OPTC

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: Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1chromatin remodeling at centromere (GO:0031055)5.66529257
2CENP-A containing nucleosome assembly (GO:0034080)5.50397690
3chaperone-mediated protein transport (GO:0072321)5.20786606
4vitamin A metabolic process (GO:0006776)5.18879059
5mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.07095156
6establishment of integrated proviral latency (GO:0075713)4.99026192
7regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.89323445
8regulation of mitotic spindle checkpoint (GO:1903504)4.89323445
9detection of light stimulus involved in sensory perception (GO:0050962)4.79260708
10detection of light stimulus involved in visual perception (GO:0050908)4.79260708
11histone exchange (GO:0043486)4.77856307
12response to pheromone (GO:0019236)4.56887484
13establishment of protein localization to mitochondrial membrane (GO:0090151)4.39068808
14positive regulation of systemic arterial blood pressure (GO:0003084)4.35936409
15L-serine metabolic process (GO:0006563)4.34920330
16DNA replication-independent nucleosome assembly (GO:0006336)4.32970821
17DNA replication-independent nucleosome organization (GO:0034724)4.32970821
18protein-chromophore linkage (GO:0018298)4.30323163
19regulation of helicase activity (GO:0051095)4.18326895
20transcription elongation from RNA polymerase III promoter (GO:0006385)4.17244844
21termination of RNA polymerase III transcription (GO:0006386)4.17244844
22ATP synthesis coupled proton transport (GO:0015986)4.15320316
23energy coupled proton transport, down electrochemical gradient (GO:0015985)4.15320316
24mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.07051537
25regulation of nuclear cell cycle DNA replication (GO:0033262)4.03655559
26DNA replication checkpoint (GO:0000076)3.96446920
27rhodopsin mediated signaling pathway (GO:0016056)3.95422793
28negative regulation of DNA-dependent DNA replication (GO:2000104)3.90647280
29proteasome assembly (GO:0043248)3.90493585
30retinal rod cell development (GO:0046548)3.87771667
31regulation of rhodopsin mediated signaling pathway (GO:0022400)3.86490917
32exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.83306832
33heterochromatin organization (GO:0070828)3.78301202
34nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.72952334
35interferon-gamma production (GO:0032609)3.66838282
36startle response (GO:0001964)3.64788066
37respiratory electron transport chain (GO:0022904)3.63409201
38purine nucleobase biosynthetic process (GO:0009113)3.62262790
39photoreceptor cell development (GO:0042461)3.60968961
40establishment of viral latency (GO:0019043)3.58284073
41kinetochore assembly (GO:0051382)3.58218711
42G-protein coupled receptor internalization (GO:0002031)3.57987742
43telomere maintenance via semi-conservative replication (GO:0032201)3.53175049
44mitotic metaphase plate congression (GO:0007080)3.52516126
45electron transport chain (GO:0022900)3.51742149
46nucleobase biosynthetic process (GO:0046112)3.51542620
47negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.51142002
48negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.51142002
49negative regulation of mitotic sister chromatid segregation (GO:0033048)3.51142002
50negative regulation of mitotic sister chromatid separation (GO:2000816)3.51142002
51negative regulation of sister chromatid segregation (GO:0033046)3.51142002
52DNA strand elongation involved in DNA replication (GO:0006271)3.49844317
53eye photoreceptor cell development (GO:0042462)3.48652460
54DNA replication-dependent nucleosome organization (GO:0034723)3.46150439
55DNA replication-dependent nucleosome assembly (GO:0006335)3.46150439
56spliceosomal snRNP assembly (GO:0000387)3.44556050
57spliceosomal complex assembly (GO:0000245)3.44113402
58photoreceptor cell maintenance (GO:0045494)3.43321742
59DNA double-strand break processing (GO:0000729)3.41761362
60negative regulation of chromosome segregation (GO:0051985)3.41175207
61serotonin receptor signaling pathway (GO:0007210)3.38442321
62behavioral response to nicotine (GO:0035095)3.38339353
63DNA strand elongation (GO:0022616)3.35686029
64daunorubicin metabolic process (GO:0044597)3.34757515
65polyketide metabolic process (GO:0030638)3.34757515
66doxorubicin metabolic process (GO:0044598)3.34757515
67negative regulation of telomerase activity (GO:0051974)3.34136168
68water-soluble vitamin biosynthetic process (GO:0042364)3.33303103
69protein neddylation (GO:0045116)3.32637503
70auditory behavior (GO:0031223)3.32559384
71kinetochore organization (GO:0051383)3.31226945
72regulation of posttranscriptional gene silencing (GO:0060147)3.23268570
73regulation of gene silencing by miRNA (GO:0060964)3.23268570
74regulation of gene silencing by RNA (GO:0060966)3.23268570
75histone mRNA metabolic process (GO:0008334)3.22982660
76histone H3-K4 trimethylation (GO:0080182)3.22306352
77metaphase plate congression (GO:0051310)3.21576600
78protein localization to kinetochore (GO:0034501)3.18091161
79postsynaptic membrane organization (GO:0001941)3.15425987
80regulation of mesoderm development (GO:2000380)3.14998238
81negative regulation of keratinocyte proliferation (GO:0010839)3.14237196
82G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.13014125
83mesenchymal cell differentiation involved in kidney development (GO:0072161)3.11839586
84mesenchymal cell differentiation involved in renal system development (GO:2001012)3.11839586
85dentate gyrus development (GO:0021542)3.10966206
86negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.10666845
87negative regulation of synaptic transmission, GABAergic (GO:0032229)3.10655847
88somatic hypermutation of immunoglobulin genes (GO:0016446)3.08604999
89somatic diversification of immune receptors via somatic mutation (GO:0002566)3.08604999
90regulation of somitogenesis (GO:0014807)3.06755544
91cell differentiation involved in metanephros development (GO:0072202)3.06742622
92negative regulation of mast cell activation (GO:0033004)3.06733596
93respiratory chain complex IV assembly (GO:0008535)3.05819155
94regulation of telomere maintenance via telomerase (GO:0032210)3.04772878
95sensory perception of light stimulus (GO:0050953)3.04223003
96visual perception (GO:0007601)3.04082823
97regulation of cell fate specification (GO:0042659)3.03794796
98sequestering of extracellular ligand from receptor (GO:0035581)3.03644926
99pseudouridine synthesis (GO:0001522)3.02615343
100spindle checkpoint (GO:0031577)3.02022154
101presynaptic membrane assembly (GO:0097105)3.01733393
102mitotic recombination (GO:0006312)2.99224859
103sympathetic nervous system development (GO:0048485)2.98883104
104mitotic spindle checkpoint (GO:0071174)2.98395333
