CRYBB2

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





Description: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1retinal rod cell development (GO:0046548)9.66440845
2photoreceptor cell development (GO:0042461)9.54506062
3GMP metabolic process (GO:0046037)9.02858141
4detection of light stimulus involved in sensory perception (GO:0050962)8.92589350
5detection of light stimulus involved in visual perception (GO:0050908)8.92589350
6eye photoreceptor cell development (GO:0042462)8.79683449
7photoreceptor cell maintenance (GO:0045494)8.67740115
8phototransduction (GO:0007602)8.22078792
9phototransduction, visible light (GO:0007603)8.05753519
10detection of light stimulus (GO:0009583)7.82762353
11cytidine deamination (GO:0009972)7.77949195
12cytidine metabolic process (GO:0046087)7.77949195
13cytidine catabolic process (GO:0006216)7.77949195
14detection of visible light (GO:0009584)7.65634702
15retinal cone cell development (GO:0046549)7.50755347
16* visual perception (GO:0007601)7.38319214
17* sensory perception of light stimulus (GO:0050953)7.29297144
18DNA deamination (GO:0045006)7.00279836
19pyrimidine ribonucleoside catabolic process (GO:0046133)6.90583085
20protein-chromophore linkage (GO:0018298)6.57993195
21retina development in camera-type eye (GO:0060041)6.39126347
22photoreceptor cell differentiation (GO:0046530)6.34765872
23eye photoreceptor cell differentiation (GO:0001754)6.34765872
24lens development in camera-type eye (GO:0002088)6.22837655
25positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.03690031
26metallo-sulfur cluster assembly (GO:0031163)5.77900384
27iron-sulfur cluster assembly (GO:0016226)5.77900384
28detection of external stimulus (GO:0009581)5.59244746
29cellular response to light stimulus (GO:0071482)5.57832437
30protein-cofactor linkage (GO:0018065)5.51070437
31detection of abiotic stimulus (GO:0009582)5.46495551
32regulation of short-term neuronal synaptic plasticity (GO:0048172)5.33362046
33regulation of clathrin-mediated endocytosis (GO:2000369)5.29484805
34eosinophil chemotaxis (GO:0048245)5.20396561
35synaptic vesicle maturation (GO:0016188)5.19809338
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)5.07942939
37regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.97046551
38cornea development in camera-type eye (GO:0061303)4.93755560
39protein maturation by protein folding (GO:0022417)4.79333529
40eosinophil migration (GO:0072677)4.65291756
41cellular potassium ion homeostasis (GO:0030007)4.44905524
42piRNA metabolic process (GO:0034587)4.44427863
43negative regulation by host of viral transcription (GO:0043922)4.44265302
44sodium ion export (GO:0071436)4.41207393
45synaptic vesicle docking involved in exocytosis (GO:0016081)4.35134962
46purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)4.33837266
47potassium ion homeostasis (GO:0055075)4.32135082
48protein localization to synapse (GO:0035418)4.31856779
49vitamin A metabolic process (GO:0006776)4.11610403
50response to pheromone (GO:0019236)4.04998487
51mannosylation (GO:0097502)4.01573925
52protein complex biogenesis (GO:0070271)4.00253902
53retina layer formation (GO:0010842)3.97192811
54proteasome assembly (GO:0043248)3.96428565
55negative regulation of receptor-mediated endocytosis (GO:0048261)3.90183731
56glutamate secretion (GO:0014047)3.90081593
57positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.86109141
58regulation of lymphocyte chemotaxis (GO:1901623)3.85230536
59regulation of mitochondrial translation (GO:0070129)3.76994329
60positive regulation of guanylate cyclase activity (GO:0031284)3.74380238
61DNA methylation involved in gamete generation (GO:0043046)3.69186825
62GDP-mannose metabolic process (GO:0019673)3.66390885
63establishment of protein localization to mitochondrial membrane (GO:0090151)3.62328931
64transcription elongation from RNA polymerase III promoter (GO:0006385)3.61552714
65termination of RNA polymerase III transcription (GO:0006386)3.61552714
66negative regulation of calcium ion transport into cytosol (GO:0010523)3.59045438
67cellular response to radiation (GO:0071478)3.58379305
68* sensory perception (GO:0007600)3.53191356
69regulation of cGMP metabolic process (GO:0030823)3.52801963
70regulation of synaptic vesicle exocytosis (GO:2000300)3.51428432
71mitochondrial respiratory chain complex assembly (GO:0033108)3.44343995
72nonmotile primary cilium assembly (GO:0035058)3.44049399
73locomotory exploration behavior (GO:0035641)3.42920202
74positive regulation of vesicle fusion (GO:0031340)3.42552227
75mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.41495673
76regulation of voltage-gated calcium channel activity (GO:1901385)3.41023171
77sarcoplasmic reticulum calcium ion transport (GO:0070296)3.39898118
78pyrimidine nucleoside catabolic process (GO:0046135)3.39377005
79membrane hyperpolarization (GO:0060081)3.37465682
80regulation of guanylate cyclase activity (GO:0031282)3.33800954
81positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.33605044
82cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.33247241
83GPI anchor biosynthetic process (GO:0006506)3.32138632
84peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.29694147
85synaptic vesicle exocytosis (GO:0016079)3.29567643
86positive regulation of T cell chemotaxis (GO:0010820)3.15342753
87regulation of T cell chemotaxis (GO:0010819)3.15342753
88energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.14381790
89ATP hydrolysis coupled proton transport (GO:0015991)3.14381790
90purine deoxyribonucleotide metabolic process (GO:0009151)3.12698532
91lipoprotein transport (GO:0042953)3.12104123
92positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.11860996
93potassium ion import (GO:0010107)3.11343269
94protein peptidyl-prolyl isomerization (GO:0000413)3.10677252
95cellular response to electrical stimulus (GO:0071257)3.08843422
96protein polyglutamylation (GO:0018095)3.07796368
97cullin deneddylation (GO:0010388)3.07777178
98retina homeostasis (GO:0001895)3.07595172
99regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)3.06338683
100macrophage chemotaxis (GO:0048246)3.06096807
101adaptation of signaling pathway (GO:0023058)3.05836679
102positive regulation of interleukin-8 secretion (GO:2000484)3.05765738
103neuron development (GO:0048666)3.05366946
104GPI anchor metabolic process (GO:0006505)3.02231561
105response to light stimulus (GO:0009416)3.01453719
106prenylation (GO:0097354)3.01256882
107protein prenylation (GO:0018342)3.01256882
108neurotransmitter secretion (GO:0007269)3.01015762
109protein K6-linked ubiquitination (GO:0085020)3.00332900
110deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.98840348
111righting reflex (GO:0060013)2.97983133
112regulation of interleukin-12 biosynthetic process (GO:0045075)2.96278440
