Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Paired Box gene 7 | |  * Myopathy, congenital, progressive with scoliosis - MYOSCO (3.47)
|
Paired-like aristaless homeobox protein 2A | | * Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
| Paraplegin(M) | | * Spastic paraplegia 7 - SPG7 (15.28)
| Patatin-like phospholipase domain containing 6 | | * Spastic paraplegia 39, autosomal recessive - SPG39 (15.45)
| Patatin-like phospholipase domain containing 8(M) | | * Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
| Pentraxin I, neuronal, NP1 | | * Spinocerebellar ataxia 50 - SCA50 (13.47)
| Peptidyl-tRNA Hydrolase 2(M) | | * Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.72)
| Periaxin | | * Charcot-Marie-Tooth disease, type 4F - CMT4F (14.36, 14.53)
* Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.36, 14.53)
| Perilipin 4 | | * Distal Myopathy - (4.26)
| Peripheral myelin protein 22 | | * 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)
* Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.50)
* Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.50)
| peripheral myelin protein-2 | | * Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
| Peripherin | | * Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.79)
| Perlecan | | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
* Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
| Peroxiredoxin 3 | | * Spinocerebellar ataxia, autosomal recessive 32 - SCAR32 (13.92)
| Peroxisomal biogenesis factor 7 | | * Refsum disease, adult - RD (13.104)
| Phenylalanine-tRNA synthetase 2(M) | | * Spastic paraplegia 77, autosomal recessive - SPG77 (15.70)
| Phosphate cytidylyltransferase 2, ethanolamine | | * Spastic paraplegia 82, autosomal recessive - SPG82 (15.74)
| Phosphatidylinositol 4-kinase, alpha | | * Spastic paraplegia 84, autosomal recessive - SPG84 (15.76)
| Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein | | * Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS (13.109)
| Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | | * Lethal congenital contractural syndrome 3 - LCCS3 (12.89)
| Phosphofructokinase, muscle | | * Glycogen storage disease VII - PFKM (9.5)
| Phosphoglucomutase 1 | | * Glycogen storage disease XIV - GSD14 (9.7)
| Phosphoglycerate kinase 1 | | * posphoglycerate kinase deficiency - (9.13)
| Phosphoglycerate mutase 2 (muscle) | | * Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
* Glycogen storage disease X - GSD10 (9.14)
| Phospholamban | | * 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)
| Phospholipase D family, member 3 | | * Spinocerebellar ataxia 46 - SCA46 (13.43)
| Phosphopantothenosylcystein synthetase | | * Dilated cardiomyopathy, 2C - CDMD2C (10.84)
| Phosphoribosyl pyrophosphate synthetase 1 | | * charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.47)
| Phosphorylase b kinase, alpha submit | | * glycogen storage disease, type IXD - GSD9D (9.6)
| Phosphoserine Aminotransferase 1 | | * Progressive neuropathy - (14.105)
| Phytanoyl-CoA 2-hydroxylase | | * Refsum disease, adult - RD (13.103)
| Piezo-type mechanosensitive ion channel component 2 | | * Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
* Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
| Pitrilysin metallopeptidase 1 | | * Spinocerebellar ataxia, autosomal recessive 30 - SCAR30 (13.90)
| Plakophilin 2 | | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.122)
| Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | | * spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.16, 14.25)
* Axonal neuropathy intermediate recessive C - CMTRIC (12.16, 14.25)
| Plectin | | * 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)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.35, 1.59, 5.27, 11.36)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.35, 1.59, 5.27, 11.36)
| Poly(A) binding protein, nuclear 1 | | * Oculopharyngeal muscular dystorphy - OPMD (5.21)
| Polymerase (DNA directed), gamma(M) | | * Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (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)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.98, 16.34, 16.40, 16.48, 16.49)
* 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)
* Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.98, 16.34, 16.40, 16.48, 16.49)
| Polymerase III, RNA, Subunit B | | * Charcot-Marie-Tooth neuropathy - CMT1I (14.9)
| polynucleotide kinase 3’-phosphatase | | * Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.89, 14.97)
* Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.89, 14.97)
| Popeye domain-containing protein 3 | | * LGMDR26 - LGMDR26 (1.43)
