CRYBA4

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 acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)9.93314658
2* visual perception (GO:0007601)8.53290107
3* sensory perception of light stimulus (GO:0050953)8.42898298
4cytolysis (GO:0019835)7.98946803
5muscle cell cellular homeostasis (GO:0046716)7.51406280
6histone H3-K9 demethylation (GO:0033169)7.50941550
7protein refolding (GO:0042026)7.42086278
8maturation of SSU-rRNA (GO:0030490)7.16399660
9establishment of protein localization to mitochondrial membrane (GO:0090151)7.01028421
10cellular response to osmotic stress (GO:0071470)6.73128337
11bile acid and bile salt transport (GO:0015721)6.67708657
12regulation of protein sumoylation (GO:0033233)6.52685284
13myofibril assembly (GO:0030239)6.37965547
14* camera-type eye development (GO:0043010)5.97901113
15viral transcription (GO:0019083)5.51577307
16translational termination (GO:0006415)5.33255482
17phenol-containing compound catabolic process (GO:0019336)5.24518194
18* eye development (GO:0001654)4.97782977
19positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.86940877
20sarcomere organization (GO:0045214)4.77546141
21negative regulation of homotypic cell-cell adhesion (GO:0034111)4.72600993
22response to salt stress (GO:0009651)4.67647875
23amyloid precursor protein catabolic process (GO:0042987)4.58453238
24ribosomal small subunit biogenesis (GO:0042274)4.55567948
25insulin-like growth factor receptor signaling pathway (GO:0048009)4.55400662
26negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)4.51754775
27SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.50214917
28negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.47803434
29radial glial cell differentiation (GO:0060019)4.46053050
30translational elongation (GO:0006414)4.45102225
31cotranslational protein targeting to membrane (GO:0006613)4.42381759
32nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.42334892
33protein targeting to ER (GO:0045047)4.33857126
34neuron fate determination (GO:0048664)4.32907897
35mitotic metaphase plate congression (GO:0007080)4.25069299
36central nervous system myelination (GO:0022010)4.19882925
37axon ensheathment in central nervous system (GO:0032291)4.19882925
38hormone catabolic process (GO:0042447)4.16408896
39establishment of protein localization to endoplasmic reticulum (GO:0072599)4.15159877
40chromatin remodeling at centromere (GO:0031055)4.14189053
41protein localization to endoplasmic reticulum (GO:0070972)4.11194333
42translational initiation (GO:0006413)4.09316522
43L-serine metabolic process (GO:0006563)4.07793729
44cellular protein complex disassembly (GO:0043624)4.05032056
45lens development in camera-type eye (GO:0002088)36.0401192
46regulation of myoblast differentiation (GO:0045661)3.97936891
47auditory receptor cell differentiation (GO:0042491)3.95536251
48viral life cycle (GO:0019058)3.90963587
49* sensory perception (GO:0007600)3.90571974
50inner mitochondrial membrane organization (GO:0007007)3.83512129
51* sensory organ development (GO:0007423)3.80218354
52telomere maintenance via semi-conservative replication (GO:0032201)3.71396898
53DNA strand elongation involved in DNA replication (GO:0006271)3.71217854
54protein homotrimerization (GO:0070207)3.62825961
55protein complex disassembly (GO:0043241)3.60676617
56DNA replication checkpoint (GO:0000076)3.54481757
57lung epithelium development (GO:0060428)3.51970619
58DNA strand elongation (GO:0022616)3.51092698
59translation (GO:0006412)3.51029312
60kinetochore organization (GO:0051383)3.50807563
61kinetochore assembly (GO:0051382)3.49033674
62positive regulation of dendritic spine morphogenesis (GO:0061003)3.47583943
63CENP-A containing nucleosome assembly (GO:0034080)3.46845612
64negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.45293398
65regulation of platelet aggregation (GO:0090330)3.43540095
66regulation of Rac protein signal transduction (GO:0035020)3.41346303
67nucleobase biosynthetic process (GO:0046112)3.41307478
68mitochondrial respiratory chain complex I assembly (GO:0032981)3.39192226
69NADH dehydrogenase complex assembly (GO:0010257)3.39192226
70mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.39192226
71macromolecular complex disassembly (GO:0032984)3.38918680
72response to folic acid (GO:0051593)3.32506056
73base-excision repair, AP site formation (GO:0006285)3.27737879
74water transport (GO:0006833)3.26827681
75DNA damage response, detection of DNA damage (GO:0042769)3.25713327
76pattern specification involved in kidney development (GO:0061004)3.25640220
77pentose metabolic process (GO:0019321)3.24847435
78nuclear-transcribed mRNA catabolic process (GO:0000956)3.24677210
79heterochromatin organization (GO:0070828)3.24524886
80cellular modified amino acid catabolic process (GO:0042219)3.20374287
81brain morphogenesis (GO:0048854)3.20247692
82mitotic chromosome condensation (GO:0007076)3.19018787
83regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.18869921
84regulation of mitotic spindle checkpoint (GO:1903504)3.18869921
85intermediate filament cytoskeleton organization (GO:0045104)3.18175970
86nephron epithelium morphogenesis (GO:0072088)3.17917073
87nephron tubule morphogenesis (GO:0072078)3.17917073
88negative regulation of RNA splicing (GO:0033119)3.15185065
89positive regulation of wound healing (GO:0090303)3.14318047
90exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.12385306
91chaperone-mediated protein transport (GO:0072321)3.11791049
92IMP biosynthetic process (GO:0006188)3.11464010
93positive regulation of calcium ion transport into cytosol (GO:0010524)3.10609023
94metaphase plate congression (GO:0051310)3.10373182
95mitochondrial respiratory chain complex assembly (GO:0033108)3.10292871
96purine nucleobase biosynthetic process (GO:0009113)3.09995170
97ATP synthesis coupled proton transport (GO:0015986)3.09030664
98energy coupled proton transport, down electrochemical gradient (GO:0015985)3.09030664
99regulation of skeletal muscle fiber development (GO:0048742)3.08393797
100protein complex biogenesis (GO:0070271)3.08257176
101GMP metabolic process (GO:0046037)3.08114616
102mRNA catabolic process (GO:0006402)3.06856572
103intermediate filament-based process (GO:0045103)3.06493566
104negative regulation of mRNA processing (GO:0050686)3.06006095
105mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.03735857
106DNA replication-independent nucleosome organization (GO:0034724)3.03445683
107DNA replication-independent nucleosome assembly (GO:0006336)3.03445683
108DNA topological change (GO:0006265)3.02764937
109nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.02029236
110homocysteine metabolic process (GO:0050667)3.01940210
111lens fiber cell development (GO:0070307)26.1871696
112lens fiber cell differentiation (GO:0070306)20.8305771
113beta-amyloid metabolic process (GO:0050435)2.98681932
114serine family amino acid biosynthetic process (GO:0009070)2.95729670
