PCDH1

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 belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)5.63356202
2hemidesmosome assembly (GO:0031581)5.42767368
3bundle of His cell to Purkinje myocyte communication (GO:0086069)5.27436356
4locomotory exploration behavior (GO:0035641)4.51684282
5synaptic vesicle maturation (GO:0016188)4.49765567
6regulation of short-term neuronal synaptic plasticity (GO:0048172)4.36185576
7gap junction assembly (GO:0016264)4.29388954
8semaphorin-plexin signaling pathway (GO:0071526)4.12091393
9planar cell polarity pathway involved in neural tube closure (GO:0090179)4.03405816
10epithelial cell-cell adhesion (GO:0090136)4.00354657
11regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.96911141
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.95565529
13branching involved in salivary gland morphogenesis (GO:0060445)3.88390809
14vocalization behavior (GO:0071625)3.87562612
15endothelium development (GO:0003158)3.87360990
16glutamate secretion (GO:0014047)3.78827487
17cell-substrate junction assembly (GO:0007044)3.78430254
18positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.77663270
19negative regulation of cell fate specification (GO:0009996)3.73498260
20regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.68971155
21synaptic vesicle docking involved in exocytosis (GO:0016081)3.67609495
22adherens junction assembly (GO:0034333)3.64932900
23regulation of cell fate specification (GO:0042659)3.55874976
24regulation of posttranscriptional gene silencing (GO:0060147)3.54577362
25regulation of gene silencing by miRNA (GO:0060964)3.54577362
26regulation of gene silencing by RNA (GO:0060966)3.54577362
27regulation of water loss via skin (GO:0033561)3.54410690
28paraxial mesoderm development (GO:0048339)3.48826020
29regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.45315951
30multicellular organismal water homeostasis (GO:0050891)3.40282808
31L-phenylalanine catabolic process (GO:0006559)3.39367488
32erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.39367488
33regulation of glutamate receptor signaling pathway (GO:1900449)3.38453023
34cell-substrate adherens junction assembly (GO:0007045)3.36436039
35focal adhesion assembly (GO:0048041)3.36436039
36layer formation in cerebral cortex (GO:0021819)3.31654218
37sodium ion export (GO:0071436)3.28650529
38cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.27281039
39regulation of neuronal synaptic plasticity (GO:0048168)3.25110683
40dicarboxylic acid biosynthetic process (GO:0043650)3.22703255
41protein complex localization (GO:0031503)3.21717767
42L-phenylalanine metabolic process (GO:0006558)3.21706255
43erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.21706255
44neurotransmitter-gated ion channel clustering (GO:0072578)3.21398020
45triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.20372818
46exploration behavior (GO:0035640)3.20039303
47synaptic vesicle exocytosis (GO:0016079)3.20013834
48endothelial cell morphogenesis (GO:0001886)3.19447129
49gamma-aminobutyric acid transport (GO:0015812)3.18095225
50drug catabolic process (GO:0042737)3.17969143
51glomerular visceral epithelial cell development (GO:0072015)3.16420719
52neurotransmitter secretion (GO:0007269)3.14260028
53alpha-linolenic acid metabolic process (GO:0036109)3.11253588
54exogenous drug catabolic process (GO:0042738)3.11239020
55regulation of long-term neuronal synaptic plasticity (GO:0048169)3.10125213
56peptidyl-tyrosine autophosphorylation (GO:0038083)3.09913728
57glomerular epithelial cell development (GO:0072310)3.09302647
58regulation of synaptic vesicle exocytosis (GO:2000300)3.09255816
59apical protein localization (GO:0045176)3.08093300
60establishment of skin barrier (GO:0061436)3.06690737
61cellular potassium ion homeostasis (GO:0030007)3.05899589
62regulation of synapse structural plasticity (GO:0051823)3.04324620
63lymphangiogenesis (GO:0001946)3.03954430
64negative regulation of chondrocyte differentiation (GO:0032331)3.02812837
65dendritic spine morphogenesis (GO:0060997)3.02694521
66L-alpha-amino acid transmembrane transport (GO:1902475)3.02587584
67cell communication by electrical coupling (GO:0010644)3.02429442
68proline transport (GO:0015824)3.02379816
69establishment of apical/basal cell polarity (GO:0035089)3.01230164
70glutamate metabolic process (GO:0006536)2.99391596
71surfactant homeostasis (GO:0043129)2.99058635
72activation of protein kinase A activity (GO:0034199)2.94627599
73urea metabolic process (GO:0019627)2.93442256
74urea cycle (GO:0000050)2.93442256
75alanine transport (GO:0032328)2.93019589
76activation of Rac GTPase activity (GO:0032863)2.92083231
77aromatic amino acid family catabolic process (GO:0009074)2.89963872
78negative regulation of cell fate commitment (GO:0010454)2.89427253
79dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.87785431
80retina vasculature morphogenesis in camera-type eye (GO:0061299)2.87694486
81calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.84739716
82cell-cell junction assembly (GO:0007043)2.84053314
83bile acid biosynthetic process (GO:0006699)2.83994858
84regulation of cholesterol homeostasis (GO:2000188)2.83180121
85convergent extension (GO:0060026)2.83169182
86kynurenine metabolic process (GO:0070189)2.82706031
87negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.81228292
88ionotropic glutamate receptor signaling pathway (GO:0035235)2.81069448
89regulation of synaptic vesicle transport (GO:1902803)2.79271015
90high-density lipoprotein particle remodeling (GO:0034375)2.78705140
91protein localization to synapse (GO:0035418)2.77625281
92renal filtration (GO:0097205)2.77369335
93cellular protein complex localization (GO:0034629)2.77090722
94negative regulation of keratinocyte proliferation (GO:0010839)2.75343441
95cell communication involved in cardiac conduction (GO:0086065)2.74791459
96establishment or maintenance of apical/basal cell polarity (GO:0035088)2.74089017
97establishment or maintenance of bipolar cell polarity (GO:0061245)2.74089017
98neural tube development (GO:0021915)2.73414851
99protein retention in ER lumen (GO:0006621)2.71493129
100maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.71185698
101establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.70268495
102negative regulation of fibrinolysis (GO:0051918)2.69304408
103lysine metabolic process (GO:0006553)2.68707222
