PCDHGA12

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 is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)5.76681427
2extracellular matrix assembly (GO:0085029)4.97620979
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.84882208
4collagen fibril organization (GO:0030199)4.84108296
5regulation of short-term neuronal synaptic plasticity (GO:0048172)4.80045376
6synaptic vesicle docking involved in exocytosis (GO:0016081)4.72283766
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.65206450
8neurotransmitter-gated ion channel clustering (GO:0072578)4.64004937
9cell migration involved in heart development (GO:0060973)4.60971981
10locomotory exploration behavior (GO:0035641)4.58455448
11type B pancreatic cell proliferation (GO:0044342)4.55728115
12sequestering of extracellular ligand from receptor (GO:0035581)4.54456975
13dermatan sulfate biosynthetic process (GO:0030208)4.53045238
14vocalization behavior (GO:0071625)4.52042195
15endodermal cell differentiation (GO:0035987)4.50733862
16dermatan sulfate metabolic process (GO:0030205)4.37881213
17skin morphogenesis (GO:0043589)4.36130771
18regulation of glutamate receptor signaling pathway (GO:1900449)4.28174120
19ionotropic glutamate receptor signaling pathway (GO:0035235)4.25282533
20blood vessel maturation (GO:0001955)4.18734661
21chondrocyte proliferation (GO:0035988)4.15636539
22postsynaptic membrane organization (GO:0001941)4.12793059
23adhesion of symbiont to host cell (GO:0044650)4.10030248
24virion attachment to host cell (GO:0019062)4.10030248
25regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.06982664
26synaptic transmission, glutamatergic (GO:0035249)4.04823872
27neuron cell-cell adhesion (GO:0007158)4.02257963
28synaptic vesicle maturation (GO:0016188)3.99518452
29bone trabecula formation (GO:0060346)3.93161725
30presynaptic membrane assembly (GO:0097105)3.92880393
31hemidesmosome assembly (GO:0031581)3.89390848
32extracellular fibril organization (GO:0043206)3.89239466
33glutamate receptor signaling pathway (GO:0007215)3.85430217
34kidney mesenchyme development (GO:0072074)3.78243811
35regulation of synaptic vesicle exocytosis (GO:2000300)3.76200285
36cell communication by electrical coupling (GO:0010644)3.60715975
37regulation of synapse maturation (GO:0090128)3.59633209
38presynaptic membrane organization (GO:0097090)3.58798891
39G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.58291597
40protein localization to synapse (GO:0035418)3.55843065
41adhesion of symbiont to host (GO:0044406)3.55465932
42chondroitin sulfate catabolic process (GO:0030207)3.55377949
43synaptic vesicle exocytosis (GO:0016079)3.53663369
44regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.52990666
45regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.52988217
46membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.51978244
47negative regulation of synaptic transmission, GABAergic (GO:0032229)3.51695586
48cell-substrate junction assembly (GO:0007044)3.48654886
49collagen metabolic process (GO:0032963)3.48240261
50neuron-neuron synaptic transmission (GO:0007270)3.46852004
51exploration behavior (GO:0035640)3.43661588
52regulation of synaptic vesicle transport (GO:1902803)3.43433791
53metanephric mesenchyme development (GO:0072075)3.42346115
54synaptic vesicle endocytosis (GO:0048488)3.41322981
55fibril organization (GO:0097435)3.39888868
56atrial cardiac muscle cell action potential (GO:0086014)3.39367144
57startle response (GO:0001964)3.38883255
58glutamate secretion (GO:0014047)3.38256176
59positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.38071395
60regulation of synapse structural plasticity (GO:0051823)3.34970903
61collagen catabolic process (GO:0030574)3.31769378
62negative regulation of smooth muscle cell migration (GO:0014912)3.31678429
63response to pheromone (GO:0019236)3.31115829
64regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.30989172
65barbed-end actin filament capping (GO:0051016)3.30810706
66cell adhesion mediated by integrin (GO:0033627)3.29225589
67peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.27929947
68mesenchymal-epithelial cell signaling (GO:0060638)3.26696529
69long-term memory (GO:0007616)3.22183224
70chondroitin sulfate biosynthetic process (GO:0030206)3.22053441
71positive regulation of fibroblast migration (GO:0010763)3.22000820
72multicellular organismal macromolecule metabolic process (GO:0044259)3.20999705
73regulation of neuronal synaptic plasticity (GO:0048168)3.20980010
74venous blood vessel morphogenesis (GO:0048845)3.20261085
75central nervous system projection neuron axonogenesis (GO:0021952)3.19865530
76cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.19367061
77vascular endothelial growth factor signaling pathway (GO:0038084)3.18825159
78extracellular matrix disassembly (GO:0022617)3.17989166
79glomerular basement membrane development (GO:0032836)3.16034724
80regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.15971774
81cellular potassium ion homeostasis (GO:0030007)3.12771330
82positive regulation of synapse maturation (GO:0090129)3.12214970
83L-amino acid import (GO:0043092)3.12083360
84cerebellar granule cell differentiation (GO:0021707)3.12062227
85regulation of excitatory postsynaptic membrane potential (GO:0060079)3.10960331
86positive regulation of osteoblast proliferation (GO:0033690)3.06842532
87dendrite morphogenesis (GO:0048813)3.06083275
88basement membrane organization (GO:0071711)3.05131833
89regulation of long-term neuronal synaptic plasticity (GO:0048169)3.02091573
90regulation of neurotransmitter secretion (GO:0046928)3.01973079
91multicellular organismal metabolic process (GO:0044236)3.00509752
92negative regulation of chondrocyte differentiation (GO:0032331)2.99400688
93multicellular organismal catabolic process (GO:0044243)2.99074200
94heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.98934328
95response to auditory stimulus (GO:0010996)2.98325759
96positive regulation of neurotransmitter secretion (GO:0001956)2.98255782
97regulation of postsynaptic membrane potential (GO:0060078)2.97335838
98gamma-aminobutyric acid transport (GO:0015812)2.94551017
99extracellular matrix organization (GO:0030198)2.94073629
100regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.92991982
101extracellular structure organization (GO:0043062)2.92900675
102regulation of extracellular matrix disassembly (GO:0010715)2.92762192
