CCKBR

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 G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle docking involved in exocytosis (GO:0016081)7.26650885
2glutamate secretion (GO:0014047)6.68954768
3synaptic vesicle exocytosis (GO:0016079)6.49879045
4regulation of short-term neuronal synaptic plasticity (GO:0048172)6.33479427
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.11867431
6regulation of synaptic vesicle exocytosis (GO:2000300)5.97795385
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.88901084
8regulation of mesoderm development (GO:2000380)5.87338582
9synaptic vesicle maturation (GO:0016188)5.78135083
10anterior/posterior axis specification, embryo (GO:0008595)5.61428951
11cell migration involved in gastrulation (GO:0042074)5.59924044
12vocalization behavior (GO:0071625)5.54056310
13protein localization to synapse (GO:0035418)5.45332449
14negative regulation of activin receptor signaling pathway (GO:0032926)5.41970256
15regulation of glutamate receptor signaling pathway (GO:1900449)5.22580323
16locomotory exploration behavior (GO:0035641)5.21919781
17regulation of synaptic vesicle transport (GO:1902803)5.21053342
18neuronal action potential propagation (GO:0019227)4.97597256
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.96685377
20neuron cell-cell adhesion (GO:0007158)4.94898649
21neurotransmitter-gated ion channel clustering (GO:0072578)4.94061029
22positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.85082613
23regulation of cardioblast differentiation (GO:0051890)4.70027111
24nodal signaling pathway (GO:0038092)4.64530729
25ionotropic glutamate receptor signaling pathway (GO:0035235)4.61614429
26presynaptic membrane assembly (GO:0097105)4.57808709
27somite rostral/caudal axis specification (GO:0032525)4.54835050
28neurotransmitter secretion (GO:0007269)4.48469730
29synaptic transmission, glutamatergic (GO:0035249)4.48063345
30digestive tract morphogenesis (GO:0048546)4.31412347
31neuron-neuron synaptic transmission (GO:0007270)4.26718513
32positive regulation of neurotransmitter secretion (GO:0001956)4.26050708
33regulation of long-term neuronal synaptic plasticity (GO:0048169)4.23848769
34presynaptic membrane organization (GO:0097090)4.22053320
35glutamate receptor signaling pathway (GO:0007215)4.21214279
36regulation of excitatory postsynaptic membrane potential (GO:0060079)4.20997283
37regulation of neuronal synaptic plasticity (GO:0048168)4.19312993
38positive regulation of membrane potential (GO:0045838)4.19137336
39long-term synaptic potentiation (GO:0060291)4.19117057
40female gonad development (GO:0008585)4.16630797
41branching involved in labyrinthine layer morphogenesis (GO:0060670)4.15809020
42postsynaptic membrane organization (GO:0001941)4.15388240
43primitive streak formation (GO:0090009)4.12514756
44negative regulation of synaptic transmission, GABAergic (GO:0032229)4.10153794
45signal transduction involved in regulation of gene expression (GO:0023019)4.09323650
46response to BMP (GO:0071772)4.09122091
47cellular response to BMP stimulus (GO:0071773)4.09122091
48regulation of postsynaptic membrane potential (GO:0060078)4.07413288
49regulation of neurotransmitter secretion (GO:0046928)4.03113778
50anterior/posterior axis specification (GO:0009948)4.02979241
51regulation of activin receptor signaling pathway (GO:0032925)4.02437967
52regulation of gastrulation (GO:0010470)3.96835199
53regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.92962500
54positive regulation of neurotransmitter transport (GO:0051590)3.92861792
55positive regulation of cardiac muscle cell proliferation (GO:0060045)3.92402984
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.90163200
57regulation of synaptic plasticity (GO:0048167)3.86040340
58exploration behavior (GO:0035640)3.83465439
59regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.83291402
60endoderm formation (GO:0001706)3.81082422
61response to histamine (GO:0034776)3.80017483
62L-serine transport (GO:0015825)3.78288641
63L-ascorbic acid metabolic process (GO:0019852)3.78038616
64regulation of cofactor metabolic process (GO:0051193)3.77120922
65regulation of coenzyme metabolic process (GO:0051196)3.77120922
66cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.69471604
67notochord development (GO:0030903)3.69078363
68proline transport (GO:0015824)3.68458904
69embryonic axis specification (GO:0000578)3.68331822
70membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.66604660
71negative regulation of cell fate specification (GO:0009996)3.62762863
72neurotransmitter transport (GO:0006836)3.62758286
73mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.55536626
74regulation of neurotransmitter transport (GO:0051588)3.53837296
75positive regulation of cardiac muscle tissue growth (GO:0055023)3.52028040
76cerebellar granule cell differentiation (GO:0021707)3.50442949
77regulation of voltage-gated calcium channel activity (GO:1901385)3.50331934
78regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.49321126
79synaptic vesicle endocytosis (GO:0048488)3.48512994
80regulation of acyl-CoA biosynthetic process (GO:0050812)3.48312897
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.47933994
82layer formation in cerebral cortex (GO:0021819)3.46876348
83long-term memory (GO:0007616)3.44511646
84positive regulation of synapse maturation (GO:0090129)3.43974431
85phospholipid scrambling (GO:0017121)3.42260383
86dendritic spine morphogenesis (GO:0060997)3.42208697
87neuron recognition (GO:0008038)3.40196558
88positive regulation of synaptic transmission (GO:0050806)3.36837094
89regulation of cholesterol esterification (GO:0010872)3.35904856
90positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34657853
91cerebellar Purkinje cell differentiation (GO:0021702)3.33941518
92SMAD protein signal transduction (GO:0060395)3.30929466
93regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.29065650
94G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.28746746
95regulation of dendritic spine morphogenesis (GO:0061001)3.28109611
96serine transport (GO:0032329)3.28098045
97cardiac right ventricle morphogenesis (GO:0003215)3.27643816
98cellular response to gonadotropin stimulus (GO:0071371)3.27503964
99activation of protein kinase A activity (GO:0034199)3.27028759
100negative regulation of dendrite morphogenesis (GO:0050774)3.26818914
101regulation of neurotransmitter levels (GO:0001505)3.25295542
102membrane depolarization (GO:0051899)3.25232301
103gamma-aminobutyric acid transport (GO:0015812)3.24780705
104G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.23584552
105membrane hyperpolarization (GO:0060081)3.22963551