| Potassium channel, inwardly rectifying, dubfamily J, member 2 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.142, 10.155, 10.166)
* Long QT syndrome-7 - LQT7 (10.142, 10.155, 10.166)
* Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.142, 10.155, 10.166)
* Atrial fibrillation, 9 - ATFB9 (10.142, 10.155, 10.166)
| Potassium chloride cotransporter KCC3 | | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.129)
* Charlevoix disease - SLC12A6 (14.129)
* Andermann syndrome - SLC12A6 (14.129)
| Potassium inwardly-rectifying channel, subfamily J, member 5 | | * Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.148, 10.152)
* Long QT syndrome 13 - LQT13 (10.148, 10.152)
| Potassium voltage-gated channel, Isk-related family, member 1 | | * Long QT syndrome-5 - LQT5 (10.140, 10.157)
* Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.140, 10.157)
| Potassium voltage-gated channel, Isk-related family, member 2 | | * Long QT syndrome-6 - LQT6 (10.141, 10.161)
* Atrial fibrillation, 4 - ATFB4 (10.141, 10.161)
| Potassium voltage-gated channel, Isk-related family, member 3 | | * Hypokalaemic periodic paralysis - HOKPP (7.11, 10.182)
* Brugada syndrome 6 - BRGDA6 (7.11, 10.182)
| Potassium voltage-gated channel, KQT-like subfamily, member 1 | | * Long QT syndrome-1 - LQT1 (10.136, 10.154, 10.156, 10.160)
* Romano-Ward syndrome - RWS (10.136, 10.154, 10.156, 10.160)
* jervell and lange-nielsen syndrome - JLNS1 (10.136, 10.154, 10.156, 10.160)
* Atrial fibrillation, 3 - ATFB3 (10.136, 10.154, 10.156, 10.160)
| Potassium voltage-gated channel, shaker-related subfamily, member 1 | | * Episodic ataxia with myokymia - EA1 (7.12)
| Potassium voltage-gated channel, shaker-related subfamily, member 5 | | * atrial fibrillation, familial - ATFB7 (10.164)
| Potassium voltage-gated channel, Shal-related subfamily, member 3 | | * Spinocerebellar ataxia 19 - SCA19 (10.185, 13.17)
* Brugada syndrome 9 - BRGDA9 (10.185, 13.17)
| Potassium voltage-gated channel, Shaw-related subfamily, member 3 | | * Spinocerebellar ataxia 13 - SCA13 (13.12)
| PR Domain-Containing Protein 16 | | * 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)
| PR/SET domain 12 (positive regulatory domain zinc finger protein 12) | | * Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.117)
| Presenilin 1 | | * Cardiomyopathy, dilated, 1U - CMD1U (10.59)
| Presenilin 2 | | * Cardiomyopathy, dilated, 1W - CMD1V (10.60)
| Prodynorphin | | * Spinocerebellar ataxia 23 - SCA23 (13.21)
| Profilin 1 | | * Amyotrophic lateral sclerosis 18 - ALS18 (12.69)
| Proloferating cell nuclear antigen | | * Ataxia telangiectasia-like disorder 2 - ATLD2 (13.101)
| Prolyl endopeptidase-like | | * Myasthenic syndrome, congenital, 22 - CMS22 (11.30)
| 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 O-Glucosyltransferase 1 | | * Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.37)
| protein O-linked mannose N-acetylglucosaminyltransferase 2 | | * Walker-Warburg syndrome - WWS (1.52, 2.25)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.52, 2.25)
* LGMDR24 - (1.52, 2.25)
| Protein phosphatase 2 regulatory subunit B, beta isoform | | * Spinocerebellar ataxia 12 - SCA12 (13.11)
| Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase | | * Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.39, 10.120)
* Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.39, 10.120)
* Congenital Myopathy 11 - CMYP11 (3.39, 10.120)
| Protein-O-mannose kinase | | * 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)
| Protein-O-mannosyltransferase 1 | | * Walker-Warburg syndrome - WWS (1.46, 2.18, 2.32)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.46, 2.18, 2.32)
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.46, 2.18, 2.32)
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.46, 2.18, 2.32)
| Protein-O-mannosyltransferase 2 | | * Walker-Warburg syndrome - WWS (1.47, 2.19, 2.33)
* Muscle-eye-brain disease - MEB (1.47, 2.19, 2.33)
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.47, 2.19, 2.33)
* Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.47, 2.19, 2.33)
| Proteolipid protein 1 | | * Spastic paraplegia 2 - SPG2 (15.85)
| Prune exopolyphosphatase 1 | | * Spinal muscular atrophy, related to PRUNE1 - (12.105)
| Pseudouridylate synthase 1(M) | | * Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.61)
| Pumilio, Drosophila, Homologh of, 1 | | * Spinocerebellar ataxia 47 - SCA47 (13.44)
| Pyridine nucleotidedisulphide oxidoreductase domain 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)
| Pyruvate dehydrogenase kinase, isoenzyme 3(M) | | * Charcot-Marie-Tooth neuropathy X-linked 6 - (14.48)
|
