CRYBB1

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, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)8.33707434
2* sensory perception of light stimulus (GO:0050953)8.23697723
3camera-type eye development (GO:0043010)8.05267050
4cytolysis (GO:0019835)7.98407208
5histone H3-K9 demethylation (GO:0033169)7.47010865
6muscle cell cellular homeostasis (GO:0046716)7.44203035
7protein refolding (GO:0042026)7.43990228
8bile acid and bile salt transport (GO:0015721)6.91778820
9cellular response to osmotic stress (GO:0071470)6.73803334
10regulation of protein sumoylation (GO:0033233)6.71388102
11eye development (GO:0001654)6.50968156
12myofibril assembly (GO:0030239)6.15314192
13negative regulation of interleukin-12 production (GO:0032695)5.15210146
14sensory organ development (GO:0007423)4.98334828
15glycosphingolipid catabolic process (GO:0046479)4.96619469
16regulation of mononuclear cell migration (GO:0071675)4.93003247
17positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.90018785
18response to salt stress (GO:0009651)4.73145154
19negative regulation of homotypic cell-cell adhesion (GO:0034111)4.70757957
20response to peptidoglycan (GO:0032494)4.66866505
21insulin-like growth factor receptor signaling pathway (GO:0048009)4.54554223
22positive regulation of chemokine biosynthetic process (GO:0045080)4.53593882
23neutrophil activation involved in immune response (GO:0002283)4.51929771
24cellular response to arsenic-containing substance (GO:0071243)4.47225911
25regulation of vitamin D biosynthetic process (GO:0060556)4.45476173
26amino sugar catabolic process (GO:0046348)4.44858623
27glycolipid catabolic process (GO:0019377)4.43742203
28sarcomere organization (GO:0045214)4.40449450
29N-acetylneuraminate metabolic process (GO:0006054)4.33572160
30monocyte chemotaxis (GO:0002548)4.21113652
31positive regulation of heat generation (GO:0031652)4.17165497
32regulation of myoblast differentiation (GO:0045661)4.04532185
33lens development in camera-type eye (GO:0002088)35.9562307
34negative regulation of nitric oxide biosynthetic process (GO:0045019)3.94528540
35regulation of fever generation (GO:0031620)3.94148737
36oligosaccharide catabolic process (GO:0009313)3.92265910
37ceramide catabolic process (GO:0046514)3.92008971
38regulation of chemokine biosynthetic process (GO:0045073)3.86182383
39regulation of cytokine secretion involved in immune response (GO:0002739)3.84940147
40regulation of interferon-alpha production (GO:0032647)3.83974245
41* sensory perception (GO:0007600)3.82642135
42branching involved in labyrinthine layer morphogenesis (GO:0060670)3.81817030
43adhesion of symbiont to host cell (GO:0044650)3.81110539
44virion attachment to host cell (GO:0019062)3.81110539
45lipopolysaccharide-mediated signaling pathway (GO:0031663)3.80882039
46negative regulation of cytokine production involved in immune response (GO:0002719)3.79759763
47membrane lipid catabolic process (GO:0046466)3.71707948
48regulation of podosome assembly (GO:0071801)3.70554477
49protein homotrimerization (GO:0070207)3.69521525
50macrophage activation involved in immune response (GO:0002281)3.67412319
51sphingolipid catabolic process (GO:0030149)3.62983005
52NIK/NF-kappaB signaling (GO:0038061)3.62088053
53immunoglobulin mediated immune response (GO:0016064)3.60980945
54cellular response to thyroid hormone stimulus (GO:0097067)3.60257152
55adenosine receptor signaling pathway (GO:0001973)3.56426287
56positive regulation of dendritic spine morphogenesis (GO:0061003)3.54501016
57regulation of platelet aggregation (GO:0090330)3.53573312
58regulation of Rac protein signal transduction (GO:0035020)3.51463563
59lung epithelium development (GO:0060428)3.49239321
60T-helper 1 type immune response (GO:0042088)3.47812540
61myeloid dendritic cell differentiation (GO:0043011)3.45575225
62regulation of macrophage chemotaxis (GO:0010758)3.45382753
63positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.41959261
64adhesion of symbiont to host (GO:0044406)3.35524795
65regulation of vitamin metabolic process (GO:0030656)3.34503401
66eosinophil chemotaxis (GO:0048245)3.34284071
67regulation of mast cell degranulation (GO:0043304)3.29162534
68water transport (GO:0006833)3.24498348
69positive regulation of interferon-alpha production (GO:0032727)3.22955812
70myeloid dendritic cell activation (GO:0001773)3.22346296
71macrophage differentiation (GO:0030225)3.21967099
72positive regulation of monocyte chemotaxis (GO:0090026)3.21086792
73low-density lipoprotein particle clearance (GO:0034383)3.20447015
74regulation of chronic inflammatory response (GO:0002676)3.18525063
75negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.17512568
76positive regulation of mast cell degranulation (GO:0043306)3.16705489
77positive regulation of mast cell activation involved in immune response (GO:0033008)3.16705489
78negative regulation of myeloid cell apoptotic process (GO:0033033)3.15022276
79regulation of skeletal muscle fiber development (GO:0048742)3.13570197
80regulation of interferon-beta biosynthetic process (GO:0045357)3.12817915
81negative regulation of production of molecular mediator of immune response (GO:0002701)3.12636999
82positive regulation of calcium ion transport into cytosol (GO:0010524)3.12522259
83positive regulation of wound healing (GO:0090303)3.12326143
84regulation of T-helper 1 cell differentiation (GO:0045625)3.12085565
85positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.10284591
86germinal center formation (GO:0002467)3.08252831
87cellular response to calcium ion (GO:0071277)3.06989027
88regulation of heat generation (GO:0031650)3.05905047
89regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.05890821
90positive regulation of leukocyte degranulation (GO:0043302)3.05349737
91positive regulation of lymphocyte apoptotic process (GO:0070230)3.04980852
92T cell migration (GO:0072678)3.02862138
93positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.01962495
94granulocyte activation (GO:0036230)3.01386961
95negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.00665620
96lens fiber cell development (GO:0070307)26.1394345
97lens fiber cell differentiation (GO:0070306)20.9893095
98detection of molecule of bacterial origin (GO:0032490)2.98194514
99regulation of inflammatory response to antigenic stimulus (GO:0002861)2.98175655
100regulation of mast cell activation involved in immune response (GO:0033006)2.97381307
101regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.97316718
102eosinophil migration (GO:0072677)2.96267381
103positive regulation of inflammatory response to antigenic stimulus (GO:0002863)2.95436694
104response to thyroid hormone (GO:0097066)2.95321627
105intermediate filament cytoskeleton organization (GO:0045104)2.94806867
106B cell mediated immunity (GO:0019724)2.93974865
107positive regulation of interleukin-6 production (GO:0032755)2.91824539
108response to muramyl dipeptide (GO:0032495)2.89874956
109dendritic cell differentiation (GO:0097028)2.87147066