105DNA catabolic process, exonucleolytic (GO:0000738)2.97921628
106telomere maintenance via recombination (GO:0000722)2.97857060
107glomerulus development (GO:0032835)2.96693798
108extracellular regulation of signal transduction (GO:1900115)2.96526334
109extracellular negative regulation of signal transduction (GO:1900116)2.96526334
110telomere maintenance via telomere lengthening (GO:0010833)2.95680955
111response to X-ray (GO:0010165)2.95239353
112chromatin assembly or disassembly (GO:0006333)2.93938899
113serine family amino acid biosynthetic process (GO:0009070)2.93569333
114ganglion development (GO:0061548)2.93416809
115rRNA modification (GO:0000154)2.92506087
116response to auditory stimulus (GO:0010996)2.92072680
117vocalization behavior (GO:0071625)2.91677444
118ATP-dependent chromatin remodeling (GO:0043044)2.91157194
119G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.89156645
120telomere maintenance via telomerase (GO:0007004)2.88463292
121regulation of mitotic sister chromatid separation (GO:0010965)2.88364303
122regulation of mitotic sister chromatid segregation (GO:0033047)2.88364303
123regulation of sister chromatid segregation (GO:0033045)2.88364303
124cranial nerve structural organization (GO:0021604)2.87957207
125IMP metabolic process (GO:0046040)2.87561537
126regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.87095283
127regulation of mitotic metaphase/anaphase transition (GO:0030071)2.87095283
128hyperosmotic salinity response (GO:0042538)2.86760538
129facial nerve structural organization (GO:0021612)2.86709463
130mitotic spindle assembly checkpoint (GO:0007094)2.86278764
131regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.85693842
132detection of molecule of bacterial origin (GO:0032490)2.84337316
133regulation of urine volume (GO:0035809)2.84289961
134viral mRNA export from host cell nucleus (GO:0046784)2.84113729
135IMP biosynthetic process (GO:0006188)2.82273309
136phototransduction (GO:0007602)2.82271938
137regulation of mitochondrial translation (GO:0070129)2.81607106
138mechanosensory behavior (GO:0007638)2.80773731
139detection of light stimulus (GO:0009583)2.80707446
140negative regulation of ligase activity (GO:0051352)2.80474078
141negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.80474078
142cytochrome complex assembly (GO:0017004)2.80247425
143superoxide anion generation (GO:0042554)2.78837924
144paraxial mesoderm development (GO:0048339)2.78643403
145spindle assembly checkpoint (GO:0071173)2.78230356
146DNA-templated transcription, termination (GO:0006353)2.78152932
147ribosomal small subunit assembly (GO:0000028)2.77219667
148negative regulation of mitosis (GO:0045839)2.75970286
149lens development in camera-type eye (GO:0002088)2.74686737
150detection of visible light (GO:0009584)2.74641752
151pre-miRNA processing (GO:0031054)2.73883485
152presynaptic membrane organization (GO:0097090)2.73715276
153cell morphogenesis involved in neuron differentiation (GO:0048667)2.72783799
154protein localization to synapse (GO:0035418)2.71960003
155regulation of timing of cell differentiation (GO:0048505)2.71637219
156reflex (GO:0060004)2.70827696
157spinal cord association neuron differentiation (GO:0021527)2.67736729
158mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.65800536
159retina layer formation (GO:0010842)2.65629411
160mesenchymal cell differentiation (GO:0048762)2.64679252
161phototransduction, visible light (GO:0007603)2.63623237
162regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.63277496
163eye photoreceptor cell differentiation (GO:0001754)2.61969207
164photoreceptor cell differentiation (GO:0046530)2.61969207
165cell differentiation involved in kidney development (GO:0061005)2.56119939
166negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.56031704
167positive regulation of heat generation (GO:0031652)2.55191794
168retinal cone cell development (GO:0046549)2.52068587
169forelimb morphogenesis (GO:0035136)2.51664415
170histone H3-K36 demethylation (GO:0070544)2.50210791
171righting reflex (GO:0060013)2.46725536
172mesonephros development (GO:0001823)2.45037600
173positive regulation of neurotransmitter secretion (GO:0001956)2.43675701
174primitive streak formation (GO:0090009)2.42206148
175positive regulation of uterine smooth muscle contraction (GO:0070474)2.41405627
176tonic smooth muscle contraction (GO:0014820)2.41363951
177embryonic forelimb morphogenesis (GO:0035115)2.39709341
178regulation of development, heterochronic (GO:0040034)2.39270158
179neurotransmitter-gated ion channel clustering (GO:0072578)2.39097161
180protein K11-linked deubiquitination (GO:0035871)2.38948409
181inner ear receptor stereocilium organization (GO:0060122)2.37141506
182smooth muscle contraction (GO:0006939)2.36570456
183atrial cardiac muscle cell action potential (GO:0086014)2.36279143
184purinergic nucleotide receptor signaling pathway (GO:0035590)2.35074031
185retinal metabolic process (GO:0042574)2.34975077
186retina development in camera-type eye (GO:0060041)2.34771861
187neural tube formation (GO:0001841)2.34258187
188negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.32151925
189lens fiber cell differentiation (GO:0070306)2.32045351
190regulation of interleukin-8 secretion (GO:2000482)2.31252532
191melanin metabolic process (GO:0006582)2.30439584
192peripheral nervous system neuron development (GO:0048935)2.29802043
193nonmotile primary cilium assembly (GO:0035058)2.26959525
194behavioral response to ethanol (GO:0048149)2.26158148
195GMP metabolic process (GO:0046037)2.24808590
196cellular anion homeostasis (GO:0030002)2.24790055
197synaptic vesicle endocytosis (GO:0048488)2.23134471
198lateral ventricle development (GO:0021670)2.21975220
199appendage development (GO:0048736)2.21284874
200limb development (GO:0060173)2.21284874

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.34878689
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.14661327
3GBX2_23144817_ChIP-Seq_PC3_Human4.12025720
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.90725552
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.57799752
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.33034558
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.25945100
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.25452155
9GABP_17652178_ChIP-ChIP_JURKAT_Human3.24519611
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.03835858
11EZH2_22144423_ChIP-Seq_EOC_Human3.01521379
12FOXM1_23109430_ChIP-Seq_U2OS_Human2.82205768
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.63187099
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.57400802
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.52912300
16SMAD_19615063_ChIP-ChIP_OVARY_Human2.45651604