115cellular response to calcium ion (GO:0071277)2.95592385
116telomere maintenance via telomere lengthening (GO:0010833)2.95498740
117ribonucleoprotein complex biogenesis (GO:0022613)2.95001549
118DNA replication initiation (GO:0006270)2.93044475
119telomere maintenance via recombination (GO:0000722)2.91319604
120regulation of telomerase activity (GO:0051972)2.88870194
121RNA catabolic process (GO:0006401)2.88740435
122mismatch repair (GO:0006298)2.88629681
123mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.88245874
124negative regulation of ligase activity (GO:0051352)2.88099488
125negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.88099488
126protein targeting to mitochondrion (GO:0006626)2.85663794
127histone exchange (GO:0043486)2.84933117
128protein targeting to membrane (GO:0006612)2.84742652
129cellular component biogenesis (GO:0044085)2.83094703
130amyloid precursor protein metabolic process (GO:0042982)2.81972125
131nucleotide-excision repair, DNA gap filling (GO:0006297)2.81595331
132endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.81546338
133fluid transport (GO:0042044)2.81124028
134glutamine metabolic process (GO:0006541)2.80560832
135nuclear pore complex assembly (GO:0051292)2.80552094
136dopaminergic neuron differentiation (GO:0071542)2.67886102
137negative regulation of platelet activation (GO:0010544)2.67840643
138response to activity (GO:0014823)2.67752835
139histone lysine demethylation (GO:0070076)2.61065307
140actomyosin structure organization (GO:0031032)2.55622228
141mating behavior (GO:0007617)2.51817118
142activation of JUN kinase activity (GO:0007257)2.51718205
143cerebellar granule cell differentiation (GO:0021707)2.48698265
144skeletal muscle organ development (GO:0060538)2.46854578
145respiratory tube development (GO:0030323)2.46397077
146epithelial cell development (GO:0002064)2.46222995
147histone demethylation (GO:0016577)2.42357986
148negative regulation of cell size (GO:0045792)2.40120149
149regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.37580755
150L-alpha-amino acid transmembrane transport (GO:1902475)2.35222124
151regulation of myotube differentiation (GO:0010830)2.34053049
152lung-associated mesenchyme development (GO:0060484)2.32204787
153basement membrane organization (GO:0071711)2.29673028
154response to osmotic stress (GO:0006970)2.21064941
155regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.17880491
156diaphragm development (GO:0060539)2.16758002
157cell-cell junction assembly (GO:0007043)2.16142562
158regulation of homotypic cell-cell adhesion (GO:0034110)2.15415744
159protein demethylation (GO:0006482)2.13394619
160protein dealkylation (GO:0008214)2.13394619
161negative regulation of potassium ion transmembrane transport (GO:1901380)2.05773640
162carnitine shuttle (GO:0006853)2.03070606
163apoptotic process involved in morphogenesis (GO:0060561)2.02915240
164positive regulation of dendrite morphogenesis (GO:0050775)2.02277173
165positive regulation of dendritic spine development (GO:0060999)2.02141824
166negative regulation of hormone metabolic process (GO:0032351)2.01426135
167negative regulation of hormone biosynthetic process (GO:0032353)2.01426135
168collecting duct development (GO:0072044)2.00448960
169metanephric tubule development (GO:0072170)2.00142540
170metanephric nephron tubule development (GO:0072234)2.00142540
171lens morphogenesis in camera-type eye (GO:0002089)10.5829170
172response to muscle activity (GO:0014850)10.2001926
173protein localization to cell surface (GO:0034394)1.99514931
174negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.98390447
175apoptotic process involved in development (GO:1902742)1.96902688
176cytoskeletal anchoring at plasma membrane (GO:0007016)1.96618819
177prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.96347910
178protein trimerization (GO:0070206)1.92439793
179neuronal stem cell maintenance (GO:0097150)1.90506048
180dorsal/ventral axis specification (GO:0009950)1.88979340
181positive regulation of developmental growth (GO:0048639)1.87497883
182metanephric nephron epithelium development (GO:0072243)1.87175956
183regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.86044071
184cell maturation (GO:0048469)1.81177385
185fatty acid transmembrane transport (GO:1902001)1.77225941
186anatomical structure regression (GO:0060033)1.76647897
187cellular response to prostaglandin stimulus (GO:0071379)1.76049437
188cellular response to vitamin D (GO:0071305)1.74031988
189regulation of skeletal muscle tissue development (GO:0048641)1.71663435
190bone trabecula formation (GO:0060346)1.71383146
191regulation of dendritic spine morphogenesis (GO:0061001)1.71103084
192regulation of striated muscle cell differentiation (GO:0051153)1.70923399
193regulation of calcium ion transport into cytosol (GO:0010522)1.70671115
194cartilage morphogenesis (GO:0060536)1.67913152
195regulation of platelet activation (GO:0010543)1.67514323
196negative regulation of JUN kinase activity (GO:0043508)1.63688661
197regulation of wound healing (GO:0061041)1.63557776
198regulation of glucocorticoid metabolic process (GO:0031943)1.63453372
199planar cell polarity pathway involved in neural tube closure (GO:0090179)1.62260817

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse9.54588991
2E2F7_22180533_ChIP-Seq_HELA_Human6.95203184
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.18776488
4ZNF652_21678463_ChIP-ChIP_ZR75-1_Human4.90359476
5MYC_18555785_ChIP-Seq_MESCs_Mouse4.32965498
6CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.12886778
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.87447707
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.64903829
9IKZF1_21737484_ChIP-ChIP_HCT116_Human3.54395059
10MYC_19079543_ChIP-ChIP_MESCs_Mouse3.34880485
11EGR1_19032775_ChIP-ChIP_M12_Human3.22000799
12E2F4_17652178_ChIP-ChIP_JURKAT_Human3.14254271
13EST1_17652178_ChIP-ChIP_JURKAT_Human3.12035703
14CREB1_15753290_ChIP-ChIP_HEK293T_Human3.06624547
15ETS1_20019798_ChIP-Seq_JURKAT_Human3.02170231
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.00871928
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.99491281
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.99245564
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.97803740
20PCGF2_27294783_Chip-Seq_NPCs_Mouse2.96721680
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.89560565
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.82462350
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.67385190
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.64408999
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.57383703
26XRN2_22483619_ChIP-Seq_HELA_Human2.49719161
27BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.49630956
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.35893132
29THAP11_20581084_ChIP-Seq_MESCs_Mouse2.35076258
30FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28884543
31HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.25360669
32TTF2_22483619_ChIP-Seq_HELA_Human2.23860226
33E2F1_18555785_ChIP-Seq_MESCs_Mouse2.22190328
34FOXP3_21729870_ChIP-Seq_TREG_Human2.04484279
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.03246528
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.01787391
37DCP1A_22483619_ChIP-Seq_HELA_Human2.00565905
38EZH2_18974828_ChIP-Seq_MESCs_Mouse1.98341299
39RNF2_18974828_ChIP-Seq_MESCs_Mouse1.98341299
40SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.93371131
41SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.88992676
42NANOG_18555785_ChIP-Seq_MESCs_Mouse1.88143895
43E2F1_21310950_ChIP-Seq_MCF-7_Human1.84485756
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.82453261
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.81892837
46NFE2_27457419_Chip-Seq_LIVER_Mouse1.81347567
47JARID2_20064375_ChIP-Seq_MESCs_Mouse1.80422098
48PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.78591841
49YY1_21170310_ChIP-Seq_MESCs_Mouse1.74953044
50EZH2_22144423_ChIP-Seq_EOC_Human1.72207125
51EGR1_19374776_ChIP-ChIP_THP-1_Human1.71457381
52ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.71316746
53GABP_19822575_ChIP-Seq_HepG2_Human1.70885824
54ELF1_17652178_ChIP-ChIP_JURKAT_Human1.70639003
55SOX2_18555785_ChIP-Seq_MESCs_Mouse1.70497146
56POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.69555116
57SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.66711221
58ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.66693266
59MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.66315033
60YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66230991
61VDR_23849224_ChIP-Seq_CD4+_Human1.65991759
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.64538294
63EED_16625203_ChIP-ChIP_MESCs_Mouse1.62123402
64GATA3_24758297_ChIP-Seq_MCF-7_Human1.60231356
65NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.58616261
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.56132875
67RNF2_27304074_Chip-Seq_ESCs_Mouse1.54778094
68ELK1_19687146_ChIP-ChIP_HELA_Human1.53133597
69MYCN_18555785_ChIP-Seq_MESCs_Mouse1.52825849
70TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.52552741
71WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.51960610
72SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.51134079
73TP63_17297297_ChIP-ChIP_HaCaT_Human1.47918247
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.47694485
75DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.46254487
76SOX2_22085726_ChIP-Seq_NPCs_Mouse1.45652320
77NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.42791575
78MYC_18940864_ChIP-ChIP_HL60_Human1.40119312
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.39188861
80CBX2_27304074_Chip-Seq_ESCs_Mouse1.38804383
81NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.38697948
82SRF_21415370_ChIP-Seq_HL-1_Mouse1.38059618
83MTF2_20144788_ChIP-Seq_MESCs_Mouse1.37894195
84EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.37671414
85GATA1_22025678_ChIP-Seq_K562_Human1.37552466
86CTCF_27219007_Chip-Seq_Bcells_Human1.36882548
87SOX2_16153702_ChIP-ChIP_HESCs_Human1.34422102
88JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34145949
89LXR_22292898_ChIP-Seq_THP-1_Human1.33361588
90JARID2_20075857_ChIP-Seq_MESCs_Mouse1.32382757
91EP300_21415370_ChIP-Seq_HL-1_Mouse1.32366806
92KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.32243185
93JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31539498
94ZFX_18555785_ChIP-Seq_MESCs_Mouse1.31283087
95STAT3_1855785_ChIP-Seq_MESCs_Mouse1.30926994
96CTCF_18555785_ChIP-Seq_MESCs_Mouse1.30865819
97CTCF_18555785_Chip-Seq_ESCs_Mouse1.28905420
98* NANOG_16153702_ChIP-ChIP_HESCs_Human1.28387962
99EZH2_27304074_Chip-Seq_ESCs_Mouse1.27761646
100EZH2_27294783_Chip-Seq_ESCs_Mouse1.26477289
101* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.26258096
102SMAD1_18555785_Chip-Seq_ESCs_Mouse1.25360849
103ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.25302097
104E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.23792415
105TP53_20018659_ChIP-ChIP_R1E_Mouse1.23391319
106* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22069175
107RUNX1_27457419_Chip-Seq_LIVER_Mouse1.21171373
108KDM5A_27292631_Chip-Seq_BREAST_Human1.21030317
109FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.20957535
110TBX3_20139965_ChIP-Seq_MESCs_Mouse1.20658929
111ZFP281_18757296_ChIP-ChIP_E14_Mouse1.20448523
112CIITA_25753668_ChIP-Seq_RAJI_Human1.20039920
113CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.19299151
114TBX3_20139965_ChIP-Seq_ESCs_Mouse1.19020029
115ZNF263_19887448_ChIP-Seq_K562_Human1.18970542
116CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18903406
117BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.18443817
118PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.18329382
119SALL4_22934838_ChIP-ChIP_CD34+_Human1.16936522
120TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.16630521
121ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.16086916
122TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.15840976
123GATA1_19941827_ChIP-Seq_MEL86_Mouse1.14946130
124ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13641922
125SALL1_21062744_ChIP-ChIP_HESCs_Human1.12330400
126FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.11611098
127SOX2_18692474_ChIP-Seq_MEFs_Mouse1.10995876
128RBPJ_22232070_ChIP-Seq_NCS_Mouse1.10740914
129KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.09175187
130KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.09026977
131KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.09026977
132KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.09026977
133SMC3_22415368_ChIP-Seq_MEFs_Mouse1.08740455
134TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.08353086
135SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07770305
136AR_21909140_ChIP-Seq_LNCAP_Human1.07228435
137RING1B_27294783_Chip-Seq_NPCs_Mouse1.05817538
138FOXA2_19822575_ChIP-Seq_HepG2_Human1.04179918
139VDR_22108803_ChIP-Seq_LS180_Human1.04020284
140PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03851240
141PU1_27457419_Chip-Seq_LIVER_Mouse1.03675260
142ELK3_25401928_ChIP-Seq_HUVEC_Human1.03565227
143ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02086761
144CLOCK_20551151_ChIP-Seq_293T_Human1.02062896
145FOXP1_21924763_ChIP-Seq_HESCs_Human1.01997468
146RING1B_27294783_Chip-Seq_ESCs_Mouse1.00850809
147GATA2_21666600_ChIP-Seq_HMVEC_Human1.00014442
148SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.99969640
149SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99963244
150SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.99531599
151SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99136774
152KDM2B_26808549_Chip-Seq_K562_Human0.98493935
153SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.98214745
154ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97656956
155ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.97437167
156SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.97102416
157KDM2B_26808549_Chip-Seq_SUP-B15_Human0.96838870
158NR3C1_23031785_ChIP-Seq_PC12_Mouse0.96725503
159PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96548922
160EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.95859437
161MYC_22102868_ChIP-Seq_BL_Human0.93717386
162SUZ12_27294783_Chip-Seq_ESCs_Mouse0.93563955
163SOX2_18692474_ChIP-Seq_MESCs_Mouse0.92380672
164EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.91895251
165SMAD3_21741376_ChIP-Seq_ESCs_Human0.91305111
166NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.90692422
167SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.90121821
168CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89883051
169CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.89826668
170* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88504170
171OCT4_18692474_ChIP-Seq_MEFs_Mouse0.88161059
172ZNF274_21170338_ChIP-Seq_K562_Hela0.86828370
173SMC1_22415368_ChIP-Seq_MEFs_Mouse0.86510524
174PADI4_21655091_ChIP-ChIP_MCF-7_Human0.85827223
175ESR2_21235772_ChIP-Seq_MCF-7_Human0.85304864
176SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.84910006
177CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.84730136
178SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84126493
179ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83939452
180KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83792753
181CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.83756660
182OCT4_19829295_ChIP-Seq_ESCs_Human0.83299993
183CRX_20693478_ChIP-Seq_RETINA_Mouse0.83118303
184NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.82243641
185CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.81711258
186OCT4_21477851_ChIP-Seq_ESCs_Mouse0.80480681
187BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.80191541
188SA1_27219007_Chip-Seq_Bcells_Human0.80164881
189KDM2B_26808549_Chip-Seq_JURKAT_Human0.80076378
190NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.79609387
191RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.79605196
192TCF3_18692474_ChIP-Seq_MEFs_Mouse0.78899244
193KAP1_27257070_Chip-Seq_ESCs_Mouse0.78638651
194CJUN_26792858_Chip-Seq_BT549_Human0.78187457
195P53_22127205_ChIP-Seq_FIBROBLAST_Human0.77997925
196RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.77993238
197CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.77934380

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005193_abnormal_anterior_eye9.08335645
2MP0003122_maternal_imprinting6.38575987
3MP0005253_abnormal_eye_physiology4.93585369
4MP0009379_abnormal_foot_pigmentation4.55342491
5MP0005377_hearing/vestibular/ear_phenot4.32916941
6MP0003878_abnormal_ear_physiology4.32916941
7MP0000749_muscle_degeneration3.80130464
8MP0001286_abnormal_eye_development3.74904910
9MP0005197_abnormal_uvea_morphology3.70964879
10MP0002092_abnormal_eye_morphology3.64537646
11MP0003121_genomic_imprinting3.63604794
12MP0003693_abnormal_embryo_hatching3.38207745
13MP0003941_abnormal_skin_development3.21166917
14MP0005391_vision/eye_phenotype3.13525993
15MP0004957_abnormal_blastocyst_morpholog2.80970311
16MP0003111_abnormal_nucleus_morphology2.80466624
17MP0008058_abnormal_DNA_repair2.55876243
18MP0002090_abnormal_vision2.49552197
19MP0008932_abnormal_embryonic_tissue2.43754851
20MP0010094_abnormal_chromosome_stability2.30530983
21MP0003077_abnormal_cell_cycle2.16509647
22MP0001346_abnormal_lacrimal_gland2.11077942
23MP0002697_abnormal_eye_size14.0517673
24MP0002938_white_spotting1.98886290
25MP0008877_abnormal_DNA_methylation1.95484028
26MP0001293_anophthalmia1.85384954
27MP0003136_yellow_coat_color1.83663702
28MP0010030_abnormal_orbit_morphology1.79746055
29MP0000372_irregular_coat_pigmentation1.75870622
30MP0001485_abnormal_pinna_reflex1.67273708
31MP0008007_abnormal_cellular_replicative1.65577498
32MP0002108_abnormal_muscle_morphology1.63177301
33MP0003718_maternal_effect1.62702325
34MP0005330_cardiomyopathy1.59992305
35MP0004272_abnormal_basement_membrane1.55706884
36MP0003567_abnormal_fetal_cardiomyocyte1.55175153
37MP0002269_muscular_atrophy1.52010380
38MP0002638_abnormal_pupillary_reflex1.51032221
39MP0004147_increased_porphyrin_level1.50405260
40MP0001188_hyperpigmentation1.43545814
41MP0010368_abnormal_lymphatic_system1.39186918
42MP0008789_abnormal_olfactory_epithelium1.31234428
43MP0005394_taste/olfaction_phenotype1.29007682
44MP0005499_abnormal_olfactory_system1.29007682
45MP0003705_abnormal_hypodermis_morpholog1.24048990
46MP0002210_abnormal_sex_determination1.22084233
47MP0005195_abnormal_posterior_eye1.20044919
48MP0003890_abnormal_embryonic-extraembry1.12389712
49MP0008995_early_reproductive_senescence1.09407061
50MP0000678_abnormal_parathyroid_gland1.08002044
51MP0003937_abnormal_limbs/digits/tail_de1.06495409
52MP0002254_reproductive_system_inflammat1.06473569
53MP0000631_abnormal_neuroendocrine_gland1.06081208
54MP0002233_abnormal_nose_morphology1.05773180
55MP0001299_abnormal_eye_distance/1.05702212
56MP0006035_abnormal_mitochondrial_morpho1.05616046
57MP0002132_abnormal_respiratory_system1.03701771
58MP0004133_heterotaxia1.03469167
59MP0001672_abnormal_embryogenesis/_devel1.02016738
60MP0005380_embryogenesis_phenotype1.02016738
61MP0005551_abnormal_eye_electrophysiolog0.98719039
62MP0002735_abnormal_chemical_nociception0.98546993
63MP0008057_abnormal_DNA_replication0.95269344
64MP0002085_abnormal_embryonic_tissue0.95123571
65MP0005084_abnormal_gallbladder_morpholo0.95016491
66MP0002139_abnormal_hepatobiliary_system0.91871813
67MP0002111_abnormal_tail_morphology0.91678581
68MP0003786_premature_aging0.89626799
69MP0003938_abnormal_ear_development0.88771570
70MP0001340_abnormal_eyelid_morphology0.86557949
71MP0000350_abnormal_cell_proliferation0.84723568
72MP0001730_embryonic_growth_arrest0.83962450
73MP0004087_abnormal_muscle_fiber0.83831283
74MP0002080_prenatal_lethality0.82226792
75MP0003984_embryonic_growth_retardation0.81313656
76MP0001145_abnormal_male_reproductive0.78008165
77MP0002088_abnormal_embryonic_growth/wei0.77832252
78MP0001529_abnormal_vocalization0.76419136
79MP0002084_abnormal_developmental_patter0.75261532
80MP0001929_abnormal_gametogenesis0.74324973
81MP0005319_abnormal_enzyme/_coenzyme0.74063315
82MP0001697_abnormal_embryo_size0.73022456
83MP0002161_abnormal_fertility/fecundity0.72908788
84MP0000653_abnormal_sex_gland0.72101647
85MP0005408_hypopigmentation0.70786610
86MP0002095_abnormal_skin_pigmentation0.70398753
87MP0002277_abnormal_respiratory_mucosa0.69970791
88MP0009333_abnormal_splenocyte_physiolog0.69959515
89MP0002751_abnormal_autonomic_nervous0.68811315
90MP0005369_muscle_phenotype0.68785584
91MP0006072_abnormal_retinal_apoptosis0.68334293
92MP0005083_abnormal_biliary_tract0.68267640
93MP0009053_abnormal_anal_canal0.67772175
94MP0002138_abnormal_hepatobiliary_system0.66961190
