Dataset | CTD Gene-Disease Associations |
Category | disease or phenotype associations |
Type | disease |
Description | Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. (Orphanet Rare Disease Ontology, Orphanet_49827) |
External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C536510 |
Similar Terms | |
Downloads & Tools |
1 genes/proteins associated with the disease Thiamine responsive megaloblastic anemia syndrome from the curated CTD Gene-Disease Associations dataset.
Symbol | Name | Standardized Value |
---|---|---|
SLC19A2 | solute carrier family 19 (thiamine transporter), member 2 | 2.88009 |