OCRL

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





Description: This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1polyketide metabolic process (GO:0030638)6.11814440
2doxorubicin metabolic process (GO:0044598)6.11814440
3daunorubicin metabolic process (GO:0044597)6.11814440
4histone H4-K8 acetylation (GO:0043982)4.81337698
5histone H4-K5 acetylation (GO:0043981)4.81337698
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.80745667
7regulation of nuclear cell cycle DNA replication (GO:0033262)4.74127861
8synaptic vesicle maturation (GO:0016188)4.73638372
9histone H4-K12 acetylation (GO:0043983)4.48175402
10COPI coating of Golgi vesicle (GO:0048205)4.02070167
11Golgi transport vesicle coating (GO:0048200)4.02070167
12regulation of short-term neuronal synaptic plasticity (GO:0048172)3.99223049
13histone H4-K16 acetylation (GO:0043984)3.61655573
14aminoglycoside antibiotic metabolic process (GO:0030647)3.58745645
15response to dietary excess (GO:0002021)3.51555033
16paraxial mesoderm development (GO:0048339)3.43871791
17maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.42443890
18cytoskeletal anchoring at plasma membrane (GO:0007016)3.41990645
19protein retention in ER lumen (GO:0006621)3.41060713
20positive regulation of vesicle fusion (GO:0031340)3.40021661
21proline transport (GO:0015824)3.36935579
22regulation of vesicle fusion (GO:0031338)3.30250329
23innervation (GO:0060384)3.29928700
24cerebellar Purkinje cell differentiation (GO:0021702)3.29432076
25positive regulation of synaptic transmission, GABAergic (GO:0032230)3.25561327
26neuron cell-cell adhesion (GO:0007158)3.24598551
27locomotory exploration behavior (GO:0035641)3.21332620
28maintenance of protein location in nucleus (GO:0051457)3.20171487
29stress granule assembly (GO:0034063)3.13009355
30cell adhesion mediated by integrin (GO:0033627)3.10929241
31primitive streak formation (GO:0090009)3.08811004
32negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)3.07478454
33somite rostral/caudal axis specification (GO:0032525)3.05847435
34hemidesmosome assembly (GO:0031581)3.05842293
35synaptic vesicle exocytosis (GO:0016079)3.03778650
36phenol-containing compound catabolic process (GO:0019336)3.01472459
37positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.96911027
38retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.95516762
39negative regulation of telomerase activity (GO:0051974)2.94552458
40glutamate secretion (GO:0014047)2.94101357
41neuronal ion channel clustering (GO:0045161)2.92664045
42detection of calcium ion (GO:0005513)2.92471018
43axonal fasciculation (GO:0007413)2.90947514
44positive regulation of synapse maturation (GO:0090129)2.89704044
45desmosome organization (GO:0002934)2.88992706
46synaptic transmission, glutamatergic (GO:0035249)2.88945591
47regulation of mammary gland epithelial cell proliferation (GO:0033599)2.88931324
48regulation of synaptic vesicle exocytosis (GO:2000300)2.87874588
49regulation of calcium ion-dependent exocytosis (GO:0017158)2.86817873
50response to pheromone (GO:0019236)2.85531561
51synaptic vesicle docking involved in exocytosis (GO:0016081)2.82824789
52layer formation in cerebral cortex (GO:0021819)2.82788623
53COPII vesicle coating (GO:0048208)2.82580444
54regulation of neuronal synaptic plasticity (GO:0048168)2.81315759
55protein polyglutamylation (GO:0018095)2.79669576
56histone H3-K4 methylation (GO:0051568)2.79131827
57regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.77615217
58sodium ion export (GO:0071436)2.77169320
59regulation of synaptic vesicle transport (GO:1902803)2.76714153
60positive regulation of histone H3-K4 methylation (GO:0051571)2.76318299
61vesicle coating (GO:0006901)2.74553185
62neurotransmitter secretion (GO:0007269)2.73107319
63skin morphogenesis (GO:0043589)2.72850758
64insulin secretion (GO:0030073)2.72454755
65regulation of transforming growth factor beta2 production (GO:0032909)2.72342537
66ionotropic glutamate receptor signaling pathway (GO:0035235)2.71397611
67protein localization to synapse (GO:0035418)2.71220129
68epithelial cell-cell adhesion (GO:0090136)2.71047690
69striatum development (GO:0021756)2.70941286
70heparin biosynthetic process (GO:0030210)2.70732657
71heparin metabolic process (GO:0030202)2.70732657
72protein targeting to Golgi (GO:0000042)2.70572605
73presynaptic membrane organization (GO:0097090)2.70290209
74membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.68741613
75retrograde transport, vesicle recycling within Golgi (GO:0000301)2.67432124
76planar cell polarity pathway involved in neural tube closure (GO:0090179)2.65537880
77protein localization to microtubule (GO:0035372)2.65338994
78synaptic vesicle endocytosis (GO:0048488)2.64487071
79negative regulation of fatty acid transport (GO:2000192)2.64441946
80regulation of translation, ncRNA-mediated (GO:0045974)2.62610649
81negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.62610649
82negative regulation of translation, ncRNA-mediated (GO:0040033)2.62610649
83apical protein localization (GO:0045176)2.62215534
84regulation of synapse maturation (GO:0090128)2.60380542
85mating behavior (GO:0007617)2.58324136
86regulation of telomere maintenance (GO:0032204)2.57640183
87neuron recognition (GO:0008038)2.56756466
88regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.56589468
89macroautophagy (GO:0016236)2.56520816
90cell-substrate junction assembly (GO:0007044)2.54954287
91chemosensory behavior (GO:0007635)2.54451206
92startle response (GO:0001964)2.53368780
93nuclear pore complex assembly (GO:0051292)2.52943668
94regulation of glutamate receptor signaling pathway (GO:1900449)2.52596433
95adherens junction assembly (GO:0034333)2.51801481
96vocalization behavior (GO:0071625)2.51541262
97regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.51351124
98inner ear receptor cell development (GO:0060119)2.50908985
99nuclear pore organization (GO:0006999)2.50653553
100axon extension (GO:0048675)2.50612497
101nerve growth factor signaling pathway (GO:0038180)2.50547271
102neurotransmitter transport (GO:0006836)2.49933771
103exploration behavior (GO:0035640)2.48288720
104glandular epithelial cell differentiation (GO:0002067)2.48124347
105catecholamine transport (GO:0051937)2.47242726
106pre-miRNA processing (GO:0031054)2.46323896
107signal transduction involved in regulation of gene expression (GO:0023019)2.46074166