104lysine catabolic process (GO:0006554)2.68707222
105chemical homeostasis within a tissue (GO:0048875)2.66284023
106cell junction assembly (GO:0034329)2.66186177
107renal system process involved in regulation of blood volume (GO:0001977)2.65667012
108adherens junction organization (GO:0034332)2.65264749
109cellular sodium ion homeostasis (GO:0006883)2.64484186
110water homeostasis (GO:0030104)2.63533664
111Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.63174869
112nitrogen cycle metabolic process (GO:0071941)2.61912481
113protein localization to endosome (GO:0036010)2.61539921
114neuromuscular process controlling balance (GO:0050885)2.61449139
115epithelial cell differentiation involved in prostate gland development (GO:0060742)2.60357312
116sulfur amino acid catabolic process (GO:0000098)2.59166034
117cellular ketone body metabolic process (GO:0046950)2.59145411
118reverse cholesterol transport (GO:0043691)2.59101425
119notochord development (GO:0030903)2.56687703
120cysteine metabolic process (GO:0006534)2.56546044
121hippo signaling (GO:0035329)2.56336906
122cell-cell junction maintenance (GO:0045217)2.56179989
123regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.55809858
124endothelial cell chemotaxis (GO:0035767)2.55717572
125basement membrane organization (GO:0071711)2.55676207
126regulation of ARF protein signal transduction (GO:0032012)2.54758627
127cell junction organization (GO:0034330)2.54114579
128synaptic transmission, glutamatergic (GO:0035249)2.53895351
129regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.52535630
130regulation of dendritic spine morphogenesis (GO:0061001)2.52532604
131vascular endothelial growth factor signaling pathway (GO:0038084)2.52468778
132tight junction assembly (GO:0070830)2.50527280
133long-term memory (GO:0007616)2.50382966
134glyoxylate metabolic process (GO:0046487)2.50231370
135positive regulation of membrane potential (GO:0045838)2.49858595
136negative regulation of sterol transport (GO:0032372)2.49226761
137negative regulation of cholesterol transport (GO:0032375)2.49226761
138indole-containing compound catabolic process (GO:0042436)2.48913676
139indolalkylamine catabolic process (GO:0046218)2.48913676
140tryptophan catabolic process (GO:0006569)2.48913676
141membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.48634180
142regulation of establishment of planar polarity (GO:0090175)2.48311638
143cellular modified amino acid catabolic process (GO:0042219)2.47612247
144ear development (GO:0043583)2.47597308
145atrioventricular valve morphogenesis (GO:0003181)2.47162473
146positive regulation of synapse maturation (GO:0090129)2.45843037
147complement activation, alternative pathway (GO:0006957)2.45582457
148asymmetric protein localization (GO:0008105)2.45581078
149cell-cell junction organization (GO:0045216)2.45424480
150glycine transport (GO:0015816)2.45377362
151bile acid metabolic process (GO:0008206)2.44826175
152regulation of fibrinolysis (GO:0051917)2.44728146
153regulation of protein activation cascade (GO:2000257)2.44549006
154non-canonical Wnt signaling pathway (GO:0035567)2.44454300
155negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.44097942
156dendrite morphogenesis (GO:0048813)2.44083152
157positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.42895894
158positive regulation of SMAD protein import into nucleus (GO:0060391)2.42640389
159regulation of synaptic plasticity (GO:0048167)2.42457292
160heterochromatin organization (GO:0070828)2.41713273
161glomerular filtration (GO:0003094)2.41516997
162pre-miRNA processing (GO:0031054)2.41170425
163regulation of excitatory postsynaptic membrane potential (GO:0060079)2.40637588
164cell surface receptor signaling pathway involved in heart development (GO:0061311)2.40574707
165cytoskeletal anchoring at plasma membrane (GO:0007016)2.40225921
166regulation of catenin import into nucleus (GO:0035412)2.39069940
167negative regulation of focal adhesion assembly (GO:0051895)2.38627055
168negative regulation of cell junction assembly (GO:1901889)2.38627055
169negative regulation of adherens junction organization (GO:1903392)2.38627055
170neurotransmitter transport (GO:0006836)2.38342680
171regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.37722032
172COPI coating of Golgi vesicle (GO:0048205)2.37463017
173Golgi transport vesicle coating (GO:0048200)2.37463017
174neuron cell-cell adhesion (GO:0007158)2.36796504
175regulation of cardioblast differentiation (GO:0051890)2.36492599
176lung-associated mesenchyme development (GO:0060484)2.35992753
177regulation of neurotransmitter levels (GO:0001505)2.35899378
178regulation of glomerular filtration (GO:0003093)2.35547351
179branching involved in mammary gland duct morphogenesis (GO:0060444)2.35416378
180NADH metabolic process (GO:0006734)2.35321935
181neuron remodeling (GO:0016322)2.34977341
182glutamate receptor signaling pathway (GO:0007215)2.34463952
183protein-lipid complex remodeling (GO:0034368)2.34324160
184macromolecular complex remodeling (GO:0034367)2.34324160
185plasma lipoprotein particle remodeling (GO:0034369)2.34324160
186dicarboxylic acid catabolic process (GO:0043649)2.32945245
187chemosensory behavior (GO:0007635)2.31974113
188peptidyl-glutamic acid carboxylation (GO:0017187)2.31951557
189protein carboxylation (GO:0018214)2.31951557
190homocysteine metabolic process (GO:0050667)2.30200719
191regulation of triglyceride catabolic process (GO:0010896)2.29650638
192phosphate ion transmembrane transport (GO:0035435)2.29635361
193positive regulation of lipid catabolic process (GO:0050996)2.29208116

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.15092025
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.76701622
3EZH2_22144423_ChIP-Seq_EOC_Human3.47379521
4RXR_22158963_ChIP-Seq_LIVER_Mouse2.70499707
5ESR1_21235772_ChIP-Seq_MCF-7_Human2.51279757
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.40552023
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.35548836
8* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.35466852
9POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.32740033
10DROSHA_22980978_ChIP-Seq_HELA_Human2.32145073
11* LXR_22158963_ChIP-Seq_LIVER_Mouse2.31722683
12SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.26984225
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.26842840
14NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.25257713
15* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.21895906
16* PPARA_22158963_ChIP-Seq_LIVER_Mouse2.19981446
17* RACK7_27058665_Chip-Seq_MCF-7_Human2.19755459
18CLOCK_20551151_ChIP-Seq_293T_Human2.12080791
19* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.09496049
20* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.09496049
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.08599518
22* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.05924326
23* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.05363285
24NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.04821029
25* RARB_27405468_Chip-Seq_BRAIN_Mouse2.01442114
26* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.01032805
27* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.00396918
28* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.99576712
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.96801382
30PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.94066810
31ELK3_25401928_ChIP-Seq_HUVEC_Human1.88095543
32* FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.87019713
33* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.86723487
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.86120165
35* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.84458221
36* REST_21632747_ChIP-Seq_MESCs_Mouse1.84341286
37* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.83623552
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.83300033
39* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.78306929
40* EZH2_27294783_Chip-Seq_ESCs_Mouse1.76955314
41* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.76651690
42GBX2_23144817_ChIP-Seq_PC3_Human1.73598015
43NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.72706034
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.71153279
45KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.69420062
46KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.69420062
47KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.69420062
48PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.62710832
49TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.58326017
50* EZH2_27304074_Chip-Seq_ESCs_Mouse1.58104005
51* EED_16625203_ChIP-ChIP_MESCs_Mouse1.57921923
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.57165130
53* RNF2_27304074_Chip-Seq_ESCs_Mouse1.55696446
54* REST_18959480_ChIP-ChIP_MESCs_Mouse1.55291617
55UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.53005189
56STAT6_21828071_ChIP-Seq_BEAS2B_Human1.51951877
57* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.50830144
58TCF3_18692474_ChIP-Seq_MEFs_Mouse1.50307218
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.49256651
60* RUNX1_27514584_Chip-Seq_MCF-7_Human1.49119860
61* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.45002202
62KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.43504160
63SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.41997258
64P63_26484246_Chip-Seq_KERATINOCYTES_Human1.40580180
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.40031358
66* KDM2B_26808549_Chip-Seq_K562_Human1.38425884
67SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.35974824
68GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.33313175
69NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.33173096
70* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31905602
71ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.31816759
72* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.31403406
73ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.31270012
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.31253587
75ATF3_27146783_Chip-Seq_COLON_Human1.29048138
76IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25071049
77FOXA2_19822575_ChIP-Seq_HepG2_Human1.24517412
78WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24324540
79RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.23974902
80AR_21572438_ChIP-Seq_LNCaP_Human1.23927142
81CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.23362413
82KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.22809273
83* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.21803872
84TCF7_22412390_ChIP-Seq_EML_Mouse1.21252959
85SOX2_20726797_ChIP-Seq_SW620_Human1.20906141
86CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.20545690
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.19746424
88* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.19716461
89* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.19716461
90TCF3_18692474_ChIP-Seq_MESCs_Mouse1.18459456
91ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.17513227
92* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.17030943
93* KLF5_25053715_ChIP-Seq_YYC3_Human1.16957701
94ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.16690641
95NR3C1_23031785_ChIP-Seq_PC12_Mouse1.16161669
96ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15452889
97AR_21909140_ChIP-Seq_LNCAP_Human1.15378081
98ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.15071642
99EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.14813890
100BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.14621371
101RING1B_27294783_Chip-Seq_ESCs_Mouse1.14562502
102WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13669609
103* LXR_22292898_ChIP-Seq_THP-1_Human1.13559968
104NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.12459444
105PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.11376646
106* GATA6_25053715_ChIP-Seq_YYC3_Human1.09370734
107CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08997016
108PPAR_26484153_Chip-Seq_NCI-H1993_Human1.08254415
109ESR1_20079471_ChIP-ChIP_T-47D_Human1.07699873
110ZNF263_19887448_ChIP-Seq_K562_Human1.06362446
111* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06014132
112AHR_22903824_ChIP-Seq_MCF-7_Human1.05574525
113HIF1A_21447827_ChIP-Seq_MCF-7_Human1.05179196
114GATA2_21666600_ChIP-Seq_HMVEC_Human1.05100911
115CTCF_27219007_Chip-Seq_Bcells_Human1.04249012
116KAP1_27257070_Chip-Seq_ESCs_Mouse1.03566345
117SOX2_21211035_ChIP-Seq_LN229_Gbm1.03109260
118OCT4_18692474_ChIP-Seq_MEFs_Mouse1.02996096
119NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02450439
120KDM2B_26808549_Chip-Seq_SUP-B15_Human1.01557444
121SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.01305749
122SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.01279285
