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Results 1 - 10 of 48 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151alkylcobalamin 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
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151alkylcobalamin 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
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Anemia, Megaloblastic 23825108 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Avitaminosis 31905202 THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation. causal interaction
unassigned
3
0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Craniofacial Abnormalities 25281006 Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Genetic Diseases, Inborn 26464686 Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. diagnostic usage
therapeutic application
unassigned
3
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Glycogen 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
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Homocystinuria 18164228 Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. therapeutic application
unassigned
1
0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Homocystinuria 18848477 Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ongoing research
unassigned
2
0
Display the word mapDisplay the reaction diagram Show all sequences 2.5.1.151Homocystinuria 19370762 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. causal interaction
unassigned
3
0
Results 1 - 10 of 48 > >>