106regulation of synapse structural plasticity (GO:0051823)3.22775063
107behavioral response to cocaine (GO:0048148)3.20226314
108startle response (GO:0001964)3.19739460
109axonal fasciculation (GO:0007413)3.18900785
110regulation of vesicle fusion (GO:0031338)3.16911019
111cellular potassium ion homeostasis (GO:0030007)3.16462034
112cardiac muscle adaptation (GO:0014887)3.16105953
113cardiac muscle hypertrophy in response to stress (GO:0014898)3.16105953
114muscle hypertrophy in response to stress (GO:0003299)3.16105953
115phospholipid efflux (GO:0033700)3.15952411
116regulation of synaptic transmission (GO:0050804)3.15422235
117negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.15232684
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.15076960
119regulation of glutamate secretion (GO:0014048)3.14675082
120regulation of transforming growth factor beta2 production (GO:0032909)3.14357533
121energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.13871691
122ATP hydrolysis coupled proton transport (GO:0015991)3.13871691
123transferrin transport (GO:0033572)3.13768888
124regulation of cell fate specification (GO:0042659)3.11708429
125response to gonadotropin (GO:0034698)3.11283832
126regulation of dendritic spine development (GO:0060998)3.09545183
127mechanosensory behavior (GO:0007638)3.08820593
128chromatin remodeling at centromere (GO:0031055)3.07318110
129embryonic pattern specification (GO:0009880)3.07054764
130regulation of cardiac muscle cell proliferation (GO:0060043)3.06403735
131calcium ion-dependent exocytosis (GO:0017156)3.05781789
132synaptic transmission (GO:0007268)3.04251974
133long term synaptic depression (GO:0060292)3.03190928
134positive regulation of heart growth (GO:0060421)3.02569815
135establishment of synaptic vesicle localization (GO:0097480)3.01555624
136synaptic vesicle transport (GO:0048489)3.01555624
137embryonic foregut morphogenesis (GO:0048617)3.01104315
138righting reflex (GO:0060013)2.99340377
139* acid secretion (GO:0046717)2.98760766
140L-amino acid import (GO:0043092)2.98744586
141positive regulation of synaptic transmission, GABAergic (GO:0032230)2.97930186
142negative regulation of JUN kinase activity (GO:0043508)2.97834117
143negative regulation of amino acid transport (GO:0051956)2.97828109
144peptidyl-cysteine modification (GO:0018198)2.97361332
145protein autoprocessing (GO:0016540)2.97158105
146learning (GO:0007612)2.96900416
147sequestering of extracellular ligand from receptor (GO:0035581)2.95781748
148neuromuscular process controlling posture (GO:0050884)2.95496032
149estrogen biosynthetic process (GO:0006703)2.95425562
150histone exchange (GO:0043486)2.94409721
151kidney morphogenesis (GO:0060993)2.93433658
152CENP-A containing nucleosome assembly (GO:0034080)2.92868359
153DNA strand renaturation (GO:0000733)2.92798617
154auditory behavior (GO:0031223)2.92528383
155response to follicle-stimulating hormone (GO:0032354)2.91911737
156negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91619695
157positive regulation of synapse assembly (GO:0051965)2.91544332
158ferric iron transport (GO:0015682)2.91265149
159trivalent inorganic cation transport (GO:0072512)2.91265149
160plasma lipoprotein particle assembly (GO:0034377)2.89291097
161negative regulation of dendrite development (GO:2000171)2.87773737
162detection of calcium ion (GO:0005513)2.87645419
163fat-soluble vitamin catabolic process (GO:0042363)2.85395081
164vitamin catabolic process (GO:0009111)2.85395081
165positive regulation of SMAD protein import into nucleus (GO:0060391)2.84978064
166regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.84216277
167glucocorticoid metabolic process (GO:0008211)2.82358297
168atrioventricular valve morphogenesis (GO:0003181)2.81250202
169high-density lipoprotein particle remodeling (GO:0034375)2.81023420
170positive regulation of cardiac muscle tissue development (GO:0055025)2.78599207
171negative regulation of cell fate commitment (GO:0010454)2.77617044
172reverse cholesterol transport (GO:0043691)2.77233862
173otic vesicle formation (GO:0030916)2.74669883
174dorsal/ventral axis specification (GO:0009950)2.74009176
175regulation of sulfur metabolic process (GO:0042762)2.73343355
176L-alpha-amino acid transmembrane transport (GO:1902475)2.72769101
177glucocorticoid biosynthetic process (GO:0006704)2.71439091
178gastrulation (GO:0007369)2.69638201
179regulation of tight junction assembly (GO:2000810)2.68316453
180keratinocyte development (GO:0003334)2.65992009
181protein-lipid complex assembly (GO:0065005)2.64974377
182negative regulation of androgen receptor signaling pathway (GO:0060766)2.64848894
183L-serine metabolic process (GO:0006563)2.61435174
184cholesterol biosynthetic process (GO:0006695)2.60173303
185establishment of protein localization to mitochondrial membrane (GO:0090151)2.59077827
186regulation of cellular respiration (GO:0043457)2.58956346
187DNA double-strand break processing (GO:0000729)2.54898774
188chaperone-mediated protein transport (GO:0072321)2.51864898
189regulation of stem cell maintenance (GO:2000036)2.49560539
190convergent extension (GO:0060026)2.48535459
191lactate metabolic process (GO:0006089)2.47877525
192sterol biosynthetic process (GO:0016126)2.47133143
193activin receptor signaling pathway (GO:0032924)2.46090302
194pre-miRNA processing (GO:0031054)2.46084410
195negative regulation of keratinocyte proliferation (GO:0010839)2.44875501
196mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.44402260
197outflow tract septum morphogenesis (GO:0003148)2.43126959
198axis specification (GO:0009798)2.42620769
199proteasome assembly (GO:0043248)2.41037128
200phospholipid homeostasis (GO:0055091)2.39750980

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.58435570
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.18992482
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.56168503
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.56168503
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.56168503
6GBX2_23144817_ChIP-Seq_PC3_Human4.17577681
7* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.17813153
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.04399987
9JARID2_20064375_ChIP-Seq_MESCs_Mouse2.96818848
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96582867
11NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.92205715
12REST_21632747_ChIP-Seq_MESCs_Mouse2.74755650
13RARB_27405468_Chip-Seq_BRAIN_Mouse2.64197749
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62640041
15EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61028661
16RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61028661
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.53453766
18* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47849266
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.47802407
20DROSHA_22980978_ChIP-Seq_HELA_Human2.47581210
21* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.43371884
22* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.39659364
23TAF15_26573619_Chip-Seq_HEK293_Human2.39375608
24* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36386379
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.33640463
26* SMAD4_21741376_ChIP-Seq_HESCs_Human2.31177791
27REST_18959480_ChIP-ChIP_MESCs_Mouse2.28857515
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25191087
29NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.25153142
30* EOMES_21245162_ChIP-Seq_HESCs_Human2.23699011
31* EED_16625203_ChIP-ChIP_MESCs_Mouse2.21771266
32* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.15476840
33EZH2_27294783_Chip-Seq_ESCs_Mouse2.06970891
34RNF2_27304074_Chip-Seq_ESCs_Mouse2.05779380
35TCF3_18692474_ChIP-Seq_MEFs_Mouse2.04927670
36POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.03093730
37POU5F1_16153702_ChIP-ChIP_HESCs_Human2.01811083
38NANOG_16153702_ChIP-ChIP_HESCs_Human2.00496820
39AR_21572438_ChIP-Seq_LNCaP_Human1.98768045
40ESR1_15608294_ChIP-ChIP_MCF-7_Human1.96666739
41CREB1_15753290_ChIP-ChIP_HEK293T_Human1.93902421
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.93835598
43GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.91847582
44IKZF1_21737484_ChIP-ChIP_HCT116_Human1.89597248
45CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.86737004
46GABP_17652178_ChIP-ChIP_JURKAT_Human1.86341220
47* MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.85139674
48SMAD4_21799915_ChIP-Seq_A2780_Human1.83460921
49GATA1_26923725_Chip-Seq_HPCs_Mouse1.80822946
50ZFP57_27257070_Chip-Seq_ESCs_Mouse1.77804797
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76942889
52CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.76479626
53SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.68938472
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.66832473
55ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.65441349
56* P300_19829295_ChIP-Seq_ESCs_Human1.64812736
57EST1_17652178_ChIP-ChIP_JURKAT_Human1.63578533
58GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62503583
59ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.60759841
60MYC_19079543_ChIP-ChIP_MESCs_Mouse1.56221604
61FLI1_27457419_Chip-Seq_LIVER_Mouse1.55341306
62MYC_18555785_ChIP-Seq_MESCs_Mouse1.51227980
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.49919455
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.46920335
65SMAD3_21741376_ChIP-Seq_EPCs_Human1.46049927
66ERG_21242973_ChIP-ChIP_JURKAT_Human1.44906474
67TCF3_18692474_ChIP-Seq_MESCs_Mouse1.43000414
68PIAS1_25552417_ChIP-Seq_VCAP_Human1.42682167
69SOX2_16153702_ChIP-ChIP_HESCs_Human1.42303552
70PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.41658133
71TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.40629445
72EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.39125836
73FUS_26573619_Chip-Seq_HEK293_Human1.38963240
74SOX2_21211035_ChIP-Seq_LN229_Gbm1.36770485
75NELFA_20434984_ChIP-Seq_ESCs_Mouse1.36120667
76AR_21909140_ChIP-Seq_LNCAP_Human1.35910523
77AR_25329375_ChIP-Seq_VCAP_Human1.35302095
78ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.35103253
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.34734331
80MYC_19030024_ChIP-ChIP_MESCs_Mouse1.34603630
81POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34528532
82TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.32352172
83E2F1_18555785_ChIP-Seq_MESCs_Mouse1.30594227
84WT1_19549856_ChIP-ChIP_CCG9911_Human1.29617628
85TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29355049
86VDR_22108803_ChIP-Seq_LS180_Human1.28884242
87POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.28748082
88CBX2_27304074_Chip-Seq_ESCs_Mouse1.28112250
89OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26261941
90NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26016207
91P53_22127205_ChIP-Seq_FIBROBLAST_Human1.25167455
92BMI1_23680149_ChIP-Seq_NPCS_Mouse1.23768134
93RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.22108358
94SALL1_21062744_ChIP-ChIP_HESCs_Human1.21395437
95PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.21146064
96STAT3_23295773_ChIP-Seq_U87_Human1.21124192
97RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21119542
98TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.20889638
99THAP11_20581084_ChIP-Seq_MESCs_Mouse1.20358464
100TCF4_23295773_ChIP-Seq_U87_Human1.20061908
101SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19660152
102NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.19558550
103PCGF2_27294783_Chip-Seq_ESCs_Mouse1.19009307
104ZNF274_21170338_ChIP-Seq_K562_Hela1.18381012
105JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.18375538
106RNF2_27304074_Chip-Seq_NSC_Mouse1.17955399
107* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.17476312
108AR_19668381_ChIP-Seq_PC3_Human1.16469489
109ARNT_22903824_ChIP-Seq_MCF-7_Human1.16393454
110FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.16308505
111HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.15682134
112PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.15185672
113RXR_22108803_ChIP-Seq_LS180_Human1.12214754
114RING1B_27294783_Chip-Seq_ESCs_Mouse1.12001514
115NANOG_18692474_ChIP-Seq_MEFs_Mouse1.10207008
116PRDM14_20953172_ChIP-Seq_ESCs_Human1.09697297
117DNAJC2_21179169_ChIP-ChIP_NT2_Human1.09575595
118NANOG_16518401_ChIP-PET_MESCs_Mouse1.09291324
119TBX3_20139965_ChIP-Seq_ESCs_Mouse1.07800000
120ER_23166858_ChIP-Seq_MCF-7_Human1.07471669
121CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.07469476
122TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07330979
123E2F4_17652178_ChIP-ChIP_JURKAT_Human1.07201514
124SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.06802445
125ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05960143
126WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04453444
127AHR_22903824_ChIP-Seq_MCF-7_Human1.03439035
128MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03374651
129MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02250606
130NANOG_18555785_Chip-Seq_ESCs_Mouse1.02107512
131TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01934331
132SOX2_18692474_ChIP-Seq_MEFs_Mouse1.01678921
133RUNX2_22187159_ChIP-Seq_PCA_Human1.01673859
134AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01535461
135YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01446479
136TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.00106158
137UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99582550
138STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99362322
139KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.99124268
140PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.98612950
141POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98110539
142TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98110539
143CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98096829
144ETS1_20019798_ChIP-Seq_JURKAT_Human0.97876802
145NANOG_21062744_ChIP-ChIP_HESCs_Human0.97356603
146SOX2_18555785_ChIP-Seq_MESCs_Mouse0.97147688
147PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97041849
148MYCN_18555785_ChIP-Seq_MESCs_Mouse0.96674596
149POU5F1_16518401_ChIP-PET_MESCs_Mouse0.96140594
150KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.94894750
151JUN_21703547_ChIP-Seq_K562_Human0.94709753
152RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94389324
153E2F1_18555785_Chip-Seq_ESCs_Mouse0.94075550
154SMAD3_21741376_ChIP-Seq_HESCs_Human0.93874883
155BCAT_22108803_ChIP-Seq_LS180_Human0.93526851
156NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.93306180
157CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93131185
158TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92345833
159SOX9_26525672_Chip-Seq_HEART_Mouse0.92325019
160SOX17_20123909_ChIP-Seq_XEN_Mouse0.91001914
161MYC_18940864_ChIP-ChIP_HL60_Human0.90872735
162* SMAD3_21741376_ChIP-Seq_ESCs_Human0.90855753
163SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.90432063
164RING1B_27294783_Chip-Seq_NPCs_Mouse0.89576894
165NANOG_18692474_ChIP-Seq_MESCs_Mouse0.89233067
166HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.88479140
167SALL4_18804426_ChIP-ChIP_XEN_Mouse0.88428150
168TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.87473295
169TP53_16413492_ChIP-PET_HCT116_Human0.87437759
170NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87400469
171ELK1_19687146_ChIP-ChIP_HELA_Human0.86451014
172ISL1_27105846_Chip-Seq_CPCs_Mouse0.82929101
173DCP1A_22483619_ChIP-Seq_HELA_Human0.82348399
174POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.81890257
175ZFX_18555785_ChIP-Seq_MESCs_Mouse0.81813164
176HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.81716020
177RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.81668186
178KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.80900730

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.52462806
2MP0003890_abnormal_embryonic-extraembry5.89405811
3MP0003880_abnormal_central_pattern5.63439642
4* MP0003635_abnormal_synaptic_transmissio4.23329762
5MP0003283_abnormal_digestive_organ4.13064127
6MP0004270_analgesia3.98030548
7MP0004133_heterotaxia3.66944220
8MP0009046_muscle_twitch3.51423720
9* MP0009745_abnormal_behavioral_response3.50443724
10MP0002064_seizures3.48403502
11MP0002063_abnormal_learning/memory/cond3.45540538
12* MP0001968_abnormal_touch/_nociception3.24772217
13MP0003119_abnormal_digestive_system3.14203762
14MP0010030_abnormal_orbit_morphology3.04646003
15MP0002254_reproductive_system_inflammat3.03385028
16MP0003136_yellow_coat_color3.00935235
17* MP0002572_abnormal_emotion/affect_behav2.97785776
18MP0006292_abnormal_olfactory_placode2.88298189
19MP0001486_abnormal_startle_reflex2.73128233
20MP0002272_abnormal_nervous_system2.70328262
21* MP0002734_abnormal_mechanical_nocicepti2.55676421
22MP0009780_abnormal_chondrocyte_physiolo2.39129574
23* MP0002736_abnormal_nociception_after2.38827300
24MP0001501_abnormal_sleep_pattern2.37450759
25MP0004264_abnormal_extraembryonic_tissu2.23092533
26MP0003879_abnormal_hair_cell2.21673031
27MP0005423_abnormal_somatic_nervous2.20998957
28* MP0001440_abnormal_grooming_behavior2.20758039
29MP0002735_abnormal_chemical_nociception2.20524054
30MP0003567_abnormal_fetal_cardiomyocyte2.09576016
31MP0005646_abnormal_pituitary_gland2.06590055
32* MP0002067_abnormal_sensory_capabilities2.05656768
33MP0002733_abnormal_thermal_nociception1.93133823
34MP0004147_increased_porphyrin_level1.88260974
35* MP0001970_abnormal_pain_threshold1.83189568
36MP0008569_lethality_at_weaning1.82260251
37MP0001293_anophthalmia1.78989964
38MP0002822_catalepsy1.78164347
39MP0005551_abnormal_eye_electrophysiolog1.76955538
40MP0001984_abnormal_olfaction1.71892809
41MP0002557_abnormal_social/conspecific_i1.69434703
42MP0004811_abnormal_neuron_physiology1.68496762
43MP0008877_abnormal_DNA_methylation1.67631420
44MP0003787_abnormal_imprinting1.64744367
45MP0008995_early_reproductive_senescence1.63309623
46MP0000778_abnormal_nervous_system1.59887484
47* MP0004924_abnormal_behavior1.55161510
48* MP0005386_behavior/neurological_phenoty1.55161510
49MP0000647_abnormal_sebaceous_gland1.55143510
50MP0002837_dystrophic_cardiac_calcinosis1.53494810
51MP0002184_abnormal_innervation1.53483356
52MP0002233_abnormal_nose_morphology1.52972127
53MP0003329_amyloid_beta_deposits1.52779204
54MP0003937_abnormal_limbs/digits/tail_de1.52617860
55MP0003123_paternal_imprinting1.51538103
56MP0002084_abnormal_developmental_patter1.44423005
57MP0004858_abnormal_nervous_system1.43402246
58MP0000639_abnormal_adrenal_gland1.43044029
59MP0002882_abnormal_neuron_morphology1.41958026
60MP0009672_abnormal_birth_weight1.41951116
61MP0004957_abnormal_blastocyst_morpholog1.40685859
62* MP0002066_abnormal_motor_capabilities/c1.40307932
63MP0000462_abnormal_digestive_system1.40201743
64MP0003122_maternal_imprinting1.39546433
65MP0008789_abnormal_olfactory_epithelium1.37246721
66MP0003633_abnormal_nervous_system1.37188646
67MP0001502_abnormal_circadian_rhythm1.33852291
68MP0006276_abnormal_autonomic_nervous1.32327197
69MP0001905_abnormal_dopamine_level1.32239233
70MP0001672_abnormal_embryogenesis/_devel1.31585354
71MP0005380_embryogenesis_phenotype1.31585354
72MP0002876_abnormal_thyroid_physiology1.29364167
73MP0003385_abnormal_body_wall1.28799770
74MP0008932_abnormal_embryonic_tissue1.28583996
75MP0000955_abnormal_spinal_cord1.27742996
76MP0002938_white_spotting1.26139916
77MP0003941_abnormal_skin_development1.25212676
78MP0002909_abnormal_adrenal_gland1.25023229
79MP0004142_abnormal_muscle_tone1.22825453
80MP0000751_myopathy1.20301558
81MP0000372_irregular_coat_pigmentation1.19675869
82MP0001286_abnormal_eye_development1.19564633
83MP0005367_renal/urinary_system_phenotyp1.19067086
84MP0000516_abnormal_urinary_system1.19067086
85MP0002277_abnormal_respiratory_mucosa1.18562258
86MP0004272_abnormal_basement_membrane1.17725420
87MP0003121_genomic_imprinting1.16391900