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.42929234
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.42737534
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.41850328
20ELK1_19687146_ChIP-ChIP_HELA_Human2.37257202
21NANOG_16153702_ChIP-ChIP_HESCs_Human2.36658850
22JARID2_20064375_ChIP-Seq_MESCs_Mouse2.32955930
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.28050861
24HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.27699541
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.26073848
26SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.25963289
27SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.25610309
28EZH2_27304074_Chip-Seq_ESCs_Mouse2.25258437
29BP1_19119308_ChIP-ChIP_Hs578T_Human2.25041865
30SOX2_16153702_ChIP-ChIP_HESCs_Human2.23279122
31SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.21234150
32ETS1_20019798_ChIP-Seq_JURKAT_Human2.11846486
33KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.11435357
34KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.11435357
35KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.11435357
36CBX2_27304074_Chip-Seq_ESCs_Mouse2.09709334
37RNF2_18974828_ChIP-Seq_MESCs_Mouse2.08924366
38EZH2_18974828_ChIP-Seq_MESCs_Mouse2.08924366
39MYC_18358816_ChIP-ChIP_MESCs_Mouse2.04790205
40SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.04072409
41BMI1_23680149_ChIP-Seq_NPCS_Mouse2.02934125
42JARID2_20075857_ChIP-Seq_MESCs_Mouse2.01870205
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.00484319
44IGF1R_20145208_ChIP-Seq_DFB_Human1.98966054
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.97536764
46FOXP3_21729870_ChIP-Seq_TREG_Human1.94568093
47SOX2_18555785_ChIP-Seq_MESCs_Mouse1.92347172
48JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.91160090
49SALL1_21062744_ChIP-ChIP_HESCs_Human1.89768151
50RNF2_27304074_Chip-Seq_ESCs_Mouse1.88942525
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.88845022
52PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.87008042
53HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.80633133
54EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.80439028
55P300_19829295_ChIP-Seq_ESCs_Human1.80352822
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.79870912
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.79591652
58* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.79141953
59POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.78179573
60NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.78153656
61TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77992734
62NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.77407090
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.77322317
64E2F1_18555785_ChIP-Seq_MESCs_Mouse1.74685183
65SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.73616452
66THAP11_20581084_ChIP-Seq_MESCs_Mouse1.73247875
67NELFA_20434984_ChIP-Seq_ESCs_Mouse1.69790126
68YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69317773
69PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.68893378
70* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.68689862
71RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.66682090
72RNF2_27304074_Chip-Seq_NSC_Mouse1.66362497
73MYC_18940864_ChIP-ChIP_HL60_Human1.66184236
74CTBP2_25329375_ChIP-Seq_LNCAP_Human1.65477503
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.65332111
76E2F1_21310950_ChIP-Seq_MCF-7_Human1.62535374
77IKZF1_21737484_ChIP-ChIP_HCT116_Human1.62240831
78MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.61689847
79* SMAD4_21799915_ChIP-Seq_A2780_Human1.60793730
80* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.60059617
81* NANOG_18555785_Chip-Seq_ESCs_Mouse1.59233383
82* NFE2_27457419_Chip-Seq_LIVER_Mouse1.59216415
83POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.58201230
84KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.57840352
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.52413917
86AR_21909140_ChIP-Seq_LNCAP_Human1.51937886
87FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.50457121
88TP53_18474530_ChIP-ChIP_U2OS_Human1.49254089
89EZH2_27294783_Chip-Seq_ESCs_Mouse1.48910867
90ZNF217_24962896_ChIP-Seq_MCF-7_Human1.48523246
91VDR_23849224_ChIP-Seq_CD4+_Human1.47899647
92* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.45957133
93PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.45713957
94TTF2_22483619_ChIP-Seq_HELA_Human1.45412128
95* TCF4_18268006_ChIP-ChIP_LS174T_Human1.45250798
96VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.44285991
97MTF2_20144788_ChIP-Seq_MESCs_Mouse1.44083260
98* E2F1_18555785_Chip-Seq_ESCs_Mouse1.43942369
99* P53_22387025_ChIP-Seq_ESCs_Mouse1.43798304
100* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.43083084
101ZNF274_21170338_ChIP-Seq_K562_Hela1.43075823
102* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.42231003
103EWS_26573619_Chip-Seq_HEK293_Human1.41383369
104AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.39979527
105* EZH2_27294783_Chip-Seq_NPCs_Mouse1.38482993
106P53_22127205_ChIP-Seq_FIBROBLAST_Human1.37765862
107* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.37249012
108MYCN_18555785_ChIP-Seq_MESCs_Mouse1.36106339
109* STAT3_18555785_Chip-Seq_ESCs_Mouse1.35850716
110MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35561577
111ER_23166858_ChIP-Seq_MCF-7_Human1.35170773
112ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.34953676
113FUS_26573619_Chip-Seq_HEK293_Human1.34262760
114SMAD3_21741376_ChIP-Seq_EPCs_Human1.34033535
115YY1_21170310_ChIP-Seq_MESCs_Mouse1.33171144
116* CMYC_18555785_Chip-Seq_ESCs_Mouse1.33025654
117ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.32485779
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.31566063
119PADI4_21655091_ChIP-ChIP_MCF-7_Human1.31107528
120TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.30650150
121POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.29697525
122TAF15_26573619_Chip-Seq_HEK293_Human1.29484635
123XRN2_22483619_ChIP-Seq_HELA_Human1.27772631
124TCF3_18692474_ChIP-Seq_MESCs_Mouse1.25875531
125POU5F1_16153702_ChIP-ChIP_HESCs_Human1.25466736
126AR_21572438_ChIP-Seq_LNCaP_Human1.25378586
127CTBP1_25329375_ChIP-Seq_LNCAP_Human1.25201182
128UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.25082011
129NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24396300
130FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.23940386
131TCF3_18692474_ChIP-Seq_MEFs_Mouse1.23803148
132CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22986815
133ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.22558115
134AR_25329375_ChIP-Seq_VCAP_Human1.22337744
135TP63_19390658_ChIP-ChIP_HaCaT_Human1.22096470
