Table 1 Summary of main relationships in the knowledge base

Phenotypic relationships

OMIM-OMIM

Inferred by Genes (OMIM)

1843

2885

OMIM-OMIM

Phenotypic Similarity (HPO)

4627

149689^a

Orphan Disease-Orphan Disease

Inferred by Genes (Orphanet)

1655

3568

Orphan Disease-Orphan Disease

Phenotypic Similarity (HPO)

3068

75924^a

Gene-Gene

Inferred by OMIM (OMIM)

784

3217

Gene-Gene

Inferred by Orphan Disease (Orphanet)

1641

8292

Gene-Gene

Phenotypic Similarity (HPO)

1681

24902^a

Functional relationships

Gene-Gene

Functional Similarity (GO Biological Process)

9123

486982^a

Gene-Gene

Functional Similarity (GO Cellular Component)

6046

565739^a

Gene-Gene

Functional Similarity (GO Molecular Function)

8087

397683^a

Gene-Gene

Protein-protein interactions (STRING)

10316

96856

Gene-Gene

Metabolic interactions [Veeramani and Bader[15]]

535

9812