|
511
|
|
|
Pleckstrin |
P47, PLEK1 |
|
|
512
|
|
|
Perilipin 1 |
FPLD4, PERI, PLIN |
Acanthosis nigricans, Diabetes mellitus, Fatty liver, Hyperinsulinism, Hypertension, Lipoatrophy, Lipodystrophy, Liver fibrosis, Obesity, Partial lipodystrophy, Polycystic ovary syndrome |
|
513
|
|
|
Polo like kinase 1 |
PLK, STPK13 |
|
|
514
|
|
|
Phospholamban |
CMD1P, CMH18, PLB |
Arrhythmogenic right ventricular cardiomyopathy, Atrial fibrillation, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Hearing loss, Hibernation, myocardial, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Lipoatrophy, Lipodystrophy, Myocardial infarction, Myocardial stunning, Myopathy, Palmoplantar keratoderma, Paroxysmal atrial fibrillation, Stunned myocardium, Ventricular arrhythmiaView all (3 more) |
|
515
|
|
|
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
EDS6, EDSKCL1, LH, LH1, LLH, PLOD |
Aortic aneurysm, Aortic dissection, Arachnodactyly, Bladder diverticulum, Breast cancer, Congenital clubfoot, Congenital epicanthus, Congenital omphalocele, Congenital scoliosis, Congestive heart failure, Corneal dystrophy, Cryptorchidism, Dolichocephaly, Ehlers-danlos syndrome, Kyphoscoliotic ehlers-danlos syndrome, Glaucoma, Globe rupture, High palate, Hydrocephalus, Keratoconus, Microcornea, Mitral valve prolapse, Motor delay, Moyamoya disease, Myopia, Hypotonia, Nevo syndrome, Osteoporosis, Porencephalic cyst, Retinal detachment, Retinal diseases, Rupture of artery, Scoliosis, Subcutaneous hemorrhage, Thoracic aortic aneurysm and aortic dissection, Thoracolumbar scoliosisView all (21 more) |
|
516
|
|
|
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
BRKS2, LH2, TLH |
Arthritis, Arthrogryposis multiplex congenita, Bone neoplasms, Bruck syndrome, Cleft soft palate, Congenital camptodactyly, Congenital clubfoot, Short femur, Congenital pectus carinatum, Dwarfism, Elbow flexion contracture, Juvenile arthritis, Liver cirrhosis, Liver fibrosis, Malignant bone neoplasm, Osteoarthrosis deformans, Osteogenesis imperfecta, Osteopenia, Osteoporosis, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Pterygium, Scoliosis, Still diseaseView all (9 more) |
|
517
|
|
|
Proteolipid protein 1 |
GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2 |
Bowel incontinence, Choreoathetosis, Cockayne syndrome, Developmental delay, Dwarfism, Dysarthria, Dysmorphic features, Dysphagia, Hypomyelinating leukodystrophy, Limb muscle atrophy, Mental retardation, Microcephaly, Multiple congenital anomalies, Null syndrome, Nystagmus, Optic atrophy, Pelizaeus-merzbacher disease, Rotary nystagmus, Schizophrenia, Sensory neuropathy, Spastic paraplegia, Spinocerebellar degeneration, Hereditary spastic paraplegiaView all (8 more) |
|
518
|
|
|
Plastin 1 |
DFNA76 |
|
|
519
|
|
|
Plastin 3 |
BMND18, DIH5, T-plastin |
|
|
520
|
|
|
Phospholipid transfer protein |
BPIFE, HDLCQ9 |
|
