Clinical Informatics Tool like DAVID

Question

[LauferVA]

Hello Biostars,

Q (2 of 2): This is the second of two related questions; the first is here.

The bioinformatics tool DAVID enables input of a list of genes, and given that input will output enriched ontologies. In other words, if the list of genes you submitted - unbenownst to you - contains far more genes involved in vesicle trafficking than you would expect by chance, that might be found in the enriched ontologies as Output.

I would like to try out some analogous tools for Clinical Informatics. However, instead of inputing a list of genes, I would like to input ICD10 codes, then obtain as output the related, enriched ontologies.

To clarify,

Input:

H67.0, D50.0, I13.1, T78.12, R43.2

Output:

Ontology           Enrichment Score
Sequela of heart failure.   78
Causes of pneumonia.   74
Hypotensive disorders.    72
Infectious processes      67

Does any such tool exist? Does not have to be exactly like this, anything related would be good to peruse.

Thank you very much!

Answer 1

[GenoMax]

HGMD (commercial but may be worth your while) has ICD10 codes mapped: https://digitalinsights.qiagen.com/products-overview/clinical-insights-portfolio/human-gene-mutation-database/

Enrichment can be analyzed by Ingenuity Pathway Analysis (another commercial tool) that may internally link with HGMD considering both are Qiagen products.

[LauferVA]

Thanks GenoMax this is helpful. I will start here.