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 (5.12)
|
PEO1
twinkle/twinky (mt DNA helicase)
| 10q23.3-q24.3 | * Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.39, 16.18)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.39, 16.18)
|
PEX7
peroxisomal biogenesis factor 7
| 6q21-q22 | * Refsum disease, adult - RD (13.56)
|
PFKM
phosphofructokinase, muscle
| 12q13.3 | * Glycogen storage disease VII - PFKM (9.5)
|
PGAM2
phosphoglycerate mutase 2 (muscle)
| 7p13-p12 | * Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.12)
* Glycogen storage disease X - GSD10 (9.12)
|
PGK1
phosphoglycerate kinase 1
| Xq13 | * posphoglycerate kinase deficiency - (9.11)
* Phosphoglycerate kinase 1 pseudogene1 included - PGK1P1 (9.11)
* Hemolytic anemia due to PGK deficiency - PGK1 (9.11)
* Myoglobinuria/hemolysis due to PGK deficiency - PGK1 (9.11)
* Phosphoglycerate kinase 1 pseudogene2 included - PGK1P2 (9.11)
|
PGM1
phosphoglucomutase 1
| 1p31 | * Glycogen storage disease XIV - GSD14 (9.7)
|
PHKA1
phosphorylase b kinase, alpha submit
| Xq13 | * glycogen storage disease, type IXD - GSD9D (9.6)
|
PHOX2A
paired-like aristaless homeobox protein 2A
| 11q13.2 | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
|
PHYH
phytanoyl-CoA 2-hydroxylase
| 10q13 | * Refsum disease, adult - RD (13.55)
|
PIP5K1C
phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
| 19p13.3 | * Lethal congenital contractural syndrome 3 - LCCS3 (12.35)
|
PKP2
plakophilin 2
| 12p11 | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.80)
|
PLEC1
plectin 1, intermediate filament binding protein 500kDa
| 8q24 | * Myasthenic syndrome, with plectin defect - (1.34, 5.14, 11.22)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.34, 5.14, 11.22)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.34, 5.14, 11.22)
|
PLEKHG5
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
| 1p36.31 | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8)
|
PLN
phospholamban
| 6q22.1 | * Hypertrophic cardiomyopathy with phospholamban defect - (10.20, 10.42)
* Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.20, 10.42)
* Cardiomyopathy, dilated, 1P - CMD1P (10.20, 10.42)
|
PLP1
proteolipid protein 1
| Xq22 | * Pelizaeus-Merzbacher disease - PMD (15.44)
* Spastic paraplegia 2 - SPG2 (15.44)
|
PMP22
peripheral myelin protein 22
| 17p12-p11.2 | * Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.31)
* Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.31)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.31)
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.31)
|
PNPLA2
adipose triglyceride lipase (desnutrin)
| 1p15.5 | * Neutral lipid storage disease without ichthyosis - NLSDM (9.23)
|
PNPLA6
patatin-like phospholipase domain containing 6
| 19p13.3-p13.2 | * Spastic paraplegia 39, autosomal recessive - SPG39 (15.36)
|
POLG
polymerase (DNA directed), gamma
| 15q25 | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.51, 16.16)
* Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.51, 16.16)
* spinocerebellar ataxia with epilepsy, included - SCAE (13.51, 16.16)
|
POLG2
mitochondrial DNA polymerase, accessory subunit
| 17q24.1 | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)
|
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
| 1p34.1 | * Muscle-eye-brain disease - MEB (1.33, 2.10, 2.11)
* Walker-Warburg syndrome - WWS (1.33, 2.10, 2.11)
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.33, 2.10, 2.11)
|
POMT1
Protein-O-mannosyltransferase 1
| 9q34.1 | * Walker-Warburg syndrome - WWS (1.29, 2.7)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.29, 2.7)
|
POMT2
protein-O-mannosyltransferase 2
| 14q24.3 | * Walker-Warburg syndrome - WWS2 (1.32, 2.8, 2.13)
* Muscle-eye-brain disease - MEB (1.32, 2.8, 2.13)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.32, 2.8, 2.13)
|
PPP2R2B
protein phosphatase 2 regulatory subunit B, beta isoform
| 5q31-5q32 | * Spinocerebellar ataxia 12 - SCA12 (13.11)
|
PRKAG2
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
| 7q31 | * glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
* Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
|
PRKCG
protein kinase C, gamma
| 19q13.4 | * Spinocerebellar ataxia 14 - SCA14 (13.13)
|
PRPS1
phosphoribosyl pyrophosphate synthetase 1
| Xq21.32-q24 | * charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.30)
|
PRX
periaxin
| 19q13 | * Charcot-Marie-Tooth disease, type 4F - CMT4F (14.22, 14.34)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.22, 14.34)
|
PSEN2
| 1q42.13 | * Cardiomyopathy, dilated, 1W - CMD1U (10.47)
|
PTRF
polymerase I and transcript release factor
| 17q21-q23 | * lipodystrophy, congenital generalized, type 4 - CGL4 (1.10)
|
PYGM
glycogen phosphorylase
| 11q12-q13.2 | * McArdle disease - PYGM (9.4)
|