113layer formation in cerebral cortex (GO:0021819)2.96248772
114regulation of synaptic vesicle transport (GO:1902803)2.95695116
115protein deneddylation (GO:0000338)2.94270624
116CDP-diacylglycerol biosynthetic process (GO:0016024)2.94036283
117vocalization behavior (GO:0071625)2.93817154
118mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.93561264
119deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.92717009
120positive regulation of neurotransmitter transport (GO:0051590)2.91135870
121cell communication by electrical coupling (GO:0010644)2.90924382
122regulation of vesicle fusion (GO:0031338)2.90088681
123regulation of immunoglobulin secretion (GO:0051023)2.86722959
124positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.86409786
125energy coupled proton transport, down electrochemical gradient (GO:0015985)2.85028606
126ATP synthesis coupled proton transport (GO:0015986)2.85028606
127electron transport chain (GO:0022900)2.84495065
128lipid translocation (GO:0034204)2.84128519
129phospholipid translocation (GO:0045332)2.84128519
130positive regulation of natural killer cell mediated immunity (GO:0002717)2.82186564
131regulation of cellular amino acid metabolic process (GO:0006521)2.81339501
132DNA demethylation (GO:0080111)2.80189261
133cellular response to interleukin-15 (GO:0071350)2.79965436
134regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.79055575
135respiratory electron transport chain (GO:0022904)2.78585958
136retinoid metabolic process (GO:0001523)2.78206672
137protein neddylation (GO:0045116)2.77734874
138estrogen biosynthetic process (GO:0006703)2.77551708
139innervation (GO:0060384)2.76869926
140cytochrome complex assembly (GO:0017004)2.71773314
141lymphocyte chemotaxis (GO:0048247)2.71665269
142positive regulation of interleukin-1 secretion (GO:0050716)2.71451732
143neurotransmitter transport (GO:0006836)2.70792376
144cellular sodium ion homeostasis (GO:0006883)2.70700565
145lactate metabolic process (GO:0006089)2.70345311
146gamma-aminobutyric acid transport (GO:0015812)2.69878101
147positive regulation of sodium ion transmembrane transport (GO:1902307)2.68441605
148CDP-diacylglycerol metabolic process (GO:0046341)2.66806533
149positive regulation of lymphocyte apoptotic process (GO:0070230)2.66625872
150water-soluble vitamin biosynthetic process (GO:0042364)2.66146531
151positive regulation of interleukin-1 beta secretion (GO:0050718)2.65896230
152negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.64686481
153positive regulation of membrane potential (GO:0045838)2.64225489
154positive regulation of lymphocyte migration (GO:2000403)2.64010746
155preassembly of GPI anchor in ER membrane (GO:0016254)2.63417004
156dopamine receptor signaling pathway (GO:0007212)2.62945727
157diterpenoid metabolic process (GO:0016101)2.62745495
158L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.61828804
159L-amino acid import (GO:0043092)2.61413218
160respiratory chain complex IV assembly (GO:0008535)2.59866735
161positive regulation of neurotransmitter secretion (GO:0001956)2.58621042
162negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.58493423
163negative regulation of telomere maintenance (GO:0032205)2.57618435
164nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.56648350
165negative regulation of T-helper cell differentiation (GO:0045623)2.56324862
166negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.56324862
167single strand break repair (GO:0000012)2.56027313
168regulation of ARF protein signal transduction (GO:0032012)2.54494709
169response to redox state (GO:0051775)2.54417317
170tryptophan catabolic process (GO:0006569)2.54146809
171indole-containing compound catabolic process (GO:0042436)2.54146809
172indolalkylamine catabolic process (GO:0046218)2.54146809
173ubiquinone biosynthetic process (GO:0006744)2.53153170
174exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.51909456
175detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)2.51897409
176phospholipid transport (GO:0015914)2.51276613
177neurotransmitter-gated ion channel clustering (GO:0072578)2.50677686
178regulation of calcium ion-dependent exocytosis (GO:0017158)2.50520619
179DNA dealkylation (GO:0035510)2.49815040
180glycine transport (GO:0015816)2.49272258
181male meiosis (GO:0007140)2.49249833
182peptidyl-proline modification (GO:0018208)2.49111623
183startle response (GO:0001964)2.48284406
184membrane repolarization (GO:0086009)2.48211172
185negative regulation of heart rate (GO:0010459)2.48180539
186negative regulation of T cell receptor signaling pathway (GO:0050860)2.48165491
187cytolysis (GO:0019835)2.47618608
188regulation of postsynaptic membrane potential (GO:0060078)2.47379152
189signal transduction involved in cell cycle checkpoint (GO:0072395)2.46224136
190hydrogen ion transmembrane transport (GO:1902600)2.45899795
191monocyte chemotaxis (GO:0002548)2.45427567
192DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.44742668
193mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.44566269
194NADH dehydrogenase complex assembly (GO:0010257)2.44566269
195rhodopsin mediated signaling pathway (GO:0016056)13.0525141
196regulation of rhodopsin mediated signaling pathway (GO:0022400)12.9417493

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human6.59389074
2BP1_19119308_ChIP-ChIP_Hs578T_Human5.27410564
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.20282478
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.92363855
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.49871596
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.02642208
7CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.95658082
8ETS1_20019798_ChIP-Seq_JURKAT_Human2.90890899
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.84757350
10HTT_18923047_ChIP-ChIP_STHdh_Human2.59480509
11TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.58051046
12VDR_23849224_ChIP-Seq_CD4+_Human2.44645617
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.43524715
14PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.42714130
15SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.38053091
16DROSHA_22980978_ChIP-Seq_HELA_Human2.34480424
17CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse2.29399756
18RNF2_18974828_ChIP-Seq_MESCs_Mouse2.28854863
19EZH2_18974828_ChIP-Seq_MESCs_Mouse2.28854863
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.23596937
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.20589382
22EZH2_22144423_ChIP-Seq_EOC_Human2.14896113
23SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.14568064
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.12931321
25MTF2_20144788_ChIP-Seq_MESCs_Mouse2.09728604
26SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.09391356
27EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08436735
