|
171
|
|
|
Primase and DNA directed polymerase |
CCDC111, MYP22, Primpol1 |
|
|
172
|
|
|
Protein disulfide isomerase like, testis expressed |
PDIA7 |
|
|
173
|
|
|
Protein tyrosine kinase 2 beta |
CADTK, CAKB, FADK2, FAK2, PKB, PTK, PYK2, RAFTK |
|
|
174
|
|
|
Serine protease 54 |
CT67, KLKBL4 |
|
|
175
|
|
|
Peptidase inhibitor 16 |
CD364, CRISP9, MSMBBP, PSPBP |
|
|
176
|
|
|
Phosphatase and actin regulator 1 |
DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2 |
Cerebral cortical atrophy, Common migraine, Coronary arteriosclerosis, Coronary artery disease, Coronary heart disease, Cryptorchidism, Developmental delay, Developmental regression, Epileptic encephalopathy, Leukemia, Mental depression, Mental retardation, Microcephaly, Microstomia, Migraine, Myocardial infarction, Spasms syndrome, Stroke, West syndromeView all (4 more) |
|
177
|
|
|
PX domain containing 1 |
C6orf145 |
|
|
178
|
|
|
Peroxisomal testis enriched protein 1 |
STEPP |
|
|
179
|
|
|
Pleckstrin homology like domain family A member 1 |
DT1P1B11, PHRIP, TDAG51 |
|
|
180
|
|
|
Poly(U) binding splicing factor 60 |
FIR, RoBPI, SIAHBP1, VRJS |
8q24.3 microdeletion syndrome, Aortic coarctation, Atrioventricular septal defect, Attention deficit hyperactivity disorder, Bilateral renal hypoplasia, Branchioma, Camptodactyly of fingers, Cerebral atrophy, Clinodactyly, Renal agenesis, Developmental dysplasia of the hip, Congenital epicanthus, Hypoplastic aortic arch, Short femur, Congenital ocular coloboma, Congenital pectus excavatum, Developmental delay, Dwarfism, Dysmorphic features, Dysphagia, Exocrine pancreatic insufficiency, Exotropia, Fundus coloboma, Gastroesophageal reflux disease, Tourette syndrome, Heart septal defects, Hemifacial hypoplasia, Hyperopia, Hypertrichosis, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome, Isolated somatotropin deficiency, Mental retardation, Mesothelioma, Microcephaly, Micrognathism, Micromelia, Microphthalmos, Multiple congenital anomalies, Myopia, Partial or complete agenesis of corpus callosum, Patent ductus arteriosus, Pelvic kidney, Penile hypospadias, Persistent truncus arteriosus, Polydactyly, Posteriorly rotated ear, Ptosis, Radial polydactyly, Renal aplasia, Renal cyst, Renal hypoplasia, Retinal coloboma, Scoliosis, Spina bifida occulta, Strabismus, Strawberry nevus of skin, Submucosal cleft palate, Supernumerary mesiodens tooth, Talipes, Thymus hyperplasia, Ventricular septal defect, Chromosome 8q24.3 deletion syndrome, Vertical talus, Vesicoureteral refluxView all (51 more) |