103stress fiber assembly (GO:0043149)2.92450248
104positive regulation of membrane potential (GO:0045838)2.91244972
105protein localization to endosome (GO:0036010)2.91048092
106regulation of respiratory system process (GO:0044065)2.90234060
107apoptotic cell clearance (GO:0043277)2.89915598
108positive regulation of blood vessel endothelial cell migration (GO:0043536)2.87266529
109transmission of nerve impulse (GO:0019226)2.87069394
110neurotransmitter secretion (GO:0007269)2.86958424
111positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.86643153
112regulation of synaptic transmission, glutamatergic (GO:0051966)2.85461972
113positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.84709414
114cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.84381422
115extracellular negative regulation of signal transduction (GO:1900116)2.83819021
116extracellular regulation of signal transduction (GO:1900115)2.83819021
117auditory behavior (GO:0031223)2.83712034
118cellular response to vitamin (GO:0071295)2.83265300
119detection of calcium ion (GO:0005513)2.83230862
120cAMP catabolic process (GO:0006198)2.82983445
121positive regulation of axon extension (GO:0045773)2.82864267
122cerebellar Purkinje cell differentiation (GO:0021702)2.82539009
123positive regulation of endothelial cell apoptotic process (GO:2000353)2.82448364
124substrate-dependent cell migration (GO:0006929)2.82357800
125regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.82131854
126smooth muscle tissue development (GO:0048745)2.80660826
127negative regulation of osteoblast proliferation (GO:0033689)2.77777071
128cerebral cortex radially oriented cell migration (GO:0021799)2.77651268
129opioid receptor signaling pathway (GO:0038003)2.77588919
130neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.76526128
131positive regulation of potassium ion transmembrane transport (GO:1901381)2.75454868
132neuron projection extension involved in neuron projection guidance (GO:1902284)2.73569734
133axon extension involved in axon guidance (GO:0048846)2.73569734
134membrane depolarization during action potential (GO:0086010)2.73470585
135regulation of respiratory gaseous exchange (GO:0043576)2.72897316
136dendritic spine morphogenesis (GO:0060997)2.72754558
137regulation of neurotransmitter transport (GO:0051588)2.70935720
138negative regulation of BMP signaling pathway (GO:0030514)2.70688830
139synapse assembly (GO:0007416)2.69807056
140axonal fasciculation (GO:0007413)2.69569216
141membrane hyperpolarization (GO:0060081)2.69206004
142membrane depolarization (GO:0051899)2.69195149
143glycine transport (GO:0015816)2.69147891
144endothelial cell morphogenesis (GO:0001886)2.68430377
145innervation (GO:0060384)2.68145991
146endocardial cushion development (GO:0003197)2.67941839
147amino acid import (GO:0043090)2.67865063
148long-term synaptic potentiation (GO:0060291)2.67577626
149protein retention in ER lumen (GO:0006621)2.66818739
150proline transport (GO:0015824)2.65996694
151positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.65805655
152positive regulation of synaptic transmission, GABAergic (GO:0032230)2.65498746
153negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.65009555
154negative regulation of fatty acid transport (GO:2000192)2.64145788
155cell migration involved in sprouting angiogenesis (GO:0002042)2.63515775
156wound healing, spreading of epidermal cells (GO:0035313)2.63170342
157adherens junction assembly (GO:0034333)2.62397498
158regulation of plasminogen activation (GO:0010755)2.62126542
159negative regulation of leukocyte chemotaxis (GO:0002689)2.62016156
160positive regulation of neurotransmitter transport (GO:0051590)2.61739328
161keratan sulfate catabolic process (GO:0042340)2.60568591
162neuron recognition (GO:0008038)2.59416577
163regulation of membrane repolarization (GO:0060306)2.58944692
164vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.58824796
165tooth mineralization (GO:0034505)2.57998411
166regulation of synaptic plasticity (GO:0048167)2.57558249
167gamma-aminobutyric acid signaling pathway (GO:0007214)2.56612313
168heparan sulfate proteoglycan metabolic process (GO:0030201)2.56461172
169regulation of osteoblast proliferation (GO:0033688)2.56210521
170urinary tract smooth muscle contraction (GO:0014848)2.56011845
171mechanosensory behavior (GO:0007638)2.55470177
172neuronal ion channel clustering (GO:0045161)2.55055745
173regulation of early endosome to late endosome transport (GO:2000641)2.54230965
174regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.53913227
175cyclic nucleotide catabolic process (GO:0009214)2.53901666
176regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.53895217
177regulation of axon extension involved in axon guidance (GO:0048841)2.53257961
178learning (GO:0007612)2.52756897
179peptidyl-proline hydroxylation (GO:0019511)2.51962926
180maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.51565333
181positive regulation of dendritic spine morphogenesis (GO:0061003)2.51336419
182central nervous system neuron axonogenesis (GO:0021955)2.51143809
183retina vasculature morphogenesis in camera-type eye (GO:0061299)2.49598172
184regulation of integrin-mediated signaling pathway (GO:2001044)2.49451635
185neuronal action potential propagation (GO:0019227)2.49185653
186focal adhesion assembly (GO:0048041)2.48665080
187cell-substrate adherens junction assembly (GO:0007045)2.48665080
188hyaluronan catabolic process (GO:0030214)2.48546442
189substrate adhesion-dependent cell spreading (GO:0034446)2.47442790
190positive regulation of receptor recycling (GO:0001921)2.47390088
191cellular response to amino acid stimulus (GO:0071230)2.46751962
192axon extension (GO:0048675)2.46565663
193cytoskeletal anchoring at plasma membrane (GO:0007016)2.45207724
194cortical actin cytoskeleton organization (GO:0030866)2.44000668
195lymphangiogenesis (GO:0001946)2.43179028
196negative regulation of dendrite development (GO:2000171)2.42873733
197glycosaminoglycan catabolic process (GO:0006027)2.42347899
198regulation of female receptivity (GO:0045924)2.42049338
199regulation of synaptic transmission, GABAergic (GO:0032228)2.40379563

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.12970240
2TRIM28_21343339_ChIP-Seq_HEK293_Human4.50567985
3PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.41340797
4GBX2_23144817_ChIP-Seq_PC3_Human4.03377731
