|
Symbol Name ID |
Mthfr
methylenetetrahydrofolate reductase MGI:106639 |
| Darker colors indicate more annotations |
| Human Phenotypes | Intracranial hemorrhage |
Intraventricular hemorrhage |
Ischemic stroke |
Aganglionic megacolon |
Anorexia |
Dysphagia |
Decreased response to growth hormone stimulation test |
Ectopic posterior pituitary |
Anterior pituitary agenesis |
Anterior pituitary hypoplasia |
Ectopic anterior pituitary gland |
Hypopituitarism |
Abnormal prolactin level |
Pituitary hypothyroidism |
Optic nerve hypoplasia |
Septo-optic dysplasia |
Meningitis |
Spasticity |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Abnormality of the nervous system |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Agenesis of corpus callosum |
Absent septum pellucidum |
Holoprosencephaly |
Spinal cord compression |
Alzheimer disease |
Neurodegeneration |
Fasciculations |
Paralysis |
Babinski sign |
Dysarthria |
Language impairment |
Depression |
Emotional lability |
Irritability |
Anxiety |
Atypical behavior |
Agitation |
Cognitive impairment |
Frontotemporal dementia |
Intellectual disability |
Sleep abnormality |
Hyperreflexia |
Jaw hyperreflexia |
Gait disturbance |
Developmental regression |
Severe global developmental delay |
Specific learning disability |
Seizure |
Impaired pain sensation |
Paresthesia |
| Disease(s) Associated with MTHFR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| amyotrophic lateral sclerosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Down syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| factor VIII deficiency | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| familial Mediterranean fever | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| graft-versus-host disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hypopituitarism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| multiple myeloma | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| pancreatic cancer | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| sickle cell anemia |
| Mouse Phenotypes | delaminated Purkinje cell layer |
abnormal cerebellar granule layer morphology |
small cerebellum |
|
| 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 06/12/2024 MGI 6.13 |
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