PFKP

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 phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.88103454
2synaptic vesicle exocytosis (GO:0016079)5.80792955
3Golgi transport vesicle coating (GO:0048200)5.69315723
4COPI coating of Golgi vesicle (GO:0048205)5.69315723
5synaptic vesicle maturation (GO:0016188)5.32497001
6synaptic vesicle docking involved in exocytosis (GO:0016081)5.11230606
7negative regulation of cytosolic calcium ion concentration (GO:0051481)5.07913603
8sodium ion export (GO:0071436)5.06254684
9regulation of synaptic vesicle exocytosis (GO:2000300)5.02035113
10cellular potassium ion homeostasis (GO:0030007)4.93580768
11positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.92308546
12glutamate secretion (GO:0014047)4.65132849
13positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.63143872
14vocalization behavior (GO:0071625)4.62697364
15G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.60224391
16protein localization to synapse (GO:0035418)4.57189103
17detection of light stimulus involved in visual perception (GO:0050908)4.55242951
18detection of light stimulus involved in sensory perception (GO:0050962)4.55242951
19protein retention in ER lumen (GO:0006621)4.55153009
20maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.53992870
21hemidesmosome assembly (GO:0031581)4.53723141
22positive regulation of synapse maturation (GO:0090129)4.46283306
23cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.45409026
24cytoskeletal anchoring at plasma membrane (GO:0007016)4.31291170
25protein localization to endosome (GO:0036010)4.31178357
26regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.25078650
27neurotransmitter secretion (GO:0007269)4.19988280
28regulation of synaptic vesicle transport (GO:1902803)4.18891116
29synaptic vesicle endocytosis (GO:0048488)4.17354326
30regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.12996840
31retinal rod cell development (GO:0046548)4.09574814
32retinal cone cell development (GO:0046549)4.08505475
33cell adhesion mediated by integrin (GO:0033627)4.04143429
34peptidyl-proline hydroxylation (GO:0019511)4.02872313
35response to histamine (GO:0034776)4.01600298
36positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.01216281
37innervation (GO:0060384)4.00749135
38retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.00627474
39regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.99134338
40protein maturation by protein folding (GO:0022417)3.98399321
41cell-substrate junction assembly (GO:0007044)3.96094429
42cell communication by electrical coupling (GO:0010644)3.93552553
43gamma-aminobutyric acid signaling pathway (GO:0007214)3.93389484
44skin morphogenesis (GO:0043589)3.85088756
45protein hydroxylation (GO:0018126)3.84120937
46striatum development (GO:0021756)3.83833663
47regulation of synapse structural plasticity (GO:0051823)3.80525824
48neuron cell-cell adhesion (GO:0007158)3.79321242
49epithelial cell-cell adhesion (GO:0090136)3.79195826
50regulation of glutamate receptor signaling pathway (GO:1900449)3.78951578
51membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.78504442
52locomotory exploration behavior (GO:0035641)3.76554503
53cerebellar Purkinje cell differentiation (GO:0021702)3.76093583
54potassium ion homeostasis (GO:0055075)3.75699408
55desmosome organization (GO:0002934)3.71744501
56glucose 6-phosphate metabolic process (GO:0051156)3.70703879
57focal adhesion assembly (GO:0048041)3.68816865
58cell-substrate adherens junction assembly (GO:0007045)3.68816865
59glutamate receptor signaling pathway (GO:0007215)3.68585349
60adherens junction assembly (GO:0034333)3.68490031
61membrane depolarization during action potential (GO:0086010)3.66775998
62activation of Rac GTPase activity (GO:0032863)3.59346432
63neurotransmitter transport (GO:0006836)3.57231101
64prepulse inhibition (GO:0060134)3.57124320
65regulation of voltage-gated calcium channel activity (GO:1901385)3.52207045
66mating behavior (GO:0007617)3.50539331
67regulation of neurotransmitter secretion (GO:0046928)3.49054029
68neuron-neuron synaptic transmission (GO:0007270)3.48111295
69proline transport (GO:0015824)3.48057589
70membrane hyperpolarization (GO:0060081)3.45430401
71* glycolytic process (GO:0006096)3.44994857
72neurotransmitter-gated ion channel clustering (GO:0072578)3.44364620
73regulation of translational fidelity (GO:0006450)3.34814169
74peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.33719529
75regulation of early endosome to late endosome transport (GO:2000641)3.33267045
76regulation of synapse maturation (GO:0090128)3.32689993
77long-term synaptic potentiation (GO:0060291)3.31744824
78regulation of neurotransmitter transport (GO:0051588)3.29921375
79behavioral response to ethanol (GO:0048149)3.29235837
80relaxation of smooth muscle (GO:0044557)3.28841022
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.28343452
82layer formation in cerebral cortex (GO:0021819)3.26310768
83nuclear envelope reassembly (GO:0031468)3.24530906
84mitotic nuclear envelope reassembly (GO:0007084)3.24530906
85barbed-end actin filament capping (GO:0051016)3.23432057
86establishment of synaptic vesicle localization (GO:0097480)3.23230855
87synaptic vesicle transport (GO:0048489)3.23230855
88ionotropic glutamate receptor signaling pathway (GO:0035235)3.21861057
89positive regulation of neurotransmitter transport (GO:0051590)3.20962278
90synaptic transmission, glutamatergic (GO:0035249)3.20253721
91positive regulation of potassium ion transmembrane transport (GO:1901381)3.19471814
92regulation of vesicle fusion (GO:0031338)3.19350073
93cerebellar granule cell differentiation (GO:0021707)3.18352313
94synapse assembly (GO:0007416)3.17950559
95regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.17466777
96regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.17466777
97positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.15880273
98mitotic chromosome condensation (GO:0007076)3.13432364
99nucleobase-containing small molecule interconversion (GO:0015949)3.12376122
100response to pheromone (GO:0019236)3.09279223
101regulation of postsynaptic membrane potential (GO:0060078)3.09186830
102regulation of excitatory postsynaptic membrane potential (GO:0060079)3.07485954
103cellular sodium ion homeostasis (GO:0006883)3.06516223
104positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.05969473
1054-hydroxyproline metabolic process (GO:0019471)3.05317670
106negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.05229074
107axon cargo transport (GO:0008088)3.03369066
108long term synaptic depression (GO:0060292)3.01107040
109cell migration in hindbrain (GO:0021535)2.99372287