136VDR_22108803_ChIP-Seq_LS180_Human1.21614078
137* SOX2_18555785_Chip-Seq_ESCs_Mouse1.21273134
138STAT3_23295773_ChIP-Seq_U87_Human1.19461602
139TP53_16413492_ChIP-PET_HCT116_Human1.19456282
140* OCT4_18555785_Chip-Seq_ESCs_Mouse1.19144798
141TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18960110
142SRF_21415370_ChIP-Seq_HL-1_Mouse1.17985446
143* NMYC_18555785_Chip-Seq_ESCs_Mouse1.17166201
144NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.16934594
145SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.16710625
146TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13851772
147* P300_18555785_Chip-Seq_ESCs_Mouse1.12831212
148* TCF4_23295773_ChIP-Seq_U87_Human1.11954184
149* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.11856135
150* ZFX_18555785_Chip-Seq_ESCs_Mouse1.11801858
151ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.10667007
152ARNT_22903824_ChIP-Seq_MCF-7_Human1.10506173
153BCAT_22108803_ChIP-Seq_LS180_Human1.09471848
154NR3C1_23031785_ChIP-Seq_PC12_Mouse1.09411608
155SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08273002
156* RUNX2_22187159_ChIP-Seq_PCA_Human1.08245320
157CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.07640350
158SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07528083
159* ESRRB_18555785_Chip-Seq_ESCs_Mouse1.07344496
160OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07159681
161CJUN_26792858_Chip-Seq_BT549_Human1.06727620
162NANOG_18555785_ChIP-Seq_MESCs_Mouse1.05282506
163BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.04306085
164HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.03330345
165RBPJ_22232070_ChIP-Seq_NCS_Mouse1.03014399
166RING1B_27294783_Chip-Seq_NPCs_Mouse1.02526259
167TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02411192
168POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.02170641
169IRF1_19129219_ChIP-ChIP_H3396_Human1.01148674
170HOXB4_20404135_ChIP-ChIP_EML_Mouse0.96640736
171FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.96466941
172SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.94509836
173HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.94030601
174DCP1A_22483619_ChIP-Seq_HELA_Human0.90117523
175LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88455530
176GATA1_26923725_Chip-Seq_HPCs_Mouse0.84558571
177SOX2_18692474_ChIP-Seq_MEFs_Mouse0.84025966
178MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.83566002
179GABP_19822575_ChIP-Seq_HepG2_Human0.83058783
180ELK1_22589737_ChIP-Seq_MCF10A_Human0.82847934
181DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.81282811
182PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80017646
183GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.79809298
184SOX9_26525672_Chip-Seq_HEART_Mouse0.79188455
185SOX17_20123909_ChIP-Seq_XEN_Mouse0.78841325
186PHF8_20622853_ChIP-Seq_HELA_Human0.78245084
187* PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.77765073

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation5.72403533
2MP0005257_abnormal_intraocular_pressure4.29539751
3MP0010386_abnormal_urinary_bladder4.15882129
4MP0005551_abnormal_eye_electrophysiolog3.63037203
5MP0006292_abnormal_olfactory_placode3.46601918
6MP0000566_synostosis3.46102797
7MP0003693_abnormal_embryo_hatching3.31672137
8MP0008057_abnormal_DNA_replication3.16929225
9MP0010094_abnormal_chromosome_stability2.96912014
10MP0002638_abnormal_pupillary_reflex2.79631948
11MP0001188_hyperpigmentation2.78201612
12MP0005367_renal/urinary_system_phenotyp2.76797532
13MP0000516_abnormal_urinary_system2.76797532
14MP0004957_abnormal_blastocyst_morpholog2.69580838
15MP0003111_abnormal_nucleus_morphology2.64789204
16MP0008058_abnormal_DNA_repair2.54938315
17MP0005645_abnormal_hypothalamus_physiol2.54081475
18MP0008007_abnormal_cellular_replicative2.53270581
19MP0005253_abnormal_eye_physiology2.46420114
20MP0002102_abnormal_ear_morphology2.35779657
21MP0001293_anophthalmia2.26935500
22MP0005171_absent_coat_pigmentation2.22452147
23MP0003077_abnormal_cell_cycle2.22434041
24MP0003136_yellow_coat_color2.17633142
25MP0001346_abnormal_lacrimal_gland2.17418037
26MP0008932_abnormal_embryonic_tissue2.14471461
27MP0000579_abnormal_nail_morphology2.08349455
28MP0003567_abnormal_fetal_cardiomyocyte2.06046713
29MP0003787_abnormal_imprinting1.99931988
30MP0005503_abnormal_tendon_morphology1.95348862
31MP0001529_abnormal_vocalization1.90267329
32MP0009697_abnormal_copulation1.83625059
33MP0009672_abnormal_birth_weight1.82889362
34MP0003718_maternal_effect1.81667281
35MP0006072_abnormal_retinal_apoptosis1.76973071
36MP0001502_abnormal_circadian_rhythm1.76734481
37MP0008004_abnormal_stomach_pH1.75595134
38MP0001324_abnormal_eye_pigmentation1.73789764
39MP0008877_abnormal_DNA_methylation1.71932990
40MP0009379_abnormal_foot_pigmentation1.62617783
41MP0008789_abnormal_olfactory_epithelium1.55488278
42MP0000049_abnormal_middle_ear1.53176020
43MP0005197_abnormal_uvea_morphology1.49274564
44MP0005646_abnormal_pituitary_gland1.48691467
45MP0002277_abnormal_respiratory_mucosa1.48522793
46MP0005195_abnormal_posterior_eye1.47635636
47MP0000372_irregular_coat_pigmentation1.45646642
48MP0004215_abnormal_myocardial_fiber1.44397764
49MP0004133_heterotaxia1.43506200
50MP0002876_abnormal_thyroid_physiology1.43050437
51MP0005248_abnormal_Harderian_gland1.41005717
52MP0005499_abnormal_olfactory_system1.40353735
53MP0005394_taste/olfaction_phenotype1.40353735
54MP0005391_vision/eye_phenotype1.39072568
55MP0003941_abnormal_skin_development1.35390225
56MP0001984_abnormal_olfaction1.34190536
57MP0009250_abnormal_appendicular_skeleto1.33479874
58MP0003385_abnormal_body_wall1.31808364
59MP0002938_white_spotting1.31645111
60MP0002736_abnormal_nociception_after1.31616597
61MP0010030_abnormal_orbit_morphology1.31074537
62MP0002090_abnormal_vision1.30864795
63MP0002111_abnormal_tail_morphology1.27585433
64MP0002751_abnormal_autonomic_nervous1.27472948
65MP0001486_abnormal_startle_reflex1.22444452
66MP0009384_cardiac_valve_regurgitation1.17669180
67MP0005379_endocrine/exocrine_gland_phen1.16353714
68MP0000569_abnormal_digit_pigmentation1.16073345
69MP0005409_darkened_coat_color1.14753323
70MP0002254_reproductive_system_inflammat1.13261451
71MP0002085_abnormal_embryonic_tissue1.10922175
72MP0001730_embryonic_growth_arrest1.07611173
73MP0002249_abnormal_larynx_morphology1.07443416
74MP0003122_maternal_imprinting1.06359228
75MP0006035_abnormal_mitochondrial_morpho1.06357064
76MP0000751_myopathy1.06296128
77MP0001485_abnormal_pinna_reflex1.05169650
78MP0005377_hearing/vestibular/ear_phenot1.04913830
79MP0003878_abnormal_ear_physiology1.04913830
80MP0000026_abnormal_inner_ear1.04809033
81MP0000350_abnormal_cell_proliferation1.04768824
82MP0008438_abnormal_cutaneous_collagen1.04531867