123TP63_22573176_ChIP-Seq_HFKS_Human1.01043794
124* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00968081
125* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.00501825
126KDM2B_26808549_Chip-Seq_DND41_Human1.00376952
127* AR_19668381_ChIP-Seq_PC3_Human0.99892108
128KLF4_18555785_ChIP-Seq_MESCs_Mouse0.99166541
129* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98855742
130* TBX20_22328084_ChIP-Seq_HEART_Mouse0.98845673
131* TBX20_22080862_ChIP-Seq_HEART_Mouse0.98845673
132* SMAD4_21741376_ChIP-Seq_HESCs_Human0.98442310
133ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.98071013
134SMAD4_21799915_ChIP-Seq_A2780_Human0.97768080
135POU5F1_16518401_ChIP-PET_MESCs_Mouse0.96766738
136ARNT_22903824_ChIP-Seq_MCF-7_Human0.96763177
137PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96711508
138SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.96590867
139TRIM28_21343339_ChIP-Seq_HEK293_Human0.96247576
140SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.95674952
141TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.94716731
142EP300_21415370_ChIP-Seq_HL-1_Mouse0.94113565
143RXR_22108803_ChIP-Seq_LS180_Human0.92820133
144SRY_22984422_ChIP-ChIP_TESTIS_Rat0.92763179
145* SMAD3_21741376_ChIP-Seq_HESCs_Human0.91377732
146* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.91173440
147* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.87765720
148ZNF274_21170338_ChIP-Seq_K562_Hela0.86868654
149* RING1B_27294783_Chip-Seq_NPCs_Mouse0.86036070
150TP53_16413492_ChIP-PET_HCT116_Human0.85412392
151SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84996563
152PIAS1_25552417_ChIP-Seq_VCAP_Human0.84644645
153CTBP2_25329375_ChIP-Seq_LNCAP_Human0.83227534
154PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.82634179
155CREB1_26743006_Chip-Seq_LNCaP_Human0.81761566
156KLF4_19829295_ChIP-Seq_ESCs_Human0.81471489
157* TET1_21490601_ChIP-Seq_MESCs_Mouse0.81266165
158CDX2_20551321_ChIP-Seq_CACO-2_Human0.81118484
159CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80692369
160ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80544194
161* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.79469865
162RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.79386997
163BCAT_22108803_ChIP-Seq_LS180_Human0.78836860
164AR_25329375_ChIP-Seq_VCAP_Human0.78624325
165RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78390939
166TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.77910621
167SMC4_20622854_ChIP-Seq_HELA_Human0.76607821
168STAT3_23295773_ChIP-Seq_U87_Human0.76486898

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.45101549
2MP0005360_urolithiasis4.31703302
3MP0002139_abnormal_hepatobiliary_system4.04296274
4MP0002254_reproductive_system_inflammat3.59416812
5MP0005085_abnormal_gallbladder_physiolo3.52210587
6MP0003941_abnormal_skin_development3.49152680
7MP0004272_abnormal_basement_membrane3.34508983
8MP0000566_synostosis3.04896920
9MP0000579_abnormal_nail_morphology3.04559955
10MP0005365_abnormal_bile_salt3.00728859
11MP0003635_abnormal_synaptic_transmissio2.93588418
12MP0003566_abnormal_cell_adhesion2.93478694
13MP0002822_catalepsy2.92375125
14MP0004270_analgesia2.89307035
15MP0001849_ear_inflammation2.80043935
16MP0004264_abnormal_extraembryonic_tissu2.76261681
17MP0008875_abnormal_xenobiotic_pharmacok2.69829487
18MP0000537_abnormal_urethra_morphology2.63390544
19MP0009780_abnormal_chondrocyte_physiolo2.56970607
20MP0010352_gastrointestinal_tract_polyps2.43505382
21MP0010030_abnormal_orbit_morphology2.37341162
22MP0005501_abnormal_skin_physiology2.32443980
23MP0002063_abnormal_learning/memory/cond2.30445312
24MP0003252_abnormal_bile_duct2.29786039
25MP0010329_abnormal_lipoprotein_level2.21865909
26MP0009745_abnormal_behavioral_response2.19492109
27MP0005409_darkened_coat_color2.18940692
28MP0004858_abnormal_nervous_system2.16825739
29MP0003880_abnormal_central_pattern2.12411083
30MP0003329_amyloid_beta_deposits2.00227266
31MP0010234_abnormal_vibrissa_follicle1.96674476
32MP0002064_seizures1.95656381
33MP0002909_abnormal_adrenal_gland1.95534718
34MP0005167_abnormal_blood-brain_barrier1.94803946
35MP0003453_abnormal_keratinocyte_physiol1.91199154
36MP0000467_abnormal_esophagus_morphology1.88241095
37MP0004782_abnormal_surfactant_physiolog1.87832000
38MP0000762_abnormal_tongue_morphology1.78646656
39MP0002098_abnormal_vibrissa_morphology1.76161737
40MP0002572_abnormal_emotion/affect_behav1.69537511
41MP0009672_abnormal_birth_weight1.60718526
42MP0001968_abnormal_touch/_nociception1.57687206
43MP0005076_abnormal_cell_differentiation1.56063030
44MP0001666_abnormal_nutrient_absorption1.56028928
45MP0002734_abnormal_mechanical_nocicepti1.54648848
46MP0009046_muscle_twitch1.53733707
47MP0010678_abnormal_skin_adnexa1.52185425
48MP0009840_abnormal_foam_cell1.49839008
49MP0001486_abnormal_startle_reflex1.49037455
50MP0003075_altered_response_to1.48169034
51MP0005332_abnormal_amino_acid1.47488329
52MP0005083_abnormal_biliary_tract1.47126458
53MP0003283_abnormal_digestive_organ1.45752892
54MP0008961_abnormal_basal_metabolism1.44490164
55MP0005423_abnormal_somatic_nervous1.44328401
56MP0001501_abnormal_sleep_pattern1.44153281
57MP0002272_abnormal_nervous_system1.40903959
58MP0000678_abnormal_parathyroid_gland1.40670607
59MP0002060_abnormal_skin_morphology1.39230337
60MP0002118_abnormal_lipid_homeostasis1.34710385
61MP0010368_abnormal_lymphatic_system1.33848168
62MP0001879_abnormal_lymphatic_vessel1.33117656
63MP0003705_abnormal_hypodermis_morpholog1.33058393
64MP0004885_abnormal_endolymph1.32974035
65MP0004185_abnormal_adipocyte_glucose1.32613119
66MP0001440_abnormal_grooming_behavior1.31804323
67MP0005623_abnormal_meninges_morphology1.29274013
68MP0005275_abnormal_skin_tensile1.28709000
69MP0003191_abnormal_cellular_cholesterol1.28428820
70MP0004130_abnormal_muscle_cell1.28279002
71MP0003633_abnormal_nervous_system1.26851005
72MP0003868_abnormal_feces_composition1.24809110
73MP0001216_abnormal_epidermal_layer1.23693312
74MP0000604_amyloidosis1.23246967
75MP0003195_calcinosis1.22682331
76MP0003879_abnormal_hair_cell1.22350417
77MP0000377_abnormal_hair_follicle1.21208277
78MP0010771_integument_phenotype1.19648402
79MP0002733_abnormal_thermal_nociception1.19405914
80MP0004811_abnormal_neuron_physiology1.17395154
81MP0008569_lethality_at_weaning1.17250719
82MP0002735_abnormal_chemical_nociception1.17081361
