CRYBB3

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: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lens morphogenesis in camera-type eye (GO:0002089)9.83830357
2response to muscle activity (GO:0014850)9.26708682
3cytolysis (GO:0019835)8.37245326
4camera-type eye development (GO:0043010)8.27201266
5* visual perception (GO:0007601)8.21314935
6* sensory perception of light stimulus (GO:0050953)8.12290238
7muscle cell cellular homeostasis (GO:0046716)7.58383447
8histone H3-K9 demethylation (GO:0033169)7.20818888
9protein refolding (GO:0042026)6.80032114
10cellular response to osmotic stress (GO:0071470)6.67522776
11eye development (GO:0001654)6.64731568
12regulation of protein sumoylation (GO:0033233)6.45302325
13cell migration involved in gastrulation (GO:0042074)6.40293145
14bile acid and bile salt transport (GO:0015721)6.39311781
15regulation of mesoderm development (GO:2000380)6.14761366
16negative regulation of activin receptor signaling pathway (GO:0032926)6.05692659
17myofibril assembly (GO:0030239)5.59759783
18nodal signaling pathway (GO:0038092)5.27020720
19sensory organ development (GO:0007423)5.07306971
20sequestering of extracellular ligand from receptor (GO:0035581)4.97550805
21mitochondrial fragmentation involved in apoptotic process (GO:0043653)4.91361676
22negative regulation of fibrinolysis (GO:0051918)4.59799857
23proline biosynthetic process (GO:0006561)4.56796644
24positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.50710442
25response to salt stress (GO:0009651)4.34189635
26insulin-like growth factor receptor signaling pathway (GO:0048009)4.32566475
27erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.30158454
28L-phenylalanine metabolic process (GO:0006558)4.30158454
29L-ascorbic acid metabolic process (GO:0019852)4.29929208
30positive regulation of dendritic spine morphogenesis (GO:0061003)4.25116562
31semaphorin-plexin signaling pathway (GO:0071526)4.24678317
32regulation of activin receptor signaling pathway (GO:0032925)4.21048901
33erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.08288989
34L-phenylalanine catabolic process (GO:0006559)4.08288989
35sarcomere organization (GO:0045214)4.06396029
36regulation of protein activation cascade (GO:2000257)4.06335437
37regulation of fibrinolysis (GO:0051917)4.05473011
38very-low-density lipoprotein particle assembly (GO:0034379)4.00816423
39lens development in camera-type eye (GO:0002088)34.3858498
40desmosome organization (GO:0002934)3.99717461
41regulation of complement activation (GO:0030449)3.99145654
42maternal placenta development (GO:0001893)3.96379836
43negative regulation of homotypic cell-cell adhesion (GO:0034111)3.95153184
44plasma lipoprotein particle assembly (GO:0034377)3.92285143
45regulation of plasminogen activation (GO:0010755)3.89233771
46protein carboxylation (GO:0018214)3.85450298
47peptidyl-glutamic acid carboxylation (GO:0017187)3.85450298
48bundle of His cell to Purkinje myocyte communication (GO:0086069)3.77064499
49* sensory perception (GO:0007600)3.74111441
50phospholipid efflux (GO:0033700)3.73204195
51cholesterol efflux (GO:0033344)3.72124937
52anterior/posterior axis specification, embryo (GO:0008595)3.68099741
534-hydroxyproline metabolic process (GO:0019471)3.62335181
54regulation of myoblast differentiation (GO:0045661)3.59527068
55protein-lipid complex assembly (GO:0065005)3.45013069
56positive regulation of SMAD protein import into nucleus (GO:0060391)3.40557755
57lung morphogenesis (GO:0060425)3.40050141
58urea metabolic process (GO:0019627)3.36425733
59fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.35234519
60protein homotrimerization (GO:0070207)3.34629025
61proline metabolic process (GO:0006560)3.33812505
62fibrinolysis (GO:0042730)3.30787893
63protein autoprocessing (GO:0016540)3.30713864
64regulation of stem cell maintenance (GO:2000036)3.28205903
65signal transduction involved in regulation of gene expression (GO:0023019)3.27524154
66regulation of cholesterol esterification (GO:0010872)3.26931678
67intestinal cholesterol absorption (GO:0030299)3.26239939
68maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.21585163
69urea cycle (GO:0000050)3.20163636
70regulation of Rac protein signal transduction (GO:0035020)3.15253383
71positive regulation of cellular amine metabolic process (GO:0033240)3.14803173
72fusion of sperm to egg plasma membrane (GO:0007342)3.12257366
73negative regulation of cholesterol transport (GO:0032375)3.12062598
74negative regulation of sterol transport (GO:0032372)3.12062598
75complement activation, alternative pathway (GO:0006957)3.11559334
76regulation of cholesterol biosynthetic process (GO:0045540)3.09346035
77nitrogen cycle metabolic process (GO:0071941)3.09337631
78lung epithelium development (GO:0060428)3.08065012
79negative regulation of keratinocyte proliferation (GO:0010839)3.00575673
80hemidesmosome assembly (GO:0031581)3.00311076
81lens fiber cell development (GO:0070307)24.8415857
82phospholipid scrambling (GO:0017121)2.98530861
83axonemal dynein complex assembly (GO:0070286)2.93978527
84extracellular negative regulation of signal transduction (GO:1900116)2.92672871
85extracellular regulation of signal transduction (GO:1900115)2.92672871
86water transport (GO:0006833)2.90687088
87positive regulation of wound healing (GO:0090303)2.89591858
88amino-acid betaine transport (GO:0015838)2.89403771
89carnitine transport (GO:0015879)2.89403771
90quaternary ammonium group transport (GO:0015697)2.89284612
91reverse cholesterol transport (GO:0043691)2.89158942
92SMAD protein signal transduction (GO:0060395)2.88152280
93regulation of SMAD protein import into nucleus (GO:0060390)2.87978189
94high-density lipoprotein particle remodeling (GO:0034375)2.86315051
95blood coagulation, intrinsic pathway (GO:0007597)2.84571548
96plasma lipoprotein particle organization (GO:0071827)2.82026924
97mammary gland alveolus development (GO:0060749)2.81471277
98drug transport (GO:0015893)2.81235275
99plasma lipoprotein particle remodeling (GO:0034369)2.81142407
100protein-lipid complex remodeling (GO:0034368)2.81142407
101macromolecular complex remodeling (GO:0034367)2.81142407
102apoptotic process involved in morphogenesis (GO:0060561)2.80053238
103cellular glucuronidation (GO:0052695)2.79987016
104histone lysine demethylation (GO:0070076)2.78881394
105anatomical structure regression (GO:0060033)2.77912080
106dopaminergic neuron differentiation (GO:0071542)2.77537602