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.92293910
6TP63_17297297_ChIP-ChIP_HaCaT_Human3.82564445
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.98533390
8TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.60597119
9* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.60108923
10JARID2_20064375_ChIP-Seq_MESCs_Mouse2.53515103
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.52871097
12ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.50080499
13DROSHA_22980978_ChIP-Seq_HELA_Human2.49245563
14RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.37859106
15* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.32160599
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.28930757
17* EED_16625203_ChIP-ChIP_MESCs_Mouse2.22561394
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.21601938
19RNF2_18974828_ChIP-Seq_MESCs_Mouse2.21601938
20* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.19453390
21* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.16692153
22BRD4_25478319_ChIP-Seq_HGPS_Human2.12782390
23SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.10557076
24SMAD_19615063_ChIP-ChIP_OVARY_Human2.09771946
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.09464030
26REST_21632747_ChIP-Seq_MESCs_Mouse2.06886543
27EP300_21415370_ChIP-Seq_HL-1_Mouse2.06680096
28SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.02960835
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.98028780
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.95709978
31* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.94017585
32* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.93970457
33WT1_19549856_ChIP-ChIP_CCG9911_Human1.93896971
34WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.93218008
35EZH2_27294783_Chip-Seq_ESCs_Mouse1.93128934
36CJUN_26792858_Chip-Seq_BT549_Human1.93098409
37GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.89061911
38CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.85712288
39EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.83721610
40CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.83214116
41CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.81859739
42* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.81235231
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80013150
44SMAD4_21799915_ChIP-Seq_A2780_Human1.78594217
45ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.77634893
46NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.76660704
47CLOCK_20551151_ChIP-Seq_293T_Human1.76651368
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.76100933
49ELK3_25401928_ChIP-Seq_HUVEC_Human1.66784247
50AR_21572438_ChIP-Seq_LNCaP_Human1.61876743
51P300_19829295_ChIP-Seq_ESCs_Human1.59901481
52CTBP2_25329375_ChIP-Seq_LNCAP_Human1.59722206
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.58029190
54GATA2_21666600_ChIP-Seq_HMVEC_Human1.54925067
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.53783376
56IKZF1_21737484_ChIP-ChIP_HCT116_Human1.53399707
57PCGF2_27294783_Chip-Seq_ESCs_Mouse1.51173654
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.50316085
59NRF2_20460467_ChIP-Seq_MEFs_Mouse1.49288716
60NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.49288716
61* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44103174
62FLI1_27457419_Chip-Seq_LIVER_Mouse1.44083781
63REST_18959480_ChIP-ChIP_MESCs_Mouse1.42798001
64SMC1_22415368_ChIP-Seq_MEFs_Mouse1.42724788
65NFIB_24661679_ChIP-Seq_LUNG_Mouse1.42454278
66TBX20_22328084_ChIP-Seq_HEART_Mouse1.42397377
67TBX20_22080862_ChIP-Seq_HEART_Mouse1.42397377
68RARB_27405468_Chip-Seq_BRAIN_Mouse1.41599194
69BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40302272
70STAT3_23295773_ChIP-Seq_U87_Human1.38401567
71TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.38370760
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.38034042
73* TP53_23651856_ChIP-Seq_MEFs_Mouse1.37312102
74* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37309706
75SMAD3_21741376_ChIP-Seq_EPCs_Human1.35815209
76POU3F2_20337985_ChIP-ChIP_501MEL_Human1.35667788
77SOX9_24532713_ChIP-Seq_HFSC_Mouse1.35467782
78RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.35144136
79P300_27058665_Chip-Seq_ZR-75-30cells_Human1.34884525
80AR_25329375_ChIP-Seq_VCAP_Human1.34662187
81CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.34588913
82SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33507592
83SUZ12_27294783_Chip-Seq_NPCs_Mouse1.33377517
84CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32737412
85TCF4_23295773_ChIP-Seq_U87_Human1.31501603
86E2F1_18555785_Chip-Seq_ESCs_Mouse1.31096678
87NANOG_18555785_Chip-Seq_ESCs_Mouse1.30384186
88RNF2_27304074_Chip-Seq_NSC_Mouse1.30136807
89TP53_20018659_ChIP-ChIP_R1E_Mouse1.29678908
90CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27969761
91KDM2B_26808549_Chip-Seq_K562_Human1.27644561
92IGF1R_20145208_ChIP-Seq_DFB_Human1.27338016
93AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27183372
94TP53_16413492_ChIP-PET_HCT116_Human1.27156875
95NR3C1_21868756_ChIP-Seq_MCF10A_Human1.25822737
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.24851356
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24851356
98UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.24429313
99TP53_22127205_ChIP-Seq_IMR90_Human1.24212293
100WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24099802
101CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23041038
102KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22688850
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22600324
104MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.22338580
105JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21614418
106EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21193517
107VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.20896525
108SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20785962
109NFE2_27457419_Chip-Seq_LIVER_Mouse1.19842395
110SOX2_21211035_ChIP-Seq_LN229_Gbm1.19753709
111ARNT_22903824_ChIP-Seq_MCF-7_Human1.19040684
112PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19017163
113LXR_22292898_ChIP-Seq_THP-1_Human1.18540729
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.18507668
115HIF1A_21447827_ChIP-Seq_MCF-7_Human1.18287397
116TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17780387
117* RING1B_27294783_Chip-Seq_ESCs_Mouse1.17651509
