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info Species with phenotype
9
Cat Cat
Cow Cow
2
Dog Dog
1
2
Pig Pig
1
Rat Rat
1
2
# : New data version(s)
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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 90

Human

Human (Homo sapiens)

See all human phenotype entries 18,693
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 30/05/2017 Catalog of genes of which mutations have been causally implicated in cancer
Gene
17,000+
Link
ClinVar 06/2017 Variants of clinical significance imported from ClinVar
SV
22,000+
Link
Variation
296,000+
Link
COSMIC 81 Somatic mutations found in human cancers from the COSMIC catalogue
Variation
3.6 million+
Link
dbGaP 05/2014 The database of Genotypes and Phenotypes.
Variation
40,000+
Link
DDG2P 04/07/2017 Developmental Disorders Genotype-to-Phenotype Database
Gene
2,000+
Link
DGVa 06/2017 Database of Genomic Variants Archive
SV
46,000+
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 2016.4 Variants from HGMD-PUBLIC dataset December 2016. Projected to GRCh38
Variation
124,000+
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 04/07/2017 Online Mendelian Inheritance in Man (OMIM) database
Gene
7,000+
Link
NHGRI-EBI GWAS catalog 26/06/2017 Variants associated with phenotype data from the NHGRI-EBI GWAS catalog
Variation
47,000+
Link
OMIM 01/06/2017 Variations linked to entries in the Online Mendelian Inheritance in Man (OMIM) database
Variation
23,000+
Link
Orphanet 01/07/2017 The portal for rare diseases and drugs
Gene
6,000+
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 51
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 05/01/2017 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
55
Link
Chicken

Chicken (Gallus gallus)

See all chicken phenotype entries 789
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 27/04/2017 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
6,000+
Link
GOA 18/10/2016 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
643
Link
OMIA 31/05/2017 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
45
Link
Chimpanzee

Chimpanzee (Pan troglodytes)

See chimpanzee phenotype entry 1
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
OMIA 30/03/2015 Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in more than 135 animal species (other than human and mouse)
Gene
1
Link
Cow

Cow (Bos taurus)

See all cow phenotype entries 771
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 27/04/2017 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
97,000+
Link
GOA 18/10/2016 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
130
Link
OMIA 31/05/2017 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
129
Link
Dog

Dog (Canis familiaris)

See all dog phenotype entries 232
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
GOA 11/10/2015 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
22
Link
OMIA 31/05/2017 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
226
Link
Horse

Horse (Equus caballus)

See all horse phenotype entries 83
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 27/04/2017 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 31/05/2017 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
38
Link
Macaque

Macaque (Macaca mulatta)

See all macaque phenotype entries 7
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
GOA 12/08/2016 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
8
Link
OMIA 27/07/2016 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
3
Link
Mouse

Mouse (Mus musculus)

See all mouse phenotype entries 8,258
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
IMPC 02/08/2016 International Mouse Phenotyping Consortium
Gene
12,000+
Link
MGI 02/08/2016 Mouse Genome Informatics
Gene
129,000+
Link
Pig

Pig (Sus scrofa)

See all pig phenotype entries 623
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 27/04/2017 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
15,000+
Link
GOA 11/10/2015 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
2
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
30
Link
Rat

Rat (Rattus norvegicus)

See all rat phenotype entries 7,631
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
RGD 05/06/2017 QTLs from the Rat Genome Database (RGD)
QTL
2,000+
Link
Gene
62,000+
Link
Sheep

Sheep (Ovis aries)

See all sheep phenotype entries 277
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
Animal_QTLdb 27/04/2017 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
GOA 10/10/2016 Inferred from Mutant Phenotype (IMP), annotated by Gene Ontology Annotation
Gene
11
Link
OMIA 31/05/2017 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
49
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 14,252
SourceVersionDescription Phenotype/Disease/Trait
Type
Count
e.g.
ZFIN 28/06/2017 The zebrafish model organism database
Gene
43,000+
Link