Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ITSN1 | Dog | amyotrophic lateral sclerosis type 1 | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | ITSN1 | Dog | autistic disorder | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | ITSN1 | Dog | autosomal dominant intellectual developmental disorder 7 | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | ITSN1 | Dog | Familial Platelet Disorder with Associated Myeloid Malignancy | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar | PMID:17237124 more ... | ITSN1 | Dog | Generalized Epilepsy | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized-onset seizure | ClinVar | PMID:25741868 | ITSN1 | Dog | genetic disease | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:34707297 | ITSN1 | Dog | immunodeficiency 28 | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 28 | ClinVar | PMID:17237124 more ... | ITSN1 | Dog | nephrotic syndrome | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:25741868 and PMID:29773874 | ITSN1 | Dog | Neurodevelopmental Disorders | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ITSN1 | Dog | Parkinson's disease 20 | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | ITSN1 | Dog | Tracheoesophageal Fistula | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tracheoesophageal fistula | ClinVar | PMID:32641753 | ITSN1 | Dog | ZTTK syndrome | | ISO | ITSN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ZTTK syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
