LIM2

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





Description: This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1visual perception (GO:0007601)9.26866745
2sensory perception of light stimulus (GO:0050953)9.15775556
3cytolysis (GO:0019835)8.54067229
4camera-type eye development (GO:0043010)8.40051309
5protein refolding (GO:0042026)7.94699306
6ribosomal small subunit assembly (GO:0000028)7.86892377
7histone H3-K9 demethylation (GO:0033169)7.82067688
8muscle cell cellular homeostasis (GO:0046716)7.71172370
9cellular response to osmotic stress (GO:0071470)7.07909224
10regulation of protein sumoylation (GO:0033233)7.07633537
11bile acid and bile salt transport (GO:0015721)7.05877586
12eye development (GO:0001654)6.75867594
13positive regulation of SMAD protein import into nucleus (GO:0060391)6.40687077
14myofibril assembly (GO:0030239)6.38845977
15nodal signaling pathway (GO:0038092)5.71536438
16viral transcription (GO:0019083)5.71240535
17cranial suture morphogenesis (GO:0060363)5.55681331
18positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)5.29499183
19translational termination (GO:0006415)5.27770700
20sensory organ development (GO:0007423)5.15740380
21response to salt stress (GO:0009651)5.01701019
22negative regulation of androgen receptor signaling pathway (GO:0060766)4.93263199
23piRNA metabolic process (GO:0034587)4.91697672
24ncRNA 3-end processing (GO:0043628)4.87905229
25negative regulation of homotypic cell-cell adhesion (GO:0034111)4.81307342
26regulation of SMAD protein import into nucleus (GO:0060390)4.73567326
27ribosomal small subunit biogenesis (GO:0042274)4.73153056
28somatic hypermutation of immunoglobulin genes (GO:0016446)4.70725865
29somatic diversification of immune receptors via somatic mutation (GO:0002566)4.70725865
30insulin-like growth factor receptor signaling pathway (GO:0048009)4.70675992
31sarcomere organization (GO:0045214)4.64197170
32translational elongation (GO:0006414)4.62076001
33regulation of posttranscriptional gene silencing (GO:0060147)4.55488367
34regulation of gene silencing by miRNA (GO:0060964)4.55488367
35regulation of gene silencing by RNA (GO:0060966)4.55488367
36nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.44892196
37labyrinthine layer development (GO:0060711)4.38274650
38SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.36332509
39cell fate commitment involved in formation of primary germ layer (GO:0060795)4.28217117
40formation of translation preinitiation complex (GO:0001731)4.26446537
41sensory perception (GO:0007600)4.24358497
42cotranslational protein targeting to membrane (GO:0006613)4.21196380
43embryonic process involved in female pregnancy (GO:0060136)4.17640233
44protein targeting to ER (GO:0045047)4.15990371
45regulation of myoblast differentiation (GO:0045661)4.14085077
46regulation of meiosis I (GO:0060631)4.14069106
47translational initiation (GO:0006413)4.12767539
48protein maturation by protein folding (GO:0022417)4.11940647
49regulation of activin receptor signaling pathway (GO:0032925)4.11544000
50viral life cycle (GO:0019058)4.04115479
51protein homotrimerization (GO:0070207)4.03927330
52* lens development in camera-type eye (GO:0002088)34.3245770
53chaperone-mediated protein transport (GO:0072321)3.98319559
54single strand break repair (GO:0000012)3.97947436
55cellular protein complex disassembly (GO:0043624)3.97703338
56establishment of protein localization to endoplasmic reticulum (GO:0072599)3.95117784
57mesenchymal cell proliferation (GO:0010463)3.85984765
58protein localization to endoplasmic reticulum (GO:0070972)3.81360227
59mitotic metaphase plate congression (GO:0007080)3.76498942
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.72772010
61determination of adult lifespan (GO:0008340)3.57277483
62pyrimidine-containing compound salvage (GO:0008655)3.57236695
63pyrimidine nucleoside salvage (GO:0043097)3.57236695
64lung epithelium development (GO:0060428)3.55019198
65male meiosis (GO:0007140)3.52092471
66DNA methylation involved in gamete generation (GO:0043046)3.51818210
67protein complex disassembly (GO:0043241)3.50193791
68tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.49184831
69RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.49184831
70pentose metabolic process (GO:0019321)3.47097938
71notochord development (GO:0030903)3.47057691
72water transport (GO:0006833)3.46759832
73regulation of Rac protein signal transduction (GO:0035020)3.46670304
74regulation of platelet aggregation (GO:0090330)3.43131642
75negative regulation of gene silencing (GO:0060969)3.34596871
76regulation of timing of cell differentiation (GO:0048505)3.33872030
77DNA replication checkpoint (GO:0000076)3.33742012
78metaphase plate congression (GO:0051310)3.31775256
79positive regulation of calcium ion transport into cytosol (GO:0010524)3.30238211
80regulation of skeletal muscle fiber development (GO:0048742)3.26716805
81positive regulation of wound healing (GO:0090303)3.26491194
82telomere maintenance via semi-conservative replication (GO:0032201)3.26089980
834-hydroxyproline metabolic process (GO:0019471)3.25395332
84regulation of mesoderm development (GO:2000380)3.24712888
85macromolecular complex disassembly (GO:0032984)3.24174829
86nuclear-transcribed mRNA catabolic process (GO:0000956)3.19235854
87ribosomal large subunit biogenesis (GO:0042273)3.19130198
88DNA replication initiation (GO:0006270)3.18456318
89DNA strand elongation involved in DNA replication (GO:0006271)3.18290101
90IMP biosynthetic process (GO:0006188)3.14631810
91nucleoside salvage (GO:0043174)3.13873612
92regulation of cell fate commitment (GO:0010453)3.10319297
93morphogenesis of an epithelial fold (GO:0060571)3.09397740
94base-excision repair, AP site formation (GO:0006285)3.08204207
95primitive streak formation (GO:0090009)3.06825499
96protein-cofactor linkage (GO:0018065)3.06257264
97cellular response to calcium ion (GO:0071277)3.04685635
98craniofacial suture morphogenesis (GO:0097094)3.03153093
99mRNA catabolic process (GO:0006402)3.02481004
100intermediate filament cytoskeleton organization (GO:0045104)3.01123722
101chromatin remodeling at centromere (GO:0031055)3.00682458
102lens fiber cell development (GO:0070307)27.8107483
103lens fiber cell differentiation (GO:0070306)21.9887588
104DNA strand elongation (GO:0022616)2.99891898
105regulation of development, heterochronic (GO:0040034)2.98910758
106regulation of androgen receptor signaling pathway (GO:0060765)2.98712970
107positive regulation of catenin import into nucleus (GO:0035413)2.98299711
108cellular response to zinc ion (GO:0071294)2.98258567
109fluid transport (GO:0042044)2.97740232
110maternal placenta development (GO:0001893)2.97734504
111deoxyribose phosphate catabolic process (GO:0046386)2.96836561
112synapsis (GO:0007129)2.94002702