110DNA unwinding involved in DNA replication (GO:0006268)2.98801373
111exploration behavior (GO:0035640)2.98519076
112regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.98068301
113positive regulation of membrane potential (GO:0045838)2.97572530
114long-term memory (GO:0007616)2.96024014
115positive regulation of neurotransmitter secretion (GO:0001956)2.95832549
116regulation of neurotransmitter levels (GO:0001505)2.95292499
117dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.94686561
118regulation of neuronal synaptic plasticity (GO:0048168)2.93819310
119positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.93552925
120pentose-phosphate shunt (GO:0006098)2.92756813
121regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.91122863
122behavioral response to cocaine (GO:0048148)2.88863757
123membrane depolarization (GO:0051899)2.88678091
124actin filament depolymerization (GO:0030042)2.88183200
125regulation of mammary gland epithelial cell proliferation (GO:0033599)2.88094130
126regulation of cardioblast differentiation (GO:0051890)2.88088971
127behavioral defense response (GO:0002209)2.87901285
128behavioral fear response (GO:0001662)2.87901285
129neuronal action potential propagation (GO:0019227)2.87355357
130synaptic transmission (GO:0007268)2.85642258
131apoptotic process involved in morphogenesis (GO:0060561)2.83538056
132stress fiber assembly (GO:0043149)2.83142079
133cellular protein complex localization (GO:0034629)2.82492029
134planar cell polarity pathway involved in neural tube closure (GO:0090179)2.80871911
135vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.80790275
136endothelial cell chemotaxis (GO:0035767)2.80627510
137positive regulation of blood vessel endothelial cell migration (GO:0043536)2.80352780
138cell communication involved in cardiac conduction (GO:0086065)2.79680793
139regulation of long-term neuronal synaptic plasticity (GO:0048169)2.79161603
140establishment of vesicle localization (GO:0051650)2.77977273
141fear response (GO:0042596)2.77585235
142endodermal cell differentiation (GO:0035987)2.77451461
143membrane raft organization (GO:0031579)2.76327326
144positive regulation of potassium ion transport (GO:0043268)2.75829460
145negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.74532417
146eye photoreceptor cell development (GO:0042462)2.73837878
147vesicle coating (GO:0006901)2.73619884
148regulation of synaptic plasticity (GO:0048167)2.72589600
149regulation of apoptotic process involved in morphogenesis (GO:1902337)2.69339896
150proline biosynthetic process (GO:0006561)2.68161379
151wound healing, spreading of epidermal cells (GO:0035313)2.66949146
152cellular copper ion homeostasis (GO:0006878)2.64015084
153activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.62096441
154protein targeting to plasma membrane (GO:0072661)2.61936226
155semaphorin-plexin signaling pathway (GO:0071526)2.61806875
156endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.61218604
157positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.60433170
158regulation of mitotic spindle organization (GO:0060236)2.60336649
159regulation of glucocorticoid metabolic process (GO:0031943)2.57658414
160regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.55131895
161positive regulation of nuclease activity (GO:0032075)2.54843119
162cortical actin cytoskeleton organization (GO:0030866)2.54762892
163actin filament bundle organization (GO:0061572)2.54678786
164actin filament bundle assembly (GO:0051017)2.54678786
165basement membrane organization (GO:0071711)2.54306574
166protein complex localization (GO:0031503)2.53519581
167mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.53398773
168wound healing, spreading of cells (GO:0044319)2.53375089
169glucose catabolic process (GO:0006007)2.53225664
170peptidyl-arginine omega-N-methylation (GO:0035247)2.48512650
171endothelial cell morphogenesis (GO:0001886)2.48461339
172regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.47980843
173endocytic recycling (GO:0032456)2.47165779
174atrioventricular valve morphogenesis (GO:0003181)2.46115888
175regulation of the force of heart contraction (GO:0002026)2.44489647
176substrate-dependent cell migration (GO:0006929)2.44417776
177endoplasmic reticulum unfolded protein response (GO:0030968)2.44365717
178protein localization to microtubule (GO:0035372)2.43894053
179regulation of translational termination (GO:0006449)2.42659638
180branching involved in salivary gland morphogenesis (GO:0060445)2.42380970
181ventricular cardiac muscle cell development (GO:0055015)2.42308008
182adherens junction organization (GO:0034332)2.39338244
183NADPH regeneration (GO:0006740)2.38481753
184positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling2.37571205
185regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 2.37571205
186ER-nucleus signaling pathway (GO:0006984)2.35061496
187positive regulation of endothelial cell apoptotic process (GO:2000353)2.34631188
188regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.30693027
189positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.28327815
190regulation of NFAT protein import into nucleus (GO:0051532)2.28156205
191mesodermal cell differentiation (GO:0048333)2.26297500
192maternal placenta development (GO:0001893)2.26250074
193G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.25616296

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.78531244
2GBX2_23144817_ChIP-Seq_PC3_Human3.92126356
3EZH2_22144423_ChIP-Seq_EOC_Human3.65500173
4REST_21632747_ChIP-Seq_MESCs_Mouse3.10484257
5TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.97860697
6E2F7_22180533_ChIP-Seq_HELA_Human2.82377640
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.79247810
8SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.76268033
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.74765617
10TRIM28_21343339_ChIP-Seq_HEK293_Human2.73710494
11DROSHA_22980978_ChIP-Seq_HELA_Human2.72704426
12RARB_27405468_Chip-Seq_BRAIN_Mouse2.70781838
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.70123759
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.67474780
15ZNF263_19887448_ChIP-Seq_K562_Human2.62706665
16SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.59706064
17IKZF1_21737484_ChIP-ChIP_HCT116_Human2.56709336
18* HIF1A_21447827_ChIP-Seq_MCF-7_Human2.56509683
19JARID2_20064375_ChIP-Seq_MESCs_Mouse2.44812380
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.43978661
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.43598259
22* ELK3_25401928_ChIP-Seq_HUVEC_Human2.40912390
23AR_21572438_ChIP-Seq_LNCaP_Human2.37535907
24SMAD_19615063_ChIP-ChIP_OVARY_Human2.36507555
25SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.27882772
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.22233017
27MTF2_20144788_ChIP-Seq_MESCs_Mouse2.17894310
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.15819499
29JARID2_20075857_ChIP-Seq_MESCs_Mouse2.15367402
30* RACK7_27058665_Chip-Seq_MCF-7_Human2.12911058
31FOXM1_23109430_ChIP-Seq_U2OS_Human2.09806448
32LXR_22292898_ChIP-Seq_THP-1_Human2.08305419
33RNF2_18974828_ChIP-Seq_MESCs_Mouse2.06407827
34EZH2_18974828_ChIP-Seq_MESCs_Mouse2.06407827
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.04243424
36SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.04167328
37* CLOCK_20551151_ChIP-Seq_293T_Human2.00527537
38SUZ12_27294783_Chip-Seq_ESCs_Mouse1.98222124
39EZH2_27304074_Chip-Seq_ESCs_Mouse1.97733838
40SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.97343396
41ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.96974867
42VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.96491595
43EZH2_27294783_Chip-Seq_ESCs_Mouse1.94929979
44SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.94813242
45EGR1_19374776_ChIP-ChIP_THP-1_Human1.94433314
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.93905309
47* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.92714018
48SMAD4_21799915_ChIP-Seq_A2780_Human1.92161066
49RNF2_27304074_Chip-Seq_ESCs_Mouse1.92153986
50DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.91291407
51* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.90040068
52PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.89932134
53GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.88552278
54CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88368360
55RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.87493986
56HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.82944439
57ESR2_21235772_ChIP-Seq_MCF-7_Human1.77861420
58* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.77814950
59MYC_18555785_ChIP-Seq_MESCs_Mouse1.76346012
60SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.74580017
61NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.73939683
62* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.73789663
63TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.72736690
64UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.72289693
65CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72046985
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.69479756
67* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.68571127
68MYC_22102868_ChIP-Seq_BL_Human1.68111347
69ATF3_27146783_Chip-Seq_COLON_Human1.67931898
70TAF15_26573619_Chip-Seq_HEK293_Human1.67584621
71* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.66560472
72HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.59440305
73PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59392454
74* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.59081552
75* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.58382141
76SRY_22984422_ChIP-ChIP_TESTIS_Rat1.57664343
77KLF4_18555785_ChIP-Seq_MESCs_Mouse1.55608426
78* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.53922898
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.53564465
80PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.52659359
81RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.52254203
82ZFP57_27257070_Chip-Seq_ESCs_Mouse1.51995313
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.51694134
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.49120174
85MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.48044140
86MYC_19079543_ChIP-ChIP_MESCs_Mouse1.46769825
87VDR_21846776_ChIP-Seq_THP-1_Human1.45741672
88NR3C1_23031785_ChIP-Seq_PC12_Mouse1.45616329
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.45535487
90TP53_22127205_ChIP-Seq_IMR90_Human1.44331613
91CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.43834377
92TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.43431607
93* SOX2_21211035_ChIP-Seq_LN229_Gbm1.41726094
94TET1_21451524_ChIP-Seq_MESCs_Mouse1.41227134
95CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.40635197
96SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.40404065
97SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.40404065
98AR_19668381_ChIP-Seq_PC3_Human1.39622188
99RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39315278
100ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38719114
101AR_21909140_ChIP-Seq_LNCAP_Human1.37876231
102TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34885684
103EED_16625203_ChIP-ChIP_MESCs_Mouse1.34205327
104STAT3_23295773_ChIP-Seq_U87_Human1.34175591
105AR_25329375_ChIP-Seq_VCAP_Human1.33573224
106SMAD3_21741376_ChIP-Seq_EPCs_Human1.33198319
107UBF1/2_26484160_Chip-Seq_HMECs_Human1.32805075
108* P300_19829295_ChIP-Seq_ESCs_Human1.32226143
109NELFA_20434984_ChIP-Seq_ESCs_Mouse1.29839370
110ESR1_15608294_ChIP-ChIP_MCF-7_Human1.29786356
111* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.29539579
112FUS_26573619_Chip-Seq_HEK293_Human1.29488438
113* KDM2B_26808549_Chip-Seq_DND41_Human1.29129011
114* MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.28784632
115IGF1R_20145208_ChIP-Seq_DFB_Human1.28653996
116SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27417815
117* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.25927380
118TCF4_23295773_ChIP-Seq_U87_Human1.24552980
119BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22777804
120TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22227573
121* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.22110407
122PIAS1_25552417_ChIP-Seq_VCAP_Human1.22077551
123GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21466699
124* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.17117697
125THAP11_20581084_ChIP-Seq_MESCs_Mouse1.16894588
126* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15977883
127STAT3_1855785_ChIP-Seq_MESCs_Mouse1.15723129
128* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.15665969
129SMAD3_21741376_ChIP-Seq_HESCs_Human1.15664533
130TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15627158
131NANOG_18555785_ChIP-Seq_MESCs_Mouse1.15527502
132* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.14801320
133DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13949213
134* TCF7_22412390_ChIP-Seq_EML_Mouse1.13428557
135TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13372980
136POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11447955
137SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.10694634
138XRN2_22483619_ChIP-Seq_HELA_Human1.10439710
139* PRDM14_20953172_ChIP-Seq_ESCs_Human1.10040702
140TET1_21490601_ChIP-Seq_MESCs_Mouse1.09501681
141* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09193752
142RNF2_27304074_Chip-Seq_NSC_Mouse1.08600879
143CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.08096662
144STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.07720765
145TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06192424
146CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05937553
147RING1B_27294783_Chip-Seq_ESCs_Mouse1.05293152
148AHR_22903824_ChIP-Seq_MCF-7_Human1.04905236
149SMAD4_21741376_ChIP-Seq_HESCs_Human1.04746817
150ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03825574
151NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.03507873
152* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03006344
153* KDM2B_26808549_Chip-Seq_JURKAT_Human1.02957080
154SA1_27219007_Chip-Seq_ERYTHROID_Human1.02351978
155TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.02327805
156MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01710189
157ZFP281_18757296_ChIP-ChIP_E14_Mouse1.00161011
158EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.99595380
159WT1_25993318_ChIP-Seq_PODOCYTE_Human0.99490236
160TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.99396996
161SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.99257639
162OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99151243
163ARNT_22903824_ChIP-Seq_MCF-7_Human0.98933765
164* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.98076010
165CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97916390
166SMC4_20622854_ChIP-Seq_HELA_Human0.97774911
167FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.97472547
168BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.97223877
169TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96920100
170ESR1_21235772_ChIP-Seq_MCF-7_Human0.96749799
171* SMAD3_21741376_ChIP-Seq_ESCs_Human0.96746926
172ERG_21242973_ChIP-ChIP_JURKAT_Human0.96606009
173STAT6_21828071_ChIP-Seq_BEAS2B_Human0.95880394
174TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.95456162
175UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95334633
176ZFP281_27345836_Chip-Seq_ESCs_Mouse0.95081118
177CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94917171
178ELK4_26923725_Chip-Seq_MESODERM_Mouse0.94515022
179TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.93330078
180* KDM2B_26808549_Chip-Seq_K562_Human0.92915441
181TP53_23651856_ChIP-Seq_MEFs_Mouse0.92857823
182* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.92432875
183SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.91991990
184RING1B_27294783_Chip-Seq_NPCs_Mouse0.91328108
185* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.91327503
186CBP_20019798_ChIP-Seq_JUKART_Human0.91304185
187IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.91304185
188AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89090125
189ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88522339
190TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87646593
191CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86535824
192TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84383587
193POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.84383587

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.70588858
2MP0003705_abnormal_hypodermis_morpholog4.54685576
3MP0008438_abnormal_cutaneous_collagen4.15697696
4MP0002877_abnormal_melanocyte_morpholog4.15540731
5MP0003880_abnormal_central_pattern3.75226628
6MP0003566_abnormal_cell_adhesion3.71590705
7MP0004272_abnormal_basement_membrane3.61354121
8MP0003635_abnormal_synaptic_transmissio3.48218138
9MP0005551_abnormal_eye_electrophysiolog3.25169808
10MP0009046_muscle_twitch3.12628909
11MP0004270_analgesia3.10698607
12MP0005257_abnormal_intraocular_pressure3.10259767
13MP0002822_catalepsy3.09086651
14MP0001968_abnormal_touch/_nociception2.98269271
15MP0009745_abnormal_behavioral_response2.95748958
16MP0002064_seizures2.91664320
17MP0002063_abnormal_learning/memory/cond2.84190082
18MP0002090_abnormal_vision2.63674646
19MP0002734_abnormal_mechanical_nocicepti2.59476213
20MP0010234_abnormal_vibrissa_follicle2.56512298
21MP0002572_abnormal_emotion/affect_behav2.44491388
22MP0000537_abnormal_urethra_morphology2.43960922
23MP0003091_abnormal_cell_migration2.32650553
24MP0002272_abnormal_nervous_system2.31771288
25MP0001984_abnormal_olfaction2.27809408
26MP0005423_abnormal_somatic_nervous2.22098852
27MP0001486_abnormal_startle_reflex2.21949752
28MP0002735_abnormal_chemical_nociception2.20190692
29MP0001849_ear_inflammation2.18238368
30MP0001348_abnormal_lacrimal_gland2.16584636
31MP0002736_abnormal_nociception_after2.15076632
32MP0006072_abnormal_retinal_apoptosis2.13812355
33MP0004858_abnormal_nervous_system2.12896210
34MP0010352_gastrointestinal_tract_polyps2.05276159
35MP0001501_abnormal_sleep_pattern2.04384408
36MP0002067_abnormal_sensory_capabilities2.03809001
37MP0000579_abnormal_nail_morphology2.03384725
38MP0001502_abnormal_circadian_rhythm1.98527250
39MP0004233_abnormal_muscle_weight1.88767731
40MP0003279_aneurysm1.88394621
41MP0005253_abnormal_eye_physiology1.86775242
42MP0002184_abnormal_innervation1.85019176
43MP0001970_abnormal_pain_threshold1.84888341
44MP0010030_abnormal_orbit_morphology1.83216117
45MP0001440_abnormal_grooming_behavior1.82702177
46MP0003941_abnormal_skin_development1.81563014
47MP0002733_abnormal_thermal_nociception1.77974786
48MP0008569_lethality_at_weaning1.76123830
49MP0002060_abnormal_skin_morphology1.75523272
50MP0005023_abnormal_wound_healing1.72276306
51MP0002909_abnormal_adrenal_gland1.70579478
52MP0005386_behavior/neurological_phenoty1.67304214
53MP0004924_abnormal_behavior1.67304214
54MP0003453_abnormal_keratinocyte_physiol1.65823755
55MP0000003_abnormal_adipose_tissue1.64528425
56MP0005076_abnormal_cell_differentiation1.64260769
57MP0001958_emphysema1.63707935
58MP0000762_abnormal_tongue_morphology1.63296480
59MP0003787_abnormal_imprinting1.61487679
60MP0002638_abnormal_pupillary_reflex1.60703226
61MP0004811_abnormal_neuron_physiology1.60142414
62MP0005451_abnormal_body_composition1.55742514
63MP0005501_abnormal_skin_physiology1.53386599
64MP0004215_abnormal_myocardial_fiber1.50847846
65MP0010386_abnormal_urinary_bladder1.50183242
66MP0000013_abnormal_adipose_tissue1.46312839
67MP0002882_abnormal_neuron_morphology1.43688359
68MP0002796_impaired_skin_barrier1.43576741
69MP0002229_neurodegeneration1.43043954
70MP0004084_abnormal_cardiac_muscle1.42902926
71MP0008775_abnormal_heart_ventricle1.42175579
72MP0003879_abnormal_hair_cell1.39237875
73MP0000733_abnormal_muscle_development1.38429566
74MP0004510_myositis1.38246473
75MP0002332_abnormal_exercise_endurance1.38129544
