|
Symbol Name ID |
Prps1
phosphoribosyl pyrophosphate synthetase 1 MGI:97775 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Posterior subcapsular cataract |
Optic atrophy |
Optic disc pallor |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Rod-cone dystrophy |
Hypotelorism |
Abnormal electroretinogram |
Abnormality of eye movement |
Strabismus |
Nystagmus |
Ophthalmoplegia |
Hypermetropia |
Myopia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Blindness |
Peripheral visual field loss |
Visual loss |
Progressive visual loss |
Glaucoma |
Ptosis |
| Disease(s) Associated with PRPS1 | |||||||||||||||||||||||||||||
| Arts syndrome | |||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease X-linked recessive 5 | |||||||||||||||||||||||||||||
| phosphoribosylpyrophosphate synthetase superactivity | |||||||||||||||||||||||||||||
| retinitis pigmentosa |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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