| 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 |
|---|---|---|---|---|
|
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 |
|
ABCD4 |
ATP binding cassette subfamily D member 4 |
5826 |
O14678 |
chr14: 74,285,423-74,303,056 |
|
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 |
|
PLA2G7 |
phospholipase A2 group VII |
7941 |
Q13093 |
chr6: 46,704,201-46,735,693 |