88MP0009840_abnormal_foam_cell1.16137613
89MP0003693_abnormal_embryo_hatching1.15946601
90MP0003137_abnormal_impulse_conducting1.14726098
91MP0002697_abnormal_eye_size1.14611701
92MP0005084_abnormal_gallbladder_morpholo1.14302484
93MP0001529_abnormal_vocalization1.13304997
94MP0003631_nervous_system_phenotype1.12325626
95MP0008874_decreased_physiological_sensi1.10172371
96MP0004885_abnormal_endolymph1.09009477
97MP0002085_abnormal_embryonic_tissue1.08756774
98MP0002229_neurodegeneration1.07523763
99MP0001730_embryonic_growth_arrest1.05310455
100MP0003984_embryonic_growth_retardation1.03882940
101MP0002088_abnormal_embryonic_growth/wei1.03746619
102MP0000428_abnormal_craniofacial_morphol1.02983529
103MP0004742_abnormal_vestibular_system1.02704489
104MP0001697_abnormal_embryo_size1.02154574
105MP0002152_abnormal_brain_morphology1.01478628
106MP0002090_abnormal_vision1.01324165
107MP0001963_abnormal_hearing_physiology1.01193646
108MP0002653_abnormal_ependyma_morphology0.98508686
109MP0005623_abnormal_meninges_morphology0.93454958
110MP0003936_abnormal_reproductive_system0.93318956
111MP0003878_abnormal_ear_physiology0.93006540
112MP0005377_hearing/vestibular/ear_phenot0.93006540
113* MP0002069_abnormal_eating/drinking_beha0.91758527
114MP0003861_abnormal_nervous_system0.91456503
115MP0004145_abnormal_muscle_electrophysio0.89780236
116* MP0008004_abnormal_stomach_pH0.89772301
117* MP0008872_abnormal_physiological_respon0.89420832
118MP0002127_abnormal_cardiovascular_syste0.88985779
119MP0001188_hyperpigmentation0.88779595
120MP0008058_abnormal_DNA_repair0.88209723
121MP0002111_abnormal_tail_morphology0.87871641
122MP0002102_abnormal_ear_morphology0.87580127
123MP0003183_abnormal_peptide_metabolism0.87445931
124MP0004085_abnormal_heartbeat0.86384634
125MP0000013_abnormal_adipose_tissue0.84936062
126MP0009703_decreased_birth_body0.84056279
127MP0003186_abnormal_redox_activity0.83469878
128MP0010094_abnormal_chromosome_stability0.82887836
129MP0004484_altered_response_of0.81062615
130MP0002163_abnormal_gland_morphology0.80546090
131MP0001177_atelectasis0.80029796
132MP0005645_abnormal_hypothalamus_physiol0.79343644
133MP0005253_abnormal_eye_physiology0.79340977
134MP0002752_abnormal_somatic_nervous0.78814908
135MP0003938_abnormal_ear_development0.77799248
136MP0003075_altered_response_to0.77780593
137MP0010386_abnormal_urinary_bladder0.77389073
138MP0002086_abnormal_extraembryonic_tissu0.77262435
139MP0003011_delayed_dark_adaptation0.76069779
140MP0004215_abnormal_myocardial_fiber0.75660908
141* MP0005535_abnormal_body_temperature0.74720272
142MP0010329_abnormal_lipoprotein_level0.72946399
143MP0001485_abnormal_pinna_reflex0.71719544
144MP0003690_abnormal_glial_cell0.71369078
145MP0004019_abnormal_vitamin_homeostasis0.70590540
146MP0005394_taste/olfaction_phenotype0.70418886
147MP0005499_abnormal_olfactory_system0.70418886
148MP0000631_abnormal_neuroendocrine_gland0.69454497
149MP0003718_maternal_effect0.69150257
150MP0006035_abnormal_mitochondrial_morpho0.68743945
151MP0002080_prenatal_lethality0.68200817
152MP0004043_abnormal_pH_regulation0.66635464
153MP0003632_abnormal_nervous_system0.65998560
154MP0001881_abnormal_mammary_gland0.65495576
155MP0000604_amyloidosis0.64619387
156MP0001145_abnormal_male_reproductive0.64534118
157MP0006072_abnormal_retinal_apoptosis0.64428102
158MP0002210_abnormal_sex_determination0.64251468
159MP0000653_abnormal_sex_gland0.63865490
160MP0003191_abnormal_cellular_cholesterol0.63191909
161MP0000920_abnormal_myelination0.62912312
162MP0003634_abnormal_glial_cell0.62713157
163* MP0001664_abnormal_digestion0.61179134
164MP0001943_abnormal_respiration0.59689379
165MP0004510_myositis0.58502179
166MP0004233_abnormal_muscle_weight0.56552597
167MP0005171_absent_coat_pigmentation0.53481622
168MP0010769_abnormal_survival0.53283800
169MP0010770_preweaning_lethality0.53109337
170MP0002082_postnatal_lethality0.53109337
171MP0000026_abnormal_inner_ear0.53017084
172MP0010768_mortality/aging0.50382339
173* MP0003956_abnormal_body_size0.50114725
174MP0004130_abnormal_muscle_cell0.49355561

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.69528012
2Epileptic encephalopathy (HP:0200134)6.36179560
3Myokymia (HP:0002411)6.10335252
4Focal seizures (HP:0007359)5.87985738
5Atonic seizures (HP:0010819)5.72122987
6Congenital malformation of the right heart (HP:0011723)5.33293399
7Double outlet right ventricle (HP:0001719)5.33293399
8Visual hallucinations (HP:0002367)5.16544052
9Febrile seizures (HP:0002373)4.96859096
10Hyperventilation (HP:0002883)4.63080894
11Oligodactyly (hands) (HP:0001180)4.60050179
12Absence seizures (HP:0002121)4.41876199
13Abnormal pancreas size (HP:0012094)4.27483473
14Septo-optic dysplasia (HP:0100842)4.21624535
15Dialeptic seizures (HP:0011146)4.13543096
16Broad-based gait (HP:0002136)4.12051251
17Generalized tonic-clonic seizures (HP:0002069)4.09897352
18Stenosis of the external auditory canal (HP:0000402)3.95960691
19Progressive cerebellar ataxia (HP:0002073)3.84522344
20Gaze-evoked nystagmus (HP:0000640)3.73074095
21Amblyopia (HP:0000646)3.59469174
22Anophthalmia (HP:0000528)3.58274212
23Intestinal atresia (HP:0011100)3.56958640
24Abnormality of the fetal cardiovascular system (HP:0010948)3.49470112
25Abnormal umbilical cord blood vessels (HP:0011403)3.49470112
26Single umbilical artery (HP:0001195)3.49470112
27Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.46078130
28Poor eye contact (HP:0000817)3.44517064
29Labial hypoplasia (HP:0000066)3.35981200
30Impaired vibration sensation in the lower limbs (HP:0002166)3.35487156
31Abdominal situs inversus (HP:0003363)3.31424410
32Abnormality of abdominal situs (HP:0011620)3.31424410
33Abnormal ventriculo-arterial connection (HP:0011563)3.25477721
34Transposition of the great arteries (HP:0001669)3.25477721
35Abnormal connection of the cardiac segments (HP:0011545)3.25477721
36Oligodactyly (HP:0012165)3.20618211
37Hypoplastic female external genitalia (HP:0012815)3.12920501
38Dysdiadochokinesis (HP:0002075)3.09417729
39Gonadal dysgenesis (HP:0000133)3.07220217
40Bifid tongue (HP:0010297)3.05799417
41Abnormal eating behavior (HP:0100738)3.01696723
42Hypoalphalipoproteinemia (HP:0003233)3.00597668
43Anal stenosis (HP:0002025)2.98553318
44Amelogenesis imperfecta (HP:0000705)2.97577416
45Urinary bladder sphincter dysfunction (HP:0002839)2.94721720
46Impaired social interactions (HP:0000735)2.91746675
47Abnormal social behavior (HP:0012433)2.91746675
48Truncal ataxia (HP:0002078)2.83357768
49Horseshoe kidney (HP:0000085)2.83337258
50Mixed hearing impairment (HP:0000410)2.81996730
51Impaired smooth pursuit (HP:0007772)2.81627636
52Depression (HP:0000716)2.81223487