113negative regulation of platelet activation (GO:0010544)2.92641958
114heterochromatin organization (GO:0070828)2.90115998
115intermediate filament-based process (GO:0045103)2.89188365
116histone H4-K5 acetylation (GO:0043981)2.87322524
117histone H4-K8 acetylation (GO:0043982)2.87322524
118translation (GO:0006412)2.86850806
119protein targeting to membrane (GO:0006612)2.86328554
120CENP-A containing nucleosome assembly (GO:0034080)2.84929631
121RNA catabolic process (GO:0006401)2.83690877
122rRNA processing (GO:0006364)2.82426393
123response to activity (GO:0014823)2.80210826
124histone arginine methylation (GO:0034969)2.78672598
125base-excision repair (GO:0006284)2.78056345
126ribonucleoprotein complex biogenesis (GO:0022613)2.77052136
127histone lysine demethylation (GO:0070076)2.75720906
128RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)2.73565723
129L-serine metabolic process (GO:0006563)2.73217611
130mitotic chromosome condensation (GO:0007076)2.72679039
131negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.72099643
132histone H2A acetylation (GO:0043968)2.70531575
133rRNA metabolic process (GO:0016072)2.69685528
134dopaminergic neuron differentiation (GO:0071542)2.68686498
135respiratory tube development (GO:0030323)2.67776134
136regulation of G0 to G1 transition (GO:0070316)2.65694920
137blastocyst development (GO:0001824)2.65172072
138digestive tract morphogenesis (GO:0048546)2.64542778
139histone demethylation (GO:0016577)2.59873845
140skeletal muscle organ development (GO:0060538)2.58514687
141cerebellar granule cell differentiation (GO:0021707)2.58156091
142activation of JUN kinase activity (GO:0007257)2.56656403
143epithelial cell development (GO:0002064)2.52284328
144L-alpha-amino acid transmembrane transport (GO:1902475)2.47789991
145lung-associated mesenchyme development (GO:0060484)2.47632137
146negative regulation of cell size (GO:0045792)2.47159332
147regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.45928790
148actomyosin structure organization (GO:0031032)2.44813882
149mating behavior (GO:0007617)2.43475645
150regulation of myotube differentiation (GO:0010830)2.41328681
151protein demethylation (GO:0006482)2.30765213
152protein dealkylation (GO:0008214)2.30765213
153diaphragm development (GO:0060539)2.30566520
154response to osmotic stress (GO:0006970)2.29758273
155regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.29593471
156basement membrane organization (GO:0071711)2.19763585
157positive regulation of dendritic spine development (GO:0060999)2.17552633
158positive regulation of dendrite morphogenesis (GO:0050775)2.16582894
159protein localization to cell surface (GO:0034394)2.13734631
160regulation of homotypic cell-cell adhesion (GO:0034110)2.12515073
161prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.11278351
162protein trimerization (GO:0070206)2.09535009
163metanephric nephron tubule development (GO:0072234)2.05741277
164metanephric tubule development (GO:0072170)2.05741277
165lens morphogenesis in camera-type eye (GO:0002089)11.2742931
166response to muscle activity (GO:0014850)10.7028235
167apoptotic process involved in morphogenesis (GO:0060561)1.96365607
168apoptotic process involved in development (GO:1902742)1.95066696
169neuronal stem cell maintenance (GO:0097150)1.94421574
170collecting duct development (GO:0072044)1.93806701
171cell maturation (GO:0048469)1.92452937
172positive regulation of developmental growth (GO:0048639)1.92387343
173dorsal/ventral axis specification (GO:0009950)1.91547148
174carnitine shuttle (GO:0006853)1.87691793
175metanephric nephron epithelium development (GO:0072243)1.86085037
176cellular response to vitamin D (GO:0071305)1.85527446
177cellular response to prostaglandin stimulus (GO:0071379)1.82730065
178negative regulation of potassium ion transmembrane transport (GO:1901380)1.82495993
179negative regulation of hormone metabolic process (GO:0032351)1.81096297
180negative regulation of hormone biosynthetic process (GO:0032353)1.81096297
181cytoskeletal anchoring at plasma membrane (GO:0007016)1.79847531
182negative regulation of JUN kinase activity (GO:0043508)1.78210041
183regulation of skeletal muscle tissue development (GO:0048641)1.76640828
184regulation of dendritic spine morphogenesis (GO:0061001)1.76182071
185regulation of calcium ion transport into cytosol (GO:0010522)1.75106162
186anatomical structure regression (GO:0060033)1.74390562
187negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.73318611
188regulation of platelet activation (GO:0010543)1.71937264
189regulation of striated muscle cell differentiation (GO:0051153)1.71664160
190cartilage morphogenesis (GO:0060536)1.68970374
191regulation of wound healing (GO:0061041)1.66936538
192bone trabecula formation (GO:0060346)1.65561091
193lung morphogenesis (GO:0060425)1.65487609
194fatty acid transmembrane transport (GO:1902001)1.63705577
195phosphatidylinositol 3-kinase signaling (GO:0014065)1.63021917
196protein homooligomerization (GO:0051260)1.62561030
197developmental maturation (GO:0021700)1.61520864

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.73745131
2ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.50223025
3CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.03113327
4E2F7_22180533_ChIP-Seq_HELA_Human3.59877951
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.44544502
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.43790974
7IKZF1_21737484_ChIP-ChIP_HCT116_Human3.40570496
8PCGF2_27294783_Chip-Seq_NPCs_Mouse3.36884587
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.33702109
10EGR1_19032775_ChIP-ChIP_M12_Human3.23824472
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.04319436
12MYC_18358816_ChIP-ChIP_MESCs_Mouse2.62240684
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.61906987
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.59897139
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.56720711
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56214685
17BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.51315919
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.48499132
19POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.48462243
20NANOG_18555785_ChIP-Seq_MESCs_Mouse2.46682415
21YY1_21170310_ChIP-Seq_MESCs_Mouse2.45959963
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.30960221
23THAP11_20581084_ChIP-Seq_MESCs_Mouse2.28795266
24CREB1_15753290_ChIP-ChIP_HEK293T_Human2.28605555
25EGR1_19374776_ChIP-ChIP_THP-1_Human2.26721876
26ETS1_20019798_ChIP-Seq_JURKAT_Human2.25604329
27EST1_17652178_ChIP-ChIP_JURKAT_Human2.21084519
28MYC_19030024_ChIP-ChIP_MESCs_Mouse2.16673145
29KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.11350570
30KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.11350570
31KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.11350570
32ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.07263364
33E2F1_18555785_ChIP-Seq_MESCs_Mouse2.04884928
34FOXP3_21729870_ChIP-Seq_TREG_Human2.03706415
35SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.01107083
36BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse10.9616950
37TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.96119793
38POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.95048562
39NFE2_27457419_Chip-Seq_LIVER_Mouse1.93435755
40POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.92835822
41EZH2_22144423_ChIP-Seq_EOC_Human1.89297049
42MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.84710838
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.84618323
44GATA1_22025678_ChIP-Seq_K562_Human1.83585874
45XRN2_22483619_ChIP-Seq_HELA_Human1.81235686
46EZH2_18974828_ChIP-Seq_MESCs_Mouse1.80913660
47RNF2_18974828_ChIP-Seq_MESCs_Mouse1.80913660
48TTF2_22483619_ChIP-Seq_HELA_Human1.80065923
49SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.76822876
50FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.76325637
51JARID2_20064375_ChIP-Seq_MESCs_Mouse1.75949945
52NELFA_20434984_ChIP-Seq_ESCs_Mouse1.73078298
53GATA3_24758297_ChIP-Seq_MCF-7_Human1.72885200
54NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.71073477
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.69346664
56NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.68951867
57NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.68715053
58DCP1A_22483619_ChIP-Seq_HELA_Human1.62971419
59* GABP_19822575_ChIP-Seq_HepG2_Human1.60624057
60CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.59603024
61MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.59385313
62* NANOG_16153702_ChIP-ChIP_HESCs_Human1.58259109
63SOX2_22085726_ChIP-Seq_NPCs_Mouse1.58105570
64WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.57878888
65NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.53462759
66LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.53429046
67E2F4_17652178_ChIP-ChIP_JURKAT_Human1.50898271
68EED_16625203_ChIP-ChIP_MESCs_Mouse1.50448513
69TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.49678310
70TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.49662073
71KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.48868976
72TCF3_18692474_ChIP-Seq_MESCs_Mouse1.48135879
73EZH2_27294783_Chip-Seq_NPCs_Mouse1.47115982
74SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.44777675
75NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.44050246
76VDR_23849224_ChIP-Seq_CD4+_Human1.43800140
77RNF2_27304074_Chip-Seq_ESCs_Mouse1.43278664
78MYC_22102868_ChIP-Seq_BL_Human1.42059578
79ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.41856610
80CTCF_18555785_Chip-Seq_ESCs_Mouse1.37438127
81SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.36382266
82KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.35159717
83SRF_21415370_ChIP-Seq_HL-1_Mouse1.34766549
84MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.33493492
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32635479
86SALL4_22934838_ChIP-ChIP_CD34+_Human1.32225610
87SMAD1_18555785_Chip-Seq_ESCs_Mouse1.31434406
88RUNX1_27457419_Chip-Seq_LIVER_Mouse1.31330961
89CTCF_27219007_Chip-Seq_Bcells_Human1.30873420
90CBX2_27304074_Chip-Seq_ESCs_Mouse1.30371017
91LXR_22292898_ChIP-Seq_THP-1_Human1.30041731
92EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.29865417
93PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.29742665
94SOX2_18555785_ChIP-Seq_MESCs_Mouse1.28142450
95GATA1_19941827_ChIP-Seq_MEL86_Mouse1.28140460
96* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.27891996
97FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.25729856
98MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23696823
99SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.22552508
100MTF2_20144788_ChIP-Seq_MESCs_Mouse1.22222047
101ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.21953459
102CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.21722711
103TP53_20018659_ChIP-ChIP_R1E_Mouse1.21648210
104ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21099557
105SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.21047568
106TBX3_20139965_ChIP-Seq_MESCs_Mouse1.21031313
107TBX3_20139965_ChIP-Seq_ESCs_Mouse1.20656078
108SOX2_18692474_ChIP-Seq_MEFs_Mouse1.20141726
109ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.19858371
110TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.19193803
111IRF1_19129219_ChIP-ChIP_H3396_Human1.18833527
112EP300_21415370_ChIP-Seq_HL-1_Mouse1.18206356
113SMC3_22415368_ChIP-Seq_MEFs_Mouse1.17355095
114ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.17001096
115SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.16826492
116FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.16682416
117ZNF263_19887448_ChIP-Seq_K562_Human1.16159747
118JARID2_20075857_ChIP-Seq_MESCs_Mouse1.16084811
119ZFX_18555785_ChIP-Seq_MESCs_Mouse1.15460518
120NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.13938108
121TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.13781841
122* SOX2_16153702_ChIP-ChIP_HESCs_Human1.12974538
123KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12871650
124ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.12036930
125TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.11060538
126EZH2_27294783_Chip-Seq_ESCs_Mouse1.10243048
127MYC_18940864_ChIP-ChIP_HL60_Human1.09760207
128FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09369749
129PU1_27457419_Chip-Seq_LIVER_Mouse1.09091389
130EZH2_27304074_Chip-Seq_ESCs_Mouse1.07973710
131BCOR_27268052_Chip-Seq_Bcells_Human1.07925620
132NOTCH1_21737748_ChIP-Seq_TLL_Human1.07410477
133GATA2_21666600_ChIP-Seq_HMVEC_Human1.07142536
134SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06798748
135PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.06729508
136SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.06665265
137* KDM5A_27292631_Chip-Seq_BREAST_Human1.05535982
138SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.03413402
139FOXA2_19822575_ChIP-Seq_HepG2_Human1.03227548
140HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.03209435
141SOX2_18692474_ChIP-Seq_MESCs_Mouse1.02976504
142ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02811119
143DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.02566485
144TCF3_18692474_ChIP-Seq_MEFs_Mouse1.02298818
145E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.01545880
146TCF7_22412390_ChIP-Seq_EML_Mouse1.01390946
147P68_20966046_ChIP-Seq_HELA_Human0.99390257
148EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.99328557
149RING1B_27294783_Chip-Seq_NPCs_Mouse0.98988038
150NANOG_18692474_ChIP-Seq_MEFs_Mouse0.98354956
151HOXB4_20404135_ChIP-ChIP_EML_Mouse0.98240907
152PHF8_20622854_ChIP-Seq_HELA_Human0.98240328
