EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.5.1.151 | alkylcobalamin dealkylase deficiency |
32186706 |
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology. |
causal interaction therapeutic application unassigned |
4 1 0 |
2.5.1.151 | alkylcobalamin dealkylase deficiency |
34147638 |
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. |
causal interaction therapeutic application unassigned |
3 1 0 |
2.5.1.151 | Anemia, Megaloblastic |
23825108 |
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. |
unassigned |
0 |
2.5.1.151 | Avitaminosis |
31905202 |
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation. |
causal interaction unassigned |
3 0 |
2.5.1.151 | Craniofacial Abnormalities |
25281006 |
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. |
unassigned |
0 |
2.5.1.151 | Genetic Diseases, Inborn |
26464686 |
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. |
diagnostic usage therapeutic application unassigned |
3 1 0 |
2.5.1.151 | Glycogen Storage Disease Type VI |
24974159 |
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. |
causal interaction diagnostic usage ongoing research unassigned |
1 4 1 0 |
2.5.1.151 | Homocystinuria |
18164228 |
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. |
therapeutic application unassigned |
1 0 |
2.5.1.151 | Homocystinuria |
18848477 |
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. |
ongoing research unassigned |
2 0 |
2.5.1.151 | Homocystinuria |
19370762 |
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. |
causal interaction unassigned |
3 0 |