107regulation of platelet aggregation (GO:0090330)2.77423797
108peptidyl-proline hydroxylation (GO:0019511)2.77056536
109epoxygenase P450 pathway (GO:0019373)2.76449437
110phosphate ion transmembrane transport (GO:0035435)2.76265734
111positive regulation of calcium ion transport into cytosol (GO:0010524)2.75173231
112uronic acid metabolic process (GO:0006063)2.75049722
113glucuronate metabolic process (GO:0019585)2.75049722
114regulation of cholesterol metabolic process (GO:0090181)2.73945923
115triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.73453177
116regulation of skeletal muscle fiber development (GO:0048742)2.72759368
117regulation of cholesterol homeostasis (GO:2000188)2.72362419
118flavonoid metabolic process (GO:0009812)2.67633854
119anterior/posterior axis specification (GO:0009948)2.67282739
120biotin metabolic process (GO:0006768)2.66931891
121negative regulation of androgen receptor signaling pathway (GO:0060766)2.66530798
122polyketide metabolic process (GO:0030638)2.64139190
123doxorubicin metabolic process (GO:0044598)2.64139190
124daunorubicin metabolic process (GO:0044597)2.64139190
125regulation of tight junction assembly (GO:2000810)2.63621295
126regulation of apoptotic cell clearance (GO:2000425)2.63479425
127negative regulation of blood coagulation (GO:0030195)2.63144643
128negative regulation of hemostasis (GO:1900047)2.63144643
129lipoprotein metabolic process (GO:0042157)2.63055088
130protein-lipid complex subunit organization (GO:0071825)2.62924473
131GDP-mannose metabolic process (GO:0019673)2.62561315
132nucleotide-sugar biosynthetic process (GO:0009226)2.61722375
133L-alpha-amino acid transmembrane transport (GO:1902475)2.61407029
134histone demethylation (GO:0016577)2.60412672
135low-density lipoprotein particle remodeling (GO:0034374)2.59022128
136epithelial cell development (GO:0002064)2.56237421
137activation of JUN kinase activity (GO:0007257)2.52264865
138apoptotic process involved in development (GO:1902742)2.50118485
139fluid transport (GO:0042044)2.48930784
140intermediate filament cytoskeleton organization (GO:0045104)2.48561905
141cellular response to calcium ion (GO:0071277)2.47087299
142dorsal/ventral axis specification (GO:0009950)2.43867143
143intermediate filament-based process (GO:0045103)2.39029800
144glutamine family amino acid biosynthetic process (GO:0009084)2.37348117
145skeletal muscle organ development (GO:0060538)2.35837309
146establishment of apical/basal cell polarity (GO:0035089)2.31671699
147protein demethylation (GO:0006482)2.29712662
148protein dealkylation (GO:0008214)2.29712662
149response to activity (GO:0014823)2.28597485
150embryonic process involved in female pregnancy (GO:0060136)2.26198738
151carnitine shuttle (GO:0006853)2.25063148
152regulation of translational fidelity (GO:0006450)2.23192334
153negative regulation of platelet activation (GO:0010544)2.21631330
154convergent extension (GO:0060026)2.21037015
155mating behavior (GO:0007617)2.19603517
156actomyosin structure organization (GO:0031032)2.18703438
157positive regulation of protein homooligomerization (GO:0032464)2.18638967
158regulation of myotube differentiation (GO:0010830)2.17260711
159oxidative demethylation (GO:0070989)2.16912039
160hypotonic response (GO:0006971)2.16664576
161cerebellar granule cell differentiation (GO:0021707)2.16233066
162positive regulation of dendritic spine development (GO:0060999)2.13410818
163asymmetric protein localization (GO:0008105)2.12126735
164basement membrane organization (GO:0071711)2.12015252
165positive regulation of dendrite morphogenesis (GO:0050775)2.11555794
166collecting duct development (GO:0072044)2.11427422
167respiratory tube development (GO:0030323)2.10936280
168lung-associated mesenchyme development (GO:0060484)2.09569411
169diaphragm development (GO:0060539)2.08122286
170response to osmotic stress (GO:0006970)2.07110915
171transcription from mitochondrial promoter (GO:0006390)2.06883688
172negative regulation of cell size (GO:0045792)2.05056341
173negative regulation of JAK-STAT cascade (GO:0046426)2.03747190
174neuronal stem cell maintenance (GO:0097150)2.03103829
175establishment of monopolar cell polarity (GO:0061162)2.02059051
176establishment or maintenance of monopolar cell polarity (GO:0061339)2.02059051
177regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.00313673
178lens fiber cell differentiation (GO:0070306)19.6633539
179negative regulation of potassium ion transmembrane transport (GO:1901380)1.97716718
180cell-cell junction assembly (GO:0007043)1.96444919
181protein localization to cell surface (GO:0034394)1.95951822
182protein trimerization (GO:0070206)1.95474210
183fatty acid transmembrane transport (GO:1902001)1.94182567
184regulation of protein homooligomerization (GO:0032462)1.89004763
185regulation of branching involved in prostate gland morphogenesis (GO:0060687)1.88327367
186negative regulation of hormone metabolic process (GO:0032351)1.87833976
187negative regulation of hormone biosynthetic process (GO:0032353)1.87833976
188prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.80605380
189planar cell polarity pathway involved in neural tube closure (GO:0090179)1.80167961
190negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.79661257
191protein retention in ER lumen (GO:0006621)1.79574299
192negative regulation of fatty acid biosynthetic process (GO:0045717)1.78165807
193regulation of integrin activation (GO:0033623)1.77211562
194regulation of bile acid biosynthetic process (GO:0070857)1.76308477

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse8.71136599
2ZNF652_21678463_ChIP-ChIP_ZR75-1_Human4.75411694
3CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.65497991
4* ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.52601020
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse4.14519130
6ESR2_21235772_ChIP-Seq_MCF-7_Human3.21769332
7PCGF2_27294783_Chip-Seq_NPCs_Mouse3.13115033
8RXR_22158963_ChIP-Seq_LIVER_Mouse3.03829465
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.85124277
10PPARA_22158963_ChIP-Seq_LIVER_Mouse2.82800055
11IKZF1_21737484_ChIP-ChIP_HCT116_Human2.76939156
12EGR1_19032775_ChIP-ChIP_M12_Human2.71474741
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.66841935
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.60247424
15SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.27360595
16HIF1A_21447827_ChIP-Seq_MCF-7_Human2.25388796
17ESR1_15608294_ChIP-ChIP_MCF-7_Human2.15896494