83MP0002752_abnormal_somatic_nervous1.03850204
84MP0001879_abnormal_lymphatic_vessel1.03715919
85MP0002233_abnormal_nose_morphology1.03201950
86MP0000681_abnormal_thyroid_gland1.03048783
87MP0003137_abnormal_impulse_conducting1.00400570
88MP0001968_abnormal_touch/_nociception1.00391744
89MP0003938_abnormal_ear_development0.98622152
90MP0000538_abnormal_urinary_bladder0.97067690
91MP0003123_paternal_imprinting0.96118174
92MP0001963_abnormal_hearing_physiology0.96013271
93MP0000749_muscle_degeneration0.95892125
94MP0000778_abnormal_nervous_system0.94679916
95MP0002697_abnormal_eye_size0.94629033
96MP0009703_decreased_birth_body0.93545585
97MP0006036_abnormal_mitochondrial_physio0.93532142
98MP0002735_abnormal_chemical_nociception0.91870413
99MP0001177_atelectasis0.91359509
100MP0001697_abnormal_embryo_size0.90981918
101MP0004742_abnormal_vestibular_system0.90066279
102MP0000750_abnormal_muscle_regeneration0.89668153
103MP0003755_abnormal_palate_morphology0.89383293
104MP0002163_abnormal_gland_morphology0.89202062
105MP0003890_abnormal_embryonic-extraembry0.88925085
106MP0001661_extended_life_span0.88624673
107MP0002116_abnormal_craniofacial_bone0.88622658
108MP0002210_abnormal_sex_determination0.87990043
109MP0000534_abnormal_ureter_morphology0.86689045
110MP0004381_abnormal_hair_follicle0.86079333
111MP0001286_abnormal_eye_development0.86008746
112MP0004883_abnormal_blood_vessel0.85860119
113MP0004484_altered_response_of0.85813594
114MP0001664_abnormal_digestion0.85592635
115MP0003195_calcinosis0.84732955
116MP0002084_abnormal_developmental_patter0.84313365
117MP0009046_muscle_twitch0.83562714
118MP0006276_abnormal_autonomic_nervous0.82280630
119MP0002734_abnormal_mechanical_nocicepti0.81713885
120MP0003786_premature_aging0.81153876
121MP0005395_other_phenotype0.79941052
122MP0001145_abnormal_male_reproductive0.79905317
123MP0000631_abnormal_neuroendocrine_gland0.79779938
124MP0000653_abnormal_sex_gland0.79508457
125MP0003119_abnormal_digestive_system0.79304441
126MP0004272_abnormal_basement_membrane0.78953161
127MP0002184_abnormal_innervation0.78441558
128MP0003942_abnormal_urinary_system0.78386344
129MP0003121_genomic_imprinting0.78117295
130MP0003186_abnormal_redox_activity0.76753016
131MP0005595_abnormal_vascular_smooth0.76264960
132MP0000428_abnormal_craniofacial_morphol0.75993458
133MP0003950_abnormal_plasma_membrane0.75903690
134MP0003861_abnormal_nervous_system0.75832499
135MP0002089_abnormal_postnatal_growth/wei0.74880681
136MP0002109_abnormal_limb_morphology0.74716815
137MP0006054_spinal_hemorrhage0.72967061
138MP0000762_abnormal_tongue_morphology0.71994563
139MP0004019_abnormal_vitamin_homeostasis0.71856844
140MP0004197_abnormal_fetal_growth/weight/0.70776799
141MP0003880_abnormal_central_pattern0.69003960
142MP0003937_abnormal_limbs/digits/tail_de0.68535590
143MP0001299_abnormal_eye_distance/0.67888321
144MP0001501_abnormal_sleep_pattern0.67694574
145MP0001672_abnormal_embryogenesis/_devel0.67326279
146MP0005380_embryogenesis_phenotype0.67326279
147MP0002177_abnormal_outer_ear0.66958773
148MP0002080_prenatal_lethality0.66112455
149MP0000015_abnormal_ear_pigmentation0.65419310
150MP0005084_abnormal_gallbladder_morpholo0.65257758
151MP0002572_abnormal_emotion/affect_behav0.64128598
152MP0001270_distended_abdomen0.63704625
153MP0005647_abnormal_sex_gland0.63602018
154MP0002882_abnormal_neuron_morphology0.63453252
155MP0002796_impaired_skin_barrier0.62911007
156MP0003879_abnormal_hair_cell0.62328827
157MP0002113_abnormal_skeleton_development0.61687916
158MP0002115_abnormal_skeleton_extremities0.61471280
159MP0003045_fibrosis0.61401294
160MP0002557_abnormal_social/conspecific_i0.58851757
161MP0005193_abnormal_anterior_eye0.58677489
162MP0001849_ear_inflammation0.58523703
163MP0009745_abnormal_behavioral_response0.58344450
164MP0000432_abnormal_head_morphology0.57161464

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)7.05315756
2Decreased central vision (HP:0007663)6.48355339
3Abnormal rod and cone electroretinograms (HP:0008323)5.89474679
4Decreased circulating renin level (HP:0003351)5.85448094
5Absent rod-and cone-mediated responses on ERG (HP:0007688)5.70861164
6Pendular nystagmus (HP:0012043)4.94757449
7Attenuation of retinal blood vessels (HP:0007843)4.87096124
8Increased corneal curvature (HP:0100692)4.57254733
9Keratoconus (HP:0000563)4.57254733
10Colon cancer (HP:0003003)4.39699970
11Bony spicule pigmentary retinopathy (HP:0007737)4.33253821
12Central scotoma (HP:0000603)3.81888476
13Abnormal drinking behavior (HP:0030082)3.74283248
14Polydipsia (HP:0001959)3.74283248
15Oral leukoplakia (HP:0002745)3.73212957
16Decreased electroretinogram (ERG) amplitude (HP:0000654)3.64549977
17Abnormality of the fovea (HP:0000493)3.60215217
18Chorioretinal atrophy (HP:0000533)3.54619494
19Scotoma (HP:0000575)3.52639467
20Acute necrotizing encephalopathy (HP:0006965)3.50488011
21Severe visual impairment (HP:0001141)3.50067455
22Abnormality of renin-angiotensin system (HP:0000847)3.47167633
23Abolished electroretinogram (ERG) (HP:0000550)3.44991966
24Hypoplasia of the fovea (HP:0007750)3.40431727
25Aplasia/Hypoplasia of the fovea (HP:0008060)3.40431727
26True hermaphroditism (HP:0010459)3.37499355
27Aortic aneurysm (HP:0004942)3.31173549
28Abnormality of the nasal septum (HP:0000419)3.26295166
29Birth length less than 3rd percentile (HP:0003561)3.25030872
30Pigmentary retinal degeneration (HP:0001146)3.20517184
31Abnormality of macular pigmentation (HP:0008002)3.20005504
32Abnormality of the labia minora (HP:0012880)3.15614469
33Rhabdomyosarcoma (HP:0002859)3.06281872
34Meckel diverticulum (HP:0002245)2.99825835
35Congenital sensorineural hearing impairment (HP:0008527)2.95713546
36Aplasia cutis congenita (HP:0001057)2.94332170
37Macular degeneration (HP:0000608)2.94121563
38Absent septum pellucidum (HP:0001331)2.91732125
39Increased hepatocellular lipid droplets (HP:0006565)2.91037208
40Septo-optic dysplasia (HP:0100842)2.87024025
41Hyponatremia (HP:0002902)2.86730779
42Polyuria (HP:0000103)2.85381634
43Chromosomal breakage induced by crosslinking agents (HP:0003221)2.84011096
44Abnormal lung lobation (HP:0002101)2.83177754
45Abnormal mitochondria in muscle tissue (HP:0008316)2.81069569
46Acute encephalopathy (HP:0006846)2.80225165
47Abnormality of the ileum (HP:0001549)2.79258773
48Exercise-induced muscle cramps (HP:0003710)2.79253520
49Pancreatic fibrosis (HP:0100732)2.75698760
50Abnormality of the septum pellucidum (HP:0007375)2.74033571
51Mitochondrial inheritance (HP:0001427)2.73509676
52Progressive macrocephaly (HP:0004481)2.71042146
53Aortic dissection (HP:0002647)2.69964640
54Congenital, generalized hypertrichosis (HP:0004540)2.67814567
55Pancreatic islet-cell hyperplasia (HP:0004510)2.65818304