76MP0003329_amyloid_beta_deposits1.36742029
77MP0008260_abnormal_autophagy1.34857289
78MP0000955_abnormal_spinal_cord1.31800047
79MP0002557_abnormal_social/conspecific_i1.29578371
80MP0006276_abnormal_autonomic_nervous1.27880912
81MP0000569_abnormal_digit_pigmentation1.26559420
82MP0001730_embryonic_growth_arrest1.26279315
83MP0005409_darkened_coat_color1.24372201
84MP0003633_abnormal_nervous_system1.23351631
85MP0010368_abnormal_lymphatic_system1.19951043
86MP0005621_abnormal_cell_physiology1.19332049
87MP0000778_abnormal_nervous_system1.19240826
88MP0005330_cardiomyopathy1.18012245
89MP0001529_abnormal_vocalization1.17037261
90MP0000751_myopathy1.15658034
91MP0001188_hyperpigmentation1.15005358
92MP0002066_abnormal_motor_capabilities/c1.15001412
93MP0000747_muscle_weakness1.14135724
94MP0004185_abnormal_adipocyte_glucose1.13338422
95MP0005195_abnormal_posterior_eye1.11920980
96MP0000750_abnormal_muscle_regeneration1.11525123
97MP0000678_abnormal_parathyroid_gland1.10671961
98MP0008932_abnormal_embryonic_tissue1.10193129
99MP0004036_abnormal_muscle_relaxation1.09725121
100MP0003172_abnormal_lysosome_physiology1.08994925
101MP0005275_abnormal_skin_tensile1.08468875
102MP0005499_abnormal_olfactory_system1.08159881
103MP0005394_taste/olfaction_phenotype1.08159881
104MP0002752_abnormal_somatic_nervous1.07405301
105MP0004142_abnormal_muscle_tone1.07070431
106MP0008872_abnormal_physiological_respon1.05421909
107MP0005165_increased_susceptibility_to1.05110532
108MP0000767_abnormal_smooth_muscle1.04957835
109MP0003111_abnormal_nucleus_morphology1.04605254
110MP0000858_altered_metastatic_potential1.02843729
111MP0004087_abnormal_muscle_fiber1.02769021
112MP0000350_abnormal_cell_proliferation1.01838493
113MP0003191_abnormal_cellular_cholesterol1.01252853
114MP0005058_abnormal_lysosome_morphology1.00728267
115MP0009053_abnormal_anal_canal0.97895704
116MP0004957_abnormal_blastocyst_morpholog0.97873315
117MP0010771_integument_phenotype0.97573056
118MP0010630_abnormal_cardiac_muscle0.97332152
119MP0009840_abnormal_foam_cell0.96731528
120MP0005197_abnormal_uvea_morphology0.96480892
121MP0003385_abnormal_body_wall0.96176313
122MP0000467_abnormal_esophagus_morphology0.96052542
123MP0002080_prenatal_lethality0.95633354
124MP0004085_abnormal_heartbeat0.95144231
125MP0003631_nervous_system_phenotype0.94748324
126MP0005375_adipose_tissue_phenotype0.94147070
127MP0002896_abnormal_bone_mineralization0.93646173
128MP0003303_peritoneal_inflammation0.93424332
129MP0001299_abnormal_eye_distance/0.93175837
130MP0001216_abnormal_epidermal_layer0.92753584
131MP0000358_abnormal_cell_content/0.92597744
132MP0005384_cellular_phenotype0.91233095
133MP0002653_abnormal_ependyma_morphology0.89024882
134MP0000534_abnormal_ureter_morphology0.87617062
135MP0002152_abnormal_brain_morphology0.86982034
136MP0005646_abnormal_pituitary_gland0.85536298
137MP0008874_decreased_physiological_sensi0.85027622
138MP0000759_abnormal_skeletal_muscle0.83826358
139MP0009780_abnormal_chondrocyte_physiolo0.83628879
140MP0003077_abnormal_cell_cycle0.83599037
141MP0003984_embryonic_growth_retardation0.83451114
142MP0003634_abnormal_glial_cell0.83005303
143MP0005380_embryogenesis_phenotype0.82396472
144MP0001672_abnormal_embryogenesis/_devel0.82396472
145MP0001243_abnormal_dermal_layer0.81930128
146MP0000462_abnormal_digestive_system0.81145021
147MP0004742_abnormal_vestibular_system0.79601252
148MP0005508_abnormal_skeleton_morphology0.79480631
149MP0002086_abnormal_extraembryonic_tissu0.78969005
150MP0005193_abnormal_anterior_eye0.78160701
151MP0004885_abnormal_endolymph0.77771411
152MP0003137_abnormal_impulse_conducting0.77722627
153MP0003183_abnormal_peptide_metabolism0.77669829
154MP0002069_abnormal_eating/drinking_beha0.76489794
155MP0003300_gastrointestinal_ulcer0.76240460
156MP0002088_abnormal_embryonic_growth/wei0.75555023
157MP0001879_abnormal_lymphatic_vessel0.74422532
158MP0002697_abnormal_eye_size0.74270616
159MP0001915_intracranial_hemorrhage0.73716066
160MP0001905_abnormal_dopamine_level0.73569112
161MP0005248_abnormal_Harderian_gland0.73118432
162MP0003950_abnormal_plasma_membrane0.73065720
163MP0002089_abnormal_postnatal_growth/wei0.71840154
164MP0000604_amyloidosis0.70649226
165MP0002751_abnormal_autonomic_nervous0.69149989
166MP0001614_abnormal_blood_vessel0.68581148
167MP0005620_abnormal_muscle_contractility0.68511506
168MP0004145_abnormal_muscle_electrophysio0.68379029
169MP0006138_congestive_heart_failure0.68217429
170MP0003942_abnormal_urinary_system0.66998876
171MP0001661_extended_life_span0.66893763
172MP0005623_abnormal_meninges_morphology0.65669979
173MP0001697_abnormal_embryo_size0.65227579
174MP0003221_abnormal_cardiomyocyte_apopto0.65095873
175MP0003122_maternal_imprinting0.63964558
176MP0001324_abnormal_eye_pigmentation0.63839778
177MP0004484_altered_response_of0.63633340
178MP0000631_abnormal_neuroendocrine_gland0.63245409
179MP0003045_fibrosis0.63033992
180MP0008961_abnormal_basal_metabolism0.61443615
181MP0004782_abnormal_surfactant_physiolog0.61405801
182MP0002972_abnormal_cardiac_muscle0.59623971
183MP0002127_abnormal_cardiovascular_syste0.59469986
184MP0001963_abnormal_hearing_physiology0.58633646
185MP0006292_abnormal_olfactory_placode0.57561317
186MP0005535_abnormal_body_temperature0.56974095

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)9.03934261
2Epileptic encephalopathy (HP:0200134)6.06831506
3Febrile seizures (HP:0002373)6.04893637
4Premature rupture of membranes (HP:0001788)5.44271586
5Focal motor seizures (HP:0011153)5.20277476
6Central scotoma (HP:0000603)5.06088631
7Myokymia (HP:0002411)4.46980217
8Protrusio acetabuli (HP:0003179)4.40201132
9Absence seizures (HP:0002121)4.39939868
10Focal seizures (HP:0007359)4.35509794
11Visual hallucinations (HP:0002367)4.26334230
12Severe visual impairment (HP:0001141)4.14565982
13Abnormality of macular pigmentation (HP:0008002)4.01844681
14Progressive cerebellar ataxia (HP:0002073)3.88560554
15Dialeptic seizures (HP:0011146)3.87911225
16Atonic seizures (HP:0010819)3.77059062
17Hyperacusis (HP:0010780)3.67678646
18Atrophic scars (HP:0001075)3.59543509
19Scotoma (HP:0000575)3.56636758
20Distal upper limb amyotrophy (HP:0007149)3.41196156
21Upper limb amyotrophy (HP:0009129)3.41196156
22Distal lower limb amyotrophy (HP:0008944)3.38098870
23Generalized tonic-clonic seizures (HP:0002069)3.17697586
24Abnormal rod and cone electroretinograms (HP:0008323)3.13714869
25Hemiparesis (HP:0001269)3.12075246
26Insomnia (HP:0100785)3.08550684
27Fragile skin (HP:0001030)2.99122942
28Dysmetric saccades (HP:0000641)2.98757868
29Short nail (HP:0001799)2.94262861
30Arterial tortuosity (HP:0005116)2.92755181
31Vertebral compression fractures (HP:0002953)2.88046863
