Disease Description

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