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Ensembl Variation - Phenotype sources

List of sources providing human phenotype/disease/trait associations

SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
AMDGC 1 The AMD Gene consortium is an international collaboration that seeks to identify genetic loci associated with age-related macular degeneration .
Variation
3 K
Link
Cancer Gene Census 11/2020 Catalog of genes of which mutations have been causally implicated in cancer
Gene
55 K
Link
ClinVar 12/2020 Variants of clinical significance imported from ClinVar
Variation
1 M
Link
COSMIC 92 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
13 M
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
39 K
Link
dbVar 01/2021 NCBI database of human genomic structural variation
SV
721 K
Link
DDG2P 15/01/2021 Developmental Disorders Genotype-to-Phenotype Database
Gene
2 K
Link
DGVa 01/2020 Database of Genomic Variants Archive
SV
128 K
Link
GEFOS 1 The GEnetic Factors for OSteoporosis Consortium international collaboration that seeks to identify common risk gene variants for osteoporosis
Variation
1 K
Link
GIANT 1 The Genetic Investigation of ANthropometric Traits (GIANT) consortium is an international collaboration that seeks to identify genetic loci that modulate human body size and shape, including height and measures of obesity.
Variation
4 K
Link
HGMD-PUBLIC 2020.4 Variants from HGMD-PUBLIC dataset December 2020
Variation
187 K
Link
MAGIC 1 MAGIC (the Meta-Analyses of Glucose and Insulin-related traits Consortium) represents a collaborative effort to combine data from multiple GWAS to identify additional loci that impact on glycemic and metabolic traits
Variation
1 K
Link
MIM morbid 13/01/2021 Online Mendelian Inheritance in Man (OMIM) database
Gene
5 K
Link
NHGRI-EBI GWAS catalog 02/12/2020 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
258 K
Link
Orphanet 01/01/2021 The portal for rare diseases and drugs
Gene
7 K
Link
Teslovich 1 Biological, clinical and population relevance of 95 loci for blood lipids
Variation
7 K
Link