18STAT6_21828071_ChIP-Seq_BEAS2B_Human2.15783296
19LXR_22158963_ChIP-Seq_LIVER_Mouse2.13163585
20CLOCK_20551151_ChIP-Seq_293T_Human2.10771681
21SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.07478704
22PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.06950599
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.04067889
24LXR_22292898_ChIP-Seq_THP-1_Human1.98675844
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.97836382
26ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.97266110
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93243540
28NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.85493175
29SOX2_27498859_Chip-Seq_STOMACH_Mouse1.85206942
30KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.77775216
31TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.75032624
32KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.72825878
33PPAR_26484153_Chip-Seq_NCI-H1993_Human1.71685528
34GATA6_25053715_ChIP-Seq_YYC3_Human1.71407235
35NANOG_16153702_ChIP-ChIP_HESCs_Human1.70619843
36CTCF_27219007_Chip-Seq_Bcells_Human1.62674410
37NFE2_27457419_Chip-Seq_LIVER_Mouse1.62430575
38GATA3_24758297_ChIP-Seq_MCF-7_Human1.61491633
39TP53_20018659_ChIP-ChIP_R1E_Mouse1.60812590
40CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.59303513
41FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.58597347
42EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57865648
43KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.57329989
44KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.57329989
45KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.57329989
46RARA_24833708_ChIP-Seq_LIVER_Mouse1.55484235
47EGR1_23403033_ChIP-Seq_LIVER_Mouse1.55351114
48P63_26484246_Chip-Seq_KERATINOCYTES_Human1.55252294
49HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.54691409
50TCF3_18692474_ChIP-Seq_MEFs_Mouse1.54569684
51SMC4_20622854_ChIP-Seq_HELA_Human1.54177971
52RING1B_27294783_Chip-Seq_NPCs_Mouse1.54069354
53TBX3_20139965_ChIP-Seq_MESCs_Mouse1.53448382
54TBX3_20139965_ChIP-Seq_ESCs_Mouse1.52771980
55SMAD3_21741376_ChIP-Seq_HESCs_Human1.52673012
56SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.51908253
57RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.51091464
58ATF3_27146783_Chip-Seq_COLON_Human1.50725287
59SRY_22984422_ChIP-ChIP_TESTIS_Rat1.50584639
60ZNF263_19887448_ChIP-Seq_K562_Human1.48594729
61RUNX1_27514584_Chip-Seq_MCF-7_Human1.48582852
62* CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.47566073
63P68_20966046_ChIP-Seq_HELA_Human1.47210153
64TP63_17297297_ChIP-ChIP_HaCaT_Human1.46447565
65SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.45397920
66EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44565406
67RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44565406
68SUZ12_27294783_Chip-Seq_NPCs_Mouse1.44160306
69SMAD4_21741376_ChIP-Seq_HESCs_Human1.43543074
70TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.43015263
71HNF4A_19822575_ChIP-Seq_HepG2_Human1.42958083
72GATA4_25053715_ChIP-Seq_YYC3_Human1.42544163
73SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.41419690
74TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.40321163
75* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38406421
76RNF2_27304074_Chip-Seq_ESCs_Mouse1.36612543
77WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.35248099
78SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.34934847
79DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.34616046
80E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.33901701
81TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.33146055
82KDM2B_26808549_Chip-Seq_K562_Human1.32270269
83ERG_21242973_ChIP-ChIP_JURKAT_Human1.32222129
84NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.31067862
85CTCF_18555785_Chip-Seq_ESCs_Mouse1.29110326
86EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.28754742
87EZH2_22144423_ChIP-Seq_EOC_Human1.26965796
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.26015175
89UBF1/2_26484160_Chip-Seq_HMECs_Human1.25939592
90HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.25035004
91KDM2B_26808549_Chip-Seq_SUP-B15_Human1.24861064
92TP63_22573176_ChIP-Seq_HFKS_Human1.23616017
93JARID2_20064375_ChIP-Seq_MESCs_Mouse1.22289995
94HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.21438217
95ESR1_20079471_ChIP-ChIP_T-47D_Human1.20280482
96EGR1_19374776_ChIP-ChIP_THP-1_Human1.20257766
97KLF4_18555785_ChIP-Seq_MESCs_Mouse1.20079528
98* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.18821147
99ELK3_25401928_ChIP-Seq_HUVEC_Human1.18166456
100EED_16625203_ChIP-ChIP_MESCs_Mouse1.18157892
101VDR_22108803_ChIP-Seq_LS180_Human1.18026651
102NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.16466716
103SMAD1_18555785_Chip-Seq_ESCs_Mouse1.16339396
104TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16245623
105ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.15561191
106ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15451369
107BCOR_27268052_Chip-Seq_Bcells_Human1.14916562
108SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12404631
109SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12404631
110SOX9_24532713_ChIP-Seq_HFSC_Mouse1.12197334
111KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.11817745
112RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.11166176
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.10428740
114CDX2_20551321_ChIP-Seq_CACO-2_Human1.10272381
115TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09803487
116EZH2_27294783_Chip-Seq_NPCs_Mouse1.09482499
117RING1B_27294783_Chip-Seq_ESCs_Mouse1.09452745
118CBX2_27304074_Chip-Seq_ESCs_Mouse1.08813373
119SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.08731886
120OCT4_18692474_ChIP-Seq_MEFs_Mouse1.08686467
121TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.08295680
122JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08154923
123RUNX1_27457419_Chip-Seq_LIVER_Mouse1.07912847
124SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06879359
125OCT4_19829295_ChIP-Seq_ESCs_Human1.06644125
126JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06367620
127SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06325904
128TCF3_18692474_ChIP-Seq_MESCs_Mouse1.05136444
129RARB_24833708_ChIP-Seq_LIVER_Mouse1.03499986
130SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.03220637
131SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.02815109
132PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.02678017
