UMLS CUI | C0598608 |
UMLS Term | Hyperhomocysteinemia |
MeSH ID | D020138 |
MeSH Term | Hyperhomocysteinemia |
Disease Classes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Nutritional and Metabolic Diseases |
Gene Symbol | Description | Entrez ID | Uniprot ID | Chromosomal Location |
---|---|---|---|---|
SLC46A1 |
solute carrier family 46 (folate transporter), member 1 |
113235 |
Q96NT5 |
chr17: 28,394,756-28,407,197 |
DES |
desmin |
1674 |
P17661 |
chr2: 219,418,377-219,426,739 |
PYCARD |
PYD and CARD domain containing |
29108 |
Q9ULZ3 |
chr16: 31,201,485-31,203,450 |
MTHFR |
methylenetetrahydrofolate reductase (NAD(P)H) |
4524 |
P42898 |
chr1: 11,785,723-11,806,920 |
PON1 |
paraoxonase 1 |
5444 |
P27169 |
chr7: 95,297,676-95,324,707 |
TNF |
tumor necrosis factor |
7124 |
P01375 |
chr6: 31,575,567-31,578,336 |
CASP1 |
caspase 1 |
834 |
P29466 |
chr11: 105,025,443-105,035,250 |
CBS |
cystathionine-beta-synthase |
875 |
P35520 |
chr21: 43,053,191-43,076,943 |