Table 1 Bioinformatic analysis databases and tools

Clinical significance of genomic variants

ClinVar

Relationships between human genomic variations and phenotypes, with supporting evidence

https://www.ncbi.nlm.nih.gov/clinvar

[117]

ClinGen - Clinical Genome Resource

Clinical relevance of human genes and variants

https://clinicalgenome.org

[118]

Human genes and phenotypes

Online Mendelian Inheritance in Man (OMIM)^a

Human genes and genetic phenotypes, Mendelian disorders and phenotype-genotype correlations

https://www.omim.org

[119, 120]

Systems Biology Approaches to ID (SysID)

ID genes description, disease related information and pattern of inheritance, clinical information, protein-protein interactions, specific biological functions and Drosophila orthologues and identified phenotypes

https://www.sysid.dbmr.unibe.ch

[4]

The Human Phenotype Ontology (HPO)

Standardized vocabulary of phenotypic abnormalities encountered in human disease

https://hpo.jax.org/app

[121]

Gene expression patterns

EMBL-EBI Expression Atlas

Gene and protein expression across species and biological conditions, e. g. different tissues, cell types, developmental stages and diseases among others

https://www.ebi.ac.uk/gxa/home

[122]

The Common Fund’s Genotype-Tissue Expression Program (GTEx Program)

Tissue-specific gene expression and regulation

https://www.gtexportal.org/home

[123]

Protein interactions

The Universal Protein Resource (UniProt)

Protein sequence and biological functional information

https://www.uniprot.org

[124]

IntAct Molecular Interaction Database

Molecular interaction data

https://www.ebi.ac.uk/intact/

[125]

Gene/protein functions

GeneCards

Genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes

https://www.genecards.org

[126]