|
941
|
|
|
PPFI scaffold protein A2 |
- |
|
|
942
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class Y |
HPMRS6, PIG-Y |
Accessory nipple, Autism, Brachycephaly, Central visual impairment, Clinodactyly, Congenital epicanthus, Congenital pectus excavatum, Developmental delay, Developmental regression, Echogenic bowel, Elbow flexion contracture, Esotropia, Glycosylphosphatidylinositol deficiency, High palate, Hip contracture, Hirschsprung disease, Hydronephrosis, Hyperopia, Hyperphosphatasia with mental retardation, Mental retardation, Macrostomia, Malocclusion, Microcephaly, Micrognathism, Oculomotor apraxia, Oculovestibuloauditory syndrome, Osteopenia, Plagiocephaly, Scoliosis, Seizure, Strabismus, Syndactyly of the toesView all (17 more) |
|
943
|
|
|
5-phosphohydroxy-L-lysine phospho-lyase |
AGXT2L2, PHLU |
|
|
944
|
|
|
Plakophilin 4 |
p0071 |
|
|
945
|
|
|
Peroxisomal biogenesis factor 3 |
PBD10A, PBD10B, TRG18 |
Addison`s disease, Adrenoleukodystrophy, Cardiomyopathy, Cataract, Congenital epicanthus, Cryptorchidism, Developmental delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing loss, High palate, Hydronephrosis, Hypertrophy of clitoris, Hypospadias, Ichthyosis, Impaired cognition, Infantile refsum disease, Liver failure, Macrocephaly, Malabsorption syndrome, Malformation of cortical development, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nephrocalcinosis, Neurogenic urinary bladder, Nyctalopia, Nystagmus, Optic atrophy, Osteochondrodysplasia, Zellweger syndrome, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ear, Ptosis, Refsum disease, Rod-cone dystrophy, Skeletal dysplasia, Spastic paraplegia, Strabismus, Ventricular septal defect, Zellweger-like syndromeView all (30 more) |
|
946
|
|
|
Peptidylprolyl isomerase like 4 |
HDCME13P |
|
|
947
|
|
|
Progestin and adipoQ receptor family member 8 |
C6orf33, LMPB1, MPRB |
|
|
948
|
|
|
Pirin |
- |
|
|
949
|
|
|
Protein serine kinase H2 |
- |
|
|
950
|
|
|
Protein inhibitor of activated STAT 1 |
DDXBP1, GBP, GU/RH-II, ZMIZ3 |
|