95MP0003879_abnormal_hair_cell0.66730982
96MP0001661_extended_life_span0.66443715
97MP0006036_abnormal_mitochondrial_physio0.66330458
98MP0000026_abnormal_inner_ear0.65166091
99MP0000759_abnormal_skeletal_muscle0.64764026
100MP0003861_abnormal_nervous_system0.64413813
101MP0002102_abnormal_ear_morphology0.64350706
102MP0000313_abnormal_cell_death0.63759958
103MP0003252_abnormal_bile_duct0.61093617
104MP0003755_abnormal_palate_morphology0.60208009
105MP0000049_abnormal_middle_ear0.60142672
106MP0000358_abnormal_cell_content/0.59934958
107MP0000647_abnormal_sebaceous_gland0.59296207
108MP0001919_abnormal_reproductive_system0.58982712
109MP0001984_abnormal_olfaction0.57588410
110MP0001119_abnormal_female_reproductive0.55761480
111MP0003186_abnormal_redox_activity0.55690486
112MP0004859_abnormal_synaptic_plasticity0.55478995
113MP0003936_abnormal_reproductive_system0.54501106
114MP0003123_paternal_imprinting0.54280514
115MP0000751_myopathy0.54053599
116MP0003698_abnormal_male_reproductive0.53476668
117MP0004264_abnormal_extraembryonic_tissu0.51858102
118MP0005187_abnormal_penis_morphology0.51686643
119MP0002557_abnormal_social/conspecific_i0.51258748
120MP0010234_abnormal_vibrissa_follicle0.51095089
121MP0008872_abnormal_physiological_respon0.50069471
122MP0003566_abnormal_cell_adhesion0.49193763
123MP0000747_muscle_weakness0.49067536
124MP0001905_abnormal_dopamine_level0.47016814
125MP0000537_abnormal_urethra_morphology0.45806464
126MP0001915_intracranial_hemorrhage0.45567964
127MP0002736_abnormal_nociception_after0.45355620
128MP0004885_abnormal_endolymph0.43808661
129MP0002089_abnormal_postnatal_growth/wei0.43040213
130MP0001879_abnormal_lymphatic_vessel0.42980219
131MP0002734_abnormal_mechanical_nocicepti0.41906923
132MP0004084_abnormal_cardiac_muscle0.41588970
133MP0002249_abnormal_larynx_morphology0.38205328
134MP0009780_abnormal_chondrocyte_physiolo0.38094244
135MP0006292_abnormal_olfactory_placode0.37522399
136MP0005085_abnormal_gallbladder_physiolo0.37416933
137MP0001324_abnormal_eye_pigmentation0.37147578
138MP0002653_abnormal_ependyma_morphology0.37042318
139MP0005248_abnormal_Harderian_gland0.36819334
140MP0003329_amyloid_beta_deposits0.36646978
141MP0001968_abnormal_touch/_nociception0.36433139
142MP0003656_abnormal_erythrocyte_physiolo0.34885608
143MP0005257_abnormal_intraocular_pressure0.32949246
144MP0008438_abnormal_cutaneous_collagen0.32615549
145MP0003942_abnormal_urinary_system0.32606979
146MP0003635_abnormal_synaptic_transmissio0.32184777
147MP0002837_dystrophic_cardiac_calcinosis0.31977439
148MP0003115_abnormal_respiratory_system0.31013540
149MP0003787_abnormal_imprinting0.30929235
150MP0004134_abnormal_chest_morphology0.29709433
151MP0001958_emphysema0.28539754
152MP0002925_abnormal_cardiovascular_devel0.28215174
153MP0001943_abnormal_respiration0.28052264
154MP0009250_abnormal_appendicular_skeleto0.27622896
155MP0000428_abnormal_craniofacial_morphol0.26902770
156MP0002177_abnormal_outer_ear0.26789438
157MP0002106_abnormal_muscle_physiology0.26252169
158MP0002295_abnormal_pulmonary_circulatio0.26046695
159MP0003303_peritoneal_inflammation0.25707613
160MP0005360_urolithiasis0.25691158
161MP0004145_abnormal_muscle_electrophysio0.25617738
162MP0004270_analgesia0.24980392
163MP0004858_abnormal_nervous_system0.24840825
164MP0004036_abnormal_muscle_relaxation0.24367409
165MP0001614_abnormal_blood_vessel0.23946465
166MP0001784_abnormal_fluid_regulation0.23385709
167MP0003011_delayed_dark_adaptation0.23181696
168MP0002909_abnormal_adrenal_gland0.21928640
169MP0004197_abnormal_fetal_growth/weight/0.21838148
170MP0002282_abnormal_trachea_morphology0.21318495
171MP0005623_abnormal_meninges_morphology0.20994996
172MP0005647_abnormal_sex_gland0.20547607
173MP0002733_abnormal_thermal_nociception0.20313449
174MP0002128_abnormal_blood_circulation0.20231869
175MP0000266_abnormal_heart_morphology0.19958489
176MP0004811_abnormal_neuron_physiology0.19957517
177MP0002063_abnormal_learning/memory/cond0.19880024
178MP0004185_abnormal_adipocyte_glucose0.19857665
179MP0000604_amyloidosis0.19794868
180MP0004233_abnormal_muscle_weight0.19329793
181MP0003137_abnormal_impulse_conducting0.18605373
182MP0000465_gastrointestinal_hemorrhage0.17953468
183MP0003959_abnormal_lean_body0.17813650
184MP0000955_abnormal_spinal_cord0.17424726
185MP0010630_abnormal_cardiac_muscle0.17375887

Predicted human phenotypes

RankGene SetZ-score
1Congenital cataract (HP:0000519)8.10204739
2Amblyopia (HP:0000646)7.13838184
3* Corneal dystrophy (HP:0001131)6.35243845
4Anterior segment dysgenesis (HP:0007700)6.04211917
5Reticulocytopenia (HP:0001896)5.91039112
6Abnormality of cells of the erythroid lineage (HP:0012130)4.76199964
7Polar cataract (HP:0010696)4.56346229
8Acute necrotizing encephalopathy (HP:0006965)4.52695672
9Abnormal number of erythroid precursors (HP:0012131)4.34926964
10Septo-optic dysplasia (HP:0100842)4.17288026
11Chromosomal breakage induced by crosslinking agents (HP:0003221)4.12439753
12Clumsiness (HP:0002312)4.04696836
13Abnormal mitochondria in muscle tissue (HP:0008316)3.98814814
14Chromsome breakage (HP:0040012)3.76090786
15Acute encephalopathy (HP:0006846)3.75305305
16Macrocytic anemia (HP:0001972)3.59042094
17Progressive macrocephaly (HP:0004481)3.57708230
18Secondary amenorrhea (HP:0000869)3.48576629
19Duplication of thumb phalanx (HP:0009942)3.42327046
20Cerebral edema (HP:0002181)3.41981685
21Abnormality of the labia minora (HP:0012880)3.25302607
22Birth length less than 3rd percentile (HP:0003561)3.20197902
23* Microcornea (HP:0000482)3.19277857
24Homocystinuria (HP:0002156)3.14303817
25Abnormality of homocysteine metabolism (HP:0010919)3.14303817
26Absent thumb (HP:0009777)3.14018493
27Partial duplication of thumb phalanx (HP:0009944)3.02854846
28Nuclear cataract (HP:0100018)28.1437591
29* Zonular cataract (HP:0010920)23.5143765
30Colon cancer (HP:0003003)2.99637038
31Pallor (HP:0000980)2.95195969
32Eosinophilia (HP:0001880)2.92185026
33Mitochondrial inheritance (HP:0001427)2.85222877
34Increased CSF lactate (HP:0002490)2.83123813
35Squamous cell carcinoma (HP:0002860)2.78259425
36Abnormality of pyrimidine metabolism (HP:0004353)2.77497777
37Partial duplication of the phalanx of hand (HP:0009999)2.61737396
38Overriding aorta (HP:0002623)2.61729666
39Horseshoe kidney (HP:0000085)2.61381259
40Hyperthyroidism (HP:0000836)2.58570729
41Morphological abnormality of the inner ear (HP:0011390)2.58373599
42Abnormality of the anterior chamber (HP:0000593)2.57732782
43Duplicated collecting system (HP:0000081)2.56617602
44Abnormality of reticulocytes (HP:0004312)2.54133861
45* Iris coloboma (HP:0000612)2.48545752
46Insomnia (HP:0100785)2.46804101
47Ectopic kidney (HP:0000086)2.43834448
48Elfin facies (HP:0004428)2.43028838
49Abnormality of the diencephalon (HP:0010662)2.42475207
50Vertebral hypoplasia (HP:0008417)2.40892676
51Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.40892676
