Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Autosomal Recessive Dyskeratosis Congenita | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis Congenita and Recessive | ClinVar | PMID:25741868 | Cerebroretinal Microangiopathy with Calcifications and Cysts 1 | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 | ClinVar | PMID:22267198 more ... | Diamond-Blackfan anemia | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar | PMID:20522432 more ... | dyskeratosis congenita | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:16199547 more ... | genetic disease | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Li-Fraumeni syndrome | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar | PMID:20522432 more ... | very long chain acyl-CoA dehydrogenase deficiency | | ISO | PFAS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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) |
|
||||||||||
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View