118SA1_22415368_ChIP-Seq_MEFs_Mouse1.17577655
119AR_19668381_ChIP-Seq_PC3_Human1.17222147
120ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17055981
121TAF15_26573619_Chip-Seq_HEK293_Human1.15467337
122RUNX2_22187159_ChIP-Seq_PCA_Human1.14966411
123AHR_22903824_ChIP-Seq_MCF-7_Human1.14924116
124P53_22387025_ChIP-Seq_ESCs_Mouse1.14923030
125FUS_26573619_Chip-Seq_HEK293_Human1.14848164
126DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.14194988
127YAP1_20516196_ChIP-Seq_MESCs_Mouse1.14026582
128JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13663753
129NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.13394615
130P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13202313
131ER_23166858_ChIP-Seq_MCF-7_Human1.12663153
132CMYC_18555785_Chip-Seq_ESCs_Mouse1.10718690
133ZFP281_27345836_Chip-Seq_ESCs_Mouse1.10406535
134TET1_21490601_ChIP-Seq_MESCs_Mouse1.10279634
135TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10203722
136CTNNB1_20460455_ChIP-Seq_HCT116_Human1.09988479
137* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.09981338
138* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.09981338
139TP53_18474530_ChIP-ChIP_U2OS_Human1.09210016
140ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08366441
141OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07610127
142STAT3_18555785_Chip-Seq_ESCs_Mouse1.07094726
143SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06948702
144TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04159486
145MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03951763
146* UBF1/2_26484160_Chip-Seq_HMECs_Human1.03880001
147TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.03874574
148EZH2_27294783_Chip-Seq_NPCs_Mouse1.03315002
149PPAR_26484153_Chip-Seq_NCI-H1993_Human1.02958722
150SMAD3_21741376_ChIP-Seq_HESCs_Human1.02951583
151* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02842652
152SOX2_18555785_Chip-Seq_ESCs_Mouse1.02467920
153MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02215533
154RING1B_27294783_Chip-Seq_NPCs_Mouse1.02034859
155ISL1_27105846_Chip-Seq_CPCs_Mouse0.99341188
156ERG_21242973_ChIP-ChIP_JURKAT_Human0.97817978
157MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.96962996
158TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.96351778
159PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.94772453
160EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94093606
161HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.92803247
162ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.87732220
163DNAJC2_21179169_ChIP-ChIP_NT2_Human0.87713792
164NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.87334168
165OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.86161093
166STAT6_21828071_ChIP-Seq_BEAS2B_Human0.86053132
167* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.85619648
168P63_26484246_Chip-Seq_KERATINOCYTES_Human0.85580568
169SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.84975931
170NR3C1_23031785_ChIP-Seq_PC12_Mouse0.84381040

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.34281235
2MP0005275_abnormal_skin_tensile4.70719765
3MP0004859_abnormal_synaptic_plasticity4.63298381
4MP0003705_abnormal_hypodermis_morpholog4.48481936
5MP0001958_emphysema4.44384076
6MP0004272_abnormal_basement_membrane3.75043226
7MP0005257_abnormal_intraocular_pressure3.65792465
8MP0003880_abnormal_central_pattern3.12111394
9MP0005646_abnormal_pituitary_gland3.10735021
10MP0003635_abnormal_synaptic_transmissio3.06057722
11MP0009384_cardiac_valve_regurgitation2.85896756
12MP0000569_abnormal_digit_pigmentation2.82225233
13MP0009046_muscle_twitch2.79552622
14MP0003787_abnormal_imprinting2.72486872
15MP0009745_abnormal_behavioral_response2.71145952
16MP0009780_abnormal_chondrocyte_physiolo2.65004438
17MP0002063_abnormal_learning/memory/cond2.64717179
18MP0001486_abnormal_startle_reflex2.63768909
19MP0006054_spinal_hemorrhage2.61782651
20MP0005423_abnormal_somatic_nervous2.56402695
21MP0005645_abnormal_hypothalamus_physiol2.55782205
22MP0002572_abnormal_emotion/affect_behav2.34086113
23MP0001968_abnormal_touch/_nociception2.32738211
24MP0006292_abnormal_olfactory_placode2.32382349
25MP0005171_absent_coat_pigmentation2.23399566
26MP0002064_seizures2.22238034
27MP0002735_abnormal_chemical_nociception2.20551896
28MP0003566_abnormal_cell_adhesion2.20463292
29MP0001188_hyperpigmentation2.20428394
30MP0010368_abnormal_lymphatic_system2.19063700
31MP0004270_analgesia2.17317641
32MP0001542_abnormal_bone_strength2.06372668
33MP0002822_catalepsy2.02627954
34MP0002734_abnormal_mechanical_nocicepti1.98570864
35MP0002060_abnormal_skin_morphology1.95576251
36MP0002736_abnormal_nociception_after1.95443165
37MP0002272_abnormal_nervous_system1.93549484
38MP0002295_abnormal_pulmonary_circulatio1.90386208
39MP0002557_abnormal_social/conspecific_i1.89602425
40MP0000767_abnormal_smooth_muscle1.86620474
41MP0005508_abnormal_skeleton_morphology1.84386008
42MP0001984_abnormal_olfaction1.75505391
43MP0003091_abnormal_cell_migration1.73888365
44MP0000778_abnormal_nervous_system1.72752771
45MP0000566_synostosis1.72500407
46MP0002067_abnormal_sensory_capabilities1.71642553
47MP0001440_abnormal_grooming_behavior1.69348864
48MP0002108_abnormal_muscle_morphology1.66818234
49MP0005023_abnormal_wound_healing1.62740815
50MP0001502_abnormal_circadian_rhythm1.57627147
51MP0005551_abnormal_eye_electrophysiolog1.57191027
52MP0002184_abnormal_innervation1.55446042
53MP0003950_abnormal_plasma_membrane1.48780771
54MP0001299_abnormal_eye_distance/1.48315962
55MP0005386_behavior/neurological_phenoty1.48250859
56MP0004924_abnormal_behavior1.48250859
57MP0005595_abnormal_vascular_smooth1.46235608
58MP0002638_abnormal_pupillary_reflex1.45524102
59MP0008569_lethality_at_weaning1.45326259
60MP0001501_abnormal_sleep_pattern1.43427497
61MP0002896_abnormal_bone_mineralization1.43091238
62MP0000013_abnormal_adipose_tissue1.42151512
63MP0002877_abnormal_melanocyte_morpholog1.34018303
64MP0001970_abnormal_pain_threshold1.33566374
65MP0003879_abnormal_hair_cell1.32020029
66MP0003122_maternal_imprinting1.29406599
67MP0006276_abnormal_autonomic_nervous1.28318949
68MP0000015_abnormal_ear_pigmentation1.27838964
69MP0000534_abnormal_ureter_morphology1.25904436
70MP0004858_abnormal_nervous_system1.24456204
71MP0002733_abnormal_thermal_nociception1.23730582
72MP0001243_abnormal_dermal_layer1.22167596