83MP0005670_abnormal_white_adipose1.16602377
84MP0001730_embryonic_growth_arrest1.13522765
85MP0003690_abnormal_glial_cell1.13339140
86MP0002697_abnormal_eye_size1.13225496
87MP0002089_abnormal_postnatal_growth/wei1.12745374
88MP0004043_abnormal_pH_regulation1.12117814
89MP0004019_abnormal_vitamin_homeostasis1.08409051
90MP0005023_abnormal_wound_healing1.05039532
91MP0002837_dystrophic_cardiac_calcinosis1.04253650
92MP0000751_myopathy1.02655994
93MP0002736_abnormal_nociception_after1.02640299
94MP0008874_decreased_physiological_sensi1.02484547
95MP0005666_abnormal_adipose_tissue1.01506442
96MP0001970_abnormal_pain_threshold1.00333224
97MP0000462_abnormal_digestive_system0.99717715
98MP0005584_abnormal_enzyme/coenzyme_acti0.98161634
99MP0003631_nervous_system_phenotype0.97812079
100MP0005535_abnormal_body_temperature0.97723717
101MP0002557_abnormal_social/conspecific_i0.95435433
102MP0003123_paternal_imprinting0.94807612
103MP0008872_abnormal_physiological_respon0.94166365
104MP0000955_abnormal_spinal_cord0.92979900
105MP0005187_abnormal_penis_morphology0.90336930
106MP0004924_abnormal_behavior0.90087826
107MP0005386_behavior/neurological_phenoty0.90087826
108MP0000383_abnormal_hair_follicle0.89799115
109MP0001177_atelectasis0.89376864
110MP0003984_embryonic_growth_retardation0.89329100
111MP0002138_abnormal_hepatobiliary_system0.89047593
112MP0002925_abnormal_cardiovascular_devel0.88750833
113MP0002085_abnormal_embryonic_tissue0.88505755
114MP0004085_abnormal_heartbeat0.88449667
115MP0003119_abnormal_digestive_system0.88024649
116MP0002086_abnormal_extraembryonic_tissu0.87996242
117MP0002067_abnormal_sensory_capabilities0.87676625
118MP0000778_abnormal_nervous_system0.87410611
119MP0002249_abnormal_larynx_morphology0.86431341
120MP0005380_embryogenesis_phenotype0.85666354
121MP0001672_abnormal_embryogenesis/_devel0.85666354
122MP0003091_abnormal_cell_migration0.85373035
123MP0005257_abnormal_intraocular_pressure0.84858426
124MP0005375_adipose_tissue_phenotype0.84769531
125MP0002066_abnormal_motor_capabilities/c0.83893957
126MP0001502_abnormal_circadian_rhythm0.83531794
127MP0002088_abnormal_embryonic_growth/wei0.83472553
128MP0002184_abnormal_innervation0.83119376
129MP0000013_abnormal_adipose_tissue0.82935629
130MP0010630_abnormal_cardiac_muscle0.82687606
131MP0002069_abnormal_eating/drinking_beha0.82108306
132MP0002084_abnormal_developmental_patter0.81610193
133MP0000609_abnormal_liver_physiology0.80554350
134MP0001915_intracranial_hemorrhage0.80291967
135MP0000627_abnormal_mammary_gland0.79302109
136MP0003806_abnormal_nucleotide_metabolis0.79189321
137MP0005319_abnormal_enzyme/_coenzyme0.79161704
138MP0005377_hearing/vestibular/ear_phenot0.79103155
139MP0003878_abnormal_ear_physiology0.79103155
140MP0004957_abnormal_blastocyst_morpholog0.77791803
141MP0001299_abnormal_eye_distance/0.77651906
142MP0000477_abnormal_intestine_morphology0.77549301
143MP0002078_abnormal_glucose_homeostasis0.77534974
144MP0009053_abnormal_anal_canal0.76424140
145MP0003045_fibrosis0.76357374
146MP0005166_decreased_susceptibility_to0.76116605
147MP0000003_abnormal_adipose_tissue0.75377947
148MP0005646_abnormal_pituitary_gland0.75153296
149MP0000767_abnormal_smooth_muscle0.74787346
150MP0002090_abnormal_vision0.74208507
151MP0001765_abnormal_ion_homeostasis0.73290623
152MP0002882_abnormal_neuron_morphology0.72880938
153MP0000432_abnormal_head_morphology0.72221288
154MP0005595_abnormal_vascular_smooth0.71955832
155MP0006138_congestive_heart_failure0.71875319
156MP0002111_abnormal_tail_morphology0.71651656
157MP0001614_abnormal_blood_vessel0.71583933
158MP0000428_abnormal_craniofacial_morphol0.71518855
159MP0009703_decreased_birth_body0.69996373
160MP0009931_abnormal_skin_appearance0.69091929
161MP0003890_abnormal_embryonic-extraembry0.69013959
162MP0005165_increased_susceptibility_to0.68599254
163MP0003632_abnormal_nervous_system0.66322400
164MP0001346_abnormal_lacrimal_gland0.65915061
165MP0009379_abnormal_foot_pigmentation0.65520472
166MP0005448_abnormal_energy_balance0.65254913
167MP0003935_abnormal_craniofacial_develop0.64593327
168MP0002080_prenatal_lethality0.64148815
169MP0000230_abnormal_systemic_arterial0.64009370
170MP0003115_abnormal_respiratory_system0.63496819
171MP0003861_abnormal_nervous_system0.63188362
172MP0004215_abnormal_myocardial_fiber0.63118670
173MP0001756_abnormal_urination0.62094775
174MP0002896_abnormal_bone_mineralization0.62047934
175MP0004133_heterotaxia0.60483848
176MP0001664_abnormal_digestion0.59587610
177MP0001188_hyperpigmentation0.59412285
178MP0001340_abnormal_eyelid_morphology0.58346061
179MP0003953_abnormal_hormone_level0.58042376
180MP0002796_impaired_skin_barrier0.57658043
181MP0004233_abnormal_muscle_weight0.57631775
182MP0003693_abnormal_embryo_hatching0.57389766
183MP0004484_altered_response_of0.57010628

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.03306138
2Deep venous thrombosis (HP:0002625)4.47689630
3Focal motor seizures (HP:0011153)4.10061715
4Intrahepatic cholestasis (HP:0001406)3.73091521
5Xanthomatosis (HP:0000991)3.57121790
6Abnormality of aromatic amino acid family metabolism (HP:0004338)3.40239842
7Focal seizures (HP:0007359)3.38521698
8Fragile nails (HP:0001808)3.38229020
9Abnormality of monocarboxylic acid metabolism (HP:0010996)3.35863089
10Shallow orbits (HP:0000586)3.35683512
11Selective tooth agenesis (HP:0001592)3.27236086
12Action tremor (HP:0002345)3.24644675
13Pili torti (HP:0003777)3.19814316
14Visual hallucinations (HP:0002367)3.17164562
15Hyperactive renin-angiotensin system (HP:0000841)3.09807062
16Abnormality of the lower motor neuron (HP:0002366)3.09391100
17Hyperlipoproteinemia (HP:0010980)2.97563200
18Complement deficiency (HP:0004431)2.90998273
19Milia (HP:0001056)2.81642352
20Hypobetalipoproteinemia (HP:0003563)2.81116534
21Epidermoid cyst (HP:0200040)2.79545366
22Abnormality of the salivary glands (HP:0010286)2.77521620
23Hyperacusis (HP:0010780)2.76591902
24Aplasia involving bones of the upper limbs (HP:0009823)2.72549419
25Aplasia of the phalanges of the hand (HP:0009802)2.72549419
26Aplasia involving bones of the extremities (HP:0009825)2.72549419
27Pterygium (HP:0001059)2.71717146
28Ketosis (HP:0001946)2.67013917
29Torticollis (HP:0000473)2.66894084
30Abnormality of nail color (HP:0100643)2.63267413
31Broad face (HP:0000283)2.63240684
32Lower limb amyotrophy (HP:0007210)2.62906357
33Abnormal social behavior (HP:0012433)2.62055235