52Absent septum pellucidum (HP:0001331)2.39019548
53Meckel diverticulum (HP:0002245)2.37677459
54Leukodystrophy (HP:0002415)2.35809534
55Short thumb (HP:0009778)2.35149384
56Aplasia/Hypoplasia of the uvula (HP:0010293)2.35079037
57Sclerocornea (HP:0000647)2.32852624
58Granulocytopenia (HP:0001913)2.31836000
59* Opacification of the corneal stroma (HP:0007759)2.31439082
60Abnormality of the carotid arteries (HP:0005344)2.29554624
61Aplasia/Hypoplasia of the sacrum (HP:0008517)2.28506107
62Adrenal hypoplasia (HP:0000835)2.27919401
63Renal duplication (HP:0000075)2.27109269
64Abnormality of the preputium (HP:0100587)2.25862795
65Abnormality of the renal collecting system (HP:0004742)2.24253676
66Tracheoesophageal fistula (HP:0002575)2.21916397
67Scapular winging (HP:0003691)2.21092161
68Pancytopenia (HP:0001876)2.20295362
69Cholecystitis (HP:0001082)2.19414949
70Abnormal gallbladder physiology (HP:0012438)2.19414949
71Abnormality of the ileum (HP:0001549)2.19328408
72Cortical dysplasia (HP:0002539)2.18605852
73Median cleft lip (HP:0000161)2.18054158
74Abnormality of chromosome stability (HP:0003220)2.17662652
75Cerebral hypomyelination (HP:0006808)2.17623168
76Amyloidosis (HP:0011034)2.16682914
77Proximal amyotrophy (HP:0007126)2.15935720
78Cellular immunodeficiency (HP:0005374)2.14435855
79Hepatocellular necrosis (HP:0001404)2.13880997
80Ileus (HP:0002595)2.13041948
81Increased nuchal translucency (HP:0010880)2.05516202
82Congenital primary aphakia (HP:0007707)2.05490310
83Upper limb muscle weakness (HP:0003484)2.05408809
84Short 1st metacarpal (HP:0010034)2.04311992
85Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.04311992
86Abnormality of the heme biosynthetic pathway (HP:0010472)2.03631038
87Renovascular hypertension (HP:0100817)2.02417672
88Holoprosencephaly (HP:0001360)2.01307567
89Maternal diabetes (HP:0009800)2.00833233
90Methylmalonic acidemia (HP:0002912)1.99978041
91Posterior subcapsular cataract (HP:0007787)1.99418126
92Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.99047430
93Abnormality of eosinophils (HP:0001879)1.98898620
94Flat cornea (HP:0007720)1.97143790
95Triphalangeal thumb (HP:0001199)1.96459910
96Porencephaly (HP:0002132)1.90119707
97Optic nerve hypoplasia (HP:0000609)1.89256268
98Abnormality of sulfur amino acid metabolism (HP:0004339)1.88798598
99Abnormality of the septum pellucidum (HP:0007375)1.87699388
100Rough bone trabeculation (HP:0100670)1.86653477
101Lipid accumulation in hepatocytes (HP:0006561)1.85893703
102Diaphragmatic weakness (HP:0009113)1.81885291
103Increased hepatocellular lipid droplets (HP:0006565)1.81444902
104Premature ovarian failure (HP:0008209)1.80615202
105Abnormal tarsal ossification (HP:0008369)1.80446131
106Lethargy (HP:0001254)1.79730102
107Myelodysplasia (HP:0002863)1.79498120
108Hemivertebrae (HP:0002937)1.78763523
109Aplasia/Hypoplasia of the lens (HP:0008063)1.78093580
110Breast hypoplasia (HP:0003187)1.77369124
111Pancreatic fibrosis (HP:0100732)1.76504136
112Abnormality of the 1st metacarpal (HP:0010009)1.76237638
113Methylmalonic aciduria (HP:0012120)1.75202382
114Optic disc pallor (HP:0000543)1.74933136
115Small intestinal stenosis (HP:0012848)1.74413029
116Duodenal stenosis (HP:0100867)1.74413029
117Hypertensive crisis (HP:0100735)1.72136354
118Neonatal respiratory distress (HP:0002643)1.67337467
119Aplasia/Hypoplasia of the macula (HP:0008059)1.63870426
120Fetal akinesia sequence (HP:0001989)1.57723239
121Aplasia/Hypoplasia affecting the retina (HP:0008061)1.55471353
122Popliteal pterygium (HP:0009756)1.52175072
123Long clavicles (HP:0000890)1.51449688
124Aplasia of the musculature (HP:0100854)1.48823586
125Abnormality of placental membranes (HP:0011409)1.38725932
126Amniotic constriction ring (HP:0009775)1.38725932
127Difficulty walking (HP:0002355)1.36010727
128Abnormality of the shoulder girdle musculature (HP:0001435)1.31859297
129Akinesia (HP:0002304)1.31684529
130Leukocytosis (HP:0001974)1.30789636
131Hypoplastic nipples (HP:0002557)1.27617979
132Subcapsular cataract (HP:0000523)1.10710112
133Rib fusion (HP:0000902)1.10286152
134Fused cervical vertebrae (HP:0002949)1.09674381
135Symphalangism affecting the phalanges of the hand (HP:0009773)1.06157225
136Vertebral clefting (HP:0008428)1.00972899
137Abnormality of the labia majora (HP:0012881)0.93327817
138Aplasia/Hypoplasia involving the musculature (HP:0001460)0.87010785
139Exostoses (HP:0100777)0.85888663
140Severe visual impairment (HP:0001141)0.81292268
141Pterygium (HP:0001059)0.80369251
142Thin ribs (HP:0000883)0.76633734
143Lymphangioma (HP:0100764)0.75958686
144Camptodactyly of toe (HP:0001836)0.75337401
145Malignant hyperthermia (HP:0002047)0.71992471
146Neoplasm of the heart (HP:0100544)0.70567509
147Hypoplastic heart (HP:0001961)0.68447991
148Muscle fiber splitting (HP:0003555)0.68094214
149Ependymoma (HP:0002888)0.65436318
150Abnormal number of incisors (HP:0011064)0.61780867
151Cystic hygroma (HP:0000476)0.58305319
152Hyporeflexia of lower limbs (HP:0002600)0.57777363
153Dislocated radial head (HP:0003083)0.57754438
154Split foot (HP:0001839)0.55768790
155Aplasia/Hypoplasia of the nipples (HP:0006709)0.55160473
156Diminished movement (HP:0002374)0.54612955
157Abnormality of the humeroradial joint (HP:0100744)0.54267217
158Abnormality of the radial head (HP:0003995)0.53104123
159Hypoplastic pelvis (HP:0008839)0.52271404
160Visceral angiomatosis (HP:0100761)0.52177006
161Pointed chin (HP:0000307)0.51880220
162Joint contractures involving the joints of the feet (HP:0100492)0.51428048
163Flexion contracture of toe (HP:0005830)0.51428048
164Hamartoma of the eye (HP:0010568)0.50944744
165Hepatoblastoma (HP:0002884)0.49049576
166Exercise-induced muscle cramps (HP:0003710)0.49018072
167* Autosomal dominant inheritance (HP:0000006)0.48429623
168Enlarged kidneys (HP:0000105)0.48280769
169Hemiplegia (HP:0002301)0.47556234
170Annular pancreas (HP:0001734)0.47471493
171Exercise-induced myalgia (HP:0003738)0.47336679
172Hemangiomatosis (HP:0007461)0.47245093
173Skin nodule (HP:0200036)0.47203618
174Astrocytoma (HP:0009592)0.46848179
175Abnormality of the astrocytes (HP:0100707)0.46848179
176Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.46710580
177Buphthalmos (HP:0000557)0.43580635
178Chorioretinal atrophy (HP:0000533)0.43093918
179Neonatal hypoglycemia (HP:0001998)0.42373111
180Broad nasal tip (HP:0000455)0.42291104
181Axonal loss (HP:0003447)0.41767060
182Patellar aplasia (HP:0006443)0.41348616
183Adenoma sebaceum (HP:0009720)0.40744987
184Angiofibromas (HP:0010615)0.40744987
185Overgrowth (HP:0001548)0.40387114
186Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.39894852
187Synostosis involving the elbow (HP:0003938)0.39183715
188Humeroradial synostosis (HP:0003041)0.39183715
189Intention tremor (HP:0002080)0.38739223
190Abnormality of the labia (HP:0000058)0.38709492
191Abnormality of the lumbar spine (HP:0100712)0.38451466