32Action tremor (HP:0002345)2.86338925
33Broad face (HP:0000283)2.82594672
34Abnormality of the lower motor neuron (HP:0002366)2.82126801
35Urinary bladder sphincter dysfunction (HP:0002839)2.81248895
36Ulnar bowing (HP:0003031)2.78715385
37Truncal ataxia (HP:0002078)2.75973391
38Gaze-evoked nystagmus (HP:0000640)2.75443233
39Dysdiadochokinesis (HP:0002075)2.75330542
40Wormian bones (HP:0002645)2.73537994
41Vascular tortuosity (HP:0004948)2.72688266
42Distal lower limb muscle weakness (HP:0009053)2.68126631
43Supranuclear gaze palsy (HP:0000605)2.66901375
44Depression (HP:0000716)2.66486680
45Aplasia/Hypoplasia of the fovea (HP:0008060)2.66145747
46Hypoplasia of the fovea (HP:0007750)2.66145747
47Achilles tendon contracture (HP:0001771)2.65223558
48Hand muscle atrophy (HP:0009130)2.63640264
49Decreased central vision (HP:0007663)2.59349878
50Genetic anticipation (HP:0003743)2.58506167
51Spinal rigidity (HP:0003306)2.57190862
52Difficulty climbing stairs (HP:0003551)2.55071900
53Bladder diverticulum (HP:0000015)2.54172124
54Osteolytic defects of the phalanges of the hand (HP:0009771)2.53083223
55Osteolytic defects of the hand bones (HP:0009699)2.53083223
56Bony spicule pigmentary retinopathy (HP:0007737)2.50354114
57Mutism (HP:0002300)2.49406705
58Ankle contracture (HP:0006466)2.49225156
59Hyperventilation (HP:0002883)2.48097662
60Nuclear cataract (HP:0100018)2.48038913
61Abnormality of dentin (HP:0010299)2.46604230
62Shallow orbits (HP:0000586)2.46425331
63Pheochromocytoma (HP:0002666)2.45109005
64Cerebral aneurysm (HP:0004944)2.44807255
65Increased connective tissue (HP:0009025)2.43626014
66Septo-optic dysplasia (HP:0100842)2.43196955
67Trismus (HP:0000211)2.41766633
68Amblyopia (HP:0000646)2.40934578
69Impaired smooth pursuit (HP:0007772)2.40687381
70Mitral regurgitation (HP:0001653)2.37834301
71Selective tooth agenesis (HP:0001592)2.36834969
72Prolonged QT interval (HP:0001657)2.35808166
73Diplopia (HP:0000651)2.32872004
74Abnormality of binocular vision (HP:0011514)2.32872004
75Aortic dissection (HP:0002647)2.31903876
76Abnormality of oral frenula (HP:0000190)2.28895675
77Cervical subluxation (HP:0003308)2.27386828
78Broad-based gait (HP:0002136)2.25882726
79Long palpebral fissure (HP:0000637)2.23312793
80Mildly elevated creatine phosphokinase (HP:0008180)2.22398170
81Abnormality of ocular smooth pursuit (HP:0000617)2.21976372
82Ankle clonus (HP:0011448)2.21367395
83Elbow flexion contracture (HP:0002987)2.20658776
84Impaired vibration sensation in the lower limbs (HP:0002166)2.20492752
85Drooling (HP:0002307)2.20213508
86Excessive salivation (HP:0003781)2.20213508
87Abnormality of the Achilles tendon (HP:0005109)2.19704165
88Abnormality of the fovea (HP:0000493)2.18458324
89Neuroendocrine neoplasm (HP:0100634)2.16994336
90Poor eye contact (HP:0000817)2.15948308
91Cholecystitis (HP:0001082)2.15591554
92Abnormal gallbladder physiology (HP:0012438)2.15591554
93Abnormal social behavior (HP:0012433)2.13270712
94Impaired social interactions (HP:0000735)2.13270712
95Ankyloglossia (HP:0010296)2.13093651
96Generalized hypopigmentation (HP:0007513)2.12096144
97Centrally nucleated skeletal muscle fibers (HP:0003687)2.09332770
98Dysmetria (HP:0001310)2.08991656
99Abnormal eating behavior (HP:0100738)2.07788595
100Urinary urgency (HP:0000012)2.07615436
101Disproportionate tall stature (HP:0001519)2.07495435
102Scanning speech (HP:0002168)2.05358629
103Spinal cord compression (HP:0002176)2.05323699
104Postural instability (HP:0002172)2.05266075
105Progressive inability to walk (HP:0002505)2.04052106
106Elfin facies (HP:0004428)2.03932815
107Albinism (HP:0001022)2.03622659
108Aplasia/Hypoplasia of the macula (HP:0008059)2.01853777
109Spastic gait (HP:0002064)2.00985503
110Cerebral inclusion bodies (HP:0100314)2.00484022
111Epileptiform EEG discharges (HP:0011182)1.98905478
112Ventricular fibrillation (HP:0001663)1.98584844
113Absent speech (HP:0001344)1.97224315
114Abnormal EKG (HP:0003115)1.96238053
115Generalized amyotrophy (HP:0003700)1.96196756
116Ventricular tachycardia (HP:0004756)1.95437436
117Overriding aorta (HP:0002623)1.95277975
118Natal tooth (HP:0000695)1.94832359
119Hypoventilation (HP:0002791)1.94171099
120Dilatation of the ascending aorta (HP:0005111)1.93611877
121Axonal loss (HP:0003447)1.92814635
122EEG with generalized epileptiform discharges (HP:0011198)1.91529985
123Mitral valve prolapse (HP:0001634)1.90205683
124Right ventricular cardiomyopathy (HP:0011663)1.89910808
125Gait imbalance (HP:0002141)1.89880683
126Blue sclerae (HP:0000592)1.89662140
127Bradykinesia (HP:0002067)1.88834387
128Aplasia/Hypoplasia affecting the retina (HP:0008061)1.87768670
129Astrocytoma (HP:0009592)1.87649474
130Abnormality of the astrocytes (HP:0100707)1.87649474
131Distal sensory impairment (HP:0002936)1.86275101
132Hammertoe (HP:0001765)1.85678197
133Anxiety (HP:0000739)1.85344033
134Renal duplication (HP:0000075)1.84873238
135Polyphagia (HP:0002591)1.84052494
136Deviation of the thumb (HP:0009603)1.83725860
137Lower limb muscle weakness (HP:0007340)1.83422772
138Aplasia involving bones of the extremities (HP:0009825)1.81707097
139Aplasia involving bones of the upper limbs (HP:0009823)1.81707097
140Aplasia of the phalanges of the hand (HP:0009802)1.81707097
141Amyotrophic lateral sclerosis (HP:0007354)1.81465827
142Inappropriate behavior (HP:0000719)1.81168658
143Neoplasm of the heart (HP:0100544)1.81166047
144Nail dystrophy (HP:0008404)1.81025831
145Hyperparathyroidism (HP:0000843)1.80585709
146Neurofibrillary tangles (HP:0002185)1.80516840
147Termporal pattern (HP:0011008)1.80400532
148Insidious onset (HP:0003587)1.80400532
149Hemiplegia (HP:0002301)1.79881659
150Ragged-red muscle fibers (HP:0003200)1.79653393
151Abnormality of the distal phalanges of the toes (HP:0010182)1.79154968
152Patellar dislocation (HP:0002999)1.78258353
153Entropion (HP:0000621)1.76779708
154Progressive muscle weakness (HP:0003323)1.76498408
155Bowel diverticulosis (HP:0005222)1.76344767
156Genu recurvatum (HP:0002816)1.75910477
157Reduced subcutaneous adipose tissue (HP:0003758)1.75614792
158Syncope (HP:0001279)1.74715012
159Hyperextensible skin (HP:0000974)1.73902644
160Upper limb muscle weakness (HP:0003484)1.73588468
161Onycholysis (HP:0001806)1.72336372
162Bowing of the arm (HP:0006488)1.72169378
163Bowed forearm bones (HP:0003956)1.72169378
164Pointed chin (HP:0000307)1.71380540
165Abnormality of glycolysis (HP:0004366)1.70673392
166Inability to walk (HP:0002540)1.70193527
167Milia (HP:0001056)1.68388236
168Hypercortisolism (HP:0001578)1.68282600
169Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.68238932
170Atrial fibrillation (HP:0005110)1.66975475
