|
821
|
|
|
Glycogen phosphorylase L |
GSD6 |
|
|
822
|
|
|
Glycogen phosphorylase, muscle associated |
GSD5 |
|
|
823
|
|
|
Pleckstrin homology domain containing B1 |
KPL1, PHR1, PHRET1 |
|
|
824
|
|
|
Prune exopolyphosphatase 1 |
DRES-17, DRES17, H-PRUNE, HTCD37, NMIHBA, PRUNE |
Cerebellar atrophy, Cerebral cortical atrophy, Congenital clubfoot, Developmental delay, Hypoplasia of corpus callosum, Macrotia, Microcephaly, Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, Neurological syndrome, Plagiocephaly, Proptosis, Scoliosis, Spastic tetraparesis |
|
825
|
|
|
Proline dehydrogenase 2 |
HSPOX1, HYPDH |
|
|
826
|
|
|
PZP alpha-2-macroglobulin like |
CPAMD6 |
|
|
827
|
|
|
PR/SET domain 12 |
HSAN8, PFM9 |
|
|
828
|
|
|
Pleckstrin homology domain containing A1 |
TAPP1 |
|
|
829
|
|
|
Peripherin 2 |
AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2 |
Anetoderma, Macular dystrophy, patterned, Cataract, Central areolar choroidal dystrophy, Central areolar choroidal sclerosis, Chorioretinal atrophy, Choroidal dystrophy, Choroideremia, Cone dystrophy, Cone-rod dystrophy, Congenital hypoplasia of penis, Congenital sensorineural hearing loss, Cystoid macular edema, Diabetes mellitus, Disorder of eye, Disorder of macula of retina, Drusen, Dyschromatopsia, Foveomacular vitelliform dystrophy, Full thickness hole of macula lutea, Fundus albipunctatus, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Lenticonus, Macular degeneration, Age-related macular degeneration, Macular dystrophy, Mental retardation, Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus, Multifocal pattern dystrophy simulating fundus flavimaculatus, Night blindness, Nyctalopia, Nystagmus, Obesity, Obsolete peripheral retinopathy, Optic atrophy, Patterned dystrophy of retinal pigment epithelium, Progressive cone dystrophy, Reticular retinal dystrophy, Retinal dystrophy, Retinal nonattachment, Retinitis pigmentosa, Retinitis pigmentosa, digenic, Retinitis punctata albescens, Rod-cone dystrophy, Stargardt disease, Vitelliform macular dystrophyView all (35 more) |
|
830
|
|
|
Phosphopantothenoylcysteine decarboxylase |
MDS018, PPC-DC, coaC |
|
