Any feedback?
Please rate this page
(search_result.php)
(0/150)

BRENDA support

Refine search

Search Disease/ Diagnostics

show results
Refine your search

Search term:

Results 1 - 10 of 46 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Adenocarcinoma 31612050 Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer. causal interaction
diagnostic usage
unassigned
1
2
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 23934111 De novo mutations in epileptic encephalopathies. causal interaction
unassigned
3
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 26482601 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. unassigned 0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 28778787 Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. unassigned 0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 28887793 ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation. causal interaction
ongoing research
unassigned
3
2
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 32681751 Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. causal interaction
unassigned
3
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 33734437 ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. causal interaction
unassigned
3
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Brain Diseases 33807002 The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. unassigned 0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Carcinoma 31612050 Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer. causal interaction
diagnostic usage
unassigned
1
2
0
Show all pathways known for 2.4.1.141Display the word mapDisplay the reaction diagram Show all sequences 2.4.1.141Carcinoma, Squamous Cell 31612050 Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer. causal interaction
diagnostic usage
unassigned
1
2
0
Results 1 - 10 of 46 > >>