Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | COACH syndrome | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome with ocular defect | ClinVar | PMID:15322546 more ... | cone-rod dystrophy | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15322546 more ... | cone-rod dystrophy | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rod-cone dystrophy | ClinVar | PMID:15322546 more ... | Developmental Disabilities | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:15322546 more ... | Eye Abnormalities | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | ClinVar | PMID:28041643 | Familial Behcet-Like Autoinflammatory Syndrome | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoinflammatory syndrome more ... | ClinVar | PMID:25741868 | fundus dystrophy | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:15322546 more ... | genetic disease | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15322546 more ... | intellectual disability | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:16453322 more ... | Joubert syndrome | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15322546 more ... | Joubert syndrome 1 | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15322546 more ... | Joubert syndrome 1 | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15322546 more ... | Joubert syndrome 1 | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15322546 more ... | Joubert syndrome 3 | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar | PMID:15322546 more ... | Leber congenital amaurosis | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:15322546 more ... | nephronophthisis | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephronophthisis | ClinVar | PMID:15322546 more ... | retinitis pigmentosa | | ISO | AHI1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:15322546 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) |
|
||||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function