001922)2.17713232
138Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.17667600
139Hypoplasia of the odontoid process (HP:0003311)2.16985578
140Diminished motivation (HP:0000745)2.15598376
141Right ventricular cardiomyopathy (HP:0011663)2.14849682
142Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.14193975
143Stereotypic behavior (HP:0000733)2.13767890
144Rapidly progressive (HP:0003678)2.13650500
145Turricephaly (HP:0000262)2.11659293
146Barrel-shaped chest (HP:0001552)2.08980009
147Methylmalonic aciduria (HP:0012120)2.08978246
148Abnormality of purine metabolism (HP:0004352)2.08459274
149Tubulointerstitial abnormality (HP:0001969)2.07685499
150Opisthotonus (HP:0002179)2.07678051
151Congenital glaucoma (HP:0001087)2.07120003
152Genetic anticipation (HP:0003743)2.05509619
153Hand muscle atrophy (HP:0009130)2.05400329
154Prolonged QT interval (HP:0001657)2.03718219
155Renal salt wasting (HP:0000127)2.02070289
156Type II lissencephaly (HP:0007260)2.01789318
157Abnormality of homocysteine metabolism (HP:0010919)1.99669992
158Homocystinuria (HP:0002156)1.99669992
159Esophageal varix (HP:0002040)1.98980896
160Myocardial infarction (HP:0001658)1.95936252
161Incomplete penetrance (HP:0003829)1.95409797
162Broad-based gait (HP:0002136)1.95315128
163Abnormal foot bone ossification (HP:0010675)1.94805995
164Ankyloglossia (HP:0010296)1.94181562
165Spinal canal stenosis (HP:0003416)1.93030132
166Distal upper limb amyotrophy (HP:0007149)1.92829957
167Upper limb amyotrophy (HP:0009129)1.92829957
168Dysostosis multiplex (HP:0000943)1.92761172
169Pointed chin (HP:0000307)1.92431237
170Megalencephaly (HP:0001355)1.90961475
171Hyperammonemia (HP:0001987)1.90948195
172Abnormality of aspartate family amino acid metabolism (HP:0010899)1.90785070
173Acute encephalopathy (HP:0006846)1.90642696
174Large hands (HP:0001176)1.89912611
175Aplasia involving bones of the upper limbs (HP:0009823)1.89159447
176Aplasia of the phalanges of the hand (HP:0009802)1.89159447
177Aplasia involving bones of the extremities (HP:0009825)1.89159447
178Drooling (HP:0002307)1.89129001
179Abnormality of vitamin metabolism (HP:0100508)1.87031098
180Hypoplasia of the uterus (HP:0000013)1.86073806
181Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.85686178
182Thickened helices (HP:0000391)1.83629388
183Abnormality of dicarboxylic acid metabolism (HP:0010995)1.83231946
184Dicarboxylic aciduria (HP:0003215)1.83231946
185Bundle branch block (HP:0011710)1.82245797
186Thoracic kyphosis (HP:0002942)1.81584560
187Lethargy (HP:0001254)1.80580851
188Lower limb amyotrophy (HP:0007210)1.80208708
189Glomerulosclerosis (HP:0000096)1.80014757
190Paraplegia (HP:0010550)1.79762850
191Beaking of vertebral bodies (HP:0004568)1.79593324
192Cerebral edema (HP:0002181)1.79574489
193Limb hypertonia (HP:0002509)1.78799795
194Hyperinsulinemic hypoglycemia (HP:0000825)1.74944126
195Abnormality of the odontoid process (HP:0003310)1.73576706
196Redundant skin (HP:0001582)1.72026066

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN15.25101402
2EIF2AK34.52149528
3NTRK34.15921005
4EPHA44.11732926
5MAP2K24.03008885
6MARK13.82742685
7PAK63.74584698
8TRIB33.51492140
9PKN23.26295023
10UHMK13.00890810
11NTRK22.70701691
12PRKD32.39973831
13MINK12.33346588
14FRK2.27674250
15MAPKAPK32.17676395
16ZAP702.15057209
17INSRR2.10540001
18BCKDK10.1663358
19CASK1.87964179
20MAP2K11.73733027
21NME21.67574529
22ARAF1.66794239
23IRAK31.65446979
24PAK21.61650087
25CDK51.60157457
26SGK2231.56667595
27SGK4941.56667595
28SCYL21.54279708
29PRPF4B1.54055939
30NME11.50884751
31SIK21.47531886
32TAOK31.45976659
33TYRO31.45947313
34PHKG21.41785783
35PHKG11.41785783
36WNK41.39866665
37EEF2K1.34833721
38MARK21.34416096
39PIK3CG1.34013959
40GRK51.29848104
41MAPK131.29520563
42RPS6KB21.27501058
43CAMK11.27163145
44PLK21.24451530
45PDGFRB1.21313801
46DYRK1A1.21051344
47PRKCG1.19878378
48PAK31.18242483
49CDK151.18034140
50CAMK2B1.16905821
51LATS21.15960329
52CDK181.13149538
