EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
   2.7.3.2 | 4alpha-methylsterol monooxygenase deficiency |
23042573 |
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. |
causal interaction
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
8310805 |
Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. |
causal interaction
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
8697459 |
Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis. |
causal interaction
diagnostic usage
unassigned |
1
1
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10426139 |
A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. |
causal interaction
unassigned |
2
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10465497 |
A case of McLeod syndrome with unusually severe myopathy. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.7.3.2 | Abetalipoproteinemia |
10895256 |
Kell, Kx and the McLeod syndrome. |
causal interaction
diagnostic usage
unassigned |
3
3
0 |
| 2.7.3.2 | Abetalipoproteinemia |
12387450 |
Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 2.7.3.2 | Abetalipoproteinemia |
17683354 |
McLeod syndrome: a neurohaematological disorder. |
causal interaction
unassigned |
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
18785241 |
Chorea-acanthocytosis: report of two Brazilian cases. |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
| 2.7.3.2 | Abetalipoproteinemia |
22027213 |
Neuroacanthocytosis syndromes. |
causal interaction
diagnostic usage
unassigned |
3
4
0 |
