PRSS1
| | Cationic trypsin | | Pancreatitis | | AD | | Digestion | | 167800 |
PRSS7
| | Enterokinase | | Malabsorption | | AR | | Digestion | | 226200 |
F7
| | Factor VII | | Haemophilia | | AR | | Procoagulation | | 227500 |
F9
| | Factor IX | | Haemophilia B | | X linked | | Procoagulation | | 306900 |
F10
| | Factor X | | Haemophilia | | AR | | Procoagulation | | 227600 |
F11
| | Factor XI | | Haemophilia C | | AR | | Procoagulation | | 264900 |
F12
| | Factor XII | | Haemophilia | | AR | | Procoagulation | | 234000 |
F2
| | Prothrombin | | Haemophilia | | AR | | Procoagulation | | 176930 |
F2
| | Prothrombin | | Thrombophilia | | AD | | Procoagulation | | 176930.0009 |
PROC
| | Protein C | | Thrombophilia | | AR | | Anticoagulant | | 176860 |
PLAT
| | Tissue plasminogen activator | | Thrombophilia | | AR | | Anticoagulant | | 173370 |
PLG
| | Plasminogen. | | Thrombophilia | | AR | | Anticoagulant | | 173350 |
C1R
| | C1r | | Complement deficiency | | AR | | Complement | | 216950 |
C1S
| | C1s | | Complement deficiency | | AR | | Complement | | 120580 |
C2
| | C2 | | Complement deficiency | | AR | | Complement | | 217000 |
MASP2
| | MASP2 protein | | Complement deficiency | | AR | | Complement | | 605102 |
CFI
| | Complement factor I | | Complement deficiency | | AR | | Complement | | 217030 |
PRSS12
| | Neurotrypsin | | Learning disabilities | | AR | | Remodelling of nervous tissue | | 249500 |
TMPRSS3
| | Transmembrane protease, serine 3 | | Deafness | | AR | | Activation of ENaC | | 605316 DFNB10, 601072 DFNB8 |
PC1
| | Prohormone convertase-1 | | Obesity | | AR | | Processing of prohormone | | 600955 |
PCSK9
| | NARC1 | | Hyper-cholesterolaemia | | AD | | Cholesterol level | | 603776 |
ELA2
| | Neutrophil elastase | | Neutropenia | | AD | | Differentiation myeloid precursors | | 202700, 162800 |
RELN
| | Reelin | | Lissencephaly | | AR | | Not known | | 257320 |
CLN2
| | Tripeptidyl-peptidase I | | Ceroid lipofuscinosis | | AR | | Lysosome | | 204500 |
CTSA
| | Cathepsin A | | Galactosialidosis | | AR | | Lysosome | | 256540 |