Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| paired-like aristaless homeobox protein 2A | |  * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
|
paraplegin | | * Spastic paraplegia 7 - SPG7 (15.20)
| patatin-like phospholipase domain containing 6 | | * Spastic paraplegia 39, autosomal recessive - SPG39 (15.36)
| periaxin | | * Charcot-Marie-Tooth disease, type 4F - CMT4F (14.22, 14.34)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.22, 14.34)
| peripheral myelin protein 22 | | * 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)
| perlecan | | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
| peroxisomal biogenesis factor 7 | | * Refsum disease, adult - RD (13.56)
| phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | | * Lethal congenital contractural syndrome 3 - LCCS3 (12.35)
| phosphofructokinase, muscle | | * Glycogen storage disease VII - PFKM (9.5)
| phosphoglucomutase 1 | | * Glycogen storage disease XIV - GSD14 (9.7)
| phosphoglycerate kinase 1 | | * 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)
| phosphoglycerate mutase 2 (muscle) | | * Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.12)
* Glycogen storage disease X - GSD10 (9.12)
| phospholamban | | * 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)
| phosphoribosyl pyrophosphate synthetase 1 | | * charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.30)
| phosphorylase b kinase, alpha submit | | * glycogen storage disease, type IXD - GSD9D (9.6)
| phytanoyl-CoA 2-hydroxylase | | * Refsum disease, adult - RD (13.55)
| plakophilin 2 | | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.80)
| pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8)
| plectin 1, intermediate filament binding protein 500kDa | | * 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)
| poly(A) binding protein, nuclear 1 | | * Oculopharyngeal muscular dystorphy - OPMD (5.12)
| polymerase (DNA directed), gamma | | * 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)
| polymerase I and transcript release factor | | * lipodystrophy, congenital generalized, type 4 - CGL4 (1.10)
| polyphosphoinositide phosphatase activity | | * charcot-marie-tooth disease, type 4j - CMT4J (14.25)
| potassium chloride cotransporter KCC3 | | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.63)
* Charlevoix disease - SLC12A6 (14.63)
* Andermann syndrome - SLC12A6 (14.63)
| potassium inwardly-rectifying channel J2 | | * Long QT syndrome-7 - LQT7 (7.14, 10.93, 10.98)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.93, 10.98)
| potassium voltage-gated channel, Isk-related family, member 1 | | * Long QT syndrome-5 - LQT5 (7.19, 10.91)
* Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.91)
| potassium voltage-gated channel, Isk-related family, member 2 | | * Long QT syndrome-6 - LQT6 (7.18, 10.100, 10.104, 10.92)
* Atrial fibrillation, 4 - ATFB4 (7.18, 10.100, 10.104, 10.92)
| Potassium voltage-gated channel, Isk-related family, member 3 | | * Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11)
| potassium voltage-gated channel, KQT-like subfamily, member 1 | | * Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* Romano-Ward syndrome - RWS (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
* Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.103, 10.87, 10.97, 10.99)
| potassium voltage-gated channel, shaker-related subfamily, member 1 | | * Episodic ataxia with myokymia - EA1 (7.12, 13.29)
| potassium voltage-gated channel, shaker-related subfamily, member 5 | | * atrial fibrillation, familial - ATFB7 (10.107)
| potassium voltage-gated channel, Shaw-related subfamily, member 3 | | * Spinocerebellar ataxia 13 - SCA13 (13.12)
| protein kinase C, gamma | | * Spinocerebellar ataxia 14 - SCA14 (13.13)
| protein kinase, AMP-activated, gamma 2 non-catalytic subunit | | * glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
* Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
| protein phosphatase 2 regulatory subunit B, beta isoform | | * Spinocerebellar ataxia 12 - SCA12 (13.11)
| Protein-O-mannosyltransferase 1 | | * Walker-Warburg syndrome - WWS (1.29, 2.7)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.29, 2.7)
| protein-O-mannosyltransferase 2 | | * 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)
| proteolipid protein 1 | | * Pelizaeus-Merzbacher disease - PMD (15.44)
* Spastic paraplegia 2 - SPG2 (15.44)
| protrudin | | * Spastic paraplegia 33 - SPG33 (15.13)
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