CRYGD

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. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)9.01531924
2* sensory perception of light stimulus (GO:0050953)8.90666134
3camera-type eye development (GO:0043010)8.74250206
4cytolysis (GO:0019835)8.67325607
5histone H3-K9 demethylation (GO:0033169)8.08257319
6protein refolding (GO:0042026)8.01309136
7muscle cell cellular homeostasis (GO:0046716)8.01066379
8cellular response to osmotic stress (GO:0071470)7.23173225
9bile acid and bile salt transport (GO:0015721)7.20574382
10regulation of protein sumoylation (GO:0033233)7.13418239
11eye development (GO:0001654)7.05726251
12myofibril assembly (GO:0030239)6.52212547
13sensory organ development (GO:0007423)5.40193187
14ribosomal small subunit assembly (GO:0000028)5.37734260
15positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)5.29968416
16response to salt stress (GO:0009651)5.10235705
17insulin-like growth factor receptor signaling pathway (GO:0048009)4.91401536
18negative regulation of homotypic cell-cell adhesion (GO:0034111)4.90180695
19pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.77538031
20sarcomere organization (GO:0045214)4.74658073
21viral transcription (GO:0019083)4.74017749
22ribosomal small subunit biogenesis (GO:0042274)4.73068563
23deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.61318146
24translational termination (GO:0006415)4.58143405
25regulation of mitochondrial translation (GO:0070129)4.36354395
26maturation of SSU-rRNA (GO:0030490)4.26702708
27protein complex biogenesis (GO:0070271)4.22906459
28regulation of myoblast differentiation (GO:0045661)4.22665433
29translational elongation (GO:0006414)4.17254445
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.13246607
31mitochondrial respiratory chain complex I assembly (GO:0032981)4.13246607
32NADH dehydrogenase complex assembly (GO:0010257)4.13246607
33* sensory perception (GO:0007600)4.12868271
34aggressive behavior (GO:0002118)4.08303377
35pseudouridine synthesis (GO:0001522)4.02229186
36* lens development in camera-type eye (GO:0002088)35.0906829
37rRNA modification (GO:0000154)3.99368595
38mitochondrial respiratory chain complex assembly (GO:0033108)3.98526986
39mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.97644143
40protein homotrimerization (GO:0070207)3.96280904
41pyrimidine nucleotide catabolic process (GO:0006244)3.95485439
42SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.95375485
43establishment of protein localization to mitochondrial membrane (GO:0090151)3.92095705
44ribosomal large subunit biogenesis (GO:0042273)3.91141547
45positive regulation of dendritic spine morphogenesis (GO:0061003)3.90127702
46ATP synthesis coupled proton transport (GO:0015986)3.86837005
47energy coupled proton transport, down electrochemical gradient (GO:0015985)3.86837005
48chaperone-mediated protein transport (GO:0072321)3.85914808
49cotranslational protein targeting to membrane (GO:0006613)3.85900232
50nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.83568485
51exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.82184226
52cullin deneddylation (GO:0010388)3.80693222
53protein targeting to ER (GO:0045047)3.79915739
54deoxyribose phosphate catabolic process (GO:0046386)3.79486126
55lung epithelium development (GO:0060428)3.76644982
56DNA deamination (GO:0045006)3.76484084
57oxidative phosphorylation (GO:0006119)3.73949401
58tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.73872291
59RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.73872291
60pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.71834200
61deoxyribonucleotide catabolic process (GO:0009264)3.71521709
62chromatin remodeling at centromere (GO:0031055)3.61690506
63regulation of Rac protein signal transduction (GO:0035020)3.60976479
64protein localization to endoplasmic reticulum (GO:0070972)3.59767286
65establishment of protein localization to endoplasmic reticulum (GO:0072599)3.58463949
66somatic diversification of immune receptors via somatic mutation (GO:0002566)3.58444259
67somatic hypermutation of immunoglobulin genes (GO:0016446)3.58444259
68seminiferous tubule development (GO:0072520)3.57034787
69nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.56196648
70water transport (GO:0006833)3.53456110
71protein deneddylation (GO:0000338)3.52293422
72regulation of platelet aggregation (GO:0090330)3.49325039
73CENP-A containing nucleosome assembly (GO:0034080)3.47428808
74cellular protein complex disassembly (GO:0043624)3.44761966
75DNA strand elongation involved in DNA replication (GO:0006271)3.44694431
76translational initiation (GO:0006413)3.41865928
77deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.39980522
78purine nucleobase biosynthetic process (GO:0009113)3.38526862
79viral life cycle (GO:0019058)3.35943162
80ubiquinone biosynthetic process (GO:0006744)3.34687893
81nucleobase biosynthetic process (GO:0046112)3.34007589
82positive regulation of wound healing (GO:0090303)3.33790440
83GMP metabolic process (GO:0046037)3.33713071
84positive regulation of calcium ion transport into cytosol (GO:0010524)3.31089385
85regulation of skeletal muscle fiber development (GO:0048742)3.28543940
86DNA strand elongation (GO:0022616)3.28295587
87cellular component biogenesis (GO:0044085)3.27019189
88spliceosomal snRNP assembly (GO:0000387)3.26113908
89translation (GO:0006412)3.25881352
90protein targeting to mitochondrion (GO:0006626)3.24112753
91negative regulation of B cell apoptotic process (GO:0002903)3.22161224
92purine nucleotide salvage (GO:0032261)3.20776981
93ribonucleoprotein complex biogenesis (GO:0022613)3.19695956
94replication fork processing (GO:0031297)3.18755465
95telomere maintenance via semi-conservative replication (GO:0032201)3.18728411
96rRNA processing (GO:0006364)3.17635770
97rRNA methylation (GO:0031167)3.15274231
98base-excision repair, AP site formation (GO:0006285)3.15135160
99termination of RNA polymerase III transcription (GO:0006386)3.14782293
100transcription elongation from RNA polymerase III promoter (GO:0006385)3.14782293
101purine-containing compound salvage (GO:0043101)3.14375371
102intermediate filament cytoskeleton organization (GO:0045104)3.11426125
103purine deoxyribonucleotide catabolic process (GO:0009155)3.11296559
104rRNA metabolic process (GO:0016072)3.10707692
105translesion synthesis (GO:0019985)3.10227248
106mannosylation (GO:0097502)3.07331439
107GTP biosynthetic process (GO:0006183)3.06001710
108cellular response to calcium ion (GO:0071277)3.05760777
109protein complex disassembly (GO:0043241)3.04857894
110mitochondrial RNA metabolic process (GO:0000959)3.04393337
111maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.04330548
112fluid transport (GO:0042044)3.04147988
113pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.04118956
114mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.03987751
115viral mRNA export from host cell nucleus (GO:0046784)3.03515688
116respiratory electron transport chain (GO:0022904)3.03335307
117DNA replication checkpoint (GO:0000076)3.01675074
