|
1001
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class S |
DEE95, GPIBD18, PIG-S |
Arthrogryposis multiplex congenita, Brachydactyly, Breast cancer, Camptodactyly of fingers, Central visual impairment, Cerebellar atrophy, Cerebral cortical atrophy, Congenital exomphalos, Congenital pectus carinatum, Developmental delay, Glycosylphosphatidylinositol deficiency, Macroglossia, Microcephaly, Nystagmus, Posteriorly rotated ear |
|
1002
|
|
|
POM121 transmembrane nucleoporin like 2 |
POM121-L, POM121L |
|
|
1003
|
|
|
Peroxisomal biogenesis factor 16 |
PBD8A, PBD8B |
Addison`s disease, Adrenoleukodystrophy, Atrophy of corpus callosum, Cardiomyopathy, Cataract, Congenital epicanthus, Cryptorchidism, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Dysarthria, Dysphagia, Facial paralysis, Glaucoma, Glossoptosis, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Leukodystrophy, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Zellweger syndrome, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum disease, Retinal dystrophy, Rod-cone dystrophy, Skeletal dysplasia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (33 more) |
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1004
|
|
|
Protein phosphatase 1 regulatory inhibitor subunit 14A |
CPI-17, CPI17, PPP1INL |
|
|
1005
|
|
|
Protein interacting with PRKCA 1 |
PICK, PRKCABP |
|
|
1006
|
|
|
Phosphate cytidylyltransferase 1B, choline |
CCTB, CTB |
|
|
1007
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class L |
CHIME |
Abnormal dermatoglyphic pattern, Accessory nipple, Amyotrophic lateral sclerosis, Autism, Brachycephaly, Camptodactyly of fingers, Cerebral atrophy, Cerebral cortical atrophy, Chime syndrome, Clinodactyly, Congenital atresia of pulmonary valve, Congenital camptodactyly, Congenital epicanthus, Congenital pectus excavatum, Developmental delay, Esotropia, Frontal bossing, Fundus coloboma, Hearing loss, High palate, Hirschsprung disease, Hydronephrosis, Hyperkeratosis, Hyperopia, Hyperphosphatasia with mental retardation, Hypodontia, Hypoplasia of nipple, Hypotrichosis, Ichthyosis, Mental retardation, Leukemia, Macrostomia, Malocclusion, Microdontia, Micrognathism, Neck webbing, Oculomotor apraxia, Oculovestibuloauditory syndrome, Palmoplantar keratosis, Peripheral pulmonary artery stenosis, Plagiocephaly, Ptosis, Retinal coloboma, Scoliosis, Seizure, Strabismus, Tetralogy of fallot, Transposition of great vessels, Ventricular septal defectView all (34 more) |
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1008
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class B |
DEE80, EIEE80, GPI-MT-III, PIG-B |
|
|
1009
|
|
|
Phosphatidylglycerophosphate synthase 1 |
- |
|
|
1010
|
|
|
Proteasome inhibitor subunit 1 |
PI31 |
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