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EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Brain Diseases
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
causal interaction
4
Brain Diseases
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
causal interaction
3
Brain Diseases
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
unassigned
0
Brain Diseases
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
unassigned
0
Cerebellar Ataxia
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
unassigned
0
Cerebellar Ataxia
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
ongoing research
1
Cerebellar Ataxia
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
causal interaction
2
Hepatitis B, Chronic
[The significance of anti-soluble liver antigen/liver-pancreas in diagnosing and typing autoimmune hepatitis]
unassigned
0
Hepatitis B, Chronic
[The significance of anti-soluble liver antigen/liver-pancreas in diagnosing and typing autoimmune hepatitis]
ongoing research
1
Hepatitis, Autoimmune
Human SepSecS or SLA/LP: selenocysteine formation and autoimmune hepatitis.
unassigned
0
Results 1 - 10 of 44 > >>