EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level  |
|---|
    2.9.1.2 | Brain Diseases |
26115735 |
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate. |
causal interaction
unassigned |
3
0 |
| 2.9.1.2 | Brain Diseases |
26805434 |
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. |
causal interaction
unassigned |
4
0 |
| 2.9.1.2 | Cerebellar Ataxia |
29464431 |
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. |
causal interaction
ongoing research
unassigned |
2
1
0 |
| 2.9.1.2 | Hepatitis B, Chronic |
17456317 |
[The significance of anti-soluble liver antigen/liver-pancreas in diagnosing and typing autoimmune hepatitis] |
diagnostic usage
unassigned |
1
0 |
| 2.9.1.2 | Hepatitis, Autoimmune |
16521218 |
Characterization of human gene encoding SLA/LP autoantigen and its conserved homologs in mouse, fish, fly, and worm. |
unassigned |
0 |
| 2.9.1.2 | Liver Cirrhosis, Biliary |
11360449 |
[Presence of SLA/LP autoantibodies in patients with primary biliary cirrhosis as a marker for secondary autoimmune hepatitis (overlap syndrome)] |
causal interaction
diagnostic usage
unassigned |
1
4
0 |
| 2.9.1.2 | Liver Cirrhosis, Biliary |
17456317 |
[The significance of anti-soluble liver antigen/liver-pancreas in diagnosing and typing autoimmune hepatitis] |
diagnostic usage
unassigned |
1
0 |
| 2.9.1.2 | Liver Diseases |
11826415 |
Fine specificity of autoantibodies to soluble liver antigen and liver/pancreas. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 2.9.1.2 | Microcephaly |
29464431 |
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. |
causal interaction
ongoing research
unassigned |
2
1
0 |
| 2.9.1.2 | Neurodegenerative Diseases |
29709707 |
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. |
causal interaction
unassigned |
4
0 |
