Disease Description

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