| UMLS CUI | C0025521 |
| UMLS Term | Inborn Errors Of Metabolism |
| MeSH ID | D008661 |
| MeSH Term | Metabolism, Inborn Errors |
| Disease Classes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Nutritional and Metabolic Diseases |
| Gene Symbol | Description | Entrez ID | Uniprot ID | Chromosomal Location |
|---|---|---|---|---|
ABCD4 | ATP binding cassette subfamily D member 4 |
5826 | O14678 | chr14: 74,285,423-74,303,056 |
DHFR | dihydrofolate reductase |
1719 | P00374 | chr5: 80,626,228-80,654,983 |
LDHB | lactate dehydrogenase B |
3945 | P07195 | chr12: 21,635,342-21,757,857 |
LEPR | leptin receptor |
3953 | P48357 | chr1: 65,420,652-65,641,559 |
MYO5B | myosin VB |
4645 | Q9ULV0 | chr18: 49,822,813-50,195,093 |
PLA2G4A | phospholipase A2 group IVA |
5321 | P47712 | chr1: 186,828,953-186,988,981 |
PLA2G7 | phospholipase A2 group VII |
7941 | Q13093 | chr6: 46,704,201-46,735,693 |
SLC2A1 | solute carrier family 2 (facilitated glucose transporter), member 1 |
6513 | P11166 | chr1: 42,925,375-42,959,173 |
TPI1 | triosephosphate isomerase 1 |
7167 | P60174 | chr12: 6,867,119-6,870,948 |