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Human (Homo sapiens)
Cat (Felis catus)
Chicken (Gallus gallus)
Cow (Bos taurus)
Dog (Canis lupus_familiaris)
Dog - Boxer (Canis lupus_familiarisboxer)
Goat (Capra hircus)
Horse (Equus caballus)
Mouse (Mus musculus)
Pig (Sus scrofa)
Rat (Rattus norvegicus)
Sheep (Ovis aries_rambouillet)
Sheep - Texel (Ovis aries)
Zebrafish (Danio rerio)

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Species with phenotype

Human

7

Cat

1

Chicken

2

Cow

2

Dog

1

Dog - Boxer

1

Goat

2

Horse

2

Mouse

2

Pig

2

Rat

1

Sheep

2

2

Zebrafish

1

# : New data version(s)

Icons legend

[Top]

	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 113

See documentation for all the variant data sources →

Human (Homo sapiens)

62,332

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	06/2024	Catalog of genes of which mutations have been causally implicated in cancer	Gene 66 K
	ClinVar	04/2024	Variants of clinical significance imported from ClinVar	Variation 3.3 M
	COSMIC	99	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	20/06/2024	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
	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	20/06/2024	Online Mendelian Inheritance in Man (OMIM) database	Gene 10 K
	NHGRI-EBI GWAS catalog	20/05/2024	Variants associated with phenotype data from the NHGRI-EBI GWAS catalog	Variation 698 K
	Orphanet	04/12/2023	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 (Felis catus)

105

Source		Version	Description	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

Chicken (Gallus gallus)

254

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 14 K
	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 56

Cow (Bos taurus)

697

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 163 K
	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 198

Dog (Canis lupus_familiaris)

341

Source		Version	Description	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 348

Dog - Boxer (Canis lupus_familiarisboxer)

341

Source		Version	Description	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 348

Goat (Capra hircus)

77

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	04/05/2024	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 1 K
	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 15

Horse (Equus caballus)

101

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 2 K
	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 50

Mouse (Mus musculus)

10,477

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	IMPC	07/05/2024	International Mouse Phenotyping Consortium	Gene 43 K
	MGI	07/05/2024	Mouse Genome Informatics	Gene 206 K

Pig (Sus scrofa)

447

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 43 K
	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 72

Rat (Rattus norvegicus)

12,137

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	RGD	07/06/2024	QTLs from the Rat Genome Database (RGD)	QTL 2 K Gene 132 K

Sheep (Ovis aries_rambouillet)

168

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 3 K
	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 55

Sheep - Texel (Ovis aries)

84

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	Animal_QTLdb	27/04/2024	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 144
	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 54

Zebrafish (Danio rerio)

25,876

Source		Version	Description	Phenotype/Disease/Trait Type Count e.g.
	ZFIN	18/06/2024	The zebrafish model organism database	Gene 88 K

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