118ubiquinone metabolic process (GO:0006743)3.00249847
119lens fiber cell development (GO:0070307)28.3058527
120intermediate filament-based process (GO:0045103)2.99598265
121cytochrome complex assembly (GO:0017004)2.99194012
122nuclear-transcribed mRNA catabolic process (GO:0000956)2.99008434
123electron transport chain (GO:0022900)2.98038963
124peptidyl-histidine modification (GO:0018202)2.96952561
125histone exchange (GO:0043486)2.96840225
126establishment of protein localization to mitochondrion (GO:0072655)2.95885627
127maturation of 5.8S rRNA (GO:0000460)2.95369921
128branched-chain amino acid catabolic process (GO:0009083)2.94962653
129negative regulation of RNA splicing (GO:0033119)2.93652239
130deoxyribose phosphate metabolic process (GO:0019692)2.92120511
1312-deoxyribonucleotide metabolic process (GO:0009394)2.91981819
132aerobic respiration (GO:0009060)2.91145806
133macromolecular complex disassembly (GO:0032984)2.90464346
134histone lysine demethylation (GO:0070076)2.89249182
135quinone biosynthetic process (GO:1901663)2.88674109
136nucleotide salvage (GO:0043173)2.87975264
137response to activity (GO:0014823)2.82187075
138cerebellar granule cell differentiation (GO:0021707)2.80500783
139dopaminergic neuron differentiation (GO:0071542)2.78433404
140respiratory tube development (GO:0030323)2.76568510
141negative regulation of platelet activation (GO:0010544)2.73197179
142histone demethylation (GO:0016577)2.70161617
143lung-associated mesenchyme development (GO:0060484)2.69071565
144skeletal muscle organ development (GO:0060538)2.66001591
145epithelial cell development (GO:0002064)2.64558283
146activation of JUN kinase activity (GO:0007257)2.64366062
147mating behavior (GO:0007617)2.63620554
148L-alpha-amino acid transmembrane transport (GO:1902475)2.57295434
149negative regulation of cell size (GO:0045792)2.55386604
150actomyosin structure organization (GO:0031032)2.54131120
151regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.51721289
152regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.44203688
153regulation of myotube differentiation (GO:0010830)2.44068167
154protein dealkylation (GO:0008214)2.38488366
155protein demethylation (GO:0006482)2.38488366
156response to osmotic stress (GO:0006970)2.36968868
157diaphragm development (GO:0060539)2.35740566
158cell-cell junction assembly (GO:0007043)2.30799701
159basement membrane organization (GO:0071711)2.29677844
160prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.24608208
161positive regulation of dendritic spine development (GO:0060999)2.24186728
162collecting duct development (GO:0072044)2.20368033
163positive regulation of dendrite morphogenesis (GO:0050775)2.20356468
164protein localization to cell surface (GO:0034394)2.18033037
165regulation of homotypic cell-cell adhesion (GO:0034110)2.16794300
166neuronal stem cell maintenance (GO:0097150)2.15642725
167apoptotic process involved in morphogenesis (GO:0060561)2.10343972
168metanephric tubule development (GO:0072170)2.10250973
169metanephric nephron tubule development (GO:0072234)2.10250973
170dorsal/ventral axis specification (GO:0009950)2.10246591
171protein trimerization (GO:0070206)2.07916616
172apoptotic process involved in development (GO:1902742)2.07679446
173carnitine shuttle (GO:0006853)2.04896560
174negative regulation of potassium ion transmembrane transport (GO:1901380)2.03346319
175negative regulation of hormone metabolic process (GO:0032351)2.03116566
176negative regulation of hormone biosynthetic process (GO:0032353)2.03116566
177positive regulation of developmental growth (GO:0048639)2.01185095
178* lens fiber cell differentiation (GO:0070306)11.4319127
179lens morphogenesis in camera-type eye (GO:0002089)11.3863951
180response to muscle activity (GO:0014850)10.8028695
181cytoskeletal anchoring at plasma membrane (GO:0007016)1.98109257
182negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.94080610
183regulation of dendritic spine morphogenesis (GO:0061001)1.92500947
184cell maturation (GO:0048469)1.92212047
185cellular response to prostaglandin stimulus (GO:0071379)1.90892164
186metanephric nephron epithelium development (GO:0072243)1.90722157
187cellular response to vitamin D (GO:0071305)1.90522138
188negative regulation of JUN kinase activity (GO:0043508)1.87619147
189anatomical structure regression (GO:0060033)1.87219430
190bone trabecula formation (GO:0060346)1.82233574
191regulation of skeletal muscle tissue development (GO:0048641)1.79387975
192fatty acid transmembrane transport (GO:1902001)1.79380838
193planar cell polarity pathway involved in neural tube closure (GO:0090179)1.77415858
194phosphatidylinositol 3-kinase signaling (GO:0014065)1.76955583
195regulation of striated muscle cell differentiation (GO:0051153)1.75918488
196cartilage morphogenesis (GO:0060536)1.74562510
197regulation of calcium ion transport into cytosol (GO:0010522)1.74288597
198regulation of bile acid biosynthetic process (GO:0070857)1.72635757
199lung morphogenesis (GO:0060425)1.72163723
200regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.66986540

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.46610597
2E2F7_22180533_ChIP-Seq_HELA_Human5.46164488
3ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.22261280
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.58897339
5MYC_18555785_ChIP-Seq_MESCs_Mouse4.29572588
6CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.03569584
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.48464406
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.43237319
9IKZF1_21737484_ChIP-ChIP_HCT116_Human3.39242345
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.30481565
11ELF1_17652178_ChIP-ChIP_JURKAT_Human3.28672887
12EST1_17652178_ChIP-ChIP_JURKAT_Human3.28184781
13ETS1_20019798_ChIP-Seq_JURKAT_Human3.28083358
14PCGF2_27294783_Chip-Seq_NPCs_Mouse3.27729054
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.24325934
16EGR1_19032775_ChIP-ChIP_M12_Human3.12895244
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.04025216
18MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.02361970
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.91827874
20EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.90559634
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.76445088
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.69249180
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.60816617
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.56577122
25HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.56382448
26VDR_23849224_ChIP-Seq_CD4+_Human2.54520466
27FOXP3_21729870_ChIP-Seq_TREG_Human2.54248042
28SRF_21415370_ChIP-Seq_HL-1_Mouse2.53441770
29E2F4_17652178_ChIP-ChIP_JURKAT_Human2.42728467
30BP1_19119308_ChIP-ChIP_Hs578T_Human2.34839575
31MYC_19030024_ChIP-ChIP_MESCs_Mouse2.32007881
32MYC_19079543_ChIP-ChIP_MESCs_Mouse2.31142190
33XRN2_22483619_ChIP-Seq_HELA_Human2.15807940
34THAP11_20581084_ChIP-Seq_MESCs_Mouse2.15315989
35RBPJ_22232070_ChIP-Seq_NCS_Mouse2.13331989
36* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.07217427
