PPEF2

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





Description: This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1phototransduction, visible light (GO:0007603)9.92956413
2GMP metabolic process (GO:0046037)9.91390776
3detection of visible light (GO:0009584)9.58799821
4detection of light stimulus (GO:0009583)9.55541937
5protein-chromophore linkage (GO:0018298)9.33454813
6* visual perception (GO:0007601)8.53501376
7* sensory perception of light stimulus (GO:0050953)8.44704888
8positive regulation of guanylate cyclase activity (GO:0031284)8.26776962
9nuclear pore complex assembly (GO:0051292)8.11909822
10regulation of guanylate cyclase activity (GO:0031282)7.42138003
11photoreceptor cell differentiation (GO:0046530)7.33936794
12eye photoreceptor cell differentiation (GO:0001754)7.33936794
13cellular response to light stimulus (GO:0071482)7.12452184
14nuclear pore organization (GO:0006999)7.08401163
15detection of external stimulus (GO:0009581)6.77681735
16detection of abiotic stimulus (GO:0009582)6.70478528
17retina development in camera-type eye (GO:0060041)6.62730861
18innate immune response in mucosa (GO:0002227)6.05972190
19pore complex assembly (GO:0046931)6.00416429
20regulation of cGMP metabolic process (GO:0030823)5.32843303
21nonmotile primary cilium assembly (GO:0035058)5.18863883
22antibacterial humoral response (GO:0019731)5.02713533
23daunorubicin metabolic process (GO:0044597)4.97292545
24polyketide metabolic process (GO:0030638)4.97292545
25doxorubicin metabolic process (GO:0044598)4.97292545
26negative regulation of DNA repair (GO:0045738)4.87204783
27positive regulation of cGMP biosynthetic process (GO:0030828)4.85662331
28mature B cell differentiation involved in immune response (GO:0002313)4.84304686
29mucosal immune response (GO:0002385)4.84038146
30cellular response to radiation (GO:0071478)4.78477330
31regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.75001685
32detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.65792177
33regulation of cGMP biosynthetic process (GO:0030826)4.52889336
34antimicrobial humoral response (GO:0019730)4.49011138
35estrogen biosynthetic process (GO:0006703)4.41948476
36aminoglycoside antibiotic metabolic process (GO:0030647)4.38047918
37organ or tissue specific immune response (GO:0002251)4.34470233
38positive regulation of cGMP metabolic process (GO:0030825)4.23026546
39mature B cell differentiation (GO:0002335)4.18966260
40regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)4.12488122
41* sensory perception (GO:0007600)4.05638228
42embryonic process involved in female pregnancy (GO:0060136)4.03492300
43retina vasculature morphogenesis in camera-type eye (GO:0061299)4.02599997
44adaptation of signaling pathway (GO:0023058)4.01547338
45retina layer formation (GO:0010842)3.99362277
46negative regulation of fatty acid transport (GO:2000192)3.86751531
47response to light stimulus (GO:0009416)3.79217532
48receptor guanylyl cyclase signaling pathway (GO:0007168)3.76211843
49neuron development (GO:0048666)3.75619667
50interkinetic nuclear migration (GO:0022027)3.73579970
51positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.73042227
52cellular response to ethanol (GO:0071361)3.69892437
53cell morphogenesis involved in neuron differentiation (GO:0048667)3.69868462
54prenylation (GO:0097354)3.66052472
55protein prenylation (GO:0018342)3.66052472
56peptidyl-lysine dimethylation (GO:0018027)3.62075288
57cytoplasmic mRNA processing body assembly (GO:0033962)3.55978531
58positive regulation of transcription from RNA polymerase III promoter (GO:0045945)3.50086835
59phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.49393508
60hemidesmosome assembly (GO:0031581)3.48552331
61nucleosome assembly (GO:0006334)3.47448635
62regulation of penile erection (GO:0060405)3.46018822
63regulation of transforming growth factor beta2 production (GO:0032909)3.40109715
64chromatin assembly (GO:0031497)3.39329219
65regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.37155882
66regulation of voltage-gated calcium channel activity (GO:1901385)3.36708864
67regulation of histone H3-K9 methylation (GO:0051570)3.28958902
68cell adhesion mediated by integrin (GO:0033627)3.26814134
69axoneme assembly (GO:0035082)3.25812944
70coronary vasculature morphogenesis (GO:0060977)3.22587668
71positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.20119252
72positive regulation of DNA-templated transcription, initiation (GO:2000144)3.17696163
73positive regulation of endothelial cell apoptotic process (GO:2000353)3.16020485
74protein localization to synapse (GO:0035418)3.11758301
75behavioral response to ethanol (GO:0048149)3.11225876
76labyrinthine layer development (GO:0060711)3.11219489
77retina homeostasis (GO:0001895)3.08773640
78DNA replication-dependent nucleosome assembly (GO:0006335)3.08646714
79DNA replication-dependent nucleosome organization (GO:0034723)3.08646714
80regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.07881360
81regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.07881360
82glomerular visceral epithelial cell development (GO:0072015)3.04495268
83protein localization to endosome (GO:0036010)3.02565013
84peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.01453048
85nucleus localization (GO:0051647)3.00493566
86positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)3.00430825
87midgut development (GO:0007494)2.99366644
88cellular response to vitamin D (GO:0071305)2.97922491
89cytoskeletal anchoring at plasma membrane (GO:0007016)2.96398776
90DNA duplex unwinding (GO:0032508)2.95559045
91negative regulation of mast cell activation (GO:0033004)2.94915465
92righting reflex (GO:0060013)2.93473695
93urea cycle (GO:0000050)2.93101384
94response to histamine (GO:0034776)2.92483021
95regulation of short-term neuronal synaptic plasticity (GO:0048172)2.89835674
96regulation of protein polyubiquitination (GO:1902914)2.88866959
97negative regulation of anoikis (GO:2000811)2.87777632
98startle response (GO:0001964)2.86957091
99dosage compensation (GO:0007549)2.86866275
100detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.86245864
101regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.85359680
102protein localization to cell surface (GO:0034394)2.83762653
103DNA geometric change (GO:0032392)2.82337624
104COPII vesicle coating (GO:0048208)2.82034030
105protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)2.81592033
106positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.80873503
107positive regulation of neurotransmitter transport (GO:0051590)2.79146612
108nucleosome organization (GO:0034728)2.76945544
109response to radiation (GO:0009314)2.76245394
110establishment of nucleus localization (GO:0040023)2.76218334
