info Species with phenotype
7
2
Dog Dog
1
2
2
2
Pig Pig
2
2
# : 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 115

Human

Human (Homo sapiens)

67,586
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 10/2024 Catalog of genes of which mutations have been causally implicated in cancer
Gene
66 K
Link
ClinVar 02/2025 Variants of clinical significance imported from ClinVar
Variation
3.8 M
Link
COSMIC 101 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
14 M
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40 K
Link
dbVar 10/2023 NCBI database of human genomic structural variation
SV
109 K
Link
DDG2P 21/10/2022 Genotype-to-Phenotype Database -
DGVa 01/2020 Database of Genomic Variants Archive
SV
122 K
Link
G2P 25/03/2025 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
7 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 25/03/2025 Online Mendelian Inheritance in Man (OMIM) database
Gene
10 K
Link
NHGRI-EBI GWAS catalog 08/03/2025 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
801 K
Link
Orphanet 03/12/2024 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

Other species

Cat - Abyssinian

Cat - Abyssinian (Felis catus_abyssinian)

105
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 19/06/2024 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
106
Link
Cattle

Cattle (Bos taurus)

722
SourceVersionDescription 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
164 K
Link
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
208
Link
Chicken

Chicken (Gallus gallus)

256
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 26/08/2024 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
16 K
Link
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
56
Link
Dog

Dog (Canis lupus_familiaris)

349
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
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
356
Link
Dog - Boxer

Dog - Boxer (Canis lupus_familiarisboxer)

348
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
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
355
Link
Domestic cat

Domestic cat (Felis catus)

94
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
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
100
Link
Goat

Goat (Capra hircus)

105
SourceVersionDescription 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
2 K
Link
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
15
Link
Horse

Horse (Equus caballus)

108
SourceVersionDescription 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
2 K
Link
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
53
Link
Mouse

Mouse (Mus musculus)

10,641
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
IMPC 23/04/2025 International Mouse Phenotyping Consortium
Gene
44 K
Link
MGI 23/04/2025 Mouse Genome Informatics
Gene
211 K
Link
Norway rat - BN/NHsdMcwi

Norway rat - BN/NHsdMcwi (Rattus norvegicus)

12,304
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
RGD 18/04/2025 QTLs from the Rat Genome Database (RGD)
QTL
1 K
Link
Gene
135 K
Link
Pig

Pig (Sus scrofa)

464
SourceVersionDescription 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
51 K
Link
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
78
Link
Sheep

Sheep (Ovis aries)

186
SourceVersionDescription 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
Link
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
110
Link
Sheep - Texel

Sheep - Texel (Ovis aries_texel)

New species!
87
SourceVersionDescription 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
Link
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
Link
Zebrafish

Zebrafish (Danio rerio)

27,273
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
ZFIN 29/04/2025 The zebrafish model organism database
Gene
85 K
Link