Israel Science and Technology Directory

Biomedical Databases : Human Mutation Databases

To re-sort the list, click a column heading.

AbbreviationDatabase
OMIM• Online Mendelian Inheritance in Man - Catalog of human genes and genetic disorders
African Genome Variation Project
Amish, Mennonite, and Hutterite Genetic Disorder Database
Androgen Receptor Gene Mutations Database
CFTR2CFTR Variants cystic fibrosis (CF) gene
Chromosome X (ChrX) Markers for forensic purpose
CFTR1Cystic Fibrosis Mutation Database
DECIPHERDatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources - Database incorporates a suite of tools designed to aid the interpretation of genomic variants
dbGaPDatabase of Genotypes and Phenotypes in humans
HbVarDatabase of Human Hemoglobin Variants and Thalassemias
DisGeNETDatabase of human disease-associated genes and variants
DVDDeafness Variation Database
EMMAEuropean Mouse Mutant Archive
FinDisFinnish Disease Database
GADGenetic Association Database
FINDbaseGenome Variation Allele Frequencies Worldwide
HGMDHuman Gene Mutation Database
LSDBLocus-Specific Mutation Databases
MGMDMammalian Gene Mutation Database
Monarch initiative to facilitate identification of animal models of human disease through phenotypic similarity
NLGIPNational Laboratory for the Genetics of Israeli Populations
ClinVarPublic archive of reports of the relationships among human variations and phenotypes
SNPs and genetic variations glossary
dbSNPShort Genetic Variations
Singapore Human Mutation and Polymorphism Database
SwissVarUniProtKB/Swiss-Prot Variant pages with manual annotation of genotype-phenotype relationship
SNPediaWiki on SNPs and genome annotation