111regulation of clathrin-mediated endocytosis (GO:2000369)2.75428933
112insulin-like growth factor receptor signaling pathway (GO:0048009)2.75065799
113protein-DNA complex assembly (GO:0065004)2.70297452
114gastrulation with mouth forming second (GO:0001702)2.69552445
115auditory receptor cell stereocilium organization (GO:0060088)2.67187520
116negative regulation of transcription regulatory region DNA binding (GO:2000678)2.67029786
117positive regulation of myoblast differentiation (GO:0045663)2.66461198
118dorsal/ventral axis specification (GO:0009950)2.66425403
119Golgi to endosome transport (GO:0006895)2.66229659
120membrane hyperpolarization (GO:0060081)2.65775026
121dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.64406663
122replicative senescence (GO:0090399)2.63773241
123UDP-N-acetylglucosamine metabolic process (GO:0006047)2.63359735
124detection of chemical stimulus involved in sensory perception (GO:0050907)2.62751097
125Golgi to plasma membrane transport (GO:0006893)2.61686200
126urea metabolic process (GO:0019627)2.61598022
127short-term memory (GO:0007614)2.61099312
128polyol biosynthetic process (GO:0046173)2.60883691
129centrosome duplication (GO:0051298)2.60418215
130DNA unwinding involved in DNA replication (GO:0006268)2.58586492
131glomerular epithelial cell development (GO:0072310)2.57900597
132cell-substrate junction assembly (GO:0007044)2.56410161
133retinoid metabolic process (GO:0001523)2.55688516
134platelet-derived growth factor receptor signaling pathway (GO:0048008)2.55516264
135renal filtration (GO:0097205)2.55307818
136regulation of establishment of cell polarity (GO:2000114)2.54780945
137progesterone metabolic process (GO:0042448)2.54500216
138regulation of hippo signaling (GO:0035330)2.52903622
139appendage development (GO:0048736)2.52388757
140limb development (GO:0060173)2.52388757
141mitotic cytokinesis (GO:0000281)2.52048311
142Golgi organization (GO:0007030)2.51896241
143positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.51198677
144positive regulation of cation channel activity (GO:2001259)2.50941234
145paraxial mesoderm development (GO:0048339)2.50798155
146embryonic camera-type eye morphogenesis (GO:0048596)2.50173210
147chondrocyte development (GO:0002063)2.48799653
148positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.48562836
149regulation of pigment cell differentiation (GO:0050932)2.48391712
150protein K48-linked deubiquitination (GO:0071108)2.47551217
151nucleobase-containing small molecule interconversion (GO:0015949)2.46914490
152positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)2.45569866
153regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.44839010
154pre-miRNA processing (GO:0031054)2.43058955
155plasma membrane repair (GO:0001778)2.42928719
156peptidyl-threonine modification (GO:0018210)2.42148705
157negative regulation of receptor-mediated endocytosis (GO:0048261)2.40909992
158epithelial cell-cell adhesion (GO:0090136)2.40904227
159synaptic vesicle docking involved in exocytosis (GO:0016081)2.40780122
160morphogenesis of an epithelial sheet (GO:0002011)2.40173451
161regulation of fatty acid beta-oxidation (GO:0031998)2.39865255
162monoubiquitinated protein deubiquitination (GO:0035520)2.39642426
163retinal metabolic process (GO:0042574)2.38516943
164regulation of anoikis (GO:2000209)2.38513456
165myoblast differentiation (GO:0045445)2.38375380
166protein heterotetramerization (GO:0051290)2.37849119
167synaptic transmission, dopaminergic (GO:0001963)2.33825473
168diterpenoid metabolic process (GO:0016101)2.33807574
169cellular response to abiotic stimulus (GO:0071214)2.33728166
170post-embryonic morphogenesis (GO:0009886)2.28833292
171positive regulation of ERBB signaling pathway (GO:1901186)2.28613746
172arachidonic acid secretion (GO:0050482)2.28480720
173icosanoid secretion (GO:0032309)2.28480720
174retinol metabolic process (GO:0042572)2.27044791
175detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.25518504
176positive regulation of sodium ion transmembrane transport (GO:1902307)2.25077648
177histone H3-K4 trimethylation (GO:0080182)2.21307537
178chemosensory behavior (GO:0007635)2.19638311
179response to pheromone (GO:0019236)2.17324113
180positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.15488471
181CDP-diacylglycerol biosynthetic process (GO:0016024)2.14047258
182protein localization to cilium (GO:0061512)2.13762445
183cilium organization (GO:0044782)2.13176700
184phospholipid translocation (GO:0045332)2.12341362
185lipid translocation (GO:0034204)2.12341362
186dopamine receptor signaling pathway (GO:0007212)2.09703465
187terpenoid metabolic process (GO:0006721)2.09562986
188regulation of rhodopsin mediated signaling pathway (GO:0022400)17.1715250
189rhodopsin mediated signaling pathway (GO:0016056)16.7747866
190retinal cone cell development (GO:0046549)14.5679097
191photoreceptor cell development (GO:0042461)12.6223750
192eye photoreceptor cell development (GO:0042462)12.1794444
193photoreceptor cell maintenance (GO:0045494)12.0235425
194detection of light stimulus involved in sensory perception (GO:0050962)10.7040486
195detection of light stimulus involved in visual perception (GO:0050908)10.7040486
196retinal rod cell development (GO:0046548)10.0784038
197phototransduction (GO:0007602)10.0239657

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse5.55709434
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.22773583
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.80244600
4GBX2_23144817_ChIP-Seq_PC3_Human3.78597409
5HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.40264615
6CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse3.38588595
7CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons3.28175564
8E2F7_22180533_ChIP-Seq_HELA_Human3.21983580
9VDR_22108803_ChIP-Seq_LS180_Human2.87317906
10SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.59320368
11STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.51437156
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.40259639
13SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.39084207
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.30385322
15DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.28532210
16TP63_17297297_ChIP-ChIP_HaCaT_Human2.25671340
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.25641616
18GATA1_22025678_ChIP-Seq_K562_Human2.20226957
19ZNF217_24962896_ChIP-Seq_MCF-7_Human2.09666055
20CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.04657591
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse14.4863943
22IGF1R_20145208_ChIP-Seq_DFB_Human1.99194916
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.93449352
24EGR1_23403033_ChIP-Seq_LIVER_Mouse1.92074773