53Action tremor (HP:0002345)2.79900948
54Epileptiform EEG discharges (HP:0011182)2.77653261
55Dysmetric saccades (HP:0000641)2.77448187
56Myelomeningocele (HP:0002475)2.77333099
57Dysmetria (HP:0001310)2.76838366
58Absent radius (HP:0003974)2.73938406
59Dynein arm defect of respiratory motile cilia (HP:0012255)2.72841019
60Absent/shortened dynein arms (HP:0200106)2.72841019
61Ankle clonus (HP:0011448)2.71737128
62Gait imbalance (HP:0002141)2.69763108
63Aplasia/Hypoplasia of the sacrum (HP:0008517)2.66788807
64Abnormality of the parathyroid morphology (HP:0011766)2.66630629
65Aplasia/hypoplasia of the humerus (HP:0006507)2.60979777
66Anxiety (HP:0000739)2.60065483
67Inability to walk (HP:0002540)2.59882613
68Drooling (HP:0002307)2.58968105
69Excessive salivation (HP:0003781)2.58968105
70Absent forearm bone (HP:0003953)2.57257561
71Aplasia involving forearm bones (HP:0009822)2.57257561
72Medial flaring of the eyebrow (HP:0010747)2.51025621
73Congenital primary aphakia (HP:0007707)2.50948501
74Abnormal respiratory motile cilium physiology (HP:0012261)2.50623546
75Short humerus (HP:0005792)2.49857689
76Dyschromatopsia (HP:0007641)2.47938977
77Patent foramen ovale (HP:0001655)2.46352011
78Impaired vibratory sensation (HP:0002495)2.45624801
79Absent eyebrow (HP:0002223)2.45483844
80EEG with generalized epileptiform discharges (HP:0011198)2.42993365
81Esophageal atresia (HP:0002032)2.42747099
82Postural instability (HP:0002172)2.42569886
83Aqueductal stenosis (HP:0002410)2.42017803
84Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.41820493
85Preauricular pit (HP:0004467)2.40075884
86Periauricular skin pits (HP:0100277)2.40075884
87Abnormality of the lower motor neuron (HP:0002366)2.38965204
88Absent speech (HP:0001344)2.38882738
89Absent septum pellucidum (HP:0001331)2.36653241
90Gonadotropin excess (HP:0000837)2.36396082
91Short middle phalanx of the 5th finger (HP:0004220)2.36036728
92Abnormality of ocular smooth pursuit (HP:0000617)2.34578560
93Polyphagia (HP:0002591)2.34192652
94Termporal pattern (HP:0011008)2.34022233
95Insidious onset (HP:0003587)2.34022233
96Protruding tongue (HP:0010808)2.31540294
97Abnormality of the labia (HP:0000058)2.30857122
98Pheochromocytoma (HP:0002666)2.30241662
99Scanning speech (HP:0002168)2.29955872
100Cupped ear (HP:0000378)2.29772256
101Preaxial foot polydactyly (HP:0001841)2.29586034
102Abnormality of the umbilical cord (HP:0010881)2.29458625
103Ureteral duplication (HP:0000073)2.27870033
104Status epilepticus (HP:0002133)2.27673165
105Urinary urgency (HP:0000012)2.27622115
106Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.27226048
107Hypsarrhythmia (HP:0002521)2.26134233
108Nephrogenic diabetes insipidus (HP:0009806)2.25389038
109Ectopic anus (HP:0004397)2.24701204
110Diplopia (HP:0000651)2.24605369
111Abnormality of binocular vision (HP:0011514)2.24605369
112Rhinitis (HP:0012384)2.24232171
113Anteriorly placed anus (HP:0001545)2.23420429
114Maternal diabetes (HP:0009800)2.22588388
115Abnormality of alanine metabolism (HP:0010916)2.22270032
116Hyperalaninemia (HP:0003348)2.22270032
117Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.22270032
118Diastasis recti (HP:0001540)2.22260800
119Blue irides (HP:0000635)2.21478013
120Abnormal hair whorl (HP:0010721)2.21288151
121Spastic gait (HP:0002064)2.20913694
122Split foot (HP:0001839)2.20144753
123Abnormality of the septum pellucidum (HP:0007375)2.20025429
124Progressive inability to walk (HP:0002505)2.19856589
125Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.19793612
126Bradykinesia (HP:0002067)2.19164273
127Genetic anticipation (HP:0003743)2.19040644
128Specific learning disability (HP:0001328)2.19020792
129Abnormality of macular pigmentation (HP:0008002)2.18857997
130Supranuclear gaze palsy (HP:0000605)2.18625026
131Stereotypic behavior (HP:0000733)2.18258088
132Abnormality of the aortic arch (HP:0012303)2.17903595
133Generalized myoclonic seizures (HP:0002123)2.17794611
134Torticollis (HP:0000473)2.16721597
135Abnormal ciliary motility (HP:0012262)2.16440579
136Focal dystonia (HP:0004373)2.16001865
137Delusions (HP:0000746)2.14756487
138Hyperthyroidism (HP:0000836)2.14602411
139Fetal akinesia sequence (HP:0001989)2.14523954
140Hepatoblastoma (HP:0002884)2.13954212
141Breast aplasia (HP:0100783)2.13423959
142Neuroendocrine neoplasm (HP:0100634)2.12060885
143Central scotoma (HP:0000603)2.11137963
144Hemivertebrae (HP:0002937)2.08577050
145Hypoplastic pelvis (HP:0008839)2.07368802
146Rectovaginal fistula (HP:0000143)2.07318158
147Rectal fistula (HP:0100590)2.07318158
148Papilledema (HP:0001085)2.06779308
149Chin dimple (HP:0010751)2.06289712
150Optic nerve hypoplasia (HP:0000609)2.03560896
151Hemiparesis (HP:0001269)2.03388942
152Abnormality of the labia minora (HP:0012880)2.02369690
153Incomplete penetrance (HP:0003829)2.02172197
154Resting tremor (HP:0002322)2.02094773
155Cholecystitis (HP:0001082)2.01365512
156Abnormal gallbladder physiology (HP:0012438)2.01365512
157Partial agenesis of the corpus callosum (HP:0001338)2.00642540
158Bilateral microphthalmos (HP:0007633)1.99057721
159Intention tremor (HP:0002080)1.98416547
160Fused cervical vertebrae (HP:0002949)1.98078293
161Sensory axonal neuropathy (HP:0003390)1.97708527
162Hyperglycinemia (HP:0002154)1.95497971
163Dysphonia (HP:0001618)1.93928574
164Gait ataxia (HP:0002066)1.93889726
165Lower limb muscle weakness (HP:0007340)1.93767032
166Abnormality of the phalanges of the 5th finger (HP:0004213)1.91935537
167Hypolipoproteinemia (HP:0010981)1.90735320
168Respiratory difficulties (HP:0002880)1.90596585
169Hypoventilation (HP:0002791)1.90294645
170Acute encephalopathy (HP:0006846)1.89177763
171Lower limb amyotrophy (HP:0007210)1.89124555
172Hemiplegia (HP:0002301)1.88461812
173Vaginal fistula (HP:0004320)1.87833382
174Carpal bone hypoplasia (HP:0001498)1.87172672
175Craniofacial dystonia (HP:0012179)1.85302874
176Abnormality of the corticospinal tract (HP:0002492)1.83587727
177Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.82931897
178Chorioretinal coloboma (HP:0000567)1.82258421
179Congenital stationary night blindness (HP:0007642)1.82211343
180Abnormality of the dental pulp (HP:0006479)1.82030491
181Poor coordination (HP:0002370)1.81241019
182Abnormality of the clitoris (HP:0000056)1.80936087
183Abnormality of dental color (HP:0011073)1.80434236
184Short hallux (HP:0010109)1.80281797
185Chronic bronchitis (HP:0004469)1.78983745
186Hypoplasia of the ulna (HP:0003022)1.78956988
187Mutism (HP:0002300)1.78719950
188Abnormal respiratory epithelium morphology (HP:0012253)1.78437152
189Abnormal lung lobation (HP:0002101)1.77350911