37NANOG_16153702_ChIP-ChIP_HESCs_Human2.06630207
38TTF2_22483619_ChIP-Seq_HELA_Human2.06557482
39EZH2_22144423_ChIP-Seq_EOC_Human2.01729052
40BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse10.5226477
41EZH2_18974828_ChIP-Seq_MESCs_Mouse1.99391672
42RNF2_18974828_ChIP-Seq_MESCs_Mouse1.99391672
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.98093043
44EGR1_19374776_ChIP-ChIP_THP-1_Human1.97272026
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.92379417
46SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.89446188
47E2F1_18555785_ChIP-Seq_MESCs_Mouse1.89391417
48GABP_19822575_ChIP-Seq_HepG2_Human1.88720860
49ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.87930214
50ELK1_19687146_ChIP-ChIP_HELA_Human1.85530127
51JARID2_20064375_ChIP-Seq_MESCs_Mouse1.84806728
52FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.84446478
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.77047997
54GATA3_24758297_ChIP-Seq_MCF-7_Human1.71870876
55SUZ12_27294783_Chip-Seq_NPCs_Mouse1.70434063
56CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.70070584
57PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66294172
58EED_16625203_ChIP-ChIP_MESCs_Mouse1.65149586
59NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.64710267
60WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.64383885
61SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.64240788
62CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.63980350
63SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.62784788
64YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.59094244
65RNF2_27304074_Chip-Seq_ESCs_Mouse1.58077505
66DCP1A_22483619_ChIP-Seq_HELA_Human1.57773875
67YY1_21170310_ChIP-Seq_MESCs_Mouse1.54106321
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.53839351
69ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.53826793
70TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.53107486
71SOX2_22085726_ChIP-Seq_NPCs_Mouse1.51461546
72SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.50853003
73CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46522898
74ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.46474786
75TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46383924
76GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.46201276
77POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.43725984
78IGF1R_20145208_ChIP-Seq_DFB_Human1.41487122
79CBX2_27304074_Chip-Seq_ESCs_Mouse1.39991075
80FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.37369266
81EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.37178145
82KDM5A_27292631_Chip-Seq_BREAST_Human1.36289064
83MTF2_20144788_ChIP-Seq_MESCs_Mouse1.35502515
84CTCF_27219007_Chip-Seq_Bcells_Human1.35437111
85TBX3_20139965_ChIP-Seq_MESCs_Mouse1.35316711
86TBX3_20139965_ChIP-Seq_ESCs_Mouse1.34918621
87NELFA_20434984_ChIP-Seq_ESCs_Mouse1.34513245
88ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34063418
89ERG_20887958_ChIP-Seq_HPC-7_Mouse1.32995045
90CIITA_25753668_ChIP-Seq_RAJI_Human1.32454986
91GATA1_22025678_ChIP-Seq_K562_Human1.32353573
92* NFE2_27457419_Chip-Seq_LIVER_Mouse1.31286196
93JARID2_20075857_ChIP-Seq_MESCs_Mouse1.30757586
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.30703633
95JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29898241
96TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.28533419
97ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.28495032
98JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28292779
99EWS_26573619_Chip-Seq_HEK293_Human1.27398210
100TP53_20018659_ChIP-ChIP_R1E_Mouse1.26820065
101SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.24646776
102EZH2_27304074_Chip-Seq_ESCs_Mouse1.24475161
103MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.23842240
104POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.23738403
105EZH2_27294783_Chip-Seq_ESCs_Mouse1.23416892
106LXR_22292898_ChIP-Seq_THP-1_Human1.23162185
107TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.21960338
108FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.21079084
109SCL_19346495_ChIP-Seq_HPC-7_Human1.19573117
110FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.19515309
111SALL4_22934838_ChIP-ChIP_CD34+_Human1.17006453
112ZNF263_19887448_ChIP-Seq_K562_Human1.16932297
113RING1B_27294783_Chip-Seq_NPCs_Mouse1.16658500
114E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15382308
115LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.14342084
116PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.12952812
117EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.11911932
118TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.11540977
119SMC3_22415368_ChIP-Seq_MEFs_Mouse1.10801188
120SALL4_18804426_ChIP-ChIP_XEN_Mouse1.10543762
121TP63_17297297_ChIP-ChIP_HaCaT_Human1.10293490
122PADI4_21655091_ChIP-ChIP_MCF-7_Human1.09913034
123FOXA2_19822575_ChIP-Seq_HepG2_Human1.09586651
124VDR_22108803_ChIP-Seq_LS180_Human1.09251062
125* CTCF_18555785_Chip-Seq_ESCs_Mouse1.08200678
126CTCF_18555785_ChIP-Seq_MESCs_Mouse1.04783920
127RING1B_27294783_Chip-Seq_ESCs_Mouse1.04383729
128ELK3_25401928_ChIP-Seq_HUVEC_Human1.03928403
129FUS_26573619_Chip-Seq_HEK293_Human1.03677208
130* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.03013840
131* EZH2_27294783_Chip-Seq_NPCs_Mouse1.01945865
132IRF1_19129219_ChIP-ChIP_H3396_Human1.01758251
133SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.01032812
134CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.00953751
135* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.00708946
136SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00486375
137IRF8_22096565_ChIP-ChIP_GC-B_Human0.99598665
138ZFX_18555785_ChIP-Seq_MESCs_Mouse0.99257921
139GATA2_21666600_ChIP-Seq_HMVEC_Human0.99090762
140KDM2B_26808549_Chip-Seq_K562_Human0.98970497
141MYCN_18555785_ChIP-Seq_MESCs_Mouse0.98545382
142ZNF217_24962896_ChIP-Seq_MCF-7_Human0.98512975
143TP63_19390658_ChIP-ChIP_HaCaT_Human0.97171194
144PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.96260667
145SMAD3_21741376_ChIP-Seq_ESCs_Human0.95604908
146SALL1_21062744_ChIP-ChIP_HESCs_Human0.94362548
147CLOCK_20551151_ChIP-Seq_293T_Human0.94111040
148KDM2B_26808549_Chip-Seq_SUP-B15_Human0.92762509
149HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.92720844
150PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.92396988
151* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.92069656
152SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.91857333
153FOXP1_21924763_ChIP-Seq_HESCs_Human0.91760642
154NR3C1_23031785_ChIP-Seq_PC12_Mouse0.91390962
155MYC_18940864_ChIP-ChIP_HL60_Human0.90899984
156ZNF274_21170338_ChIP-Seq_K562_Hela0.90781771
157CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.90508911
158POU5F1_16153702_ChIP-ChIP_HESCs_Human0.90292049
159CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.89491148
160FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89148042
161SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.88716966
162OCT4_19829295_ChIP-Seq_ESCs_Human0.87994845
163ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86847578
164TP53_22573176_ChIP-Seq_HFKS_Human0.86614155
165TCF7_22412390_ChIP-Seq_EML_Mouse0.86129529
166SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.85755337
167SMC1_22415368_ChIP-Seq_MEFs_Mouse0.85680099
168CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85358687
169EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.85227800
170SUZ12_27294783_Chip-Seq_ESCs_Mouse0.85055393
171GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.84921408
172BCL6_27268052_Chip-Seq_Bcells_Human0.84564994
173CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.81770586
174* PU1_27457419_Chip-Seq_LIVER_Mouse0.81605827
175SOX2_16153702_ChIP-ChIP_HESCs_Human0.80912020
176TAF15_26573619_Chip-Seq_HEK293_Human0.79653754
177RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.78872042
178RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.78682009
179* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78628016
180PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.78184338
181KDM2B_26808549_Chip-Seq_JURKAT_Human0.78180753
182P53_22127205_ChIP-Seq_FIBROBLAST_Human0.77330603
183CTCF_21964334_Chip-Seq_Bcells_Human0.77144551
184KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.76914759
185ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.76706439
186SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.76251289
187CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.75618908
188YY1_22570637_ChIP-Seq_MALME-3M_Human0.73793474
189CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.73491744
190ELF1_20517297_ChIP-Seq_JURKAT_Human0.73262305
191MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.73246647
192RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.71840310
193KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.71269593
194PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.70470139
195CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.70205191
196SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.69812787

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye8.83649507
2MP0005253_abnormal_eye_physiology5.00466628
3MP0008058_abnormal_DNA_repair4.15980894
4MP0001286_abnormal_eye_development3.92577537
5MP0005197_abnormal_uvea_morphology3.80097890
6MP0003806_abnormal_nucleotide_metabolis3.75369335
7MP0000749_muscle_degeneration3.73214588
8MP0003693_abnormal_embryo_hatching3.40183898
9MP0003941_abnormal_skin_development3.36998056
10MP0010094_abnormal_chromosome_stability3.33584689
11MP0009697_abnormal_copulation2.91375151
12MP0003111_abnormal_nucleus_morphology2.79136489
13MP0003718_maternal_effect2.75359311
14* MP0002092_abnormal_eye_morphology2.66918552
15MP0006036_abnormal_mitochondrial_physio2.62405020
16* MP0005391_vision/eye_phenotype2.57253189
17MP0009379_abnormal_foot_pigmentation2.56433201
18MP0002090_abnormal_vision2.42420840
19MP0005646_abnormal_pituitary_gland2.42148357
20MP0001346_abnormal_lacrimal_gland2.20928983
21MP0004147_increased_porphyrin_level2.19523079
22MP0003186_abnormal_redox_activity2.15218006
23MP0002234_abnormal_pharynx_morphology2.07125043
24MP0002697_abnormal_eye_size14.4931113
25MP0000372_irregular_coat_pigmentation1.89779759
26MP0008877_abnormal_DNA_methylation1.85667704
27MP0004957_abnormal_blastocyst_morpholog1.78423936
28MP0001764_abnormal_homeostasis1.78400428
29MP0008872_abnormal_physiological_respon1.77986946
30MP0001529_abnormal_vocalization1.71138398
31MP0008007_abnormal_cellular_replicative1.69864332
32MP0003786_premature_aging1.69543188
33MP0002837_dystrophic_cardiac_calcinosis1.69122999
34MP0002108_abnormal_muscle_morphology1.68611559
35MP0002132_abnormal_respiratory_system1.66751091
36MP0002160_abnormal_reproductive_system1.62046928
37MP0004272_abnormal_basement_membrane1.60712264
38MP0006072_abnormal_retinal_apoptosis1.54911891
39MP0001545_abnormal_hematopoietic_system1.53834908
40MP0005397_hematopoietic_system_phenotyp1.53834908
41MP0004808_abnormal_hematopoietic_stem1.53829866
42MP0002396_abnormal_hematopoietic_system1.53665908
43MP0002269_muscular_atrophy1.53471305
44MP0006035_abnormal_mitochondrial_morpho1.53439761
45MP0005330_cardiomyopathy1.50926714
46MP0008932_abnormal_embryonic_tissue1.49220821
47MP0008875_abnormal_xenobiotic_pharmacok1.46809145
48MP0008995_early_reproductive_senescence1.43826406
49MP0002638_abnormal_pupillary_reflex1.43423887
50MP0003077_abnormal_cell_cycle1.41648550
51MP0010368_abnormal_lymphatic_system1.33190070
52MP0000678_abnormal_parathyroid_gland1.32047704
53MP0009765_abnormal_xenobiotic_induced1.30057271
54MP0002277_abnormal_respiratory_mucosa1.28985612
55MP0005670_abnormal_white_adipose1.23233985
56MP0005410_abnormal_fertilization1.19157984
57MP0001929_abnormal_gametogenesis1.18187481
58MP0005195_abnormal_posterior_eye1.17262716
59MP0005084_abnormal_gallbladder_morpholo1.17207869
60MP0002148_abnormal_hypersensitivity_rea1.16677032
61MP0008873_increased_physiological_sensi1.16056055
62MP0000631_abnormal_neuroendocrine_gland1.13540687
63MP0005389_reproductive_system_phenotype1.12031734
64MP0002139_abnormal_hepatobiliary_system1.11683629
65MP0003195_calcinosis1.11082673
66MP0000653_abnormal_sex_gland1.08179938
67MP0001299_abnormal_eye_distance/1.07112681
68MP0001145_abnormal_male_reproductive1.06661800
69MP0008789_abnormal_olfactory_epithelium1.06176349
70MP0003705_abnormal_hypodermis_morpholog1.04970509
71MP0002938_white_spotting1.04771658
72MP0004145_abnormal_muscle_electrophysio1.03882181
73MP0002210_abnormal_sex_determination1.03338594
74MP0005645_abnormal_hypothalamus_physiol1.01107124
75MP0002735_abnormal_chemical_nociception1.01029361
76MP0002019_abnormal_tumor_incidence0.99990095
77MP0003698_abnormal_male_reproductive0.97433633
78MP0008004_abnormal_stomach_pH0.95318657
79MP0004142_abnormal_muscle_tone0.94839920
80MP0003121_genomic_imprinting0.93843179
81MP0003567_abnormal_fetal_cardiomyocyte0.92741118
82MP0001293_anophthalmia0.91873532
83MP0001340_abnormal_eyelid_morphology0.90828412
84MP0000313_abnormal_cell_death0.88578394
85MP0003646_muscle_fatigue0.88151835
86MP0005075_abnormal_melanosome_morpholog0.88126496
87MP0005551_abnormal_eye_electrophysiolog0.86804198
88MP0008775_abnormal_heart_ventricle0.86196587
89MP0006276_abnormal_autonomic_nervous0.85458480
90MP0009046_muscle_twitch0.82408037
91MP0000358_abnormal_cell_content/0.81413392
92MP0009764_decreased_sensitivity_to0.80552794
93MP0005636_abnormal_mineral_homeostasis0.78618948
94MP0005319_abnormal_enzyme/_coenzyme0.77138924
95MP0005395_other_phenotype0.77003506
96MP0001188_hyperpigmentation0.76043038
97MP0004087_abnormal_muscle_fiber0.75851101
98MP0000681_abnormal_thyroid_gland0.74997230
99MP0003123_paternal_imprinting0.73847916
100MP0001119_abnormal_female_reproductive0.73014650
101MP0002111_abnormal_tail_morphology0.72529520
102MP0009278_abnormal_bone_marrow0.68477594
103MP0004859_abnormal_synaptic_plasticity0.68134072
104MP0005464_abnormal_platelet_physiology0.67598119
105MP0000049_abnormal_middle_ear0.67330073
106MP0005369_muscle_phenotype0.67118717
107MP0000350_abnormal_cell_proliferation0.66515321