28KDM2B_26808549_Chip-Seq_K562_Human2.06931934
29RARB_27405468_Chip-Seq_BRAIN_Mouse2.04449662
30IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03915157
31TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.03496945
32SRF_21415370_ChIP-Seq_HL-1_Mouse1.96823578
33EZH2_27294783_Chip-Seq_ESCs_Mouse1.96144550
34SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.93461623
35GBX2_23144817_ChIP-Seq_PC3_Human1.92401041
36JARID2_20075857_ChIP-Seq_MESCs_Mouse1.91735248
37MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.89601440
38BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.88269873
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.86715593
40RNF2_27304074_Chip-Seq_ESCs_Mouse1.85264724
41ZNF274_21170338_ChIP-Seq_K562_Hela1.84303119
42RING1B_27294783_Chip-Seq_NPCs_Mouse1.82405942
43SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.82117134
44PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.80637975
45MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.76558962
46PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.76413531
47CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.76087850
48DCP1A_22483619_ChIP-Seq_HELA_Human1.74288693
49GABP_19822575_ChIP-Seq_HepG2_Human1.73856285
50REST_21632747_ChIP-Seq_MESCs_Mouse1.73742339
51REST_18959480_ChIP-ChIP_MESCs_Mouse1.72973389
52FOXP3_21729870_ChIP-Seq_TREG_Human1.72838840
53VDR_22108803_ChIP-Seq_LS180_Human1.72311804
54JARID2_20064375_ChIP-Seq_MESCs_Mouse1.72134682
55AR_21572438_ChIP-Seq_LNCaP_Human1.71217957
56ERG_21242973_ChIP-ChIP_JURKAT_Human1.69357801
57EZH2_27304074_Chip-Seq_ESCs_Mouse1.67120856
58CTCF_27219007_Chip-Seq_Bcells_Human1.66068769
59SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.65859153
60ELF1_17652178_ChIP-ChIP_JURKAT_Human1.65276493
61NOTCH1_21737748_ChIP-Seq_TLL_Human1.64676118
62GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.63471827
63LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.61118691
64SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.59394905
65CREB1_15753290_ChIP-ChIP_HEK293T_Human1.55901816
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.55331584
67YY1_21170310_ChIP-Seq_MESCs_Mouse1.54675216
68KDM2B_26808549_Chip-Seq_JURKAT_Human1.53375389
69MYC_18940864_ChIP-ChIP_HL60_Human1.50125337
70EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.50111509
71CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.48985833
72DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.45911731
73TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42898894
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.42458677
75ELF1_20517297_ChIP-Seq_JURKAT_Human1.40984997
76TCF4_18268006_ChIP-ChIP_LS174T_Human1.40574361
77KDM2B_26808549_Chip-Seq_SUP-B15_Human1.39065592
78TP53_22573176_ChIP-Seq_HFKS_Human1.38556954
79CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37315289
80KDM2B_26808549_Chip-Seq_DND41_Human1.36361495
81SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.35975236
82LXR_22292898_ChIP-Seq_THP-1_Human1.34224318
83THAP11_20581084_ChIP-Seq_MESCs_Mouse1.34142319
84TRIM28_21343339_ChIP-Seq_HEK293_Human1.32934884
85AR_19668381_ChIP-Seq_PC3_Human1.29702424
86STAT1_20625510_ChIP-Seq_HELA_Human1.29320270
87MYC_18358816_ChIP-ChIP_MESCs_Mouse1.29280396
88* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.28836928
89ZFP281_27345836_Chip-Seq_ESCs_Mouse1.28031335
90RING1B_27294783_Chip-Seq_ESCs_Mouse1.27139549
91ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.24893588
92CREB1_26743006_Chip-Seq_LNCaP_Human1.24095416
93SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23760925
94MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.23268532
95ELK1_19687146_ChIP-ChIP_HELA_Human1.23190926
96WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.22721936
97EED_16625203_ChIP-ChIP_MESCs_Mouse1.22384300
98WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22205294
99FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21970834
100EP300_21415370_ChIP-Seq_HL-1_Mouse1.21261922
101GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.19924778
102ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.17655925
103SMC4_20622854_ChIP-Seq_HELA_Human1.17199697
104E2F1_18555785_ChIP-Seq_MESCs_Mouse1.16867866
105IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.16719567
106THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.15955327
107FOXA1_25329375_ChIP-Seq_VCAP_Human1.15606917
108FOXA1_27270436_Chip-Seq_PROSTATE_Human1.15606917
109P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14195460
110DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14163959
111SMAD4_21799915_ChIP-Seq_A2780_Human1.13634543
112TTF2_22483619_ChIP-Seq_HELA_Human1.13425863
113IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.12831367
114TAF15_26573619_Chip-Seq_HEK293_Human1.12449229
115AR_20517297_ChIP-Seq_VCAP_Human1.12419624
116PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11122548
117CIITA_25753668_ChIP-Seq_RAJI_Human1.10537807
118P68_20966046_ChIP-Seq_HELA_Human1.10428333
119EGR1_19032775_ChIP-ChIP_M12_Human1.10183660
120KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.09599534
121FOXH1_21741376_ChIP-Seq_EPCs_Human1.09463768
122ISL1_27105846_Chip-Seq_CPCs_Mouse1.08916433
123DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.08277390
124ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.07376937
125CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.07333996
126ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.07233421
127BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.07109423
128ELK1_22589737_ChIP-Seq_MCF10A_Human1.06797478
129CTCF_20526341_ChIP-Seq_ESCs_Human1.06490002
130SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05943815
131SMAD3_21741376_ChIP-Seq_HESCs_Human1.05359768
132TFEB_21752829_ChIP-Seq_HELA_Human1.04859155
133TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03367074
134TBX3_20139965_ChIP-Seq_MESCs_Mouse1.03238480
135TBX3_20139965_ChIP-Seq_ESCs_Mouse1.02877884
136VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02513820
137PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02460781
138EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.02382275
139ZNF217_24962896_ChIP-Seq_MCF-7_Human1.02242616
140MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02234569
141YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02147547
142AHR_22903824_ChIP-Seq_MCF-7_Human1.02099674
143STAT4_19710469_ChIP-ChIP_TH1__Mouse1.01972944
144NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.01514618
145SOX2_21211035_ChIP-Seq_LN229_Gbm1.01195604
146FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00304429
147HOXB4_20404135_ChIP-ChIP_EML_Mouse1.00021828
148ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.99740550
149RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99294216
150ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.98734371
151MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.97676028
152FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97296375
153NR3C1_23031785_ChIP-Seq_PC12_Mouse0.96706568
154PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96646866
155STAT3_23295773_ChIP-Seq_U87_Human0.96425301
156RBPJ_21746931_ChIP-Seq_IB4_Human0.95921139
157NELFA_20434984_ChIP-Seq_ESCs_Mouse0.95105451
158SMAD4_21741376_ChIP-Seq_HESCs_Human0.94368840
159FOXH1_21741376_ChIP-Seq_ESCs_Human0.94071224
160RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.94066469
161KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.94043362
162SA1_27219007_Chip-Seq_Bcells_Human0.92690533
163STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.92498240
164NANOG_19829295_ChIP-Seq_ESCs_Human0.91997668
165SOX2_19829295_ChIP-Seq_ESCs_Human0.91997668
166RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.91647096
167NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91340171
168NCOR_22424771_ChIP-Seq_293T_Human0.91208674
169FOXA2_19822575_ChIP-Seq_HepG2_Human0.91026031
170CTBP2_25329375_ChIP-Seq_LNCAP_Human0.90511998
171EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.89008040
172TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.88780620
173ERA_21632823_ChIP-Seq_H3396_Human0.88602653
174FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.88536425
175MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.88297733
176TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.88264657
177HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.88233653
178GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.88087081
179BMI1_23680149_ChIP-Seq_NPCS_Mouse0.87957972
180OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87845166
181SMAD3_21741376_ChIP-Seq_ESCs_Human0.87823360
182TBL1_22424771_ChIP-Seq_293T_Human0.87371008
183CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.86534266
184ARNT_22903824_ChIP-Seq_MCF-7_Human0.86522697
185FOXA1_21572438_ChIP-Seq_LNCaP_Human0.86116301
186ZNF263_19887448_ChIP-Seq_K562_Human0.86064978
187P300_27058665_Chip-Seq_ZR-75-30cells_Human0.86003904
188ZFP57_27257070_Chip-Seq_ESCs_Mouse0.85888845
189* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85465882
190RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.85244343
191GATA6_21074721_ChIP-Seq_CACO-2_Human0.84790072
192E2F1_20622854_ChIP-Seq_HELA_Human0.84613994
193EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.84412958
194YY1_22570637_ChIP-Seq_MALME-3M_Human0.84243013
195KDM5A_27292631_Chip-Seq_BREAST_Human0.83741040
196MYC_19030024_ChIP-ChIP_MESCs_Mouse0.83565506

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005551_abnormal_eye_electrophysiolog7.90453545
2MP0005253_abnormal_eye_physiology5.90568717
3MP0006072_abnormal_retinal_apoptosis5.74892153
4MP0004147_increased_porphyrin_level4.04653620
5MP0006082_CNS_inflammation3.64543880
6MP0005195_abnormal_posterior_eye3.53622765
7MP0005423_abnormal_somatic_nervous3.53430711
8MP0001324_abnormal_eye_pigmentation3.49052997
9MP0005671_abnormal_response_to3.25897198
10MP0002090_abnormal_vision3.00506841
11MP0005391_vision/eye_phenotype2.89641696
12MP0001188_hyperpigmentation2.82477683
13MP0002229_neurodegeneration2.75335797
14MP0002638_abnormal_pupillary_reflex2.64264423
15MP0009785_altered_susceptibility_to2.62669382
16MP0008877_abnormal_DNA_methylation2.48825440
17MP0003950_abnormal_plasma_membrane2.42349945
18MP0002653_abnormal_ependyma_morphology2.41527896
19MP0006035_abnormal_mitochondrial_morpho2.31060064
20MP0002876_abnormal_thyroid_physiology2.22241074
21MP0008058_abnormal_DNA_repair2.21638873
22MP0005379_endocrine/exocrine_gland_phen2.18847703
23MP0003786_premature_aging2.11484752
24MP0002736_abnormal_nociception_after2.07893563
25MP0003011_delayed_dark_adaptation11.0619911
26MP0004270_analgesia1.98498087
27MP0008875_abnormal_xenobiotic_pharmacok1.95980475
28MP0009333_abnormal_splenocyte_physiolog1.95489510
29MP0004859_abnormal_synaptic_plasticity1.83952930
30MP0005377_hearing/vestibular/ear_phenot1.83743027
31MP0003878_abnormal_ear_physiology1.83743027
32MP0002837_dystrophic_cardiac_calcinosis1.82183294
33MP0002752_abnormal_somatic_nervous1.81303348
34MP0006036_abnormal_mitochondrial_physio1.80280804
35MP0001986_abnormal_taste_sensitivity1.77135632
36MP0005645_abnormal_hypothalamus_physiol1.75207893
37MP0003880_abnormal_central_pattern1.74829577
38MP0004019_abnormal_vitamin_homeostasis1.63097480
39MP0006276_abnormal_autonomic_nervous1.56461417
40MP0003806_abnormal_nucleotide_metabolis1.53120218
41MP0005332_abnormal_amino_acid1.52312148
42* MP0002882_abnormal_neuron_morphology1.51970472
43MP0000749_muscle_degeneration1.48473674
44MP0001502_abnormal_circadian_rhythm1.47905857
45MP0004885_abnormal_endolymph1.47309947
46MP0001905_abnormal_dopamine_level1.46913093
47MP0002163_abnormal_gland_morphology1.46387654
48MP0002751_abnormal_autonomic_nervous1.43161225
49MP0006292_abnormal_olfactory_placode1.40695526
50MP0002277_abnormal_respiratory_mucosa1.39817352
51MP0005636_abnormal_mineral_homeostasis1.39238484
52MP0003635_abnormal_synaptic_transmissio1.37319899
53MP0000372_irregular_coat_pigmentation1.35777857
54MP0001764_abnormal_homeostasis1.33057859
55MP0002148_abnormal_hypersensitivity_rea1.29695743
56MP0003186_abnormal_redox_activity1.27335963
57MP0009046_muscle_twitch1.25201648
58MP0001486_abnormal_startle_reflex1.19254948
59MP0005075_abnormal_melanosome_morpholog1.18957043
60MP0002272_abnormal_nervous_system1.17375455
61MP0002064_seizures1.16800175
62* MP0002697_abnormal_eye_size1.16696375
63MP0000639_abnormal_adrenal_gland1.16582102
64MP0003763_abnormal_thymus_physiology1.12911651
65MP0002102_abnormal_ear_morphology1.12556125
66MP0001661_extended_life_span1.11543950
67MP0005623_abnormal_meninges_morphology1.08825912
68MP0003195_calcinosis1.07957300
69MP0005387_immune_system_phenotype1.07744455
70MP0001790_abnormal_immune_system1.07744455
71* MP0005193_abnormal_anterior_eye1.06132942
72MP0008872_abnormal_physiological_respon1.03934458
73MP0005451_abnormal_body_composition1.03707536
74MP0002723_abnormal_immune_serum1.00258093
75MP0005197_abnormal_uvea_morphology0.98535661
76MP0003634_abnormal_glial_cell0.97103225
77MP0005257_abnormal_intraocular_pressure0.95833947
78MP0002734_abnormal_mechanical_nocicepti0.93972876
79MP0005394_taste/olfaction_phenotype0.91165736
80MP0005499_abnormal_olfactory_system0.91165736
81MP0009763_increased_sensitivity_to0.91112708
82MP0003705_abnormal_hypodermis_morpholog0.91064408
83MP0003787_abnormal_imprinting0.87214866
84MP0000358_abnormal_cell_content/0.86852420
85MP0009745_abnormal_behavioral_response0.86766210
86MP0004233_abnormal_muscle_weight0.86113013
87MP0002063_abnormal_learning/memory/cond0.85513331
88MP0004134_abnormal_chest_morphology0.85138675
89MP0000015_abnormal_ear_pigmentation0.84914316
90MP0008569_lethality_at_weaning0.84747693
91MP0000465_gastrointestinal_hemorrhage0.83019692
92MP0002420_abnormal_adaptive_immunity0.82279018
93MP0004381_abnormal_hair_follicle0.82050400
94MP0001819_abnormal_immune_cell0.81906750
95MP0003137_abnormal_impulse_conducting0.81782723
96MP0005584_abnormal_enzyme/coenzyme_acti0.81580034
97MP0002733_abnormal_thermal_nociception0.81560977
98MP0000685_abnormal_immune_system0.80960354
99MP0005248_abnormal_Harderian_gland0.80063969
100MP0002295_abnormal_pulmonary_circulatio0.79989479
101MP0002735_abnormal_chemical_nociception0.79685864
102MP0003866_abnormal_defecation0.78857731
103MP0005025_abnormal_response_to0.76090700
104MP0009643_abnormal_urine_homeostasis0.75196682
105MP0008873_increased_physiological_sensi0.74467701
106MP0005266_abnormal_metabolism0.74103587
107MP0005410_abnormal_fertilization0.73821070
108MP0005187_abnormal_penis_morphology0.73105689
109MP0001929_abnormal_gametogenesis0.72286143
110MP0009780_abnormal_chondrocyte_physiolo0.71854420
111MP0002332_abnormal_exercise_endurance0.71842053
112MP0001845_abnormal_inflammatory_respons0.71732932
113MP0001348_abnormal_lacrimal_gland0.70649011
114MP0002184_abnormal_innervation0.70563655
115MP0002693_abnormal_pancreas_physiology0.69214244
116MP0005310_abnormal_salivary_gland0.67623817
117MP0001800_abnormal_humoral_immune0.67558794
118MP0003329_amyloid_beta_deposits0.67500322
119MP0002269_muscular_atrophy0.67357505
120MP0005646_abnormal_pituitary_gland0.67342863
121MP0000778_abnormal_nervous_system0.66789008
122MP0001968_abnormal_touch/_nociception0.66551739
123MP0002067_abnormal_sensory_capabilities0.65903884
124MP0002127_abnormal_cardiovascular_syste0.65506749
125MP0008789_abnormal_olfactory_epithelium0.64948320
126MP0001984_abnormal_olfaction0.62717201
127MP0001286_abnormal_eye_development0.62467040
128MP0003633_abnormal_nervous_system0.59627912
129MP0004811_abnormal_neuron_physiology0.57526956
130MP0002572_abnormal_emotion/affect_behav0.54392158
131MP0004742_abnormal_vestibular_system0.53637263
132MP0002909_abnormal_adrenal_gland0.52703207
133MP0001177_atelectasis0.51664633
134MP0003632_abnormal_nervous_system0.51287892
135MP0003631_nervous_system_phenotype0.51136434
136MP0000955_abnormal_spinal_cord0.50126610
137MP0002066_abnormal_motor_capabilities/c0.48680199
138MP0001915_intracranial_hemorrhage0.47987158
139* MP0002152_abnormal_brain_morphology0.46344899
140MP0005386_behavior/neurological_phenoty0.45328030
141MP0004924_abnormal_behavior0.45328030
142MP0000920_abnormal_myelination0.45221366
143MP0004142_abnormal_muscle_tone0.44953170
144MP0008961_abnormal_basal_metabolism0.44552936
145MP0003283_abnormal_digestive_organ0.44542679
146MP0001501_abnormal_sleep_pattern0.43207556
147MP0004085_abnormal_heartbeat0.41645659
148MP0003690_abnormal_glial_cell0.38651600
149MP0002089_abnormal_postnatal_growth/wei0.38226441
150MP0004145_abnormal_muscle_electrophysio0.37610881
151MP0010368_abnormal_lymphatic_system0.37566184
152MP0001346_abnormal_lacrimal_gland0.36116891
153MP0000747_muscle_weakness0.36074481
154MP0004043_abnormal_pH_regulation0.36070645
155MP0000013_abnormal_adipose_tissue0.35860696
156MP0001963_abnormal_hearing_physiology0.35428411
157MP0005365_abnormal_bile_salt0.34731387
158MP0002557_abnormal_social/conspecific_i0.34608238
159MP0004130_abnormal_muscle_cell0.33944206
160MP0005360_urolithiasis0.33677032
161MP0002139_abnormal_hepatobiliary_system0.32093778
162MP0003252_abnormal_bile_duct0.31640942
163MP0004215_abnormal_myocardial_fiber0.31387592
164MP0001970_abnormal_pain_threshold0.30405754
165MP0000751_myopathy0.29465052
166MP0000604_amyloidosis0.29148382
167MP0005376_homeostasis/metabolism_phenot0.28969494
168MP0005595_abnormal_vascular_smooth0.27236861
169MP0002092_abnormal_eye_morphology0.27196964
170MP0002069_abnormal_eating/drinking_beha0.26887534
171MP0005620_abnormal_muscle_contractility0.26169508

Predicted human phenotypes

RankGene SetZ-score
1Central scotoma (HP:0000603)9.66915943
2Pendular nystagmus (HP:0012043)8.35520664
3Decreased central vision (HP:0007663)7.75588095
4Chorioretinal atrophy (HP:0000533)7.70946346
5Scotoma (HP:0000575)7.63454002
6Pigmentary retinal degeneration (HP:0001146)7.30742062
7Abolished electroretinogram (ERG) (HP:0000550)7.18044797
8Severe visual impairment (HP:0001141)6.69758641
9Attenuation of retinal blood vessels (HP:0007843)6.53298970
10Abnormality of macular pigmentation (HP:0008002)6.51925994
11Abnormal activity of mitochondrial respiratory chain (HP:0011922)5.92047907
12Decreased activity of mitochondrial respiratory chain (HP:0008972)5.92047907
13Macular degeneration (HP:0000608)5.69816959
14Increased corneal curvature (HP:0100692)5.62650788
15Keratoconus (HP:0000563)5.62650788
16Abnormal mitochondria in muscle tissue (HP:0008316)5.35352640
17Acute necrotizing encephalopathy (HP:0006965)5.24393777
18Posterior subcapsular cataract (HP:0007787)5.23732010
19Constricted visual fields (HP:0001133)4.99051171
20Type II diabetes mellitus (HP:0005978)4.82439039
21Cone-rod dystrophy (HP:0000548)4.75168467
22Photophobia (HP:0000613)4.54808969
23Decreased electroretinogram (ERG) amplitude (HP:0000654)4.51651353
24Progressive macrocephaly (HP:0004481)4.32839884
25Acute encephalopathy (HP:0006846)4.13788545
26Mitochondrial inheritance (HP:0001427)4.13284426
27Increased intramyocellular lipid droplets (HP:0012240)4.12127469
28Increased muscle lipid content (HP:0009058)3.87744083
29Choroideremia (HP:0001139)3.80268043
30Cerebral edema (HP:0002181)3.76841965
31Lipid accumulation in hepatocytes (HP:0006561)3.66938112
32Increased CSF lactate (HP:0002490)3.65015619
33Limb dystonia (HP:0002451)3.60475663
34Vitreoretinal degeneration (HP:0000655)3.53242348
35Dyschromatopsia (HP:0007641)3.52579574
36Retinitis pigmentosa (HP:0000510)3.46131025
37Type 2 muscle fiber atrophy (HP:0003554)3.37942364
38Progressive visual loss (HP:0000529)3.32033088
39Upper limb muscle weakness (HP:0003484)3.21251906
40Increased hepatocellular lipid droplets (HP:0006565)3.16128955
41Autoamputation (HP:0001218)3.13567698
42Lactic acidosis (HP:0003128)3.10304830
433-Methylglutaconic aciduria (HP:0003535)3.09159729
44Subcapsular cataract (HP:0000523)3.09144417
45Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.02831086
46Exercise intolerance (HP:0003546)2.95943654
47Hepatocellular necrosis (HP:0001404)2.93599715
48Nuclear cataract (HP:0100018)2.90339785
49Muscle fiber atrophy (HP:0100295)2.88522445
50Hepatic necrosis (HP:0002605)2.76701802
51Hypothermia (HP:0002045)2.68606836
52Increased serum lactate (HP:0002151)2.65948864
53Hypoalbuminemia (HP:0003073)2.50985736
54Abnormal albumin level (HP:0012116)2.50985736
55* Zonular cataract (HP:0010920)2.50245169
56Anhidrosis (HP:0000970)2.45857101
57Microvesicular hepatic steatosis (HP:0001414)2.44258010