73MP0004811_abnormal_neuron_physiology1.22164193
74MP0009250_abnormal_appendicular_skeleto1.19993270
75MP0010386_abnormal_urinary_bladder1.19396238
76MP0005394_taste/olfaction_phenotype1.17936500
77MP0005499_abnormal_olfactory_system1.17936500
78MP0004215_abnormal_myocardial_fiber1.17674413
79MP0002882_abnormal_neuron_morphology1.16820760
80MP0004742_abnormal_vestibular_system1.16431052
81MP0004885_abnormal_endolymph1.15800632
82MP0003633_abnormal_nervous_system1.14514075
83MP0010030_abnormal_orbit_morphology1.14439514
84MP0003137_abnormal_impulse_conducting1.13992814
85MP0000955_abnormal_spinal_cord1.13942059
86MP0001986_abnormal_taste_sensitivity1.12337865
87MP0005670_abnormal_white_adipose1.08622507
88MP0000631_abnormal_neuroendocrine_gland1.07806337
89MP0005409_darkened_coat_color1.07592439
90MP0003690_abnormal_glial_cell1.07480788
91MP0001849_ear_inflammation1.07410383
92MP0001177_atelectasis1.06717901
93MP0005253_abnormal_eye_physiology1.05371701
94MP0001348_abnormal_lacrimal_gland1.03858473
95MP0001963_abnormal_hearing_physiology1.01656433
96MP0002066_abnormal_motor_capabilities/c1.00544262
97MP0004134_abnormal_chest_morphology0.98927644
98MP0000749_muscle_degeneration0.98030258
99MP0003385_abnormal_body_wall0.96926603
100MP0005390_skeleton_phenotype0.96115635
101MP0000759_abnormal_skeletal_muscle0.95899596
102MP0000733_abnormal_muscle_development0.95388320
103MP0003631_nervous_system_phenotype0.95197713
104MP0002152_abnormal_brain_morphology0.94795144
105MP0005248_abnormal_Harderian_gland0.94736576
106MP0003329_amyloid_beta_deposits0.93671202
107MP0003121_genomic_imprinting0.92656839
108MP0000428_abnormal_craniofacial_morphol0.91560473
109MP0001879_abnormal_lymphatic_vessel0.90302409
110MP0004085_abnormal_heartbeat0.89965623
111MP0000163_abnormal_cartilage_morphology0.89777898
112MP0003045_fibrosis0.89328399
113MP0000762_abnormal_tongue_morphology0.89013035
114MP0004142_abnormal_muscle_tone0.88828538
115MP0003183_abnormal_peptide_metabolism0.87364308
116MP0002876_abnormal_thyroid_physiology0.87219371
117MP0005388_respiratory_system_phenotype0.84315806
118MP0002133_abnormal_respiratory_system0.84315806
119MP0000751_myopathy0.83964914
120MP0010352_gastrointestinal_tract_polyps0.83224001
121MP0000467_abnormal_esophagus_morphology0.81651169
122MP0005377_hearing/vestibular/ear_phenot0.81574662
123MP0003878_abnormal_ear_physiology0.81574662
124MP0002752_abnormal_somatic_nervous0.81430397
125MP0000026_abnormal_inner_ear0.80052929
126MP0003283_abnormal_digestive_organ0.79861822
127MP0002115_abnormal_skeleton_extremities0.78911353
128MP0003942_abnormal_urinary_system0.78494229
129MP0002128_abnormal_blood_circulation0.77878765
130MP0000049_abnormal_middle_ear0.77677565
131MP0003279_aneurysm0.77233285
132MP0002933_joint_inflammation0.77099676
133MP0005197_abnormal_uvea_morphology0.77085809
134MP0005164_abnormal_response_to0.76674365
135MP0002089_abnormal_postnatal_growth/wei0.76590847
136MP0001346_abnormal_lacrimal_gland0.76372312
137MP0000462_abnormal_digestive_system0.75916942
138MP0000681_abnormal_thyroid_gland0.75829060
139MP0002998_abnormal_bone_remodeling0.75384289
140MP0003634_abnormal_glial_cell0.74458585
141MP0003136_yellow_coat_color0.74014991
142MP0003941_abnormal_skin_development0.73886484
143MP0005379_endocrine/exocrine_gland_phen0.73787721
144MP0002909_abnormal_adrenal_gland0.72885144
145MP0000920_abnormal_myelination0.71573170
146MP0008789_abnormal_olfactory_epithelium0.69685395
147MP0009697_abnormal_copulation0.69419810
148MP0001905_abnormal_dopamine_level0.68884914
149MP0009840_abnormal_foam_cell0.68562813
150MP0003115_abnormal_respiratory_system0.67942376
151MP0000003_abnormal_adipose_tissue0.67690473
152MP0001485_abnormal_pinna_reflex0.66877714
153MP0002938_white_spotting0.66271645
154MP0001529_abnormal_vocalization0.66024707
155MP0005503_abnormal_tendon_morphology0.64907331
156MP0003632_abnormal_nervous_system0.64871688
157MP0002229_neurodegeneration0.64238524
158MP0004084_abnormal_cardiac_muscle0.64227281
159MP0000432_abnormal_head_morphology0.63736643
160MP0002113_abnormal_skeleton_development0.63378373
161MP0002090_abnormal_vision0.63247933
162MP0005623_abnormal_meninges_morphology0.63149334
163MP0005165_increased_susceptibility_to0.62930155
164MP0000579_abnormal_nail_morphology0.62869440
165MP0006072_abnormal_retinal_apoptosis0.62430587
166MP0001614_abnormal_blood_vessel0.61755182
167MP0006138_congestive_heart_failure0.60958957
168MP0002168_other_aberrant_phenotype0.60662176
169MP0003300_gastrointestinal_ulcer0.60311666
170MP0001915_intracranial_hemorrhage0.59753409
171MP0004036_abnormal_muscle_relaxation0.59722477
172MP0000604_amyloidosis0.59049695
173MP0002932_abnormal_joint_morphology0.58608440
174MP0009053_abnormal_anal_canal0.56821330
175MP0005369_muscle_phenotype0.56518886
176MP0005620_abnormal_muscle_contractility0.56506578
177MP0002177_abnormal_outer_ear0.56485137
178MP0003448_altered_tumor_morphology0.56334313
179MP0000750_abnormal_muscle_regeneration0.54462046
180MP0002116_abnormal_craniofacial_bone0.54150866
181MP0003795_abnormal_bone_structure0.53845064
182MP0004087_abnormal_muscle_fiber0.53481519
183MP0001175_abnormal_lung_morphology0.53169220

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)7.62033907
2Premature rupture of membranes (HP:0001788)7.17989625
3Focal motor seizures (HP:0011153)6.16174007
4Aortic aneurysm (HP:0004942)5.16402089
5Ankle contracture (HP:0006466)4.99834751
6Febrile seizures (HP:0002373)4.91950388
7Vascular tortuosity (HP:0004948)4.74754603
8Aortic dissection (HP:0002647)4.71318211
9Type 1 muscle fiber predominance (HP:0003803)4.46342173
10Epileptic encephalopathy (HP:0200134)4.41815156
11Bladder diverticulum (HP:0000015)4.23544215
12Atrophic scars (HP:0001075)4.17812606
13Soft skin (HP:0000977)4.14133905
14Arterial tortuosity (HP:0005116)4.06223932
15Broad metatarsal (HP:0001783)4.00405479
16Focal seizures (HP:0007359)3.92663785
17Spinal rigidity (HP:0003306)3.92095699
18Slender build (HP:0001533)3.80654207
19Wormian bones (HP:0002645)3.75517938
20Shallow orbits (HP:0000586)3.65859962
21Neonatal short-limb short stature (HP:0008921)3.57788752
22Cervical subluxation (HP:0003308)3.54275029
23Abnormality of dentin (HP:0010299)3.51422861
24Fragile skin (HP:0001030)3.39677279
25Progressive cerebellar ataxia (HP:0002073)3.37235935
26Genu recurvatum (HP:0002816)3.36499709
27Vertebral compression fractures (HP:0002953)3.35735804