25AR_21572438_ChIP-Seq_LNCaP_Human1.89137194
26MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.88390563
27FLI1_27457419_Chip-Seq_LIVER_Mouse1.87575944
28SUZ12_27294783_Chip-Seq_NPCs_Mouse1.86135774
29NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.85018676
30PCGF2_27294783_Chip-Seq_ESCs_Mouse1.76158803
31NFE2_27457419_Chip-Seq_LIVER_Mouse1.70511873
32NANOG_18555785_Chip-Seq_ESCs_Mouse1.68514063
33FOXM1_23109430_ChIP-Seq_U2OS_Human1.65566468
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.65190657
35SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.62929308
36SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.62929308
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.61656186
38TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.61241906
39E2F1_18555785_Chip-Seq_ESCs_Mouse1.54472287
40* SMAD4_21799915_ChIP-Seq_A2780_Human1.52102490
41TP53_16413492_ChIP-PET_HCT116_Human1.51362808
42AHR_22903824_ChIP-Seq_MCF-7_Human1.50904536
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.50674306
44SMAD3_21741376_ChIP-Seq_HESCs_Human1.50498303
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.48458012
46FOXO3_23340844_ChIP-Seq_DLD1_Human1.45723738
47DROSHA_22980978_ChIP-Seq_HELA_Human1.45547125
48SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.43748310
49AR_21909140_ChIP-Seq_LNCAP_Human1.42514348
50CBX2_27304074_Chip-Seq_ESCs_Mouse1.41963902
51NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.41520323
52NRF2_20460467_ChIP-Seq_MEFs_Mouse1.41520323
53TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.40991860
54SUZ12_18555785_Chip-Seq_ESCs_Mouse1.40196649
55EGR1_19374776_ChIP-ChIP_THP-1_Human1.40165941
56P300_19829295_ChIP-Seq_ESCs_Human1.38846452
57EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.38713043
58POU5F1_16153702_ChIP-ChIP_HESCs_Human1.38123092
59HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.36851761
60ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36792269
61EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.36629575
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.36083255
63BRD4_25478319_ChIP-Seq_HGPS_Human1.35249107
64STAT3_18555785_Chip-Seq_ESCs_Mouse1.33430926
65CMYC_18555785_Chip-Seq_ESCs_Mouse1.33190514
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33177869
67CTNNB1_20460455_ChIP-Seq_HCT116_Human1.33150824
68* STAT3_23295773_ChIP-Seq_U87_Human1.32463237
69ZFX_18555785_Chip-Seq_ESCs_Mouse1.32307460
70SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.32211636
71P53_22387025_ChIP-Seq_ESCs_Mouse1.31592205
72REST_21632747_ChIP-Seq_MESCs_Mouse1.31374168
73SOX2_18555785_Chip-Seq_ESCs_Mouse1.30496254
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.30422183
75EZH2_27294783_Chip-Seq_NPCs_Mouse1.29836905
76E2F1_21310950_ChIP-Seq_MCF-7_Human1.29602129
77PPAR_26484153_Chip-Seq_NCI-H1993_Human1.29085387
78SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.27875748
79FOXM1_26456572_ChIP-Seq_MCF-7_Human1.27320768
80ER_23166858_ChIP-Seq_MCF-7_Human1.26856885
81P300_18555785_Chip-Seq_ESCs_Mouse1.26560090
82KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.26174431
83TBL1_22424771_ChIP-Seq_293T_Human1.25864189
84EZH2_27294783_Chip-Seq_ESCs_Mouse1.25028773
85NMYC_18555785_Chip-Seq_ESCs_Mouse1.24626054
86ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.23718979
87P53_22127205_ChIP-Seq_FIBROBLAST_Human1.23687823
88ARNT_22903824_ChIP-Seq_MCF-7_Human1.23611313
89CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.22262768
90CTCF_18555785_Chip-Seq_ESCs_Mouse1.21940390
91* TCF4_23295773_ChIP-Seq_U87_Human1.20615679
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19837127
93FUS_26573619_Chip-Seq_HEK293_Human1.19797127
94SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.19703863
95* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19301006
96IKZF1_21737484_ChIP-ChIP_HCT116_Human1.17562465
97KLF4_18555785_Chip-Seq_ESCs_Mouse1.17323689
98TP53_18474530_ChIP-ChIP_U2OS_Human1.17309977
99EZH2_27304074_Chip-Seq_ESCs_Mouse1.16982689
100SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.16754099
101TCF4_18268006_ChIP-ChIP_LS174T_Human1.15954397
102EP300_21415370_ChIP-Seq_HL-1_Mouse1.15599233
103ESRRB_18555785_Chip-Seq_ESCs_Mouse1.15591545
104TRIM28_21343339_ChIP-Seq_HEK293_Human1.15447551
105FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.15170580
106RNF2_27304074_Chip-Seq_NSC_Mouse1.14603267
107TP63_19390658_ChIP-ChIP_HaCaT_Human1.14180039
108GF1_26923725_Chip-Seq_HPCs_Mouse1.14091576
109JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14047976
110* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.13412144
111SALL1_21062744_ChIP-ChIP_HESCs_Human1.13305814
112FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.13253155
113RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.13120649
114EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.13040923
115PIAS1_25552417_ChIP-Seq_VCAP_Human1.11627972
116AR_19668381_ChIP-Seq_PC3_Human1.11376570
117LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11257418
118RNF2_27304074_Chip-Seq_ESCs_Mouse1.10867272
119CJUN_26792858_Chip-Seq_BT549_Human1.10866170
120FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.10648861
121SOX9_24532713_ChIP-Seq_HFSC_Mouse1.10449727
122PU1_27457419_Chip-Seq_LIVER_Mouse1.08262082
123UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07987314
124PRDM14_20953172_ChIP-Seq_ESCs_Human1.07573504
125TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06322366
126POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.06322366
127SUZ12_27294783_Chip-Seq_ESCs_Mouse1.06139077
128TAL1_26923725_Chip-Seq_HPCs_Mouse1.05684242
129OCT4_18555785_Chip-Seq_ESCs_Mouse1.05416117
130WT1_19549856_ChIP-ChIP_CCG9911_Human1.04607686
131KDM2B_26808549_Chip-Seq_REH_Human1.04347253
132SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.02678296
133RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02529451
134WDR5_24793694_ChIP-Seq_LNCAP_Human1.02078114
135OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01855327
136SMAD1_18555785_Chip-Seq_ESCs_Mouse1.01490199
137FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01321906
138REST_18959480_ChIP-ChIP_MESCs_Mouse0.99996504
139CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99806925
140RUNX1_27457419_Chip-Seq_LIVER_Mouse0.99307660
141SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.99227467
142AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98527726
143EZH2_18974828_ChIP-Seq_MESCs_Mouse0.98254096
144RNF2_18974828_ChIP-Seq_MESCs_Mouse0.98254096
145SOX2_16153702_ChIP-ChIP_HESCs_Human0.98218904
146SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.97020652
147CTBP2_25329375_ChIP-Seq_LNCAP_Human0.96813490