108MP0005332_abnormal_amino_acid0.66424747
109MP0002282_abnormal_trachea_morphology0.65794108
110MP0000465_gastrointestinal_hemorrhage0.65389725
111MP0009053_abnormal_anal_canal0.64256682
112MP0006292_abnormal_olfactory_placode0.60852547
113MP0000759_abnormal_skeletal_muscle0.60817456
114MP0003315_abnormal_perineum_morphology0.60787051
115MP0005220_abnormal_exocrine_pancreas0.58929548
116MP0003252_abnormal_bile_duct0.58927727
117MP0001177_atelectasis0.57915491
118MP0001986_abnormal_taste_sensitivity0.57528983
119MP0002095_abnormal_skin_pigmentation0.57407528
120MP0001881_abnormal_mammary_gland0.56375394
121MP0000537_abnormal_urethra_morphology0.56002058
122MP0010307_abnormal_tumor_latency0.55729985
123MP0002161_abnormal_fertility/fecundity0.53775903
124MP0001905_abnormal_dopamine_level0.53243120
125MP0005187_abnormal_penis_morphology0.51350437
126MP0002653_abnormal_ependyma_morphology0.47469824
127MP0002734_abnormal_mechanical_nocicepti0.46557565
128MP0005085_abnormal_gallbladder_physiolo0.46435801
129MP0001915_intracranial_hemorrhage0.45490548
130MP0004885_abnormal_endolymph0.45463491
131MP0002249_abnormal_larynx_morphology0.43605278
132MP0002089_abnormal_postnatal_growth/wei0.43023906
133MP0009780_abnormal_chondrocyte_physiolo0.42805721
134MP0003566_abnormal_cell_adhesion0.42406245
135MP0002736_abnormal_nociception_after0.41954075
136MP0003787_abnormal_imprinting0.41930868
137MP0000747_muscle_weakness0.40480385
138MP0005360_urolithiasis0.39741330
139MP0005248_abnormal_Harderian_gland0.39698796
140MP0005257_abnormal_intraocular_pressure0.38707877
141MP0003635_abnormal_synaptic_transmissio0.38400826
142MP0003656_abnormal_erythrocyte_physiolo0.38368522
143MP0003942_abnormal_urinary_system0.37853460
144MP0003115_abnormal_respiratory_system0.37739250
145MP0003329_amyloid_beta_deposits0.37547107
146MP0000428_abnormal_craniofacial_morphol0.37440904
147MP0001968_abnormal_touch/_nociception0.36538199
148MP0000751_myopathy0.35456511
149MP0002177_abnormal_outer_ear0.34836153
150MP0001879_abnormal_lymphatic_vessel0.34305880
151MP0004197_abnormal_fetal_growth/weight/0.32591083
152MP0009250_abnormal_appendicular_skeleto0.32571851
153MP0001324_abnormal_eye_pigmentation0.31978572
154MP0004858_abnormal_nervous_system0.31449906
155MP0001943_abnormal_respiration0.30932867
156MP0002925_abnormal_cardiovascular_devel0.29281882
157MP0002063_abnormal_learning/memory/cond0.28500832
158MP0001958_emphysema0.28464006
159MP0004134_abnormal_chest_morphology0.28283175
160MP0004270_analgesia0.28114924
161MP0010234_abnormal_vibrissa_follicle0.27986397
162MP0004811_abnormal_neuron_physiology0.27799744
163MP0005623_abnormal_meninges_morphology0.26622905
164MP0000955_abnormal_spinal_cord0.26477974
165MP0005647_abnormal_sex_gland0.25442698
166MP0002733_abnormal_thermal_nociception0.24829790
167MP0002152_abnormal_brain_morphology0.24144157
168MP0002295_abnormal_pulmonary_circulatio0.24129539
169MP0008438_abnormal_cutaneous_collagen0.24107240
170MP0003959_abnormal_lean_body0.23273506
171MP0001784_abnormal_fluid_regulation0.22969215
172MP0003122_maternal_imprinting0.22579241
173MP0001614_abnormal_blood_vessel0.22303001
174MP0003119_abnormal_digestive_system0.21895566
175MP0002106_abnormal_muscle_physiology0.21187226
176MP0004084_abnormal_cardiac_muscle0.20912470
177MP0000266_abnormal_heart_morphology0.19394430
178MP0004233_abnormal_muscle_weight0.19076722
179MP0002163_abnormal_gland_morphology0.18374337
180MP0002128_abnormal_blood_circulation0.18161878
181MP0002064_seizures0.17879112
182MP0008770_decreased_survivor_rate0.17496174
183MP0002081_perinatal_lethality0.16891327
184MP0003861_abnormal_nervous_system0.15965435
185MP0009703_decreased_birth_body0.15663175
186MP0004185_abnormal_adipocyte_glucose0.14828517
187MP0002086_abnormal_extraembryonic_tissu0.14000030
188MP0000604_amyloidosis0.13944834

Predicted human phenotypes

RankGene SetZ-score
1Amblyopia (HP:0000646)7.05743636
2* Congenital cataract (HP:0000519)7.00887458
3* Corneal dystrophy (HP:0001131)6.18756535
4Anterior segment dysgenesis (HP:0007700)5.98904551
5Polar cataract (HP:0010696)4.42673380
6Acute necrotizing encephalopathy (HP:0006965)4.07425535
7Clumsiness (HP:0002312)3.98347162
8Abnormal mitochondria in muscle tissue (HP:0008316)3.98306983
9Mitochondrial inheritance (HP:0001427)3.96033768
10Hepatocellular necrosis (HP:0001404)3.85772152
11Acute encephalopathy (HP:0006846)3.82304509
12Hepatic necrosis (HP:0002605)3.70329263
13Increased CSF lactate (HP:0002490)3.65420064
14Decreased activity of mitochondrial respiratory chain (HP:0008972)3.64445810
15Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.64445810
16Aplastic anemia (HP:0001915)3.51059795
17Abnormal number of erythroid precursors (HP:0012131)3.47345778
183-Methylglutaconic aciduria (HP:0003535)3.37740858
19Lipid accumulation in hepatocytes (HP:0006561)3.33169047
20Progressive macrocephaly (HP:0004481)3.32113756
21Reticulocytopenia (HP:0001896)3.30947677
22Increased hepatocellular lipid droplets (HP:0006565)3.28025601
23Hyperglycinemia (HP:0002154)3.19097869
24* Microcornea (HP:0000482)3.15174001
25Increased intramyocellular lipid droplets (HP:0012240)3.14278748
26Abnormality of cells of the erythroid lineage (HP:0012130)3.13407051
27Type I transferrin isoform profile (HP:0003642)3.11010132
28Panhypogammaglobulinemia (HP:0003139)3.03580578
29Cerebral edema (HP:0002181)3.01868370
30Nuclear cataract (HP:0100018)27.7976768
31Zonular cataract (HP:0010920)24.6267581
32Increased muscle lipid content (HP:0009058)2.92842816
33Decreased electroretinogram (ERG) amplitude (HP:0000654)2.90273493
34Eosinophilia (HP:0001880)2.85628727
35Lactic acidosis (HP:0003128)2.81974675
36Increased serum lactate (HP:0002151)2.81026848
37Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.80373924
38Macrocytic anemia (HP:0001972)2.77994115
39Renal Fanconi syndrome (HP:0001994)2.71469895
40Renal cortical cysts (HP:0000803)2.66818198
41Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.58047732
42Abnormal protein N-linked glycosylation (HP:0012347)2.58047732
43Abnormal protein glycosylation (HP:0012346)2.58047732
44Abnormal glycosylation (HP:0012345)2.58047732
45Respiratory failure (HP:0002878)2.55933654
46Abnormality of the anterior chamber (HP:0000593)2.54368890
47Dicarboxylic aciduria (HP:0003215)2.51032038
48Abnormality of dicarboxylic acid metabolism (HP:0010995)2.51032038
49* Iris coloboma (HP:0000612)2.47188184
50Pancytopenia (HP:0001876)2.46263034
51True hermaphroditism (HP:0010459)2.44161626
52Opisthotonus (HP:0002179)2.43654182
53Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.43568498
54Abnormality of alanine metabolism (HP:0010916)2.43568498
55Hyperalaninemia (HP:0003348)2.43568498
56Abolished electroretinogram (ERG) (HP:0000550)2.41260846
57Absent rod-and cone-mediated responses on ERG (HP:0007688)2.40239146
58Decreased central vision (HP:0007663)2.39961804
59Pancreatic cysts (HP:0001737)2.39501368
60Meckel diverticulum (HP:0002245)2.36571623
61Triphalangeal thumb (HP:0001199)2.36221740
62Hyperglycinuria (HP:0003108)2.35046613
