| Hereditary fructose intolerance syndrome |
C0016751 |
ALDOB
|
Causal
Pathogenic evidence from ClinVar
|
1856829, 1967768, 2336380, 2339710, 2349937, 3383242, 6348085, 7717389, 8071980, 8096362, 8162030, 8292669, 8299883, 8299892, 8438046, 8535439, 8880583, 9610797, 10024431, 10229688, 10625657, 10970798, 11757579, 12205126, 12417303, 12464284, 15532022, 15733923, 15880727, 16406649, 16630753, 17955389, 18035330, 18541450, 19768653, 20033295, 20848650, 20882353, 21228398, 22995991, 23114028, 23430936, 25595217, 26937407, 27604308, 27797444 |
ClinVar |
|
ANO5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20096397, 22402862, 23041008, 23606453, 23663589, 23670307, 25891276 |
- |