53CDK11A1.09886533
54FLT31.09845165
55PIK3CA1.08492683
56PTK61.07673022
57MAPK151.07060530
58CDK141.04132645
59DAPK11.03174411
60SGK20.99326225
61PDK20.98301834
62PKN10.97339883
63SGK30.93397493
64STK380.93271673
65BRAF0.93191486
66CAMK2G0.91104041
67ALK0.88724564
68STK110.86579898
69CAMKK10.83292515
70WNK10.83062028
71SIK10.82320008
72MAP3K130.80600984
73CAMK2A0.79215031
74LRRK20.78169274
75LATS10.78043665
76FGFR20.76270737
77BRSK10.75785191
78MAP2K60.75013908
79DAPK20.74483007
80STK390.74121893
81MAP3K110.74054981
82SGK10.72324800
83LIMK10.72270040
84MST1R0.71491385
85MAP3K20.70141135
86MAPK100.67533363
87TNK20.67301518
88ICK0.66778125
89PRKCI0.64452198
90MTOR0.63004965
91IRAK20.61893291
92OXSR10.61776452
93CAMK1G0.61292865
94RET0.61184344
95MAP3K40.59145497
96CAMK40.58955463
97PDPK10.57824630
98DYRK1B0.57633587
99RIPK40.56986762
100RPS6KA30.56319335
101MAPK120.55792487
102CAMK2D0.53574251
103TESK10.52582382
104RPS6KB10.51103794
105EIF2AK10.50714210
106CAMKK20.48496338
107KSR20.48253110
108MAP2K70.47520918
109PRKCZ0.47023487
110PDK10.46648500
111KSR10.45638350
112MET0.41477671
113PRKG20.40910961
114ROCK20.40144015
115IRAK40.40061695
116PRKAA10.37059500
117FYN0.36356075
118PINK10.35248350
119ERBB20.35116488
120PDK40.34159133
121PDK30.34159133
122MAPK80.33746712
123PRKACB0.33633888
124PRKCH0.32889967
125MAPK30.32212082
126NEK60.32049421
127PRKCA0.31793108
128RPS6KA10.31100614
129ILK0.30317515
130JAK20.30282295
131MAP3K90.29378893
132RAF10.28977960
133CSNK1G20.28542836
134CDK190.27699175
135FER0.27325908
136NTRK10.26128342
137MAP3K70.26126689
138MAP3K80.25947032
139MAPK110.24526074
140MAP3K30.22743036
141ABL10.22115380
142RIPK10.21701113
143TBK10.19919749
144EPHB10.19819206
145DDR20.19611558
146MAP3K10.19076890
147PTK20.16752052
148MAPK10.15434407
149IRAK10.14833864
150IGF1R0.14516198
151DYRK20.14420862
152PRKD10.13472222
153PDGFRA0.12981474
154MAP2K40.12920829
155MATK0.12407266
156EGFR0.12374969
157PIM20.11555905
158AKT10.10449615
159STK160.10232218
160LMTK20.09093167
161DAPK30.08914621
162NUAK10.08777094
163RPS6KA20.06619721
164CSNK1E0.05851437
165FGFR40.05455256
166CSNK1A10.05407656
167CAMK1D0.04874981
168MAPKAPK50.04777412
169BMX0.04577250
170MAP2K30.04312674

Predicted pathways (KEGG)

RankGene SetZ-score
1Pancreatic secretion_Homo sapiens_hsa049728.29833447
2Fat digestion and absorption_Homo sapiens_hsa049756.39253706
3Protein digestion and absorption_Homo sapiens_hsa049745.34184457
4Synaptic vesicle cycle_Homo sapiens_hsa047213.86330570
5Nicotine addiction_Homo sapiens_hsa050333.76222718
6Protein export_Homo sapiens_hsa030603.17570112
7Glycerolipid metabolism_Homo sapiens_hsa005613.00626682
8Folate biosynthesis_Homo sapiens_hsa007902.79214126
9Maturity onset diabetes of the young_Homo sapiens_hsa049502.78086666
10Cyanoamino acid metabolism_Homo sapiens_hsa004602.54343392
11Long-term potentiation_Homo sapiens_hsa047202.51348922
12Vitamin digestion and absorption_Homo sapiens_hsa049772.48785882
13GABAergic synapse_Homo sapiens_hsa047272.48214120
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.41459979
15Glutamatergic synapse_Homo sapiens_hsa047242.38014850
16Amphetamine addiction_Homo sapiens_hsa050312.37174447
17Circadian entrainment_Homo sapiens_hsa047132.35061639
18Morphine addiction_Homo sapiens_hsa050322.28802466
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.26978932
20Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.24982484
21Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.10707842
22Dopaminergic synapse_Homo sapiens_hsa047282.03112677
23Cocaine addiction_Homo sapiens_hsa050301.93665677
24Propanoate metabolism_Homo sapiens_hsa006401.91395290
25Steroid biosynthesis_Homo sapiens_hsa001001.78984439
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71161906
27Cholinergic synapse_Homo sapiens_hsa047251.65516170
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.56447759
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55473353