192Hypopigmentation of the fundus (HP:0007894)0.37896097
193Abnormality of cochlea (HP:0000375)0.37482645
194Deep venous thrombosis (HP:0002625)0.37006818
195Abnormal pancreas size (HP:0012094)0.36797762
196Cerebral aneurysm (HP:0004944)0.35981653

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.12221898
2BUB15.00992850
3BLK4.88524253
4TTK4.13429023
5SGK14.12288923
6PLK43.78436663
7SRPK13.02777283
8PASK2.97754827
9STK392.94843306
10WNK42.90341677
11BCKDK2.84305786
12CSNK1G32.83125660
13MST42.80846289
14FLT32.73415535
15PKN22.70278521
16MAP3K122.62198589
17NEK12.61683362
18PRKG12.59788322
19CDC72.54661007
20CSNK1G12.53016120
21NTRK12.52842599
22LIMK12.50170799
23TRIB32.41532801
24SIK12.35375733
25VRK22.32822169
26CSNK1G22.31086815
27TNIK2.30895909
28PBK2.21199198
29STK162.00632189
30TRIM282.00502103
31MAP3K101.96583501
32NME11.93733578
33LRRK21.73558272
34IGF1R1.71005000
35MAP3K111.70579896
36PDGFRA1.65744618
37PRKCB1.62176277
38MET1.59529752
39CHEK21.58844009
40AURKB1.52839411
41NME21.51232114
42INSR1.50951829
43PLK31.47319728
44MAPK101.40021416
45EPHB21.38637248
46DYRK21.29547199
47BRSK21.27909198
48TSSK61.27537862
49ZAP701.25015155
50ZAK1.22815747
51STK41.21333235
52ERBB21.19258834
53PNCK1.18997943
54BRAF1.18889851
55BTK1.17562121
56PRKACB1.16734536
57WNK11.15886124
58PAK41.15567739
59ICK1.12689179
60CDK61.12192724
61BMPR1B1.11555604
62BMX1.09980742
63PTK61.09106945
64STK101.06092234
65PLK11.05822183
66ATR1.04747902
67RPS6KA41.04727879
68RPS6KA31.02292777
69TAF10.98976888
70VRK10.98360341
71MKNK20.97301554
72WNK30.97225284
73PHKG10.96458665
74PHKG20.96458665
75CSF1R0.94345325
76PKN10.94325754
77CLK10.92265575
78EPHA40.89830693
79CDK80.88498156
80CDC42BPA0.88282899
81CHEK10.87210303
82PAK60.86455698
83STK240.84809738
84SCYL20.84626566
85ROCK20.84073140
86WEE10.84044447
87PTK20.83602516
88PRKCQ0.80531199
89NEK20.80321819
90CAMK1G0.79009729
91PRKACG0.78116378
92SMG10.77583583
93ILK0.77232854
94LATS10.75664335
95GRK10.73968109
96ARAF0.73413249
97MKNK10.73056147
98CDK70.71787367
99PAK30.70711579
100CAMKK10.70593163
101PAK10.68127860
102EPHA20.67653304
103CSNK1A10.65322273
104NUAK10.64884007
105TGFBR10.62681810
106TTN0.62469394
107BRSK10.62146383
108ROCK10.62012841
109ATM0.59184392
110SGK4940.57370011
111SGK2230.57370011
112CSNK2A10.57057457
113PINK10.56359710
114DYRK30.54623872
115* CSNK2A20.52248829
116TXK0.52230022
117PDK20.52177429
118MAP3K90.51715971
119DMPK0.50986716
120DYRK1A0.49487119
121FGFR10.49111322
122MAPKAPK50.47311427
123CDK20.46289856
124TEC0.45464704
125RPS6KA20.45429720
126CDK30.45261104
127MAP2K40.44850268
128CSNK1D0.43390745
129KDR0.43352774
130PAK20.43242761
131LATS20.42380915
132CDK10.41870971
133EGFR0.40446290
134TGFBR20.39911224
135EIF2AK10.39729958
136TBK10.37745934
137RPS6KB20.37569877
138PRKCH0.37026613
139CDK50.36607622
140TIE10.35852706
141PTK2B0.35352238
142FER0.35313828
143MINK10.35213881
144ADRBK10.33208510
145RPS6KA50.33051183
146RPS6KA10.31969275
147MAP4K20.31772723
148PDGFRB0.31306999
149KSR20.31029320
150AURKA0.30624785
151MAP3K50.29808365
152PRKDC0.29733511
153UHMK10.29139581
154NEK90.28809731
155ALK0.27992009
156PLK20.27931996
157IRAK20.27610290
158HIPK20.27461275
159MAPKAPK20.26782767
160FYN0.26261874
161MAPK90.26246318
162CDK90.25798232
163KSR10.24206374
164CAMK10.23978327
165CSNK1E0.23360128
166FES0.23292200
167RPS6KC10.23230605
168RPS6KL10.23230605
169JAK30.22603218
170DDR20.21529103
171MAPK120.21253320
172JAK10.20944831
173FGR0.20904571
174FGFR20.20609465
175PIM10.20485100
176PRKD10.19837192
177RPS6KA60.19314526
178LMTK20.19262632
179PDK10.18528681
180SRC0.17940637
181SYK0.17896000
182PRKACA0.17579835
183PDPK10.17162171
184RIPK10.16782210
185MAP3K80.16490979
186NTRK30.15623084
187CSNK1A1L0.14840937

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.35958166
2DNA replication_Homo sapiens_hsa030304.06411721
3Mismatch repair_Homo sapiens_hsa034303.62360429
4Base excision repair_Homo sapiens_hsa034103.17893044
5Proteasome_Homo sapiens_hsa030503.03638881
6One carbon pool by folate_Homo sapiens_hsa006702.72335187
7Homologous recombination_Homo sapiens_hsa034402.60477453
8Oxidative phosphorylation_Homo sapiens_hsa001902.56971691
9RNA polymerase_Homo sapiens_hsa030202.49325506
10Nitrogen metabolism_Homo sapiens_hsa009102.49105689
11Spliceosome_Homo sapiens_hsa030402.48602539
12Parkinsons disease_Homo sapiens_hsa050122.47713437
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.21231458
14Small cell lung cancer_Homo sapiens_hsa052222.20491662
15Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.19018131
16Huntingtons disease_Homo sapiens_hsa050162.12153319
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.11689384
18Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.06675860
19Pyrimidine metabolism_Homo sapiens_hsa002402.05095077
20Fanconi anemia pathway_Homo sapiens_hsa034601.92986577
21Central carbon metabolism in cancer_Homo sapiens_hsa052301.89068850
22RNA transport_Homo sapiens_hsa030131.88271290
23Steroid biosynthesis_Homo sapiens_hsa001001.87510631
24Hedgehog signaling pathway_Homo sapiens_hsa043401.78938439
25Basal cell carcinoma_Homo sapiens_hsa052171.75345851
26Adherens junction_Homo sapiens_hsa045201.72333975
27Nucleotide excision repair_Homo sapiens_hsa034201.71464911
28Protein export_Homo sapiens_hsa030601.67069330
29Alzheimers disease_Homo sapiens_hsa050101.60359284
30Non-homologous end-joining_Homo sapiens_hsa034501.60053982
31RNA degradation_Homo sapiens_hsa030181.58950073
32Melanogenesis_Homo sapiens_hsa049161.53387730
33Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.47197251
34mTOR signaling pathway_Homo sapiens_hsa041501.45926090
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.44399700
36Arginine biosynthesis_Homo sapiens_hsa002201.43472630
37ECM-receptor interaction_Homo sapiens_hsa045121.42717089
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.39674493
39Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.37605857
40Primary bile acid biosynthesis_Homo sapiens_hsa001201.37151159
41Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.37136000
42Cell cycle_Homo sapiens_hsa041101.35359923
43Selenocompound metabolism_Homo sapiens_hsa004501.34128289
44Purine metabolism_Homo sapiens_hsa002301.33316773
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28852551
46Folate biosynthesis_Homo sapiens_hsa007901.28756862
47Phototransduction_Homo sapiens_hsa047441.28605856
48Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26575284
49Proteoglycans in cancer_Homo sapiens_hsa052051.26524020
50Fatty acid degradation_Homo sapiens_hsa000711.25329475
51Circadian entrainment_Homo sapiens_hsa047131.25295530
52Insulin signaling pathway_Homo sapiens_hsa049101.20951024
53Olfactory transduction_Homo sapiens_hsa047401.20530634
54Glioma_Homo sapiens_hsa052141.19305123
55GABAergic synapse_Homo sapiens_hsa047271.18763614
56Amoebiasis_Homo sapiens_hsa051461.17567276
57Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.16485659
