Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant dyskeratosis congenita 6 | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita and autosomal dominant 6 | ClinVar | PMID:28492532 | congenital hypotrichosis with juvenile macular dystrophy | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10420194 more ... | ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EEM syndrome | ClinVar | PMID:10420194 more ... | fundus dystrophy | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:25741868 | genetic disease | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hereditary diffuse gastric cancer | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary diffuse gastric cancer | ClinVar | PMID:28492532 | hypotrichosis 1 | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis simplex | ClinVar | | macular degeneration | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular dystrophy | ClinVar | PMID:10420194 more ... | prostate cancer | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 and PMID:28492532 | retinitis pigmentosa | | ISO | CDH3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:26306921 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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