30Linoleic acid metabolism_Homo sapiens_hsa005911.50670057
31Salivary secretion_Homo sapiens_hsa049701.43023317
32Vitamin B6 metabolism_Homo sapiens_hsa007501.40713310
33Renin-angiotensin system_Homo sapiens_hsa046141.37875146
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34957291
35Oxytocin signaling pathway_Homo sapiens_hsa049211.29686971
36Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.27337754
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.25501486
38cAMP signaling pathway_Homo sapiens_hsa040241.22497147
39Long-term depression_Homo sapiens_hsa047301.19328236
40Taste transduction_Homo sapiens_hsa047421.15718340
41Arginine and proline metabolism_Homo sapiens_hsa003301.09321313
42Renin secretion_Homo sapiens_hsa049241.09049416
43GnRH signaling pathway_Homo sapiens_hsa049121.08439989
44Estrogen signaling pathway_Homo sapiens_hsa049151.06785608
45Serotonergic synapse_Homo sapiens_hsa047261.02448095
46Biosynthesis of amino acids_Homo sapiens_hsa012301.00911279
47Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.98895073
48Phosphatidylinositol signaling system_Homo sapiens_hsa040700.98072033
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.94382458
50Gap junction_Homo sapiens_hsa045400.93714016
51Glioma_Homo sapiens_hsa052140.93005233
52ErbB signaling pathway_Homo sapiens_hsa040120.89874782
53N-Glycan biosynthesis_Homo sapiens_hsa005100.87393853
54Melanogenesis_Homo sapiens_hsa049160.84116284
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.84114626
56Axon guidance_Homo sapiens_hsa043600.84015012
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.83817189
58Starch and sucrose metabolism_Homo sapiens_hsa005000.83660522
59Olfactory transduction_Homo sapiens_hsa047400.82933798
60Other glycan degradation_Homo sapiens_hsa005110.81498001
61Phototransduction_Homo sapiens_hsa047440.78436264
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78017745
63Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.77275108
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.77068321
65Selenocompound metabolism_Homo sapiens_hsa004500.75219543
66cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75055063
67One carbon pool by folate_Homo sapiens_hsa006700.72303614
68Type II diabetes mellitus_Homo sapiens_hsa049300.71576995
69Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.71069671
70Influenza A_Homo sapiens_hsa051640.70445950
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.70269644
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.70203018
73Sulfur metabolism_Homo sapiens_hsa009200.69600459
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68966326
75beta-Alanine metabolism_Homo sapiens_hsa004100.67833149
76Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.66238842
77Cardiac muscle contraction_Homo sapiens_hsa042600.65704972
78Collecting duct acid secretion_Homo sapiens_hsa049660.65646240
79Prion diseases_Homo sapiens_hsa050200.65613007
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.65263314
81Glutathione metabolism_Homo sapiens_hsa004800.64850009
82Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.64630381
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.63672690
84Fatty acid degradation_Homo sapiens_hsa000710.63128580
85Oocyte meiosis_Homo sapiens_hsa041140.62937337
86Pyruvate metabolism_Homo sapiens_hsa006200.61371853
87MAPK signaling pathway_Homo sapiens_hsa040100.61098257
88Inositol phosphate metabolism_Homo sapiens_hsa005620.60692689
89Gastric acid secretion_Homo sapiens_hsa049710.59112260
90Notch signaling pathway_Homo sapiens_hsa043300.58445195
91Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.58225785
92Ras signaling pathway_Homo sapiens_hsa040140.57722661
93Arachidonic acid metabolism_Homo sapiens_hsa005900.56219050
94Rap1 signaling pathway_Homo sapiens_hsa040150.55708327
95Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.55623962
96Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55034060
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.54692159