133JARID2_20075857_ChIP-Seq_MESCs_Mouse1.02617053
134KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.02105394
135THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.01634750
136GATA1_19941827_ChIP-Seq_MEL86_Mouse1.01413412
137* TET1_21451524_ChIP-Seq_MESCs_Mouse1.01223643
138STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01073313
139MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.00361498
140E2F1_20622854_ChIP-Seq_HELA_Human1.00260467
141NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.99561955
142CREB1_26743006_Chip-Seq_LNCaP_Human0.99482760
143RXRA_24833708_ChIP-Seq_LIVER_Mouse0.99187171
144KLF5_25053715_ChIP-Seq_YYC3_Human0.98984410
145MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98811067
146NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.98581145
147* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98049960
148KDM2B_26808549_Chip-Seq_JURKAT_Human0.97508350
149SALL4_18804426_ChIP-ChIP_XEN_Mouse0.97338357
150P300_27058665_Chip-Seq_ZR-75-30cells_Human0.96613394
151SPI1_26923725_Chip-Seq_HPCs_Mouse0.96043231
152TCF7_22412390_ChIP-Seq_EML_Mouse0.95748119
153SA1_27219007_Chip-Seq_ERYTHROID_Human0.95526175
154* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95364890
155KDM2B_26808549_Chip-Seq_DND41_Human0.94734380
156ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94648491
157SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.94544342
158BCL6_27268052_Chip-Seq_Bcells_Human0.93554850
159CTNNB1_20460455_ChIP-Seq_HCT116_Human0.93355877
160MYC_19079543_ChIP-ChIP_MESCs_Mouse0.93181260
161ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93180702
162PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92933284
163POU5F1_16518401_ChIP-PET_MESCs_Mouse0.92920458
164SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.92306405
165LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.92046436
166RACK7_27058665_Chip-Seq_MCF-7_Human0.91378883
167OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91187378
168ZFP281_27345836_Chip-Seq_ESCs_Mouse0.91114776
169* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90954412
170PU1_27457419_Chip-Seq_LIVER_Mouse0.90453500
171CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89898264
172CTCF_21964334_Chip-Seq_Bcells_Human0.88423995
173FOXA2_19822575_ChIP-Seq_HepG2_Human0.88087752
174PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.87749037
175MYC_27129775_Chip-Seq_CORNEA_Mouse0.87390445
176KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.87327071
177EZH2_27304074_Chip-Seq_ESCs_Mouse0.87059464
178TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.86794735
179NANOG_16518401_ChIP-PET_MESCs_Mouse0.85668600
180NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.84275594
181EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.82987819

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005193_abnormal_anterior_eye8.84967909
2MP0005253_abnormal_eye_physiology5.19638451
3MP0005360_urolithiasis4.06441309
4MP0001286_abnormal_eye_development3.77356661
5MP0002092_abnormal_eye_morphology3.65767445
6MP0003941_abnormal_skin_development3.43537365
7MP0005197_abnormal_uvea_morphology3.32294101
8MP0005391_vision/eye_phenotype3.30863058
9MP0000749_muscle_degeneration3.30092711
10MP0004133_heterotaxia2.95049955
11MP0001348_abnormal_lacrimal_gland2.82647862
12MP0000566_synostosis2.70283407
13MP0005409_darkened_coat_color2.60741320
14MP0001666_abnormal_nutrient_absorption2.41551088
15MP0008875_abnormal_xenobiotic_pharmacok2.37570128
16MP0008004_abnormal_stomach_pH2.36161581
17MP0002090_abnormal_vision2.09610454
18MP0002697_abnormal_eye_size13.9355320
19MP0001346_abnormal_lacrimal_gland1.97493682
20MP0010234_abnormal_vibrissa_follicle1.94296063
21MP0005410_abnormal_fertilization1.92638994
22MP0002108_abnormal_muscle_morphology1.78396523
23MP0002269_muscular_atrophy1.71684837
24MP0004185_abnormal_adipocyte_glucose1.67540940
25MP0006054_spinal_hemorrhage1.63197698
26MP0000579_abnormal_nail_morphology1.59616762
27MP0005330_cardiomyopathy1.54537411
28MP0000003_abnormal_adipose_tissue1.51706486
29MP0000762_abnormal_tongue_morphology1.51472517
30MP0005666_abnormal_adipose_tissue1.44742868
31MP0005451_abnormal_body_composition1.42579222
32MP0003191_abnormal_cellular_cholesterol1.36832339
33MP0003453_abnormal_keratinocyte_physiol1.33865395
34MP0004272_abnormal_basement_membrane1.30620905
35MP0002638_abnormal_pupillary_reflex1.30338848
36MP0005375_adipose_tissue_phenotype1.28265041
37MP0005195_abnormal_posterior_eye1.27821318
38MP0010329_abnormal_lipoprotein_level1.23103709
39MP0010678_abnormal_skin_adnexa1.22460102
40MP0003806_abnormal_nucleotide_metabolis1.22068543
41MP0009840_abnormal_foam_cell1.21746525
42MP0002254_reproductive_system_inflammat1.20779923
43MP0005023_abnormal_wound_healing1.20756179
44MP0002234_abnormal_pharynx_morphology1.20389143
45MP0002796_impaired_skin_barrier1.16756594
46MP0005332_abnormal_amino_acid1.15284077
47MP0005083_abnormal_biliary_tract1.14792093
48MP0001340_abnormal_eyelid_morphology1.13894176
49MP0000383_abnormal_hair_follicle1.13851736
50MP0000678_abnormal_parathyroid_gland1.13230445
51MP0000467_abnormal_esophagus_morphology1.11607686
52MP0002233_abnormal_nose_morphology1.09218459
53MP0001881_abnormal_mammary_gland1.08559030
54MP0001849_ear_inflammation1.05323306
55MP0000609_abnormal_liver_physiology1.05263796
56MP0004782_abnormal_surfactant_physiolog1.03349725
57MP0003868_abnormal_feces_composition1.02818550
58MP0004019_abnormal_vitamin_homeostasis1.00687589
59MP0010368_abnormal_lymphatic_system1.00317903
60MP0006072_abnormal_retinal_apoptosis0.99195314
61MP0002132_abnormal_respiratory_system0.97771256
62MP0004233_abnormal_muscle_weight0.96939212
63MP0005551_abnormal_eye_electrophysiolog0.96244054
64MP0001764_abnormal_homeostasis0.95075995
65MP0005501_abnormal_skin_physiology0.93696945
66MP0000013_abnormal_adipose_tissue0.93270191
67MP0005380_embryogenesis_phenotype0.92616533
68MP0001672_abnormal_embryogenesis/_devel0.92616533
69MP0001661_extended_life_span0.92099607
70MP0002139_abnormal_hepatobiliary_system0.89882124
71MP0010630_abnormal_cardiac_muscle0.89415875
72MP0008932_abnormal_embryonic_tissue0.88457666
73MP0002249_abnormal_larynx_morphology0.88399797
74MP0001730_embryonic_growth_arrest0.86562051
75MP0002653_abnormal_ependyma_morphology0.84308794
76MP0003315_abnormal_perineum_morphology0.82061779
77MP0002009_preneoplasia0.81992721
78MP0004957_abnormal_blastocyst_morpholog0.81973851
