A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
P2RY10 purinergic receptor P2Y, G-protein coupled, 10 300529 P2RY10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 300038 P2RY4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
P2RY8 purinergic receptor P2Y, G-protein coupled, 8 300525 P2RY8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PABPC5 poly(A) binding protein, cytoplasmic 5 300407 PABPC5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PABPN1 poly(A) binding protein, nuclear 1 602279 Leiden Muscular Dystrophy pages Johan T den Dunnen Leiden Univ. Med Centre
PAGE1 P antigen family, member 1 (prostate associated) 300288 PAGE1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PAGE3 P antigen family, member 3 (prostate associated) 300739 PAGE3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PAH phenylalanine hydroxylase 612349 Phenylalanine Hydroxylase Locus Knowledgebase Charles R. Scriver, Lynne Prevost, Mélanie Hurtubise & David Konecki, PAH Mutation Analysis Consortium, McGill University, Montreal, Canada
PALB2 partner and localizer of BRCA2 610355 Fanconi Anaemia Mutation Database Arleen Auerbach, Rockefeller University, New York, USA
PARK2 Parkinson disease (autosomal recessive, juvenile) 2, parkin 602544 PARK2 Parkinson's disease Mutation Database The Parkinson's Institute
PARK7 Parkinson disease (autosomal recessive, early onset) 7 602533 PARK7 Parkinson's disease Mutation Database The Parkinson's Institute
PASD1 PAS domain containing 1 \N PASD1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PAX2 paired box 2 167409 PAX2 mutation database Matthew Bower, University of Minnesota Medical Center
PAX2 paired box 2 167409 PAX2 Mutation Database Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK
PAX3 paired box 3 606597 PAX3 database at LOVD Veronique Pingault Laboratoire de Biochimie et Génétique, Hopital Henri Mondor Creteil cedex, France
PAX6 paired box 6 607108 PAX6 Mutation Database-Aniridia Type II Graeme Grimes & Isabel Hanson, MRC, Human Genetics Unit, Edinburgh, UK
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 126090 Pterin-4a-carbionolaminedehydratase deficiency-BIOMED database N. Blau, Univ.Children's Hospital, Zurich, J.L. Dhont, Facultélibre de Médicine, Lille, I.Dianzani, Univ.Torino, Torino, Italy
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha 126090 BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND Nenad Blau, Univ.Children's Hospital, Zurich
PCCA propionyl Coenzyme A carboxylase, alpha polypeptide 232000 Propionyl CoA Carboxylase Page Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA, Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep.
PCCB propionyl Coenzyme A carboxylase, beta polypeptide 232050 Propionyl CoA Carboxylase Page Jan P. Kraus, Maja Chloupkova, Dept. Paediatrics, Univ. of Colorado, Sch. Of Med. Denver, USA; Mirek Janosik, Inst. Inherited Metabolic Dis., 1st Fac. Of Med., Charles Univ. Prague, Czech Rep.