110positive regulation by symbiont of host defense response (GO:0052509)2.87075275
111modulation by symbiont of host defense response (GO:0052031)2.87075275
112modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.87075275
113modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.87075275
114positive regulation by organism of defense response of other organism involved in symbiotic interact2.87075275
115modulation by symbiont of host immune response (GO:0052553)2.87075275
116regulation of membrane protein ectodomain proteolysis (GO:0051043)2.86487739
117pinocytosis (GO:0006907)2.83672302
118intermediate filament-based process (GO:0045103)2.83143603
119regulation of leukocyte degranulation (GO:0043300)2.82671007
120positive regulation of antigen processing and presentation (GO:0002579)2.81716981
121regulation of interleukin-12 production (GO:0032655)2.81433081
122histamine secretion (GO:0001821)2.81056168
123activation of MAPKKK activity (GO:0000185)2.80751113
124cellular response to lipopolysaccharide (GO:0071222)2.80410153
125myeloid cell activation involved in immune response (GO:0002275)2.80296929
126regulation of cholesterol storage (GO:0010885)2.79111930
127fluid transport (GO:0042044)2.78480532
128regulation of interleukin-8 biosynthetic process (GO:0045414)2.78097009
129positive regulation of mast cell activation (GO:0033005)2.78005051
130positive regulation of interferon-beta production (GO:0032728)2.76399365
131mannose metabolic process (GO:0006013)2.75122015
132positive regulation of NF-kappaB import into nucleus (GO:0042346)2.72215058
133cellular response to molecule of bacterial origin (GO:0071219)2.71883942
134positive regulation of acute inflammatory response (GO:0002675)2.71133386
135interferon-gamma-mediated signaling pathway (GO:0060333)2.68138624
136apoptotic cell clearance (GO:0043277)2.68028686
137negative regulation of platelet activation (GO:0010544)2.67955785
138histone lysine demethylation (GO:0070076)2.63775873
139response to activity (GO:0014823)2.62164986
140dopaminergic neuron differentiation (GO:0071542)2.55087492
141cerebellar granule cell differentiation (GO:0021707)2.48881656
142L-alpha-amino acid transmembrane transport (GO:1902475)2.47810100
143activation of JUN kinase activity (GO:0007257)2.47103492
144respiratory tube development (GO:0030323)2.45347293
145mating behavior (GO:0007617)2.44783579
146histone demethylation (GO:0016577)2.44698290
147epithelial cell development (GO:0002064)2.41147514
148skeletal muscle organ development (GO:0060538)2.39594436
149actomyosin structure organization (GO:0031032)2.35913560
150regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.33531471
151regulation of myotube differentiation (GO:0010830)2.32255303
152negative regulation of cell size (GO:0045792)2.30583923
153lung-associated mesenchyme development (GO:0060484)2.27047983
154response to osmotic stress (GO:0006970)2.27010983
155basement membrane organization (GO:0071711)2.23838571
156regulation of homotypic cell-cell adhesion (GO:0034110)2.18241352
157protein demethylation (GO:0006482)2.14840062
158protein dealkylation (GO:0008214)2.14840062
159cell-cell junction assembly (GO:0007043)2.11731053
160positive regulation of dendritic spine development (GO:0060999)2.11231591
161regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.10710030
162diaphragm development (GO:0060539)2.09932438
163positive regulation of dendrite morphogenesis (GO:0050775)2.02029529
164lens morphogenesis in camera-type eye (GO:0002089)10.6672466
165response to muscle activity (GO:0014850)10.0807198
166metanephric tubule development (GO:0072170)1.99359521
167metanephric nephron tubule development (GO:0072234)1.99359521
168protein localization to cell surface (GO:0034394)1.97999660
169prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.94971997
170negative regulation of hormone biosynthetic process (GO:0032353)1.94238833
171negative regulation of hormone metabolic process (GO:0032351)1.94238833
172dorsal/ventral axis specification (GO:0009950)1.93514586
173metanephric nephron epithelium development (GO:0072243)1.93018596
174collecting duct development (GO:0072044)1.92775381
175neuronal stem cell maintenance (GO:0097150)1.91276928
176protein trimerization (GO:0070206)1.91097806
177positive regulation of developmental growth (GO:0048639)1.91036884
178apoptotic process involved in morphogenesis (GO:0060561)1.90555541
179cytoskeletal anchoring at plasma membrane (GO:0007016)1.89475497
180apoptotic process involved in development (GO:1902742)1.86414591
181negative regulation of potassium ion transmembrane transport (GO:1901380)1.77947147
182anatomical structure regression (GO:0060033)1.77292289
183regulation of dendritic spine morphogenesis (GO:0061001)1.77074812
184carnitine shuttle (GO:0006853)1.77029454
185cell maturation (GO:0048469)1.76547903
186regulation of skeletal muscle tissue development (GO:0048641)1.75843528
187cartilage morphogenesis (GO:0060536)1.74773735
188cellular response to vitamin D (GO:0071305)1.71111191
189regulation of platelet activation (GO:0010543)1.70299816
190cellular response to prostaglandin stimulus (GO:0071379)1.69854196
191regulation of striated muscle cell differentiation (GO:0051153)1.68117826
192regulation of calcium ion transport into cytosol (GO:0010522)1.68098218
193negative regulation of JUN kinase activity (GO:0043508)1.67926069
194regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.67307285
195negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.66719952
196metanephric epithelium development (GO:0072207)1.66543728
197positive regulation of synaptic transmission, dopaminergic (GO:0032226)1.65300418
198cortical actin cytoskeleton organization (GO:0030866)1.64831684
199negative regulation of norepinephrine secretion (GO:0010700)1.64457494
200regulation of wound healing (GO:0061041)1.62587041

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse9.65978029
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.10273879
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.07035676
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.89483018
5ZNF652_21678463_ChIP-ChIP_ZR75-1_Human4.85194240
6IRF8_22096565_ChIP-ChIP_GC-B_Human4.43763797
7NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human4.30219259
8CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.85224271
9* IRF8_27001747_Chip-Seq_BMDM_Mouse3.61582189
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.47881671
11IKZF1_21737484_ChIP-ChIP_HCT116_Human3.37877394
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.14431794
13PCGF2_27294783_Chip-Seq_NPCs_Mouse3.05832501
14EGR1_19032775_ChIP-ChIP_M12_Human2.96747554
15IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.82516720
16MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.74555959
17RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.66409049
18Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.60697686
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.56755899
20SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.45729354
21BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.45615993
22* STAT4_19710469_ChIP-ChIP_TH1__Mouse2.43892523
23VDR_21846776_ChIP-Seq_THP-1_Human2.38457650
24MYB_21317192_ChIP-Seq_ERMYB_Mouse2.37731738
25VDR_24763502_ChIP-Seq_THP-1_Human2.33004027
26SPI1_23547873_ChIP-Seq_NB4_Human2.29873664
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.16062622
28BRD4_27068464_Chip-Seq_AML-cells_Mouse2.15932366
29NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.09885630
30TFEB_21752829_ChIP-Seq_HELA_Human2.08394277
31EGR1_19374776_ChIP-ChIP_THP-1_Human2.04453348
32SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.99467145
33EZH2_18974828_ChIP-Seq_MESCs_Mouse1.97720282
34RNF2_18974828_ChIP-Seq_MESCs_Mouse1.97720282
35SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.95608987
36SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.91853284
37SPI1_23127762_ChIP-Seq_K562_Human1.91762072
38EZH2_22144423_ChIP-Seq_EOC_Human1.91623315
39CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.87972134
40JARID2_20064375_ChIP-Seq_MESCs_Mouse1.84521573
41FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.79273107
42NFE2_27457419_Chip-Seq_LIVER_Mouse1.79133923
43STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.78214572
44* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.78136234
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.78024182
46VDR_24787735_ChIP-Seq_THP-1_Human1.71793141
47IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.71453819
48SCL_19346495_ChIP-Seq_HPC-7_Human1.71358280
49SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.69390447
50NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.69354245
51TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.68127128
52CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.67601002
53EED_16625203_ChIP-ChIP_MESCs_Mouse1.64524780
54SUZ12_27294783_Chip-Seq_NPCs_Mouse1.62309161
55MYC_22102868_ChIP-Seq_BL_Human1.59019833
56STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.58785673
57SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.58288297
58PU_27001747_Chip-Seq_BMDM_Mouse1.58110764
59ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.57166850
60CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.56630961
61WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.56425487
62EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.56065646
63RNF2_27304074_Chip-Seq_ESCs_Mouse1.54660755
64GATA3_24758297_ChIP-Seq_MCF-7_Human1.53297905
65GATA1_22025678_ChIP-Seq_K562_Human1.49903880
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.48387221
67RUNX1_22412390_ChIP-Seq_EML_Mouse1.47328853
68SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.47031027
69* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.46827927
70MTF2_20144788_ChIP-Seq_MESCs_Mouse1.42878081
71CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.42596298
72EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.41561445
73MAF_26560356_Chip-Seq_TH1_Human1.39532348
74EZH2_27294783_Chip-Seq_NPCs_Mouse1.37027889
75PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36337226
76* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.33533846
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.32990308
78ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.32627570
79JARID2_20075857_ChIP-Seq_MESCs_Mouse1.32331060
80SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.32256953
81LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.30168492
82CTCF_27219007_Chip-Seq_Bcells_Human1.29691066
83EZH2_27294783_Chip-Seq_ESCs_Mouse1.29548298
84CTCF_18555785_Chip-Seq_ESCs_Mouse1.29216249
85* NANOG_16153702_ChIP-ChIP_HESCs_Human1.27196317
86LXR_22292898_ChIP-Seq_THP-1_Human1.26239332
87EP300_21415370_ChIP-Seq_HL-1_Mouse1.25576815
88CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25162634
89PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24749943
90TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24417805
91SMAD1_18555785_Chip-Seq_ESCs_Mouse1.24191743
92EZH2_27304074_Chip-Seq_ESCs_Mouse1.24035817
93RUNX1_27457419_Chip-Seq_LIVER_Mouse1.23911031
94TBX3_20139965_ChIP-Seq_MESCs_Mouse1.23752484
95CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.23340091
96TBX3_20139965_ChIP-Seq_ESCs_Mouse1.23208667
97ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23044974
98MYB_26560356_Chip-Seq_TH2_Human1.22517730
99GATA1_22383799_ChIP-Seq_G1ME_Mouse1.22309797
100ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21637368
101UTX_26944678_Chip-Seq_JUKART_Human1.21502382
102* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21028841
103ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.19513326
104TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.17801247
105GATA1_19941827_ChIP-Seq_MEL86_Mouse1.17147233
106SRY_22984422_ChIP-ChIP_TESTIS_Rat1.16677103
107VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.15760529
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.14607326
109GATA2_22383799_ChIP-Seq_G1ME_Mouse1.13400240
110PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12815369
111PU.1_20513432_ChIP-Seq_Bcells_Mouse1.11152670
112HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.10989558
113FOXA2_19822575_ChIP-Seq_HepG2_Human1.09642136
114RING1B_27294783_Chip-Seq_NPCs_Mouse1.09226764
115TP53_20018659_ChIP-ChIP_R1E_Mouse1.09071255
116PU1_27457419_Chip-Seq_LIVER_Mouse1.08918989
117FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08912376
118GATA2_21666600_ChIP-Seq_HMVEC_Human1.07878823
119GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06929391
120SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06520002
121ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05649610
122MAF_26560356_Chip-Seq_TH2_Human1.05174079
123STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04817221
124PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.04582535
125HOXB4_20404135_ChIP-ChIP_EML_Mouse1.04125980
126STAT1_20625510_ChIP-Seq_HELA_Human1.03622715
127SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.03412136
128VDR_22108803_ChIP-Seq_LS180_Human1.03346670
129SMC3_22415368_ChIP-Seq_MEFs_Mouse1.03217839
130STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.02921973
131ELK3_25401928_ChIP-Seq_HUVEC_Human1.02781304
132CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02684278
133SALL4_22934838_ChIP-ChIP_CD34+_Human1.02201776
134* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.02003124
135GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.01870536
136KDM2B_26808549_Chip-Seq_SUP-B15_Human1.01681415
137KDM2B_26808549_Chip-Seq_K562_Human1.01251244
138MYB_26560356_Chip-Seq_TH1_Human1.01035084
139ELF1_20517297_ChIP-Seq_JURKAT_Human1.00794743
140ERG_20887958_ChIP-Seq_HPC-7_Mouse0.99628610
141PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.99587639
142GATA1_19941826_ChIP-Seq_K562_Human0.99181514
143TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.99022515
144NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98927297
145* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98570771
146KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.98567449
147SMAD3_21741376_ChIP-Seq_ESCs_Human0.98546314
148* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98373835
149EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.98298377
150KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.97244893
151KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.97244893
152KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.97244893
153EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.97207575
154RING1B_27294783_Chip-Seq_ESCs_Mouse0.97102794
155FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.96940207
156TCF7_22412390_ChIP-Seq_EML_Mouse0.96029311
157THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95795751
158SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95461026
159ZNF263_19887448_ChIP-Seq_K562_Human0.93062502
160CLOCK_20551151_ChIP-Seq_293T_Human0.92458867
161NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.91389156
162SUZ12_27294783_Chip-Seq_ESCs_Mouse0.91002830
163ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.90947668
164ZNF274_21170338_ChIP-Seq_K562_Hela0.90393051
165* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89737676
166GATA1_19941827_ChIP-Seq_MEL_Mouse0.88818343
167PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.88794556
168SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.88614815
169NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.88076118
170BCOR_27268052_Chip-Seq_Bcells_Human0.87859216
171TCF3_18692474_ChIP-Seq_MEFs_Mouse0.86624934
172STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85574357
173ESR2_21235772_ChIP-Seq_MCF-7_Human0.84068967
174KDM2B_26808549_Chip-Seq_DND41_Human0.84015921
175ELF1_17652178_ChIP-ChIP_JURKAT_Human0.83964294
176JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.83740742
177TP63_17297297_ChIP-ChIP_HaCaT_Human0.83188181
178SMC1_22415368_ChIP-Seq_MEFs_Mouse0.82560042
179RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.81891214
180NCOR1_26117541_ChIP-Seq_K562_Human0.81814551
181KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.81713024
182CRX_20693478_ChIP-Seq_RETINA_Mouse0.81009676
183CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.80347665
184OCT4_21477851_ChIP-Seq_ESCs_Mouse0.80263624
185CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.79971476
186KDM2B_26808549_Chip-Seq_JURKAT_Human0.79784206
187PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.79479286
188GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79421531
189KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.79224342

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005193_abnormal_anterior_eye9.13481772
2MP0005058_abnormal_lysosome_morphology4.92713403
3MP0005253_abnormal_eye_physiology4.85249990
4MP0001286_abnormal_eye_development3.76256806
5MP0005197_abnormal_uvea_morphology3.74336025
6MP0002092_abnormal_eye_morphology3.72752063
7MP0000749_muscle_degeneration3.71696777
8MP0006082_CNS_inflammation3.49180086
9MP0002148_abnormal_hypersensitivity_rea3.43624719
10MP0009840_abnormal_foam_cell3.19880743
11MP0003941_abnormal_skin_development3.19054942
12MP0005391_vision/eye_phenotype3.13007614
13MP0003436_decreased_susceptibility_to2.90485539
14MP0006054_spinal_hemorrhage2.82182481
15MP0009785_altered_susceptibility_to2.76997815
16MP0001835_abnormal_antigen_presentation2.74293937
17MP0000343_altered_response_to2.68659545
18MP0003724_increased_susceptibility_to2.64680024
19MP0004510_myositis2.58229578
20MP0005671_abnormal_response_to2.58123454
21MP0002090_abnormal_vision2.55870044
22MP0002419_abnormal_innate_immunity2.50424698
23MP0005000_abnormal_immune_tolerance2.42276606
24MP0001790_abnormal_immune_system2.27275755
25MP0005387_immune_system_phenotype2.27275755
26MP0005025_abnormal_response_to2.26917602
27MP0002254_reproductive_system_inflammat2.22175816
28MP0003300_gastrointestinal_ulcer2.20243083
29MP0009764_decreased_sensitivity_to2.11897347
30MP0001346_abnormal_lacrimal_gland2.08052093
31MP0002452_abnormal_antigen_presenting2.04174730
32MP0000685_abnormal_immune_system2.03477184
33MP0001853_heart_inflammation2.01488040
34MP0008004_abnormal_stomach_pH2.01150966
35MP0002697_abnormal_eye_size14.1535973
36MP0002723_abnormal_immune_serum1.98006607
37MP0001533_abnormal_skeleton_physiology1.93878996
38MP0003806_abnormal_nucleotide_metabolis1.91292186
39MP0005167_abnormal_blood-brain_barrier1.85934546
40MP0001800_abnormal_humoral_immune1.75894158
41MP0003195_calcinosis1.74931304
42MP0009278_abnormal_bone_marrow1.74089968
43MP0001845_abnormal_inflammatory_respons1.71096432
44MP0001819_abnormal_immune_cell1.66304807
45MP0005310_abnormal_salivary_gland1.66098078
46MP0002420_abnormal_adaptive_immunity1.65867068
47MP0002998_abnormal_bone_remodeling1.65236054
48MP0003448_altered_tumor_morphology1.61756293
49MP0002108_abnormal_muscle_morphology1.61625426
50MP0005464_abnormal_platelet_physiology1.60590206
51MP0005451_abnormal_body_composition1.60120805
52MP0009333_abnormal_splenocyte_physiolog1.59100530
53MP0008260_abnormal_autophagy1.55933186
54MP0004272_abnormal_basement_membrane1.52203076
55MP0002269_muscular_atrophy1.50950423
56MP0002405_respiratory_system_inflammati1.50625966
57MP0008469_abnormal_protein_level1.49121620
58MP0003453_abnormal_keratinocyte_physiol1.48342750
59MP0005330_cardiomyopathy1.44527353
60MP0010155_abnormal_intestine_physiology1.42479976
61MP0002638_abnormal_pupillary_reflex1.42408148
62MP0004947_skin_inflammation1.42137702
63MP0010368_abnormal_lymphatic_system1.31169240
64MP0005397_hematopoietic_system_phenotyp1.29162648
65MP0001545_abnormal_hematopoietic_system1.29162648
66MP0000858_altered_metastatic_potential1.28447507
67MP0010307_abnormal_tumor_latency1.26210945
68MP0000716_abnormal_immune_system1.25428560
69MP0005195_abnormal_posterior_eye1.16782810
70MP0003186_abnormal_redox_activity1.16255138
71MP0003191_abnormal_cellular_cholesterol1.12859775
72MP0005165_increased_susceptibility_to1.12507823
73MP0002332_abnormal_exercise_endurance1.11589584
74MP0001299_abnormal_eye_distance/1.09060817
75MP0000689_abnormal_spleen_morphology1.05954340
76MP0003828_pulmonary_edema1.03353949
77MP0002398_abnormal_bone_marrow1.03075353
78MP0002429_abnormal_blood_cell1.01764690
79MP0005166_decreased_susceptibility_to1.00962998
80MP0002735_abnormal_chemical_nociception0.99673509
81MP0002139_abnormal_hepatobiliary_system0.93785627
82MP0009763_increased_sensitivity_to0.93624479
83MP0002722_abnormal_immune_system0.89549445
84MP0003705_abnormal_hypodermis_morpholog0.89448423
85MP0001663_abnormal_digestive_system0.87649245
86MP0005551_abnormal_eye_electrophysiolog0.87301965
87MP0001542_abnormal_bone_strength0.86647868
88MP0001340_abnormal_eyelid_morphology0.84943955
89MP0002933_joint_inflammation0.84835356
90MP0009765_abnormal_xenobiotic_induced0.81075099
91MP0003252_abnormal_bile_duct0.79906905
92MP0003221_abnormal_cardiomyocyte_apopto0.76450834
93MP0005390_skeleton_phenotype0.75886638