28Increased variability in muscle fiber diameter (HP:0003557)3.30127359
29Dilatation of the ascending aorta (HP:0005111)3.21592196
30Overgrowth (HP:0001548)3.11736759
31Absent/shortened dynein arms (HP:0200106)3.06918722
32Dynein arm defect of respiratory motile cilia (HP:0012255)3.06918722
33Blue sclerae (HP:0000592)3.00885171
34Bowel diverticulosis (HP:0005222)3.00682199
35Spondylolisthesis (HP:0003302)2.97547837
36Cerebral aneurysm (HP:0004944)2.94811232
37Mildly elevated creatine phosphokinase (HP:0008180)2.94051885
38Aortic regurgitation (HP:0001659)2.93646990
39Atonic seizures (HP:0010819)2.85361119
40Joint laxity (HP:0001388)2.84107766
41Biconcave vertebral bodies (HP:0004586)2.82543599
42Myokymia (HP:0002411)2.80709850
43Mitral regurgitation (HP:0001653)2.79440311
44Gaze-evoked nystagmus (HP:0000640)2.77763195
45Abnormality of skeletal muscle fiber size (HP:0012084)2.75348032
46Hypoventilation (HP:0002791)2.75068887
47Hyperventilation (HP:0002883)2.73881904
48Wrist flexion contracture (HP:0001239)2.73587969
49Mitral valve prolapse (HP:0001634)2.72879238
50Hyperextensible skin (HP:0000974)2.64915046
51Broad-based gait (HP:0002136)2.62527437
52Dialeptic seizures (HP:0011146)2.61522228
53Increased connective tissue (HP:0009025)2.61113567
54Abnormal hair whorl (HP:0010721)2.58716953
55Peritonitis (HP:0002586)2.58443205
56Visual hallucinations (HP:0002367)2.57262369
57Absence seizures (HP:0002121)2.54014183
58Action tremor (HP:0002345)2.50518219
59Congenital stationary night blindness (HP:0007642)2.49126352
60Aortic valve stenosis (HP:0001650)2.47405983
61Elbow flexion contracture (HP:0002987)2.45943691
62Joint stiffness (HP:0001387)2.45345389
63Aneurysm (HP:0002617)2.44981215
64Osteolytic defects of the phalanges of the hand (HP:0009771)2.43498375
65Osteolytic defects of the hand bones (HP:0009699)2.43498375
66Genetic anticipation (HP:0003743)2.42933948
67Generalized tonic-clonic seizures (HP:0002069)2.40784533
68Mild short stature (HP:0003502)2.37188968
69Hemiparesis (HP:0001269)2.34714179
70Prolonged QT interval (HP:0001657)2.28890989
71Narrow nasal bridge (HP:0000446)2.28198876
72Absent speech (HP:0001344)2.25829285
73Septo-optic dysplasia (HP:0100842)2.24272779
74Mitral stenosis (HP:0001718)2.22094805
75Wide anterior fontanel (HP:0000260)2.21935854
76Abnormality of the labia minora (HP:0012880)2.20866221
77Aplasia involving bones of the extremities (HP:0009825)2.20766456
78Aplasia involving bones of the upper limbs (HP:0009823)2.20766456
79Aplasia of the phalanges of the hand (HP:0009802)2.20766456
80Coronal craniosynostosis (HP:0004440)2.19312216
81Abnormality of the acetabulum (HP:0003170)2.18935729
82Hypoplasia of the iris (HP:0007676)2.18036108
83Round ear (HP:0100830)2.17368215
84Upper limb amyotrophy (HP:0009129)2.16653782
85Distal upper limb amyotrophy (HP:0007149)2.16653782
86Abnormality of the nasal septum (HP:0000419)2.16405989
87Blue irides (HP:0000635)2.15207846
88Generalized amyotrophy (HP:0003700)2.11870473
89Natal tooth (HP:0000695)2.11679578
90Disproportionate tall stature (HP:0001519)2.08548647
91Abnormal EKG (HP:0003115)2.08281915
92Dysdiadochokinesis (HP:0002075)2.07094939
93Atrial fibrillation (HP:0005110)2.06266118
94Stomach cancer (HP:0012126)2.06023161
95Neoplasm of the adrenal cortex (HP:0100641)2.04196682
96Ulnar bowing (HP:0003031)2.02762216
97Abnormal delivery (HP:0001787)2.01899992
98Fetal akinesia sequence (HP:0001989)2.01516216
99Camptodactyly of toe (HP:0001836)2.01198715
100Epileptiform EEG discharges (HP:0011182)2.00703060
101Chromosomal breakage induced by crosslinking agents (HP:0003221)1.99498334
102Protruding ear (HP:0000411)1.98911922
103Broad ribs (HP:0000885)1.98789300
104Poor eye contact (HP:0000817)1.98755626
105Cutaneous syndactyly (HP:0012725)1.98326267
106Chronic hepatic failure (HP:0100626)1.97788706
107Long toe (HP:0010511)1.93467873
108Primary atrial arrhythmia (HP:0001692)1.92512141
109Spinal canal stenosis (HP:0003416)1.92298019
110Abnormal ciliary motility (HP:0012262)1.91715481
111Central scotoma (HP:0000603)1.90700951
112Flat cornea (HP:0007720)1.90396027
113Ectopia lentis (HP:0001083)1.89965662
114EEG with generalized epileptiform discharges (HP:0011198)1.89707594
115Excessive salivation (HP:0003781)1.88570414
116Drooling (HP:0002307)1.88570414
117Absent eyebrow (HP:0002223)1.87441854
118Limb-girdle muscle weakness (HP:0003325)1.87132566
119Cutaneous finger syndactyly (HP:0010554)1.86632787
120Hyperacusis (HP:0010780)1.86400220
121Ovoid vertebral bodies (HP:0003300)1.86276344
122Decreased central vision (HP:0007663)1.86157976
123Pulmonary artery stenosis (HP:0004415)1.84542159
124Optic nerve hypoplasia (HP:0000609)1.83400998
125Impaired vibration sensation in the lower limbs (HP:0002166)1.82845201
126Nonimmune hydrops fetalis (HP:0001790)1.82169646
127Abnormal respiratory motile cilium physiology (HP:0012261)1.80280208
128Postural instability (HP:0002172)1.80215450
129Abnormal eating behavior (HP:0100738)1.80059767
130Median cleft lip (HP:0000161)1.79822816
131Hallux valgus (HP:0001822)1.78453714
132Cardiovascular calcification (HP:0011915)1.78440147
133Hypsarrhythmia (HP:0002521)1.78280089
134Tented upper lip vermilion (HP:0010804)1.78125582
135Polyphagia (HP:0002591)1.78092117
136Obstructive sleep apnea (HP:0002870)1.78029006
137Short nail (HP:0001799)1.77879446
138Protruding tongue (HP:0010808)1.77554861
139Deviation of the hallux (HP:0010051)1.77464168
140Mesomelia (HP:0003027)1.76935679
141Inguinal hernia (HP:0000023)1.76819367
142Abnormal respiratory epithelium morphology (HP:0012253)1.76452116
143Abnormal respiratory motile cilium morphology (HP:0005938)1.76452116
144Hand muscle atrophy (HP:0009130)1.76018767
145Delayed closure of the anterior fontanelle (HP:0001476)1.75987801
146Limb dystonia (HP:0002451)1.75640242
147Urinary bladder sphincter dysfunction (HP:0002839)1.75289664
148Emphysema (HP:0002097)1.74818319
149Lower limb amyotrophy (HP:0007210)1.74415175
150Achilles tendon contracture (HP:0001771)1.74141273
151Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.73821979
152Abnormality of incisor morphology (HP:0011063)1.73028657
153Syncope (HP:0001279)1.71721536
154Distal lower limb amyotrophy (HP:0008944)1.71626322
155Renal duplication (HP:0000075)1.71620994
156Supraventricular tachycardia (HP:0004755)1.71499533
157Midline defect of the nose (HP:0004122)1.71362020
158Long nose (HP:0003189)1.70105252