63Exercise intolerance (HP:0003546)2.34293159
64Cleft eyelid (HP:0000625)2.33561036
65Sclerocornea (HP:0000647)2.32641773
66Type 2 muscle fiber atrophy (HP:0003554)2.29071198
67Molar tooth sign on MRI (HP:0002419)2.28956287
68Abnormality of midbrain morphology (HP:0002418)2.28956287
69Thrombocytosis (HP:0001894)2.28207238
70Pancreatic fibrosis (HP:0100732)2.28097442
71Granulocytopenia (HP:0001913)2.27517630
72* Opacification of the corneal stroma (HP:0007759)2.27072330
73Birth length less than 3rd percentile (HP:0003561)2.25592346
74Colon cancer (HP:0003003)2.24996996
75Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.22385430
76Abnormality of the ileum (HP:0001549)2.21868041
77Pallor (HP:0000980)2.21668133
78Optic disc pallor (HP:0000543)2.21620120
79Lethargy (HP:0001254)2.19053204
80Chromsome breakage (HP:0040012)2.18499284
81Chromosomal breakage induced by crosslinking agents (HP:0003221)2.16899812
82Microvesicular hepatic steatosis (HP:0001414)2.16266897
83Muscle fiber atrophy (HP:0100295)2.14061929
84Exertional dyspnea (HP:0002875)2.11405960
85Scapular winging (HP:0003691)2.10829261
86Proximal amyotrophy (HP:0007126)2.10226692
87Progressive microcephaly (HP:0000253)2.09420832
88Aplasia/Hypoplasia of the uvula (HP:0010293)2.09174811
89Congenital primary aphakia (HP:0007707)2.08553550
90Abnormality of macular pigmentation (HP:0008002)2.07845969
91Methylmalonic aciduria (HP:0012120)2.07585675
92Dyschromatopsia (HP:0007641)2.07396578
93Abnormality of the preputium (HP:0100587)2.06468865
94Generalized aminoaciduria (HP:0002909)2.04595674
95Methylmalonic acidemia (HP:0002912)2.04453542
96Central scotoma (HP:0000603)2.03408993
97Abnormal rod and cone electroretinograms (HP:0008323)2.00965155
98Abnormality of serine family amino acid metabolism (HP:0010894)2.00222107
99Abnormality of glycine metabolism (HP:0010895)2.00222107
100Respiratory difficulties (HP:0002880)1.97941506
101Microretrognathia (HP:0000308)1.97906590
102Myokymia (HP:0002411)1.97442528
103Attenuation of retinal blood vessels (HP:0007843)1.94902801
104Abnormality of the heme biosynthetic pathway (HP:0010472)1.94425191
105Abnormality of eosinophils (HP:0001879)1.93944357
106Acute lymphatic leukemia (HP:0006721)1.92231974
107Posterior subcapsular cataract (HP:0007787)1.90905202
108Nephronophthisis (HP:0000090)1.90609047
109Agammaglobulinemia (HP:0004432)1.90336307
110Progressive muscle weakness (HP:0003323)1.88355447
111Impulsivity (HP:0100710)1.87621435
112Tubulointerstitial nephritis (HP:0001970)1.86660653
113Prostate neoplasm (HP:0100787)1.82986169
114CNS demyelination (HP:0007305)1.82808861
115Abnormality of the prostate (HP:0008775)1.82117685
116Abnormality of serum amino acid levels (HP:0003112)1.81559642
117Pendular nystagmus (HP:0012043)1.80586438
118Absent thumb (HP:0009777)1.80304806
119Hyperammonemia (HP:0001987)1.79415730
120Delayed CNS myelination (HP:0002188)1.78805390
121Aplasia/Hypoplasia of the lens (HP:0008063)1.78694762
122Neonatal respiratory distress (HP:0002643)1.64277248
123Aplasia/Hypoplasia of the macula (HP:0008059)1.63880113
124Fetal akinesia sequence (HP:0001989)1.56471966
125Aplasia/Hypoplasia affecting the retina (HP:0008061)1.55727091
126Popliteal pterygium (HP:0009756)1.49901276
127Aplasia of the musculature (HP:0100854)1.48752076
128Long clavicles (HP:0000890)1.48463954
129Amniotic constriction ring (HP:0009775)1.36165182
130Abnormality of placental membranes (HP:0011409)1.36165182
131Akinesia (HP:0002304)1.32309909
132Hypoplastic nipples (HP:0002557)1.31037645
133Difficulty walking (HP:0002355)1.29370261
134Abnormality of the shoulder girdle musculature (HP:0001435)1.27942443
135Leukocytosis (HP:0001974)1.26931651
136Rib fusion (HP:0000902)1.18298575
137Fused cervical vertebrae (HP:0002949)1.11404762
138Symphalangism affecting the phalanges of the hand (HP:0009773)1.05097033
139Vertebral clefting (HP:0008428)1.01960898
140Subcapsular cataract (HP:0000523)1.01619805
141Abnormality of the labia majora (HP:0012881)0.95949271
142Aplasia/Hypoplasia involving the musculature (HP:0001460)0.87085523
143Exostoses (HP:0100777)0.81286174
144Chorioretinal coloboma (HP:0000567)0.81069315
145Pterygium (HP:0001059)0.77224334
146Ependymoma (HP:0002888)0.74272729
147Lymphangioma (HP:0100764)0.73522795
148Severe visual impairment (HP:0001141)0.73317220
149Malignant hyperthermia (HP:0002047)0.72758689
150Camptodactyly of toe (HP:0001836)0.72295093
151Thin ribs (HP:0000883)0.70101437
152Neoplasm of the heart (HP:0100544)0.68545716
153Abnormal number of incisors (HP:0011064)0.67959999
154Hypoplastic heart (HP:0001961)0.67752697
155Aplasia/Hypoplasia of the nipples (HP:0006709)0.59355370
156Diminished movement (HP:0002374)0.57078705
157Cystic hygroma (HP:0000476)0.56985171
158Dislocated radial head (HP:0003083)0.56659725
159Abnormality of the astrocytes (HP:0100707)0.54713255
160Astrocytoma (HP:0009592)0.54713255
161Hepatoblastoma (HP:0002884)0.54375816
162Abnormality of the humeroradial joint (HP:0100744)0.53857940
163Muscle fiber splitting (HP:0003555)0.52910814
164Pointed chin (HP:0000307)0.52631263
165Split foot (HP:0001839)0.52332850
166Abnormality of the radial head (HP:0003995)0.52298547
167Enlarged kidneys (HP:0000105)0.51747226
168Annular pancreas (HP:0001734)0.49271393
169Flexion contracture of toe (HP:0005830)0.48960195
170Joint contractures involving the joints of the feet (HP:0100492)0.48960195
171Hypoplastic pelvis (HP:0008839)0.48924017
172Visceral angiomatosis (HP:0100761)0.48852974
173Hamartoma of the eye (HP:0010568)0.47532816
174Hyporeflexia of lower limbs (HP:0002600)0.47505988
175Patellar aplasia (HP:0006443)0.47049791
176Skin nodule (HP:0200036)0.46863417
177Broad nasal tip (HP:0000455)0.46401099
178* Autosomal dominant inheritance (HP:0000006)0.46081122
179Abnormality of cochlea (HP:0000375)0.45783467
180Hemiplegia (HP:0002301)0.44744746
181Hemangiomatosis (HP:0007461)0.44270871
182Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.43989956
183Buphthalmos (HP:0000557)0.43564408
184Abnormality of the labia (HP:0000058)0.43396712
185Neonatal hypoglycemia (HP:0001998)0.43012923
186Aplasia/Hypoplasia of the patella (HP:0006498)0.41252552
187Angiofibromas (HP:0010615)0.40481772
188Adenoma sebaceum (HP:0009720)0.40481772
189Hypopigmentation of the fundus (HP:0007894)0.40324723
190Exercise-induced muscle cramps (HP:0003710)0.39868098
191Abnormal pancreas size (HP:0012094)0.38774552
192Deep venous thrombosis (HP:0002625)0.38672963
193Humeroradial synostosis (HP:0003041)0.38301705
194Synostosis involving the elbow (HP:0003938)0.38301705
195Exercise-induced myalgia (HP:0003738)0.38266613
196Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.36906003
197Abnormalities of placenta or umbilical cord (HP:0001194)0.36542811
198Vertebral fusion (HP:0002948)0.36094652
199Hyperthyroidism (HP:0000836)0.36085779
200Overgrowth (HP:0001548)0.35494246

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.38056923
2BCKDK5.42662083
3BLK4.89343160
4SGK14.23250149
5NME23.89731986
6NUAK13.76078624
7VRK23.67855555
8STK393.07270003
9CDC73.06086256
10ZAK3.03740313
11WNK42.93200185
