EnsemblEnsembl Home
info Species with phenotype
10
Cat Cat
1
Cow Cow
2
Dog Dog
1
1
1
2
Pig Pig
2
Rat Rat
1
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 10 million
from 1 million to 9.9 million
from 1,000 to 999,999
less than 1,000

Ensembl Variation - Phenotype Sources Documentation

List of sources providing phenotype/disease/trait associations for each species - Ensembl 92

Human

Human (Homo sapiens)

See all human phenotype entries 20,517
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
3,000+
Link
Cancer Gene Census 12/2017 Catalog of genes of which mutations have been causally implicated in cancer
Gene
30,000+
Link
ClinVar 02/2018 Variants of clinical significance imported from ClinVar
SV
4
Link
Variation
335,000+
Link
COSMIC 83 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
4.3 million+
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40,000+
Link
DDG2P 05/02/2018 Developmental Disorders Genotype-to-Phenotype Database
Gene
2,000+
Link
DGVa 01/2018 Database of Genomic Variants Archive
SV
48,000+
Link
GEFOS 1 The GEnetic Factors for OSteoporosis Consortium international collaboration that seeks to identify common risk gene variants for osteoporosis
Variation
1,000+
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
7,000+
Link
HGMD-PUBLIC 2017.4 Variants from HGMD-PUBLIC dataset December 2017 [Remapped from GRCh37]
Variation
139,000+
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
1,000+
Link
MIM morbid 01/02/2018 Online Mendelian Inheritance in Man (OMIM) database
Gene
7,000+
Link
NHGRI-EBI GWAS catalog 16/01/2018 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
74,000+
Link
OMIM 22/01/2018 Variations linked to entries in the Online Mendelian Inheritance in Man (OMIM) database
Variation
24,000+
Link
Orphanet 01/02/2018 The portal for rare diseases and drugs
Gene
7,000+
Link
Teslovich 1 Biological, clinical and population relevance of 95 loci for blood lipids
Variation
7,000+
Link

Others species

Cat

Cat (Felis catus)

See all cat phenotype entries 45
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 05/02/2018 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
46
Link
Chicken

Chicken (Gallus gallus)

See all chicken phenotype entries 216
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 21/12/2017 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species
QTL
4,000+
Link
OMIA 05/02/2018 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
41
Link
Cow

Cow (Bos taurus)

See all cow phenotype entries 527
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 21/12/2017 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species
QTL
100,000+
Link
OMIA 05/02/2018 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
132
Link
Dog

Dog (Canis familiaris)

See all dog phenotype entries 215
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 05/02/2018 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
Link
Goat

Goat (Capra hircus)

New species!
See all goat phenotype entries 2
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 05/02/2018 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
2
Link
Horse

Horse (Equus caballus)

See all horse phenotype entries 80
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
QTL
808
Link
OMIA 05/02/2018 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
35
Link
Macaque

Macaque (Macaca mulatta)

See all macaque phenotype entries 3
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 03/10/2017 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
Mouse

Mouse (Mus musculus)

See all mouse phenotype entries 8,810
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
IMPC 03/12/2017 International Mouse Phenotyping Consortium
Gene
15,000+
Link
MGI 03/12/2017 Mouse Genome Informatics
Gene
139,000+
Link
Pig

Pig (Sus scrofa)

See all pig phenotype entries 333
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 21/12/2017 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species
QTL
17,000+
Link
OMIA 05/02/2018 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
26
Link
Rat

Rat (Rattus norvegicus)

See all rat phenotype entries 8,070
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
RGD 05/01/2018 QTLs from the Rat Genome Database (RGD)
QTL
2,000+
Link
Gene
64,000+
Link
Sheep

Sheep (Ovis aries)

See all sheep phenotype entries 125
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 21/12/2017 The Animal Quantitative Trait Loci (QTL) database (Animal QTLdb) is designed to house all publicly available QTL and association data on livestock animal species
QTL
1,000+
Link
OMIA 05/02/2018 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
41
Link
Turkey

Turkey (Meleagris gallopavo)

See all turkey phenotype entries 28
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 21/10/2016 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
2
Link
Zebrafish

Zebrafish (Danio rerio)

See all zebrafish phenotype entries 15,360
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
ZFIN 04/02/2018 The zebrafish model organism database
Gene
50,000+
Link