|
Symbol Name ID |
Mthfr
methylenetetrahydrofolate reductase MGI:106639 |
| Darker colors indicate more annotations |
| Human Phenotypes | Blepharitis |
Abnormality of the eye |
Keratoconus |
Cataract |
Nuclear cataract |
Brushfield spots |
Increased cup-to-disc ratio |
Optic nerve hypoplasia |
Septo-optic dysplasia |
Retinoblastoma |
Retinopathy |
Deeply set eye |
Proptosis |
Ocular hypertension |
Strabismus |
Nystagmus |
Myopia |
Photophobia |
Amblyopia |
Constriction of peripheral visual field |
Glaucomatous visual field defect |
Open angle glaucoma |
Inflammatory abnormality of the eye |
Decreased lacrimation |
| Disease(s) Associated with MTHFR | ||||||||||||||||||||||||
| cataract | ||||||||||||||||||||||||
| Down syndrome | ||||||||||||||||||||||||
| graft-versus-host disease | ||||||||||||||||||||||||
| Graves' disease | ||||||||||||||||||||||||
| hypopituitarism | ||||||||||||||||||||||||
| migraine | ||||||||||||||||||||||||
| open-angle glaucoma | ||||||||||||||||||||||||
| osteosarcoma | ||||||||||||||||||||||||
| sickle cell anemia | ||||||||||||||||||||||||
| tetralogy of Fallot |
| Mouse Phenotypes | exophthalmos |
|
| Availability | Mouse Genotype | |
| Mthfrtm1Rzn/Mthfrtm1Rzn | ||
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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