153FOXP1_21924763_ChIP-Seq_HESCs_Human0.98028628
154YY1_22570637_ChIP-Seq_MALME-3M_Human0.97361990
155KAP1_27257070_Chip-Seq_ESCs_Mouse0.97015456
156TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96729280
157MYC_19079543_ChIP-ChIP_MESCs_Mouse0.95856823
158* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95479803
159EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95322775
160TP63_17297297_ChIP-ChIP_HaCaT_Human0.95197804
161RING1B_27294783_Chip-Seq_ESCs_Mouse0.95152345
162ZNF274_21170338_ChIP-Seq_K562_Hela0.95120355
163BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.94486275
164SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.94420090
165NANOG_21062744_ChIP-ChIP_HESCs_Human0.93767861
166ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.93517548
167* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.93440475
168SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.93106388
169VDR_22108803_ChIP-Seq_LS180_Human0.90484475
170KDM2B_26808549_Chip-Seq_SUP-B15_Human0.90397775
171CLOCK_20551151_ChIP-Seq_293T_Human0.90059221
172RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.89430695
173SMAD3_21741376_ChIP-Seq_ESCs_Human0.89337901
174OCT4_18692474_ChIP-Seq_MEFs_Mouse0.89087440
175SMC1_22415368_ChIP-Seq_MEFs_Mouse0.88784910
176CRX_20693478_ChIP-Seq_RETINA_Mouse0.87124717
177KDM2B_26808549_Chip-Seq_K562_Human0.86486288
178PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.86457304
179CTCF_21964334_Chip-Seq_Bcells_Human0.86215460
180NR3C1_23031785_ChIP-Seq_PC12_Mouse0.85740068
181CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.84602769
182HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.84319904
183* ELK3_25401928_ChIP-Seq_HUVEC_Human0.83881899
184KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.83460139
185KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.82500400
186OCT4_21477851_ChIP-Seq_ESCs_Mouse0.81646200
187* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.81362290
188OCT4_19829295_ChIP-Seq_ESCs_Human0.80948271
189ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80628440
190P53_22387025_ChIP-Seq_ESCs_Mouse0.80276580
191CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.79730266
192CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.79613181

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye9.15929942
2MP0005253_abnormal_eye_physiology4.94998442
3MP0001286_abnormal_eye_development4.03277675
4MP0002092_abnormal_eye_morphology3.97455514
5MP0005197_abnormal_uvea_morphology3.92044034
6MP0000749_muscle_degeneration3.87435735
7MP0008058_abnormal_DNA_repair3.66658587
8MP0003806_abnormal_nucleotide_metabolis3.61428637
9MP0004133_heterotaxia3.46526872
10MP0003941_abnormal_skin_development3.42681153
11MP0004957_abnormal_blastocyst_morpholog3.40363308
12MP0008877_abnormal_DNA_methylation3.35775625
13MP0005391_vision/eye_phenotype3.23765634
14MP0008260_abnormal_autophagy2.98924367
15MP0003111_abnormal_nucleus_morphology2.71991513
16MP0003693_abnormal_embryo_hatching2.70238338
17MP0000566_synostosis2.64230522
18MP0002090_abnormal_vision2.41596385
19MP0009333_abnormal_splenocyte_physiolog2.36095067
20MP0003077_abnormal_cell_cycle2.34494261
21MP0010094_abnormal_chromosome_stability2.29748071
22MP0001346_abnormal_lacrimal_gland2.22471232
23MP0003718_maternal_effect2.18484205
24MP0005671_abnormal_response_to2.13846303
25MP0010030_abnormal_orbit_morphology2.10402325
26MP0008961_abnormal_basal_metabolism2.04207911
27* MP0002697_abnormal_eye_size13.8690088
28MP0006035_abnormal_mitochondrial_morpho1.97204607
29MP0003186_abnormal_redox_activity1.89535915
30MP0001730_embryonic_growth_arrest1.86715915
31MP0009379_abnormal_foot_pigmentation1.76978249
32MP0002108_abnormal_muscle_morphology1.69218953
33MP0003121_genomic_imprinting1.64092246
34MP0005379_endocrine/exocrine_gland_phen1.63013299
35MP0004272_abnormal_basement_membrane1.62175829
36MP0008057_abnormal_DNA_replication1.60331909
37MP0005330_cardiomyopathy1.57736745
38MP0003878_abnormal_ear_physiology1.56703441
39MP0005377_hearing/vestibular/ear_phenot1.56703441
40MP0002269_muscular_atrophy1.56163532
41MP0004142_abnormal_muscle_tone1.54935713
42MP0002210_abnormal_sex_determination1.52865113
43MP0002254_reproductive_system_inflammat1.52129118
44MP0003890_abnormal_embryonic-extraembry1.50485171
45MP0003119_abnormal_digestive_system1.49125123
46MP0005380_embryogenesis_phenotype1.46671083
47MP0001672_abnormal_embryogenesis/_devel1.46671083
48MP0010368_abnormal_lymphatic_system1.44522014
49MP0003937_abnormal_limbs/digits/tail_de1.43971629
50MP0008995_early_reproductive_senescence1.43588140
51MP0003136_yellow_coat_color1.41507342
52MP0002638_abnormal_pupillary_reflex1.41342317
53MP0002085_abnormal_embryonic_tissue1.40996011
54MP0000490_abnormal_crypts_of1.29409800
55MP0001929_abnormal_gametogenesis1.28358740
56MP0002084_abnormal_developmental_patter1.26934279
57MP0005670_abnormal_white_adipose1.26798181
58MP0000358_abnormal_cell_content/1.26449386
59MP0000313_abnormal_cell_death1.24198294
60MP0008932_abnormal_embryonic_tissue1.22010410
61MP0002938_white_spotting1.20924553
62MP0002139_abnormal_hepatobiliary_system1.18077397
63MP0000653_abnormal_sex_gland1.15416165
64MP0001145_abnormal_male_reproductive1.14381212
65MP0002132_abnormal_respiratory_system1.12111848
66MP0004233_abnormal_muscle_weight1.09687949
67MP0002080_prenatal_lethality1.08477293
68MP0001697_abnormal_embryo_size1.07306869
69MP0000470_abnormal_stomach_morphology1.05931502
70MP0001299_abnormal_eye_distance/1.05674602
71MP0003984_embryonic_growth_retardation1.05312030
72MP0005058_abnormal_lysosome_morphology1.03992748
73MP0002735_abnormal_chemical_nociception1.03716409
74MP0003698_abnormal_male_reproductive1.02560552
75MP0002088_abnormal_embryonic_growth/wei0.97825606
76MP0000350_abnormal_cell_proliferation0.96648109
77MP0000703_abnormal_thymus_morphology0.95389792
78MP0001119_abnormal_female_reproductive0.95243150
79MP0003705_abnormal_hypodermis_morpholog0.93963521
80MP0003763_abnormal_thymus_physiology0.93504970
81MP0002111_abnormal_tail_morphology0.92788557
82MP0001340_abnormal_eyelid_morphology0.92413926
83MP0000372_irregular_coat_pigmentation0.91966352
84MP0004147_increased_porphyrin_level0.91130417
85MP0006082_CNS_inflammation0.90190414
86MP0001293_anophthalmia0.90119990
87MP0002102_abnormal_ear_morphology0.89774629
88MP0003786_premature_aging0.89718807
89MP0002722_abnormal_immune_system0.87794331
90MP0001849_ear_inflammation0.85449081
91MP0005319_abnormal_enzyme/_coenzyme0.83569859
92MP0000689_abnormal_spleen_morphology0.81147587
93MP0005394_taste/olfaction_phenotype0.77863831
94MP0005499_abnormal_olfactory_system0.77863831
95MP0002405_respiratory_system_inflammati0.77674699
96MP0005310_abnormal_salivary_gland0.77374011
97MP0010307_abnormal_tumor_latency0.77121109
98MP0004087_abnormal_muscle_fiber0.76089288