159Bradycardia (HP:0001662)1.69719903
160Flared iliac wings (HP:0002869)1.67853454
161Generalized hypopigmentation of hair (HP:0011358)1.67616218
162Fair hair (HP:0002286)1.67080420
163Abnormality of chromosome segregation (HP:0002916)1.66977782
164Delayed cranial suture closure (HP:0000270)1.66010120
165Widely spaced teeth (HP:0000687)1.65881860
166Supraventricular arrhythmia (HP:0005115)1.65135674
167Breech presentation (HP:0001623)1.64577518
168Venous abnormality (HP:0002624)1.64576109
169Osteoarthritis (HP:0002758)1.64374312
170Premature skin wrinkling (HP:0100678)1.63923350
171Gait imbalance (HP:0002141)1.63801296
172Thin bony cortex (HP:0002753)1.62545275
173Sleep apnea (HP:0010535)1.61991822
174Glioma (HP:0009733)1.61976497
175Hemiplegia (HP:0002301)1.61826069
176Abnormality of the anterior chamber (HP:0000593)1.61774649
177Congenital sensorineural hearing impairment (HP:0008527)1.61653924
178Dyschromatopsia (HP:0007641)1.61559995
179Follicular hyperkeratosis (HP:0007502)1.61351318
180Joint contractures involving the joints of the feet (HP:0100492)1.61335123
181Flexion contracture of toe (HP:0005830)1.61335123
182Redundant skin (HP:0001582)1.59923934
183Medial flaring of the eyebrow (HP:0010747)1.59743725
184Thin skin (HP:0000963)1.59737460
185Aplasia/Hypoplasia of the fovea (HP:0008060)1.59270898
186Hypoplasia of the fovea (HP:0007750)1.59270898
187Abnormality of molar (HP:0011077)1.58573238
188Abnormality of molar morphology (HP:0011070)1.58573238
189Truncal ataxia (HP:0002078)1.58235065
190Stereotypic behavior (HP:0000733)1.57835523
191Chromsome breakage (HP:0040012)1.55983196
192Choroideremia (HP:0001139)1.55726877
193Abnormality of salivation (HP:0100755)1.54753937
194Hip dysplasia (HP:0001385)1.54457152
195Abnormality of binocular vision (HP:0011514)1.54348146
196Diplopia (HP:0000651)1.54348146
197Abnormality of the dental pulp (HP:0006479)1.54162198

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDGFRA4.26607008
2MARK13.93681062
3MYLK3.90709384
4DDR23.37537751
5NTRK33.36763352
6CASK3.23609410
7EPHA43.20703260
8MAP2K72.95221191
9TTN2.92386287
10NTRK12.86838910
11NEK92.73170285
12RIPK12.70386002
13PRPF4B2.67544481
14TGFBR22.67364443
15TNIK2.42537973
16PTK22.23225743
17NTRK22.21133455
18INSRR2.20242953
19TRIB32.11926639
20SGK22.11183886
21ERN12.10179765
22MAPK132.01266640
23SIK11.99018851
24ZAK1.97898322
25ERBB31.96287783
26PAK21.94354760
27TESK11.92352271
28MAP3K41.90523477
29SIK31.90434949
30EPHB21.90071035
31LIMK11.86546696
32ADRBK21.81234341
33PRKD31.72890984
34STK381.68754623
35SGK31.57604762
36AKT31.51208742
37MINK11.48446172
38PDGFRB1.48173824
39SGK2231.47927140
40SGK4941.47927140
41SIK21.47689661
42PHKG11.44470659
43PHKG21.44470659
44DAPK21.40993508
45PINK11.37306436
46PRKCG1.35998962
47NEK61.33287029
48ERBB41.30267875
49PAK61.29849924
50ROCK21.28941410
51BMPR21.23729440
52PLK21.18916338
53PAK41.18379873
54ARAF1.17021248
55MAP3K121.15006257
56ABL21.12427801
57ROCK11.11646055
58KIT1.11259375
59ICK1.10643361
60RPS6KA21.10522563
61CAMKK11.10416382
62MAP3K91.06038469
63CDK31.04952993
64STK38L1.03896436
65MOS1.03335201
66CDK51.02308437
67MET0.98937955
68YES10.98259278
69CAMK40.96662489
70MAP3K60.95553712
71PRKCE0.95428262
72CAMK10.94708003
73TAOK20.94302977
74MAPK70.94241480
75PIK3CG0.93324200
76CCNB10.92857066
77ADRBK10.92577880
78MAP2K40.92485476
79TRPM70.92425081
80KSR20.91071973
81BMPR1B0.90985417
82EPHB10.90442418
83EIF2AK20.89762429
84PRKG20.89444318
85PIM20.87331386
86DAPK30.86405190
87SGK10.85417692
88DAPK10.84607095
89CAMK2A0.83573200
90MUSK0.82864535
91DYRK1A0.82760804
92CAMK2G0.82679475
93MTOR0.80961410
94PRKCH0.80855658
95LMTK20.80807398
96MAP3K70.78150991
97PRKD10.74830063
98MARK20.73650821
99JAK10.72180764
100PKN20.71105324
101MAPK120.69329645
102TNK20.68910484
103LATS10.67817989
104KSR10.65739395
105CAMKK20.65215939
106CDC42BPA0.64626715
107PKN10.64472282
108MAP3K30.63826846
109GRK10.61563324
110FES0.59476023
111FLT30.58836796
112IRAK30.58522439
113GRK50.57290310
114MAP2K10.55992311
115ILK0.54693998
116CAMK1G0.54542031
117RPS6KB10.53841254
118GRK70.53680462
119DMPK0.52927745
120LATS20.52353112
121PRKCZ0.51553234
122GSK3A0.49358342
123STK110.47348418
124TXK0.46712476
125MELK0.46627573
126RPS6KL10.45561231
127RPS6KC10.45561231
128RIPK40.45361840
129BMX0.45303854
130WNK30.43683552
131PRKG10.43504463
132PIK3CA0.43363773
133FGFR40.42761807
134BRAF0.42604929
135CDK180.41477373
136GSK3B0.40960767
137TIE10.40882707
138PDPK10.40597763
139CAMK2D0.40418953
140MAP2K30.39908284
141PAK30.39708600
142MAPK80.39580337
143CAMK2B0.38980961
144EPHA20.38253410
145MAPK40.38084394
146RPS6KA30.38065119
147SRC0.37867435
148RET0.37620518
149EEF2K0.36806163
150CDK150.36568104
151PLK30.36344310
152MAP3K130.35335050
153MAP2K60.35188892
154MKNK20.35009549
155UHMK10.34504724
156CLK10.34503714
157PRKD20.34451083
158DYRK1B0.34231252
159WNK10.32975095
160PTK2B0.32746375
161SRPK10.32297126
162PRKACA0.31808160
163PRKCB0.30928319

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.85219643
2Nicotine addiction_Homo sapiens_hsa050333.81821658
3Focal adhesion_Homo sapiens_hsa045102.82367378
4Morphine addiction_Homo sapiens_hsa050322.73575538
5Circadian entrainment_Homo sapiens_hsa047132.69624867
6Olfactory transduction_Homo sapiens_hsa047402.64738186
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.56313928
8Synaptic vesicle cycle_Homo sapiens_hsa047212.52234027
9Glutamatergic synapse_Homo sapiens_hsa047242.50450503
10GABAergic synapse_Homo sapiens_hsa047272.45780530
11Insulin secretion_Homo sapiens_hsa049112.22333236
12Taste transduction_Homo sapiens_hsa047422.14541808
13Amphetamine addiction_Homo sapiens_hsa050312.03348462
14Salivary secretion_Homo sapiens_hsa049701.92596224
15Long-term potentiation_Homo sapiens_hsa047201.86679192
16Amoebiasis_Homo sapiens_hsa051461.86597915
17Protein digestion and absorption_Homo sapiens_hsa049741.84727410
18Cholinergic synapse_Homo sapiens_hsa047251.75372081
19Proteoglycans in cancer_Homo sapiens_hsa052051.71650672
20Calcium signaling pathway_Homo sapiens_hsa040201.68381492
21AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.66849443
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.65321168
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.64844501
24Serotonergic synapse_Homo sapiens_hsa047261.64780878
25Dopaminergic synapse_Homo sapiens_hsa047281.60355036
26Renin secretion_Homo sapiens_hsa049241.50697195