56Breast aplasia (HP:0100783)2.62582274
57Constricted visual fields (HP:0001133)2.60763242
58Aplasia/Hypoplasia of the breasts (HP:0010311)2.60080480
59Aplastic anemia (HP:0001915)2.58612876
60Photophobia (HP:0000613)2.57543825
61Abnormality of abdominal situs (HP:0011620)2.57016839
62Abdominal situs inversus (HP:0003363)2.57016839
63Nephroblastoma (Wilms tumor) (HP:0002667)2.50370097
64Chromsome breakage (HP:0040012)2.50325519
65Maternal diabetes (HP:0009800)2.50277210
66Bilateral microphthalmos (HP:0007633)2.48601070
67Lipid accumulation in hepatocytes (HP:0006561)2.44687340
68Cerebral edema (HP:0002181)2.44649582
69Corneal dystrophy (HP:0001131)2.44033016
70Homocystinuria (HP:0002156)2.43474654
71Abnormality of homocysteine metabolism (HP:0010919)2.43474654
72Abnormality of incisor morphology (HP:0011063)2.42436257
73Macrocytic anemia (HP:0001972)2.40110451
74Type II diabetes mellitus (HP:0005978)2.38198267
75Selective tooth agenesis (HP:0001592)2.36653277
76Abnormality of sodium homeostasis (HP:0010931)2.35293557
77Megaloblastic anemia (HP:0001889)2.34480408
78Hepatocellular necrosis (HP:0001404)2.31716870
79Embryonal renal neoplasm (HP:0011794)2.31506777
80Increased CSF lactate (HP:0002490)2.27244458
81Abnormality of serum amino acid levels (HP:0003112)2.26998238
82Hypoplastic pelvis (HP:0008839)2.26954517
83Neonatal onset (HP:0003623)2.25700792
84Abnormal urine output (HP:0012590)2.25271223
85Febrile seizures (HP:0002373)2.22520470
86Abnormality of methionine metabolism (HP:0010901)2.21811160
87Abnormal hair whorl (HP:0010721)2.20664385
88Abnormality of chromosome stability (HP:0003220)2.18167496
89Reticulocytopenia (HP:0001896)2.17703906
90Pancreatic cysts (HP:0001737)2.17593930
91Multiple enchondromatosis (HP:0005701)2.17358342
92Cystic liver disease (HP:0006706)2.17044747
93Cone-rod dystrophy (HP:0000548)2.15433216
94Facial cleft (HP:0002006)2.15363750
95Leukodystrophy (HP:0002415)2.14181831
96Progressive muscle weakness (HP:0003323)2.12951610
97Methylmalonic acidemia (HP:0002912)2.12893192
98Abnormality of the preputium (HP:0100587)2.12552312
99Abnormal number of erythroid precursors (HP:0012131)2.12260221
100Aplasia/Hypoplasia of the macula (HP:0008059)2.11727792
101Progressive visual loss (HP:0000529)2.09007344
102Mesomelia (HP:0003027)2.07776029
103Cellular immunodeficiency (HP:0005374)2.06897480
104Bifid tongue (HP:0010297)2.05166337
105Abnormality of renal excretion (HP:0011036)2.01817048
106Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.01668613
107Optic nerve hypoplasia (HP:0000609)2.01465714
108Gout (HP:0001997)2.00241162
109Thyroid-stimulating hormone excess (HP:0002925)1.99916759
110Medial flaring of the eyebrow (HP:0010747)1.97872483
111Alveolar cell carcinoma (HP:0006519)1.97785471
112Submucous cleft hard palate (HP:0000176)1.97716998
113Abnormality of the nasolacrimal system (HP:0000614)1.97291208
114Abnormality of aspartate family amino acid metabolism (HP:0010899)1.96832909
115Ectopic kidney (HP:0000086)1.96291853
116Renal Fanconi syndrome (HP:0001994)1.95522391
117Abnormal number of incisors (HP:0011064)1.94343963
118Dyschromatopsia (HP:0007641)1.93431563
119White forelock (HP:0002211)1.91750562
120Lip pit (HP:0100267)1.91704165
121Hypoglycemic seizures (HP:0002173)1.91662982
122Abnormality of glycine metabolism (HP:0010895)1.89944316
123Abnormality of serine family amino acid metabolism (HP:0010894)1.89944316
124Abnormality of the intervertebral disk (HP:0005108)1.88946172
125Prostate neoplasm (HP:0100787)1.88867314
126Carpal bone hypoplasia (HP:0001498)1.88636085
127Broad alveolar ridges (HP:0000187)1.87286949
128Unilateral renal agenesis (HP:0000122)1.87233900
129Subcapsular cataract (HP:0000523)1.87158624
130Chorioretinal coloboma (HP:0000567)1.86467323
131Hyperglycinemia (HP:0002154)1.86377252
132Nephrogenic diabetes insipidus (HP:0009806)1.85518330
133Tracheoesophageal fistula (HP:0002575)1.85211073
134Abnormality of cells of the erythroid lineage (HP:0012130)1.83824570
135Severe Myopia (HP:0011003)1.83751717
136Neoplasm of striated muscle (HP:0009728)1.82881664
137Aplasia/Hypoplasia of the lens (HP:0008063)1.81576588
138Patchy hypopigmentation of hair (HP:0011365)1.81101029
139Choanal stenosis (HP:0000452)1.80581833
140Choroideremia (HP:0001139)1.79167010
141Aplasia/Hypoplasia of the tongue (HP:0010295)1.79148643
142Small intestinal stenosis (HP:0012848)1.78896098
143Duodenal stenosis (HP:0100867)1.78896098
144Triphalangeal thumb (HP:0001199)1.78374021
145Gait imbalance (HP:0002141)1.76879586
146Abnormality of the fingertips (HP:0001211)1.76716241
147Areflexia of lower limbs (HP:0002522)1.76198278
148Median cleft lip (HP:0000161)1.75862317
149Rough bone trabeculation (HP:0100670)1.75644790
150Hepatic necrosis (HP:0002605)1.75622138
151Morphological abnormality of the middle ear (HP:0008609)1.74583844
152Congenital primary aphakia (HP:0007707)1.74310050
153Growth hormone deficiency (HP:0000824)1.73020964
154Abnormality of the lacrimal duct (HP:0011481)1.72922348
155Preaxial hand polydactyly (HP:0001177)1.72722746
156Posterior subcapsular cataract (HP:0007787)1.72711123
157Chronic bronchitis (HP:0004469)1.71374269
158Aplasia/Hypoplasia of the tibia (HP:0005772)1.70131565
159Abnormality of the duodenum (HP:0002246)1.69837176
160Abnormality of the renal collecting system (HP:0004742)1.69248599
161Erectile abnormalities (HP:0100639)1.68470276
162Hyperinsulinemic hypoglycemia (HP:0000825)1.68296302
163Poor coordination (HP:0002370)1.67912074
164Symptomatic seizures (HP:0011145)1.67880150
165Anencephaly (HP:0002323)1.67330851
166Neoplasm of the tracheobronchial system (HP:0100552)1.65960888
167Aortic regurgitation (HP:0001659)1.65531791
168Aplasia/Hypoplasia affecting the retina (HP:0008061)1.65517460
169Abnormality of the phalanges of the hallux (HP:0010057)1.63201521
170Retinitis pigmentosa (HP:0000510)1.61936217
171Duplicated collecting system (HP:0000081)1.60245264
172Focal motor seizures (HP:0011153)1.60218883
173Myelomeningocele (HP:0002475)1.59877853
174Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.58769554
175Postaxial foot polydactyly (HP:0001830)1.57455234
176Bile duct proliferation (HP:0001408)1.57065256
177Abnormal biliary tract physiology (HP:0012439)1.57065256
178Nephronophthisis (HP:0000090)1.55293790
179Adrenal hypoplasia (HP:0000835)1.54453800
180Male pseudohermaphroditism (HP:0000037)1.50958434
181Short tibia (HP:0005736)1.50714126
182Fibular hypoplasia (HP:0003038)1.50046169
183Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.49880283
184Chronic hepatic failure (HP:0100626)1.48637856
185Limited hip movement (HP:0008800)1.48249493
186Aplasia/Hypoplasia of the uvula (HP:0010293)1.46768581
187Volvulus (HP:0002580)1.45052870
188Bradycardia (HP:0001662)1.44983259