99MP0003699_abnormal_female_reproductive0.74799994
100MP0002161_abnormal_fertility/fecundity0.74757688
101MP0003123_paternal_imprinting0.74519364
102MP0003861_abnormal_nervous_system0.74072988
103MP0008789_abnormal_olfactory_epithelium0.73538403
104MP0000462_abnormal_digestive_system0.73357791
105MP0001764_abnormal_homeostasis0.72710203
106MP0002429_abnormal_blood_cell0.72390519
107MP0002398_abnormal_bone_marrow0.72328640
108MP0005075_abnormal_melanosome_morpholog0.71999938
109MP0003315_abnormal_perineum_morphology0.70714063
110MP0000049_abnormal_middle_ear0.70136446
111MP0009765_abnormal_xenobiotic_induced0.69897417
112MP0005083_abnormal_biliary_tract0.69755915
113MP0005369_muscle_phenotype0.69046741
114MP0001661_extended_life_span0.65903966
115* MP0005195_abnormal_posterior_eye0.64768226
116MP0009053_abnormal_anal_canal0.64430647
117MP0004859_abnormal_synaptic_plasticity0.61228921
118MP0000759_abnormal_skeletal_muscle0.60903978
119MP0003252_abnormal_bile_duct0.60453320
120MP0001905_abnormal_dopamine_level0.58993757
121MP0003656_abnormal_erythrocyte_physiolo0.57829969
122MP0005551_abnormal_eye_electrophysiolog0.57261372
123MP0000537_abnormal_urethra_morphology0.54791174
124MP0006292_abnormal_olfactory_placode0.53286278
125MP0005085_abnormal_gallbladder_physiolo0.50144715
126MP0005187_abnormal_penis_morphology0.49187015
127MP0001915_intracranial_hemorrhage0.48831785
128MP0002089_abnormal_postnatal_growth/wei0.47992901
129MP0003566_abnormal_cell_adhesion0.47517716
130MP0002736_abnormal_nociception_after0.44897951
131MP0000747_muscle_weakness0.42533370
132MP0005360_urolithiasis0.41311811
133MP0002734_abnormal_mechanical_nocicepti0.41281990
134MP0002249_abnormal_larynx_morphology0.40580146
135MP0009780_abnormal_chondrocyte_physiolo0.40554997
136MP0003942_abnormal_urinary_system0.39848673
137MP0001879_abnormal_lymphatic_vessel0.38984215
138MP0004885_abnormal_endolymph0.37852904
139MP0003115_abnormal_respiratory_system0.36694642
140MP0001968_abnormal_touch/_nociception0.36300337
141MP0000751_myopathy0.35991991
142MP0002177_abnormal_outer_ear0.35145787
143MP0003787_abnormal_imprinting0.34300744
144MP0003329_amyloid_beta_deposits0.33938025
145MP0004134_abnormal_chest_morphology0.33857378
146MP0003635_abnormal_synaptic_transmissio0.33619641
147MP0004197_abnormal_fetal_growth/weight/0.33152577
148MP0001958_emphysema0.32518903
149MP0000428_abnormal_craniofacial_morphol0.31248427
150MP0009250_abnormal_appendicular_skeleto0.31020493
151MP0002925_abnormal_cardiovascular_devel0.29766939
152MP0001943_abnormal_respiration0.29749135
153MP0000465_gastrointestinal_hemorrhage0.29733313
154MP0005647_abnormal_sex_gland0.29496639
155MP0010234_abnormal_vibrissa_follicle0.29228721
156MP0004858_abnormal_nervous_system0.29034907
157MP0004811_abnormal_neuron_physiology0.27960752
158MP0002653_abnormal_ependyma_morphology0.27760620
159MP0003959_abnormal_lean_body0.27016176
160MP0005248_abnormal_Harderian_gland0.24979746
161MP0001784_abnormal_fluid_regulation0.24665971
162MP0002733_abnormal_thermal_nociception0.23945443
163MP0001614_abnormal_blood_vessel0.23577269
164MP0008770_decreased_survivor_rate0.22849878
165MP0002295_abnormal_pulmonary_circulatio0.22808917
166MP0002063_abnormal_learning/memory/cond0.22778388
167MP0008438_abnormal_cutaneous_collagen0.22651680
168MP0002106_abnormal_muscle_physiology0.22327627
169MP0005623_abnormal_meninges_morphology0.21878752
170MP0002128_abnormal_blood_circulation0.21800580
171MP0000955_abnormal_spinal_cord0.21636238
172MP0000266_abnormal_heart_morphology0.20528743
173MP0005257_abnormal_intraocular_pressure0.20420724
174MP0002152_abnormal_brain_morphology0.20312744
175MP0003567_abnormal_fetal_cardiomyocyte0.19979374
176MP0002163_abnormal_gland_morphology0.19386232
177MP0004084_abnormal_cardiac_muscle0.17904092
178MP0001324_abnormal_eye_pigmentation0.17425565
179MP0003075_altered_response_to0.16714055
180MP0002877_abnormal_melanocyte_morpholog0.16669418
181MP0010329_abnormal_lipoprotein_level0.16182046
182MP0004270_analgesia0.15932633
183MP0003122_maternal_imprinting0.15337055
184MP0002086_abnormal_extraembryonic_tissu0.15065469
185MP0005365_abnormal_bile_salt0.15021881
186MP0002081_perinatal_lethality0.14683260
187MP0000604_amyloidosis0.13532375

Predicted human phenotypes

RankGene SetZ-score
1Congenital cataract (HP:0000519)7.97034943
2Corneal dystrophy (HP:0001131)7.11901215
3Amblyopia (HP:0000646)6.94781208
4Anterior segment dysgenesis (HP:0007700)5.98173169
5Asplenia (HP:0001746)5.19791970
6Aplasia/Hypoplasia of the spleen (HP:0010451)4.78365007
7Abdominal situs inversus (HP:0003363)4.69450968
8Abnormality of abdominal situs (HP:0011620)4.69450968
9Stenosis of the external auditory canal (HP:0000402)4.48713274
10Polar cataract (HP:0010696)4.36139245
11Clumsiness (HP:0002312)3.94241479
12Abnormality of cells of the erythroid lineage (HP:0012130)3.83929092
13Reticulocytopenia (HP:0001896)3.74992015
14Microcornea (HP:0000482)3.60656111
15Carpal bone hypoplasia (HP:0001498)3.33545737
16Osteomalacia (HP:0002749)3.22603079
17Colon cancer (HP:0003003)3.11935706
18Microvesicular hepatic steatosis (HP:0001414)3.10940201
19Partial duplication of the phalanx of hand (HP:0009999)3.06145551
20Bilateral microphthalmos (HP:0007633)3.04519339
21Aplasia/Hypoplasia of the sacrum (HP:0008517)3.04315703
22Nuclear cataract (HP:0100018)27.6134289
23Zonular cataract (HP:0010920)24.3747417
24Increased IgM level (HP:0003496)2.99407301
25Premature ovarian failure (HP:0008209)2.94525697
26Iris coloboma (HP:0000612)2.88488206
27Partial duplication of thumb phalanx (HP:0009944)2.88297930
28Abnormal number of erythroid precursors (HP:0012131)2.87599269
29Eosinophilia (HP:0001880)2.85305167
30Thrombocytosis (HP:0001894)2.82029742
31Supernumerary spleens (HP:0009799)2.80857484
32Agnosia (HP:0010524)2.77915535
33Hypoplasia of the fovea (HP:0007750)2.71914676
34Aplasia/Hypoplasia of the fovea (HP:0008060)2.71914676
35Absent thumb (HP:0009777)2.64898140
36Abnormality of the fovea (HP:0000493)2.62874236
37Opacification of the corneal stroma (HP:0007759)2.58784955
38Irregular epiphyses (HP:0010582)2.57323350
39Metaphyseal cupping (HP:0003021)2.54515687
40Abnormality of the anterior chamber (HP:0000593)2.54481578
41Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.52571023
42Hyperglycinuria (HP:0003108)2.49907899
43Delayed epiphyseal ossification (HP:0002663)2.49858735
44Abnormality of the labia minora (HP:0012880)2.48987163
45Absent radius (HP:0003974)2.44521104
46Duplication of thumb phalanx (HP:0009942)2.43836809
47Rectal fistula (HP:0100590)2.33768434
48Rectovaginal fistula (HP:0000143)2.33768434
49Acute necrotizing encephalopathy (HP:0006965)2.33180736
50Vaginal fistula (HP:0004320)2.32947954
51Sclerocornea (HP:0000647)2.30220434
52Granulocytopenia (HP:0001913)2.29168783
