241
|
|
|
Pentatricopeptide repeat domain 1 |
- |
|
242
|
|
|
Protein phosphatase 1 regulatory subunit 16B |
ANKRD4, TIMAP |
|
243
|
|
|
Pre-mRNA processing factor 31 |
NY-BR-99, PRP31, RP11, SNRNP61 |
Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Disorder of eye, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Macular edema, Mental retardation, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophyView all (3 more) |
244
|
|
|
PHD finger protein 19 |
MTF2L1, PCL3, TDRD19B |
|
245
|
|
|
Protein tyrosine phosphatase non-receptor type 22 |
LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8 |
Alopecia, Alopecia areata, Anemia, Ankylosing spondylitis, Anorexia, Aortic aneurysm, Aortic dissection, Apraxia, Arthritis, Asthma, Autoimmune diabetes, Autoimmune diseases, Autoimmune thyroiditis, Basal cell neoplasm, Carcinoma, Cataract, Cholangitis, Chronic obstructive pulmonary disease, Cranial nerve paralysis, Crohn disease, Diabetes insipidus, Diabetes mellitus, Brittle diabetes mellitus, Drachtman weinblatt sitarz syndrome, Dwarfism, Gangrene, Giant cell arteritis, Glaucoma, Glossitis, Granulomatosis, Granulomatosis with polyangiitis, Graves disease, Hashimoto disease, Hearing loss, Hodgkin disease, Hydronephrosis, Hyperglycemia, Hypertension, Hypothyroidism, Immune system diseases, Impaired cognition, Inflammatory abnormality of the eye, Inflammatory bowel disease, Intestinal obstruction, Iridocyclitis, Ketosis, Leukopenia, Liver failure, Lupus erythematosus, Mediastinal lymphadenopathy, Mental depression, Multiple sclerosis, Myasthenia gravis, Myositis, Nephritis, Nonbacterial verrucal endocardiosis, Nystagmus, Oligoarticular arthritis, Optic atrophy, Otitis media, Pancreatitis, Pauciarticular chronic arthritis, Pericarditis, Pleuritis, Poliosis, Polyarthritis, Polymyositis, Proptosis, Prostatitis, Psoriasis, Psychosis, Ptosis, Pulmonary fibrosis, Renal glomerular disease, Renal insufficiency, Retinal detachment, Retinal diseases, Rheumatoid arthritis, Rheumatoid factor-negative polyarticular arthritis, Scleroderma, Sensory neuropathy, Sinusitis, Systemic lupus erythematosus, Taussig-bing anomaly, Temporal arteritis, Ulcerative colitis, Uveomeningoencephalitic syndrome, Vasculitis, Vitiligo, Vogt-koyanagi-harada diseaseView all (75 more) |
246
|
|
|
Phosphatidylinositol transfer protein cytoplasmic 1 |
M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1 |
|
247
|
|
|
Phosphoglycerate dehydrogenase |
3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD, SERA |
3-phosphoglycerate dehydrogenase deficiency, Ablepharon, Absence of septum pellucidum, Agenesis of corpus callosum, Ambiguous genitalia, Anemia, Arthrogryposis multiplex congenita, Breast cancer, Mammary neoplasms, Breast carcinoma, Cataract, Central visual impairment, Cerebellar hypoplasia, Clinodactyly, Congenital camptodactyly, Congenital exomphalos, Pulmonary hypoplasia, Congenital microcephaly, Cryptorchidism, Dandy-walker syndrome, Dwarfism, Epilepsy, Epileptic encephalopathy, Eosinophilia, Esotropia, Gastroesophageal reflux disease, Hydranencephaly, Hypogonadism, Hypoplasia of corpus callosum, Hypotonic seizures, Ichthyosis, Leukemia, Lissencephaly, Liver neoplasms, Liver cancer, Lung carcinoma, Lymphoblastic leukemia, Macrotia, Marfan syndrome, Melanoma, Mental retardation, Microcephaly, Micrognathism, Micromelia, Microphthalmos, Multiple sclerosis, Muscular dystrophy, Myoclonic seizures, Neu-laxova syndrome, Nystagmus, Osteopenia, Osteoporosis, Pachygyria, Patent ductus arteriosus, Patent foramen ovale, Phosphoglycerate dehydrogenase deficiency, Polymicrogyria, Proptosis, Prostatic neoplasms, Prostate cancer, Pterygium, Renal agenesis, Rickets, Salaam seizures, Scoliosis, Seizure, Spastic quadriplegia, Spina bifida, Submucosal cleft palate, Syndactyly of fingers, Syndactyly of the toes, Talipes transversoplanus, Transposition of great vessels, Trismus, Ventricular septal defect, Vertical talusView all (61 more) |
248
|
|
|
Protein phosphatase 1 regulatory inhibitor subunit 14B |
PHI-1, PLCB3N, PNG, SOM172 |
|
249
|
|
|
Pleckstrin 2 |
- |
|
250
|
|
|
PiggyBac transposable element derived 3 |
- |
|