|
Symbol Name ID |
Mthfr
methylenetetrahydrofolate reductase MGI:106639 |
| Darker colors indicate more annotations |
| Human Phenotypes | Bruising susceptibility |
Purpura |
Petechiae |
Spontaneous hematomas |
Preauricular pit |
Redundant neck skin |
Single transverse palmar crease |
Bilateral single transverse palmar creases |
Aplasia/Hypoplasia of the breasts |
Breast carcinoma |
Erythema |
Jaundice |
Prolonged neonatal jaundice |
Fasciitis |
Inflammatory abnormality of the skin |
Eczematoid dermatitis |
Erysipelas |
Skin rash |
Maculopapular exanthema |
Sparse hair |
Abnormality of secondary sexual hair |
Onycholysis |
Hyperhidrosis |
Scaling skin |
Cyanosis |
Prematurely aged appearance |
Lichenoid skin lesion |
Skin erosion |
Cutaneous sclerotic plaque |
Pretibial myxedema |
| Disease(s) Associated with MTHFR | ||||||||||||||||||||||||||||||
| dextro-looped transposition of the great arteries | ||||||||||||||||||||||||||||||
| Down syndrome | ||||||||||||||||||||||||||||||
| factor VIII deficiency | ||||||||||||||||||||||||||||||
| familial Mediterranean fever | ||||||||||||||||||||||||||||||
| graft-versus-host disease | ||||||||||||||||||||||||||||||
| Graves' disease | ||||||||||||||||||||||||||||||
| hypopituitarism | ||||||||||||||||||||||||||||||
| pancreatic cancer | ||||||||||||||||||||||||||||||
| sickle cell anemia | ||||||||||||||||||||||||||||||
| tetralogy of Fallot | ||||||||||||||||||||||||||||||
| thrombocytopenia |
| Mouse Phenotypes | sparse hair |
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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 05/28/2024 MGI 6.13 |
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