PCDH11X protocadherin 11 X-linked 300246 PCDH11X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PCDH15 protocadherin-related 15 605514 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
PCDH15 protocadherin-related 15 605514 Mutations of the Protocadherin 15 Gene Retina International
PCDH15 protocadherin-related 15 605514 The UMD PCDH15 mutations database A.-F. Roux and D. Baux
PCDH15 protocadherin-related 15 605514 Retinal and hearing impairment genetic mutation database PCDH15 david baux
PCDH19 protocadherin 19 300460 PCDH19 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PCNT pericentrin 605925 Mental Retardation database - pericentrin (PCNT) Johan T den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PCSK9 proprotein convertase subtilisin/kexin type 9 607786 Hypercholesterolemia, Familial Sarah Leigh
PCYT1B phosphate cytidylyltransferase 1, choline, beta 604926 PCYT1B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDC phosducin 171490 Mutations of the Phosducin Gene Retina International
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 180071 Mutations of the Phosphodiesterase type 6 Retina International
PDE7B phosphodiesterase 7B 604645 Phosphodiesterase 7B (PDE7B) database Belinda Giardine and Joseph Borg
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 300502 PDHA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDK3 pyruvate dehydrogenase kinase, isozyme 3 602526 PDK3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 613200 PDS5A database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 605333 PDS5B database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
PEX1 peroxisomal biogenesis factor 1 602136 dbPEX, PEX1 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX10 peroxisomal biogenesis factor 10 602859 dbPEX, PEX10 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX12 peroxisomal biogenesis factor 12 601758 dbPEX, PEX12 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX13 peroxisomal biogenesis factor 13 601789 dbPEX, PEX13 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX14 peroxisomal biogenesis factor 14 601791 dbPEX, PEX14 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX16 peroxisomal biogenesis factor 16 603360 dbPEX, PEX16 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX19 peroxisomal biogenesis factor 19 600279 dbPEX, PEX19 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX2 peroxisomal biogenesis factor 2 170993 dbPEX, PEX2 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX26 peroxisomal biogenesis factor 26 608666 dbPEX, PEX26 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX3 peroxisomal biogenesis factor 3 603164 dbPEX, PEX3 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX5 peroxisomal biogenesis factor 5 600414 dbPEX, PEX5 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX6 peroxisomal biogenesis factor 6 601498 dbPEX, PEX6 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PEX7 peroxisomal biogenesis factor 7 601757 dbPEX, PEX7 Gene Database Nancy Braverman and Steven Steinberg, The Johns Hopkins Medical Institutions and Kennedy Krieger Institute, Baltimore MD, USA.
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 311790 PFKFB1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PGAM4 phosphoglycerate mutase family member 4 300567 PGAM4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PGK1 phosphoglycerate kinase 1 311800 PGK1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PGRMC1 progesterone receptor membrane component 1 300435 PGRMC1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PHEX phosphate regulating endopeptidase homolog, X-linked 300550 PHEXdb Locus Database Y. Sabbagh, A. O. Jones, H. S. Tenenhouse, Manyphong Phommarinh, McGill University , Canada, Montreal
PHF16 PHD finger protein 16 300618 PHF16 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PHF8 PHD finger protein 8 300560 PHF8 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PHKA1 phosphorylase kinase, alpha 1 (muscle) 311870 PHKA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PHKA2 phosphorylase kinase, alpha 2 (liver) 306000 PHKA2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 311770 PIGA database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PIM2 pim-2 oncogene 300295 PIM2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 300252 PIN4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PINK1 PTEN induced putative kinase 1 608309 PINK1 Parkinson's disease Mutation Database The Parkinson's Institute
PIR pirin (iron-binding nuclear protein) 603329 PIR database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PITX3 paired-like homeodomain 3 602669 PITX3 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
PJA1 praja ring finger 1 300420 PJA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PKD1 polycystic kidney disease 1 (autosomal dominant) 601313 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera
PKD1 polycystic kidney disease 1 (autosomal dominant) 601313 Autosomal Dominant Polycystic Kidney Disease: Mutation Database Polycystic Kidney Research Foundation
PKD2 polycystic kidney disease 2 (autosomal dominant) 173910 Autosomal Dominant Polycystic Kidney Disease: Mutation Database Polycystic Kidney Research Foundation
PKD2 polycystic kidney disease 2 (autosomal dominant) 173910 Autosomal Dominant Polycystic Kidney Disease (ADPKD) Dr. Francesco Caruso, Dr. Riccardo Magistroni, Dr. Daniele Lodi, Dr.ssa Lucia Palmieri and Dr.ssa Paola Carrera
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 606702 Autosomal Recessive Polycystic Kidney Disease Carsten Bergmann, Klaus Zerres, Dept. of Human Genetics, Aachen University, Aachen Germany
PKLR pyruvate kinase, liver and RBC 609712 PKLR Mutation Database Richard van Wijk, University Medical Center Utrecht, Utrecht, The Netherlands
PKP2 plakophilin 2 602861 ARVD/C Genetic Variants Database Paul van der Zwaag
PKP2 plakophilin 2 602861 ARVD/C Genes Variants Database Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 603604 Mutation Database for Phospholipase A2 GroupVI - Associated Neurodegeneration (PLAN) Dr Manju A Kurian, Ms Danielle Crompton, and Dr Derek Lim
PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 \N PLCXD1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLEC plectin 601282 Leiden Muscular Dystrophy pages - Plectin (PLEC) Johan T den Dunnen Leiden Univ. Med Centre
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 153454 Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 601865 Osteogenesis Imperfecta Variant Database Raymond Dalgleish, Leicester, U.K.
