|
621
|
|
|
Protein phosphatase 3 catalytic subunit alpha |
ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B |
Arthrogryposis multiplex congenita, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Attention deficit hyperactivity disorder, Autism, Brachydactyly, Cerebral atrophy, Craniosynostosis, Developmental delay, Developmental regression, Dwarfism, Dyskinetic syndrome, Epileptic encephalopathy, Gastroesophageal reflux disease, Hepatolenticular degeneration, Hydronephrosis, Hypodontia, Language disorders, Left ventricular hypertrophy, Lung adenocarcinoma, Mental retardation, Microcephaly, Micrognathism, Multiple congenital anomalies, Myoclonic seizures, Non-specifi epileptic encephalopathy, Non-syndromic intellectual disability, Nystagmus, Optic atrophy, Ovarian epithelial carcinoma, Pancreatitis, Plagiocephaly, Prostatic neoplasms, Prostate cancer, Ptosis, Seizure, Status epilepticus, Talipes, Testicular diseases, Trigonocephaly, Vesicoureteral reflux, VitiligoView all (26 more) |
|
622
|
|
|
Phosphatidylinositol 4-kinase type 2 beta |
PI4KIIB, PIK42B |
|
|
623
|
|
|
PRR5-ARHGAP8 readthrough |
- |
|
|
624
|
|
|
Protein phosphatase 3 catalytic subunit beta |
CALNA2, CALNB, CNA2, PP2Bbeta |
|
|
625
|
|
|
Protein phosphatase 3 catalytic subunit gamma |
CALNA3, CNA3, PP2Bgamma |
|
|
626
|
|
|
Protein phosphatase 3 regulatory subunit B, alpha |
CALNB1, CNB, CNB1 |
|
|
627
|
|
|
Protein phosphatase 5 catalytic subunit |
PP5, PPP5, PPT |
|
|
628
|
|
|
P53-induced death domain protein 1 |
LRDD, MRT75, PIDD |
|
|
629
|
|
|
Protein phosphatase 6 catalytic subunit |
PP6, PP6C |
|
|
630
|
|
|
Palmitoyl-protein thioesterase 1 |
CLN1, INCL, PPT |
Cerebellar cortical atrophy, Cerebral atrophy, Developmental delay, Disorder of eye, Dyssomnia, Hallucinations, Mental retardation, Age-related macular degeneration, Mental depression, Movement disorders, Neuronal ceroid lipofuscinosis, Optic atrophy, Rod-cone dystrophy, Sleep disorders |