171Specific learning disability (HP:0001328)1.66526229
172Primary atrial arrhythmia (HP:0001692)1.66498032
173Open mouth (HP:0000194)1.66445274
174Incomplete penetrance (HP:0003829)1.66368927
175Hypokinesia (HP:0002375)1.64818643
176Pterygium (HP:0001059)1.64797466
177Abnormal hair whorl (HP:0010721)1.64379613
178Lower limb amyotrophy (HP:0007210)1.64317021
179Abnormality of the umbilical cord (HP:0010881)1.64087158
180Congenital glaucoma (HP:0001087)1.63370886
181Flat cornea (HP:0007720)1.63246065
182Ependymoma (HP:0002888)1.62361872
183Stereotypic behavior (HP:0000733)1.62055798
184Attenuation of retinal blood vessels (HP:0007843)1.62040629
185Back pain (HP:0003418)1.62007199
186Blue irides (HP:0000635)1.61467862
187Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.60917142
188Interstitial pulmonary disease (HP:0006530)1.59238942
189Tetraparesis (HP:0002273)1.58652100
190Glucose intolerance (HP:0000833)1.58086422
191Broad distal phalanx of finger (HP:0009836)1.57312286
192Abnormality of the distal phalanx of the thumb (HP:0009617)1.57221934

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.08397717
2TRIB33.52534812
3MAP3K43.36591505
4EPHA23.34491890
5NTRK33.28474226
6EPHA42.85738122
7MINK12.83703108
8RIPK42.83185958
9PAK62.73865533
10MST1R2.73804208
11NME22.70926523
12TTN2.70631843
13CASK2.60767238
14IRAK32.58952482
15SMG12.55223619
16NEK12.37318824
17TESK12.33619741
18MAP2K72.29091889
19LATS22.28415666
20MARK12.25752892
21DAPK22.25181326
22ICK2.16861678
23MAP3K122.07600937
24PTK22.03460392
25KSR22.02211125
26NTRK11.97417926
27PAK41.96822452
28MET1.94427946
29EEF2K1.87441262
30NTRK21.80849811
31PDGFRA1.72449852
32GRK51.72124424
33PRPF4B1.68958005
34SIK11.68921881
35LIMK11.67717318
36MAP3K131.67253776
37MOS1.65894241
38STK381.61726789
39MAP2K41.58494031
40DAPK11.53905437
41CDK121.41706025
42CAMKK11.41524069
43KSR11.41396606
44PLK21.38199933
45FES1.36516343
46CDK51.35068612
47SIK21.30756644
48AKT31.29319548
49TESK21.27090447
50PIM21.26219319
51PHKG21.24672090
52PHKG11.24672090
53LMTK21.23107434
54ERN11.19561798
55CDK191.16784124
56EPHB21.15446026
57BUB11.12002600
58FLT31.08242016
59ARAF1.05083358
60RIPK11.02752158
61PRKCG0.99766762
62DYRK1A0.96796920
63PAK20.96493295
64MYLK0.96341513
65EPHB10.95376957
66BRAF0.94933559
67MAP3K80.94899810
68CAMKK20.93734719
69SIK30.93380450
70CDK140.92708619
71CDK80.91867756
72CDK180.91831633
73TAOK10.89504159
74TNIK0.89231248
75CDK150.88786944
76MAPKAPK30.87446551
77RPS6KB20.86599400
78MTOR0.86305805
79TNK20.85897351
80NME10.85882027
81RET0.85393058
82ERBB40.84302710
83ILK0.83807379
84MAPK130.80014256
85SGK20.78979861
86CAMK2A0.77450718
87SGK2230.75540611
88SGK4940.75540611
89CDK11A0.74585278
90SGK30.74418383
91WNK10.74338069
92PNCK0.74297430
93PBK0.73793855
94CAMK2B0.72882750
95AURKA0.72715743
96GRK70.72325206
97ALK0.72113243
98STK100.71507943
99PRKCH0.69649704
100MAP3K70.68950453
101TRPM70.66795687
102RAF10.66693025
103CAMK2G0.66553242
104PTK2B0.66458057
105FGR0.66369861
106PDK10.66126049
107RPS6KA20.65554404
108BRSK10.65402895
109PAK10.64503605
110CDC42BPA0.63845652
111DAPK30.63096860
112CAMK10.62766342
113DMPK0.62217203
114STK110.61879106
115PRKD30.61640163
116PTK60.60522671
117BMX0.59369953
118SGK10.58242549
119TXK0.57677973
120DDR20.57123242
121PKN20.56987272
122AKT20.56616972
123TYRO30.56279773
124MAP3K20.54784816
125PRKG20.54351197
126CAMK2D0.53050382
127PRKCE0.52713009
128MAPK100.51632999
129LRRK20.51369538
130RPS6KA30.51160625
131FYN0.50408041
132NEK90.49146725
133ROCK20.49112520
134BMPR20.48918273
135PDK30.48503181
136PDK40.48503181
137SCYL20.48417008
138PRKCB0.48229978
139ADRBK10.48136356
140YES10.47881943
141CCNB10.46353674
142TSSK60.46265937
143CAMK40.46105336
144MAP3K30.46019481
145FGFR40.45517861
146MAP3K10.44440257
147MAPK110.44435939
148GRK60.43508775
149FER0.43380000
150PAK30.43017988
151PDPK10.42486947
152MAP3K100.42024401
153ABL20.41838638
154UHMK10.41781044
155CAMK1G0.41579328
156CDK90.41378351
157ROCK10.41124694
158TTK0.40537147
159CDK70.39574394
160JAK10.38652964
161MATK0.38354981
162MAP3K110.38292834
163EIF2AK10.38214642
164TAOK20.37004564
165KDR0.36541570
166AURKB0.34928045
167MELK0.34489044

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.80170036
2Nicotine addiction_Homo sapiens_hsa050333.43057764
3Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.09620658
4GABAergic synapse_Homo sapiens_hsa047272.60878049
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47187850
6Morphine addiction_Homo sapiens_hsa050322.44024106
7Olfactory transduction_Homo sapiens_hsa047402.43231117
8Circadian entrainment_Homo sapiens_hsa047132.30511224
9Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.14770815
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.11885898
11* Biosynthesis of amino acids_Homo sapiens_hsa012302.02229595
12Collecting duct acid secretion_Homo sapiens_hsa049662.01117628
13Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.97213161
14Glutamatergic synapse_Homo sapiens_hsa047241.94762912
15Salivary secretion_Homo sapiens_hsa049701.91383571
16ECM-receptor interaction_Homo sapiens_hsa045121.86803712
17Long-term potentiation_Homo sapiens_hsa047201.83305781
18Phototransduction_Homo sapiens_hsa047441.81698375
19Focal adhesion_Homo sapiens_hsa045101.81614899
20* Pentose phosphate pathway_Homo sapiens_hsa000301.81514511
21Dopaminergic synapse_Homo sapiens_hsa047281.80288905
22Renin secretion_Homo sapiens_hsa049241.79163834
23Insulin secretion_Homo sapiens_hsa049111.76158747
24Bladder cancer_Homo sapiens_hsa052191.76063226
25Cholinergic synapse_Homo sapiens_hsa047251.75286358
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.61749231
272-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.61355447
28Amphetamine addiction_Homo sapiens_hsa050311.61138123
29Oxytocin signaling pathway_Homo sapiens_hsa049211.59244950
30Chronic myeloid leukemia_Homo sapiens_hsa052201.55305646
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.54418644
32Serotonergic synapse_Homo sapiens_hsa047261.54167732
33Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.53789164
34Small cell lung cancer_Homo sapiens_hsa052221.53004259
35Adherens junction_Homo sapiens_hsa045201.48964159
36* Galactose metabolism_Homo sapiens_hsa000521.46334664
37Cardiac muscle contraction_Homo sapiens_hsa042601.43670387
38Taste transduction_Homo sapiens_hsa047421.39095339
39Aldosterone synthesis and secretion_Homo sapiens_hsa049251.37368301
40Prion diseases_Homo sapiens_hsa050201.36578969
41Long-term depression_Homo sapiens_hsa047301.36189533
42Proteoglycans in cancer_Homo sapiens_hsa052051.35157898
43Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.34724042
44Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.34621691
