EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.6.1.13 | arginase deficiency |
17513445 |
Biomarkers identified in inborn errors for lysine, arginine, and ornithine. |
causal interaction
unassigned |
4
0 |
| 2.6.1.13 | aromatic-l-amino-acid decarboxylase deficiency |
31930732 |
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 2.6.1.13 | Blindness |
1301936 |
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy. |
causal interaction
unassigned |
4
0 |
| 2.6.1.13 | Blindness |
2793865 |
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. |
causal interaction
unassigned |
4
0 |
| 2.6.1.13 | Blindness |
3417397 |
Expression defect of ornithine aminotransferase gene in gyrate atrophy. |
causal interaction
unassigned |
4
0 |
| 2.6.1.13 | Blindness |
7240420 |
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.6.1.13 | Blindness |
9414260 |
Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients. |
causal interaction
ongoing research
unassigned |
4
4
0 |
| 2.6.1.13 | Blindness |
9514741 |
Crystal structure of human recombinant ornithine aminotransferase. |
causal interaction
unassigned |
2
0 |
| 2.6.1.13 | Blindness |
28345116 |
Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine ?-Aminotransferase. |
causal interaction
unassigned |
3
0 |
| 2.6.1.13 | Blindness |
32418451 |
First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
3
2
0 |
