| Disease ID | Disease name | Source of annotation with PNPT1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS609060 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 29 | C12orf65, FARS2, GFM1, TARS2, MTFMT, MTO1, AIFM1, EARS2, NARS2, SFXN4, MRPS22, PNPT1, TSFM, ATP5A1, LYRM4, SLC25A26, MRPS16, MRPL3, TUFM, TRMT5, MRPL44, GTPBP3, VARS2, CARS2, RMND1, ELAC2, AARS2, TXN2, MARS2 |
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| RNA degradation | hsa03018 | 6.48 |
| Pyrimidine metabolism | hsa00240 | 6.01 |
| Purine metabolism | hsa00230 | 5.28 |
| GO term | GO ID | GO IC |
|---|---|---|
| exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters | GO:0016796 | 5.89 |
| polyribonucleotide nucleotidyltransferase activity | GO:0004654 | 9.74 |
| poly(G) binding | GO:0034046 | 7.79 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| poly-pyrimidine tract binding | GO:0008187 | 6.91 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| 3'-5' exonuclease activity | GO:0008408 | 5.83 |
| exonuclease activity | GO:0004527 | 5.33 |
| ribonuclease activity | GO:0004540 | 5.04 |
| transferase activity | GO:0016740 | 1.95 |
| hydrolase activity | GO:0016787 | 1.9 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| poly(U) RNA binding | GO:0008266 | 7.03 |
| catalytic activity | GO:0003824 | 1.05 |
| exoribonuclease activity, producing 5'-phosphomonoesters | GO:0016896 | 6.37 |
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| miRNA binding | GO:0035198 | 6.97 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly-purine tract binding | GO:0070717 | 6.79 |
| exoribonuclease activity | GO:0004532 | 6.21 |
| 3'-5'-exoribonuclease activity | GO:0000175 | 6.41 |
| single-stranded RNA binding | GO:0003727 | 5.5 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |