PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE, C1850303
Source: ALL
Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
POLG | P54098 | DNA polymerase gamma, catalytic subunit | Enzyme | 2.1E-09 | 0.457 | 0.846 |
SPG7 | Q9UQ90 | SPG7 matrix AAA peptidase subunit, paraplegin | Enzyme | 2.0E-36 | 0.436 | 0.885 |
RRM2B | Q7LG56 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | Enzyme | 2.4E-03 | 0.527 | 0.769 |
TK2 | O00142 | thymidine kinase 2 | Kinase | 3.9E-07 | 0.585 | 0.615 |