58Amblyopia (HP:0000646)2.43582972
59Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.42822449
60Aplastic anemia (HP:0001915)2.40621512
61Sensory axonal neuropathy (HP:0003390)2.39648489
62Dysphonia (HP:0001618)2.39411121
63Methylmalonic aciduria (HP:0012120)2.37618231
64Short tibia (HP:0005736)2.35921243
65Methylmalonic acidemia (HP:0002912)2.35202838
66Renal Fanconi syndrome (HP:0001994)2.32046130
67Generalized aminoaciduria (HP:0002909)2.31876910
68Delayed CNS myelination (HP:0002188)2.29519555
69Abnormality of placental membranes (HP:0011409)2.25999689
70Amniotic constriction ring (HP:0009775)2.25999689
71Poor speech (HP:0002465)2.20279505
72X-linked dominant inheritance (HP:0001423)2.20268740
73Wide nasal bridge (HP:0000431)2.20095701
74Congenital sensorineural hearing impairment (HP:0008527)2.19746668
75Respiratory failure (HP:0002878)2.19112771
76Oligomenorrhea (HP:0000876)2.18357165
77Polar cataract (HP:0010696)2.14576702
78Abnormality of midbrain morphology (HP:0002418)2.13969217
79Molar tooth sign on MRI (HP:0002419)2.13969217
80Poor suck (HP:0002033)2.13784773
81Visual hallucinations (HP:0002367)2.13220501
82Abnormality of urine glucose concentration (HP:0011016)2.12796019
83Glycosuria (HP:0003076)2.12796019
84Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.09314707
85Abnormal protein N-linked glycosylation (HP:0012347)2.09314707
86Abnormal protein glycosylation (HP:0012346)2.09314707
87Abnormal glycosylation (HP:0012345)2.09314707
88Lethargy (HP:0001254)2.07717854
89Aplasia/Hypoplasia of the tibia (HP:0005772)2.06974454
90Type I transferrin isoform profile (HP:0003642)2.06788092
91Abnormality of the fovea (HP:0000493)2.05144069
92Aplasia/Hypoplasia of the fovea (HP:0008060)2.04727626
93Hypoplasia of the fovea (HP:0007750)2.04727626
94Testicular atrophy (HP:0000029)2.01731862
95Congenital stationary night blindness (HP:0007642)13.0944218
96Absent rod-and cone-mediated responses on ERG (HP:0007688)11.5113971
97Abnormal rod and cone electroretinograms (HP:0008323)10.8731732
98Bony spicule pigmentary retinopathy (HP:0007737)10.1088753
99Abnormality of aromatic amino acid family metabolism (HP:0004338)1.99631493
100Ketoacidosis (HP:0001993)1.98725215
101Retinal atrophy (HP:0001105)1.98400436
102Abnormality of T cell number (HP:0011839)1.98345332
103Atonic seizures (HP:0010819)1.98164344
104Aplasia/hypoplasia of the uterus (HP:0008684)1.97791885
105T lymphocytopenia (HP:0005403)1.97608125
106Ulnar claw (HP:0001178)1.96405321
107Abnormality of the labia minora (HP:0012880)1.96297530
108Dicarboxylic aciduria (HP:0003215)1.95416007
109Abnormality of dicarboxylic acid metabolism (HP:0010995)1.95416007
110Aplasia/Hypoplasia involving the musculature (HP:0001460)1.95208163
111IgG deficiency (HP:0004315)1.94160670
112Fibular aplasia (HP:0002990)1.92654747
113Palpitations (HP:0001962)1.90106370
114Leukodystrophy (HP:0002415)1.89893406
115Interstitial pulmonary disease (HP:0006530)1.88978712
116Optic disc pallor (HP:0000543)1.86929657
117Aplasia/Hypoplasia of the macula (HP:0008059)1.86341549
118Cerebral hypomyelination (HP:0006808)1.85846279
119Chronic diarrhea (HP:0002028)1.84189906
120Gastrointestinal infarctions (HP:0005244)1.82903549
121Abnormality of DNA repair (HP:0003254)1.82510677
122Emotional lability (HP:0000712)1.82439100
123Recurrent corneal erosions (HP:0000495)1.80942112
124Stomatitis (HP:0010280)1.80781070
125IgM deficiency (HP:0002850)1.77503180
126Fetal akinesia sequence (HP:0001989)1.76101173
127Aplasia/Hypoplasia affecting the retina (HP:0008061)1.74995422
128Severe combined immunodeficiency (HP:0004430)1.73948329
129CNS hypomyelination (HP:0003429)1.73694449
130Abnormality of T cells (HP:0002843)1.71744169
131Ragged-red muscle fibers (HP:0003200)1.69052980
132Long foot (HP:0001833)1.68910905
133Progressive microcephaly (HP:0000253)1.68512242
134Delayed gross motor development (HP:0002194)1.68393542
135Malignant hyperthermia (HP:0002047)1.67381355
136Bile duct proliferation (HP:0001408)1.65698506
137Abnormal biliary tract physiology (HP:0012439)1.65698506
138Abnormality of the lower motor neuron (HP:0002366)1.59313684
139Epileptic encephalopathy (HP:0200134)1.58699237
140True hermaphroditism (HP:0010459)1.50248893
141Supranuclear gaze palsy (HP:0000605)1.44020469
142Pancreatic fibrosis (HP:0100732)1.37839950
143* Corneal dystrophy (HP:0001131)1.33957891
144Optic atrophy (HP:0000648)1.29337175
145Cystic liver disease (HP:0006706)1.28421089
146Febrile seizures (HP:0002373)1.26501486
147Macroorchidism (HP:0000053)1.25204785
148Severe Myopia (HP:0011003)1.19871555
149Sclerocornea (HP:0000647)1.16916034
150Insomnia (HP:0100785)1.13656127
151Dysdiadochokinesis (HP:0002075)1.11715666
152Focal seizures (HP:0007359)1.06977307
153Progressive cerebellar ataxia (HP:0002073)1.05894514
154Depression (HP:0000716)1.05878578
155Furrowed tongue (HP:0000221)1.04812118
156Hypermetropia (HP:0000540)1.04610925
157Hemiplegia (HP:0002301)1.02711198
158Mask-like facies (HP:0000298)1.02576730
159Pancreatic cysts (HP:0001737)1.02428880
160Gait imbalance (HP:0002141)1.01550278
161Postural instability (HP:0002172)0.99243757
162Horizontal nystagmus (HP:0000666)0.98749443
163Hyporeflexia of lower limbs (HP:0002600)0.98152405
164Congenital primary aphakia (HP:0007707)0.97947739
165Aplasia/Hypoplasia of the tongue (HP:0010295)0.97748015
166Genetic anticipation (HP:0003743)0.95097490
167Prolonged QT interval (HP:0001657)0.94315879
168Congenital cataract (HP:0000519)0.92835101
169Retinal detachment (HP:0000541)0.92441404
170Myokymia (HP:0002411)0.91309830
171* Microcornea (HP:0000482)0.90127527
172Hypoventilation (HP:0002791)0.88567494
173Hand muscle atrophy (HP:0009130)0.87244787
174Focal motor seizures (HP:0011153)0.85756719
175Aplasia/Hypoplasia of the lens (HP:0008063)0.85543702
176Truncal ataxia (HP:0002078)0.85107382
177Mutism (HP:0002300)0.84731230
178Action tremor (HP:0002345)0.84562307
179Abnormality of the nasal septum (HP:0000419)0.84126765
180Rapidly progressive (HP:0003678)0.82658626
181Recurrent sinusitis (HP:0011108)0.81699693
182Aqueductal stenosis (HP:0002410)0.81604517
183Abnormality of the fingertips (HP:0001211)0.80168186
184Chorioretinal coloboma (HP:0000567)0.79807202
185Absence seizures (HP:0002121)0.78404033
186Distal upper limb amyotrophy (HP:0007149)0.77890927
187Upper limb amyotrophy (HP:0009129)0.77890927
188Muscle fiber splitting (HP:0003555)0.72792255
189Inappropriate behavior (HP:0000719)0.72758027
190Nephrogenic diabetes insipidus (HP:0009806)0.72557327
191Intention tremor (HP:0002080)0.72516717
192Excessive salivation (HP:0003781)0.72488108
193Drooling (HP:0002307)0.72488108

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK19.12526992
2MAP4K27.64256473
3MAP3K104.27604846
4MAP3K123.30356659
5TXK2.90556780
6LIMK12.85966940
7BUB12.78863416
8TRIM282.75620516