12NTRK12.84151966
13MST42.78142652
14FLT32.71262886
15PRKG12.60358298
16SRPK12.57008413
17BUB12.56186491
18STK162.44404041
19PLK42.43689306
20SIK12.36536983
21PKN22.27804234
22MAP4K22.25526511
23TRIB32.12402983
24VRK11.92031250
25TAOK31.88121889
26MET1.76431650
27PDGFRA1.75733813
28TESK21.70898699
29IGF1R1.70450363
30KDR1.65862531
31PRKCB1.65192282
32LRRK21.64739215
33MAPK101.52608417
34PBK1.51189782
35INSR1.49716664
36TIE11.47874077
37PNCK1.46783226
38INSRR1.38320606
39EPHB21.34835879
40BMPR1B1.33648939
41KIT1.31879016
42MAP3K101.28703912
43ICK1.27911527
44TLK11.27313206
45RPS6KA51.25129255
46RPS6KA41.23029180
47ERBB21.21778591
48ZAP701.21668779
49PRKACB1.20439942
50TAF11.19785751
51WNK11.19075652
52TEC1.18155872
53CDK61.16753164
54STK101.14794099
55ATR1.13246371
56FES1.12194669
57PAK41.08742502
58EPHA41.08635085
59RPS6KA31.06833894
60PTK61.06189012
61PIM21.05922812
62CCNB11.04521751
63MAPK131.02300921
64WNK31.01486032
65PLK11.01364815
66PLK31.00651357
67CDK30.99706880
68TNK20.96767237
69ADRBK20.95678591
70MAP3K110.93365846
71SCYL20.93102377
72TSSK60.92681418
73CDK190.91198058
74ABL20.90772778
75ROCK20.85001265
76IRAK10.84636321
77PTK20.84632202
78PAK60.83915001
79CHEK20.83752575
80PRKCQ0.82897699
81GRK10.80466205
82ERN10.79205271
83CSF1R0.78239121
84PKN10.77966586
85PRKACG0.76699107
86STK40.75064598
87DAPK10.74370392
88CAMKK10.73322236
89PHKG10.72491981
90PHKG20.72491981
91MAP2K30.70570763
92EPHA20.69606281
93RPS6KB20.68696893
94ILK0.68582974
95NME10.68479931
96CDK80.68457182
97AURKB0.68222845
98CSNK1G30.67548806
99PAK30.67407119
100TTK0.67040121
101CDK70.66447683
102SGK2230.66088071
103SGK4940.66088071
104WEE10.64741927
105CAMK1G0.64507275
106LATS20.64216316
107LATS10.63989579
108PINK10.63324705
109AURKA0.61485903
110EIF2AK10.61205387
111FRK0.60790121
112CSNK2A10.58287572
113IKBKB0.55290836
114ROCK10.55106960
115CSNK1G10.54567048
116ATM0.54352575
117TGFBR10.54276979
118NEK20.54096227
119SYK0.52114219
120FGFR10.50587159
121MINK10.50435307
122CSNK2A20.49586116
123UHMK10.49565283
124RPS6KA20.49519293
125MAP4K10.47779228
126MAPKAPK50.44453914
127CSNK1G20.44417000
128MAP3K60.44215122
129ALK0.43437099
130PIM10.42644697
131DAPK20.42622624
132PRKG20.40995121
133CSNK1A10.40556262
134BRSK20.39902625
135CDK50.39666557
136EGFR0.38064583
137ADRBK10.37775650
138CHEK10.37549794
139BTK0.36546105
140HIPK20.35509733
141CDK120.35011947
142RPS6KA10.34545784
143CAMK2G0.33984882
144CDK20.33241489
145PAK20.32823716
146ITK0.31838620
147PDGFRB0.31686175
148CSNK1E0.31603041
149TBK10.31351955
150PRKCH0.31259597
151CLK10.30989130
152GRK50.30950209
153CAMK10.30766193
154MAP2K40.30500287
155NTRK30.29793047
156PTK2B0.28080583
157MAPK40.27109078
158FER0.27061466
159MKNK10.26947167
160MAP3K80.26838361
161GRK60.26641367
162KSR10.26609243
163EIF2AK20.26474422
164RPS6KL10.25899853
165RPS6KC10.25899853
166MAPKAPK30.25471398
167BMX0.24142286
168TTN0.24133797
169MARK10.23662817
170CDK140.22579387
171NEK90.22482031
172AKT20.22289792
173PRKCA0.21807750
174IRAK20.21613128
175FGR0.20772372
176DYRK20.20096678
177MAPKAPK20.19917365
178CDK40.19868645
179FYN0.19721068
180JAK30.19383039
181NEK10.19079818
182MAP3K90.18751275
183KSR20.17255582
184PRKACA0.16164487
185CDK10.15877067
186CDK150.15808018
187CSNK1A1L0.15356052
188SRC0.14975080

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.54899958
2DNA replication_Homo sapiens_hsa030303.81325615
3Homologous recombination_Homo sapiens_hsa034403.11661046
4Mismatch repair_Homo sapiens_hsa034302.97270925
5Base excision repair_Homo sapiens_hsa034102.80537920
6Oxidative phosphorylation_Homo sapiens_hsa001902.78737631
7RNA polymerase_Homo sapiens_hsa030202.72136538
8Parkinsons disease_Homo sapiens_hsa050122.67251430
9One carbon pool by folate_Homo sapiens_hsa006702.64125320
10Small cell lung cancer_Homo sapiens_hsa052222.46351932
11Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.41718328
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.39931441
13Fanconi anemia pathway_Homo sapiens_hsa034602.37373719
14Proteasome_Homo sapiens_hsa030502.35026856
15Nitrogen metabolism_Homo sapiens_hsa009102.32736806
16Spliceosome_Homo sapiens_hsa030402.19950838
17Pyrimidine metabolism_Homo sapiens_hsa002402.17192332
18Hedgehog signaling pathway_Homo sapiens_hsa043402.09645101
19Non-homologous end-joining_Homo sapiens_hsa034502.07156521
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.02606268
21Central carbon metabolism in cancer_Homo sapiens_hsa052302.01523069
22Basal cell carcinoma_Homo sapiens_hsa052171.97525474
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.97206891
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.88067909
25Primary bile acid biosynthesis_Homo sapiens_hsa001201.84607298
26Nucleotide excision repair_Homo sapiens_hsa034201.83099328
27Adherens junction_Homo sapiens_hsa045201.81165643
28Fatty acid elongation_Homo sapiens_hsa000621.79320751
29Huntingtons disease_Homo sapiens_hsa050161.78154680
30mTOR signaling pathway_Homo sapiens_hsa041501.70195877
31Melanogenesis_Homo sapiens_hsa049161.63936656
32Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.62985357
33RNA degradation_Homo sapiens_hsa030181.61317566
34Arginine biosynthesis_Homo sapiens_hsa002201.59825577
35Purine metabolism_Homo sapiens_hsa002301.58736502
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.57094009
37RNA transport_Homo sapiens_hsa030131.50967111
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.50951827
39Propanoate metabolism_Homo sapiens_hsa006401.44873239
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.44760555
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.44331378
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43323512
43Protein export_Homo sapiens_hsa030601.39988372
44Alzheimers disease_Homo sapiens_hsa050101.39512750
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39320220
46Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.37501508
47Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29719907
48ECM-receptor interaction_Homo sapiens_hsa045121.29506586
49Proteoglycans in cancer_Homo sapiens_hsa052051.28200694
50Circadian entrainment_Homo sapiens_hsa047131.26903926
51Synaptic vesicle cycle_Homo sapiens_hsa047211.26864245
52Insulin signaling pathway_Homo sapiens_hsa049101.25871964
53GABAergic synapse_Homo sapiens_hsa047271.25136837
54Wnt signaling pathway_Homo sapiens_hsa043101.23934410
55Biosynthesis of amino acids_Homo sapiens_hsa012301.23441872
56Glioma_Homo sapiens_hsa052141.21483259
57Olfactory transduction_Homo sapiens_hsa047401.19493988
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.17603452
59Amoebiasis_Homo sapiens_hsa051461.17314288
60Bile secretion_Homo sapiens_hsa049761.15734732
61Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.15556998
62Fatty acid degradation_Homo sapiens_hsa000711.13537977
63Peroxisome_Homo sapiens_hsa041461.12666947
64Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.10967802
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.08770215
66Glucagon signaling pathway_Homo sapiens_hsa049221.07850506
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.07259545
