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 (Homo sapiens)
47,694
| Source | Version | Description | 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
|
|
| Cancer Gene Census | 06/2023 | Catalog of genes of which mutations have been causally implicated in cancer |
Gene
43 K
|
|
| ClinVar | 06/2023 | Variants of clinical significance imported from ClinVar |
Variation
2.6 M
|
|
| COSMIC | 98 | Somatic mutations found in human cancers from the COSMIC catalogue |
Variation
13 M
|
|
| dbGaP | 05/2014 | The database of Genotypes and Phenotypes. |
Variation
39 K
|
|
| dbVar | 08/2023 | NCBI database of human genomic structural variation |
SV
738 K
|
|
| DDG2P | 15/01/2021 | Developmental Disorders Genotype-to-Phenotype Database |
Gene
2 K
|
|
| DGVa | 01/2020 | Database of Genomic Variants Archive |
SV
128 K
|
|
| G2P | 21/06/2023 | Genotype-to-Phenotype Database |
Gene
3 K
|
|
| GEFOS | 1 | The GEnetic Factors for OSteoporosis Consortium international collaboration that seeks to identify common risk gene variants for osteoporosis |
Variation
1 K
|
|
| 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
|
|
| HGMD-PUBLIC | 2020.4 | Variants from HGMD-PUBLIC dataset December 2020 |
Variation
187 K
|
|
| 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
|
|
| MIM morbid | 21/06/2023 | Online Mendelian Inheritance in Man (OMIM) database |
Gene
5 K
|
|
| NHGRI-EBI GWAS catalog | 03/06/2023 | Variants associated with phenotype data from the NHGRI-EBI GWAS catalog |
Variation
576 K
|
|
| Orphanet | 28/11/2022 | The portal for rare diseases and drugs |
Gene
8 K
|
|
| Teslovich | 1 | Biological, clinical and population relevance of 95 loci for blood lipids |
Variation
7 K
|
|