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 | ||||||||||||||||||||||||
thrombocytopenia | ||||||||||||||||||||||||
type 2 diabetes mellitus |
Mouse Phenotypes | decreased body weight |
postnatal growth retardation |
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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 08/02/2024 MGI 6.24 |
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