58Pyruvate metabolism_Homo sapiens_hsa006201.15621598
59Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.14960205
60Notch signaling pathway_Homo sapiens_hsa043301.14371038
61Basal transcription factors_Homo sapiens_hsa030221.14131000
62Synaptic vesicle cycle_Homo sapiens_hsa047211.13079690
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.09479615
64Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.08847383
65Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.08776866
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.08069329
67Protein digestion and absorption_Homo sapiens_hsa049741.06867290
68Focal adhesion_Homo sapiens_hsa045101.06675389
69Fatty acid elongation_Homo sapiens_hsa000621.05895962
70Vitamin B6 metabolism_Homo sapiens_hsa007501.05601219
71Wnt signaling pathway_Homo sapiens_hsa043101.04144053
72Glucagon signaling pathway_Homo sapiens_hsa049221.02789472
73Renal cell carcinoma_Homo sapiens_hsa052111.02524312
74Dorso-ventral axis formation_Homo sapiens_hsa043201.00517652
75Biosynthesis of amino acids_Homo sapiens_hsa012300.98820342
76Long-term potentiation_Homo sapiens_hsa047200.98635260
77Dilated cardiomyopathy_Homo sapiens_hsa054140.98454585
78Bile secretion_Homo sapiens_hsa049760.97425069
79Pentose phosphate pathway_Homo sapiens_hsa000300.96362827
80Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.96106017
81Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.94446864
82Propanoate metabolism_Homo sapiens_hsa006400.94017756
83AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.92757270
84Axon guidance_Homo sapiens_hsa043600.89050434
85Tight junction_Homo sapiens_hsa045300.85423977
86Fatty acid metabolism_Homo sapiens_hsa012120.85191843
87Type II diabetes mellitus_Homo sapiens_hsa049300.84966688
88Adipocytokine signaling pathway_Homo sapiens_hsa049200.84150749
892-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.84038769
90Hippo signaling pathway_Homo sapiens_hsa043900.83776897
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.82632049
92Gap junction_Homo sapiens_hsa045400.82456133
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82172407
94Prion diseases_Homo sapiens_hsa050200.81927885
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81900827
96Cholinergic synapse_Homo sapiens_hsa047250.81783546
97Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.81163476
98mRNA surveillance pathway_Homo sapiens_hsa030150.80508673
99Phospholipase D signaling pathway_Homo sapiens_hsa040720.79983665
100Metabolic pathways_Homo sapiens_hsa011000.79266617
101Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.77972169
102Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77650403
103Gastric acid secretion_Homo sapiens_hsa049710.77595907
104Insulin resistance_Homo sapiens_hsa049310.77127980
105Sulfur metabolism_Homo sapiens_hsa009200.76936152
106Pathways in cancer_Homo sapiens_hsa052000.76873798
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.75469684
108Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.75384505
109Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.74549384
110Estrogen signaling pathway_Homo sapiens_hsa049150.72926899
111Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.72703128
112Chronic myeloid leukemia_Homo sapiens_hsa052200.72615774
113Glutamatergic synapse_Homo sapiens_hsa047240.70872178
114Glutathione metabolism_Homo sapiens_hsa004800.70627359
115Arginine and proline metabolism_Homo sapiens_hsa003300.69879969
116N-Glycan biosynthesis_Homo sapiens_hsa005100.69636049
117Complement and coagulation cascades_Homo sapiens_hsa046100.69076450
118Oxytocin signaling pathway_Homo sapiens_hsa049210.68836965
119Insulin secretion_Homo sapiens_hsa049110.68502739
120Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.65325403
121Vibrio cholerae infection_Homo sapiens_hsa051100.64500505
122Tryptophan metabolism_Homo sapiens_hsa003800.63692939
123Dopaminergic synapse_Homo sapiens_hsa047280.63580357
124Cysteine and methionine metabolism_Homo sapiens_hsa002700.63131929
125PPAR signaling pathway_Homo sapiens_hsa033200.62973093
126Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.61953722
127Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61622258
128Rap1 signaling pathway_Homo sapiens_hsa040150.61013539
129Toxoplasmosis_Homo sapiens_hsa051450.60992601
130beta-Alanine metabolism_Homo sapiens_hsa004100.60725737
131Sulfur relay system_Homo sapiens_hsa041220.59662109
132Staphylococcus aureus infection_Homo sapiens_hsa051500.59643075
133Vitamin digestion and absorption_Homo sapiens_hsa049770.59558541
134Carbon metabolism_Homo sapiens_hsa012000.59521247
135Neurotrophin signaling pathway_Homo sapiens_hsa047220.58714776
136Cardiac muscle contraction_Homo sapiens_hsa042600.58623701
137cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56923740
138Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.56240787
139Renin secretion_Homo sapiens_hsa049240.55868130
140VEGF signaling pathway_Homo sapiens_hsa043700.55392336
141Starch and sucrose metabolism_Homo sapiens_hsa005000.54700134
142Butanoate metabolism_Homo sapiens_hsa006500.54499952
143Long-term depression_Homo sapiens_hsa047300.53782106
144Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.53636305
145Thyroid cancer_Homo sapiens_hsa052160.53034110
146ErbB signaling pathway_Homo sapiens_hsa040120.51176635
147alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50747282
148AMPK signaling pathway_Homo sapiens_hsa041520.49590895
149Oocyte meiosis_Homo sapiens_hsa041140.44577078
150Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44231412
151Drug metabolism - other enzymes_Homo sapiens_hsa009830.43201355
152Fat digestion and absorption_Homo sapiens_hsa049750.40373308
153Lysine degradation_Homo sapiens_hsa003100.36920315
154p53 signaling pathway_Homo sapiens_hsa041150.34188702
155Pentose and glucuronate interconversions_Homo sapiens_hsa000400.31844008
156Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29289400
157Tyrosine metabolism_Homo sapiens_hsa003500.28576673
158Peroxisome_Homo sapiens_hsa041460.25636001
159Linoleic acid metabolism_Homo sapiens_hsa005910.22413642
160Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.19800164
161Galactose metabolism_Homo sapiens_hsa000520.19212640
162Retinol metabolism_Homo sapiens_hsa008300.17903843
163Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.14570875
164Bladder cancer_Homo sapiens_hsa052190.12483259
165Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.11703831
166Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.11339758
167Epstein-Barr virus infection_Homo sapiens_hsa051690.09395233
168HTLV-I infection_Homo sapiens_hsa051660.08227675
169Collecting duct acid secretion_Homo sapiens_hsa049660.07446659
170Melanoma_Homo sapiens_hsa052180.06991285
171HIF-1 signaling pathway_Homo sapiens_hsa040660.06960443
172Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.06640761

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