Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | RGD:11665357 | 9068941 | ClinVar Annotator: match by term: Pseudohypoaldosteronism more ... | ClinVar | | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | RGD:11666070 | 9068941 | ClinVar Annotator: match by term: Pseudohypoaldosteronism more ... | ClinVar | | autosomal recessive pseudohypoaldosteronism type 1 | | ISO | RGD:11665849 | 9068941 | ClinVar Annotator: match by term: Pseudohypoaldosteronism more ... | ClinVar | | Behcet's disease | | ISO | RGD:11560469 | 9068941 | ClinVar Annotator: match by term: Behcet's syndrome | ClinVar | | Behcet's disease | | ISO | RGD:11092857 | 9068941 | ClinVar Annotator: match by term: Behcet's syndrome | ClinVar | PMID:28492532, PMID:28814775 | Behcet's disease | | ISO | RGD:12833706 | 9068941 | ClinVar Annotator: match by term: Behcet's syndrome | ClinVar | PMID:28492532 | bronchiectasis | | ISO | RGD:11666070 | 9068941 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | | bronchiectasis | | ISO | RGD:11665357 | 9068941 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | | bronchiectasis | | ISO | RGD:11665849 | 9068941 | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar | | CHARGE syndrome | | ISO | RGD:15173538 | 9068941 | ClinVar Annotator: match by term: CHARGE association | ClinVar | | COVID-19 | | ISO | RGD:8603102 | 9068941 | ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19 | ClinVar | PMID:22801493 more ... | COVID-19 | | ISO | RGD:11550776 | 9068941 | ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19 | ClinVar | PMID:24033266 more ... | familial Mediterranean fever | | ISO | RGD:11635196 | 9068941 | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar | | familial Mediterranean fever | | ISO | RGD:11665357 | 9068941 | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar | | familial Mediterranean fever | | ISO | RGD:11665849 | 9068941 | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar | | familial Mediterranean fever | | ISO | RGD:11666070 | 9068941 | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar | | Febrile Seizures | | ISO | RGD:8644247 | 9068941 | ClinVar Annotator: match by term: Febrile seizures | ClinVar | PMID:23965844 more ... | genetic disease | | ISO | RGD:8598984 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11443543 | genetic disease | | ISO | RGD:8644187 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16508982 more ... | genetic disease | | ISO | RGD:8644216 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | RGD:14395239 | 9068941 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 | ClinVar | PMID:25378588, PMID:29389098 | multiple sclerosis | | ISO | RGD:8603102 | 9068941 | ClinVar Annotator: match by term: Multiple sclerosis more ... | ClinVar | PMID:22801493 more ... | peroxisome biogenesis disorder 2B | | ISO | RGD:26906232 | 9068941 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | Temtamy syndrome | | ISO | RGD:126922868 | 9068941 | ClinVar Annotator: match by term: Temtamy 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 }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
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
RGD Manual Annotations
Imported Annotations - PID (archival)
Disease Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
|
References