148EED_16625203_ChIP-ChIP_MESCs_Mouse0.96592183
149IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95555526
150CBP_20019798_ChIP-Seq_JUKART_Human0.95555526
151RUNX2_22187159_ChIP-Seq_PCA_Human0.95350428
152LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95284272
153YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93499930
154SALL4_18804426_ChIP-ChIP_XEN_Mouse0.92830150
155NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89808474
156FOXA2_19822575_ChIP-Seq_HepG2_Human0.89204040
157PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.88837279
158TP63_23658742_ChIP-Seq_EP156T_Human0.87224664
159NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.85395890
160KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.85043556
161PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.84231079
162PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.82970224
163SOX9_26525672_Chip-Seq_HEART_Mouse0.82695372
164SALL4_22934838_ChIP-ChIP_CD34+_Human0.82305269
165RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.81033228
166STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.78835540
167HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.77885344
168ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.77545929
169NR3C1_23031785_ChIP-Seq_PC12_Mouse0.76941518
170SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.76915197
171CLOCK_20551151_ChIP-Seq_293T_Human0.76847269
172IRF1_19129219_ChIP-ChIP_H3396_Human0.76475576
173KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.74652255
174PKCTHETA_26484144_Chip-Seq_BREAST_Human0.74441727
175SMAD3_21741376_ChIP-Seq_EPCs_Human0.73483573
176RBPJ_22232070_ChIP-Seq_NCS_Mouse0.73444914
177ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.72396924
178GATA6_25053715_ChIP-Seq_YYC3_Human0.71992394
179* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.71832995
180GATA2_21666600_ChIP-Seq_HMVEC_Human0.71196380

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation9.87177784
2MP0005551_abnormal_eye_electrophysiolog9.56108743
3MP0005253_abnormal_eye_physiology6.81494250
4MP0006072_abnormal_retinal_apoptosis6.41409850
5MP0010352_gastrointestinal_tract_polyps5.01208873
6MP0005195_abnormal_posterior_eye3.83099972
7MP0003950_abnormal_plasma_membrane3.78416576
8MP0001324_abnormal_eye_pigmentation3.69494053
9MP0005391_vision/eye_phenotype3.32300844
10MP0002009_preneoplasia3.30002187
11MP0002638_abnormal_pupillary_reflex3.22088236
12MP0003705_abnormal_hypodermis_morpholog2.95219622
13MP0010234_abnormal_vibrissa_follicle2.81441777
14MP0002090_abnormal_vision2.75378800
15MP0008438_abnormal_cutaneous_collagen2.56296714
16MP0002229_neurodegeneration2.54720468
17MP0006292_abnormal_olfactory_placode2.48301270
18MP0000537_abnormal_urethra_morphology2.41669460
19MP0001986_abnormal_taste_sensitivity2.38115328
20MP0003868_abnormal_feces_composition2.36722339
21MP0000013_abnormal_adipose_tissue2.28203893
22MP0003091_abnormal_cell_migration2.24463174
23MP0004185_abnormal_adipocyte_glucose2.21722668
24MP0005423_abnormal_somatic_nervous2.15653242
25MP0003941_abnormal_skin_development2.10260695
26MP0004272_abnormal_basement_membrane2.09520239
27MP0001764_abnormal_homeostasis2.09086778
28MP0003566_abnormal_cell_adhesion2.06658797
29MP0001661_extended_life_span2.06589983
30MP0002752_abnormal_somatic_nervous1.98873840
31MP0005408_hypopigmentation1.97772016
32MP0005275_abnormal_skin_tensile1.93333591
33MP0002166_altered_tumor_susceptibility1.90995087
34MP0002877_abnormal_melanocyte_morpholog1.88851174
35MP0001502_abnormal_circadian_rhythm1.86950929
36MP0010678_abnormal_skin_adnexa1.73942832
37MP0002653_abnormal_ependyma_morphology1.72259550
38MP0010307_abnormal_tumor_latency1.71465745
39MP0003300_gastrointestinal_ulcer1.57865719
40MP0000733_abnormal_muscle_development1.55276498
41MP0005409_darkened_coat_color1.47017736
42MP0002006_tumorigenesis1.46020344
43MP0003453_abnormal_keratinocyte_physiol1.44744128
44MP0001299_abnormal_eye_distance/1.40884181
45MP0000383_abnormal_hair_follicle1.40264164
46MP0006054_spinal_hemorrhage1.38093220
47MP0002139_abnormal_hepatobiliary_system1.34947349
48MP0009384_cardiac_valve_regurgitation1.33128261
49MP0002882_abnormal_neuron_morphology1.31196726
50MP0004130_abnormal_muscle_cell1.25260278
51MP0005023_abnormal_wound_healing1.24970272
52MP0003937_abnormal_limbs/digits/tail_de1.20019911
53MP0003077_abnormal_cell_cycle1.19900314
54MP0005076_abnormal_cell_differentiation1.19893315
55MP0002396_abnormal_hematopoietic_system1.19876356
56MP0005623_abnormal_meninges_morphology1.19506047
57MP0004019_abnormal_vitamin_homeostasis1.16241856
58MP0005394_taste/olfaction_phenotype1.15106215
59MP0005499_abnormal_olfactory_system1.15106215
60MP0002086_abnormal_extraembryonic_tissu1.13741435
61MP0004808_abnormal_hematopoietic_stem1.12189597
62MP0000371_diluted_coat_color1.11448873
63MP0008789_abnormal_olfactory_epithelium1.10167269
64MP0003828_pulmonary_edema1.09932072
65MP0005666_abnormal_adipose_tissue1.08278861
66MP0001984_abnormal_olfaction1.06429147
67MP0000003_abnormal_adipose_tissue1.05575126
68MP0001486_abnormal_startle_reflex0.99675442
69MP0002092_abnormal_eye_morphology0.99072827
70MP0000428_abnormal_craniofacial_morphol0.98379902
71MP0005197_abnormal_uvea_morphology0.97750599
72MP0002060_abnormal_skin_morphology0.96726010
73MP0003984_embryonic_growth_retardation0.96410360
74MP0010386_abnormal_urinary_bladder0.96134991
75MP0001958_emphysema0.95748376
76MP0002088_abnormal_embryonic_growth/wei0.94175453
77MP0004957_abnormal_blastocyst_morpholog0.92789914
78MP0004084_abnormal_cardiac_muscle0.92658047
79MP0004036_abnormal_muscle_relaxation0.92016749
80MP0003632_abnormal_nervous_system0.91692871
81MP0000569_abnormal_digit_pigmentation0.90750688
82MP0002084_abnormal_developmental_patter0.90360545
83MP0001188_hyperpigmentation0.88818771
84MP0004885_abnormal_endolymph0.88447817
85MP0002933_joint_inflammation0.87196431
86MP0003385_abnormal_body_wall0.86820264
87MP0008058_abnormal_DNA_repair0.86030809
88MP0004134_abnormal_chest_morphology0.85133584
89MP0002896_abnormal_bone_mineralization0.84733566
90MP0004782_abnormal_surfactant_physiolog0.84149362
91MP0008932_abnormal_embryonic_tissue0.83431020
92MP0001672_abnormal_embryogenesis/_devel0.82719370
93MP0005380_embryogenesis_phenotype0.82719370
94MP0003221_abnormal_cardiomyocyte_apopto0.81751621
95MP0003935_abnormal_craniofacial_develop0.80402746
96MP0000627_abnormal_mammary_gland0.79767516
97MP0008260_abnormal_autophagy0.76533623
98MP0003191_abnormal_cellular_cholesterol0.74822845
99MP0001963_abnormal_hearing_physiology0.74441807
100MP0010030_abnormal_orbit_morphology0.74154013
101MP0000377_abnormal_hair_follicle0.73718447
102MP0001286_abnormal_eye_development0.73436443
103MP0003045_fibrosis0.73432374
104MP0005375_adipose_tissue_phenotype0.71605679
105MP0000350_abnormal_cell_proliferation0.70583495
106MP0000759_abnormal_skeletal_muscle0.70541615
107MP0002127_abnormal_cardiovascular_syste0.69264904
108MP0005621_abnormal_cell_physiology0.68848802
109MP0002269_muscular_atrophy0.67931649
110MP0006138_congestive_heart_failure0.67357149
111MP0000762_abnormal_tongue_morphology0.67161062
112MP0001186_pigmentation_phenotype0.66559575
113MP0004947_skin_inflammation0.66538541
114MP0002928_abnormal_bile_duct0.66074983
115MP0002925_abnormal_cardiovascular_devel0.65137679
116MP0003787_abnormal_imprinting0.65008745
117MP0000767_abnormal_smooth_muscle0.64837764
118MP0004233_abnormal_muscle_weight0.64488460
119MP0010094_abnormal_chromosome_stability0.63624573
120MP0000747_muscle_weakness0.61535394
121MP0003880_abnormal_central_pattern0.61031413
122MP0008004_abnormal_stomach_pH0.61026796
123MP0005646_abnormal_pituitary_gland0.60921139
124MP0003890_abnormal_embryonic-extraembry0.58463032
125MP0003634_abnormal_glial_cell0.57332599
126MP0000026_abnormal_inner_ear0.55613985
127MP0002272_abnormal_nervous_system0.54960411
128MP0009046_muscle_twitch0.54720580
129MP0000631_abnormal_neuroendocrine_gland0.54084669
130MP0002102_abnormal_ear_morphology0.53819809
131MP0004742_abnormal_vestibular_system0.53699802
132MP0002067_abnormal_sensory_capabilities0.46959798
133MP0009697_abnormal_copulation0.44888352
134MP0009764_decreased_sensitivity_to0.43733678
135MP0000465_gastrointestinal_hemorrhage0.43324505
136MP0004924_abnormal_behavior0.43104168
137MP0005386_behavior/neurological_phenoty0.43104168
138MP0004270_analgesia0.42126598
139MP0005171_absent_coat_pigmentation0.41089424
140MP0003646_muscle_fatigue0.39813188
141MP0002064_seizures0.39806173
142MP0005248_abnormal_Harderian_gland0.37673126
143MP0001293_anophthalmia0.35455625
144MP0002876_abnormal_thyroid_physiology0.35191075
145MP0002572_abnormal_emotion/affect_behav0.33505915
146MP0004142_abnormal_muscle_tone0.33126248
147MP0002734_abnormal_mechanical_nocicepti0.33030797
148MP0002332_abnormal_exercise_endurance0.30845103
149MP0002063_abnormal_learning/memory/cond0.29852036
150MP0001835_abnormal_antigen_presentation0.29779497
151MP0009745_abnormal_behavioral_response0.28923391
152MP0005645_abnormal_hypothalamus_physiol0.28507780
153MP0003635_abnormal_synaptic_transmissio0.28133757
154MP0001270_distended_abdomen0.27422603
155MP0002148_abnormal_hypersensitivity_rea0.26028335
156MP0001968_abnormal_touch/_nociception0.25872654
157MP0002697_abnormal_eye_size0.25589903
158MP0003252_abnormal_bile_duct0.25557936
159MP0008007_abnormal_cellular_replicative0.25361321
160MP0005310_abnormal_salivary_gland0.25070357
161MP0005376_homeostasis/metabolism_phenot0.24774362
162MP0000015_abnormal_ear_pigmentation0.24221560
163MP0002184_abnormal_innervation0.23135987
164MP0005220_abnormal_exocrine_pancreas0.22191367
165MP0003172_abnormal_lysosome_physiology0.20938313
166MP0003943_abnormal_hepatobiliary_system0.20508744
167MP0003879_abnormal_hair_cell0.20346098
168MP0003111_abnormal_nucleus_morphology0.20038803
169MP0002277_abnormal_respiratory_mucosa0.19916898
170MP0002152_abnormal_brain_morphology0.18834249
171MP0001915_intracranial_hemorrhage0.17767887
172MP0003183_abnormal_peptide_metabolism0.17572098
173MP0005187_abnormal_penis_morphology0.17154284
174MP0002066_abnormal_motor_capabilities/c0.16410506
175MP0001177_atelectasis0.16180824
176MP0008057_abnormal_DNA_replication0.15501576
177MP0005193_abnormal_anterior_eye0.15151524
178MP0001879_abnormal_lymphatic_vessel0.15119876
179MP0002751_abnormal_autonomic_nervous0.14594719

Predicted human phenotypes

RankGene SetZ-score
1Abnormal rod and cone electroretinograms (HP:0008323)9.72190971
2Dyschromatopsia (HP:0007641)8.64658551
3Chorioretinal atrophy (HP:0000533)8.50530225
4Pigmentary retinal degeneration (HP:0001146)8.26049269
5Pendular nystagmus (HP:0012043)8.11939339
6Central scotoma (HP:0000603)8.05817625
7Abnormality of macular pigmentation (HP:0008002)7.44761713
8Scotoma (HP:0000575)7.16801985
9Attenuation of retinal blood vessels (HP:0007843)7.06991835
10Abolished electroretinogram (ERG) (HP:0000550)7.00271517
11Decreased central vision (HP:0007663)6.48149441
12Severe visual impairment (HP:0001141)5.52283364
13Vitreoretinal degeneration (HP:0000655)5.50614323
14Photophobia (HP:0000613)5.47611199
15Keratoconus (HP:0000563)5.33875567
16Increased corneal curvature (HP:0100692)5.33875567
17Type II diabetes mellitus (HP:0005978)5.20026628
18Cone-rod dystrophy (HP:0000548)4.89541383
19Posterior subcapsular cataract (HP:0007787)4.87432781
20Macular degeneration (HP:0000608)4.84753001
21Colitis (HP:0002583)4.59313242
22Constricted visual fields (HP:0001133)4.52585068
23Retinitis pigmentosa (HP:0000510)4.21424508
24Choroideremia (HP:0001139)4.14126151
25IgM deficiency (HP:0002850)4.11341135
26Papillary thyroid carcinoma (HP:0002895)4.02746647
27Subacute progressive viral hepatitis (HP:0006572)3.93333803
28IgA deficiency (HP:0002720)3.50521815
29Osteolytic defects of the phalanges of the hand (HP:0009771)3.28897875
30Osteolytic defects of the hand bones (HP:0009699)3.28897875
31Thyroiditis (HP:0100646)3.20327408
32Progressive visual loss (HP:0000529)3.09839353
33Decreased electroretinogram (ERG) amplitude (HP:0000654)3.00308638
34Congenital sensorineural hearing impairment (HP:0008527)2.99866765
35Subcapsular cataract (HP:0000523)2.92031292
36Thyroid carcinoma (HP:0002890)2.81428472
37Congenital primary aphakia (HP:0007707)2.72552679
3811 pairs of ribs (HP:0000878)2.72065309
39Flat acetabular roof (HP:0003180)2.70262673
40Gait imbalance (HP:0002141)2.70227204
41Short chin (HP:0000331)2.64214579
42Broad ribs (HP:0000885)2.63131819
43True hermaphroditism (HP:0010459)2.56736073
44Asymmetry of the thorax (HP:0001555)2.56087170
45Relative macrocephaly (HP:0004482)2.53662760
46Fair hair (HP:0002286)2.53530940
47Abnormality of the distal phalanx of the thumb (HP:0009617)2.51713999
48Optic disc pallor (HP:0000543)2.49542736
49Nephrogenic diabetes insipidus (HP:0009806)2.48977839
50Missing ribs (HP:0000921)2.46903587
51Overgrowth (HP:0001548)2.46071550
52Short nail (HP:0001799)2.45844793
53Ankyloglossia (HP:0010296)2.44696841
54Sandal gap (HP:0001852)2.43587590
55Vertebral arch anomaly (HP:0008438)2.43049100
56Elfin facies (HP:0004428)2.41484511
57Arterial tortuosity (HP:0005116)2.39889047
58Dysmetric saccades (HP:0000641)2.39071442
59Medial flaring of the eyebrow (HP:0010747)2.38818937
60Insidious onset (HP:0003587)2.37971381
61Termporal pattern (HP:0011008)2.37971381
62Retinal atrophy (HP:0001105)2.35911683
63Inflammation of the large intestine (HP:0002037)2.31827870
64Wide nasal bridge (HP:0000431)2.30610072
65Pancreatic fibrosis (HP:0100732)2.26303328