27Gastric acid secretion_Homo sapiens_hsa049711.49965881
28Cocaine addiction_Homo sapiens_hsa050301.49317296
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.46429379
30Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44217920
31cAMP signaling pathway_Homo sapiens_hsa040241.43427504
32Dilated cardiomyopathy_Homo sapiens_hsa054141.43015793
33Phototransduction_Homo sapiens_hsa047441.41766188
34Oxytocin signaling pathway_Homo sapiens_hsa049211.40024575
35Prion diseases_Homo sapiens_hsa050201.36485098
36PI3K-Akt signaling pathway_Homo sapiens_hsa041511.33118707
37Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.31630405
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.31151332
39Axon guidance_Homo sapiens_hsa043601.30493211
40Long-term depression_Homo sapiens_hsa047301.30294054
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.28458365
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27172626
43Small cell lung cancer_Homo sapiens_hsa052221.24976609
44Phosphatidylinositol signaling system_Homo sapiens_hsa040701.24827004
45Bladder cancer_Homo sapiens_hsa052191.23356319
46Adherens junction_Homo sapiens_hsa045201.21391164
47Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.20791196
48Type II diabetes mellitus_Homo sapiens_hsa049301.20454932
49MicroRNAs in cancer_Homo sapiens_hsa052061.19978580
50Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.12120727
51GnRH signaling pathway_Homo sapiens_hsa049121.08302089
52Circadian rhythm_Homo sapiens_hsa047101.06742790
53cGMP-PKG signaling pathway_Homo sapiens_hsa040221.05998782
54Malaria_Homo sapiens_hsa051441.05323215
55Other glycan degradation_Homo sapiens_hsa005111.05305985
56TGF-beta signaling pathway_Homo sapiens_hsa043501.04731132
57Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.04514739
58Central carbon metabolism in cancer_Homo sapiens_hsa052300.99704916
59Pathways in cancer_Homo sapiens_hsa052000.96357351
60Gap junction_Homo sapiens_hsa045400.96015842
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.94346778
62Melanogenesis_Homo sapiens_hsa049160.94315623
63Chronic myeloid leukemia_Homo sapiens_hsa052200.93823317
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.90318990
65ErbB signaling pathway_Homo sapiens_hsa040120.90185325
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.87007271
67Wnt signaling pathway_Homo sapiens_hsa043100.86171944
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.82842625
69MAPK signaling pathway_Homo sapiens_hsa040100.82119407
70Estrogen signaling pathway_Homo sapiens_hsa049150.80598645
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79347900
72Collecting duct acid secretion_Homo sapiens_hsa049660.77992545
73Basal cell carcinoma_Homo sapiens_hsa052170.77345683
74mTOR signaling pathway_Homo sapiens_hsa041500.76108945
75Lysosome_Homo sapiens_hsa041420.76104194
76Dorso-ventral axis formation_Homo sapiens_hsa043200.75524448
77Endocytosis_Homo sapiens_hsa041440.75207578
78Phospholipase D signaling pathway_Homo sapiens_hsa040720.75091904
79Platelet activation_Homo sapiens_hsa046110.74119470
80Type I diabetes mellitus_Homo sapiens_hsa049400.73517217
81Choline metabolism in cancer_Homo sapiens_hsa052310.72241504
82Ovarian steroidogenesis_Homo sapiens_hsa049130.72056347
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71933476
84Glioma_Homo sapiens_hsa052140.71576035
85Cardiac muscle contraction_Homo sapiens_hsa042600.70960306
86Ras signaling pathway_Homo sapiens_hsa040140.69862698
87Prostate cancer_Homo sapiens_hsa052150.69416966
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.68660004
89Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68324652
90Pancreatic secretion_Homo sapiens_hsa049720.68207486
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.68074270
92Inositol phosphate metabolism_Homo sapiens_hsa005620.67986983
93Renal cell carcinoma_Homo sapiens_hsa052110.66765770
94Pancreatic cancer_Homo sapiens_hsa052120.66681275
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.66287568
96Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.66195840
97Rap1 signaling pathway_Homo sapiens_hsa040150.65929490
98SNARE interactions in vesicular transport_Homo sapiens_hsa041300.64700581
99VEGF signaling pathway_Homo sapiens_hsa043700.63646593
100Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.63164176
101Hedgehog signaling pathway_Homo sapiens_hsa043400.61068662
102Complement and coagulation cascades_Homo sapiens_hsa046100.59812637
103Tight junction_Homo sapiens_hsa045300.59381429
104Endometrial cancer_Homo sapiens_hsa052130.59323916
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58372388
106Thyroid hormone synthesis_Homo sapiens_hsa049180.57393592
107Mineral absorption_Homo sapiens_hsa049780.56265436
108Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54907573
109AMPK signaling pathway_Homo sapiens_hsa041520.53155888
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51794019
111Chemokine signaling pathway_Homo sapiens_hsa040620.50806746
112Pertussis_Homo sapiens_hsa051330.49722569
113Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.46842304
114Sphingolipid metabolism_Homo sapiens_hsa006000.46626055
115Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44898841
116Melanoma_Homo sapiens_hsa052180.44886470
117Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.44579423
118Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44267972
119Hippo signaling pathway_Homo sapiens_hsa043900.40958481
120Colorectal cancer_Homo sapiens_hsa052100.39655618
121African trypanosomiasis_Homo sapiens_hsa051430.39291236
122Rheumatoid arthritis_Homo sapiens_hsa053230.39207839
123Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38907503
124Oocyte meiosis_Homo sapiens_hsa041140.38086555
125Neurotrophin signaling pathway_Homo sapiens_hsa047220.37692985
126Alcoholism_Homo sapiens_hsa050340.37672872
127Glucagon signaling pathway_Homo sapiens_hsa049220.35552284
128Sphingolipid signaling pathway_Homo sapiens_hsa040710.35289134
129Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32398116
130Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31196983
131Vibrio cholerae infection_Homo sapiens_hsa051100.31114440
132Notch signaling pathway_Homo sapiens_hsa043300.31072658
133Fanconi anemia pathway_Homo sapiens_hsa034600.30024263
134Glycosaminoglycan degradation_Homo sapiens_hsa005310.29381077

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