190Renal hypoplasia (HP:0000089)1.77221331
191Aplasia/Hypoplasia of the breasts (HP:0010311)1.75532762
192Growth hormone deficiency (HP:0000824)1.72605381
193Hyperglycinuria (HP:0003108)1.71173633
194Anosmia (HP:0000458)1.69088052
195Brittle hair (HP:0002299)1.66133019
196Aplasia/Hypoplasia of the hallux (HP:0008362)1.66019785
197Retinal atrophy (HP:0001105)1.65331006
198Anal atresia (HP:0002023)1.65326585

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK25.13320180
2ERBB44.64117617
3PBK4.34888989
4EPHA44.11908682
5CASK4.07292454
6NTRK33.87003790
7DAPK23.74255218
8MAP3K43.59093612
9MAP3K93.35155703
10MAP2K73.34744036
11CDK193.20301913
12TRIM283.17082108
13MAP3K123.13771383
14MST42.84597197
15DAPK12.50991943
16MAP2K42.34980024
17ACVR1B2.22449109
18STK162.22216045
19PLK22.19340162
20RIPK42.12330583
21CCNB12.11550005
22MINK12.06131248
23PAK61.95123045
24PNCK1.94215709
25WNK31.77785909
26OXSR11.76589327
27BMPR1B1.75774729
28MKNK21.67270041
29PRPF4B1.59608736
30PLK41.58672891
31AKT31.56512094
32MARK11.55392804
33KSR21.47126673
34GRK51.45851759
35CDK51.41536782
36NTRK21.37054699
37CAMKK11.36685680
38PRKD31.35469443
39PLK31.34798138
40TNIK1.31612283
41KSR11.26447652
42PRKCG1.23113296
43ARAF1.21394831
44WEE11.21224236
45MKNK11.16490646
46PTK2B1.15218016
47MAPK131.12611885
48EPHA21.08605324
49NTRK11.07560468
50LATS11.04726373
51BCKDK1.03774952
52STK38L1.02997149
53BMPR20.99878641
54SIK20.99124348
55SRPK10.98528609
56NUAK10.96901659
57CAMK2A0.96440886
58SGK2230.90822414
59SGK4940.90822414
60UHMK10.90370309
61TTK0.90345566
62FES0.90240936
63DAPK30.89796066
64CDK180.88991803
65CDK150.84818097
66STK380.84685978
67EIF2AK30.84132036
68MAP3K130.84072168
69SGK20.82961302
70NME10.80418040
71CAMKK20.79279271
72CDK140.77364806
73CAMK10.76125633
74STK110.75929695
75PLK10.75712282
76TYRO30.75630932
77VRK20.73790523
78CDK11A0.72735310
79SIK30.71083443
80CDC70.71023888
81ZAK0.70464566
82BRSK10.70430798
83STK30.70167630
84FGFR10.69947561
85TESK20.69383733
86BRAF0.66664766
87BUB10.66176827
88CAMK2B0.66027931
89MAP3K20.65766902
90PDK10.65319719
91RAF10.64812348
92TSSK60.64223729
93BRSK20.63418192
94FGR0.62565136
95MATK0.61907002
96SGK10.60778819
97PDPK10.60449573
98PRKCH0.58112009
99TAOK10.58070906
100SGK30.55961335
101ADRBK10.54379636
102DYRK20.53795471
103PDK40.53777615
104PDK30.53777615
105MAPK70.53671446
106NEK10.53360580
107RET0.52418546
108ALK0.50047082
109PRKCE0.48804230
110CSNK1G10.48423220
111DYRK1A0.48269763
112MAPK120.48058241
113PRKCI0.46530472
114CDK30.46145814
115PAK30.45901847
116TGFBR10.43980792
117LATS20.43730100
118NEK20.43438616
119MAP3K60.43233398
120EIF2AK10.42220664
121MAP3K10.40839469
122NLK0.38728605
123CAMK40.38727128
124STK390.37895251
125PHKG20.36844107
126PHKG10.36844107
127RPS6KA30.36353069
128SCYL20.35844648
129FGFR20.35725201
130FLT30.35095745
131PINK10.34121556
132NEK60.33822708
133MAP2K10.33774284
134CAMK2D0.33490254
135TNK20.33389376
136MARK20.33285344
137CSNK1G20.33253525
138DMPK0.32438564
139PAK10.31667839
140BCR0.31337495
141ERBB30.30681667
142ROCK20.30462399
143CSNK1A10.29913123
144TIE10.29607940
145MYLK0.28769667
146MAP3K80.28611635
147STK100.28441634
148FYN0.28002393
149CAMK2G0.27945604
150CHEK20.27172554
151CAMK1G0.26901107
152PRKCB0.26628922
153PAK40.25514654
154GRK10.24878877

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047214.21032830
2Nicotine addiction_Homo sapiens_hsa050333.78139964
3Steroid biosynthesis_Homo sapiens_hsa001003.07008655
4Olfactory transduction_Homo sapiens_hsa047403.02918529
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.74647200
6Circadian entrainment_Homo sapiens_hsa047132.67223521
7Collecting duct acid secretion_Homo sapiens_hsa049662.66545930
8Amphetamine addiction_Homo sapiens_hsa050312.58701780
9Long-term potentiation_Homo sapiens_hsa047202.57294239
10Proteasome_Homo sapiens_hsa030502.55701602
11Morphine addiction_Homo sapiens_hsa050322.50586241
12Glutamatergic synapse_Homo sapiens_hsa047242.50297042
13Phototransduction_Homo sapiens_hsa047442.48452173
14GABAergic synapse_Homo sapiens_hsa047272.45780289
15Vitamin digestion and absorption_Homo sapiens_hsa049772.31907816
16Pyruvate metabolism_Homo sapiens_hsa006202.31386575
17Salivary secretion_Homo sapiens_hsa049702.14273025
18Dopaminergic synapse_Homo sapiens_hsa047282.09072869
19Insulin secretion_Homo sapiens_hsa049112.08340247
20Propanoate metabolism_Homo sapiens_hsa006402.02742753
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.87673892
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.82262188
23Renin secretion_Homo sapiens_hsa049241.80583723
24Protein export_Homo sapiens_hsa030601.76383207
25* Gastric acid secretion_Homo sapiens_hsa049711.74693318
26Cysteine and methionine metabolism_Homo sapiens_hsa002701.73714471
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.68031938
28Oxytocin signaling pathway_Homo sapiens_hsa049211.67243959
29Cholinergic synapse_Homo sapiens_hsa047251.66009455
30Taste transduction_Homo sapiens_hsa047421.65808988
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.65424272
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.64690268
33Vibrio cholerae infection_Homo sapiens_hsa051101.63006962
34Fatty acid elongation_Homo sapiens_hsa000621.60163059
35Fat digestion and absorption_Homo sapiens_hsa049751.59995804
36Long-term depression_Homo sapiens_hsa047301.57318804
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.55506777
38Serotonergic synapse_Homo sapiens_hsa047261.54095022
39Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53856938
40TGF-beta signaling pathway_Homo sapiens_hsa043501.48887049
41* Calcium signaling pathway_Homo sapiens_hsa040201.48798934
42Mismatch repair_Homo sapiens_hsa034301.41833925
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.40874343
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.40796558
45Cocaine addiction_Homo sapiens_hsa050301.39759637
46Basal transcription factors_Homo sapiens_hsa030221.38300506
47Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.37217365
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36324479
49Selenocompound metabolism_Homo sapiens_hsa004501.34790951
50Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.34260492
51RNA degradation_Homo sapiens_hsa030181.30139145
52GnRH signaling pathway_Homo sapiens_hsa049121.30065210
53Hippo signaling pathway_Homo sapiens_hsa043901.27899675
54Non-homologous end-joining_Homo sapiens_hsa034501.27601932
55Basal cell carcinoma_Homo sapiens_hsa052171.27288049
56Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.26781575
57Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.26358625
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.26148270