66Abnormality of oral frenula (HP:0000190)2.25241006
67Neonatal hypoglycemia (HP:0001998)2.25054743
68Micronodular cirrhosis (HP:0001413)2.24815959
69Tetraparesis (HP:0002273)2.23420722
70Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.23071013
71Generalized hypopigmentation of hair (HP:0011358)2.20102100
72Viral hepatitis (HP:0006562)2.16364166
73Deep philtrum (HP:0002002)2.14406626
74Poor coordination (HP:0002370)2.12215728
75Renovascular hypertension (HP:0100817)2.11210859
76Medulloblastoma (HP:0002885)2.10922828
77Heterotopia (HP:0002282)2.09111213
78Spinal cord compression (HP:0002176)2.08743638
79Pulmonic stenosis (HP:0001642)2.07152102
80Aortic dissection (HP:0002647)2.04901664
81Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.02493514
82Short 4th metacarpal (HP:0010044)2.02493514
83Congenital stationary night blindness (HP:0007642)12.9385935
84Bony spicule pigmentary retinopathy (HP:0007737)10.6898932
85Absent rod-and cone-mediated responses on ERG (HP:0007688)10.3168402
86Gastrointestinal inflammation (HP:0004386)1.99260051
87Aortic aneurysm (HP:0004942)1.99216329
88Acute myeloid leukemia (HP:0004808)1.98986299
89Abnormal foot bone ossification (HP:0010675)1.98947830
90Wormian bones (HP:0002645)1.98824069
91Large earlobe (HP:0009748)1.98654991
92Absent frontal sinuses (HP:0002688)1.97290693
93Short humerus (HP:0005792)1.97200311
94Cystic liver disease (HP:0006706)1.95085154
95Blue irides (HP:0000635)1.94453699
96Cellulitis (HP:0100658)1.93848483
97Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.93288763
98Astrocytoma (HP:0009592)1.90203063
99Abnormality of the astrocytes (HP:0100707)1.90203063
100Germ cell neoplasia (HP:0100728)1.88870049
101Persistence of primary teeth (HP:0006335)1.88764903
102Abnormal ossification of hand bones (HP:0005921)1.86843569
103Mitral stenosis (HP:0001718)1.85755155
104Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.84149686
105Vascular tortuosity (HP:0004948)1.83922608
106Pancreatic cysts (HP:0001737)1.82717015
107Difficulty running (HP:0009046)1.82323052
108Hypoplasia of the iris (HP:0007676)1.81709337
109Vaginal atresia (HP:0000148)1.80617191
110Fibular aplasia (HP:0002990)1.80591471
111Syringomyelia (HP:0003396)1.80580810
112Spinal cord lesions (HP:0100561)1.80580810
113Neoplasm of the small intestine (HP:0100833)1.78820224
114Thin bony cortex (HP:0002753)1.77448128
115Menstrual irregularities (HP:0000858)1.77072573
116Mitral valve prolapse (HP:0001634)1.74769513
117Malignant gastrointestinal tract tumors (HP:0006749)1.74127775
118Gastrointestinal carcinoma (HP:0002672)1.74127775
119Short metatarsal (HP:0010743)1.73417998
120Genital tract atresia (HP:0001827)1.72763833
121Aplasia/Hypoplasia of metatarsal bones (HP:0001964)1.71737590
122Hypopigmentation of the fundus (HP:0007894)1.70292571
123Atrophic scars (HP:0001075)1.69941270
124Thoracolumbar scoliosis (HP:0002944)1.68384068
125Aplasia/Hypoplasia of the tongue (HP:0010295)1.67898101
126Spastic diplegia (HP:0001264)1.67751354
127Cubitus valgus (HP:0002967)1.66490091
128Aplasia/Hypoplasia of the lens (HP:0008063)1.66392423
129Abnormal glucose tolerance (HP:0001952)1.65794521
130Hyperventilation (HP:0002883)1.65549290
131Abnormality of the proximal phalanges of the hand (HP:0009834)1.65366090
132Aplasia/hypoplasia of the humerus (HP:0006507)1.64140737
133Curly hair (HP:0002212)1.63865176
134Interstitial pulmonary disease (HP:0006530)1.63689882
135Open mouth (HP:0000194)1.63421066
136Hyperacusis (HP:0010780)1.63114387
137Horizontal nystagmus (HP:0000666)1.62663959
138Abnormal hand bone ossification (HP:0010660)1.61631555
139Distal lower limb amyotrophy (HP:0008944)1.60505833
140Selective tooth agenesis (HP:0001592)1.59792431
141Flat face (HP:0012368)1.59539810
142Rectal prolapse (HP:0002035)1.58823691
143Abnormality of the epiphyses of the hand (HP:0005924)1.58153936
144Neoplasm of the peripheral nervous system (HP:0100007)1.57873552
145Optic atrophy (HP:0000648)1.56903700
146Hypoplasia of the fovea (HP:0007750)1.56375368
147Aplasia/Hypoplasia of the fovea (HP:0008060)1.56375368
148Lower limb amyotrophy (HP:0007210)1.56299620
149Febrile seizures (HP:0002373)1.55814583
150Astigmatism (HP:0000483)1.48995086
151Severe Myopia (HP:0011003)1.43709466
152Abnormality of the fovea (HP:0000493)1.40434485
153Polar cataract (HP:0010696)1.36251609
154Sclerocornea (HP:0000647)1.33556103
155Chorioretinal coloboma (HP:0000567)1.33089547
156Dysdiadochokinesis (HP:0002075)1.29873484
157Broad foot (HP:0001769)1.22160253
158Albinism (HP:0001022)1.20499498
159Septo-optic dysplasia (HP:0100842)1.20436281
160Neoplasm of the adrenal cortex (HP:0100641)1.18696764
161Furrowed tongue (HP:0000221)1.17724658
162Anencephaly (HP:0002323)1.16120113
163Abnormality of midbrain morphology (HP:0002418)1.13973335
164Molar tooth sign on MRI (HP:0002419)1.13973335
165Epileptic encephalopathy (HP:0200134)1.13341055
166Postaxial foot polydactyly (HP:0001830)1.12062323
167Renal cortical cysts (HP:0000803)1.09518283
168Congenital hepatic fibrosis (HP:0002612)1.08410561
169Progressive cerebellar ataxia (HP:0002073)1.06067597
170Aplasia/Hypoplasia of the macula (HP:0008059)1.05418108
171Left ventricular hypertrophy (HP:0001712)1.05395204
172Scanning speech (HP:0002168)1.04735668
173Decreased testicular size (HP:0008734)1.04341833
174Specific learning disability (HP:0001328)1.03524394
175Nephronophthisis (HP:0000090)0.98753971
176Asthma (HP:0002099)0.94638827
177Chronic hepatic failure (HP:0100626)0.94426772
178Retinal detachment (HP:0000541)0.93252863
179Recurrent sinusitis (HP:0011108)0.93119469
180Preaxial hand polydactyly (HP:0001177)0.92533971
181Genetic anticipation (HP:0003743)0.90915603
182Male pseudohermaphroditism (HP:0000037)0.90643080
183Abnormality of the fingertips (HP:0001211)0.89280835
184Short foot (HP:0001773)0.88605055
185Stomach cancer (HP:0012126)0.87900416
186Postaxial hand polydactyly (HP:0001162)0.86566813
187Aplasia/Hypoplasia affecting the retina (HP:0008061)0.83177251
188Hypermetropia (HP:0000540)0.82314769
189Abnormality of the renal medulla (HP:0100957)0.81408683
190Abnormality of the renal cortex (HP:0011035)0.78925241
191Anophthalmia (HP:0000528)0.78525795
192Truncal ataxia (HP:0002078)0.76890042
193Abnormality of the nasal septum (HP:0000419)0.75510608
194Aganglionic megacolon (HP:0002251)0.73750945
195Gaze-evoked nystagmus (HP:0000640)0.72796463
196Chromosomal breakage induced by crosslinking agents (HP:0003221)0.72072178
197Lymphopenia (HP:0001888)0.70325480

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK18.63131623
2PBK5.77436933
3TLK15.26448344
4ZAK3.33049555
5SCYL23.31203496
6PINK13.16478508
7MST1R2.85300606
8TRIB32.73955665
9IRAK22.49078911
10EEF2K2.41074409
11PRPF4B2.18496124
12AKT32.08786880