108kidney mesenchyme development (GO:0072074)2.45730980
109regulation of early endosome to late endosome transport (GO:2000641)2.45427010
110regulation of timing of cell differentiation (GO:0048505)2.45397933
111rRNA methylation (GO:0031167)2.43983541
112regulation of cardioblast differentiation (GO:0051890)2.43273987
113glutamate receptor signaling pathway (GO:0007215)2.43263722
114hippo signaling (GO:0035329)2.42936879
115cAMP-mediated signaling (GO:0019933)2.42773802
116positive regulation of amino acid transport (GO:0051957)2.42422359
117regulation of long-term neuronal synaptic plasticity (GO:0048169)2.41745979
118neuron-neuron synaptic transmission (GO:0007270)2.41684896
119pharyngeal system development (GO:0060037)2.40478300
120cerebellar Purkinje cell layer development (GO:0021680)2.40160365
121neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.40096269
122basement membrane organization (GO:0071711)2.39872899
123metanephric mesenchyme development (GO:0072075)2.39647472
124cell-cell junction maintenance (GO:0045217)2.39553481
125protein localization to endosome (GO:0036010)2.39468143
126transmission of nerve impulse (GO:0019226)2.38586252
127melanosome transport (GO:0032402)2.37801023
128negative regulation of epidermis development (GO:0045683)2.37781640
129neuromuscular process controlling posture (GO:0050884)2.37400264
130cell communication by electrical coupling (GO:0010644)2.37378466
131cell-substrate adherens junction assembly (GO:0007045)2.36475298
132focal adhesion assembly (GO:0048041)2.36475298
133cellular potassium ion homeostasis (GO:0030007)2.35465935
134cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.34310961
135righting reflex (GO:0060013)2.33850071
136regulation of beta-amyloid formation (GO:1902003)2.33765035
137neuron projection extension (GO:1990138)2.33487048
138chondrocyte proliferation (GO:0035988)2.32692062
139GDP-mannose metabolic process (GO:0019673)2.32293723
140regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.31244300
141activation of protein kinase A activity (GO:0034199)2.30634316
142cell differentiation in hindbrain (GO:0021533)2.30271389
143suckling behavior (GO:0001967)2.30202091
144calcium-mediated signaling using intracellular calcium source (GO:0035584)2.30197248
145regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.28365372
146dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.26741947
147developmental cell growth (GO:0048588)2.26199891
148skeletal muscle organ development (GO:0060538)2.25049941
149bundle of His cell to Purkinje myocyte communication (GO:0086069)2.24571115
150diaphragm development (GO:0060539)2.23320034
151camera-type eye morphogenesis (GO:0048593)2.22878477
152regulation of NFAT protein import into nucleus (GO:0051532)2.22500726
153asymmetric protein localization (GO:0008105)2.22427592
154negative regulation of catenin import into nucleus (GO:0035414)2.22135425
155activation of Rac GTPase activity (GO:0032863)2.22063775
156embryonic foregut morphogenesis (GO:0048617)2.20708319
157notochord development (GO:0030903)2.20065720
158peptidyl-proline hydroxylation (GO:0019511)2.19132461
159regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)2.16617462
160positive regulation of dendritic spine morphogenesis (GO:0061003)2.15348358
161regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.14303856
162regulation of cAMP-dependent protein kinase activity (GO:2000479)2.14201139
163collagen fibril organization (GO:0030199)2.11308654
164activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.11264186
165insulin-like growth factor receptor signaling pathway (GO:0048009)2.10633826
166cellular copper ion homeostasis (GO:0006878)2.09968232
167cell communication involved in cardiac conduction (GO:0086065)2.08878353
168cell migration involved in sprouting angiogenesis (GO:0002042)2.08673467
169protein hydroxylation (GO:0018126)2.08066527
170semaphorin-plexin signaling pathway (GO:0071526)2.07832939
171regulation of glucose import in response to insulin stimulus (GO:2001273)2.07351715
172Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.06752355
173substrate-dependent cell migration (GO:0006929)2.04919754
174regulation of nucleobase-containing compound transport (GO:0032239)2.03475559
175positive regulation of nuclease activity (GO:0032075)2.03361873
176regulation of axon extension involved in axon guidance (GO:0048841)2.03070612
177gap junction assembly (GO:0016264)2.02084183
178body morphogenesis (GO:0010171)2.00969753
179cerebellar granule cell differentiation (GO:0021707)2.00948235
180regulation of establishment of planar polarity (GO:0090175)2.00672830
181cell junction maintenance (GO:0034331)1.99331763
182eye morphogenesis (GO:0048592)1.99164697
183cellular response to prostaglandin stimulus (GO:0071379)1.98795203
184endodermal cell differentiation (GO:0035987)1.97251013
185establishment or maintenance of bipolar cell polarity (GO:0061245)1.96803882
186establishment or maintenance of apical/basal cell polarity (GO:0035088)1.96803882
187neuron remodeling (GO:0016322)1.95945198
188positive regulation of hormone biosynthetic process (GO:0046886)1.95247074
189establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)1.93593813
190negative regulation of glycogen biosynthetic process (GO:0045719)1.91459843
191adherens junction organization (GO:0034332)1.91000926
192ectodermal placode formation (GO:0060788)1.90416166
193regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00431.89961349

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.07241552
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.62571752
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.62571752
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.62571752
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.30759997
6GBX2_23144817_ChIP-Seq_PC3_Human3.28370774
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.11176863
8CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.90346494
9CLOCK_20551151_ChIP-Seq_293T_Human2.66769728
10TP63_19390658_ChIP-ChIP_HaCaT_Human2.62533428
11IKZF1_21737484_ChIP-ChIP_HCT116_Human2.56165139
12TRIM28_21343339_ChIP-Seq_HEK293_Human2.53139449
13ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.51553742
14REST_21632747_ChIP-Seq_MESCs_Mouse2.43594323
15NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.39368919
16SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.30448031
17IGF1R_20145208_ChIP-Seq_DFB_Human2.23376879
18JARID2_20064375_ChIP-Seq_MESCs_Mouse2.20558101
19AR_21909140_ChIP-Seq_LNCAP_Human2.15637795
20ZNF263_19887448_ChIP-Seq_K562_Human2.15572651
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.13952009
22TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.07431456
23RARG_19884340_ChIP-ChIP_MEFs_Mouse2.06175756
24JARID2_20075857_ChIP-Seq_MESCs_Mouse2.05915118
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.01593081
26RNF2_18974828_ChIP-Seq_MESCs_Mouse1.96919059
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.96919059
28SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.95383316
29ESR2_21235772_ChIP-Seq_MCF-7_Human1.94697786
30WT1_19549856_ChIP-ChIP_CCG9911_Human1.91281296
31RNF2_27304074_Chip-Seq_ESCs_Mouse1.91142493
32PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.88880046
33SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.88860750
34SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.88514872
35PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.86127318
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.85665076
37SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.84568595
38RNF2_27304074_Chip-Seq_NSC_Mouse1.80671475
39SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.78330889
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.77846828
41RARB_27405468_Chip-Seq_BRAIN_Mouse1.74757111
42REST_18959480_ChIP-ChIP_MESCs_Mouse1.74278109
43BP1_19119308_ChIP-ChIP_Hs578T_Human1.72829598
44P300_27058665_Chip-Seq_ZR-75-30cells_Human1.70271719
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.70108244
46SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.69779845
47KDM2B_26808549_Chip-Seq_K562_Human1.68674020
48ESR1_15608294_ChIP-ChIP_MCF-7_Human1.67645988
49DROSHA_22980978_ChIP-Seq_HELA_Human1.65819313
50KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.64558689
51IRF1_19129219_ChIP-ChIP_H3396_Human1.62904210
52MTF2_20144788_ChIP-Seq_MESCs_Mouse1.59201538
53RBPJ_22232070_ChIP-Seq_NCS_Mouse1.55776227
54EED_16625203_ChIP-ChIP_MESCs_Mouse1.52279319
55EZH2_27294783_Chip-Seq_ESCs_Mouse1.50682383
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50110366
57RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.48786530
58RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.48077271
59POU5F1_16153702_ChIP-ChIP_HESCs_Human1.47276859
60HIF1A_21447827_ChIP-Seq_MCF-7_Human1.46481851
61EGR1_19374776_ChIP-ChIP_THP-1_Human1.46411621
62SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.46139697
63ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.45670507
64SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.45105224
65SUZ12_27294783_Chip-Seq_ESCs_Mouse1.42745176
66RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.40407510
67THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39617902
68EP300_21415370_ChIP-Seq_HL-1_Mouse1.38893775
69SMAD4_21799915_ChIP-Seq_A2780_Human1.38707539
70CDX2_19796622_ChIP-Seq_MESCs_Mouse1.38299490
71RACK7_27058665_Chip-Seq_MCF-7_Human1.38140037
72KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.37034833
73NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.37007391
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.33864552
75CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33836776
76SOX9_24532713_ChIP-Seq_HFSC_Mouse1.33624028
77ESR1_21235772_ChIP-Seq_MCF-7_Human1.32686931
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32153454
79ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.30112239
80CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.27806401
81POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.25524769
82STAT3_23295773_ChIP-Seq_U87_Human1.25516454
83TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.25087806
84NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.24902177
85RING1B_27294783_Chip-Seq_NPCs_Mouse1.23498428
86CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23370601
87SALL4_18804426_ChIP-ChIP_XEN_Mouse1.22944966
88CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22243544
89ZFP281_27345836_Chip-Seq_ESCs_Mouse1.21063292
90NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.19705834
91SMAD_19615063_ChIP-ChIP_OVARY_Human1.19649764
92P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18814389
93TET1_21490601_ChIP-Seq_MESCs_Mouse1.18436982
94FOXA2_19822575_ChIP-Seq_HepG2_Human1.18349452
95* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17984771
96KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.17847406
97E2F1_17053090_ChIP-ChIP_MCF-7_Human1.17670493
98AR_19668381_ChIP-Seq_PC3_Human1.16952111
99CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.16616565
100ISL1_27105846_Chip-Seq_CPCs_Mouse1.15901523
101ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15812489
102TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14927563
103CTBP2_25329375_ChIP-Seq_LNCAP_Human1.14892272
104ESR1_20079471_ChIP-ChIP_T-47D_Human1.14097739
105NFIB_24661679_ChIP-Seq_LUNG_Mouse1.13547961
106PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.13335386
107ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.12988765
108SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12368586
109SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12368586
110RING1B_27294783_Chip-Seq_ESCs_Mouse1.12362794
111NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12028571
112CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.11425919
113UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.09278488
114NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.08892577
115TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08825694
116NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08153182
117EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.07213794
118UBF1/2_26484160_Chip-Seq_HMECs_Human1.07014099
119SOX2_27498859_Chip-Seq_STOMACH_Mouse1.06396361
120ARNT_22903824_ChIP-Seq_MCF-7_Human1.04511166
121FOXO3_23340844_ChIP-Seq_DLD1_Human1.04494700
122MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04146171
123SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.03877912
124PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03664006
125NANOG_21062744_ChIP-ChIP_HESCs_Human1.02827317
126PIAS1_25552417_ChIP-Seq_VCAP_Human1.02329975
127ZFX_18555785_ChIP-Seq_MESCs_Mouse1.01834270
128SOX2_21211035_ChIP-Seq_LN229_Gbm1.01605535
129GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.01083788
130PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.01043246
131WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00898359
132YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00768762
133DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.99970810
134CBX2_27304074_Chip-Seq_ESCs_Mouse0.99773664
135CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.99462041
136SCL_19346495_ChIP-Seq_HPC-7_Human0.99377974
137ATF3_27146783_Chip-Seq_COLON_Human0.98970873
138RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.98842177
139NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.98506973
140TBX20_22328084_ChIP-Seq_HEART_Mouse0.98101891
141TBX20_22080862_ChIP-Seq_HEART_Mouse0.98101891
142P300_19829295_ChIP-Seq_ESCs_Human0.97749620
143WT1_25993318_ChIP-Seq_PODOCYTE_Human0.97356018
144AHR_22903824_ChIP-Seq_MCF-7_Human0.97142837
145CDX2_20551321_ChIP-Seq_CACO-2_Human0.97110442
146ERG_21242973_ChIP-ChIP_JURKAT_Human0.95742534
147TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95046739
148POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95046739
149OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94193548
150ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.93824905
151FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.93774160
152FUS_26573619_Chip-Seq_HEK293_Human0.93635545
153MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.92990023
154TCF4_23295773_ChIP-Seq_U87_Human0.91751765
155HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.91472110
156ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.91286957
157* TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.90286705
158ZNF217_24962896_ChIP-Seq_MCF-7_Human0.90200183
159TP53_20018659_ChIP-ChIP_R1E_Mouse0.89979472
160TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89710220
161CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.89705347
162* RUNX2_22187159_ChIP-Seq_PCA_Human0.89555905
163TCF3_18692474_ChIP-Seq_MESCs_Mouse0.88501345
164PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.86680822
165* SMAD3_21741376_ChIP-Seq_ESCs_Human0.84627063
166LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84308583

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode4.16468669
2MP0003122_maternal_imprinting3.42957371
3MP0003705_abnormal_hypodermis_morpholog3.40666532
4MP0003183_abnormal_peptide_metabolism3.31576440
5MP0008438_abnormal_cutaneous_collagen3.27077281
6MP0004859_abnormal_synaptic_plasticity3.13521308
7MP0003787_abnormal_imprinting2.87203191
8MP0005423_abnormal_somatic_nervous2.81360501
9MP0005645_abnormal_hypothalamus_physiol2.67584446
10MP0002909_abnormal_adrenal_gland2.52842169
11MP0004272_abnormal_basement_membrane2.49393695
12MP0000678_abnormal_parathyroid_gland2.43828868
13MP0004270_analgesia2.33155668
14MP0003121_genomic_imprinting2.28095308
15MP0001188_hyperpigmentation2.26305640
16MP0005623_abnormal_meninges_morphology2.24525053
17MP0003635_abnormal_synaptic_transmissio2.22569459
18MP0003566_abnormal_cell_adhesion2.18501941
19MP0010234_abnormal_vibrissa_follicle2.12442884
20MP0003880_abnormal_central_pattern2.12440617
21MP0010352_gastrointestinal_tract_polyps2.01868877
22MP0000013_abnormal_adipose_tissue2.00064888
23MP0006072_abnormal_retinal_apoptosis1.91080315
24MP0000537_abnormal_urethra_morphology1.89460082
25MP0002063_abnormal_learning/memory/cond1.87228842
26MP0004264_abnormal_extraembryonic_tissu1.85946089
27MP0005394_taste/olfaction_phenotype1.85625182
28MP0005499_abnormal_olfactory_system1.85625182
29MP0010368_abnormal_lymphatic_system1.85258216
30MP0004858_abnormal_nervous_system1.84281032
31MP0002572_abnormal_emotion/affect_behav1.82388033
32MP0009745_abnormal_behavioral_response1.75216354
33MP0003283_abnormal_digestive_organ1.73618165
34MP0004185_abnormal_adipocyte_glucose1.69608008
35MP0002734_abnormal_mechanical_nocicepti1.67321862
36MP0005379_endocrine/exocrine_gland_phen1.62650660
37MP0005257_abnormal_intraocular_pressure1.62265403
38MP0002184_abnormal_innervation1.61173852
39MP0003890_abnormal_embryonic-extraembry1.59965002
40MP0004233_abnormal_muscle_weight1.59679276
41MP0009046_muscle_twitch1.59628690
42MP0008961_abnormal_basal_metabolism1.59610809
43MP0002272_abnormal_nervous_system1.58905612
44MP0001486_abnormal_startle_reflex1.57758772
45MP0005076_abnormal_cell_differentiation1.56832013
46MP0000631_abnormal_neuroendocrine_gland1.56674176
47MP0002733_abnormal_thermal_nociception1.55442289
48MP0002064_seizures1.54570805
49MP0001299_abnormal_eye_distance/1.53196353
50MP0000534_abnormal_ureter_morphology1.52394297
51MP0006276_abnormal_autonomic_nervous1.51683798
52MP0000955_abnormal_spinal_cord1.49189544
53MP0002638_abnormal_pupillary_reflex1.48477873
54MP0005646_abnormal_pituitary_gland1.46021272
55MP0003942_abnormal_urinary_system1.45406528
56MP0001501_abnormal_sleep_pattern1.45041301
57MP0000462_abnormal_digestive_system1.42096077
58MP0005275_abnormal_skin_tensile1.39159064
59MP0002896_abnormal_bone_mineralization1.38888738
60MP0000566_synostosis1.38278484
61MP0003385_abnormal_body_wall1.38154909
62MP0000579_abnormal_nail_morphology1.37596845
63MP0005075_abnormal_melanosome_morpholog1.37215943
64MP0002557_abnormal_social/conspecific_i1.35196965
65MP0003119_abnormal_digestive_system1.34454181
66MP0000762_abnormal_tongue_morphology1.33875813
67MP0001970_abnormal_pain_threshold1.33104517
68MP0002938_white_spotting1.33095857
69MP0005253_abnormal_eye_physiology1.32320365
70MP0001502_abnormal_circadian_rhythm1.27796550
71MP0000569_abnormal_digit_pigmentation1.27491345
72MP0010386_abnormal_urinary_bladder1.26914058
73MP0002751_abnormal_autonomic_nervous1.26907757
74MP0009780_abnormal_chondrocyte_physiolo1.25970055
75MP0010030_abnormal_orbit_morphology1.25178188
76MP0005409_darkened_coat_color1.24256062
77MP0002653_abnormal_ependyma_morphology1.22109674
78MP0001986_abnormal_taste_sensitivity1.20948444
79MP0001440_abnormal_grooming_behavior1.18508605
80MP0003329_amyloid_beta_deposits1.18331372
81MP0002060_abnormal_skin_morphology1.17153832
82MP0000778_abnormal_nervous_system1.17147473
83MP0003172_abnormal_lysosome_physiology1.16751447
84MP0005375_adipose_tissue_phenotype1.14525384
85MP0003091_abnormal_cell_migration1.14441200
86MP0005551_abnormal_eye_electrophysiolog1.14287280
87MP0009053_abnormal_anal_canal1.13796281
88MP0001968_abnormal_touch/_nociception1.09930444
