411
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class T |
CGI-06, MCAHS3, NDAP, PIG-T, PNH2 |
Anemia, Brachycephaly, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral atrophy, Congenital pectus excavatum, Dermatographic urticaria, Developmental delay, Developmental regression, Esotropia, High palate, Hyperopia, Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome, Macrocephaly, Multiple congenital anomalies-hypotonia-seizures syndrome, Nephrocalcinosis, Nystagmus, Osteopenia, Osteoporosis, Paroxysmal cold hemoglobinuria, Paroxysmal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria, Patent ductus arteriosus, Renal cyst, Restrictive cardiomyopathy, Scoliosis, Strabismus, UrticariaView all (13 more) |
412
|
|
|
Pyruvate dehydrogenase E1 subunit alpha 2 |
PDHAL, SPGF70 |
|
413
|
|
|
Pyruvate dehydrogenase E1 subunit beta |
E1beta, PDHBD, PDHE1-B, PDHE1B, PHE1B |
|
414
|
|
|
Pyruvate dehydrogenase kinase 2 |
PDHK2, PDKII |
|
415
|
|
|
Pyruvate dehydrogenase kinase 3 |
CMTX6, GS1-358P8.4 |
|
416
|
|
|
Peptidyl-tRNA hydrolase 2 |
BIT1, CFAP37, CGI-147, IMNEPD, PTH, PTH 2, PTH2 |
Brachycephaly, Cerebellar atrophy, Congenital clubfoot, Developmental delay, Dwarfism, Dysmorphic features, Exotropia, Fatty liver, Fibrosis of pancreas, Hearing loss, Hypothyroidism, Liver fibrosis, Mental retardation, Multiple congenital anomalies, Multisystem neurologic, endocrine and pancreatic disease, Prostatic neoplasms, Prostate cancerView all (2 more) |
417
|
|
|
Pyruvate dehydrogenase kinase 4 |
- |
|
418
|
|
|
Protein associated with LIN7 2, MAGUK p55 family member |
MPP6, VAM-1, VAM1, p55T |
|
419
|
|
|
3-phosphoinositide dependent protein kinase 1 |
PDK1, PDPK2, PDPK2P, PRO0461 |
|
420
|
|
|
Peptidyl arginine deiminase 3 |
PAD3, PDI3, UHS1 |
|