59RNA transport_Homo sapiens_hsa030131.24943287
60Fatty acid metabolism_Homo sapiens_hsa012121.24034957
61cAMP signaling pathway_Homo sapiens_hsa040241.22109624
62Biosynthesis of amino acids_Homo sapiens_hsa012301.19042539
63Carbon metabolism_Homo sapiens_hsa012001.15155967
64Gap junction_Homo sapiens_hsa045401.14122435
65RNA polymerase_Homo sapiens_hsa030201.13441176
66Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.13185235
67Butanoate metabolism_Homo sapiens_hsa006501.09384343
68Ribosome_Homo sapiens_hsa030101.07752702
69Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07554958
70Glutathione metabolism_Homo sapiens_hsa004801.06911986
71Type II diabetes mellitus_Homo sapiens_hsa049301.06739604
72Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.04780706
73Vitamin B6 metabolism_Homo sapiens_hsa007501.04648919
74Cardiac muscle contraction_Homo sapiens_hsa042601.04603437
75* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04586926
76Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.04384305
77Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03897377
78Glioma_Homo sapiens_hsa052141.02874897
79Estrogen signaling pathway_Homo sapiens_hsa049151.01136014
80ErbB signaling pathway_Homo sapiens_hsa040121.01040576
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99883279
82Homologous recombination_Homo sapiens_hsa034400.99320418
83Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.97758972
84Oxidative phosphorylation_Homo sapiens_hsa001900.96493568
85Arginine and proline metabolism_Homo sapiens_hsa003300.95917635
86beta-Alanine metabolism_Homo sapiens_hsa004100.91785058
87mRNA surveillance pathway_Homo sapiens_hsa030150.91332169
88Tight junction_Homo sapiens_hsa045300.90631411
89Axon guidance_Homo sapiens_hsa043600.89095707
90Vascular smooth muscle contraction_Homo sapiens_hsa042700.88594209
91Melanogenesis_Homo sapiens_hsa049160.88216755
92Hedgehog signaling pathway_Homo sapiens_hsa043400.86731221
93Primary bile acid biosynthesis_Homo sapiens_hsa001200.82687832
94DNA replication_Homo sapiens_hsa030300.80189840
95Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75521163
96Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74378982
97Peroxisome_Homo sapiens_hsa041460.73891829
98Base excision repair_Homo sapiens_hsa034100.73324432
99Fanconi anemia pathway_Homo sapiens_hsa034600.70186805
100Alzheimers disease_Homo sapiens_hsa050100.70072265
101Fatty acid degradation_Homo sapiens_hsa000710.68865345
102MAPK signaling pathway_Homo sapiens_hsa040100.68815072
103Metabolic pathways_Homo sapiens_hsa011000.68533693
104Rheumatoid arthritis_Homo sapiens_hsa053230.68444843
105Oocyte meiosis_Homo sapiens_hsa041140.67891573
106Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67759062
107Galactose metabolism_Homo sapiens_hsa000520.66868271
108Folate biosynthesis_Homo sapiens_hsa007900.66636165
109Pancreatic secretion_Homo sapiens_hsa049720.65138526
110Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.64692111
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.64492802
112Dilated cardiomyopathy_Homo sapiens_hsa054140.62653573
113alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62258530
114SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61010127
115Spliceosome_Homo sapiens_hsa030400.61003194
116Dorso-ventral axis formation_Homo sapiens_hsa043200.60248165
117Ovarian steroidogenesis_Homo sapiens_hsa049130.58295416
118Glucagon signaling pathway_Homo sapiens_hsa049220.57790623
119Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56955226
120Purine metabolism_Homo sapiens_hsa002300.56866379
121Ras signaling pathway_Homo sapiens_hsa040140.56390180
122Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.56028428
123Thyroid hormone synthesis_Homo sapiens_hsa049180.56022016
124Nitrogen metabolism_Homo sapiens_hsa009100.55976771
125Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55718028
126Cell cycle_Homo sapiens_hsa041100.54814127
127Circadian rhythm_Homo sapiens_hsa047100.54729457
128Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53174167
129Pyrimidine metabolism_Homo sapiens_hsa002400.51782151
130Sulfur metabolism_Homo sapiens_hsa009200.51654052
131Steroid hormone biosynthesis_Homo sapiens_hsa001400.51198124
132Central carbon metabolism in cancer_Homo sapiens_hsa052300.51088690
133Phospholipase D signaling pathway_Homo sapiens_hsa040720.48501243
134Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48239174
135Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.46772276
136Sulfur relay system_Homo sapiens_hsa041220.46389043
137Neurotrophin signaling pathway_Homo sapiens_hsa047220.46339012
138Inositol phosphate metabolism_Homo sapiens_hsa005620.46302430
139Choline metabolism in cancer_Homo sapiens_hsa052310.46291028
140Parkinsons disease_Homo sapiens_hsa050120.44748640
141Phagosome_Homo sapiens_hsa041450.44675969
142p53 signaling pathway_Homo sapiens_hsa041150.44353983
143Maturity onset diabetes of the young_Homo sapiens_hsa049500.43819420
144Nucleotide excision repair_Homo sapiens_hsa034200.43032136
145Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42557373
146N-Glycan biosynthesis_Homo sapiens_hsa005100.41965002
147VEGF signaling pathway_Homo sapiens_hsa043700.41199055
148Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40802100
149Rap1 signaling pathway_Homo sapiens_hsa040150.38776208
150Huntingtons disease_Homo sapiens_hsa050160.38523616
151Sphingolipid signaling pathway_Homo sapiens_hsa040710.37109750
152Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36789792
153Type I diabetes mellitus_Homo sapiens_hsa049400.35751415
154Prion diseases_Homo sapiens_hsa050200.34099264
155Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34035288
156Alcoholism_Homo sapiens_hsa050340.34011798
157African trypanosomiasis_Homo sapiens_hsa051430.33653252
158Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.33435855
159Wnt signaling pathway_Homo sapiens_hsa043100.33272789
160Insulin signaling pathway_Homo sapiens_hsa049100.32924538
1612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.32423652
162Endocytosis_Homo sapiens_hsa041440.29211073
163Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27833927
164Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27198724
165Renal cell carcinoma_Homo sapiens_hsa052110.27155277
166Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26567682
167Bile secretion_Homo sapiens_hsa049760.24798816
168Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24509589
169mTOR signaling pathway_Homo sapiens_hsa041500.23184128
170Arginine biosynthesis_Homo sapiens_hsa002200.21687218

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