89MP0000751_myopathy1.08527785
90MP0005666_abnormal_adipose_tissue1.07431388
91MP0003115_abnormal_respiratory_system1.07256294
92MP0002735_abnormal_chemical_nociception1.06365288
93MP0000733_abnormal_muscle_development1.06123255
94MP0005058_abnormal_lysosome_morphology1.05985860
95MP0009384_cardiac_valve_regurgitation1.05707463
96MP0004043_abnormal_pH_regulation1.05529326
97MP0002882_abnormal_neuron_morphology1.05203113
98MP0002697_abnormal_eye_size1.04939455
99MP0004145_abnormal_muscle_electrophysio1.04743370
100MP0009672_abnormal_birth_weight1.01882238
101MP0002067_abnormal_sensory_capabilities1.00409902
102MP0003868_abnormal_feces_composition1.00034876
103MP0005503_abnormal_tendon_morphology0.99479345
104MP0004811_abnormal_neuron_physiology0.98398575
105MP0003123_paternal_imprinting0.97969664
106MP0001849_ear_inflammation0.97498241
107MP0002877_abnormal_melanocyte_morpholog0.95991275
108MP0008569_lethality_at_weaning0.94426032
109MP0002084_abnormal_developmental_patter0.93774557
110MP0002254_reproductive_system_inflammat0.93318780
111MP0008057_abnormal_DNA_replication0.92502091
112MP0003935_abnormal_craniofacial_develop0.92483709
113MP0002249_abnormal_larynx_morphology0.92294954
114MP0001984_abnormal_olfaction0.92198165
115MP0001270_distended_abdomen0.91417910
116MP0001661_extended_life_span0.91329546
117MP0003879_abnormal_hair_cell0.91273231
118MP0003634_abnormal_glial_cell0.90551810
119MP0009250_abnormal_appendicular_skeleto0.88896597
120MP0002693_abnormal_pancreas_physiology0.88035295
121MP0002822_catalepsy0.87972549
122MP0000428_abnormal_craniofacial_morphol0.87498094
123MP0005248_abnormal_Harderian_gland0.87400246
124MP0004142_abnormal_muscle_tone0.87317845
125MP0001958_emphysema0.87227392
126MP0008995_early_reproductive_senescence0.86669768
127MP0000003_abnormal_adipose_tissue0.86492761
128MP0003861_abnormal_nervous_system0.85436483
129MP0001944_abnormal_pancreas_morphology0.85083635
130MP0001730_embryonic_growth_arrest0.85017122
131MP0002752_abnormal_somatic_nervous0.84322787
132MP0002234_abnormal_pharynx_morphology0.83237796
133MP0000015_abnormal_ear_pigmentation0.83118350
134MP0003755_abnormal_palate_morphology0.81539353
135MP0002089_abnormal_postnatal_growth/wei0.81072540
136MP0000467_abnormal_esophagus_morphology0.81069494
137MP0003279_aneurysm0.80620835
138MP0003937_abnormal_limbs/digits/tail_de0.80561393
139MP0003315_abnormal_perineum_morphology0.80115985
140MP0002114_abnormal_axial_skeleton0.79782437
141MP0003950_abnormal_plasma_membrane0.79657958
142MP0005508_abnormal_skeleton_morphology0.79067110
143MP0005023_abnormal_wound_healing0.78496670
144MP0000767_abnormal_smooth_muscle0.77706166
145MP0000049_abnormal_middle_ear0.77701423
146MP0002796_impaired_skin_barrier0.77466314
147MP0008789_abnormal_olfactory_epithelium0.77197321
148MP0004133_heterotaxia0.77049983
149MP0002332_abnormal_exercise_endurance0.76666561
150MP0002229_neurodegeneration0.76276181
151MP0002295_abnormal_pulmonary_circulatio0.75747475
152MP0001915_intracranial_hemorrhage0.74754843
153MP0002085_abnormal_embryonic_tissue0.74317717
154MP0002139_abnormal_hepatobiliary_system0.74268362
155MP0003941_abnormal_skin_development0.73313183
156MP0005380_embryogenesis_phenotype0.73015781
157MP0001672_abnormal_embryogenesis/_devel0.73015781
158MP0003984_embryonic_growth_retardation0.73002080
159MP0001879_abnormal_lymphatic_vessel0.72717233
160MP0010630_abnormal_cardiac_muscle0.72483492
161MP0002116_abnormal_craniofacial_bone0.72266271
162MP0002066_abnormal_motor_capabilities/c0.72084130
163MP0002152_abnormal_brain_morphology0.71714215
164MP0002081_perinatal_lethality0.71504322
165MP0002269_muscular_atrophy0.70690960
166MP0002088_abnormal_embryonic_growth/wei0.70637680
167MP0004085_abnormal_heartbeat0.69944343
168MP0005386_behavior/neurological_phenoty0.69615915
169MP0004924_abnormal_behavior0.69615915
170MP0000432_abnormal_head_morphology0.69586597
171MP0008877_abnormal_DNA_methylation0.69509048
172MP0006138_congestive_heart_failure0.68946730
173MP0003453_abnormal_keratinocyte_physiol0.68847267
174MP0004087_abnormal_muscle_fiber0.68524846
175MP0003137_abnormal_impulse_conducting0.68523858
176MP0004885_abnormal_endolymph0.67783185
177MP0000613_abnormal_salivary_gland0.67749146

Predicted human phenotypes

RankGene SetZ-score
1Aplasia/Hypoplasia of the fovea (HP:0008060)4.14091789
2Hypoplasia of the fovea (HP:0007750)4.14091789
3Protrusio acetabuli (HP:0003179)4.03028868
4Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.02030402
5Premature rupture of membranes (HP:0001788)3.89975168
6Febrile seizures (HP:0002373)3.73352878
7Hepatoblastoma (HP:0002884)3.71731350
8Bilateral microphthalmos (HP:0007633)3.55633521
9Abnormality of the fovea (HP:0000493)3.55068088
10Epileptic encephalopathy (HP:0200134)3.18953964
11Hyperinsulinemic hypoglycemia (HP:0000825)3.01568166
12Focal motor seizures (HP:0011153)2.92342239
13Arterial tortuosity (HP:0005116)2.81039258
14Visual hallucinations (HP:0002367)2.80934351
15Hypoplastic labia majora (HP:0000059)2.77029430
16Hemiparesis (HP:0001269)2.70668354
17Abnormality of midbrain morphology (HP:0002418)2.68841112
18Molar tooth sign on MRI (HP:0002419)2.68841112
19Vascular tortuosity (HP:0004948)2.68442218
20Agitation (HP:0000713)2.67940418
21Atrophic scars (HP:0001075)2.63314635
22Neoplasm of the heart (HP:0100544)2.58256011
23Decreased circulating renin level (HP:0003351)2.57461598
24Shallow orbits (HP:0000586)2.56211514
25Hypochromic microcytic anemia (HP:0004840)2.55501651
26Abnormality of the lower motor neuron (HP:0002366)2.55231733
27Focal seizures (HP:0007359)2.53714512
28Volvulus (HP:0002580)2.46619875
29Atonic seizures (HP:0010819)2.45093208
30Abnormality of the labia majora (HP:0012881)2.44290788
31* Abnormality of calcium-phosphate metabolism (HP:0100530)2.43784484
32Aplasia/Hypoplasia of the macula (HP:0008059)2.43178942
33Hyperventilation (HP:0002883)2.41993687
34Hyperacusis (HP:0010780)2.37513727
35Flat acetabular roof (HP:0003180)2.34474852
36Progressive cerebellar ataxia (HP:0002073)2.29820028
37Failure to thrive in infancy (HP:0001531)2.29030139
38Bifid tongue (HP:0010297)2.28177931
39Menstrual irregularities (HP:0000858)2.22284220
40Aplasia/Hypoplasia affecting the retina (HP:0008061)2.21974154
41Ulnar bowing (HP:0003031)2.19504392
42* Open mouth (HP:0000194)2.16418869
43Dialeptic seizures (HP:0011146)2.15495062
