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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 09/2019 Catalog of genes of which mutations have been causally implicated in cancer
Gene
30 K
Link
ClinVar 09/2019 Variants of clinical significance imported from ClinVar
Variation
686 K
Link
COSMIC 90 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
10 M
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40 K
Link
dbVar 10/2019 NCBI database of human genomic structural variation
SV
83 K
Link
DDG2P 10/10/2019 Developmental Disorders Genotype-to-Phenotype Database
Gene
2 K
Link
DGVa 01/2019 Database of Genomic Variants Archive
SV
48 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
7 K
Link
HGMD-PUBLIC 2018.4 Variants from HGMD-PUBLIC dataset December 2018
Variation
152 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 10/10/2019 Online Mendelian Inheritance in Man (OMIM) database
Gene
8 K
Link
NHGRI-EBI GWAS catalog 24/09/2019 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
190 K
Link
Orphanet 01/10/2019 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