189Abnormality of the columella (HP:0009929)1.44970905

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK6.18558186
2CDC74.41105875
3VRK24.06705938
4BUB13.80536071
5PBK3.50876343
6CDK83.15166448
7MYLK3.01111015
8ZAK2.97328509
9SIK32.77016014
10TTK2.71321664
11TAF12.70333488
12STK38L2.55645844
13NME12.51269814
14PLK42.41926290
15PLK32.32349335
16GRK12.31188665
17TNIK2.24422111
18AKT32.11046802
19MST42.05794138
20TXK2.04697306
21EPHB22.00414433
22SRPK11.97712960
23BRSK21.95885772
24PIK3CG1.89377413
25STK161.88365474
26PDK21.87336668
27BMPR1B1.74919286
28MAP2K71.72375741
29SIK21.70864820
30DYRK31.58523597
31ERBB31.58494215
32NTRK21.56674822
33PRPF4B1.55014282
34CDK121.53867377
35PLK11.52391611
36EPHA41.52221317
37BLK1.51657945
38NEK11.47673187
39TSSK61.41682992
40NEK61.39567992
41ADRBK21.37591629
42MAP3K121.34316782
43TTN1.30604607
44TGFBR21.30365060
45CDK31.29076418
46INSRR1.28587751
47MAP3K141.27857942
48SGK21.26659869
49MKNK21.24805291
50TRIM281.23745455
51EIF2AK21.20690345
52GRK71.16747511
53BMPR21.14040994
54NME21.12898115
55STK41.12181598
56WNK31.10956996
57CHEK21.09645026
58PLK21.09319086
59MAPK131.08845898
60MAPK71.05704589
61CHUK1.05491447
62LATS21.05401815
63AURKB1.04809146
64DMPK1.04385559
65PAK21.01937315
66YES10.98700770
67ACVR1B0.98272552
68ATR0.97720508
69WEE10.97718438
70CDK190.94951801
71CAMK40.92940633
72TEC0.91168099
73EIF2AK10.88074219
74CAMK10.87274226
75NTRK30.85269237
76MKNK10.84417316
77SGK2230.83961014
78SGK4940.83961014
79OXSR10.80532886
80NUAK10.80039433
81NEK20.77324317
82SGK30.76181666
83SIK10.75977012
84PINK10.73720483
85GRK50.73278776
86FRK0.73160226
87ALK0.72481427
88FGFR10.70814024
89ERBB40.68665900
90PIK3CA0.66443222
91VRK10.65481892
92STK30.65159356
93ATM0.63543115
94DYRK1A0.61202280
95CHEK10.59351363
96PAK40.58987492
97FER0.58556107
98PRKCE0.56597041
99CSNK1G10.55974242
100EIF2AK30.55603436
101MINK10.54728276
102ERBB20.54669041
103CSNK2A10.53931166
104BRSK10.53260450
105RIPK40.52644908
106CAMK2A0.52065908
107MAPK120.51567326
108PRKDC0.50356731
109MAP3K100.50263361
110CSNK2A20.50195148
111NLK0.50168609
112CLK10.50050672
113JAK10.49972990
114MAP3K40.49275725
115MAPK150.49056693
116AKT20.48259448
117CDK70.46662331
118RPS6KA20.45823246
119CDC42BPA0.45707347
120PNCK0.45631887
121CSNK1E0.45579324
122CDK10.45145933
123PRKACB0.44577812
124DAPK20.44524472
125ADRBK10.44106170
126MARK20.43831448
127ROCK10.42557101
128CAMK1D0.41687991
129MUSK0.41022682
130PRKCG0.40896041
131STK380.39866461
132NEK90.39727698
133PRKAA20.38409577
134SGK10.38375773
135CDK90.38184264
136CDK20.38087264
137MAP4K20.38012010
138LATS10.37804336
139TAOK10.36663272
140DYRK20.36327525
141PIM20.36304871
142MARK30.35966519
143STK390.35342073
144PASK0.34113555
145AURKA0.34102286
146MAP3K60.33431518
147RPS6KA50.31960284
148RPS6KA40.31664111
149OBSCN0.31616469
150MARK10.29836116
151MAPKAPK20.29782161
152PRKG10.28583783
153MAPK40.28287150
154KIT0.28117153
155CSNK1A1L0.28050582
156PKN10.27407030
157PTK2B0.27295823
158AKT10.26490984
159TLK10.25651837
160FGR0.25628991
161PRKACA0.25593752
162CSNK1G20.23267475
163ABL20.21218357
164PAK10.21137908
165CAMK2D0.20761558
166TGFBR10.20307852
167CDK40.19786855

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047445.59982435
2Mismatch repair_Homo sapiens_hsa034303.85193215
3DNA replication_Homo sapiens_hsa030303.54396149
4Proteasome_Homo sapiens_hsa030503.43692508
5Oxidative phosphorylation_Homo sapiens_hsa001903.18914483
6Ribosome_Homo sapiens_hsa030103.16883544
7RNA polymerase_Homo sapiens_hsa030203.16702493
8Nicotine addiction_Homo sapiens_hsa050333.00281618
9Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.92985402
10Parkinsons disease_Homo sapiens_hsa050122.90298690
11Homologous recombination_Homo sapiens_hsa034402.83829731
12Spliceosome_Homo sapiens_hsa030402.58824887
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.39798826
14Protein export_Homo sapiens_hsa030602.33511919
15Non-homologous end-joining_Homo sapiens_hsa034502.29610409
16Huntingtons disease_Homo sapiens_hsa050162.14114819
17Base excision repair_Homo sapiens_hsa034102.09210501
18Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.01256469
19Vitamin B6 metabolism_Homo sapiens_hsa007501.91535784
20Morphine addiction_Homo sapiens_hsa050321.89844734
21RNA degradation_Homo sapiens_hsa030181.89009321
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.87980987
23Alzheimers disease_Homo sapiens_hsa050101.84944005
24RNA transport_Homo sapiens_hsa030131.82724775
25Cardiac muscle contraction_Homo sapiens_hsa042601.80193120
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.76487570
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.75610645
28Nucleotide excision repair_Homo sapiens_hsa034201.68550698
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.66283168
30Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.62064844
31Olfactory transduction_Homo sapiens_hsa047401.58791303
32Autoimmune thyroid disease_Homo sapiens_hsa053201.58716181
33Synaptic vesicle cycle_Homo sapiens_hsa047211.54200057
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.50451332
35Serotonergic synapse_Homo sapiens_hsa047261.49433378
36Basal transcription factors_Homo sapiens_hsa030221.48219162
37Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.47655368
38Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.44541365
39Cysteine and methionine metabolism_Homo sapiens_hsa002701.43410206
40Cell cycle_Homo sapiens_hsa041101.42038281
41Pyruvate metabolism_Homo sapiens_hsa006201.41668657
42Pyrimidine metabolism_Homo sapiens_hsa002401.40231874
43One carbon pool by folate_Homo sapiens_hsa006701.39459475
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.33401601
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.31327805
46Rheumatoid arthritis_Homo sapiens_hsa053231.27961174
47Circadian entrainment_Homo sapiens_hsa047131.26869325
48GABAergic synapse_Homo sapiens_hsa047271.26118412
49Arachidonic acid metabolism_Homo sapiens_hsa005901.25982601
50Purine metabolism_Homo sapiens_hsa002301.25410810
51TGF-beta signaling pathway_Homo sapiens_hsa043501.23851985
52Fatty acid elongation_Homo sapiens_hsa000621.23800800
53Melanoma_Homo sapiens_hsa052181.22542599
54Sphingolipid metabolism_Homo sapiens_hsa006001.22259147
55Steroid biosynthesis_Homo sapiens_hsa001001.22161683
56Propanoate metabolism_Homo sapiens_hsa006401.21370257
57Retinol metabolism_Homo sapiens_hsa008301.20094046
58Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.18517816
59Taste transduction_Homo sapiens_hsa047421.18515158
60Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.18267240
61Renin secretion_Homo sapiens_hsa049241.15117623
62Calcium signaling pathway_Homo sapiens_hsa040201.14768992
63Biosynthesis of amino acids_Homo sapiens_hsa012301.14325162