44Tented upper lip vermilion (HP:0010804)2.15115285
45Chromosomal breakage induced by crosslinking agents (HP:0003221)2.14456840
46Asymmetry of the thorax (HP:0001555)2.14358582
47Wormian bones (HP:0002645)2.14046374
48Termporal pattern (HP:0011008)2.13311935
49Insidious onset (HP:0003587)2.13311935
50Bladder diverticulum (HP:0000015)2.12512606
51Vertebral arch anomaly (HP:0008438)2.12070111
52Relative macrocephaly (HP:0004482)2.11792756
53Nephroblastoma (Wilms tumor) (HP:0002667)2.10831837
54Generalized tonic-clonic seizures (HP:0002069)2.10608736
55Cervical subluxation (HP:0003308)2.08240299
56Broad nasal tip (HP:0000455)2.08161141
57Neurofibrillary tangles (HP:0002185)2.07413965
58Labial hypoplasia (HP:0000066)2.06977771
59Protruding tongue (HP:0010808)2.06756770
60Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.06714486
61Upper limb amyotrophy (HP:0009129)2.06634012
62Distal upper limb amyotrophy (HP:0007149)2.06634012
63Vertebral compression fractures (HP:0002953)2.06560223
64Symptomatic seizures (HP:0011145)2.04901796
65Insomnia (HP:0100785)2.04806922
66Neonatal short-limb short stature (HP:0008921)2.03341472
67Small hand (HP:0200055)2.03201050
68Short nail (HP:0001799)2.02431697
69Cerebral inclusion bodies (HP:0100314)2.02382654
70Aortic dissection (HP:0002647)2.01392749
71Ankle contracture (HP:0006466)2.01251914
72Turricephaly (HP:0000262)2.00007574
73Pendular nystagmus (HP:0012043)1.98550303
74Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.97405212
75Absence seizures (HP:0002121)1.96858357
76Embryonal renal neoplasm (HP:0011794)1.96360098
77Abnormality of DNA repair (HP:0003254)1.96268553
78Fragile skin (HP:0001030)1.95258646
79Hand muscle atrophy (HP:0009130)1.92583624
80Abnormality of the distal phalanx of the thumb (HP:0009617)1.92234013
81Hammertoe (HP:0001765)1.92082831
82Mitral stenosis (HP:0001718)1.91974487
83* Abnormality of dentin (HP:0010299)1.91568924
84Increased circulating renin level (HP:0000848)1.91476469
85Cerebral aneurysm (HP:0004944)1.90705519
86Scrotal hypoplasia (HP:0000046)1.89810632
87Abnormality of carpal bone ossification (HP:0006257)1.89526493
88Papillary thyroid carcinoma (HP:0002895)1.88984675
89Cortical visual impairment (HP:0100704)1.88737092
90Spinal rigidity (HP:0003306)1.88694338
91Right ventricular cardiomyopathy (HP:0011663)1.87414612
92Rib fusion (HP:0000902)1.85914925
93Abnormality of the salivary glands (HP:0010286)1.83902899
94Macroorchidism (HP:0000053)1.83039253
95Coronal craniosynostosis (HP:0004440)1.82967578
96Aplastic anemia (HP:0001915)1.81798522
97Aplasia involving bones of the extremities (HP:0009825)1.81435232
98Aplasia involving bones of the upper limbs (HP:0009823)1.81435232
99Aplasia of the phalanges of the hand (HP:0009802)1.81435232
100Lip pit (HP:0100267)1.80933797
101Cardiovascular calcification (HP:0011915)1.80239181
102Cubitus valgus (HP:0002967)1.79830890
103Neoplasm of the adrenal cortex (HP:0100641)1.79230828
104Excessive salivation (HP:0003781)1.79129051
105Drooling (HP:0002307)1.79129051
106Amblyopia (HP:0000646)1.78736414
107Glioma (HP:0009733)1.78607584
108Bradycardia (HP:0001662)1.78242791
109Mitral valve prolapse (HP:0001634)1.77383246
110Malignant neoplasm of the central nervous system (HP:0100836)1.77174150
111Retinal atrophy (HP:0001105)1.77134807
112Horizontal nystagmus (HP:0000666)1.76796336
113Hypoplastic female external genitalia (HP:0012815)1.76691276
114Ankyloglossia (HP:0010296)1.76010399
115Supernumerary nipples (HP:0002558)1.74356162
116Advanced eruption of teeth (HP:0006288)1.73769810
117Abnormality of the acetabulum (HP:0003170)1.73257927
118Action tremor (HP:0002345)1.71963207
119Abnormal ossification of hand bones (HP:0005921)1.71559698
120Shawl scrotum (HP:0000049)1.71502266
121Overgrowth (HP:0001548)1.71343758
122Rhizomelia (HP:0008905)1.71302997
123Abnormality of the phalanges of the hallux (HP:0010057)1.70956195
124Neuroectodermal neoplasm (HP:0030061)1.70893469
125Neuroepithelial neoplasm (HP:0030063)1.70893469
126Nervous tissue neoplasm (HP:0030060)1.70893469
127Renal duplication (HP:0000075)1.70421607
128Hyperextensible skin (HP:0000974)1.70181167
129Acute lymphatic leukemia (HP:0006721)1.70046470
130Blue irides (HP:0000635)1.69734399
131Type I transferrin isoform profile (HP:0003642)1.69625419
132Genetic anticipation (HP:0003743)1.69301595
133Unilateral renal agenesis (HP:0000122)1.68706593
134Abnormality of renin-angiotensin system (HP:0000847)1.68235849
135Deviation of the thumb (HP:0009603)1.68220037
136Septate vagina (HP:0001153)1.67800409
137Orthostatic hypotension (HP:0001278)1.67691706
138Hyperkalemia (HP:0002153)1.66947840
139Congenital stationary night blindness (HP:0007642)1.66846619
140Mildly elevated creatine phosphokinase (HP:0008180)1.66679476
141Pancreatic islet-cell hyperplasia (HP:0004510)1.66016679
142Ectopic anus (HP:0004397)1.64983467
143Germ cell neoplasia (HP:0100728)1.64979753
144Dysmetric saccades (HP:0000641)1.64327746
145Arnold-Chiari malformation (HP:0002308)1.63694776
146Achilles tendon contracture (HP:0001771)1.63566673
147Increased nuchal translucency (HP:0010880)1.63459041
148Prominent metopic ridge (HP:0005487)1.63300794
149Hyperphosphatemia (HP:0002905)1.63181250
150Mitral regurgitation (HP:0001653)1.62729177
151Heterotopia (HP:0002282)1.62522132
152Vascular calcification (HP:0004934)1.62453100
153Facial cleft (HP:0002006)1.62267090
154Testicular neoplasm (HP:0010788)1.61922788
155Disproportionate tall stature (HP:0001519)1.61869915
156Thin upper lip vermilion (HP:0000219)1.61709227
157Joint laxity (HP:0001388)1.60797229
158Abnormality of pain sensation (HP:0010832)1.60733530
159Impaired pain sensation (HP:0007328)1.60733530
160Natal tooth (HP:0000695)1.60076900
161Broad face (HP:0000283)1.60032989
162Transposition of the great arteries (HP:0001669)1.59989303
163Abnormal connection of the cardiac segments (HP:0011545)1.59989303
164Abnormal ventriculo-arterial connection (HP:0011563)1.59989303
165Spinal cord compression (HP:0002176)1.59666630
166True hermaphroditism (HP:0010459)1.59348340
167Ependymoma (HP:0002888)1.58718240
168Embryonal neoplasm (HP:0002898)1.58425512
169Nasolacrimal duct obstruction (HP:0000579)1.58328755
170Aortic aneurysm (HP:0004942)1.58235149
171Genu recurvatum (HP:0002816)1.58182597
172Smooth philtrum (HP:0000319)1.57778580
173Tapered finger (HP:0001182)1.57628151
174Abnormality of the Achilles tendon (HP:0005109)1.57613189