79MP0005499_abnormal_olfactory_system0.81197115
80MP0005394_taste/olfaction_phenotype0.81197115
81MP0000049_abnormal_middle_ear0.80016422
82MP0003195_calcinosis0.79135646
83MP0002098_abnormal_vibrissa_morphology0.78823449
84MP0003705_abnormal_hypodermis_morpholog0.76013140
85MP0002118_abnormal_lipid_homeostasis0.75913508
86MP0003950_abnormal_plasma_membrane0.75904661
87MP0001873_stomach_inflammation0.75002747
88MP0003091_abnormal_cell_migration0.74621719
89MP0002932_abnormal_joint_morphology0.74013323
90MP0005085_abnormal_gallbladder_physiolo0.73888713
91MP0004858_abnormal_nervous_system0.73416298
92MP0003718_maternal_effect0.73067313
93MP0003943_abnormal_hepatobiliary_system0.72790814
94MP0000627_abnormal_mammary_gland0.72539223
95MP0002735_abnormal_chemical_nociception0.72364883
96MP0001216_abnormal_epidermal_layer0.71616657
97MP0003136_yellow_coat_color0.71015796
98MP0001299_abnormal_eye_distance/0.70863612
99MP0005319_abnormal_enzyme/_coenzyme0.69856065
100MP0004087_abnormal_muscle_fiber0.69802041
101MP0009643_abnormal_urine_homeostasis0.68705307
102MP0002085_abnormal_embryonic_tissue0.68658305
103MP0005369_muscle_phenotype0.68276243
104MP0003283_abnormal_digestive_organ0.68246952
105MP0009053_abnormal_anal_canal0.68025040
106MP0005171_absent_coat_pigmentation0.67912602
107MP0006292_abnormal_olfactory_placode0.67279437
108MP0003119_abnormal_digestive_system0.66012592
109MP0003984_embryonic_growth_retardation0.65856195
110MP0009278_abnormal_bone_marrow0.62928294
111MP0001324_abnormal_eye_pigmentation0.60820356
112MP0010030_abnormal_orbit_morphology0.58170568
113MP0000759_abnormal_skeletal_muscle0.57235978
114MP0003252_abnormal_bile_duct0.55610056
115MP0005248_abnormal_Harderian_gland0.54876992
116MP0004197_abnormal_fetal_growth/weight/0.54449791
117MP0008057_abnormal_DNA_replication0.51882410
118MP0005076_abnormal_cell_differentiation0.47770868
119MP0003656_abnormal_erythrocyte_physiolo0.46440522
120MP0003566_abnormal_cell_adhesion0.45010786
121MP0005365_abnormal_bile_salt0.44478836
122MP0002282_abnormal_trachea_morphology0.44123052
123MP0003942_abnormal_urinary_system0.42242337
124MP0003115_abnormal_respiratory_system0.42235311
125MP0002089_abnormal_postnatal_growth/wei0.41090018
126MP0002877_abnormal_melanocyte_morpholog0.40112016
127MP0002086_abnormal_extraembryonic_tissu0.39966213
128MP0001915_intracranial_hemorrhage0.37598359
129MP0001943_abnormal_respiration0.36949314
130MP0000955_abnormal_spinal_cord0.36675157
131MP0002177_abnormal_outer_ear0.36134452
132MP0009780_abnormal_chondrocyte_physiolo0.35548756
133MP0001502_abnormal_circadian_rhythm0.35308886
134MP0002084_abnormal_developmental_patter0.35170110
135MP0004885_abnormal_endolymph0.34721562
136MP0003959_abnormal_lean_body0.34196347
137MP0004134_abnormal_chest_morphology0.34013009
138MP0001784_abnormal_fluid_regulation0.33863890
139MP0000751_myopathy0.33124733
140MP0003567_abnormal_fetal_cardiomyocyte0.32759298
141MP0000537_abnormal_urethra_morphology0.32733774
142MP0002733_abnormal_thermal_nociception0.32050391
143MP0003137_abnormal_impulse_conducting0.31944683
144MP0002925_abnormal_cardiovascular_devel0.31482057
145MP0003123_paternal_imprinting0.31242893
146MP0004145_abnormal_muscle_electrophysio0.30889366
147MP0002163_abnormal_gland_morphology0.30788996
148MP0000747_muscle_weakness0.30481960
149MP0005647_abnormal_sex_gland0.30440661
150MP0009250_abnormal_appendicular_skeleto0.28743516
151MP0000428_abnormal_craniofacial_morphol0.28596221
152MP0004859_abnormal_synaptic_plasticity0.26312124
153MP0001879_abnormal_lymphatic_vessel0.26097485
154MP0002116_abnormal_craniofacial_bone0.25871891
155MP0003935_abnormal_craniofacial_develop0.24916175
156MP0003890_abnormal_embryonic-extraembry0.24815339
157MP0004811_abnormal_neuron_physiology0.24774481
158MP0005187_abnormal_penis_morphology0.24616212
159MP0000266_abnormal_heart_morphology0.23691504
160MP0002106_abnormal_muscle_physiology0.23187747
161MP0000639_abnormal_adrenal_gland0.22833150
162MP0005220_abnormal_exocrine_pancreas0.22464820
163MP0002152_abnormal_brain_morphology0.22314267
164MP0003172_abnormal_lysosome_physiology0.22155618
165MP0002734_abnormal_mechanical_nocicepti0.22082951
166MP0001905_abnormal_dopamine_level0.21649763
167MP0002063_abnormal_learning/memory/cond0.21605990
168MP0004264_abnormal_extraembryonic_tissu0.20323385
169MP0002295_abnormal_pulmonary_circulatio0.20117923
170MP0002111_abnormal_tail_morphology0.19811584

Predicted human phenotypes

RankGene SetZ-score
1Congenital cataract (HP:0000519)8.36323850
2Corneal dystrophy (HP:0001131)7.55039221
3Amblyopia (HP:0000646)7.32572353
4Double outlet right ventricle (HP:0001719)6.55008418
5Congenital malformation of the right heart (HP:0011723)6.55008418
6Anterior segment dysgenesis (HP:0007700)6.16238895
7Oligodactyly (hands) (HP:0001180)5.75268105
8Chin dimple (HP:0010751)5.31143698
9Down-sloping shoulders (HP:0200021)4.74213809
10Esophageal atresia (HP:0002032)4.72206166
11Anal stenosis (HP:0002025)4.69643445
12Polar cataract (HP:0010696)4.61290541
13Abnormality of the parathyroid morphology (HP:0011766)4.52025722
14Clumsiness (HP:0002312)4.49740600
15Deep venous thrombosis (HP:0002625)4.32308518
16Oligodactyly (HP:0012165)4.23680563
17Flat acetabular roof (HP:0003180)4.15125818
18Microcornea (HP:0000482)3.91039916
19Mixed hearing impairment (HP:0000410)3.85704870
20Aqueductal stenosis (HP:0002410)3.65074839
21Bifid scrotum (HP:0000048)3.60974224
22Deep palmar crease (HP:0006191)3.58429661
23Prolonged partial thromboplastin time (HP:0003645)3.34613892
24Abnormality of monocarboxylic acid metabolism (HP:0010996)3.33409531
25Aplasia/Hypoplasia of the sacrum (HP:0008517)3.28300547
26Labial hypoplasia (HP:0000066)3.27345880
27Absent radius (HP:0003974)3.15242390
28Iris coloboma (HP:0000612)3.09735319
29Hypoplastic female external genitalia (HP:0012815)3.09538304
30* Nuclear cataract (HP:0100018)26.0106234
31* Zonular cataract (HP:0010920)24.2420027
32Back pain (HP:0003418)2.99613340
33Abnormality of aromatic amino acid family metabolism (HP:0004338)2.99564535
34Aplasia involving forearm bones (HP:0009822)2.91662956
35Absent forearm bone (HP:0003953)2.91662956
36Eosinophilia (HP:0001880)2.86440919
37Complement deficiency (HP:0004431)2.84563475
38Opacification of the corneal stroma (HP:0007759)2.73808569
39Abnormal ventriculo-arterial connection (HP:0011563)2.73636494
40Transposition of the great arteries (HP:0001669)2.73636494
41Abnormal connection of the cardiac segments (HP:0011545)2.73636494