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 603066 Database of osteogenesis imperfecta & Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
PLP1 proteolipid protein 1 300401 Mental Retardation database proteolipid protein 1 (PLP1) Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLP2 proteolipid protein 2 (colonic epithelium-enriched) 300112 Mental Retardation database proteolipid protein 2 (colonic epithelium-enriched) (PLP2) Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLS3 plastin 3 300131 PLS3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLXNA3 plexin A3 300022 PLXNA3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PLXNB3 plexin B3 300214 PLXNB3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PMM2 phosphomannomutase 2 601785 Congenital Disorders of Glycosylation pages Gert Matthijs, Center for Human Genetics Leuven, Belgium
PMP22 peripheral myelin protein 22 601097 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 600258 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 600258 Zhejiang University-Adinovo Center PMS1 Database Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 600259 Hereditary Non-Polyposis Colorectal Cancer, HNPCC International Collaborative Group on Hereditary Non Polyposis Colorectal Cancer (ICG-HNPCC)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 600259 Zhejiang University-Adinovo Center PMS2 Database Ming Qi, PhD, FACMG, Peikuan Cong, Shu Zheng, MD, Yudong Gao and Changsong Lin
PNMA3 paraneoplastic antigen MA3 300675 PNMA3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNMA5 paraneoplastic antigen like 5 \N PNMA5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNMA6A paraneoplastic antigen like 6A \N PNMA6A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNP purine nucleoside phosphorylase 164050 NPbase: Mutation registry for PNP deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
PNPLA4 patatin-like phospholipase domain containing 4 300102 PNPLA4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PNPO pyridoxamine 5'-phosphate oxidase 603287 BIOMDB Database of Mutations Causing Tetrahydrobiopterin Deficiencies and PND Nenad Blau, Beat Thony, Gajja Salomons, Support by Swiss National Science Foundation
POF1B premature ovarian failure, 1B 300603 POF1B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 312040 POLA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 606822 Leiden Muscular Dystrophy pages Rosário dos Santos & Johan den Dunnen
POMT1 protein-O-mannosyltransferase 1 607423 Leiden Muscular Dystrophy Pages Rosário dos Santos & Johan den Dunnen
POMT2 protein-O-mannosyltransferase 2 607439 Leiden Muscular Dystrophy Pages Rosário dos Santos & Johan den Dunnen
POR P450 (cytochrome) oxidoreductase 124015 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
PORCN porcupine homolog (Drosophila) 300651 PORCN at LOVD M.P. Lombardi and R.C.M. Hennekam, Academic Medical Center, University of Amsterdam
POU3F4 POU class 3 homeobox 4 300039 POU3F4 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
POU3F4 POU class 3 homeobox 4 300039 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
POU4F3 POU class 4 homeobox 3 602460 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
PPEF1 protein phosphatase, EF-hand calcium binding domain 1 300109 PPEF1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PPIB peptidylprolyl isomerase B (cyclophilin B) 123841 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F \N PPP1R3F database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PPP2R3B protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta 300339 PPP2R3B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PPT1 palmitoyl-protein thioesterase 1 600722 Neuronal Ceroid Lipofuscinoses; NCL Mutations Sara E. Mole, MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom
PPT1 palmitoyl-protein thioesterase 1 600722 Mutations of the Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene Retina International
PQBP1 polyglutamine binding protein 1 300463 PQBP1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRDX4 peroxiredoxin 4 606506 PRDX4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRF1 perforin 1 (pore forming protein) 170280 PRF1base: Mutation registry for Familiar haemophagocytic lymphohistiocytosis, type II (FHL2) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
PRF1 perforin 1 (pore forming protein) 170280 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
PRICKLE3 prickle homolog 3 (Drosophila) 300111 PRICKLE3 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRKCG protein kinase C, gamma 176980 Mutations of the Protein Kinase C γ Retina International
PRKX protein kinase, X-linked 300083 PRKX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRNP prion protein 176640 Prion Protein/CJD database Sperling Biomedical Foundation, Oregon, U.S.A.