34Impaired social interactions (HP:0000735)2.62055235
35Skull defect (HP:0001362)2.61916825
36Abnormality of glutamine family amino acid metabolism (HP:0010902)2.61098852
37Postural instability (HP:0002172)2.60725408
38Flat acetabular roof (HP:0003180)2.59308879
39Distal lower limb muscle weakness (HP:0009053)2.59110110
40Prolonged partial thromboplastin time (HP:0003645)2.58318441
41Impaired vibration sensation in the lower limbs (HP:0002166)2.57993586
42Ventricular fibrillation (HP:0001663)2.56523364
43Plantar hyperkeratosis (HP:0007556)2.55348003
44Chronic bronchitis (HP:0004469)2.54999197
45Broad metatarsal (HP:0001783)2.53912361
46Obstructive sleep apnea (HP:0002870)2.53019264
47Distal lower limb amyotrophy (HP:0008944)2.52847684
48Abnormality of the distal phalanx of the thumb (HP:0009617)2.52000410
49Atrophic scars (HP:0001075)2.49942257
50Focal dystonia (HP:0004373)2.48294634
51Cerebral inclusion bodies (HP:0100314)2.47775266
52Generalized tonic-clonic seizures (HP:0002069)2.47292992
53Poor eye contact (HP:0000817)2.46751526
54Supranuclear gaze palsy (HP:0000605)2.46582422
55Gout (HP:0001997)2.45118163
56Ketoacidosis (HP:0001993)2.45052808
57Vertebral clefting (HP:0008428)2.43915766
58Ankyloglossia (HP:0010296)2.42768947
59Neurofibrillary tangles (HP:0002185)2.41878862
60Hyperammonemia (HP:0001987)2.41764912
61Progressive cerebellar ataxia (HP:0002073)2.40879807
62Hypoalphalipoproteinemia (HP:0003233)2.40699913
63Status epilepticus (HP:0002133)2.39524515
64Advanced eruption of teeth (HP:0006288)2.39040520
65Depression (HP:0000716)2.38828429
66Hypolipoproteinemia (HP:0010981)2.38624221
67Absent eyelashes (HP:0000561)2.37339428
68Esophageal varix (HP:0002040)2.37086296
69Hemiplegia (HP:0002301)2.36985069
70Onycholysis (HP:0001806)2.33749845
71Intention tremor (HP:0002080)2.31685934
72Epileptic encephalopathy (HP:0200134)2.30966433
73Distal upper limb amyotrophy (HP:0007149)2.30557838
74Upper limb amyotrophy (HP:0009129)2.30557838
75Craniofacial dystonia (HP:0012179)2.28207779
76Bundle branch block (HP:0011710)2.26764604
77Absence seizures (HP:0002121)2.26732209
78Dysdiadochokinesis (HP:0002075)2.25740641
79Neonatal onset (HP:0003623)2.25132919
80Ankle clonus (HP:0011448)2.23753402
81Choanal stenosis (HP:0000452)2.23215372
82Delayed CNS myelination (HP:0002188)2.23197451
83Hypoglycemic coma (HP:0001325)2.20229403
84Trismus (HP:0000211)2.19774393
85Hyperventilation (HP:0002883)2.19557751
86Anxiety (HP:0000739)2.18667219
87Abnormality of the common coagulation pathway (HP:0010990)2.18235239
88Urinary bladder sphincter dysfunction (HP:0002839)2.17927152
89Increased connective tissue (HP:0009025)2.15017145
90Dysmetria (HP:0001310)2.14257907
91Protrusio acetabuli (HP:0003179)2.14248806
92Abnormality of the Achilles tendon (HP:0005109)2.14134161
93Dysmetric saccades (HP:0000641)2.13549885
94Abnormal hair laboratory examination (HP:0003328)2.11465917
95Hyperglycinemia (HP:0002154)2.09036879
96Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.06908897
97Abnormal vertebral ossification (HP:0100569)2.04616818
98Skin nodule (HP:0200036)2.04151641
99Cerebral aneurysm (HP:0004944)2.02292538
100Hypoplasia of dental enamel (HP:0006297)2.00993793
101Arnold-Chiari malformation (HP:0002308)2.00790220
102Hemangiomatosis (HP:0007461)2.00658209
103Arterial tortuosity (HP:0005116)2.00046064
104Fragile skin (HP:0001030)1.99333052
105Hyperglycinuria (HP:0003108)1.98461969
106Genetic anticipation (HP:0003743)1.98044788
107Coronal craniosynostosis (HP:0004440)1.97060137
108Polycythemia (HP:0001901)1.96948011
109Turricephaly (HP:0000262)1.96800332
110Hypercholesterolemia (HP:0003124)1.95814389
111Papilledema (HP:0001085)1.95463009
112Taurodontia (HP:0000679)1.94102796
113Abnormality of permanent molar morphology (HP:0011071)1.94102796
114Abnormality of the dental root (HP:0006486)1.94102796
115Dialeptic seizures (HP:0011146)1.93995443
116Cholecystitis (HP:0001082)1.93737593
117Abnormal gallbladder physiology (HP:0012438)1.93737593
118Abnormality of glycine metabolism (HP:0010895)1.93194068
119Abnormality of serine family amino acid metabolism (HP:0010894)1.93194068
120Difficulty climbing stairs (HP:0003551)1.93054433
121Right ventricular cardiomyopathy (HP:0011663)1.92620351
122Megalencephaly (HP:0001355)1.92083463
123Atonic seizures (HP:0010819)1.91853761
124Abnormal eating behavior (HP:0100738)1.91607478
125Amblyopia (HP:0000646)1.91321959
126Spastic diplegia (HP:0001264)1.90978115
127Hypotrichosis (HP:0001006)1.89427815
128Impaired vibratory sensation (HP:0002495)1.89355280
129Abnormality of complement system (HP:0005339)1.88925242
130Hemorrhage of the eye (HP:0011885)1.88824369
131Sensorimotor neuropathy (HP:0007141)1.88220424
132Abnormality of sulfur amino acid metabolism (HP:0004339)1.88077005
133Thick nail (HP:0001805)1.87823410
134Visceral angiomatosis (HP:0100761)1.86296588
135Epileptiform EEG discharges (HP:0011182)1.86134949
136Abnormality of the gastric mucosa (HP:0004295)1.86026077
137Fat malabsorption (HP:0002630)1.85897381
138Lymphangioma (HP:0100764)1.85232733
139EEG with generalized epileptiform discharges (HP:0011198)1.84601598
140Cerebral hemorrhage (HP:0001342)1.84600232
141Partial duplication of thumb phalanx (HP:0009944)1.83967605
142Tetraplegia (HP:0002445)1.83917992
143Hypsarrhythmia (HP:0002521)1.83426035
144Abnormality of oral frenula (HP:0000190)1.83424846
145Pheochromocytoma (HP:0002666)1.83111591
146Syncope (HP:0001279)1.83058792
147Aplasia cutis congenita (HP:0001057)1.82815696
148Urinary urgency (HP:0000012)1.81952859
149Ventricular tachycardia (HP:0004756)1.81789957
150Spinal cord compression (HP:0002176)1.80984970
151Sudden death (HP:0001699)1.80808881
152Abnormality of molar (HP:0011077)1.80290983
153Abnormality of molar morphology (HP:0011070)1.80290983
154Insomnia (HP:0100785)1.79646920
155Achilles tendon contracture (HP:0001771)1.79606938
156Insidious onset (HP:0003587)1.79440815
157Termporal pattern (HP:0011008)1.79440815
158Palmoplantar hyperkeratosis (HP:0000972)1.78605955
159Bronchomalacia (HP:0002780)1.78570969
160Neonatal death (HP:0003811)1.78542713
161Abnormality of the intrinsic pathway (HP:0010989)1.78497763
162Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.77405970
163Conjugated hyperbilirubinemia (HP:0002908)1.77192420
164Hypoglycemic seizures (HP:0002173)1.76756819
165Potter facies (HP:0002009)1.76428522