42Abnormality of abdominal situs (HP:0011620)2.68444356
43Abdominal situs inversus (HP:0003363)2.68444356
44Anophthalmia (HP:0000528)2.66927699
45Hypobetalipoproteinemia (HP:0003563)2.63839695
46Hemivertebrae (HP:0002937)2.60601515
47Abnormality of the anterior chamber (HP:0000593)2.55441164
48Abnormality of the distal phalanges of the toes (HP:0010182)2.54729776
49Sclerocornea (HP:0000647)2.44523267
50Congenital primary aphakia (HP:0007707)2.39880932
51Abnormality of complement system (HP:0005339)2.37999647
52Right ventricular cardiomyopathy (HP:0011663)2.34194833
53Hemorrhage of the eye (HP:0011885)2.33561270
54Anosmia (HP:0000458)2.26405286
55Granulocytopenia (HP:0001913)2.25140850
56Gastrointestinal atresia (HP:0002589)2.19744672
57Hypercholesterolemia (HP:0003124)2.17979819
58Proximal amyotrophy (HP:0007126)2.17664688
59Joint hemorrhage (HP:0005261)2.16317591
60Vascular calcification (HP:0004934)2.15566019
61Hypoplasia of the ulna (HP:0003022)2.15346283
62Horseshoe kidney (HP:0000085)2.12983948
63Ankyloglossia (HP:0010296)2.11952408
64Abnormality of glutamine family amino acid metabolism (HP:0010902)2.11508732
65Posterior subcapsular cataract (HP:0007787)2.10647197
66Abnormality of carpal bone ossification (HP:0006257)2.10073673
67Preauricular skin tag (HP:0000384)2.05043847
68Scapular winging (HP:0003691)2.04510994
69Hypolipoproteinemia (HP:0010981)2.04447299
70Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.04322970
71Absent epiphyses (HP:0010577)2.04322970
72Overfolded helix (HP:0000396)2.03065317
73Abnormal ciliary motility (HP:0012262)2.02388972
74Abnormally folded helix (HP:0008544)2.01118565
75Popliteal pterygium (HP:0009756)2.00545247
76Split hand (HP:0001171)1.99296926
77Xanthomatosis (HP:0000991)1.99274867
78Irregular epiphyses (HP:0010582)1.98668309
79Glomerulonephritis (HP:0000099)1.96603833
80Broad face (HP:0000283)1.96484543
81Abnormal respiratory motile cilium physiology (HP:0012261)1.95923737
82Abnormality of the pubic bones (HP:0003172)1.95685803
83Aplasia/Hypoplasia of the lens (HP:0008063)1.94740230
84Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.94386661
85Laryngomalacia (HP:0001601)1.93774446
86Rib fusion (HP:0000902)1.92425249
87Abnormal tarsal ossification (HP:0008369)1.92168065
88Hypoplasia of the capital femoral epiphysis (HP:0003090)1.91960398
89Abnormality of the common coagulation pathway (HP:0010990)1.91441255
90Abnormality of eosinophils (HP:0001879)1.90420607
91Aplasia of the musculature (HP:0100854)1.89972421
92Abnormal respiratory epithelium morphology (HP:0012253)1.89180729
93Abnormal respiratory motile cilium morphology (HP:0005938)1.89180729
94Cleft eyelid (HP:0000625)1.87880004
95Abnormality of the intrinsic pathway (HP:0010989)1.85873335
96Cupped ear (HP:0000378)1.84755217
97Rhinitis (HP:0012384)1.82442094
98Fetal akinesia sequence (HP:0001989)1.82279729
99Vaginal fistula (HP:0004320)1.81086311
100Aplasia/Hypoplasia of the ulna (HP:0006495)1.78875566
101Cardiovascular calcification (HP:0011915)1.78395494
102Hypoalphalipoproteinemia (HP:0003233)1.76988287
103Mitral stenosis (HP:0001718)1.75890773
104Short thumb (HP:0009778)1.75887812
105Aplasia/Hypoplasia of the macula (HP:0008059)1.71911646
106Abnormality of pyrimidine metabolism (HP:0004353)1.71487939
107Abnormal ossification of hand bones (HP:0005921)1.70093833
108Neonatal respiratory distress (HP:0002643)1.69914304
109Short humerus (HP:0005792)1.69620625
110Bifid tongue (HP:0010297)1.69235850
111Skin tags (HP:0010609)1.65423498
112Progressive hearing impairment (HP:0001730)1.65301939
113Widely patent fontanelles and sutures (HP:0004492)1.64556644
114Aplasia/Hypoplasia affecting the retina (HP:0008061)1.62848848
115Abnormality of placental membranes (HP:0011409)1.62376873
116Amniotic constriction ring (HP:0009775)1.62376873
117Abnormal hand bone ossification (HP:0010660)1.61511669
118Microvesicular hepatic steatosis (HP:0001414)1.56100903
119Focal segmental glomerulosclerosis (HP:0000097)1.55985351
120Missing ribs (HP:0000921)1.55683298
121Aplasia/Hypoplasia of the earlobes (HP:0009906)1.54844520
122Milia (HP:0001056)1.53414156
123Long clavicles (HP:0000890)1.50130233
124Akinesia (HP:0002304)1.46740977
125Hypoplastic nipples (HP:0002557)1.36027211
126Difficulty walking (HP:0002355)1.29944618
127Abnormality of the shoulder girdle musculature (HP:0001435)1.21905523
128Fused cervical vertebrae (HP:0002949)1.19058539
129Leukocytosis (HP:0001974)1.18459374
130Vertebral clefting (HP:0008428)1.18027077
131Subcapsular cataract (HP:0000523)1.10479689
132Symphalangism affecting the phalanges of the hand (HP:0009773)1.09959061
133Aplasia/Hypoplasia involving the musculature (HP:0001460)1.08644509
134Annular pancreas (HP:0001734)1.07239217
135Abnormality of the labia majora (HP:0012881)1.02778244
136Pterygium (HP:0001059)0.95119408
137Thin ribs (HP:0000883)0.91778970
138Severe visual impairment (HP:0001141)0.90830601
139Abnormal number of incisors (HP:0011064)0.89157936
140Malignant hyperthermia (HP:0002047)0.87048959
141Diminished movement (HP:0002374)0.84022767
142Chorioretinal coloboma (HP:0000567)0.83029538
143Cystic hygroma (HP:0000476)0.80710114
144Hypoplastic heart (HP:0001961)0.80386489
145Exostoses (HP:0100777)0.77091852
146Ependymoma (HP:0002888)0.75921505
147Patellar aplasia (HP:0006443)0.72091027
148Turricephaly (HP:0000262)0.71248397
149Neoplasm of the heart (HP:0100544)0.69964586
150Astrocytoma (HP:0009592)0.69013389
151Abnormality of the astrocytes (HP:0100707)0.69013389
152Pancreatic islet-cell hyperplasia (HP:0004510)0.67757414
153Camptodactyly of toe (HP:0001836)0.66626350
154Aplasia/Hypoplasia of the patella (HP:0006498)0.63511557
155Vertebral fusion (HP:0002948)0.63325400
156Broad nasal tip (HP:0000455)0.63127808
157Coronal craniosynostosis (HP:0004440)0.61869625
158Lymphangioma (HP:0100764)0.61157261
159Large for gestational age (HP:0001520)0.59689352
160Hamartoma (HP:0010566)0.57632981
161Aplasia/Hypoplasia of the nipples (HP:0006709)0.56496744
162Congenital glaucoma (HP:0001087)0.55900701
163Split foot (HP:0001839)0.55848487
164Exercise-induced myalgia (HP:0003738)0.54629202
165Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.54527006
166Aplasia/Hypoplasia involving the carpal bones (HP:0006502)0.53858961
167Abnormality of the aortic arch (HP:0012303)0.53598984
168Autosomal dominant inheritance (HP:0000006)0.53436061
169Enlarged kidneys (HP:0000105)0.53217803
170Abnormality of the labia (HP:0000058)0.53107800