PROM1 prominin 1 604365 Mutations of the Prominin (mouse)-like 1 gene (PROML1) Retina International
PROM1 prominin 1 604365 Prominin 1 (PROM1) database at LOVD Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland
PROS1 protein S (alpha) 176880 Protein S Deficiency: A database of Mutations S. Gandrille, INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, 4 Avenue de l'Observatoire, 75006 Paris, FRANCE
Protein Kinase multiple protein kinase domains \N KinMutBase: A registry of disease-causing mutations in protein kinase domains Mauno Vihinen, Kaj Stenberg, Univ. of Tampere, Tampere, Finland
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 606419 Mutations of the RNA Processing Factor 31 Retina International
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 607300 Mutations of the Precursor mRNA Processing Protein 8 Retina International
PRPH2 peripherin 2 (retinal degeneration, slow) 179605 Mutations of the RDS/Peripherin Gene Retina International
PRPS1 phosphoribosyl pyrophosphate synthetase 1 311850 PRPS1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRPS2 phosphoribosyl pyrophosphate synthetase 2 311860 PRPS2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 604428 PRRG1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 300685 PRRG3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PRSS1 protease, serine, 1 (trypsin 1) 276000 Database of genetic variants in patients with chronic pancreatitis Niels Teich, Universität Leipzig, Medizinische Klinik und Poliklinik IID-04103 Leipzig, Germany
PRX periaxin 605725 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
PSEN1 presenilin 1 104311 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts & Nathalie Brouwers Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
PSEN2 presenilin 2 (Alzheimer disease 4) 600759 Alzheimer Disease & Frontotemporal Dementia Mutation Database Marc Cruts & Nathalie Brouwers, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 603480 PSMD10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 606347 PAPA syndrome: INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Carol Wise, Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children,Dallas, USA
PTCH1 patched homolog 1 (Drosophila) 601309 PTCH Mutation Database Rune Toftgard, Karolinska Institut, Sweden; Georgia Chenevix-Trench, QIMR, Brisbane, Australia; Mike Dean, National Cancer Institute, Maryland, U.S.A.
PTCHD1 patched domain containing 1 \N PTCHD1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
PTGIS prostaglandin I2 (prostacyclin) synthase 601699 Human Cytochrome P450 (CYP) Allele Nomenclature Committee Magnus Ingelman-Sundberg, Ann K. Daly, Daniel W. Nebert, Sarah Sim, Karolinska Institutet, Stockholm, Sweden
PTPRC protein tyrosine phosphatase, receptor type, C 151460 PTPRCbase: Mutation registry for CD45 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
PTRF polymerase I and transcript release factor 603198 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre, other curators invited
PTS 6-pyruvoyltetrahydropterin synthase 261640 6-Pyruvoyl-tetrahydropterinsynthase deficiency-BIOMED database N. Blau, Univ.Children's Hospital, Zurich; J.L. Dhont, Faculté libre de Médicine, Lille, France; I.Dianzani, Univ.Torino, Torino, Italy

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