|
Symbol Name ID |
Mthfr
methylenetetrahydrofolate reductase MGI:106639 |
| Darker colors indicate more annotations |
| Human Phenotypes | Broad neck |
Thickened nuchal skin fold |
Redundant neck skin |
Short neck |
Splenomegaly |
Hepatosplenomegaly |
Abnormal abdomen morphology |
Ascites |
Hepatomegaly |
Peritoneal abscess |
Peritonitis |
Umbilical hernia |
Delayed puberty |
Short stature |
Pituitary dwarfism |
Tall stature |
Increased waist to hip ratio |
Failure to thrive |
Small for gestational age |
Weight loss |
Cachexia |
Obesity |
Growth delay |
Severe postnatal growth retardation |
| Disease(s) Associated with MTHFR | ||||||||||||||||||||||||
| amyotrophic lateral sclerosis | ||||||||||||||||||||||||
| chronic myeloid leukemia | ||||||||||||||||||||||||
| coronary artery disease | ||||||||||||||||||||||||
| dextro-looped transposition of the great arteries | ||||||||||||||||||||||||
| Down syndrome | ||||||||||||||||||||||||
| familial mediterranean fever | ||||||||||||||||||||||||
| graft-versus-host disease | ||||||||||||||||||||||||
| Graves' disease | ||||||||||||||||||||||||
| hypopituitarism | ||||||||||||||||||||||||
| multiple myeloma | ||||||||||||||||||||||||
| osteosarcoma | ||||||||||||||||||||||||
| pancreatic cancer | ||||||||||||||||||||||||
| rheumatoid arthritis | ||||||||||||||||||||||||
| sickle cell anemia | ||||||||||||||||||||||||
| type 2 diabetes mellitus |
| Mouse Phenotypes | decreased body weight |
postnatal growth retardation |
|
| 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 04/30/2024 MGI 6.23 |
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