171Congenital hip dislocation (HP:0001374)0.52779994
172Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.52281176
173Dislocated radial head (HP:0003083)0.51814802
174Chorioretinal atrophy (HP:0000533)0.51703229
175Hamartoma of the eye (HP:0010568)0.51598625
176Abnormality of the pancreatic islet cells (HP:0006476)0.51563956
177Abnormality of endocrine pancreas physiology (HP:0012093)0.51563956
178Intestinal atresia (HP:0011100)0.51473736
179Mucopolysacchariduria (HP:0008155)0.50228585
180Urinary glycosaminoglycan excretion (HP:0003541)0.50228585
181Alacrima (HP:0000522)0.49965469
182Hepatoblastoma (HP:0002884)0.49876525
183Abnormality of the nasal septum (HP:0000419)0.49138780
184Cerebral aneurysm (HP:0004944)0.48952871
185Alopecia of scalp (HP:0002293)0.48607295
186Abnormality of the humeroradial joint (HP:0100744)0.48009309
187Abnormality of the radial head (HP:0003995)0.47265708
188Ulnar bowing (HP:0003031)0.45951950
189Amelogenesis imperfecta (HP:0000705)0.45771522
190Abnormal hemoglobin (HP:0011902)0.45560999
191Muscle fiber splitting (HP:0003555)0.45355700
192Rectal fistula (HP:0100590)0.45224755

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERBB46.68400844
2MAP2K66.64734534
3MST1R4.73233513
4ICK4.18195791
5SGK13.74837284
6BLK3.72309071
7ACVR1B3.03928494
8DDR22.76859256
9PDGFRA2.63741951
10MAPK152.61576062
11CDK122.52629720
12FLT32.48469311
13BRD42.46114629
14WNK42.44655646
15PDK22.41224220
16NTRK12.31412397
17SIK32.23487549
18STK392.19561415
19MST42.13250902
20TESK12.08771926
21PBK2.07241649
22PRKG12.03514694
23MAP3K61.91189987
24SIK11.90470149
25UHMK11.83627223
26EEF2K1.83471824
27TRIB31.78872306
28IRAK31.78706531
29SMG11.77838782
30ERN11.70737060
31NME11.69751454
32FGR1.68791434
33PINK11.57546293
34FGFR41.56969041
35CDK61.56801523
36RIPK11.49924863
37MET1.48069754
38MAP3K111.47439070
39MAPK101.41812904
40NME21.38966651
41INSR1.38632712
42TYRO31.31776463
43MAP3K101.31543627
44BMX1.26950091
45PRKCB1.26920377
46MATK1.26420809
47IGF1R1.22942318
48STK38L1.22877417
49SRPK11.22455228
50PKN21.18784161
51EPHA21.17250917
52PHKG11.15368041
53PHKG21.15368041
54DAPK11.13835061
55EPHB21.09926135
56STK241.09654238
57DYRK1B1.08964454
58BMPR1B1.07857082
59HIPK21.07344284
60LATS21.07033293
61MAP3K91.06968461
62PTK21.06022754
63CSK1.02035528
64PRKD21.00239275
65LMTK20.98676675
66RPS6KA30.98176851
67CDC42BPA0.96623902
68RPS6KC10.95265501
69RPS6KL10.95265501
70PRKACB0.93030672
71ERBB20.90610095
72MAP3K120.90528809
73CAMK1D0.89602711
74ZAP700.87725697
75GSK3A0.85551683
76YES10.82933607
77NEK60.82106310
78PRKG20.81548162
79STK160.80558375
80BRSK20.78706674
81LRRK20.75678009
82WNK10.74669232
83RPS6KA60.73705333
84IRAK20.73055102
85PRKACG0.72932769
86TGFBR10.72707853
87TRIM280.71378605
88MAPKAPK50.68964157
89PDPK10.67633498
90AKT30.67453821
91LATS10.65984132
92DYRK30.65728090
93MAPKAPK30.65393325
94PTK60.62241181
95RPS6KA10.61977866
96MAP2K30.57460788
97TRPM70.55220000
98PAK40.54722797
99PAK60.54721079
100WNK30.54553517
101ERBB30.53666797
102EGFR0.51647373
103MELK0.51483343
104PRKAA20.51342753
105CSNK2A20.50589383
106STK100.49525408
107TTN0.48959862
108PDGFRB0.47993961
109MAP3K70.46701878
110PNCK0.45709800
111MAP3K30.45688485
112DYRK20.44250312
113RET0.44141641
114PAK30.42693194
115FGFR10.42488622
116MAP3K20.42298888
117EPHA40.42157542
118MAP3K80.41282899
119RPS6KB10.40269039
120BRSK10.39998531
121MAP4K20.39848294
122AKT20.39725668
123SCYL20.39581079
124PRKCQ0.38819641
125PKN10.37831777
126RPS6KB20.37243333
127PRKAA10.37150516
128SGK30.36214569
129PRPF4B0.35478226
130ROCK20.35404731
131MTOR0.34999253
132PDK10.34581286
133ALK0.34096223
134ILK0.34081964
135PIK3CA0.33333422
136PRKD30.33015446
137FGFR30.32791956
138MARK20.32462087
139PTK2B0.32380734
140MAPKAPK20.32013656
141BCR0.31948977
142RPS6KA40.31482091
143TGFBR20.30985376
144MAPK110.30618924
145CAMKK10.30500995
146FER0.30398736
147RPS6KA20.30199386
148CAMK1G0.27880683
149CDK50.27465973
150IRAK10.27193916
151MAP2K10.27186213
152PRKCI0.27147321
153SGK2230.26192691
154SGK4940.26192691
155CSNK1E0.25590739
156PRKCH0.24182999
157PAK20.24140060
158ADRBK10.22686549
159CDK70.22308949
160INSRR0.21767251
161PIM20.21576984
162PIM10.21389559
163AURKA0.21083776
164CDK40.20927356

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049503.35207764
2Phenylalanine metabolism_Homo sapiens_hsa003603.16234980
3Hedgehog signaling pathway_Homo sapiens_hsa043403.04788740
4Complement and coagulation cascades_Homo sapiens_hsa046102.94551325
5Fatty acid biosynthesis_Homo sapiens_hsa000612.92620590
6Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.74377121
7Adherens junction_Homo sapiens_hsa045202.57455774
8mTOR signaling pathway_Homo sapiens_hsa041502.45138325
9Basal cell carcinoma_Homo sapiens_hsa052172.24097094
10Small cell lung cancer_Homo sapiens_hsa052222.09938878
11Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.94438712
12Arginine and proline metabolism_Homo sapiens_hsa003301.93378091
13Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.89949504
14Hippo signaling pathway_Homo sapiens_hsa043901.88954440
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.87929887
16Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.87637852
17Retinol metabolism_Homo sapiens_hsa008301.86586634
18Fat digestion and absorption_Homo sapiens_hsa049751.84881791
19Wnt signaling pathway_Homo sapiens_hsa043101.77024517
20Fructose and mannose metabolism_Homo sapiens_hsa000511.76493542
21Drug metabolism - other enzymes_Homo sapiens_hsa009831.76321912
22Histidine metabolism_Homo sapiens_hsa003401.75524726
23Longevity regulating pathway - mammal_Homo sapiens_hsa042111.73920329
24Tyrosine metabolism_Homo sapiens_hsa003501.73406892
25Vitamin digestion and absorption_Homo sapiens_hsa049771.73035180
26Pyruvate metabolism_Homo sapiens_hsa006201.72141173
27Chemical carcinogenesis_Homo sapiens_hsa052041.69854474
28Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.64492988
29Circadian rhythm_Homo sapiens_hsa047101.62757530
30Central carbon metabolism in cancer_Homo sapiens_hsa052301.60906664
31PPAR signaling pathway_Homo sapiens_hsa033201.57109783
32Caffeine metabolism_Homo sapiens_hsa002321.57029124
33Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.54771649
34Arginine biosynthesis_Homo sapiens_hsa002201.51135246
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48786469
36Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.48418058
37Fatty acid metabolism_Homo sapiens_hsa012121.45179985
38Melanogenesis_Homo sapiens_hsa049161.42634482
39Biosynthesis of amino acids_Homo sapiens_hsa012301.42170671
40ABC transporters_Homo sapiens_hsa020101.41955449
41Insulin signaling pathway_Homo sapiens_hsa049101.37415480
42Dorso-ventral axis formation_Homo sapiens_hsa043201.36884751
43Steroid hormone biosynthesis_Homo sapiens_hsa001401.35091319
44Carbon metabolism_Homo sapiens_hsa012001.33879943
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.33385656
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.32909690
47Notch signaling pathway_Homo sapiens_hsa043301.29272294
48Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.28187940
49Tight junction_Homo sapiens_hsa045301.26228249
50Nitrogen metabolism_Homo sapiens_hsa009101.24130822
51Sulfur metabolism_Homo sapiens_hsa009201.17767824
52Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.16683725
53Primary bile acid biosynthesis_Homo sapiens_hsa001201.16530558
54Bladder cancer_Homo sapiens_hsa052191.12846087
55TGF-beta signaling pathway_Homo sapiens_hsa043501.12149326
56Glucagon signaling pathway_Homo sapiens_hsa049221.11514536
57beta-Alanine metabolism_Homo sapiens_hsa004101.11136766
58Proteoglycans in cancer_Homo sapiens_hsa052051.10858269
59Phototransduction_Homo sapiens_hsa047441.09117690
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.08649240
61Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07247005
62Folate biosynthesis_Homo sapiens_hsa007901.05949043
63GABAergic synapse_Homo sapiens_hsa047271.05101105
64Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02229447
65Gap junction_Homo sapiens_hsa045401.02141111
66Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.01405031
67Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.00984816
68Lysine degradation_Homo sapiens_hsa003101.00114769
69Insulin secretion_Homo sapiens_hsa049110.98844575
70Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98190575
71Pentose phosphate pathway_Homo sapiens_hsa000300.97079461
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.94549927
73AMPK signaling pathway_Homo sapiens_hsa041520.88585828
74Sulfur relay system_Homo sapiens_hsa041220.87057383
75Vitamin B6 metabolism_Homo sapiens_hsa007500.86523300
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.86006618
77Starch and sucrose metabolism_Homo sapiens_hsa005000.84434794
78Peroxisome_Homo sapiens_hsa041460.83329702
79ErbB signaling pathway_Homo sapiens_hsa040120.83269770
80Focal adhesion_Homo sapiens_hsa045100.82240745
81Renin-angiotensin system_Homo sapiens_hsa046140.82087521
82Synaptic vesicle cycle_Homo sapiens_hsa047210.81257960
83Other glycan degradation_Homo sapiens_hsa005110.80447302
84Glioma_Homo sapiens_hsa052140.79037121
852-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.77621727
86Olfactory transduction_Homo sapiens_hsa047400.77170633
87mRNA surveillance pathway_Homo sapiens_hsa030150.76741706
88Propanoate metabolism_Homo sapiens_hsa006400.75147083
89Estrogen signaling pathway_Homo sapiens_hsa049150.74505479
90Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.73446853
91ECM-receptor interaction_Homo sapiens_hsa045120.71371873
92Bile secretion_Homo sapiens_hsa049760.70952541
93Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.70621847
94Galactose metabolism_Homo sapiens_hsa000520.70089530
95Pathways in cancer_Homo sapiens_hsa052000.69861787
96VEGF signaling pathway_Homo sapiens_hsa043700.69697476
97N-Glycan biosynthesis_Homo sapiens_hsa005100.69690890
98Protein digestion and absorption_Homo sapiens_hsa049740.69381394
99Circadian entrainment_Homo sapiens_hsa047130.68591762
100Thyroid cancer_Homo sapiens_hsa052160.68169501
101Steroid biosynthesis_Homo sapiens_hsa001000.68164543
102MicroRNAs in cancer_Homo sapiens_hsa052060.67053818
103Chronic myeloid leukemia_Homo sapiens_hsa052200.65472148
104Amoebiasis_Homo sapiens_hsa051460.64416479
105Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62853991
106Vibrio cholerae infection_Homo sapiens_hsa051100.62702594
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.61574313
108Choline metabolism in cancer_Homo sapiens_hsa052310.60972471
109Type II diabetes mellitus_Homo sapiens_hsa049300.60325404
110Insulin resistance_Homo sapiens_hsa049310.60319965
111Amphetamine addiction_Homo sapiens_hsa050310.59459375
112alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.59422116
113Prion diseases_Homo sapiens_hsa050200.57954707
114Glutathione metabolism_Homo sapiens_hsa004800.57309492
115Dopaminergic synapse_Homo sapiens_hsa047280.57022801
116Mineral absorption_Homo sapiens_hsa049780.55527702
117Glycerolipid metabolism_Homo sapiens_hsa005610.54708137
118PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53441987
119Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52999138
120Long-term potentiation_Homo sapiens_hsa047200.52374340
121AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.51549352
122Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50611372
123Butanoate metabolism_Homo sapiens_hsa006500.50604169
124Tryptophan metabolism_Homo sapiens_hsa003800.49004287
125Adipocytokine signaling pathway_Homo sapiens_hsa049200.47853145
126Axon guidance_Homo sapiens_hsa043600.47826910
127Fatty acid degradation_Homo sapiens_hsa000710.47723623
128Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47013047
129Rap1 signaling pathway_Homo sapiens_hsa040150.43704396
130Cysteine and methionine metabolism_Homo sapiens_hsa002700.43467632
131Cholinergic synapse_Homo sapiens_hsa047250.43335189
132Glycosaminoglycan degradation_Homo sapiens_hsa005310.43132066
133Endometrial cancer_Homo sapiens_hsa052130.42880183
134Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42626513
135Linoleic acid metabolism_Homo sapiens_hsa005910.42472541
136Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42414039
137Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42236662
138Thyroid hormone synthesis_Homo sapiens_hsa049180.42214340
139Arachidonic acid metabolism_Homo sapiens_hsa005900.40583993
140Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40512736
141Long-term depression_Homo sapiens_hsa047300.39905906
142Metabolic pathways_Homo sapiens_hsa011000.39298453
143Cocaine addiction_Homo sapiens_hsa050300.38875102
144Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.38870688
145Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.38482758
146Fatty acid elongation_Homo sapiens_hsa000620.38429591
147Endocytosis_Homo sapiens_hsa041440.28366027

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