Medline - PubMed

Orphanet (deutsch) - Orphanet 

Phenomizer - Phenomizer 

FindZebra - Findzebra

Erkrankungen:
OMIM - Online Inheritance in Man; Human genes and diseases  (NCBI)
Clinical Utility Gene Cards

Gen- und Mutationsdatenbanken  (Locus-specific Mutation Database, LSDB):
Human Genome Variation Society  (HGVS)
Leiden Open Variation Database  (LOVD)
ClinVar - Sequence variation and human disease  (NCBI)
GeneCards  (Gen-relevante Informationen) 
Human Gene Mutation Database  (HGMD; via Login)

Populationsgenetik (Normalvarianz und Bevölkerungsdaten):
1000genomes  (via NCBI)
Exome Variant Server  (EVS), NHLBI GO Exome Sequencing Project
Exome Aggregation Consortium (ExAC), Broad Institute
UCSC Genome Browser
Database of Genomic Variants  (DGV)
Database of Short Genetic Variations  (dbSNP)
CafeVariome