98Endocytosis_Homo sapiens_hsa041440.52984713
99Ether lipid metabolism_Homo sapiens_hsa005650.52260800
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.51728195
101Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.51670869
102Insulin secretion_Homo sapiens_hsa049110.51330843
103Glucagon signaling pathway_Homo sapiens_hsa049220.49734959
104Vibrio cholerae infection_Homo sapiens_hsa051100.48787304
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47979447
106Choline metabolism in cancer_Homo sapiens_hsa052310.46433602
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45488314
108Circadian rhythm_Homo sapiens_hsa047100.43961302
109Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42185266
110Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.39162970
111Carbon metabolism_Homo sapiens_hsa012000.38795952
112Sulfur relay system_Homo sapiens_hsa041220.38629358
113Mineral absorption_Homo sapiens_hsa049780.38447323
114Sphingolipid signaling pathway_Homo sapiens_hsa040710.37291021
115Arginine biosynthesis_Homo sapiens_hsa002200.36713566
116Alcoholism_Homo sapiens_hsa050340.36008108
117Fatty acid biosynthesis_Homo sapiens_hsa000610.34569537
118Tryptophan metabolism_Homo sapiens_hsa003800.34398776
119Metabolic pathways_Homo sapiens_hsa011000.33928178
120Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33654497
121Chemical carcinogenesis_Homo sapiens_hsa052040.33458399
122Fructose and mannose metabolism_Homo sapiens_hsa000510.33445647
123Oxidative phosphorylation_Homo sapiens_hsa001900.33177938
124AMPK signaling pathway_Homo sapiens_hsa041520.33072547
125Legionellosis_Homo sapiens_hsa051340.32831292
126Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32286622
127Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.32180780
128Dilated cardiomyopathy_Homo sapiens_hsa054140.29887267
129Parkinsons disease_Homo sapiens_hsa050120.29864230
130Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29490727
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.29339972
132Ovarian steroidogenesis_Homo sapiens_hsa049130.28934628
133Insulin signaling pathway_Homo sapiens_hsa049100.28517190
134ABC transporters_Homo sapiens_hsa020100.27308150
135Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27234932
136Alzheimers disease_Homo sapiens_hsa050100.26310718
137Tight junction_Homo sapiens_hsa045300.25959423
138Regulation of autophagy_Homo sapiens_hsa041400.21441119
139Lysosome_Homo sapiens_hsa041420.21415049
140Glycerophospholipid metabolism_Homo sapiens_hsa005640.20221672
141Fatty acid metabolism_Homo sapiens_hsa012120.19145943
142Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.18541492
143Endometrial cancer_Homo sapiens_hsa052130.16826642
144VEGF signaling pathway_Homo sapiens_hsa043700.13706587
145SNARE interactions in vesicular transport_Homo sapiens_hsa041300.13285868
146Nitrogen metabolism_Homo sapiens_hsa009100.12548618
147Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.10901195
148Peroxisome_Homo sapiens_hsa041460.09275671
149Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.09175763
150Histidine metabolism_Homo sapiens_hsa003400.09158535
151Calcium signaling pathway_Homo sapiens_hsa040200.08945222
152Bile secretion_Homo sapiens_hsa049760.08706835
153Thyroid hormone synthesis_Homo sapiens_hsa049180.05390052
154Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.02961812
155Butanoate metabolism_Homo sapiens_hsa006500.02690592
156Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.02445139
157Prostate cancer_Homo sapiens_hsa052150.02072956
158Ribosome_Homo sapiens_hsa030100.01931929
159Insulin resistance_Homo sapiens_hsa049310.01405624
160Longevity regulating pathway - mammal_Homo sapiens_hsa042110.00768747
161Galactose metabolism_Homo sapiens_hsa00052-0.0134671
162Non-small cell lung cancer_Homo sapiens_hsa05223-0.0077326
163mTOR signaling pathway_Homo sapiens_hsa04150-0.0035248

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