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- paired box 2: PAX2
- paired box 3: PAX3
- paired box 8: PAX8
- paired-like homeobox 2b: PHOX2B
- pantothenate kinase 2 (Hallervorden-Spatz syndrome): PANK2
- Parkinson disease (autosomal recessive, early onset) 7: PARK7
- Parkinson disease (autosomal recessive, juvenile) 2, parkin: PARK2
- paroxysmal nonkinesigenic dyskinesia: PNKD
- partner and localizer of BRCA2: PALB2
- patatin-like phospholipase domain containing 2: PNPLA2
- patched homolog 1 (Drosophila): PTCH1
- periaxin: PRX
- peripheral myelin protein 22: PMP22
- peripherin: PRPH
- peripherin 2 (retinal degeneration, slow): PRPH2
- phenylalanine hydroxylase: PAH
- phosphatase and tensin homolog (mutated in multiple advanced cancers 1): PTEN
- phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria): PIGA
- phospholipase A2, group VI (cytosolic, calcium-independent): PLA2G6
- plectin 1, intermediate filament binding protein 500kDa: PLEC1
- PMS2 postmeiotic segregation increased 2 (S. cerevisiae): PMS2
- poly(A) binding protein, nuclear 1: PABPN1
- polycystic kidney and hepatic disease 1 (autosomal recessive): PKHD1
- polycystic kidney disease 1 (autosomal dominant): PKD1
- polycystic kidney disease 2 (autosomal dominant): PKD2
- potassium inwardly-rectifying channel, subfamily J, member 2: KCNJ2
- potassium voltage-gated channel, Isk-related family, member 1: KCNE1
- potassium voltage-gated channel, Isk-related family, member 2: KCNE2
- potassium voltage-gated channel, KQT-like subfamily, member 1: KCNQ1
- potassium voltage-gated channel, KQT-like subfamily, member 4: KCNQ4
- potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia): KCNA1
- potassium voltage-gated channel, subfamily H (eag-related), member 2: KCNH2
- POU class 3 homeobox 4: POU3F4
- presenilin 1: PSEN1
- presenilin 2 (Alzheimer disease 4): PSEN2
- prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia): PRNP
- procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1: PLOD1
- programmed cell death 10: PDCD10
- prokineticin 2: PROK2
- prokineticin receptor 2: PROKR2
- proline dehydrogenase (oxidase) 1: PRODH
- propionyl Coenzyme A carboxylase, alpha polypeptide: PCCA
- propionyl Coenzyme A carboxylase, beta polypeptide: PCCB
- proprotein convertase subtilisin/kexin type 9: PCSK9
- prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy): PSAP
- protein kinase, AMP-activated, gamma 2 non-catalytic subunit: PRKAG2
- protein phosphatase 1, regulatory (inhibitor) subunit 12A: PPP1R12A
- protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1): PTPN11
- proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated): PLP1
- protocadherin 15: PCDH15
- protoporphyrinogen oxidase: PPOX
- PTEN induced putative kinase 1: PINK1
- pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha: PCBD1
- pyridoxamine 5'-phosphate oxidase: PNPO
- pyruvate carboxylase: PC
- 6-pyruvoyltetrahydropterin synthase: PTS
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