Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GM2 Gangliosidosis, AB variant | | IAGP | RGD:8555609 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:8900233 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:38598239 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903531 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28889532 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903307 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28889541 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28893096 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28893100 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892796 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892786 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899865 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892792 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903295 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:15127094 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:28492532 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892478 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899873 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903303 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28893092 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903807 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899604 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892486 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903534 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903302 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28889239 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892477 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903536 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28889538 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899608 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892789 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:14707906 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:28492532 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903528 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28903299 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28892482 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899869 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:28899600 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11590696 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:28492532 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:13618043 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:28492532 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11591582 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594476 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11591183 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:8555610 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:10364519 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11598380 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11596745 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11589646 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11647236 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11662812 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11582363 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11588427 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11598363 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594190 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11592723 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11592712 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11590964 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:8555607 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:8244332 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11653617 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11598487 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11549808 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11664135 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11549139 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11584355 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11592615 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11586387 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11654357 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11587675 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11587447 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11595374 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11596142 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11590453 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11597570 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11583168 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:9688365 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11635479 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11585521 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11584139 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:9850300 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25558065, PMID:26203402 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:8555608 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:8900233 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11591059 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11597771 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11658758 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11582625 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11593389 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:12743366 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:9688685 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594117 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11589807 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11595623 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11653217 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:8555606 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:1570834 more ... | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11649333 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:26907248 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:28492532 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594302 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11595878 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11588579 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11583959 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11597426 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11662296 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11587705 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594005 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11594792 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11586751 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:14396531 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11663664 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:12743339 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | GM2 Gangliosidosis, AB variant | | IAGP | RGD:9688366 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | PMID:25741868 | GM2 Gangliosidosis, AB variant | | IAGP | RGD:11593279 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease, variant AB | ClinVar | | Hereditary Neoplastic Syndromes | | IAGP | RGD:13487787 | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:28492532 | neurodegenerative disease | | IAGP | RGD:9850300 | 8554872 | ClinVar Annotator: match by term: Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy | ClinVar | PMID:25558065, PMID:26203402 | Tay-Sachs disease | | IAGP | RGD:8574323 | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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 - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Human Phenotype
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
|
References
References - curated
| 1. | Chen B, etal., Am J Hum Genet. 1999 Jul;65(1):77-87. |
| 2. | GOA_HUMAN data from the GO Consortium |
| 3. | OMIM Disease Annotation Pipeline |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
| PMID:115863 | PMID:1427911 | PMID:1554364 | PMID:1915857 | PMID:1915858 | PMID:2059210 | PMID:2209618 | PMID:2753159 | PMID:3935131 | PMID:6724528 | PMID:6848657 | PMID:8125298 |
| PMID:8244332 | PMID:8288250 | PMID:8503891 | PMID:8900233 | PMID:9204879 | PMID:9217013 | PMID:9568910 | PMID:10752311 | PMID:10987359 | PMID:11090283 | PMID:11508694 | PMID:11672434 |
| PMID:12477932 | PMID:12576516 | PMID:12909021 | PMID:14728689 | PMID:15485660 | PMID:15489334 | PMID:16341674 | PMID:17215249 | PMID:18029348 | PMID:18976975 | PMID:19056867 | PMID:19322201 |
| PMID:20301334 | PMID:20379614 | PMID:21036149 | PMID:21331553 | PMID:21784073 | PMID:21873635 | PMID:23376485 | PMID:23483939 | PMID:23533145 | PMID:23568457 | PMID:25324306 | PMID:25468996 |
| PMID:25816011 | PMID:26175473 | PMID:26186194 | PMID:27002480 | PMID:27157270 | PMID:27173435 | PMID:27402091 | PMID:28514442 | PMID:31536960 | PMID:31578452 |
Genomics
