Species with phenotype
# : 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 phenotype/disease/trait associations for each species - Ensembl 116
Human (Homo sapiens)
73,789
| 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 | 10/2025 | Catalog of genes of which mutations have been causally implicated in cancer |
Gene
62 K
|
|
| ClinVar | 09/2025 | Variants of clinical significance imported from ClinVar |
Variation
4.7 M
|
|
| COSMIC | 102 | Somatic mutations found in human cancers from the COSMIC catalogue |
Variation
14 M
|
|
| dbGaP | 05/2014 | The database of Genotypes and Phenotypes. |
Variation
40 K
|
|
| dbVar | 10/2023 | NCBI database of human genomic structural variation |
SV
109 K
|
|
| DDG2P | 21/10/2022 | Genotype-to-Phenotype Database | - | |
| DGVa | 01/2020 | Database of Genomic Variants Archive |
SV
122 K
|
|
| G2P | 27/10/2025 | Genotype-to-Phenotype Database |
Gene
4 K
|
|
| GEFOS | 1 | The GEnetic Factors for OSteoporosis Consortium international collaboration that seeks to identify common risk gene variants for osteoporosis |
Variation
1 K
|
|
| GenCC | 27/10/2025 | Gene Curation Coalition (gene disease validity assertions) |
Gene
8 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
7 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 | 08/12/2025 | Online Mendelian Inheritance in Man (OMIM) database |
Gene
10 K
|
|
| NHGRI-EBI GWAS catalog | 30/09/2025 | Variants associated with phenotype data from the NHGRI-EBI GWAS catalog |
Variation
1 M
|
|
| Orphanet | 24/06/2025 | 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
|
|
Other species
Cat - Abyssinian (Felis catus_abyssinian)
112
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
113
|
|
Cattle (Bos taurus)
737
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 01/01/2026 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
190 K
|
|
| OMIA | 08/01/2026 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
217
|
|
Chicken (Gallus gallus)
257
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 26/08/2025 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
26 K
|
|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
56
|
|
Dog (Canis lupus_familiaris)
355
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
363
|
|
Dog - Boxer (Canis lupus_familiarisboxer)
354
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
361
|
|
Domestic cat (Felis catus)
99
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
105
|
|
Goat (Capra hircus)
106
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 09/01/2026 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
2 K
|
|
| OMIA | 08/01/2026 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
16
|
|
Horse (Equus caballus)
110
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 26/08/2025 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
2 K
|
|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
56
|
|
Mouse (Mus musculus)
10,641
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| IMPC | 23/04/2025 | International Mouse Phenotyping Consortium |
Gene
44 K
|
|
| MGI | 23/04/2025 | Mouse Genome Informatics |
Gene
211 K
|
|
Norway rat - BN/NHsdMcwi (Rattus norvegicus)
12,272
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| RGD | 05/12/2025 | QTLs from the Rat Genome Database (RGD) |
Gene
99 K
QTL
1 K
|
|
Pig (Sus scrofa)
471
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 26/08/2025 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
51 K
|
|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
81
|
|
Sheep (Ovis aries)
195
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 24/04/2025 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
3 K
|
|
| OMIA | 16/12/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
77
|
|
Sheep - Texel (Ovis aries_texel)
87
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| Animal_QTLdb | 24/04/2025 | The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species |
QTL
687
|
|
| OMIA | 29/04/2025 | Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 200 animal species (other than human and mouse) |
Gene
57
|
|
Zebrafish (Danio rerio)
28,092
| Source | Version | Description | Phenotype/Disease/Trait
Type
Count
e.g.
|
|
|---|---|---|---|---|
| ZFIN | 15/12/2025 | The zebrafish model organism database |
Gene
85 K
|
|