|
891
|
|
|
Pecanex 2 |
PCNXL2 |
|
|
892
|
|
|
Pantothenate kinase 2 |
C20orf48, HARP, HSS, NBIA1, PKAN |
Abetalipoproteinemia, Abnormal involuntary movement, Akinesia, Attention deficit hyperactivity disorder, Blepharospasm, Choreoathetosis, Cone-rod dystrophy, Degenerative brain disorder, Degenerative diseases, central nervous system, Dementia, Developmental delay, Dysarthria, Dysphagia, Dystonia, Hereditary retinal dystrophy, Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Impaired cognition, Orofacial dyskinesia, Mental depression, Mood swings, Myopathy, Nephropathy with pretibial epidermolysis bullosa and deafness, Neurodegenerative disorders, Obsessive-compulsive disorder, Optic atrophy, Pallidal degeneration, Pantothenate kinase-associated neurodegeneration, Parkinson disease, Pigmentary pallidal degeneration, Psychosis, Retinal diseases, Retinitis pigmentosa, Rod-cone dystrophy, SchizophreniaView all (19 more) |
|
893
|
|
|
Post-GPI attachment to proteins inositol deacylase 1 |
Bst1, ISPD3024, MRT42, NEDDSBA, SPG67 |
Absence of septum pellucidum, Agenesis of corpus callosum, Amyotrophy, Autism, Central visual impairment, Cerebral atrophy, Cerebral cortical atrophy, Cortical dysplasia, Developmental delay, Dwarfism, Dyskinetic syndrome, Dyssomnia, Hypoplasia of corpus callosum, Mental retardation, Macrostomia, Macrotia, Mental depression, Microcephaly, Motor delay, Hypotonia, Non-syndromic intellectual disability, Polymicrogyria, Retinal dystrophy, Salaam seizures, Seizure, Sleep disorders, Spastic paraplegia, Stereotyped behaviorView all (13 more) |
|
894
|
|
|
Prostaglandin E synthase 2 |
C9orf15, GBF-1, GBF1, PGES2, mPGES-2 |
|
|
895
|
|
|
Phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
DEP.2, DEPDC2, P-REX2, PPP1R129 |
|
|
896
|
|
|
Platelet derived growth factor D |
IEGF, MSTP036, SCDGF-B, SCDGFB |
|
|
897
|
|
|
Pseudouridine synthase 1 |
MLASA1 |
Anemia, Breast cancer, Erythroid hyperplasia, Gastric cancer, Glaucoma, High palate, Hypochromic anemia, Limb muscle atrophy, Mental retardation, Microcephaly, Micrognathism, Mitochondrial myopathy, Mitochondrial myopathy and sideroblastic anemia, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Scoliosis, Sideroblastic anemia, Stomach neoplasmsView all (3 more) |
|
898
|
|
|
Patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase |
ADPN, C22orf20, iPLA(2)epsilon |
|
|
899
|
|
|
Programmed cell death 1 ligand 2 |
B7DC, Btdc, CD273, PD-L2, PDCD1L2, PDL2, bA574F11.2 |
|
|
900
|
|
|
Pyruvate dehydrogenase complex component X |
DLDBP, E3BP, OPDX, PDHXD, PDX1, proX |
Congenital epicanthus, Congenital pectus excavatum, Developmental delay, High palate, Mental retardation, Microcephaly, Hypotonia, Optic atrophy, Partial agenesis of corpus callosum, Pyruvate dehydrogenase deficiency, Spastic paraplegia, Spastic quadriplegia, Trigonocephaly |