94MP0002837_dystrophic_cardiac_calcinosis0.74489290
95MP0004859_abnormal_synaptic_plasticity0.74083939
96MP0008007_abnormal_cellular_replicative0.73959685
97MP0002138_abnormal_hepatobiliary_system0.73770266
98MP0004087_abnormal_muscle_fiber0.72973497
99MP0003634_abnormal_glial_cell0.72714415
100MP0005319_abnormal_enzyme/_coenzyme0.72328989
101MP0000490_abnormal_crypts_of0.71267047
102MP0003795_abnormal_bone_structure0.67146986
103MP0002277_abnormal_respiratory_mucosa0.63050901
104MP0005369_muscle_phenotype0.62725897
105MP0003183_abnormal_peptide_metabolism0.62504454
106MP0008874_decreased_physiological_sensi0.60053729
107MP0009053_abnormal_anal_canal0.58360625
108MP0002736_abnormal_nociception_after0.57101238
109MP0001849_ear_inflammation0.56627439
110MP0000759_abnormal_skeletal_muscle0.56501916
111MP0005164_abnormal_response_to0.56210346
112MP0000049_abnormal_middle_ear0.55978514
113MP0005595_abnormal_vascular_smooth0.55297192
114MP0004043_abnormal_pH_regulation0.53595810
115MP0005584_abnormal_enzyme/coenzyme_acti0.53439893
116MP0001915_intracranial_hemorrhage0.52930392
117MP0005085_abnormal_gallbladder_physiolo0.52503815
118MP0003633_abnormal_nervous_system0.52473048
119MP0003123_paternal_imprinting0.52142425
120MP0004883_abnormal_blood_vessel0.51324171
121MP0005381_digestive/alimentary_phenotyp0.51128546
122MP0001905_abnormal_dopamine_level0.50617046
123MP0000747_muscle_weakness0.46973112
124MP0002734_abnormal_mechanical_nocicepti0.46930546
125MP0001968_abnormal_touch/_nociception0.46098122
126MP0005187_abnormal_penis_morphology0.45820052
127MP0003566_abnormal_cell_adhesion0.45662789
128MP0009780_abnormal_chondrocyte_physiolo0.45581334
129MP0002653_abnormal_ependyma_morphology0.44648609
130MP0003787_abnormal_imprinting0.43818416
131MP0003635_abnormal_synaptic_transmissio0.42294101
132MP0004885_abnormal_endolymph0.41706757
133MP0006292_abnormal_olfactory_placode0.41229835
134MP0003656_abnormal_erythrocyte_physiolo0.40465219
135MP0000537_abnormal_urethra_morphology0.39029347
136MP0002089_abnormal_postnatal_growth/wei0.38123204
137MP0003303_peritoneal_inflammation0.36269812
138MP0004270_analgesia0.36127021
139MP0001324_abnormal_eye_pigmentation0.35695107
140MP0001879_abnormal_lymphatic_vessel0.33853593
141MP0003075_altered_response_to0.33801956
142MP0003690_abnormal_glial_cell0.33602879
143MP0002249_abnormal_larynx_morphology0.33003134
144MP0004134_abnormal_chest_morphology0.31512959
145MP0003115_abnormal_respiratory_system0.30588375
146MP0003329_amyloid_beta_deposits0.30051039
147MP0004145_abnormal_muscle_electrophysio0.29907143
148MP0000751_myopathy0.29875450
149MP0005647_abnormal_sex_gland0.29102293
150MP0002063_abnormal_learning/memory/cond0.29050526
151MP0001943_abnormal_respiration0.28657013
152MP0003942_abnormal_urinary_system0.28499933
153MP0004811_abnormal_neuron_physiology0.28466541
154MP0002925_abnormal_cardiovascular_devel0.28323699
155MP0004858_abnormal_nervous_system0.28250911
156MP0000428_abnormal_craniofacial_morphol0.28226645
157MP0002177_abnormal_outer_ear0.27146452
158MP0005257_abnormal_intraocular_pressure0.26870957
159MP0005360_urolithiasis0.26849269
160MP0001958_emphysema0.26643892
161MP0000465_gastrointestinal_hemorrhage0.26605967
162MP0002733_abnormal_thermal_nociception0.26513280
163MP0002064_seizures0.26024974
164MP0005248_abnormal_Harderian_gland0.24841825
165MP0004185_abnormal_adipocyte_glucose0.24597139
166MP0000955_abnormal_spinal_cord0.24156609
167MP0004084_abnormal_cardiac_muscle0.24017095
168MP0001614_abnormal_blood_vessel0.23878067
169MP0010234_abnormal_vibrissa_follicle0.22066050
170MP0002152_abnormal_brain_morphology0.21570100
171MP0003172_abnormal_lysosome_physiology0.21477377
172MP0009250_abnormal_appendicular_skeleto0.21437691
173MP0003959_abnormal_lean_body0.20673118
174MP0000920_abnormal_myelination0.20470173
175MP0004197_abnormal_fetal_growth/weight/0.20388053
176MP0001784_abnormal_fluid_regulation0.20245172
177MP0008438_abnormal_cutaneous_collagen0.20226900
178MP0001502_abnormal_circadian_rhythm0.19941213
179MP0005623_abnormal_meninges_morphology0.19215737
180MP0002128_abnormal_blood_circulation0.18815860
181MP0002295_abnormal_pulmonary_circulatio0.18605640
182MP0002106_abnormal_muscle_physiology0.17874602
183MP0000266_abnormal_heart_morphology0.17341773
184MP0004130_abnormal_muscle_cell0.16095958
185MP0000604_amyloidosis0.15989715

Predicted human phenotypes

RankGene SetZ-score
1Congenital cataract (HP:0000519)8.48731768
2Abnormality of glycolipid metabolism (HP:0010969)8.44788926
3Abnormality of liposaccharide metabolism (HP:0010968)8.44788926
4Abnormality of glycosphingolipid metabolism (HP:0004343)8.44788926
5Amblyopia (HP:0000646)7.49145958
6* Corneal dystrophy (HP:0001131)6.61249774
7Anterior segment dysgenesis (HP:0007700)6.37098224
8Vacuolated lymphocytes (HP:0001922)6.03662009
9Increased cerebral lipofuscin (HP:0011813)5.79606362
10Disinhibition (HP:0000734)5.63802151
11Dysostosis multiplex (HP:0000943)5.09372661
12Mutism (HP:0002300)4.91415260
13Increased neuronal autofluorescent lipopigment (HP:0002074)4.87725216
14Loss of speech (HP:0002371)4.82652873
15Polar cataract (HP:0010696)4.75720445
16Clumsiness (HP:0002312)4.30386344
17Abnormality of macrophages (HP:0004311)4.27014080
18Recurrent abscess formation (HP:0002722)4.13407188
19Agnosia (HP:0010524)4.11993145
20Recurrent bacterial skin infections (HP:0005406)3.93810971
21Glomerulonephritis (HP:0000099)3.79895156
22Autoimmune thrombocytopenia (HP:0001973)3.74161565
23Abnormality of polysaccharide metabolism (HP:0011012)3.66028566
24Abnormality of glycosaminoglycan metabolism (HP:0004371)3.66028566
25Abnormality of mucopolysaccharide metabolism (HP:0011020)3.66028566
26Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.62822180
27Abnormality of the vasculature of the conjunctiva (HP:0008054)3.55376584
28Urinary glycosaminoglycan excretion (HP:0003541)3.37601159
29Mucopolysacchariduria (HP:0008155)3.37601159
30* Microcornea (HP:0000482)3.33341538
31Inappropriate behavior (HP:0000719)3.32098882
32Apathy (HP:0000741)3.23937663
33Eosinophilia (HP:0001880)3.09783648
34Neurofibrillary tangles (HP:0002185)3.06475015
35Diminished motivation (HP:0000745)3.04266739
36Upper motor neuron abnormality (HP:0002127)3.01752038
37* Nuclear cataract (HP:0100018)26.3721956
38* Zonular cataract (HP:0010920)24.6260295
39Stomatitis (HP:0010280)2.96293789
40Spontaneous hematomas (HP:0007420)2.88852814
41Myocardial infarction (HP:0001658)2.85486877
42Orchitis (HP:0100796)2.84875411
43Mediastinal lymphadenopathy (HP:0100721)2.83833794
44Eczematoid dermatitis (HP:0000976)2.82626731
45Optic neuritis (HP:0100653)2.79714302
46Retrobulbar optic neuritis (HP:0100654)2.79714302
47Purpura (HP:0000979)2.76533838
48Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.73435532
49Abnormality of the anterior chamber (HP:0000593)2.72407246
50Hematochezia (HP:0002573)2.71292395
51Petechiae (HP:0000967)2.68369582
52Recurrent gram-negative bacterial infections (HP:0005420)2.67754540
53* Iris coloboma (HP:0000612)2.61922308
