EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   2.5.1.151 | Homocystinuria |
33515116 |
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.5.1.151 | Hyperhomocysteinemia |
25511120 |
A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male. |
causal interaction
unassigned |
2
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 | Homocystinuria |
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 | Homocystinuria |
24210589 |
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. |
causal interaction
unassigned |
4
0 |
| 2.5.1.151 | Hyperhomocysteinemia |
24011988 |
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1. |
causal interaction
unassigned |
4
0 |
| 2.5.1.151 | Macular Degeneration |
26658511 |
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. |
causal interaction
unassigned |
2
0 |
| 2.5.1.151 | Homocystinuria |
33804237 |
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Metabolic Diseases |
21748409 |
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. |
causal interaction
unassigned |
3
0 |
| 2.5.1.151 | Homocystinuria |
21835369 |
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
