Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
PABPN1
poly(A) binding protein, nuclear 1
14q11.2-q13
 | Oculopharyngeal muscular dystorphy -OPMD |
| Oculopharyngeal muscular dystrophy, autosomal recessive -OPMD |
PEO1
twinkle/twinky (mt DNA helicase)
10q23.3-q24.3
| Spinocerebellar ataxia, infantile-onset, with sensory neuropathy -IOSCA |
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEO3A |
PEX7
peroxisomal biogenesis factor 7
6q21-q22
| refsum disease, adult -RD |
PFKM
phosphofructokinase, muscle
12q13.3
| Glycogen storage disease VII -PFKM |
PGAM2
phosphoglycerate mutase 2 (muscle)
7p13-p12
| Myopathy due to phosphoglycerate mutase deficiency -PGAMM |
PGK1
phosphoglycerate kinase 1
Xq13
| posphoglycerate kinase deficiency - |
| Hemolytic anemia due to PGK deficiency -PGK1 |
| Phosphoglycerate kinase 1 pseudogene1 included -PGK1P1 |
| Phosphoglycerate kinase 1 pseudogene2 included -PGK1P2 |
| Myoglobinuria/hemolysis due to PGK deficiency -PGK1 |
PHOX2A
paired-like aristaless homeobox protein 2A
11q13.2
| Fibrosis of extraocular muscles, congenital, 2 -CFEOM2 |
PHYH
phytanoyl-CoA 2-hydroxylase
10q13
| refsum disease, adult -RD |
PIP5K1C
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
19p13.3
| lethal congenital contractural syndrome 3 -LCCS3 |
PKP2
plakophilin 2
12p11
| Arrhythmogenic right ventricular dysplasia, 9 -ARDV9 |
PLEC1
plectin 1, intermediate filament binding protein 500kDa
8q24
| myasthenic syndrome, myopathy and epidermis bullosa - |
| Epidermolysis bullosa simplex, Ogna type -EBS1 |
| Muscular dystrophy with epidermolysis bullosa simplex -MDEBS |
PLEKHG5
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
1p36.31
| spinal muscular atrophy, distal, autosomal recessive, 4 -DSMA4 |
PLN
phospholamban
6q22.1
| Cardiomyopathy, idiopathic dilated -PLN |
| Cardiomyopathy, dilated, 1P -CMD1P |
PLP1
proteolipid protein 1
Xq22
| Pelizaeus-Merzbacher disease -PMD |
| Spastic paraplegia 2 -SPG2 |
PMP22
peripheral myelin protein 22
17p12-p11.2
| Charcot-Marie-Tooth disease, type 1A -CMT1A |
| Charcot-Marie-Tooth disease, type 1E -CMT1E |
| Dejerine-Sottas Syndrome -DSS |
| Neuropathy, recurrent, with pressure palsies -HNPP |
| Roussy-Levy hereditary areflexic dystasia -PMP22 |
PNPLA2
adipose triglyceride lipase (desnutrin)
1p15.5
| neutral lipid storage disease without ichthyosis -NLSDM |
PNPLA6
patatin-like phospholipase domain containing 6
19p13.3-p13.2
| spastic paraplegia 39, autosomal recessive -SPG39 |
POLG
polymerase (DNA directed), gamma
15q25
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal -PEOA1 |
| sensory ataxic neuropathy, dysarthria, and ophthalmoparesis -SANDO |
| spinocerebellar ataxia with epilepsy, included -SCAE |
POLG2
mitochondrial DNA polymerase, accessory subunit
17q24.1
| progressive external ophthalmoplegia, autosomal dominant, 4 -PEOA4 |
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
1p34.1
| limb-girdle, muscular dystrophy, type 2o -LGMD2O |
| Muscle-eye-brain disease -MEB |
| Walker-Warburg syndrome -WWS |
POMT1
Protein-O-mannosyltransferase 1
9q34.1
| Walker-Warburg syndrome -WWS |
| Muscular dystrophy, Limb-Girdle, type 2K -LGMD2K |
POMT2
protein-O-mannosyltransferase 2
14q24.3
| limb-girdle, muscular dystrophy, type 2n -LGMD2N |
| Walker-Warburg syndrome -WWS2 |
| Muscle-eye-brain disease -MEB |
PPP2R2B
protein phosphatase 2 regulatory subunit B, beta isoform
5q31-5q32
| Spinocerebellar ataxia 12 -SCA12 |
PRKAG2
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
7q31
| Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome -CMH6 |
PRKCG
protein kinase C, gamma
19q13.4
| Spinocerebellar ataxia 14 -SCA14 |
PRPS1
phosphoribosyl pyrophosphate synthetase 1
Xq21.32-q24
| charcot-marie-tooth disease, x-linked recessive, 5 -CMTX5 |
PRX
periaxin
19q13
| Dejerine-Sottas neuropathy, autosomal recessive -CMT4F |
| Charcot-Marie-Tooth disease, type 4F -CMT4F |
PTRF
Polymerase I and transcript release factor (cavin-1)
17q21
| lipodystrophy, congenital generalize, type 4 -PTRF |
PYGM
glycogen phosphorylase
11q12-q13.2
| McArdle disease -PYGM |