9ZAK2.63326912
10EIF2AK32.44613403
11STK162.38106946
12KDR2.37228174
13SIK22.34018629
14PAK62.26888925
15CAMK1G2.20604231
16PNCK2.10887673
17TESK22.02601603
18PINK11.98850540
19TESK11.96467020
20ADRBK21.83879966
21GRK51.77541688
22PIK3CA1.70911405
23CDK121.70126951
24SCYL21.68105967
25BCKDK1.58196920
26HIPK21.56433273
27SIK11.49895316
28PLK21.49563934
29MARK11.46921656
30MAP3K111.44512078
31PRKCH1.44408627
32MAP3K41.42296748
33PRKD31.41819920
34ERBB21.38680735
35ICK1.37618601
36PKN11.37477541
37TLK11.34675980
38RIPK11.34055358
39STK381.32395100
40MST41.31323398
41NTRK31.31266045
42PDK21.30204331
43IRAK21.28227717
44EIF2AK11.27623304
45CAMK1D1.27388919
46CAMKK11.25839872
47MINK11.25416303
48SGK11.19644256
49SRPK11.18323718
50NTRK21.16925570
51ITK1.13898137
52DYRK1B1.11844241
53MAP3K91.10600475
54NEK11.09172742
55WNK11.08333880
56TSSK61.06639392
57UHMK11.04928115
58BRD41.04395192
59VRK21.04268289
60SGK2231.04046435
61SGK4941.04046435
62BCR1.03827001
63ALK1.02588476
64CCNB11.01773811
65TIE11.01485624
66FRK1.00981935
67MYLK1.00975667
68PRKCB1.00146623
69CSNK1G30.99524840
70PRPF4B0.97774159
71CSNK1D0.96158684
72AKT30.95914707
73CDK50.94223590
74PRKCI0.92967682
75RPS6KA50.92786866
76MATK0.92190142
77NME20.91132494
78MAPK120.86901987
79DYRK1A0.86243135
80BMPR1B0.84967442
81MAPK130.84298313
82CDC42BPA0.82761777
83CSNK1G10.82750830
84FES0.82485647
85RPS6KA30.79714767
86MAP3K70.79520626
87PRKD20.77644281
88MAP3K50.76343135
89CSNK1G20.76253857
90SGK30.75440610
91PRKCQ0.74958410
92SGK20.73968631
93GRK70.73410878
94IKBKE0.72906496
95MAP2K40.71863185
96MAPK100.71365224
97MAP2K70.69609745
98MAP4K10.69533345
99PRKCE0.69141787
100STK110.68230701
101PRKG10.68130021
102OXSR10.67815414
103PLK30.66012937
104DAPK20.65690736
105STK390.65675117
106CAMK10.65427065
107PRKAA10.64873320
108WNK30.64644173
109PAK30.64638337
110DAPK10.64286355
111PRKCZ0.61153977
112ARAF0.60678552
113TBK10.60459464
114TAOK30.60221198
115PRKACG0.56912137
116PIM20.56698166
117NUAK10.56429241
118CAMK40.55660366
119NTRK10.55419222
120CSNK1A1L0.53610023
121GSK3B0.53213296
122WNK40.53143370
123ADRBK10.52517946
124OBSCN0.51084462
125MAPK70.51022400
126CASK0.50261937
127PKN20.49860810
128INSRR0.49228107
129CSNK1A10.49166950
130CDK150.47843542
131DDR20.47716049
132PRKAA20.46879221
133PRKD10.46191348
134FGFR20.46111453
135IKBKB0.45971241
136MAPK140.45958101
137PRKDC0.45851061
138CAMK2D0.45450260
139MAPK90.45386172
140ERBB30.45344177
141MAP3K20.45232151
142PRKCG0.45137737
143NEK20.45115762
144CSNK1E0.44816151
145STK38L0.44793953
146CAMK2G0.44665903
147CDK180.44232369
148FYN0.44088045
149MAPK80.43978427
150NME10.43627615
151MAP2K60.42673766
152CAMK2A0.41750246
153EPHA40.41659325
154ROCK10.41496688
155CDK10.40748948
156MARK20.39841624
157PAK10.39717134
158CDK11A0.39709822
159TNIK0.38473075
160SYK0.38160589
161IGF1R0.37936023
162PHKG20.37759734
163PHKG10.37759734
164CHUK0.37478547
165SRC0.37295694
166EIF2AK20.36755433
167* PRKCA0.34935771
168TTK0.33527385
169CAMK2B0.33383742
170LCK0.33102766
171TEC0.32169818
172BMPR20.31782014
173JAK30.31781374
174MST1R0.30754950
175PIK3CG0.30049008
176CDK70.29409134
177CSNK2A10.28692548
178PRKACA0.28123267

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.69926080
2Proteasome_Homo sapiens_hsa030503.51626529
3Nitrogen metabolism_Homo sapiens_hsa009103.28410148
4Protein export_Homo sapiens_hsa030603.16809186
5Parkinsons disease_Homo sapiens_hsa050122.78060657
6RNA polymerase_Homo sapiens_hsa030202.77923550
7Synaptic vesicle cycle_Homo sapiens_hsa047212.41205158
8Primary immunodeficiency_Homo sapiens_hsa053402.34355174
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.30904485
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.27760273
11Graft-versus-host disease_Homo sapiens_hsa053322.20629620
12Rheumatoid arthritis_Homo sapiens_hsa053232.14682307
13Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.09601640
14Collecting duct acid secretion_Homo sapiens_hsa049662.02209704
15Phototransduction_Homo sapiens_hsa0474412.9615131
16GABAergic synapse_Homo sapiens_hsa047271.92332704
17Alzheimers disease_Homo sapiens_hsa050101.79067282
18Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.76196909
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.73893272
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.60737113
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.60138311
22Sulfur metabolism_Homo sapiens_hsa009201.59072315
23Olfactory transduction_Homo sapiens_hsa047401.58892084
24Type I diabetes mellitus_Homo sapiens_hsa049401.57658566
25Huntingtons disease_Homo sapiens_hsa050161.51792059
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.44923213
27Circadian entrainment_Homo sapiens_hsa047131.41510170
28N-Glycan biosynthesis_Homo sapiens_hsa005101.40562613
29SNARE interactions in vesicular transport_Homo sapiens_hsa041301.37522511
30Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.37380482
31Glutamatergic synapse_Homo sapiens_hsa047241.35467035
32Peroxisome_Homo sapiens_hsa041461.26201114
33Cholinergic synapse_Homo sapiens_hsa047251.24341676
34Folate biosynthesis_Homo sapiens_hsa007901.24106730
35Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.23415208
36Insulin secretion_Homo sapiens_hsa049111.18345906
37Antigen processing and presentation_Homo sapiens_hsa046121.15774441
38Morphine addiction_Homo sapiens_hsa050321.13294395
39Purine metabolism_Homo sapiens_hsa002301.12237622
40Nicotine addiction_Homo sapiens_hsa050331.10482365
41RNA degradation_Homo sapiens_hsa030181.09868079
42Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.06310957
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.04022343
44Allograft rejection_Homo sapiens_hsa053301.03803186
45Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.02965155
46Salmonella infection_Homo sapiens_hsa051321.02256401
47Aldosterone synthesis and secretion_Homo sapiens_hsa049251.02141021
48Cysteine and methionine metabolism_Homo sapiens_hsa002701.01024454
49Basal transcription factors_Homo sapiens_hsa030221.00071513
50Dopaminergic synapse_Homo sapiens_hsa047280.99791642
51Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.99157433
52Pyruvate metabolism_Homo sapiens_hsa006200.99025392
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.98990408
54Autoimmune thyroid disease_Homo sapiens_hsa053200.98136150
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.98098715
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.94544249
57Salivary secretion_Homo sapiens_hsa049700.94425541
58Butanoate metabolism_Homo sapiens_hsa006500.94286900
59Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.93015786
60Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.90192612
61Arginine biosynthesis_Homo sapiens_hsa002200.88992391
62Bile secretion_Homo sapiens_hsa049760.87019861
63Renin secretion_Homo sapiens_hsa049240.84325219
