Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ADAR | Pig | Aicardi-Goutieres syndrome | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME | ClinVar | PMID:19060901 more ... | ADAR | Pig | Aicardi-Goutieres Syndrome 6 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 | ClinVar | PMID:15146470 more ... | ADAR | Pig | anxiety disorder | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anxiety | ClinVar | PMID:25741868 | ADAR | Pig | autosomal dominant nocturnal frontal lobe epilepsy | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar | PMID:28492532 | ADAR | Pig | benign familial infantile seizures 6 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar | PMID:28492532 | ADAR | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 and PMID:29845577 | ADAR | Pig | colorectal cancer | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | | ADAR | Pig | combined immunodeficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency | ClinVar | PMID:25741868 | ADAR | Pig | combined T cell and B cell immunodeficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital combined immunodeficiency | ClinVar | PMID:25741868 | ADAR | Pig | dyschromatosis symmetrica hereditaria | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities | ClinVar | PMID:12916015 more ... | ADAR | Pig | ectodermal dysplasia | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aplasia cutis congenita | ClinVar | PMID:25741868 more ... | ADAR | Pig | gastrointestinal stromal tumor | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | ADAR | Pig | genetic disease | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15146470 more ... | ADAR | Pig | immunodeficiency 42 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar | PMID:28492532 | ADAR | Pig | learning disability | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific learning disability | ClinVar | PMID:25741868 | ADAR | Pig | MHC class II deficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar | PMID:28492532 | ADAR | Pig | microcephaly | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | ADAR | Pig | parathyroid carcinoma | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | ADAR | Pig | severe congenital neutropenia 3 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar | PMID:17187068 and PMID:28492532 | ADAR | Pig | severe congenital neutropenia 5 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
