Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | autistic disorder | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | autosomal hemophilia A | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mild hemophilia A | ClinVar | PMID:29357978 | Bardet-Biedl syndrome 2 | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 | ClinVar | | Barth syndrome | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | blood coagulation disease | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of coagulation | ClinVar | PMID:1301932 more ... | cerebral creatine deficiency syndrome 1 | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | cerebral palsy | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | factor VIII deficiency | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10215414 more ... | favism | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | genetic disease | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18691168 more ... | hemophilia B | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10338101 more ... | Hemorrhage | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemorrhage | ClinVar | PMID:11442643 more ... | hemorrhagic disease | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 and PMID:31064749 | immunodeficiency 33 | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | Leber congenital amaurosis | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar | PMID:22117735 more ... | microcephaly | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | paraplegia | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:10480214 more ... | Splenomegaly | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | X-Linked Thrombophilia due to Factor VIII Defect | | ISO | F8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: THROMBOPHILIA more ... | ClinVar | PMID:11179760 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
Molecular Pathway Annotations Click to see Annotation Detail View