Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Paramyotonia congenita of Von Eulenburg (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | 168300 | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha       |
| patient with HCM and isolated respiratory complex I deficiency (10.31) | NDUFAF1 (15q15.1) NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M) | |
| Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (10.155, 10.166, 10.142) | 170390 | KCNJ2 (17q24.3) Potassium channel, inwardly rectifying, dubfamily J, member 2 |
| Peripheral neuropathy and deafness, autosomal dominant (14.127) | GJB3 (1p34.3) Gap junction protein, beta 3, 31kDa (=connexin 31) | |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (12.112, 14.99) | 618124 | MCM3AP (21q22.3) Minichromosome maintenance 3-associated protein |
| Peripheral neuropathy, myopathy, hoarseness and hearing loss (12.110) | 614369 | MYH14 (19q13.33) Myosin, heavy chain 14, non muscle |
| Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (17.37) | 615704 | FAM111B (11q12.1) Family with sequence similarity 111 member B |
| Polyglucosan Body Myopathy 1 with or without immunodeficiency (9.10) | 615895 | RBCK1 (20p13) RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1) |
| Polyglucosan Body Myopathy 2 (9.7, 9.11) | 616199 | GYG1 (3q24) Glycogenin 1 |
| Polyneuropathy with erythromelalgia (14.124) | NMNAT2 (1q25.3) Nicotinamide nucleoside adenyltransferase 2 | |
| Pontocerebellar hypoplasia type 1 (12.103, 14.132, 12.14) | 607596 | VRK1 (14q32) Vaccinia related kinase 1 |
| Pontocerebellar hypoplasia, type 1D (12.20) | 618065 | EXOSC9 (4q27 ) Exosome component 9 |
| posphoglycerate kinase deficiency (9.17) | 300653 | PGK1 (Xq13) Phosphoglycerate kinase 1 |
| Potassium-aggravated myotonia (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60) | 608390 | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha |
| Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.39) | UNC13A (19p13.11) Unc-13 homolog A (C. elegans) | |
| Presynaptic congenital myasthenic syndrome (11.38) | LAMA5 (20q13.33) Laminin, Alpha 5 | |
| Presynaptic congenital myasthenic syndrome 23 (11.31) | 618197 | SLC25A1 (22q11.21) Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 (M) |
| Presynaptic congenital myasthenic syndrome 24 (11.32) | 618198 | MYO9A (15q23) Myosin IXA |
| Presynaptic congenital myasthenic syndrome 25 (15.91, 11.33) | 618323 | VAMP1 (12p13) Vesicle associated membrane protein (synaptobrevin 1) (M) |
| Primary lateral sclerosis, juvenile (12.55, 15.84) | 606353 | ALS2 (2q33.2) Alsin Rho guanine nucleotide exchange factor 2 |
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.1, 13.98, 16.7, 16.16, 16.15) | 157640 | POLG (15q25) Polymerase (DNA directed), gamma (M) |
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.60, 16.3) | 609286 | TWNK (10q23.-q24.1) Twinkle mtDNA helicase |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (17.41, 16.5, 17.40) | 613077 | RRM2B (8q23.1) Ribonucleotide reductase M2 B (TP53 inducible) (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.2, 16.19, 16.18) | 609283 | SLC25A4 (4q35) Mitochondrial carrier; adenine nucleotide translocator (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (16.6) | 615156 | DNA2 (10q21.3) DNA replication helicase 2 (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (16.11) | 618098 | TOP3A (17p11.2) DNA topoisomerase III |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.1, 13.98, 16.7, 16.16, 16.15) | 258450 | POLG (15q25) Polymerase (DNA directed), gamma (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.8) | 616479 | RNASEH1 (2p25.3) Ribonuclease H1 (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.13, 13.28, 16.9) | 617069 | TK2 (16q22-q23) Thymidine kinase 2, mitochondrial (M) |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.10, 16.14) | 617070 | DGUOK (2p13.1) Deoxyguanosine kinase (M) |
| Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness (16.21, 16.20) | 125250 | OPA1 (3q28-q29) optic atrophy 1 (M) |
| progressive external ophthalmoplegia, autosomal dominant, 4 (16.4) | 610131 | POLG2 (17q24.1) Mitochondrial DNA polymerase, accessory subunit (M) |
| Progressive familial heart block, type I (10.138, 10.43, 10.177, 10.187, 10.167) | 113900 | SCN5A (3p22.2) Voltage-gated sodium channel type V alpha |
| Progressive neuropathy (12.115) | PSAT1 (9q21.2) Phosphoserine Aminotransferase 1 | |
| Proximal myotonic myopathy (6.2) | 602668 | CNBP (3q21.3) Cellular nucleic acid-binding protein |
| PURA syndrome with neurmuscular junction manisfestations (11.45) | 616158 | PURA (5q31.3) Purine-rich element-binding protein A |