175Chromsome breakage (HP:0040012)1.57495635
176Severe global developmental delay (HP:0011344)1.57013047
177Pterygium (HP:0001059)1.56835551
178Supranuclear gaze palsy (HP:0000605)1.56527600
179Primitive neuroectodermal tumor (HP:0030065)1.56441376
180Neuroblastic tumors (HP:0004376)1.56441376
181Peripheral primitive neuroectodermal neoplasm (HP:0030067)1.56441376
182Osteolytic defects of the hand bones (HP:0009699)1.54785327
183Osteolytic defects of the phalanges of the hand (HP:0009771)1.54785327
184Back pain (HP:0003418)1.54484790
185Limited elbow extension (HP:0001377)1.53844633
186Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.50961130
187Broad metatarsal (HP:0001783)1.50074516
188Distal lower limb amyotrophy (HP:0008944)1.50061370
189Overlapping toe (HP:0001845)1.49761843
190Soft skin (HP:0000977)1.49213568
191Bowel diverticulosis (HP:0005222)1.48082398
192Overriding aorta (HP:0002623)1.47173037
193Long toe (HP:0010511)1.46655049
194Neonatal death (HP:0003811)1.45875977

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.72968410
2GRK53.22182683
3CDK123.15305255
4WNK32.94446108
5TRIB32.94371260
6MARK12.87097486
7PDGFRA2.77118362
8AKT32.62805426
9ICK2.60880966
10PIK3CG2.57803775
11MAPK152.36872377
12ADRBK22.34532222
13PRKD32.31296805
14NTRK12.13758998
15MET2.07272939
16LATS12.06558804
17GRK72.01713044
18TNIK2.00863781
19HIPK21.97885073
20EEF2K1.95955754
21MST1R1.95175522
22NTRK21.79685268
23EPHA31.77309796
24BRD41.76461028
25PKN21.71291872
26SCYL21.69786815
27EPHA41.69469721
28INSRR1.65860837
29LMTK21.61843937
30ZAK1.61269439
31WNK11.54469987
32MAP3K91.49597612
33DDR21.45607905
34CAMK1D1.43999408
35MARK21.41906096
36SIK31.41721270
37MAP2K71.40102129
38FGFR31.38620443
39TESK11.37137378
40MINK11.35590641
41SIK11.29372686
42EPHB21.29313012
43GRK11.28255291
44CDC42BPA1.26810377
45MAPK131.26798561
46MAP2K41.26619007
47TTN1.25486733
48MAP3K41.24802150
49TTK1.23120367
50MAPK71.22617461
51SMG11.17673577
52IRAK31.16578652
53KSR21.14168377
54MTOR1.14025763
55ARAF1.13886077
56UHMK11.12503190
57IRAK21.06400096
58PHKG21.06017331
59PHKG11.06017331
60MATK1.05307682
61ERN11.04317759
62DYRK1A1.03509883
63EPHA21.01164281
64PAK20.98944800
65CAMKK20.97372540
66PRPF4B0.94844747
67TAOK30.94423588
68CAMK40.93631531
69PAK40.93395923
70PDGFRB0.92021122
71SIK20.91973413
72GRK60.91935712
73FGFR40.89378946
74PRKD20.89358280
75SGK20.88270517
76PAK30.86847845
77MAP3K60.86257231
78RET0.85943524
79PNCK0.85107310
80TYRO30.83667093
81ADRBK10.83091557
82ERBB40.81653283
83IRAK10.80891069
84PRKCG0.79995099
85RIPK40.79818381
86MOS0.77219351
87BRSK10.75061618
88MUSK0.73952833
89TNK20.73726404
90MAP3K120.72480010
91CDK50.71090898
92PRKG20.70481206
93BRAF0.69797982
94PINK10.69610537
95SRPK10.69431242
96SGK30.67878416
97STK380.66710774
98STK30.65945550
99RPS6KA20.65622760
100TRPM70.65072718
101CAMK10.64944068
102CDK150.64069603
103CDK180.62517682
104DMPK0.61233872
105LIMK10.60118593
106PAK60.58405292
107NEK90.58219197
108CDK90.57794249
109CDK11A0.57207087
110EPHB10.56563166
111PLK40.56392412
112LATS20.55944047
113CSNK1E0.55581066
114SGK10.55405661
115CDK140.55220937
116MAPK100.55164682
117EIF2AK10.54739923
118CAMK1G0.54082706
119MAP3K20.53558843
120ROCK20.53147926
121IRAK40.51930216
122KSR10.51318623
123GSK3B0.50388816
124FES0.50037329
125ALK0.49907929
126CAMK2B0.49680338
127FGFR10.49593094
128AKT20.49466689
129CDK70.49442332
130BMPR20.47714436
131CSF1R0.46834073
132ERBB20.45472838
133PLK20.45254276
134SGK2230.45186952
135SGK4940.45186952
136PRKCH0.44849834
137MYLK0.44459576
138MAPK140.44158556
139STK38L0.44013230
140PTK20.43816427
141BMX0.42410495
142PRKCE0.42355984
143PRKCI0.41556175
144MAP2K60.40835175
145CHEK20.40463891
146PDPK10.38857283
147PTK60.38638255
148RPS6KA30.38360027
149ACVR1B0.38211012
150PRKAA10.37963752
151CASK0.36038878
152ERBB30.35805128
153RIPK10.35102042
154MAPK80.34911239
155FLT30.34614174
156YES10.34430469
157ROCK10.34248999
158FER0.33906662

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.73906222
2Maturity onset diabetes of the young_Homo sapiens_hsa049502.58091586
3Insulin secretion_Homo sapiens_hsa049112.49639466
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.38673890
5Circadian entrainment_Homo sapiens_hsa047132.34596483
6GABAergic synapse_Homo sapiens_hsa047272.31174247
7Taste transduction_Homo sapiens_hsa047422.17271272
8Long-term potentiation_Homo sapiens_hsa047202.09560058
9Synaptic vesicle cycle_Homo sapiens_hsa047212.09371547
10Glutamatergic synapse_Homo sapiens_hsa047242.08302323
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.00455660
12Morphine addiction_Homo sapiens_hsa050321.86161097
13Amphetamine addiction_Homo sapiens_hsa050311.84697594
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.84576699
15Serotonergic synapse_Homo sapiens_hsa047261.84335683
16Olfactory transduction_Homo sapiens_hsa047401.76413133
17Adherens junction_Homo sapiens_hsa045201.66724383
18ECM-receptor interaction_Homo sapiens_hsa045121.66194491
19Dopaminergic synapse_Homo sapiens_hsa047281.64946404
20Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.60336344
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.56496471
22Long-term depression_Homo sapiens_hsa047301.52737708
23Salivary secretion_Homo sapiens_hsa049701.51814242
24Cholinergic synapse_Homo sapiens_hsa047251.48714471
25Central carbon metabolism in cancer_Homo sapiens_hsa052301.43543564
26Cocaine addiction_Homo sapiens_hsa050301.43361366
27Renin secretion_Homo sapiens_hsa049241.43257522
28Focal adhesion_Homo sapiens_hsa045101.41138654
29Calcium signaling pathway_Homo sapiens_hsa040201.39201210
30Phototransduction_Homo sapiens_hsa047441.34949321
31* Phosphatidylinositol signaling system_Homo sapiens_hsa040701.33534175
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.33242115
33cAMP signaling pathway_Homo sapiens_hsa040241.27007779
34Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.26388393
35Gastric acid secretion_Homo sapiens_hsa049711.25447682
36Oxytocin signaling pathway_Homo sapiens_hsa049211.25282663
37GnRH signaling pathway_Homo sapiens_hsa049121.25070287
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23942448
39Hippo signaling pathway_Homo sapiens_hsa043901.23262055
40Fatty acid biosynthesis_Homo sapiens_hsa000611.22001825
41Proteoglycans in cancer_Homo sapiens_hsa052051.21243000
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18957072