54Neuronal loss in central nervous system (HP:0002529)2.56474172
55Progressive neurologic deterioration (HP:0002344)2.56121485
56Personality changes (HP:0000751)2.55687626
57Myositis (HP:0100614)2.55059739
58Increased serum ferritin (HP:0003281)2.54456112
59Multiple enchondromatosis (HP:0005701)2.54388570
60Hepatosplenomegaly (HP:0001433)2.53898759
61Granulocytopenia (HP:0001913)2.46234303
62* Opacification of the corneal stroma (HP:0007759)2.43077562
63Pathologic fracture (HP:0002756)2.42060836
64Basal ganglia calcification (HP:0002135)2.40974749
65Sclerocornea (HP:0000647)2.40870297
66Progressive visual loss (HP:0000529)2.36354571
67Scapular winging (HP:0003691)2.31712295
68Nausea (HP:0002018)2.29862096
69Obstructive lung disease (HP:0006536)2.29139405
70Chronic obstructive pulmonary disease (HP:0006510)2.29139405
71Dementia (HP:0000726)2.25602347
72Proximal amyotrophy (HP:0007126)2.25178322
73Congenital primary aphakia (HP:0007707)2.18911586
74Conjunctival telangiectasia (HP:0000524)2.16778389
75Metaphyseal irregularity (HP:0003025)2.16080835
76Tetraparesis (HP:0002273)2.15088887
77Cerebral inclusion bodies (HP:0100314)2.14892015
78Prolonged neonatal jaundice (HP:0006579)2.13126631
79Abnormality of eosinophils (HP:0001879)2.10491150
80Increased IgM level (HP:0003496)2.07283374
81Peripheral demyelination (HP:0011096)2.06643567
82Retinal atrophy (HP:0001105)2.06219349
83Posterior subcapsular cataract (HP:0007787)2.00414950
84Polyneuropathy (HP:0001271)1.98972960
85Parakeratosis (HP:0001036)1.96486990
86Decreased circulating renin level (HP:0003351)1.94170518
87Keratoconjunctivitis sicca (HP:0001097)1.93649668
88Abnormality of iron homeostasis (HP:0011031)1.92890232
89Bone pain (HP:0002653)1.92577572
90Abnormality of complement system (HP:0005339)1.91105494
91Abnormality of the basal ganglia (HP:0002134)1.89867669
92Abnormality of lateral ventricle (HP:0030047)1.88183537
93Aplasia/Hypoplasia of the lens (HP:0008063)1.87956321
94Recurrent skin infections (HP:0001581)1.87442081
95Premature loss of primary teeth (HP:0006323)1.86884367
96Amyloidosis (HP:0011034)1.84992601
97Memory impairment (HP:0002354)1.84625165
98Nephritis (HP:0000123)1.84144114
99IgM deficiency (HP:0002850)1.81421425
100Abnormality of chloride homeostasis (HP:0011422)1.80800895
101Pulmonary infiltrates (HP:0002113)1.79401309
102Cardiomegaly (HP:0001640)1.79385698
103Recurrent viral infections (HP:0004429)1.79269165
104Hyperactive renin-angiotensin system (HP:0000841)1.77385873
105Aplasia/Hypoplasia of the sacrum (HP:0008517)1.76123270
106J-shaped sella turcica (HP:0002680)1.75538693
107Vasculitis (HP:0002633)1.74680465
108Keratoconjunctivitis (HP:0001096)1.74150411
109Thoracic kyphosis (HP:0002942)1.73654712
110Vertebral compression fractures (HP:0002953)1.73215547
111Cone-rod dystrophy (HP:0000548)1.72870980
112Supranuclear gaze palsy (HP:0000605)1.72644266
113Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.72170262
114Neonatal respiratory distress (HP:0002643)1.71334115
115Gingivitis (HP:0000230)1.70864414
116IgA deficiency (HP:0002720)1.70544465
117Poor head control (HP:0002421)1.70047356
118Urticaria (HP:0001025)1.69045103
119Aplasia/Hypoplasia of the macula (HP:0008059)1.68614354
120Fetal akinesia sequence (HP:0001989)1.66630668
121Long clavicles (HP:0000890)1.61915701
122Aplasia/Hypoplasia affecting the retina (HP:0008061)1.60206800
123Popliteal pterygium (HP:0009756)1.58274872
124Aplasia of the musculature (HP:0100854)1.52660974
125Akinesia (HP:0002304)1.41544604
126Leukocytosis (HP:0001974)1.39984069
127Difficulty walking (HP:0002355)1.39782547
128Amniotic constriction ring (HP:0009775)1.39058613
129Abnormality of placental membranes (HP:0011409)1.39058613
130Abnormality of the shoulder girdle musculature (HP:0001435)1.38016919
131Hypoplastic nipples (HP:0002557)1.34799889
132Rib fusion (HP:0000902)1.16621241
133Subcapsular cataract (HP:0000523)1.14764676
134Fused cervical vertebrae (HP:0002949)1.11564704
135Symphalangism affecting the phalanges of the hand (HP:0009773)1.08597342
136Vertebral clefting (HP:0008428)1.03542431
137Abnormality of the labia majora (HP:0012881)0.96012369
138Aplasia/Hypoplasia involving the musculature (HP:0001460)0.87359518
139Camptodactyly of toe (HP:0001836)0.86767905
140Chorioretinal coloboma (HP:0000567)0.86362041
141Exostoses (HP:0100777)0.85904695
142Pterygium (HP:0001059)0.81282894
143Thin ribs (HP:0000883)0.80040255
144Malignant hyperthermia (HP:0002047)0.78766170
145Severe visual impairment (HP:0001141)0.77696181
146Lymphangioma (HP:0100764)0.75019672
147Neoplasm of the heart (HP:0100544)0.74179560
148Ependymoma (HP:0002888)0.71232042
149Hypoplastic heart (HP:0001961)0.68488851
150Split foot (HP:0001839)0.68269657
151Dislocated radial head (HP:0003083)0.66017593
152Abnormal number of incisors (HP:0011064)0.65586828
153Abnormality of the radial head (HP:0003995)0.60934668
154Abnormality of the humeroradial joint (HP:0100744)0.60757777
155Diminished movement (HP:0002374)0.60164819
156Cystic hygroma (HP:0000476)0.59966859
157Flexion contracture of toe (HP:0005830)0.58993487
158Joint contractures involving the joints of the feet (HP:0100492)0.58993487
159Pointed chin (HP:0000307)0.58238292
160Aplasia/Hypoplasia of the nipples (HP:0006709)0.58083019
161Annular pancreas (HP:0001734)0.56240415
162Muscle fiber splitting (HP:0003555)0.56064603
163Hypoplastic pelvis (HP:0008839)0.55371054
164Autosomal dominant inheritance (HP:0000006)0.54472469
165Astrocytoma (HP:0009592)0.53982056
166Abnormality of the astrocytes (HP:0100707)0.53982056
167Hemiplegia (HP:0002301)0.53592730
168Enlarged kidneys (HP:0000105)0.53539624
169Hyporeflexia of lower limbs (HP:0002600)0.53111881
170Visceral angiomatosis (HP:0100761)0.51445832
171Hamartoma of the eye (HP:0010568)0.50077105
172Hepatoblastoma (HP:0002884)0.49920469
173Systemic lupus erythematosus (HP:0002725)0.49338640
174Broad nasal tip (HP:0000455)0.48502244
175Cerebral aneurysm (HP:0004944)0.47894605
176Skin nodule (HP:0200036)0.47585890
177Buphthalmos (HP:0000557)0.46775541
178Hemangiomatosis (HP:0007461)0.46451884
179Abnormality of cochlea (HP:0000375)0.44025619
180Neonatal hypoglycemia (HP:0001998)0.43139120
181Abnormality of the lumbar spine (HP:0100712)0.42968675
182Exercise-induced muscle cramps (HP:0003710)0.42025434
183Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.41565458
184Complement deficiency (HP:0004431)0.41453558
185Axonal loss (HP:0003447)0.41409251
186Intention tremor (HP:0002080)0.41025012
187Exercise-induced myalgia (HP:0003738)0.40930783
188Patellar aplasia (HP:0006443)0.40759541
189Abnormality of the labia (HP:0000058)0.40377120
190Deep venous thrombosis (HP:0002625)0.39492808
191Synostosis involving the elbow (HP:0003938)0.39181223
192Humeroradial synostosis (HP:0003041)0.39181223
193Abnormal pancreas size (HP:0012094)0.39135033
194Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.39096445
195Overgrowth (HP:0001548)0.38961109
196Arterial tortuosity (HP:0005116)0.38639073

