Disease ID | Disease name | Source of annotation with EEF1A2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 44 | EHMT1, MEF2C, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, NR1I3, PACS1, DPP6, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, AUTS2, CTNNB1, ARID1B, ZBTB18, CACNG2, MBD5, SMARCB1, KANSL1, SMARCE1, COL4A3BP, MYT1L, ADNP, SMARCA4, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A |
PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
RNA transport | hsa03013 | 5.37 |
Legionellosis | hsa05134 | 6.88 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Gene Expression | R-HSA-74160 | 2.72 |
Eukaryotic Translation Elongation | R-HSA-156842 | 6.52 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Translation | R-HSA-72766 | 5.8 |
GO term | GO ID | GO IC |
---|---|---|
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
enzyme binding | GO:0019899 | 2.27 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
heterocyclic compound binding | GO:1901363 | 1.06 |
purine nucleoside binding | GO:0001883 | 2.22 |
nucleoside binding | GO:0001882 | 2.21 |
guanyl nucleotide binding | GO:0019001 | 3.73 |
nucleotide binding | GO:0000166 | 1.96 |
guanyl ribonucleotide binding | GO:0032561 | 3.73 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
ribonucleoside binding | GO:0032549 | 2.22 |
purine nucleotide binding | GO:0017076 | 2.19 |
GTP binding | GO:0005525 | 3.78 |
hydrolase activity | GO:0016787 | 1.9 |
translation factor activity, RNA binding | GO:0008135 | 5.07 |
GTPase activity | GO:0003924 | 4.31 |
nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
protein kinase binding | GO:0019901 | 3.44 |
kinase binding | GO:0019900 | 3.32 |
small molecule binding | GO:0036094 | 1.89 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
catalytic activity | GO:0003824 | 1.05 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
pyrophosphatase activity | GO:0016462 | 3.04 |
RNA binding | GO:0003723 | 2.36 |
protein binding | GO:0005515 | 0.46 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
translation elongation factor activity | GO:0003746 | 6.27 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |