Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PABPN1Poly(A) binding protein, nuclear 1 | 14q11.2-q13 | * Oculopharyngeal muscular dystorphy - OPMD (5.21)
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| 1p36.13 | * Myopathy, congenital, progressive with scoliosis - MYOSCO (3.47)
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PCNAProloferating cell nuclear antigen | 20p12.3 | * Ataxia telangiectasia-like disorder 2 - ATLD2 (13.101)
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PCYT2Phosphate cytidylyltransferase 2, ethanolamine | 17q25.3 | * Spastic paraplegia 82, autosomal recessive - SPG82 (15.74)
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PDK3Pyruvate dehydrogenase kinase, isoenzyme 3(M) | Xp22.11 | * Charcot-Marie-Tooth neuropathy X-linked 6 - (14.48)
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| 20p13-p12-3 | * Spinocerebellar ataxia 23 - SCA23 (13.21)
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PEX7Peroxisomal biogenesis factor 7 | 6q21-q22 | * Refsum disease, adult - RD (13.104)
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PFKMPhosphofructokinase, muscle | 12q13.3 | * Glycogen storage disease VII - PFKM (9.5)
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| 17p13.2 | * Amyotrophic lateral sclerosis 18 - ALS18 (12.69)
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PGAM2Phosphoglycerate mutase 2 (muscle) | 7p13-p12 | * Glycogen storage disease X - GSD10 (9.14) * Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
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PGK1Phosphoglycerate kinase 1 | Xq13 | * posphoglycerate kinase deficiency - (9.13)
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| 1p31 | * Glycogen storage disease XIV - GSD14 (9.7)
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PHKA1Phosphorylase b kinase, alpha submit | Xq13 | * glycogen storage disease, type IXD - GSD9D (9.6)
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PHOX2APaired-like aristaless homeobox protein 2A | 11q13.2 | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
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PHYHPhytanoyl-CoA 2-hydroxylase | 10q13 | * Refsum disease, adult - RD (13.103)
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PI4KAPhosphatidylinositol 4-kinase, alpha | 22q11.21 | * Spastic paraplegia 84, autosomal recessive - SPG84 (15.76)
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PIEZO2Piezo-type mechanosensitive ion channel component 2 | 18p11.22-p11.21 | * Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17) * Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
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PIGKPhosphatidylinositol Glycan Anchor Biosynthesis Class K Protein | 1p31.1 | * Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS (13.109)
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PIP5K1CPhosphatidylinositol-4-phosphate 5-kinase, type I, gamma | 19p13.3 | * Lethal congenital contractural syndrome 3 - LCCS3 (12.89)
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PITRM1Pitrilysin metallopeptidase 1 | 10p15.2 | * Spinocerebellar ataxia, autosomal recessive 30 - SCAR30 (13.90)
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| 12p11.21 | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.122)
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PLD3Phospholipase D family, member 3 | 19q13.2 | * Spinocerebellar ataxia 46 - SCA46 (13.43)
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| 8q24.3 | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.35, 1.59, 5.27, 11.36) * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.35, 1.59, 5.27, 11.36) * Myasthenic syndrome, with plectin defect - (1.35, 1.59, 5.27, 11.36) * Limb girdle muscular dystrophy with ophthalmoplegia - (1.35, 1.59, 5.27, 11.36)
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PLEKHG5Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | 1p36 | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.16, 14.25) * Axonal neuropathy intermediate recessive C - CMTRIC (12.16, 14.25)
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| 19p13.3 | * Distal Myopathy - (4.26)
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| 6q22.1 | * Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.54) * Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.54) * Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.54)
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PLP1Proteolipid protein 1 | Xq22 | * Spastic paraplegia 2 - SPG2 (15.85)
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PMP2peripheral myelin protein-2 | 8q21.13 | * Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
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PMP22Peripheral myelin protein 22 | 17p12-p11.2 | * Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.50) * Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.50) * Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.50) * Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.50)
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PMPCAMitochondrial processing peptidase-alpha, KIAA0123 | 9q34.3 | * Autosomal recessive spinocerebellar ataxia, 2 - SCAR2 (13.62)
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PNKPpolynucleotide kinase 3’-phosphatase | 19q13.33 | * Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.89, 14.97) * Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.89, 14.97)
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PNPLA2Adipose triglyceride lipase (desnutrin) | 1p15.5 | * Neutral lipid storage disease without ichthyosis - NLSDM (9.27)
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PNPLA6Patatin-like phospholipase domain containing 6 | 19p13.3-p13.2 | * Spastic paraplegia 39, autosomal recessive - SPG39 (15.45)
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PNPLA8Patatin-like phospholipase domain containing 8(M) | 7q31.1 | * Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
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POGLUT1Protein O-Glucosyltransferase 1 | 3q13.33 | * Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.37)