166Abnormality of the dental pulp (HP:0006479)1.73590254
167Urethral obstruction (HP:0000796)1.73367766
168Hyperkalemia (HP:0002153)1.73189868
169Natal tooth (HP:0000695)1.73167673
170Overriding aorta (HP:0002623)1.72944350
171Nail dystrophy (HP:0008404)1.72465140
172Centrally nucleated skeletal muscle fibers (HP:0003687)1.71561046
173Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.70317894
174Polygenic inheritance (HP:0010982)1.70078739
175Short nail (HP:0001799)1.68626016
176Hand muscle atrophy (HP:0009130)1.68381439
177Premature rupture of membranes (HP:0001788)1.68309597
178Germ cell neoplasia (HP:0100728)1.67671888
179Palmar hyperkeratosis (HP:0010765)1.67599505
180Alopecia of scalp (HP:0002293)1.67255905
181Back pain (HP:0003418)1.67085711
182Abnormality of renin-angiotensin system (HP:0000847)1.66974734
183Spinal rigidity (HP:0003306)1.66713200
184Mildly elevated creatine phosphokinase (HP:0008180)1.64053819
185Focal segmental glomerulosclerosis (HP:0000097)1.63780864
186Stroke (HP:0001297)1.62624606
187Ulnar bowing (HP:0003031)1.58943023
188Acanthosis nigricans (HP:0000956)1.58674345
189Vascular tortuosity (HP:0004948)1.58043866
190Split hand (HP:0001171)1.57307809

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA26.21783302
2EPHA43.72517315
3MAP3K93.54088082
4NTRK33.40140742
5MET2.98630327
6PRKD32.80179717
7SMG12.77984962
8DAPK22.72798305
9KSR22.54669542
10EEF2K2.41650421
11MARK12.19141160
12NTRK12.18918976
13PAK62.10709818
14MAP3K42.07679242
15MINK12.07433873
16CAMKK11.98303683
17RIPK11.89699385
18MAP3K21.89568050
19MAP2K41.88605361
20PAK41.82770401
21CDK121.75760162
22MAP3K101.64928295
23TRIB31.59322658
24KDR1.56840858
25CAMK1D1.55227972
26STK381.50637924
27NTRK21.46180654
28LMTK21.44755722
29PRKG21.42661062
30TAOK11.39340528
31TIE11.30635216
32LATS21.30360315
33RET1.29762891
34CDK51.26926584
35KSR11.25436801
36MAP3K71.21442595
37SIK11.14981140
38DAPK11.14317298
39PKN21.13581459
40TTN1.13237164
41TYRO31.13151130
42PRKCH1.10991478
43EPHB11.10850356
44PHKG11.08372261
45PHKG21.08372261
46PAK31.07009462
47MAP2K71.04661435
48ERN11.03861290
49FER1.03365979
50CAMK11.01941746
51PDGFRA1.01552619
52MAP3K11.01191534
53PTK20.99270885
54MTOR0.95750720
55LATS10.95346769
56PRKCG0.95074958
57INSRR0.94356633
58PTK2B0.93514275
59PDPK10.93329786
60SGK30.93217032
61TTK0.89404140
62STK110.89053203
63ALK0.88375881
64RPS6KA20.87688387
65STK240.85546298
66PDK10.84803005
67MAP3K130.84502324
68MST1R0.84047121
69CAMK1G0.82507357
70SGK4940.82423704
71SGK2230.82423704
72SIK20.81247015
73TESK10.79417790
74GRK50.78940452
75NEK10.75653870
76CAMK2A0.75578358
77FGFR20.74868834
78PINK10.74491729
79FRK0.74041525
80MAP2K10.73619696
81DMPK0.73378986
82EPHB20.73296834
83FGFR40.72968282
84PTK60.72069585
85MARK20.71328964
86CAMK40.70603301
87PDGFRB0.70527548
88ERBB20.68084607
89ICK0.67737136
90SGK20.67200192
91PRPF4B0.66968347
92BCKDK0.65956250
93FGFR10.65481641
94PRKCZ0.65062799
95FES0.64695471
96TAOK30.61298811
97ARAF0.57817893
98WNK40.57083293
99RPS6KB20.56888640
100CDC42BPA0.55633469
101SGK10.55483338
102IRAK30.55255726
103UHMK10.54817235
104RIPK40.54374034
105CAMK2B0.53261560
106DDR20.51089232
107RPS6KA30.50848646
108CDK150.50050893
109NEK60.49187951
110SCYL20.49047867
111BMX0.47260077
112CDK180.47250083
113CAMKK20.46193829
114CDK140.46188874
115ERBB40.45962687
116TSSK60.44598884
117ROCK20.44479424
118RAF10.44021383
119TNIK0.43941253
120PRKD20.43646247
121FYN0.43477476
122PRKD10.43437005
123PRKACG0.43291518
124PRKAA10.42391699
125MAPK120.42344282
126TGFBR20.42334024
127CAMK2G0.42232078
128MAP3K60.42230936
129STK38L0.40866452
130PRKCI0.37291187
131SRC0.36527574
132NME10.36117461
133CASK0.35272659
134MAPKAPK30.35253364
135MAPK100.29535955
136MAP3K80.29435824
137TAF10.29063222
138MAP2K20.28327364
139EGFR0.27478563
140BRAF0.26967091
141MAP3K30.26150466
142OXSR10.25689196
143MAPK90.25646254
144AKT20.24926887
145RPS6KL10.22058995
146RPS6KC10.22058995
147STK390.21297391
148ROCK10.21031921
149CDK70.20723972

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.00411385
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.63608628
3Arginine biosynthesis_Homo sapiens_hsa002202.59577906
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.54743702
5Adherens junction_Homo sapiens_hsa045202.32331892
6Tight junction_Homo sapiens_hsa045302.14634439
7ECM-receptor interaction_Homo sapiens_hsa045122.12943219
8Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.10381582
9Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.03103908
10Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.95857886
11Bile secretion_Homo sapiens_hsa049761.92429037
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.71108393
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.65572929
14Notch signaling pathway_Homo sapiens_hsa043301.65403830
15Synaptic vesicle cycle_Homo sapiens_hsa047211.62867127
16Nicotine addiction_Homo sapiens_hsa050331.62173240
17Circadian entrainment_Homo sapiens_hsa047131.58319975
18Thyroid cancer_Homo sapiens_hsa052161.56243408
19Butanoate metabolism_Homo sapiens_hsa006501.55572017
20GABAergic synapse_Homo sapiens_hsa047271.53001936
21Insulin secretion_Homo sapiens_hsa049111.47546294
22Salivary secretion_Homo sapiens_hsa049701.46802736
23Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.46622978
24Long-term potentiation_Homo sapiens_hsa047201.45942718
25Glutamatergic synapse_Homo sapiens_hsa047241.44088160
26Tryptophan metabolism_Homo sapiens_hsa003801.41001926
27Olfactory transduction_Homo sapiens_hsa047401.39759679
28Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.39637464
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.38956038
30Fatty acid degradation_Homo sapiens_hsa000711.36226194
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.35596277
32Focal adhesion_Homo sapiens_hsa045101.33889261
33Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.32526599
34Amphetamine addiction_Homo sapiens_hsa050311.32384694
35Gastric acid secretion_Homo sapiens_hsa049711.29353644
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29133844
37Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.28021136
38Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.25645181
39Hippo signaling pathway_Homo sapiens_hsa043901.24904740
40Protein digestion and absorption_Homo sapiens_hsa049741.22809978
41Complement and coagulation cascades_Homo sapiens_hsa046101.21673727
