EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.2.1.31 | Acidosis, Lactic |
22529283 |
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. |
causal interaction unassigned |
4 0 |
1.2.1.31 | Adenocarcinoma |
33537098 |
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse. |
causal interaction diagnostic usage ongoing research therapeutic application |
4 3 4 1 |
1.2.1.31 | Arthritis |
15331127 |
The importance of timing of adrenergic drug delivery in relation to the induction and onset of adjuvant-induced arthritis. |
diagnostic usage ongoing research unassigned |
2 3 0 |
1.2.1.31 | Asthma |
6254580 |
Prostaglandins, steroids and reception (an attempt to model the structure of the active centers of adrenoreception). |
unassigned |
0 |
1.2.1.31 | Brain Diseases |
17721876 |
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). |
causal interaction unassigned |
4 0 |
1.2.1.31 | Brain Diseases |
21704546 |
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. |
causal interaction diagnostic usage therapeutic application unassigned |
4 2 3 0 |
1.2.1.31 | Brain Diseases |
25818041 |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. |
causal interaction unassigned |
4 0 |
1.2.1.31 | Brain Diseases |
26995068 |
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. |
causal interaction diagnostic usage unassigned |
4 3 0 |
1.2.1.31 | Brain Diseases |
27342130 |
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. |
causal interaction diagnostic usage unassigned |
3 3 0 |
1.2.1.31 | Brain Diseases |
30005813 |
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. |
causal interaction unassigned |
3 0 |