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POLGPolymerase (DNA directed), gamma(M) | 15q25 | * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.98, 16.34, 16.40, 16.48, 16.49) * spinocerebellar ataxia with epilepsy, included - SCAE (13.98, 16.34, 16.40, 16.48, 16.49) * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.98, 16.34, 16.40, 16.48, 16.49) * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.34, 16.40, 16.48, 16.49) * Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.34, 16.40, 16.48, 16.49) * Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.98, 16.34, 16.40, 16.48, 16.49)
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POLG2Mitochondrial DNA polymerase, accessory subunit(M) | 17q24.1 | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.37)
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POLR3BPolymerase III, RNA, Subunit B | 12q23.3 | * Charcot-Marie-Tooth neuropathy - CMT1I (14.9)
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POMGNT1O-linked mannose beta1,2-N-acetylglucosaminyltransferase | 1p34.1 | * Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.48, 2.20, 2.34) * Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.48, 2.20, 2.34) * Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.48, 2.20, 2.34) * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.48, 2.20, 2.34)
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POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 | 3p22.1 | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.52, 2.25) * Walker-Warburg syndrome - WWS (1.52, 2.25) * LGMDR24 - (1.52, 2.25)
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POMKProtein-O-mannose kinase | 8p11.21 | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.54, 2.29) * Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.54, 2.29)
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POMT1Protein-O-mannosyltransferase 1 | 9q34.1 | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.46, 2.18, 2.32) * Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.46, 2.18, 2.32) * Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.46, 2.18, 2.32) * Walker-Warburg syndrome - WWS (1.46, 2.18, 2.32)
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POMT2Protein-O-mannosyltransferase 2 | 14q24.3 | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.47, 2.19, 2.33) * Walker-Warburg syndrome - WWS (1.47, 2.19, 2.33) * Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.47, 2.19, 2.33) * Muscle-eye-brain disease - MEB (1.47, 2.19, 2.33)
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POPDC3Popeye domain-containing protein 3 | 6q21 | * LGMDR26 - LGMDR26 (1.43)
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PPCSPhosphopantothenosylcystein synthetase | 1p34.2 | * Dilated cardiomyopathy, 2C - CDMD2C (10.84)
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PPP2R2BProtein phosphatase 2 regulatory subunit B, beta isoform | 5q32 | * Spinocerebellar ataxia 12 - SCA12 (13.11)
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PRDM12PR/SET domain 12 (positive regulatory domain zinc finger protein 12) | 9q34.12 | * Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.117)
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PRDM16PR Domain-Containing Protein 16 | 1p36.32 | * Dilated cardiomyopathy related to PRDM16 - CMD1LL (10.111, 10.76) * LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 (10.111, 10.76) * Left ventricular noncompaction 8 - LVNC8 (10.111, 10.76)
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| 10q26.11 | * Spinocerebellar ataxia, autosomal recessive 32 - SCAR32 (13.92)
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PREPLProlyl endopeptidase-like | 2p21 | * Myasthenic syndrome, congenital, 22 - CMS22 (11.30)
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PRKAG2Protein kinase, AMP-activated, gamma 2 non-catalytic subunit | 7q31 | * Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5) * glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
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PRKCGProtein kinase C, gamma | 19q13.42 | * Spinocerebellar ataxia 14 - SCA14 (13.13)
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| 12q13.12 | * Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.79)
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PRPS1Phosphoribosyl pyrophosphate synthetase 1 | Xq21.32-q24 | * charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.47)
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PRUNE1Prune exopolyphosphatase 1 | 1q21.3 | * Spinal muscular atrophy, related to PRUNE1 - (12.105)
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| 19q13 | * Charcot-Marie-Tooth disease, type 4F - CMT4F (14.36, 14.53) * Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.36, 14.53)
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PSAT1Phosphoserine Aminotransferase 1 | 9q21.2 | * Progressive neuropathy - (14.105)
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| 14q24.2 | * Cardiomyopathy, dilated, 1U - CMD1U (10.59)
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| 1q42.13 | * Cardiomyopathy, dilated, 1W - CMD1V (10.60)
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PTRH2Peptidyl-tRNA Hydrolase 2(M) | 17q23.1 | * Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.72)
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PUM1Pumilio, Drosophila, Homologh of, 1 | 1p35.2 | * Spinocerebellar ataxia 47 - SCA47 (13.44)
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PUS1Pseudouridylate synthase 1(M) | 12q24.33 | * Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.61)
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PYGMGlycogen phosphorylase | 11q12-q13.2 | * McArdle disease - PYGM (9.4)
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PYROXD1Pyridine nucleotidedisulphide oxidoreductase domain 1 | 12p12.1 | * Early-onset myofibrillar myopathy with PYRODX1 defect - (1.60, 3.59, 5.9) * LGMD related to PYROXD1 - (1.60, 3.59, 5.9) * Congenital Myopathy related to PYROXD1 - (1.60, 3.59, 5.9)
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