68Dorso-ventral axis formation_Homo sapiens_hsa043201.06152902
69Long-term potentiation_Homo sapiens_hsa047201.05442609
70Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04635801
71Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.03111526
72Hippo signaling pathway_Homo sapiens_hsa043901.02769488
73Sulfur relay system_Homo sapiens_hsa041221.01840937
74Tight junction_Homo sapiens_hsa045301.00870940
75Protein digestion and absorption_Homo sapiens_hsa049741.00100804
76Basal transcription factors_Homo sapiens_hsa030220.99899331
77Cysteine and methionine metabolism_Homo sapiens_hsa002700.99363219
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.98004831
79Focal adhesion_Homo sapiens_hsa045100.96082321
80Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.94407714
81alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.94155599
82Axon guidance_Homo sapiens_hsa043600.93965371
832-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.93810535
84Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.93482185
85Linoleic acid metabolism_Homo sapiens_hsa005910.90422225
86Folate biosynthesis_Homo sapiens_hsa007900.88687900
87Asthma_Homo sapiens_hsa053100.88231075
88Metabolic pathways_Homo sapiens_hsa011000.88016275
89Pyruvate metabolism_Homo sapiens_hsa006200.87997972
90Renal cell carcinoma_Homo sapiens_hsa052110.87806077
91Adipocytokine signaling pathway_Homo sapiens_hsa049200.87741579
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.87341806
93Arachidonic acid metabolism_Homo sapiens_hsa005900.86796226
94Gap junction_Homo sapiens_hsa045400.86313333
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.86237401
96Phototransduction_Homo sapiens_hsa047440.85939590
97Pathways in cancer_Homo sapiens_hsa052000.84530938
98Type II diabetes mellitus_Homo sapiens_hsa049300.83326447
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.83187061
100Arginine and proline metabolism_Homo sapiens_hsa003300.81516989
101AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80840642
102Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.78569460
103Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.77408144
104Cholinergic synapse_Homo sapiens_hsa047250.76280184
105Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76015301
106Glutamatergic synapse_Homo sapiens_hsa047240.75903317
107Sulfur metabolism_Homo sapiens_hsa009200.75898578
108Fatty acid metabolism_Homo sapiens_hsa012120.75724955
109Cell cycle_Homo sapiens_hsa041100.75293196
110Insulin resistance_Homo sapiens_hsa049310.74669682
111Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.74356151
112Primary immunodeficiency_Homo sapiens_hsa053400.74217429
113Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74165965
114Carbon metabolism_Homo sapiens_hsa012000.73116106
115Cardiac muscle contraction_Homo sapiens_hsa042600.73003789
116Gastric acid secretion_Homo sapiens_hsa049710.72485688
117Dopaminergic synapse_Homo sapiens_hsa047280.72478348
118Insulin secretion_Homo sapiens_hsa049110.70986142
119Butanoate metabolism_Homo sapiens_hsa006500.70978572
120Prion diseases_Homo sapiens_hsa050200.70357489
121Vibrio cholerae infection_Homo sapiens_hsa051100.70116025
122Estrogen signaling pathway_Homo sapiens_hsa049150.69557925
123Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.69172972
124Thyroid cancer_Homo sapiens_hsa052160.67235511
125Chronic myeloid leukemia_Homo sapiens_hsa052200.66833015
126Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.66379770
127Drug metabolism - other enzymes_Homo sapiens_hsa009830.65600483
128Tryptophan metabolism_Homo sapiens_hsa003800.65137817
129Cyanoamino acid metabolism_Homo sapiens_hsa004600.64645986
130Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64583019
131Ether lipid metabolism_Homo sapiens_hsa005650.64345974
132Selenocompound metabolism_Homo sapiens_hsa004500.63444539
133Pentose and glucuronate interconversions_Homo sapiens_hsa000400.63343516
134Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.63149352
135AMPK signaling pathway_Homo sapiens_hsa041520.63062681
136ErbB signaling pathway_Homo sapiens_hsa040120.62489259
137Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.62458780
138Oxytocin signaling pathway_Homo sapiens_hsa049210.60447700
139Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60287852
140Regulation of autophagy_Homo sapiens_hsa041400.58838965
141Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.58810537
142Chemical carcinogenesis_Homo sapiens_hsa052040.58332590
143Glutathione metabolism_Homo sapiens_hsa004800.58202645
144Dilated cardiomyopathy_Homo sapiens_hsa054140.57933136
145Maturity onset diabetes of the young_Homo sapiens_hsa049500.57889680
146MicroRNAs in cancer_Homo sapiens_hsa052060.57854688
147Rap1 signaling pathway_Homo sapiens_hsa040150.57825543
148Neurotrophin signaling pathway_Homo sapiens_hsa047220.57740788
149Steroid hormone biosynthesis_Homo sapiens_hsa001400.56093699
150PPAR signaling pathway_Homo sapiens_hsa033200.55913920
151Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55858684
152Long-term depression_Homo sapiens_hsa047300.54114682
153Starch and sucrose metabolism_Homo sapiens_hsa005000.54099043
154Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53954483
155Complement and coagulation cascades_Homo sapiens_hsa046100.51545979
156Amphetamine addiction_Homo sapiens_hsa050310.50701095
157SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50017867
158Bladder cancer_Homo sapiens_hsa052190.49904427
159Toxoplasmosis_Homo sapiens_hsa051450.49550006
160Systemic lupus erythematosus_Homo sapiens_hsa053220.47800887
161Intestinal immune network for IgA production_Homo sapiens_hsa046720.47558627
162Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47406934
163Allograft rejection_Homo sapiens_hsa053300.45745892
164Endometrial cancer_Homo sapiens_hsa052130.45294226
165Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.43752999
166Pentose phosphate pathway_Homo sapiens_hsa000300.43367293
167Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.40472755
168Retinol metabolism_Homo sapiens_hsa008300.37687974
169Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33791843
170Type I diabetes mellitus_Homo sapiens_hsa049400.32152946
171mRNA surveillance pathway_Homo sapiens_hsa030150.30351761
172Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.29874037
173Tyrosine metabolism_Homo sapiens_hsa003500.28537122
174Ovarian steroidogenesis_Homo sapiens_hsa049130.24244390
175Glycerophospholipid metabolism_Homo sapiens_hsa005640.21848946
176Antigen processing and presentation_Homo sapiens_hsa046120.21784644
177N-Glycan biosynthesis_Homo sapiens_hsa005100.21627619
178Phenylalanine metabolism_Homo sapiens_hsa003600.18273480
179Vitamin digestion and absorption_Homo sapiens_hsa049770.17613652
180Taste transduction_Homo sapiens_hsa047420.17534077
181Herpes simplex infection_Homo sapiens_hsa051680.16583557
182Caffeine metabolism_Homo sapiens_hsa002320.15526690
183Epstein-Barr virus infection_Homo sapiens_hsa051690.15426141

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