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info Species with phenotype
71
# : New data version(s)
# : New data source(s)
Icons legend
New version of the data
source in this release
for the species
New data source in this
release for the species
Associations count:
greater than 100 million
from 10 to 99.9 million
from 1 million to 9.9 million
from 1,000 to 999,999
less than 1,000

Ensembl Variation - Phenotype sources

List of sources providing human phenotype/disease/trait associations

Human

Human (Homo sapiens)

47,694
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 06/2023 Catalog of genes of which mutations have been causally implicated in cancer
Gene
43 K
Link
ClinVar 06/2023 Variants of clinical significance imported from ClinVar
Variation
2.6 M
Link
COSMIC 98 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 08/2023 NCBI database of human genomic structural variation
SV
738 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
G2P 21/06/2023 Genotype-to-Phenotype Database
Gene
3 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 21/06/2023 Online Mendelian Inheritance in Man (OMIM) database
Gene
5 K
Link
NHGRI-EBI GWAS catalog 03/06/2023 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
576 K
Link
Orphanet 28/11/2022 The portal for rare diseases and drugs
Gene
8 K
Link
Teslovich 1 Biological, clinical and population relevance of 95 loci for blood lipids
Variation
7 K
Link