42PPAR signaling pathway_Homo sapiens_hsa033201.20337505
43Vitamin digestion and absorption_Homo sapiens_hsa049771.20254355
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.17136238
45Morphine addiction_Homo sapiens_hsa050321.15423777
46Central carbon metabolism in cancer_Homo sapiens_hsa052301.13847952
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.11677629
48Galactose metabolism_Homo sapiens_hsa000521.11158321
49Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.08549561
50Vitamin B6 metabolism_Homo sapiens_hsa007501.08139910
51Arginine and proline metabolism_Homo sapiens_hsa003301.07919073
52Cholinergic synapse_Homo sapiens_hsa047251.07852220
53Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.07285202
54Type II diabetes mellitus_Homo sapiens_hsa049301.05594919
55Fatty acid metabolism_Homo sapiens_hsa012121.04876876
56Dopaminergic synapse_Homo sapiens_hsa047281.04617656
57Basal cell carcinoma_Homo sapiens_hsa052171.04192372
58Thyroid hormone signaling pathway_Homo sapiens_hsa049191.00921250
59Renin-angiotensin system_Homo sapiens_hsa046141.00711961
60Proteoglycans in cancer_Homo sapiens_hsa052050.98203597
61Renin secretion_Homo sapiens_hsa049240.96259672
62Fructose and mannose metabolism_Homo sapiens_hsa000510.91525847
63Fat digestion and absorption_Homo sapiens_hsa049750.90855927
64Rap1 signaling pathway_Homo sapiens_hsa040150.90614101
65MicroRNAs in cancer_Homo sapiens_hsa052060.89253430
66Endometrial cancer_Homo sapiens_hsa052130.89106638
67Cocaine addiction_Homo sapiens_hsa050300.88321915
68Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.87711217
69Oxytocin signaling pathway_Homo sapiens_hsa049210.87098246
70GnRH signaling pathway_Homo sapiens_hsa049120.87040216
71Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86516303
72Bladder cancer_Homo sapiens_hsa052190.84094752
73Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84051514
74Amoebiasis_Homo sapiens_hsa051460.82482364
75Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82096517
76Propanoate metabolism_Homo sapiens_hsa006400.81994490
77Calcium signaling pathway_Homo sapiens_hsa040200.81196481
78AMPK signaling pathway_Homo sapiens_hsa041520.80325684
79Regulation of actin cytoskeleton_Homo sapiens_hsa048100.79515702
80Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77961666
81Wnt signaling pathway_Homo sapiens_hsa043100.76799116
82Gap junction_Homo sapiens_hsa045400.76017910
83Thyroid hormone synthesis_Homo sapiens_hsa049180.75108344
84Starch and sucrose metabolism_Homo sapiens_hsa005000.73980089
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73575318
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.73555545
87Estrogen signaling pathway_Homo sapiens_hsa049150.73197599
88Long-term depression_Homo sapiens_hsa047300.73081518
89Glioma_Homo sapiens_hsa052140.72958854
90Vibrio cholerae infection_Homo sapiens_hsa051100.72856107
91Dorso-ventral axis formation_Homo sapiens_hsa043200.72292485
92Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.72188451
93cAMP signaling pathway_Homo sapiens_hsa040240.72048183
94Caffeine metabolism_Homo sapiens_hsa002320.71953640
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71763130
96Taste transduction_Homo sapiens_hsa047420.70846403
97Phenylalanine metabolism_Homo sapiens_hsa003600.70442232
98Mineral absorption_Homo sapiens_hsa049780.70319981
99Peroxisome_Homo sapiens_hsa041460.69632892
100beta-Alanine metabolism_Homo sapiens_hsa004100.69565464
101Small cell lung cancer_Homo sapiens_hsa052220.68055601
102Glucagon signaling pathway_Homo sapiens_hsa049220.68024258
103Sulfur metabolism_Homo sapiens_hsa009200.66446333
104Pancreatic secretion_Homo sapiens_hsa049720.66199656
105Lysine degradation_Homo sapiens_hsa003100.65627500
106Pentose and glucuronate interconversions_Homo sapiens_hsa000400.65548880
107Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.64745270
108ABC transporters_Homo sapiens_hsa020100.64523016
109Chemical carcinogenesis_Homo sapiens_hsa052040.62837815
110Prion diseases_Homo sapiens_hsa050200.62577878
111Histidine metabolism_Homo sapiens_hsa003400.61685990
112Chronic myeloid leukemia_Homo sapiens_hsa052200.61524258
113cGMP-PKG signaling pathway_Homo sapiens_hsa040220.61523678
114Pentose phosphate pathway_Homo sapiens_hsa000300.61089979
115Glycerolipid metabolism_Homo sapiens_hsa005610.60785701
116Melanogenesis_Homo sapiens_hsa049160.60719533
117Vascular smooth muscle contraction_Homo sapiens_hsa042700.60013604
118Fatty acid biosynthesis_Homo sapiens_hsa000610.59981172
119VEGF signaling pathway_Homo sapiens_hsa043700.59850329
120Cyanoamino acid metabolism_Homo sapiens_hsa004600.59568956
121Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.57797211
122Steroid hormone biosynthesis_Homo sapiens_hsa001400.57678925
123Axon guidance_Homo sapiens_hsa043600.57546939
124Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.57500067
125Pyruvate metabolism_Homo sapiens_hsa006200.55885459
126Biosynthesis of amino acids_Homo sapiens_hsa012300.55492301
127Dilated cardiomyopathy_Homo sapiens_hsa054140.55013069
128Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54812752
129Maturity onset diabetes of the young_Homo sapiens_hsa049500.54477337
130Choline metabolism in cancer_Homo sapiens_hsa052310.54109499
131Pathways in cancer_Homo sapiens_hsa052000.53687053
132Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53339041
133Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.52742356
134Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52203220
135Inositol phosphate metabolism_Homo sapiens_hsa005620.51964755
136Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51598311
137Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51567115
138Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51069804
139Carbon metabolism_Homo sapiens_hsa012000.50091536
140ErbB signaling pathway_Homo sapiens_hsa040120.49338122
141Insulin resistance_Homo sapiens_hsa049310.48775038
142Serotonergic synapse_Homo sapiens_hsa047260.48359456
143Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.47684966
144Phospholipase D signaling pathway_Homo sapiens_hsa040720.47569146
145Insulin signaling pathway_Homo sapiens_hsa049100.42730451
146Retinol metabolism_Homo sapiens_hsa008300.42650120
147Tyrosine metabolism_Homo sapiens_hsa003500.42548351
148Adipocytokine signaling pathway_Homo sapiens_hsa049200.42545427

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