45Calcium signaling pathway_Homo sapiens_hsa040201.34375620
46* Carbon metabolism_Homo sapiens_hsa012001.31870257
47Gastric acid secretion_Homo sapiens_hsa049711.28838292
48Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26008928
49AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.24100075
50Pancreatic cancer_Homo sapiens_hsa052121.22912433
51Thyroid cancer_Homo sapiens_hsa052161.22101154
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22081214
53Vitamin B6 metabolism_Homo sapiens_hsa007501.21747425
54DNA replication_Homo sapiens_hsa030301.20596882
55Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18875605
56Amoebiasis_Homo sapiens_hsa051461.16407436
57Type II diabetes mellitus_Homo sapiens_hsa049301.15779065
58Shigellosis_Homo sapiens_hsa051311.14965436
59Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13842815
60Vibrio cholerae infection_Homo sapiens_hsa051101.13290158
61Gap junction_Homo sapiens_hsa045401.13163895
62GnRH signaling pathway_Homo sapiens_hsa049121.12788485
63Dilated cardiomyopathy_Homo sapiens_hsa054141.11799795
64Cocaine addiction_Homo sapiens_hsa050301.10216490
65Circadian rhythm_Homo sapiens_hsa047101.07906220
66cAMP signaling pathway_Homo sapiens_hsa040241.07616089
67cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07124991
68Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05742722
69Type I diabetes mellitus_Homo sapiens_hsa049401.04710178
70Hippo signaling pathway_Homo sapiens_hsa043901.03223733
71MicroRNAs in cancer_Homo sapiens_hsa052061.00778611
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99645557
73Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.99173109
74Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95782371
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.92005128
76N-Glycan biosynthesis_Homo sapiens_hsa005100.91594083
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.90970450
78Tight junction_Homo sapiens_hsa045300.90881085
79Rheumatoid arthritis_Homo sapiens_hsa053230.89451950
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.88103854
81Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.88028968
82Non-small cell lung cancer_Homo sapiens_hsa052230.86816360
83Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.86783182
84Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.82443091
85mTOR signaling pathway_Homo sapiens_hsa041500.81923776
86ErbB signaling pathway_Homo sapiens_hsa040120.80029077
87Cell cycle_Homo sapiens_hsa041100.79966426
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.79550964
89MAPK signaling pathway_Homo sapiens_hsa040100.79527456
90Sulfur relay system_Homo sapiens_hsa041220.79312974
91Viral carcinogenesis_Homo sapiens_hsa052030.79183319
92* Central carbon metabolism in cancer_Homo sapiens_hsa052300.78775144
93HIF-1 signaling pathway_Homo sapiens_hsa040660.77358527
94Other glycan degradation_Homo sapiens_hsa005110.76584064
95Glycosaminoglycan degradation_Homo sapiens_hsa005310.75361105
96Glioma_Homo sapiens_hsa052140.74728196
97Leukocyte transendothelial migration_Homo sapiens_hsa046700.74302003
98Estrogen signaling pathway_Homo sapiens_hsa049150.74155946
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73991962
100Inositol phosphate metabolism_Homo sapiens_hsa005620.73970251
101Apoptosis_Homo sapiens_hsa042100.73548135
102Insulin signaling pathway_Homo sapiens_hsa049100.70181108
103Phospholipase D signaling pathway_Homo sapiens_hsa040720.67043956
104Pathways in cancer_Homo sapiens_hsa052000.65397395
105Melanoma_Homo sapiens_hsa052180.64726356
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.63452662
107Chemokine signaling pathway_Homo sapiens_hsa040620.63093386
108Oocyte meiosis_Homo sapiens_hsa041140.61707017
109Neurotrophin signaling pathway_Homo sapiens_hsa047220.60728193
110Allograft rejection_Homo sapiens_hsa053300.60677489
111Acute myeloid leukemia_Homo sapiens_hsa052210.60369659
112VEGF signaling pathway_Homo sapiens_hsa043700.60046210
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.59617479
114Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.59598885
115Notch signaling pathway_Homo sapiens_hsa043300.59084194
116Axon guidance_Homo sapiens_hsa043600.58807810
117Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58158890
118Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57345173
119Graft-versus-host disease_Homo sapiens_hsa053320.57340385
120Cyanoamino acid metabolism_Homo sapiens_hsa004600.57225838
121Mineral absorption_Homo sapiens_hsa049780.56866620
122Dorso-ventral axis formation_Homo sapiens_hsa043200.56756855
123* Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54089608
124Salmonella infection_Homo sapiens_hsa051320.54068638
125Folate biosynthesis_Homo sapiens_hsa007900.53914807
126Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53399816
127HTLV-I infection_Homo sapiens_hsa051660.53390859
128Choline metabolism in cancer_Homo sapiens_hsa052310.51976953
129Renal cell carcinoma_Homo sapiens_hsa052110.50222615
130Phagosome_Homo sapiens_hsa041450.50137175
131Endocytosis_Homo sapiens_hsa041440.49592108
132African trypanosomiasis_Homo sapiens_hsa051430.49459023
133Pancreatic secretion_Homo sapiens_hsa049720.49361810
134Sphingolipid signaling pathway_Homo sapiens_hsa040710.49030962
135Melanogenesis_Homo sapiens_hsa049160.48835292
136Alcoholism_Homo sapiens_hsa050340.46580414
137Hepatitis B_Homo sapiens_hsa051610.46209260
138Endometrial cancer_Homo sapiens_hsa052130.45830128
139Protein digestion and absorption_Homo sapiens_hsa049740.45766444
140Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45418139
141Tuberculosis_Homo sapiens_hsa051520.45402872
142Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.45143979
143* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.44731259
144Glucagon signaling pathway_Homo sapiens_hsa049220.44630518
145T cell receptor signaling pathway_Homo sapiens_hsa046600.44232361
146Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.43419214
147* Fructose and mannose metabolism_Homo sapiens_hsa000510.43278895
148Nucleotide excision repair_Homo sapiens_hsa034200.43152740
149Ras signaling pathway_Homo sapiens_hsa040140.42904837
150Autoimmune thyroid disease_Homo sapiens_hsa053200.41379963
151Prostate cancer_Homo sapiens_hsa052150.41333956
152Pyrimidine metabolism_Homo sapiens_hsa002400.41040864
153Colorectal cancer_Homo sapiens_hsa052100.40850684
154Rap1 signaling pathway_Homo sapiens_hsa040150.40263448
155Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.36440665
156Thyroid hormone synthesis_Homo sapiens_hsa049180.35428819
157Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.34386457

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