Disease phenotype
OMIM
Gene symbol (chromosome)
protein
protein
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Paramyotonia congenita of Von Eulenburg (7.3, 7.5, 7.4, 7.6, 11.20) | ||
| patient with HCM and isolated respiratory complex I deficiency (10.24) | ||
| Pelizaeus-Merzbacher disease (15.44) | ||
| Perineal hypospadias (12.32) | ||
| Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (7.14, 10.93, 10.98) | ||
| Phosphoglycerate kinase 1 pseudogene1 included (9.11) | ||
| Phosphoglycerate kinase 1 pseudogene2 included (9.11) | ||
| Pontocerebellar hypoplasia type 1 (12.36) | ||
| posphoglycerate kinase deficiency (9.11) | ||
| Potassium-aggravated myotonia (7.3, 7.5, 7.4, 7.6, 11.20) | ||
| Primary lateral sclerosis, juvenile (12.23, 15.42) | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.23, 16.20) | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.17) | ||
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.16, 13.51) | ||
| Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.39, 16.18) | ||
| progressive external ophthalmoplegia, autosomal dominant, 4 (16.19) | ||
| Progressive familial heart block, type I (10.89, 7.7, 10.31, 10.111, 10.116) | ||
| Prostate cancer (12.32) | ||
| Proximal myotonic myopathy (6.2) |