64Circadian rhythm_Homo sapiens_hsa047101.13778696
65Vascular smooth muscle contraction_Homo sapiens_hsa042701.12115006
66Selenocompound metabolism_Homo sapiens_hsa004501.11935097
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.11679639
68Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.11572578
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.10611964
70Dilated cardiomyopathy_Homo sapiens_hsa054141.09281904
71Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.07095757
72Fanconi anemia pathway_Homo sapiens_hsa034601.05879561
73cAMP signaling pathway_Homo sapiens_hsa040241.04314796
74NF-kappa B signaling pathway_Homo sapiens_hsa040641.02888849
75Notch signaling pathway_Homo sapiens_hsa043301.02369976
76mRNA surveillance pathway_Homo sapiens_hsa030151.02262746
77Collecting duct acid secretion_Homo sapiens_hsa049661.01709435
78Axon guidance_Homo sapiens_hsa043601.01654253
79Adherens junction_Homo sapiens_hsa045201.01386808
80Hematopoietic cell lineage_Homo sapiens_hsa046400.99377106
81Glutamatergic synapse_Homo sapiens_hsa047240.99202516
82SNARE interactions in vesicular transport_Homo sapiens_hsa041300.98133618
83Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97549237
84Wnt signaling pathway_Homo sapiens_hsa043100.95196259
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.95191356
86ECM-receptor interaction_Homo sapiens_hsa045120.95063211
87Colorectal cancer_Homo sapiens_hsa052100.94292442
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.91625430
89Cholinergic synapse_Homo sapiens_hsa047250.90666980
90Basal cell carcinoma_Homo sapiens_hsa052170.90125871
91Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.90006696
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.89095222
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87871786
94Systemic lupus erythematosus_Homo sapiens_hsa053220.84984909
95cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84754482
96Oocyte meiosis_Homo sapiens_hsa041140.82172301
97Hedgehog signaling pathway_Homo sapiens_hsa043400.81339972
98Fatty acid degradation_Homo sapiens_hsa000710.80289388
99Ras signaling pathway_Homo sapiens_hsa040140.79435420
100Vitamin digestion and absorption_Homo sapiens_hsa049770.79233424
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78826738
102Fatty acid metabolism_Homo sapiens_hsa012120.76719293
103Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.76373021
104Insulin secretion_Homo sapiens_hsa049110.76087686
105Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.74147541
106Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.74134275
107MAPK signaling pathway_Homo sapiens_hsa040100.73020894
108Salivary secretion_Homo sapiens_hsa049700.71735834
109Oxytocin signaling pathway_Homo sapiens_hsa049210.71693261
110Endometrial cancer_Homo sapiens_hsa052130.71184053
111Asthma_Homo sapiens_hsa053100.71073363
112Hippo signaling pathway_Homo sapiens_hsa043900.70011542
113Ether lipid metabolism_Homo sapiens_hsa005650.68960242
114Phagosome_Homo sapiens_hsa041450.68330933
115Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.67117555
116Tuberculosis_Homo sapiens_hsa051520.66655131
117Glutathione metabolism_Homo sapiens_hsa004800.66183446
118Transcriptional misregulation in cancer_Homo sapiens_hsa052020.65673038
119Carbon metabolism_Homo sapiens_hsa012000.63986314
120Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.63816037
121Malaria_Homo sapiens_hsa051440.62723847
122Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.62649962
123Jak-STAT signaling pathway_Homo sapiens_hsa046300.61909173
124Focal adhesion_Homo sapiens_hsa045100.61221168
125Metabolic pathways_Homo sapiens_hsa011000.60576317
126Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60315347
127Regulation of actin cytoskeleton_Homo sapiens_hsa048100.60226644
128Melanogenesis_Homo sapiens_hsa049160.59992306
129Pathways in cancer_Homo sapiens_hsa052000.59765597
130Ovarian steroidogenesis_Homo sapiens_hsa049130.59761424
131PI3K-Akt signaling pathway_Homo sapiens_hsa041510.58685996
132TNF signaling pathway_Homo sapiens_hsa046680.58668931
133Amphetamine addiction_Homo sapiens_hsa050310.57563672
134Herpes simplex infection_Homo sapiens_hsa051680.57400783
135Pancreatic cancer_Homo sapiens_hsa052120.55941576
136Other glycan degradation_Homo sapiens_hsa005110.54571313
137Rap1 signaling pathway_Homo sapiens_hsa040150.54531807
138p53 signaling pathway_Homo sapiens_hsa041150.53582382
139Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.53578121
140Phosphatidylinositol signaling system_Homo sapiens_hsa040700.53289236
141Small cell lung cancer_Homo sapiens_hsa052220.52533913
142Folate biosynthesis_Homo sapiens_hsa007900.51327732
143Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51279950
144Allograft rejection_Homo sapiens_hsa053300.49677990
145Intestinal immune network for IgA production_Homo sapiens_hsa046720.49308123
146Prostate cancer_Homo sapiens_hsa052150.48740092
147Measles_Homo sapiens_hsa051620.48640660
148Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48240874
149AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.47389629
150Cyanoamino acid metabolism_Homo sapiens_hsa004600.47070684
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.46921145
152MicroRNAs in cancer_Homo sapiens_hsa052060.45609925
153Toll-like receptor signaling pathway_Homo sapiens_hsa046200.43987691
154Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.42165532
155Influenza A_Homo sapiens_hsa051640.42118625
156ErbB signaling pathway_Homo sapiens_hsa040120.41470768
157Hepatitis B_Homo sapiens_hsa051610.41458896
158Tight junction_Homo sapiens_hsa045300.40130974
159Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.39849523
160Butanoate metabolism_Homo sapiens_hsa006500.37095063
161Alcoholism_Homo sapiens_hsa050340.36837588
162Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.35235437
163Pentose and glucuronate interconversions_Homo sapiens_hsa000400.33444314
164Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29840806
165Peroxisome_Homo sapiens_hsa041460.29394634
166Chemical carcinogenesis_Homo sapiens_hsa052040.25911490
167Tryptophan metabolism_Homo sapiens_hsa003800.25293374
168Arginine biosynthesis_Homo sapiens_hsa002200.24639559
169Arginine and proline metabolism_Homo sapiens_hsa003300.24396303
170Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.24039126
171Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.23669963
172Primary bile acid biosynthesis_Homo sapiens_hsa001200.18725216
173Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.17266622
174Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.17191400
175Lysine degradation_Homo sapiens_hsa003100.13883093

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