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EnsemblEnsembl Home
info Species with phenotype
6
Cat Cat
1
Cow Cow
1
Dog Dog
1
1
1
2
Pig Pig
1
Rat Rat
1
1
# : 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 101

Human

Human (Homo sapiens)

25,272
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 02/2020 Catalog of genes of which mutations have been causally implicated in cancer
Gene
60 K
Link
ClinVar 03/2020 Variants of clinical significance imported from ClinVar
Variation
729 K
Link
COSMIC 90 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
10 M
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40 K
Link
dbVar 12/2019 NCBI database of human genomic structural variation
SV
601 K
Link
DDG2P 20/04/2020 Developmental Disorders Genotype-to-Phenotype Database
Gene
2 K
Link
DGVa 01/2020 Database of Genomic Variants Archive
SV
122 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 2019.4 Variants from HGMD-PUBLIC dataset December 2019
Variation
168 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 20/04/2020 Online Mendelian Inheritance in Man (OMIM) database
Gene
9 K
Link
NHGRI-EBI GWAS catalog 08/03/2020 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
214 K
Link
Orphanet 20/04/2020 The portal for rare diseases and drugs
Gene
7 K
Link
Teslovich 1 Biological, clinical and population relevance of 95 loci for blood lipids
Variation
7 K
Link

Other species

Cat

Cat (Felis catus)

63
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 23/04/2020 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
64
Link
Chicken

Chicken (Gallus gallus)

225
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/08/2018 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species [remapped to GRCg6a]
QTL
5 K
Link
OMIA 23/04/2020 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
47
Link
Chimpanzee

Chimpanzee (Pan troglodytes)

1
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 23/04/2020 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
1
Link
Cow

Cow (Bos taurus)

549
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 31/12/2019 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
97 K
Link
OMIA 23/04/2020 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
154
Link
Dog

Dog (Canis lupus_familiaris)

257
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 23/04/2020 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
258
Link
Goat

Goat (Capra hircus)

11
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 23/04/2020 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
11
Link
Horse

Horse (Equus caballus)

88
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 26/08/2017 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species [remapped to EquCab3.0]
QTL
808
Link
OMIA 23/04/2020 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
44
Link
Macaque

Macaque (Macaca mulatta)

7
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 23/04/2020 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
7
Link
Mouse

Mouse (Mus musculus)

9,407
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
IMPC 23/02/2020 International Mouse Phenotyping Consortium
Gene
21 K
Link
MGI 23/02/2020 Mouse Genome Informatics
Gene
156 K
Link
Pig

Pig (Sus scrofa)

394
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 31/12/2019 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
20 K
Link
OMIA 23/04/2020 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
34
Link
Rat

Rat (Rattus norvegicus)

10,400
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
RGD 17/04/2020 QTLs from the Rat Genome Database (RGD)
Gene
89 K
Link
QTL
2 K
Link
Sheep (texel)

Sheep (texel) (Ovis aries)

172
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 31/12/2019 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 23/04/2020 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
51
Link
Turkey

Turkey (Meleagris gallopavo)

29
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
GOA 18/10/2016 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
39
Link
OMIA 23/04/2020 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
3
Link
Zebrafish

Zebrafish (Danio rerio)

20,144
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
ZFIN 23/04/2020 The zebrafish model organism database
Gene
70 K
Link
HASH(0x313feb78)