43Type II diabetes mellitus_Homo sapiens_hsa049301.15847105
44Circadian rhythm_Homo sapiens_hsa047101.14477364
45* Inositol phosphate metabolism_Homo sapiens_hsa005621.12845031
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.12613858
47Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.12267040
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.11205799
49Chronic myeloid leukemia_Homo sapiens_hsa052201.09166842
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.08327434
51Renal cell carcinoma_Homo sapiens_hsa052111.07877132
52Vascular smooth muscle contraction_Homo sapiens_hsa042701.07324131
53Ovarian steroidogenesis_Homo sapiens_hsa049131.06935376
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.06406978
55Tight junction_Homo sapiens_hsa045301.03564230
56Insulin signaling pathway_Homo sapiens_hsa049101.03372511
57AMPK signaling pathway_Homo sapiens_hsa041521.02293891
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.01131396
59SNARE interactions in vesicular transport_Homo sapiens_hsa041301.00692466
60Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.97640539
61Bladder cancer_Homo sapiens_hsa052190.97432504
62MicroRNAs in cancer_Homo sapiens_hsa052060.96279639
63Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.95449051
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.94795260
65Amoebiasis_Homo sapiens_hsa051460.94737083
66Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.92627802
67Estrogen signaling pathway_Homo sapiens_hsa049150.89980545
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.89705997
69Small cell lung cancer_Homo sapiens_hsa052220.88470347
70Vibrio cholerae infection_Homo sapiens_hsa051100.88439267
71Steroid biosynthesis_Homo sapiens_hsa001000.88330605
72Arginine biosynthesis_Homo sapiens_hsa002200.88257155
73Gap junction_Homo sapiens_hsa045400.87680127
74Melanogenesis_Homo sapiens_hsa049160.86530348
75Lysine degradation_Homo sapiens_hsa003100.85780156
762-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.84267999
77Type I diabetes mellitus_Homo sapiens_hsa049400.83933427
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83930094
79TGF-beta signaling pathway_Homo sapiens_hsa043500.83771454
80Wnt signaling pathway_Homo sapiens_hsa043100.83086619
81AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81210046
82Protein digestion and absorption_Homo sapiens_hsa049740.81136107
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81071012
84Bile secretion_Homo sapiens_hsa049760.80943580
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79934099
86Pancreatic secretion_Homo sapiens_hsa049720.78754979
87Choline metabolism in cancer_Homo sapiens_hsa052310.75977545
88VEGF signaling pathway_Homo sapiens_hsa043700.75773154
89Fructose and mannose metabolism_Homo sapiens_hsa000510.75424607
90Other glycan degradation_Homo sapiens_hsa005110.74871151
91Biosynthesis of amino acids_Homo sapiens_hsa012300.74682078
92Pentose phosphate pathway_Homo sapiens_hsa000300.74617458
93Axon guidance_Homo sapiens_hsa043600.73405246
94Pancreatic cancer_Homo sapiens_hsa052120.73263836
95Fatty acid metabolism_Homo sapiens_hsa012120.71300617
96Notch signaling pathway_Homo sapiens_hsa043300.71105826
97Regulation of actin cytoskeleton_Homo sapiens_hsa048100.70360925
98mRNA surveillance pathway_Homo sapiens_hsa030150.68833138
99Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.68693020
100mTOR signaling pathway_Homo sapiens_hsa041500.67861637
101Hedgehog signaling pathway_Homo sapiens_hsa043400.66508014
102Protein export_Homo sapiens_hsa030600.66136255
103Prostate cancer_Homo sapiens_hsa052150.65902779
104Glioma_Homo sapiens_hsa052140.65693661
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65242749
106Thyroid hormone synthesis_Homo sapiens_hsa049180.65061529
107Neurotrophin signaling pathway_Homo sapiens_hsa047220.64747631
108Carbon metabolism_Homo sapiens_hsa012000.64100202
109Melanoma_Homo sapiens_hsa052180.63719955
110ErbB signaling pathway_Homo sapiens_hsa040120.63203566
111Collecting duct acid secretion_Homo sapiens_hsa049660.62792212
112Basal cell carcinoma_Homo sapiens_hsa052170.62626580
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61573959
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.61119654
115Sphingolipid metabolism_Homo sapiens_hsa006000.60887982
116MAPK signaling pathway_Homo sapiens_hsa040100.60793604
117Glycosaminoglycan degradation_Homo sapiens_hsa005310.60673987
118N-Glycan biosynthesis_Homo sapiens_hsa005100.60563944
119Galactose metabolism_Homo sapiens_hsa000520.60245251
120Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59998391
121Rap1 signaling pathway_Homo sapiens_hsa040150.59925347
122Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59161406
123Arginine and proline metabolism_Homo sapiens_hsa003300.58370897
124Oocyte meiosis_Homo sapiens_hsa041140.57844077
125Arachidonic acid metabolism_Homo sapiens_hsa005900.57554426
126Dorso-ventral axis formation_Homo sapiens_hsa043200.57379587
127Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.57010845
128Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.56980379
129RNA degradation_Homo sapiens_hsa030180.56360853
130Dilated cardiomyopathy_Homo sapiens_hsa054140.55549367
131Ras signaling pathway_Homo sapiens_hsa040140.55401870
132Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.54941107
133Glucagon signaling pathway_Homo sapiens_hsa049220.54881277
134PI3K-Akt signaling pathway_Homo sapiens_hsa041510.54507079
135Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.53649448
136Regulation of autophagy_Homo sapiens_hsa041400.53219326
137Fanconi anemia pathway_Homo sapiens_hsa034600.51030736
138Vitamin B6 metabolism_Homo sapiens_hsa007500.50316673
139Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49057677
140Prion diseases_Homo sapiens_hsa050200.47851807
141Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47428798
142Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46609256
143Thyroid cancer_Homo sapiens_hsa052160.45575120
144Sphingolipid signaling pathway_Homo sapiens_hsa040710.45205133
145Transcriptional misregulation in cancer_Homo sapiens_hsa052020.44552754
146Endometrial cancer_Homo sapiens_hsa052130.42232032
147Alcoholism_Homo sapiens_hsa050340.41719503
148African trypanosomiasis_Homo sapiens_hsa051430.38672111
149Non-small cell lung cancer_Homo sapiens_hsa052230.38594712

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