64Propanoate metabolism_Homo sapiens_hsa006400.83065754
65ABC transporters_Homo sapiens_hsa020100.82956783
66Oxytocin signaling pathway_Homo sapiens_hsa049210.82215483
67Gastric acid secretion_Homo sapiens_hsa049710.80810455
68Linoleic acid metabolism_Homo sapiens_hsa005910.80031389
69Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79248397
70Dilated cardiomyopathy_Homo sapiens_hsa054140.78240712
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77464964
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.76693972
73cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76683960
74Cardiac muscle contraction_Homo sapiens_hsa042600.75635550
75Pyrimidine metabolism_Homo sapiens_hsa002400.75272852
76Metabolic pathways_Homo sapiens_hsa011000.75155680
77Long-term potentiation_Homo sapiens_hsa047200.74670795
78Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.74003748
79Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.73929409
80Retinol metabolism_Homo sapiens_hsa008300.72039538
81Circadian rhythm_Homo sapiens_hsa047100.71973705
82Serotonergic synapse_Homo sapiens_hsa047260.71692178
83Type II diabetes mellitus_Homo sapiens_hsa049300.66776670
84Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65711424
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64858483
86Hematopoietic cell lineage_Homo sapiens_hsa046400.64467667
87cAMP signaling pathway_Homo sapiens_hsa040240.64345858
88Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63623164
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63128203
90Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62567267
91Lysine degradation_Homo sapiens_hsa003100.62035551
92beta-Alanine metabolism_Homo sapiens_hsa004100.61900672
93Steroid biosynthesis_Homo sapiens_hsa001000.61024733
94Cocaine addiction_Homo sapiens_hsa050300.58214452
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57521712
96Nucleotide excision repair_Homo sapiens_hsa034200.57025188
97Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.56810700
98GnRH signaling pathway_Homo sapiens_hsa049120.56683972
99Selenocompound metabolism_Homo sapiens_hsa004500.56557157
100Amphetamine addiction_Homo sapiens_hsa050310.56235163
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.54939142
102Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.54778107
103Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.53363264
104Regulation of autophagy_Homo sapiens_hsa041400.53203956
105One carbon pool by folate_Homo sapiens_hsa006700.52289079
106Base excision repair_Homo sapiens_hsa034100.52094918
107Thyroid hormone synthesis_Homo sapiens_hsa049180.51379525
108Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.50108696
109Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49740424
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48850953
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47581845
112Legionellosis_Homo sapiens_hsa051340.47395320
113Oocyte meiosis_Homo sapiens_hsa041140.45763372
114Arginine and proline metabolism_Homo sapiens_hsa003300.45567417
115Shigellosis_Homo sapiens_hsa051310.44955178
116mTOR signaling pathway_Homo sapiens_hsa041500.44215814
117NF-kappa B signaling pathway_Homo sapiens_hsa040640.43416326
118alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.43292086
119Vascular smooth muscle contraction_Homo sapiens_hsa042700.43150712
120Glioma_Homo sapiens_hsa052140.42790565
121Central carbon metabolism in cancer_Homo sapiens_hsa052300.42077979
122Carbon metabolism_Homo sapiens_hsa012000.41174107
123Primary bile acid biosynthesis_Homo sapiens_hsa001200.40644458
124Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.40284901
125Inositol phosphate metabolism_Homo sapiens_hsa005620.39429704
126Ribosome_Homo sapiens_hsa030100.39012873
127RNA transport_Homo sapiens_hsa030130.38629008
128Melanogenesis_Homo sapiens_hsa049160.38038275
129Ether lipid metabolism_Homo sapiens_hsa005650.37252538
130Maturity onset diabetes of the young_Homo sapiens_hsa049500.36830508
131Tryptophan metabolism_Homo sapiens_hsa003800.36084315
132Pancreatic secretion_Homo sapiens_hsa049720.35711547
133Glucagon signaling pathway_Homo sapiens_hsa049220.34863005
134Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.34550250
135Axon guidance_Homo sapiens_hsa043600.33238730
136Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.33033877
137Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.33000125
138Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31885912
139Long-term depression_Homo sapiens_hsa047300.31568727
140Phospholipase D signaling pathway_Homo sapiens_hsa040720.31562303
141Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.31237965
142Gap junction_Homo sapiens_hsa045400.30353719
143Calcium signaling pathway_Homo sapiens_hsa040200.30243536
144Biosynthesis of amino acids_Homo sapiens_hsa012300.29862147
145Tight junction_Homo sapiens_hsa045300.29758347
146MAPK signaling pathway_Homo sapiens_hsa040100.29093194
147Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.28018921
148Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27939666
149Glycerolipid metabolism_Homo sapiens_hsa005610.27459945
150Estrogen signaling pathway_Homo sapiens_hsa049150.26687872
151Insulin resistance_Homo sapiens_hsa049310.25210733
152Fructose and mannose metabolism_Homo sapiens_hsa000510.24141755
153Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.23583291
154Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.23534841
155Taste transduction_Homo sapiens_hsa047420.22551326
156Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.22470255
157ErbB signaling pathway_Homo sapiens_hsa040120.21868069
158AMPK signaling pathway_Homo sapiens_hsa041520.21760679
159Vibrio cholerae infection_Homo sapiens_hsa051100.19777028
160Mineral absorption_Homo sapiens_hsa049780.19577656
161Fatty acid biosynthesis_Homo sapiens_hsa000610.19344937
162HIF-1 signaling pathway_Homo sapiens_hsa040660.19288882
163Ras signaling pathway_Homo sapiens_hsa040140.17980902
164Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.17934061
165Chemokine signaling pathway_Homo sapiens_hsa040620.17395486
166Drug metabolism - other enzymes_Homo sapiens_hsa009830.16813842
167Renal cell carcinoma_Homo sapiens_hsa052110.15554270
168Prion diseases_Homo sapiens_hsa050200.15450795
169Fatty acid elongation_Homo sapiens_hsa000620.15118892
170Adipocytokine signaling pathway_Homo sapiens_hsa049200.15018732
171PPAR signaling pathway_Homo sapiens_hsa033200.14955439
172Wnt signaling pathway_Homo sapiens_hsa043100.14784851
173Non-small cell lung cancer_Homo sapiens_hsa052230.14448661
174Fatty acid metabolism_Homo sapiens_hsa012120.14352883
1752-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.14315606
176Choline metabolism in cancer_Homo sapiens_hsa052310.14256789

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