Table 1 List of dictionaries used in DES-Mutation. References for the data sources indicated are as follows: Bioportal, ChEBI71, Entrez Gene72, MetaboLights73, IntEnz74, T3DB75, Industrially Important Enzymes76, GO77, KEGG78, Reactome79, PANTHER80, UniPathways81, NCBI Taxonomy82, KOBAS83.

From: DES-Mutation: System for Exploring Links of Mutations and Diseases

Dictionary

Enriched Unique Terms in the KB

Source

Chemicals/Compounds

Antibiotics

633

pre-existing in DES

Chemical Entities of Biological Interest (ChEBI)

19,988

pre-existing in DES

Drugs (DrugBank)

4,100

updated

Lipids

2,406

pre-existing in DES

Toxins (T3DB)

1,908

pre-existing in DES

Functional Annotation

Biological Process (GO)

7,716

pre-existing in DES

Cellular Component (GO)

1,913

pre-existing in DES

Molecular Function (GO)

2,640

pre-existing in DES

Pathways (KEGG, Reactome, UniPathway, PANTHER)

1,925

pre-existing in DES

General

ATC Ontology (Bioportal)

1,838

newly compiled

DOID Ontology (Bioportal)

5,147

pre-existing in DES

EGO Ontology (Bioportal)

1,047

newly compiled

HP Ontology (Bioportal)

5,285

newly compiled

Human Anatomy

3,345

pre-existing in DES

ICD9

821

newly compiled

ORDO Ontology (Bioportal)

7,361

newly compiled

PDO Ontology (Bioportal)

286

newly compiled

Genes/Proteins/Transcripts

Archaea Genes (EntrezGene)

6,687

pre-existing in DES

Bacteria Genes (EntrezGene)

45,120

pre-existing in DES

Fungi Genes (EntrezGene)

19,173

pre-existing in DES

Human Genes and Proteins (EntrezGene)

25,617

pre-existing in DES

Mutations (tmVar)

63,413

newly compiled

Viruses Genes (EntrezGene)

6,203

pre-existing in DES

Taxonomy

Archaea (NCBI Taxonomy)

761

pre-existing in DES

Bacteria (NCBI Taxonomy)

13,496

pre-existing in DES

Fungi (NCBI Taxonomy)

7,162

pre-existing in DES

Viruses (NCBI Taxonomy)

4,883

pre-existing in DES