Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Axenfeld-Rieger syndrome type 3 | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 | ClinVar | PMID:11170889 and PMID:21681106 | Bethlem myopathy | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy more ... | ClinVar | PMID:10419498 more ... | Bethlem Myopathy 1A | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10329467 more ... | cataract 9 multiple types | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | Collagen VI-related Myopathy | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Collagen VI-related myopathy | ClinVar | PMID:11707460 more ... | developmental and epileptic encephalopathy 30 | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | genetic disease | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15689448 more ... | homocystinuria | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | myopathy | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:16199547 more ... | primary cerebellar degeneration | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensorimotor neuropathy | ClinVar | PMID:10419498 more ... | primary ciliary dyskinesia | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | progressive myoclonus epilepsy | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | Ullrich congenital muscular dystrophy | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar | | Ullrich Congenital Muscular Dystrophy 1A | | ISO | COL6A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar | PMID:15689448 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