13MET2.08309198
14TTN2.07340418
15ERBB31.77904557
16PIK3CG1.71165741
17SGK21.67826954
18MAP3K21.67453479
19SIK31.67330553
20VRK11.62106240
21NUAK11.61828897
22PDGFRA1.61697021
23BRD41.56345893
24CCNB11.48523062
25TTK1.46367164
26PRKCH1.46216625
27SGK2231.45878246
28SGK4941.45878246
29MAPK71.42333177
30CASK1.41201210
31BMPR21.38880084
32RET1.37507281
33RPS6KB21.34601789
34BMPR1B1.34563559
35LATS11.33926242
36NEK91.30105543
37PKN21.28036740
38CDK31.24771272
39IRAK31.23705725
40TAOK31.23510970
41DAPK31.20931503
42PLK31.20926046
43TRPM71.19464370
44PLK21.14608347
45ADRBK11.12728285
46CDK61.12515849
47STK41.11602191
48SGK31.11248080
49TXK1.10698519
50CAMKK21.09230249
51MAP3K61.08515668
52MAP2K71.03652334
53INSRR0.99795383
54NME20.98660520
55SIK20.98392930
56MAP2K40.97351686
57MAP3K140.96071363
58NEK60.92823702
59ADRBK20.92637571
60PDGFRB0.91345839
61PIM10.90246427
62MELK0.90024380
63MARK10.89693703
64HIPK20.87549547
65BTK0.86475791
66CAMK1D0.85983466
67MKNK20.85919444
68YES10.85635285
69ACVR1B0.84975828
70BRSK20.82127597
71LMTK20.82085326
72ILK0.81705619
73FER0.81471948
74PRKD30.81061154
75MAPK120.80827477
76EPHA20.80717867
77PLK40.80284779
78CHUK0.80260046
79ATR0.77341916
80FRK0.76266465
81MKNK10.76033732
82AURKB0.75486363
83SRPK10.73517748
84BLK0.72447509
85CHEK20.70428288
86EPHA30.70217169
87CDK120.69461494
88RPS6KA40.69168226
89PIK3CA0.68972734
90CSNK1D0.68847170
91CDK90.67998089
92ERBB20.67811823
93JAK10.67672908
94ICK0.66926211
95MAPK110.65195281
96TGFBR20.64038224
97STK390.64005632
98IRAK10.63546647
99PKN10.62566957
100DYRK1A0.60621539
101CAMK2D0.59969586
102CDK80.59927608
103PRKCB0.58398610
104ERBB40.56021547
105TNIK0.53999446
106IRAK40.53630665
107PRKAA20.51905472
108AURKA0.51775137
109PAK60.51412439
110EIF2AK20.50818325
111FGFR40.50552757
112PRKCZ0.49738467
113CSNK1A1L0.49517150
114STK380.49313025
115RPS6KB10.49267215
116PAK40.48464123
117STK38L0.47911429
118NEK20.47133720
119MTOR0.46881674
120FLT30.46702504
121NLK0.46427262
122TNK20.45998663
123SGK10.45908923
124GSK3B0.45622388
125FGFR30.45025095
126MAPK140.44924231
127CDK10.44815779
128BCR0.44587547
129JAK20.43356792
130MUSK0.43174110
131PRKAA10.42675109
132MAP3K120.40105858
133TIE10.40065699
134CAMK40.39865442
135MAP3K40.39811973
136ATM0.39536931
137RAF10.39341671
138STK240.39121077
139EGFR0.38456999
140CSNK1G10.37932409
141PRKACA0.36573227
142IKBKB0.36511774
143CDC70.36480393
144NTRK10.36327652
145PRKACG0.35912509
146KSR10.35856834
147RPS6KA30.35572425
148PTK20.34987850
149MARK20.34967325
150OBSCN0.34964050
151TEC0.34521834
152EIF2AK30.34421849
153RPS6KA50.33527736
154PRKDC0.32795432
155ALK0.32794546
156TAOK20.32535317
157CAMK10.32399127
158CAMK1G0.32137442
159MAP3K100.32092767
160FES0.32049193
161CAMK2A0.31845027
162PLK10.30623590
163GRK50.30552226
164STK30.29415375
165WNK10.29176934
166PRKCE0.28789556

Predicted pathways (KEGG)

RankGene SetZ-score
1Systemic lupus erythematosus_Homo sapiens_hsa053228.04770181
2Viral carcinogenesis_Homo sapiens_hsa052032.69659034
3Phototransduction_Homo sapiens_hsa0474415.6740310
4Non-small cell lung cancer_Homo sapiens_hsa052231.87332144
5Small cell lung cancer_Homo sapiens_hsa052221.79527270
6Glioma_Homo sapiens_hsa052141.75320016
7Synaptic vesicle cycle_Homo sapiens_hsa047211.70495126
8Pancreatic cancer_Homo sapiens_hsa052121.68556435
9Chronic myeloid leukemia_Homo sapiens_hsa052201.54213351
10Olfactory transduction_Homo sapiens_hsa047401.54119066
11AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.50084223
12ErbB signaling pathway_Homo sapiens_hsa040121.42594056
13Focal adhesion_Homo sapiens_hsa045101.38768298
14Adherens junction_Homo sapiens_hsa045201.33167469
15MicroRNAs in cancer_Homo sapiens_hsa052061.30587077
16Proteoglycans in cancer_Homo sapiens_hsa052051.30398123
17Colorectal cancer_Homo sapiens_hsa052101.29568679
18ECM-receptor interaction_Homo sapiens_hsa045121.28412569
19Transcriptional misregulation in cancer_Homo sapiens_hsa052021.22790075
20Endometrial cancer_Homo sapiens_hsa052131.19564241
21Central carbon metabolism in cancer_Homo sapiens_hsa052301.16799650
22Thyroid cancer_Homo sapiens_hsa052161.15568494
23GABAergic synapse_Homo sapiens_hsa047271.15533776
24Prolactin signaling pathway_Homo sapiens_hsa049171.09223624
25Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.07972192
26Morphine addiction_Homo sapiens_hsa050321.04140267
27Circadian rhythm_Homo sapiens_hsa047100.94281038
28Neurotrophin signaling pathway_Homo sapiens_hsa047220.92712364
29Fatty acid biosynthesis_Homo sapiens_hsa000610.91243668
30Renal cell carcinoma_Homo sapiens_hsa052110.90909877
31Platelet activation_Homo sapiens_hsa046110.90640424
32Melanoma_Homo sapiens_hsa052180.89483329
33VEGF signaling pathway_Homo sapiens_hsa043700.87300846
34Retinol metabolism_Homo sapiens_hsa008300.85456746
35Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85339495
36B cell receptor signaling pathway_Homo sapiens_hsa046620.85096576
37Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.83427988
38Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83377437
39Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.83151998
40Cholinergic synapse_Homo sapiens_hsa047250.83016475
41Serotonergic synapse_Homo sapiens_hsa047260.80971016
42Purine metabolism_Homo sapiens_hsa002300.79157580
43p53 signaling pathway_Homo sapiens_hsa041150.76867291
44Circadian entrainment_Homo sapiens_hsa047130.75977169
45Glutamatergic synapse_Homo sapiens_hsa047240.74305266
46Prostate cancer_Homo sapiens_hsa052150.74244557
47TGF-beta signaling pathway_Homo sapiens_hsa043500.73936248
48Leukocyte transendothelial migration_Homo sapiens_hsa046700.73769736
49Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73182083
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72468539
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.72008738
52Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.71520031
53Pathways in cancer_Homo sapiens_hsa052000.70787199
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.70344481
55Arginine biosynthesis_Homo sapiens_hsa002200.70079499
56Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.69037838
57Adipocytokine signaling pathway_Homo sapiens_hsa049200.68767804
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.68369200
59FoxO signaling pathway_Homo sapiens_hsa040680.67531102
60SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67315148
61Steroid hormone biosynthesis_Homo sapiens_hsa001400.67213553
62Longevity regulating pathway - mammal_Homo sapiens_hsa042110.65656135
63Acute myeloid leukemia_Homo sapiens_hsa052210.64794782
64ABC transporters_Homo sapiens_hsa020100.61583422
65Nicotine addiction_Homo sapiens_hsa050330.60874605
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59818275
67Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.59747897
68Dopaminergic synapse_Homo sapiens_hsa047280.59471125
69Insulin signaling pathway_Homo sapiens_hsa049100.58697768
70Renin-angiotensin system_Homo sapiens_hsa046140.58262311
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.54979808
72Insulin secretion_Homo sapiens_hsa049110.54966763
73Sphingolipid signaling pathway_Homo sapiens_hsa040710.54688450
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53829450
75Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52822868
76Collecting duct acid secretion_Homo sapiens_hsa049660.52434814
77GnRH signaling pathway_Homo sapiens_hsa049120.51631785
78Hepatitis B_Homo sapiens_hsa051610.51136308
79Type II diabetes mellitus_Homo sapiens_hsa049300.51108467
80Toxoplasmosis_Homo sapiens_hsa051450.50447846
81Apoptosis_Homo sapiens_hsa042100.50315391
82Tight junction_Homo sapiens_hsa045300.49354402
83Insulin resistance_Homo sapiens_hsa049310.49133902
84Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.49043844
85Regulation of actin cytoskeleton_Homo sapiens_hsa048100.48579324
86Protein digestion and absorption_Homo sapiens_hsa049740.48317307
87Inositol phosphate metabolism_Homo sapiens_hsa005620.46935836
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46929092
89Bladder cancer_Homo sapiens_hsa052190.46220014
90Gap junction_Homo sapiens_hsa045400.43978869
91Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42997971
92Amoebiasis_Homo sapiens_hsa051460.41817751
93Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.41306340
94Jak-STAT signaling pathway_Homo sapiens_hsa046300.40090744
95Base excision repair_Homo sapiens_hsa034100.39362791
96cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39340266
97Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.39282442
98Pentose phosphate pathway_Homo sapiens_hsa000300.39069984
99Vitamin B6 metabolism_Homo sapiens_hsa007500.38668218
100PI3K-Akt signaling pathway_Homo sapiens_hsa041510.37940229
101Fanconi anemia pathway_Homo sapiens_hsa034600.37385426
102Fructose and mannose metabolism_Homo sapiens_hsa000510.36565459
103Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36560048
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.36373635
105mRNA surveillance pathway_Homo sapiens_hsa030150.36248372
106Chemokine signaling pathway_Homo sapiens_hsa040620.35734467
107Rap1 signaling pathway_Homo sapiens_hsa040150.35474283
108Basal transcription factors_Homo sapiens_hsa030220.35403723
109Non-homologous end-joining_Homo sapiens_hsa034500.35240269
110Hepatitis C_Homo sapiens_hsa051600.34968700
111TNF signaling pathway_Homo sapiens_hsa046680.34337731
112Rheumatoid arthritis_Homo sapiens_hsa053230.34264085
113Starch and sucrose metabolism_Homo sapiens_hsa005000.33856671
114Dorso-ventral axis formation_Homo sapiens_hsa043200.32514439
115Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32200692
116RNA degradation_Homo sapiens_hsa030180.31382187
117Axon guidance_Homo sapiens_hsa043600.29964235
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.29851569
119cAMP signaling pathway_Homo sapiens_hsa040240.28810983
120Vibrio cholerae infection_Homo sapiens_hsa051100.26514928
121Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25801250
122Arachidonic acid metabolism_Homo sapiens_hsa005900.24989345
123Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24866187
124Regulation of autophagy_Homo sapiens_hsa041400.24257314
125Oxytocin signaling pathway_Homo sapiens_hsa049210.24213780
126Graft-versus-host disease_Homo sapiens_hsa053320.24010005
127Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.22601350
128Phagosome_Homo sapiens_hsa041450.22173434
129Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.22075127
130Alcoholism_Homo sapiens_hsa050340.21646815
131Cocaine addiction_Homo sapiens_hsa050300.21174739
132Autoimmune thyroid disease_Homo sapiens_hsa053200.21169131
133Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.20798607
134Lysine degradation_Homo sapiens_hsa003100.20771925
135Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.19799698
136Ras signaling pathway_Homo sapiens_hsa040140.19092125
137Ovarian steroidogenesis_Homo sapiens_hsa049130.18889019
138Calcium signaling pathway_Homo sapiens_hsa040200.18325916
139Type I diabetes mellitus_Homo sapiens_hsa049400.18050514
140Allograft rejection_Homo sapiens_hsa053300.16951990
141Salivary secretion_Homo sapiens_hsa049700.16361070
142Taste transduction_Homo sapiens_hsa047420.15598720
143Lysosome_Homo sapiens_hsa041420.15579800
144Glycerolipid metabolism_Homo sapiens_hsa005610.15565546
145Homologous recombination_Homo sapiens_hsa034400.15152214
146Mineral absorption_Homo sapiens_hsa049780.15117790
147Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.15078878
148Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.14841232
149Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.14578780
150Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.14548865
151Nucleotide excision repair_Homo sapiens_hsa034200.14418601
152Drug metabolism - other enzymes_Homo sapiens_hsa009830.14398959
153alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.14000222
154Dilated cardiomyopathy_Homo sapiens_hsa054140.13425825
155Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.12938041
156Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.12831072
157Linoleic acid metabolism_Homo sapiens_hsa005910.11272215
158Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.10867597
159Maturity onset diabetes of the young_Homo sapiens_hsa049500.10795834
160Intestinal immune network for IgA production_Homo sapiens_hsa046720.10404380
161NF-kappa B signaling pathway_Homo sapiens_hsa040640.10383788
162HIF-1 signaling pathway_Homo sapiens_hsa040660.10033724
163Choline metabolism in cancer_Homo sapiens_hsa052310.10007240
164Galactose metabolism_Homo sapiens_hsa000520.09816230
165Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.09792441
166MAPK signaling pathway_Homo sapiens_hsa040100.09381070
167NOD-like receptor signaling pathway_Homo sapiens_hsa046210.09344915
168Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.09190321
169Notch signaling pathway_Homo sapiens_hsa043300.09163734
170Hippo signaling pathway_Homo sapiens_hsa043900.09143743
171Tuberculosis_Homo sapiens_hsa051520.08938143
172Ether lipid metabolism_Homo sapiens_hsa005650.08693662
173Cell cycle_Homo sapiens_hsa041100.08473430
174RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.08262560
175Fatty acid elongation_Homo sapiens_hsa000620.08236378
176Herpes simplex infection_Homo sapiens_hsa051680.08224556
177Wnt signaling pathway_Homo sapiens_hsa043100.07594626
178mTOR signaling pathway_Homo sapiens_hsa041500.06941336

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