EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.3.1.12 | Alzheimer Disease |
10352487 |
Diagnosis of Alzheimer's disease. |
causal interaction
diagnostic usage
unassigned |
3
2
0 |
| 1.3.1.12 | Carcinoma |
22307956 |
Significant overexpression of the Merkel cell polyomavirus (MCPyV) large T antigen in Merkel cell carcinoma. |
diagnostic usage
ongoing research
unassigned |
2
4
0 |
| 1.3.1.12 | Carcinoma, Merkel Cell |
22307956 |
Significant overexpression of the Merkel cell polyomavirus (MCPyV) large T antigen in Merkel cell carcinoma. |
diagnostic usage
ongoing research
unassigned |
2
4
0 |
| 1.3.1.12 | Chordoma |
31504814 |
Emerging Therapeutic Targets in Chordomas: A Review of the Literature in the Genomic Era. |
therapeutic application
unassigned |
3
0 |
| 1.3.1.12 | glycine dehydrogenase (aminomethyl-transferring) deficiency |
11450847 |
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. |
causal interaction
ongoing research
unassigned |
1
3
0 |
| 1.3.1.12 | Hyperglycinemia, Nonketotic |
6336599 |
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. |
diagnostic usage
ongoing research
therapeutic application
unassigned |
4
1
1
0 |
| 1.3.1.12 | Hyperglycinemia, Nonketotic |
8005589 |
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 1.3.1.12 | Hyperglycinemia, Nonketotic |
9600239 |
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. |
ongoing research
unassigned |
1
0 |
| 1.3.1.12 | Hyperglycinemia, Nonketotic |
9621520 |
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. |
causal interaction
ongoing research
unassigned |
3
1
0 |
| 1.3.1.12 | Hyperglycinemia, Nonketotic |
11139253 |
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia. |
therapeutic application
unassigned |
1
0 |