53Aplasia involving forearm bones (HP:0009822)2.26130540
54Absent forearm bone (HP:0003953)2.26130540
55Transposition of the great arteries (HP:0001669)2.22835764
56Abnormal connection of the cardiac segments (HP:0011545)2.22835764
57Abnormal ventriculo-arterial connection (HP:0011563)2.22835764
58Intestinal fistula (HP:0100819)2.21806941
59Meckel diverticulum (HP:0002245)2.20474256
60Horseshoe kidney (HP:0000085)2.20225629
61Cerebral hypomyelination (HP:0006808)2.18756902
62Abnormality of the ileum (HP:0001549)2.16226909
63Facial cleft (HP:0002006)2.10138373
64Pallor (HP:0000980)2.08476025
65Proximal amyotrophy (HP:0007126)2.07730192
66Scapular winging (HP:0003691)2.07673493
67Macrocytic anemia (HP:0001972)2.06730337
68Abnormal umbilical cord blood vessels (HP:0011403)2.05468336
69Single umbilical artery (HP:0001195)2.05468336
70Abnormality of the fetal cardiovascular system (HP:0010948)2.05468336
71Panhypogammaglobulinemia (HP:0003139)2.03321346
72Congenital primary aphakia (HP:0007707)2.03119684
73Abnormal mitochondria in muscle tissue (HP:0008316)2.01467707
74Impulsivity (HP:0100710)2.01183913
75Hypoplasia of the capital femoral epiphysis (HP:0003090)1.99916360
76Absent epiphyses (HP:0010577)1.99133885
77Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.99133885
78Pancreatic cysts (HP:0001737)1.98038018
79Hypercortisolism (HP:0001578)1.95807279
80Abnormality of eosinophils (HP:0001879)1.95098179
81Anencephaly (HP:0002323)1.94968561
82Hypoplasia of the radius (HP:0002984)1.91681678
83Poor suck (HP:0002033)1.91597447
84Increased CSF lactate (HP:0002490)1.85845664
85Abnormality of the preputium (HP:0100587)1.85659986
86Absent hand (HP:0004050)1.85590412
87Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83708555
88Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83708555
89Neonatal short-limb short stature (HP:0008921)1.83175417
90Triphalangeal thumb (HP:0001199)1.79454872
91Posterior subcapsular cataract (HP:0007787)1.79158501
92Facial diplegia (HP:0001349)1.78029988
93Ectopic kidney (HP:0000086)1.77439034
94Basal cell carcinoma (HP:0002671)1.76860982
95Stomatitis (HP:0010280)1.75952569
96Abnormality of the alveolar ridges (HP:0006477)1.75393642
97Aplasia/Hypoplasia of the lens (HP:0008063)1.75043722
98Abnormal tarsal ossification (HP:0008369)1.74368717
99Mitochondrial inheritance (HP:0001427)1.73831606
100CNS hypomyelination (HP:0003429)1.73517982
101Birth length less than 3rd percentile (HP:0003561)1.72190545
102Microretrognathia (HP:0000308)1.71418379
103Gout (HP:0001997)1.71340093
104Septo-optic dysplasia (HP:0100842)1.70012274
105Abnormality of serine family amino acid metabolism (HP:0010894)1.69937666
106Abnormality of glycine metabolism (HP:0010895)1.69937666
107Synostosis of carpal bones (HP:0005048)1.68498953
108Abnormality of the musculature of the hand (HP:0001421)1.68196313
109Cortical visual impairment (HP:0100704)1.67236240
110Abnormal vertebral ossification (HP:0100569)1.67100913
111Cleft eyelid (HP:0000625)1.66253857
112Breech presentation (HP:0001623)1.66216627
113Abnormality of the renal collecting system (HP:0004742)1.66200789
114Abnormality of reticulocytes (HP:0004312)1.64407262
115Neonatal respiratory distress (HP:0002643)1.63851312
116Fetal akinesia sequence (HP:0001989)1.56357165
117Aplasia/Hypoplasia of the macula (HP:0008059)1.54300521
118Popliteal pterygium (HP:0009756)1.49105411
119Long clavicles (HP:0000890)1.48384561
120Aplasia/Hypoplasia affecting the retina (HP:0008061)1.46418712
121Aplasia of the musculature (HP:0100854)1.45998295
122Amniotic constriction ring (HP:0009775)1.40053042
123Abnormality of placental membranes (HP:0011409)1.40053042
124Akinesia (HP:0002304)1.34224210
125Leukocytosis (HP:0001974)1.31432998
126Difficulty walking (HP:0002355)1.25860539
127Hypoplastic nipples (HP:0002557)1.25407731
128Abnormality of the shoulder girdle musculature (HP:0001435)1.24770341
129Rib fusion (HP:0000902)1.10996928
130Fused cervical vertebrae (HP:0002949)1.06691794
131Symphalangism affecting the phalanges of the hand (HP:0009773)1.00274955
132Vertebral clefting (HP:0008428)0.97213845
133Subcapsular cataract (HP:0000523)0.92976566
134Abnormality of the labia majora (HP:0012881)0.90005026
135Aplasia/Hypoplasia involving the musculature (HP:0001460)0.86365053
136Exostoses (HP:0100777)0.81354521
137Chorioretinal coloboma (HP:0000567)0.78339980
138Pterygium (HP:0001059)0.77759045
139Malignant hyperthermia (HP:0002047)0.73190718
140Camptodactyly of toe (HP:0001836)0.71299936
141Lymphangioma (HP:0100764)0.70217024
142Thin ribs (HP:0000883)0.67771834
143Ependymoma (HP:0002888)0.67533777
144Hypoplastic heart (HP:0001961)0.66852208
145Abnormal number of incisors (HP:0011064)0.66654609
146Neoplasm of the heart (HP:0100544)0.66303354
147Severe visual impairment (HP:0001141)0.62224029
148Aplasia/Hypoplasia of the nipples (HP:0006709)0.58312794
149Dislocated radial head (HP:0003083)0.57163199
150Diminished movement (HP:0002374)0.55887124
151Pointed chin (HP:0000307)0.54368564
152Abnormality of the humeroradial joint (HP:0100744)0.54110632
153Cystic hygroma (HP:0000476)0.52793491
154Abnormality of the radial head (HP:0003995)0.52684579
155Annular pancreas (HP:0001734)0.51534446
156Split foot (HP:0001839)0.51435041
157Flexion contracture of toe (HP:0005830)0.50201310
158Joint contractures involving the joints of the feet (HP:0100492)0.50201310
159Hypoplastic pelvis (HP:0008839)0.49819121
160Muscle fiber splitting (HP:0003555)0.48951634
161Enlarged kidneys (HP:0000105)0.48929894
162Autosomal dominant inheritance (HP:0000006)0.48804635
163Abnormality of the astrocytes (HP:0100707)0.47966721
164Astrocytoma (HP:0009592)0.47966721
165Visceral angiomatosis (HP:0100761)0.46929902
166Hepatoblastoma (HP:0002884)0.45695854
167Broad nasal tip (HP:0000455)0.45320924
168Patellar aplasia (HP:0006443)0.45249065
169Abnormality of cochlea (HP:0000375)0.45092167
170Hamartoma of the eye (HP:0010568)0.43974470
171Skin nodule (HP:0200036)0.43867440
172Hyporeflexia of lower limbs (HP:0002600)0.42561695
173Hemangiomatosis (HP:0007461)0.42317167
174Hemiplegia (HP:0002301)0.42095304
175Neonatal hypoglycemia (HP:0001998)0.42079624
176Buphthalmos (HP:0000557)0.40695328
177Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.39760974
178Aplasia/Hypoplasia of the patella (HP:0006498)0.39539274
179Abnormality of the labia (HP:0000058)0.39417277
180Humeroradial synostosis (HP:0003041)0.37897391
181Synostosis involving the elbow (HP:0003938)0.37897391
182Abnormalities of placenta or umbilical cord (HP:0001194)0.37813092
183Deep venous thrombosis (HP:0002625)0.37326390
184Angiofibromas (HP:0010615)0.37115108
185Adenoma sebaceum (HP:0009720)0.37115108
186Exercise-induced muscle cramps (HP:0003710)0.36433811
187Exercise-induced myalgia (HP:0003738)0.34653055
188Hypopigmentation of the fundus (HP:0007894)0.34090214
