| Gene | Description | Location | Gene Omim Number | Disease Omim Number |
| PABPN1 | POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1 | 14q11.2-q13 | 602279 | 602279 |
| PACS1 | PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1 | 11q13.1-q13.2 | 607492 | 607492 |
| PAH | PHENYLKETONURIA; PKU | 12q24.1 | 261600 | 612349 |
| PANK2 | PANTOTHENATE KINASE 2; PANK2 | 20p13-p12.3 | 606157 | 606157 |
| PCCA | PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA | 13q32 | 232000 | 232000 |
| PCCB | PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB | 3q21-q22 | 232050 | 232050 |
| PDHA1 | PYRUVATE DEHYDROGENASE, ALPHA-1; PDHA1 | Xp22.2-p22.1 | 300502 | 300502 |
| PEX26 | PEROXISOME BIOGENESIS FACTOR 26; PEX26 | 22q11.21 | 608666 | 608666 |
| PGK1 | PHOSPHOGLYCERATE KINASE 1; PGK1 | Xq12 | 311800 | 311800 |
| PI | SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1; SERPINA1 | 14q32.1 | 107400 | 107400 |
| PLOD1 | PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1 | 1p36.3-p36.2 | 153454 | 153454 |
| PLP1 | PROTEOLIPID PROTEIN 1; PLP1 | Xq22 | 300401 | 300401 |
| PMM2 | PHOSPHOMANNOMUTASE 2; PMM2 | 16p13.3-p13.2 | 601785 | 601785 |
| PMP22 | PERIPHERAL MYELIN PROTEIN 22; PMP22 | 17p11.2 | 601097 | 601097 |
| POLG | POLYMERASE, DNA, GAMMA; POLG | 15q25 | 174763 | 174763 |
| POLH | POLYMERASE, DNA, ETA; POLH | 6p21.1-p12 | 603968 | 603968 |
| POMGNT1 | PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1 | 1p34.1 | 606822 | 606822 |
| POMT1 | PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1 | 9q34.1 | 607423 | 607423 |
| PPT1 | PALMITOYL-PROTEIN THIOESTERASE 1; PPT1 | 1p32 | 600722 | 600722 |
| PRPF31 | PRE-mRNA-PROCESSING FACTOR 31; PRPF31 | 19q13.42 | 606419 | 600138 |
| PTEN | PHOSPHATASE AND TENSIN HOMOLOG; PTEN | 10q23.31 | 601728 | 601728 |
| PVRL1 | NECTIN 1; NECTIN1 | 11q23-q24 | 600644 | 225060 |
| PYGM | GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM | 11q13 | 608455 | 608455 |