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.24070240
2BLK4.88474905
3NME24.46781048
4IRAK34.41754919
5SGK14.06783504
6GRK73.52976353
7STK392.98156350
8WNK42.82709542
9TAOK22.66802705
10MAP3K142.63583978
11NTRK12.61408364
12FLT32.60358670
13PRKG12.60017370
14MST42.37322393
15PKN22.35959092
16IKBKB2.25074009
17PIM22.22438031
18SIK12.15171435
19MAP3K112.12013337
20ERN12.07886889
21TRIB32.05518736
22DDR22.01516967
23MATK2.00569490
24ACVR1B2.00417320
25PRPF4B1.92494046
26TESK21.85492517
27TAOK11.83170026
28IGF1R1.80240561
29ABL21.72015755
30TYK21.71323351
31MAP4K11.66368813
32IRAK41.60914901
33PDGFRA1.60515869
34TAOK31.57884641
35PRKCB1.56531282
36MET1.55472324
37IKBKE1.54563526
38INSR1.51260731
39CSK1.47123349
40MAP3K31.46540623
41LRRK21.45771490
42SIK31.45608259
43MAPK101.44134859
44RIPK11.42402122
45ZAP701.41941640
46CAMK1D1.40170361
47PAK41.39242276
48STK101.38778584
49TGFBR21.35958163
50MAP2K31.35087416
51CSF1R1.34883614
52PBK1.32663614
53ADRBK21.30519171
54ICK1.26069693
55MAP3K101.25202239
56PNCK1.22540561
57EPHB21.19924969
58ERBB21.18262469
59PRKACB1.14576830
60PTK61.13931332
61TIE11.13325236
62WNK11.13243593
63CDK61.12222358
64ARAF1.05531455
65LYN1.04120815
66CAMKK21.02821644
67RPS6KA31.02280521
68SCYL21.01161006
69CHUK0.99777132
70EPHA40.97634364
71CAMK1G0.95445451
72CAMKK10.90822101
73MAP3K130.90292739
74PAK60.87598853
75STK160.87531218
76TXK0.85735232
77PIM10.85445816
78PKN10.84782578
79MARK30.84614613
80SYK0.83760323
81MAP3K50.81033556
82PRKCQ0.79679387
83MAPKAPK50.77668025
84DYRK30.76504381
85PTK20.76397457
86TGFBR10.75069693
87MAP3K10.74780531
88STK40.74237974
89PRKACG0.74180559
90CDC42BPA0.72874036
91ROCK20.72348168
92PHKG10.71082022
93PHKG20.71082022
94TESK10.65885574
95TEC0.64837761
96BRAF0.64303273
97HCK0.63007496
98TSSK60.62222582
99MINK10.61502158
100LCK0.60076522
101LATS10.59058805
102RPS6KA20.58718492
103BTK0.58256290
104ILK0.55668969
105TNK20.55612463
106CCNB10.54517716
107PAK30.54394241
108SGK4940.54355337
109SGK2230.54355337
110IRAK10.53967535
111EPHA20.53937824
112PAK20.51716172
113TLK10.50711513
114MAPKAPK30.50158043
115MKNK10.49515296
116PDK20.48792219
117JAK20.48340914
118ROCK10.46091113
119TBK10.45396243
120MAP3K80.43973209
121NEK90.43547067
122BMX0.42840028
123BMPR20.42456011
124MAPK40.42156448
125MAP3K90.42102186
126EGFR0.41577917
127CDK50.40157636
128MAPK150.40021507
129LATS20.38145797
130PAK10.37784904
131CSNK2A20.37107256
132FES0.36985676
133ADRBK10.36784592
134PRKCH0.36775398
135EIF2AK30.35354275
136FGFR10.35299165
137MAPK120.34820433
138IRAK20.34505948
139NTRK30.33299446
140UHMK10.33239930
141ALK0.33014348
142TYRO30.32816393
143ABL10.32775516
144PRKCD0.32184625
145MAPKAPK20.32099740
146PTK2B0.32069677
147PDGFRB0.31795986
148CLK10.31755179
149FER0.30637481
150DAPK30.30630288
151JAK10.30443148
152HIPK20.30247154
153BCKDK0.29645888
154PDK10.28978719
155STK240.28643122
156RPS6KA10.28491054
157CDK40.28354124
158TAF10.27365075
159YES10.26809875
160DMPK0.25806789
161RPS6KC10.24762319
162RPS6KL10.24762319
163JAK30.24428356
164RIPK40.24225347
165FYN0.23167862
166KSR20.23058587
167TNIK0.22708824
168ITK0.22210996
169STK110.20806511
170FGR0.20770555
171CDK140.19494128
172CSNK1A1L0.18645659
173KSR10.18345983
174MOS0.18071331
175PRKCA0.17731555
176PDPK10.17459730
177CSNK1E0.17432473
178EEF2K0.17056022
179CDK150.16518588

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005114.65405412
2Lysosome_Homo sapiens_hsa041423.88638358
3Rheumatoid arthritis_Homo sapiens_hsa053233.10093864
4Toll-like receptor signaling pathway_Homo sapiens_hsa046202.69215430
5Osteoclast differentiation_Homo sapiens_hsa043802.68067429
6Intestinal immune network for IgA production_Homo sapiens_hsa046722.47483776
7Legionellosis_Homo sapiens_hsa051342.44001721
8Nitrogen metabolism_Homo sapiens_hsa009102.42874648
9Asthma_Homo sapiens_hsa053102.36547301
10NF-kappa B signaling pathway_Homo sapiens_hsa040642.32744002
11Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.25943521
12Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.22790266
13Allograft rejection_Homo sapiens_hsa053302.20493308
14Pertussis_Homo sapiens_hsa051332.19029247
15Small cell lung cancer_Homo sapiens_hsa052222.16892159
16Leishmaniasis_Homo sapiens_hsa051402.14863624
17Tuberculosis_Homo sapiens_hsa051522.10750446
18Malaria_Homo sapiens_hsa051442.07234807
19Collecting duct acid secretion_Homo sapiens_hsa049661.89684449
20Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.86699194
21NOD-like receptor signaling pathway_Homo sapiens_hsa046211.81715228
22RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.78023886
23Adherens junction_Homo sapiens_hsa045201.76634150
24TNF signaling pathway_Homo sapiens_hsa046681.76035522
25Graft-versus-host disease_Homo sapiens_hsa053321.75731857
26Hedgehog signaling pathway_Homo sapiens_hsa043401.74059025
27Antigen processing and presentation_Homo sapiens_hsa046121.73624215
28Central carbon metabolism in cancer_Homo sapiens_hsa052301.72164430
29Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.70781669
30Salmonella infection_Homo sapiens_hsa051321.67263229
31Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.65064151
32Autoimmune thyroid disease_Homo sapiens_hsa053201.63134995
33Basal cell carcinoma_Homo sapiens_hsa052171.57347431
34Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.56539117
35Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.55041784
36Phagosome_Homo sapiens_hsa041451.54403365
37Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.54344295
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.51267792
39mTOR signaling pathway_Homo sapiens_hsa041501.47255927
40Melanogenesis_Homo sapiens_hsa049161.45003143
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.40959517
42Olfactory transduction_Homo sapiens_hsa047401.40031785
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.37320301
44Prion diseases_Homo sapiens_hsa050201.36899077
45Influenza A_Homo sapiens_hsa051641.35224284
46Synaptic vesicle cycle_Homo sapiens_hsa047211.33397494
47Type I diabetes mellitus_Homo sapiens_hsa049401.32676738
48Primary bile acid biosynthesis_Homo sapiens_hsa001201.31968662
49Circadian entrainment_Homo sapiens_hsa047131.29287112
50Staphylococcus aureus infection_Homo sapiens_hsa051501.27055008
51Arginine biosynthesis_Homo sapiens_hsa002201.25723794
52Glioma_Homo sapiens_hsa052141.25436951
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.23189835
54Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21810728
55Amoebiasis_Homo sapiens_hsa051461.21692573
56African trypanosomiasis_Homo sapiens_hsa051431.19765990
57GABAergic synapse_Homo sapiens_hsa047271.19493970
58ECM-receptor interaction_Homo sapiens_hsa045121.18098946
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17930134
60Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.17770248
61Proteoglycans in cancer_Homo sapiens_hsa052051.16370435
62Insulin signaling pathway_Homo sapiens_hsa049101.15843164
63Dorso-ventral axis formation_Homo sapiens_hsa043201.15649239
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.09932222
65Long-term potentiation_Homo sapiens_hsa047201.07722198
66Renal cell carcinoma_Homo sapiens_hsa052111.06493167
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.06292772
68AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.06143664
69Wnt signaling pathway_Homo sapiens_hsa043101.06117415
70Hematopoietic cell lineage_Homo sapiens_hsa046401.06006273
71Glycosaminoglycan degradation_Homo sapiens_hsa005311.05610758
72Measles_Homo sapiens_hsa051621.03478733
73Viral myocarditis_Homo sapiens_hsa054161.02665450
74Apoptosis_Homo sapiens_hsa042101.02213762
75Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.01818870
76Herpes simplex infection_Homo sapiens_hsa051681.01708558
77Proteasome_Homo sapiens_hsa030501.01035462
78Glucagon signaling pathway_Homo sapiens_hsa049220.99320764
79Epstein-Barr virus infection_Homo sapiens_hsa051690.98860126
80Type II diabetes mellitus_Homo sapiens_hsa049300.98504571
81Bile secretion_Homo sapiens_hsa049760.97919875
82Sphingolipid metabolism_Homo sapiens_hsa006000.97892231
83Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.97274002
84Focal adhesion_Homo sapiens_hsa045100.95384018
85Axon guidance_Homo sapiens_hsa043600.94296951
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.94110221
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.93853259
88Estrogen signaling pathway_Homo sapiens_hsa049150.93497630
89Protein digestion and absorption_Homo sapiens_hsa049740.93046488
90Shigellosis_Homo sapiens_hsa051310.90851634
91Chronic myeloid leukemia_Homo sapiens_hsa052200.90804546
92B cell receptor signaling pathway_Homo sapiens_hsa046620.90017350
93Gap junction_Homo sapiens_hsa045400.88527487
94Toxoplasmosis_Homo sapiens_hsa051450.87164015
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.86826785
96Cholinergic synapse_Homo sapiens_hsa047250.86107884
97Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84639538
98Hippo signaling pathway_Homo sapiens_hsa043900.83112059
99Chemokine signaling pathway_Homo sapiens_hsa040620.83073952
100Insulin secretion_Homo sapiens_hsa049110.81187054
101Neurotrophin signaling pathway_Homo sapiens_hsa047220.81066806
102Bladder cancer_Homo sapiens_hsa052190.80634281
103Glutamatergic synapse_Homo sapiens_hsa047240.80349743
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.79598790
105Hepatitis B_Homo sapiens_hsa051610.79042004
106Fatty acid degradation_Homo sapiens_hsa000710.79021696
107Tight junction_Homo sapiens_hsa045300.78357511
108Pathways in cancer_Homo sapiens_hsa052000.78178584
109Gastric acid secretion_Homo sapiens_hsa049710.77339656
110Ether lipid metabolism_Homo sapiens_hsa005650.77337721
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77335380
112Insulin resistance_Homo sapiens_hsa049310.77240397
113Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.75799770
114Dopaminergic synapse_Homo sapiens_hsa047280.75379234
115Complement and coagulation cascades_Homo sapiens_hsa046100.74954772
116Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74373340
117Oxytocin signaling pathway_Homo sapiens_hsa049210.74310416
118Galactose metabolism_Homo sapiens_hsa000520.73993077
119Primary immunodeficiency_Homo sapiens_hsa053400.73037231
120Rap1 signaling pathway_Homo sapiens_hsa040150.71196624
121Biosynthesis of amino acids_Homo sapiens_hsa012300.69819652
122Vibrio cholerae infection_Homo sapiens_hsa051100.69661639
123Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.69260697
124Glutathione metabolism_Homo sapiens_hsa004800.69088934
125ErbB signaling pathway_Homo sapiens_hsa040120.68591331
126Hepatitis C_Homo sapiens_hsa051600.66937715
127Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.65882731
128Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.65828230
129Dilated cardiomyopathy_Homo sapiens_hsa054140.65654814
130Maturity onset diabetes of the young_Homo sapiens_hsa049500.64450824
131Renin secretion_Homo sapiens_hsa049240.63114926
132Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63050739
133Cocaine addiction_Homo sapiens_hsa050300.62388557
134Salivary secretion_Homo sapiens_hsa049700.61592747
135Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60792649
136Endocytosis_Homo sapiens_hsa041440.60416703
137Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.60145122
138Long-term depression_Homo sapiens_hsa047300.59687380
139Mineral absorption_Homo sapiens_hsa049780.58755093
140Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.58556228
141Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.57729243
142Jak-STAT signaling pathway_Homo sapiens_hsa046300.57714690
143Amphetamine addiction_Homo sapiens_hsa050310.56595769
144Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55428443
145Morphine addiction_Homo sapiens_hsa050320.55305338
146cGMP-PKG signaling pathway_Homo sapiens_hsa040220.55097120
147Systemic lupus erythematosus_Homo sapiens_hsa053220.54445339
148Acute myeloid leukemia_Homo sapiens_hsa052210.53600076
149Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.50712967
150Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.50221852
151Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49837246
152Fatty acid metabolism_Homo sapiens_hsa012120.49253788
153VEGF signaling pathway_Homo sapiens_hsa043700.49199926
154Arginine and proline metabolism_Homo sapiens_hsa003300.48756103
155Sulfur metabolism_Homo sapiens_hsa009200.48342673
156Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.48115081
157T cell receptor signaling pathway_Homo sapiens_hsa046600.47195047
158Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.46914735
159SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42686620
160HIF-1 signaling pathway_Homo sapiens_hsa040660.40120159
161Sphingolipid signaling pathway_Homo sapiens_hsa040710.39582510
162Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38863215
163Transcriptional misregulation in cancer_Homo sapiens_hsa052020.36259651
164Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34986994
165Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.32783477
166N-Glycan biosynthesis_Homo sapiens_hsa005100.30769264
167HTLV-I infection_Homo sapiens_hsa051660.30187466
168Viral carcinogenesis_Homo sapiens_hsa052030.22358969
169Oxidative phosphorylation_Homo sapiens_hsa001900.20672508
170Leukocyte transendothelial migration_Homo sapiens_hsa046700.17994516
171Pentose phosphate pathway_Homo sapiens_hsa000300.16232498
172Prolactin signaling pathway_Homo sapiens_hsa049170.11294485
173Cysteine and methionine metabolism_Homo sapiens_hsa002700.10854295
174Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.10181216
175PPAR signaling pathway_Homo sapiens_hsa033200.08379497
176Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.08232318
177Tryptophan metabolism_Homo sapiens_hsa003800.06033682
178Fructose and mannose metabolism_Homo sapiens_hsa000510.05986604
179Renin-angiotensin system_Homo sapiens_hsa046140.05257045
180Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.04490857

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