|
51
|
|
|
Protein inhibitor of activated STAT 3 |
ZMIZ5 |
|
|
52
|
|
|
Progesterone immunomodulatory binding factor 1 |
C13orf24, CEP90, JBTS33, PIBF |
Cerebellar vermis agenesis, Congenital cerebral hernia, Congenital coloboma of iris, Developmental delay, Hirschsprung disease, Hydrocephalus, Joubert syndrome, Mental retardation, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Polydactyly of toes, Polymicrogyria, Ptosis, Scoliosis, Situs inversus, StrabismusView all (3 more) |
|
53
|
|
|
Pitrilysin metallopeptidase 1 |
MP1, PreP, SCAR30 |
|
|
54
|
|
|
Prolyl 3-hydroxylase 3 |
GRCB, HSU47926, LEPREL2 |
|
|
55
|
|
|
PPM1K divergent transcript |
- |
|
|
56
|
|
|
Protein C receptor |
CCCA, CCD41, EPCR |
|
|
57
|
|
|
Peroxiredoxin 4 |
AOE37-2, AOE372, HEL-S-97n, PRX-4 |
|
|
58
|
|
|
Protein O-mannosyltransferase 1 |
LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT |
Absence of septum pellucidum, Acquired kyphoscoliosis, Agenesis of corpus callosum, Agyria, Alpha-dystroglycanopathy, Amyotrophy, Anterior segment dysgenesis, Autism, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Cobblestone lissencephaly, Congenital clubfoot, Congenital coloboma of iris, Congenital contracture, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital kyphoscoliosis, Congenital meningocele, Congenital microcephaly, Congenital muscular dystrophy, Congenital muscular dystrophy with cerebellar involvement, Congenital muscular dystrophy with intellectual disability, Congenital muscular dystrophy without intellectual disability, Congenital ocular coloboma, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Facial paralysis, Fukuyama type congenital muscular dystrophy, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Holoprosencephaly, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Imperforate anus, Mental retardation, Left ventricular hypertrophy, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy-dystroglycanopathy, Macrocephaly, Macroglossia, Meningoencephalocele, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Hypotonia, Neuronal heterotopia, Occipital encephalocele, Optic atrophy, Pachygyria, Penis agenesis, Polymicrogyria, Posteriorly rotated ear, Renal dysplasia, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinitis pigmentosa, Scoliosis, Specific learning disorder, Speech disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (66 more) |
|
59
|
|
|
Pre-mRNA processing factor 8 |
HPRP8, PRP8, PRPC8, RP13, SNRNP220 |
Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Disorder of eye, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Ischemic stroke, Keratoconus, Mental retardation, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinal dystrophy, Retinitis pigmentosa, Rod-cone dystrophy, StrokeView all (4 more) |
|
60
|
|
|
PDZ and LIM domain 5 |
ENH, ENH1, L9, LIM |
|
