info Species with phenotype
8
Cat Cat
1
Cow Cow
1
Dog Dog
1
2
2
2
Pig Pig
2
Rat Rat
1
2
# : New data version(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 111

Human

Human (Homo sapiens)

48,878
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 07/2023 Catalog of genes of which mutations have been causally implicated in cancer
Gene
43 K
Link
ClinVar 06/2023 Variants of clinical significance imported from ClinVar
Variation
2.7 M
Link
COSMIC 98 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
13 M
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40 K
Link
dbVar 07/2023 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 06/07/2023 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 06/07/2023 Online Mendelian Inheritance in Man (OMIM) database
Gene
10 K
Link
NHGRI-EBI GWAS catalog 22/06/2023 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
590 K
Link
Orphanet 22/06/2023 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

Cat (Felis catus)

97
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 25/07/2023 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
98
Link
Chicken

Chicken (Gallus gallus)

250
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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
13 K
Link
OMIA 25/07/2023 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
Cow

Cow (Bos taurus)

700
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 28/12/2022 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 ARS-UCD1.3]
QTL
164 K
Link
OMIA 25/07/2023 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
197
Link
Dog

Dog (Canis lupus_familiaris)

326
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 25/07/2023 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
336
Link
Dog - Boxer

Dog - Boxer (Canis lupus_familiarisboxer)

325
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 25/07/2023 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
333
Link
Goat

Goat (Capra hircus)

41
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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
126
Link
OMIA 25/07/2023 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)

99
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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 25/07/2023 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
48
Link
Mouse

Mouse (Mus musculus)

10,266
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
IMPC 06/07/2023 International Mouse Phenotyping Consortium
Gene
40 K
Link
MGI 06/07/2023 Mouse Genome Informatics
Gene
199 K
Link
Pig

Pig (Sus scrofa)

455
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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
36 K
Link
OMIA 25/07/2023 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
Rat

Rat (Rattus norvegicus)

11,692
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
RGD 30/06/2023 QTLs from the Rat Genome Database (RGD)
QTL
2 K
Link
Gene
140 K
Link
Sheep

Sheep (Ovis aries_rambouillet)

153
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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 25/07/2023 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
Sheep (texel)

Sheep (texel) (Ovis aries)

71
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 22/05/2023 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
86
Link
OMIA 25/07/2023 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
Zebrafish

Zebrafish (Danio rerio)

24,659
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
ZFIN 10/07/2023 The zebrafish model organism database
Gene
84 K
Link