189Abnormal pancreas size (HP:0012094)0.33653712
190Hyperthyroidism (HP:0000836)0.32511256
191Overgrowth (HP:0001548)0.32333020
192Vertebral fusion (HP:0002948)0.31766299
193Abnormality of the lumbar spine (HP:0100712)0.31672340

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.49767593
2BLK5.40654725
3LMTK25.35568370
4PBK4.77047894
5SGK14.19633385
6TESK23.39385844
7STK163.11381174
8STK393.04139907
9VRK22.96169301
10FLT32.94965481
11WNK42.87871422
12SMG12.85565801
13MST42.84734857
14NTRK12.66414170
15PRKG12.62979049
16PKN22.57150775
17DYRK32.51165251
18SIK12.29141735
19TRIB32.26565265
20PLK42.16758505
21SRPK12.10901034
22MAP4K12.10812323
23PASK1.99549063
24LRRK21.87220145
25IGF1R1.70058306
26CDC71.68294778
27BUB11.66083809
28PRKCB1.65383196
29PRKG21.63384116
30PRPF4B1.61069860
31PDGFRA1.61023657
32MET1.60102051
33TTK1.59031772
34MAPK101.46027074
35INSR1.44345789
36BRAF1.44150631
37SCYL21.41211288
38BMX1.37327646
39TYRO31.36773370
40STK41.36382237
41NME11.34901982
42CHEK21.32081822
43ZAP701.30937211
44MAP3K101.30659959
45FGR1.30408775
46EPHB21.28997803
47BRSK11.26050704
48CDK61.24380071
49PRKACB1.18979960
50ERBB21.18030968
51ICK1.16458062
52STK101.16315238
53PAK41.15416099
54TNK21.11905502
55FES1.11853944
56PNCK1.11692392
57PDK21.09004829
58PLK11.05421991
59PTK61.05044645
60FGFR41.04228893
61RPS6KA31.02211310
62FGFR21.01903634
63TXK0.98197179
64MATK0.97673337
65WNK10.95324427
66RIPK40.94137520
67TAF10.93505878
68TAOK30.91536388
69EPHA40.90992855
70ILK0.89539313
71BTK0.88572092
72AURKA0.87394045
73VRK10.85596212
74PRKCQ0.85040241
75PIM10.84539435
76ROCK20.83434707
77CAMKK10.81244920
78STK240.81175179
79CSF1R0.76848744
80PTK20.75507152
81PRKACG0.74204515
82ACVR1B0.71461143
83TAOK20.70568297
84AURKB0.69974825
85CAMK40.68519414
86DYRK1A0.67619050
87ATR0.67108573
88PAK60.64882416
89MAPKAPK50.64698605
90ITK0.64673368
91PKN10.63953276
92PLK30.61153864
93CSK0.60940838
94ZAK0.59418486
95PHKG10.59201351
96PHKG20.59201351
97RPS6KA20.58868869
98CAMK1G0.58208347
99CDK30.57095169
100CHEK10.56985679
101MAP3K90.54910045
102CSNK2A20.53855660
103GRK60.53498601
104PAK30.53012435
105BRSK20.52023425
106ROCK10.50986641
107SGK4940.50922294
108SGK2230.50922294
109LCK0.50312085
110UHMK10.49863342
111MAP3K110.49354701
112CDK70.48135282
113ATM0.47799399
114CDK190.46422174
115MKNK10.45707163
116NME20.44670164
117EPHA20.44386641
118FGFR10.44199115
119MINK10.43927385
120CSNK2A10.42894640
121KSR20.41501262
122MAP2K30.39193817
123CDK20.39093723
124LATS20.38673321
125LYN0.38444276
126TAOK10.37671191
127ALK0.37573992
128TBK10.37508605
129LATS10.36766218
130JAK30.35729092
131PAK20.35562649
132NEK10.35470052
133TYK20.35464051
134EGFR0.35060374
135RPS6KA10.34945045
136DYRK1B0.34758218
137CDK50.34384142
138RPS6KC10.34003099
139RPS6KL10.34003099
140CDK40.31237080
141HIPK20.31226173
142KDR0.30625318
143MAP3K80.30147283
144ADRBK10.29137154
145HCK0.27651334
146MAP3K10.27536113
147TTN0.27082889
148NEK20.26816945
149RPS6KA40.26448254
150PAK10.26048256
151MKNK20.26036443
152CSNK1E0.23056928
153DMPK0.22938216
154NEK90.22532367
155PTK2B0.22498590
156AKT20.22322818
157PDGFRB0.22038765
158MAPKAPK20.20551924
159RPS6KA60.20533761
160KSR10.20453584
161DAPK10.20256920
162MAP3K70.20091755
163CDK140.18900191
164PRKCA0.17746219
165PRKCH0.17531374
166DYRK20.16016809
167NTRK30.15750660
168FYN0.14836679
169DAPK20.14614113
170RPS6KB10.14396149
171SYK0.14313858
172CDK11A0.13875542
173PRKACA0.13341238

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034303.69631755
2DNA replication_Homo sapiens_hsa030303.59578807
3Base excision repair_Homo sapiens_hsa034103.55297783
4Small cell lung cancer_Homo sapiens_hsa052222.94478015
5Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.70756637
6Proteasome_Homo sapiens_hsa030502.57157509
7Homologous recombination_Homo sapiens_hsa034402.36996068
8RNA polymerase_Homo sapiens_hsa030202.29872869
9Central carbon metabolism in cancer_Homo sapiens_hsa052302.14212685
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.13991138
11Fanconi anemia pathway_Homo sapiens_hsa034602.10200628
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.07010404
13Hedgehog signaling pathway_Homo sapiens_hsa043402.02736051
14Non-homologous end-joining_Homo sapiens_hsa034502.02558815
15Nitrogen metabolism_Homo sapiens_hsa009102.01024144
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.00088330
17Spliceosome_Homo sapiens_hsa030401.94489447
18Basal cell carcinoma_Homo sapiens_hsa052171.93698102
19Oxidative phosphorylation_Homo sapiens_hsa001901.89795474
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.89576738
21Adherens junction_Homo sapiens_hsa045201.81291082
22Parkinsons disease_Homo sapiens_hsa050121.80546607
23Primary immunodeficiency_Homo sapiens_hsa053401.80188885
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.75839144
25Cyanoamino acid metabolism_Homo sapiens_hsa004601.73162075
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.72330658
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.69320101
28Pyrimidine metabolism_Homo sapiens_hsa002401.65809204
29mTOR signaling pathway_Homo sapiens_hsa041501.62776750
30Huntingtons disease_Homo sapiens_hsa050161.62261384
31Melanogenesis_Homo sapiens_hsa049161.62064796
32ECM-receptor interaction_Homo sapiens_hsa045121.61591835
33Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.59500466
34Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.55749564
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52104835
36Arginine biosynthesis_Homo sapiens_hsa002201.49956661
37Nucleotide excision repair_Homo sapiens_hsa034201.48362760
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.48052661
39Regulation of autophagy_Homo sapiens_hsa041401.46106009
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.45989549
41RNA transport_Homo sapiens_hsa030131.45658316
42Basal transcription factors_Homo sapiens_hsa030221.44581493
43Biosynthesis of amino acids_Homo sapiens_hsa012301.41895345
44Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.40038195
45Fatty acid degradation_Homo sapiens_hsa000711.35753963
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.34964459
47Insulin signaling pathway_Homo sapiens_hsa049101.33934429
48Proteoglycans in cancer_Homo sapiens_hsa052051.28878820
49Amoebiasis_Homo sapiens_hsa051461.28713043
50Glioma_Homo sapiens_hsa052141.22823345
51Circadian entrainment_Homo sapiens_hsa047131.19797987
52Wnt signaling pathway_Homo sapiens_hsa043101.17784666
53RNA degradation_Homo sapiens_hsa030181.14949528
54Ribosome_Homo sapiens_hsa030101.12720459
55Pentose phosphate pathway_Homo sapiens_hsa000301.12222194
56Bile secretion_Homo sapiens_hsa049761.10914116
57Glucagon signaling pathway_Homo sapiens_hsa049221.10803077
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.10694893
59Olfactory transduction_Homo sapiens_hsa047401.06542577
60Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.05019975
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.03561993
62Adipocytokine signaling pathway_Homo sapiens_hsa049201.02913589
63Focal adhesion_Homo sapiens_hsa045101.02443192
64Protein digestion and absorption_Homo sapiens_hsa049741.02443125
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.01205902
66GABAergic synapse_Homo sapiens_hsa047271.01140822
67Dorso-ventral axis formation_Homo sapiens_hsa043200.99888486
68Cell cycle_Homo sapiens_hsa041100.99384681
692-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99168919
70Fructose and mannose metabolism_Homo sapiens_hsa000510.98844153
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.97746891
72Long-term potentiation_Homo sapiens_hsa047200.97368244
73Synaptic vesicle cycle_Homo sapiens_hsa047210.95211150
74Pathways in cancer_Homo sapiens_hsa052000.92090100
75One carbon pool by folate_Homo sapiens_hsa006700.90598142
76Gap junction_Homo sapiens_hsa045400.90446641
77Longevity regulating pathway - mammal_Homo sapiens_hsa042110.88962674
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.88596322
79mRNA surveillance pathway_Homo sapiens_hsa030150.87973920
80Galactose metabolism_Homo sapiens_hsa000520.87071216
81Chronic myeloid leukemia_Homo sapiens_hsa052200.87066150
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.86080961
83Drug metabolism - other enzymes_Homo sapiens_hsa009830.85719905
84Hippo signaling pathway_Homo sapiens_hsa043900.84838483
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.84474231
86Selenocompound metabolism_Homo sapiens_hsa004500.83608064
87Arginine and proline metabolism_Homo sapiens_hsa003300.83386377
88Carbon metabolism_Homo sapiens_hsa012000.83260200
89Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82874353
90Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.82408023
91Renal cell carcinoma_Homo sapiens_hsa052110.81831795
92Glycosaminoglycan degradation_Homo sapiens_hsa005310.81790856
93Thyroid cancer_Homo sapiens_hsa052160.81600181
94Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.81316756
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.81237293
96Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.80489366
97Alzheimers disease_Homo sapiens_hsa050100.80202801
98Purine metabolism_Homo sapiens_hsa002300.79439709
99Tight junction_Homo sapiens_hsa045300.78381935
100Fatty acid metabolism_Homo sapiens_hsa012120.77937844
101Insulin resistance_Homo sapiens_hsa049310.77329593
102Axon guidance_Homo sapiens_hsa043600.77207957
103Toxoplasmosis_Homo sapiens_hsa051450.76396663
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73821839
105Sulfur metabolism_Homo sapiens_hsa009200.73641050
106Butanoate metabolism_Homo sapiens_hsa006500.69432085
107Prion diseases_Homo sapiens_hsa050200.67411404
108Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.67291348
109Glutathione metabolism_Homo sapiens_hsa004800.66986388
110Gastric acid secretion_Homo sapiens_hsa049710.66747494
111Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.66462002
112Cholinergic synapse_Homo sapiens_hsa047250.65947450
113Notch signaling pathway_Homo sapiens_hsa043300.65189716
114Type II diabetes mellitus_Homo sapiens_hsa049300.64292466
115Estrogen signaling pathway_Homo sapiens_hsa049150.64039910
116Sulfur relay system_Homo sapiens_hsa041220.63607719
117Vibrio cholerae infection_Homo sapiens_hsa051100.63151617
118Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.63032155
119Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.63021057
120Neurotrophin signaling pathway_Homo sapiens_hsa047220.62908409
121Starch and sucrose metabolism_Homo sapiens_hsa005000.62873078
122Tryptophan metabolism_Homo sapiens_hsa003800.62198873
123Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.61662481
124Steroid biosynthesis_Homo sapiens_hsa001000.60903581
125AMPK signaling pathway_Homo sapiens_hsa041520.60086671
126Dopaminergic synapse_Homo sapiens_hsa047280.59548594
127Rap1 signaling pathway_Homo sapiens_hsa040150.59478717
128TGF-beta signaling pathway_Homo sapiens_hsa043500.59034872
129Glutamatergic synapse_Homo sapiens_hsa047240.58895720
130MicroRNAs in cancer_Homo sapiens_hsa052060.55870587
131Collecting duct acid secretion_Homo sapiens_hsa049660.55734478
132Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.55663679
133Bladder cancer_Homo sapiens_hsa052190.55331925
134Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55155421
135PPAR signaling pathway_Homo sapiens_hsa033200.54689804
136Insulin secretion_Homo sapiens_hsa049110.53217366
137Complement and coagulation cascades_Homo sapiens_hsa046100.51231983
138Folate biosynthesis_Homo sapiens_hsa007900.51209808
139Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.50972476
140Legionellosis_Homo sapiens_hsa051340.50103127
141Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.49946321
142ErbB signaling pathway_Homo sapiens_hsa040120.49359207
143Metabolic pathways_Homo sapiens_hsa011000.47995451
144Oxytocin signaling pathway_Homo sapiens_hsa049210.47979481
145Dilated cardiomyopathy_Homo sapiens_hsa054140.47761888
146Fatty acid elongation_Homo sapiens_hsa000620.47413214
147Maturity onset diabetes of the young_Homo sapiens_hsa049500.47322153
148Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47228262
149PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45966346
150Graft-versus-host disease_Homo sapiens_hsa053320.44646904
151N-Glycan biosynthesis_Homo sapiens_hsa005100.44356144
152Epstein-Barr virus infection_Homo sapiens_hsa051690.36244732
153Mineral absorption_Homo sapiens_hsa049780.36210796
154Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.35272632
155Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34329290
156Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32760091
157Cardiac muscle contraction_Homo sapiens_hsa042600.31803624
158HIF-1 signaling pathway_Homo sapiens_hsa040660.30641162
159Vitamin B6 metabolism_Homo sapiens_hsa007500.28572491
160HTLV-I infection_Homo sapiens_hsa051660.27033667
161p53 signaling pathway_Homo sapiens_hsa041150.26832692
162Antigen processing and presentation_Homo sapiens_hsa046120.26543939
163Shigellosis_Homo sapiens_hsa051310.22752810
164Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.22152368
165Oocyte meiosis_Homo sapiens_hsa041140.19895112
166T cell receptor signaling pathway_Homo sapiens_hsa046600.14261971
167Glycerophospholipid metabolism_Homo sapiens_hsa005640.13175489
168Viral myocarditis_Homo sapiens_hsa054160.12312249
169Vitamin digestion and absorption_Homo sapiens_hsa049770.06954430
170Acute myeloid leukemia_Homo sapiens_hsa052210.06114373
171Viral carcinogenesis_Homo sapiens_hsa052030.05856549
172Endocytosis_Homo sapiens_hsa041440.04870260
173B cell receptor signaling pathway_Homo sapiens_hsa046620.02907450

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