Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | macular corneal dystrophy | | IAGP | | 7240710 | | OMIM | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
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) |
|
||||||||
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
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
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
| # | Reference Title | Reference Citation |
| 1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
| PMID:1433500 | PMID:8419650 | PMID:8644739 | PMID:10913333 | PMID:11017086 | PMID:11087716 | PMID:11139648 | PMID:11181564 | PMID:11278593 | PMID:11352640 | PMID:11818380 | PMID:12218059 |
| PMID:12477932 | PMID:12824236 | PMID:12882769 | PMID:12882775 | PMID:12883341 | PMID:14609920 | PMID:14735064 | PMID:14984470 | PMID:15013869 | PMID:15220337 | PMID:15489334 | PMID:15652851 |
| PMID:15953452 | PMID:16207214 | PMID:16568029 | PMID:17093400 | PMID:17690104 | PMID:17846354 | PMID:17896316 | PMID:17962390 | PMID:18500531 | PMID:18849568 | PMID:19204788 | PMID:19223992 |
| PMID:19365571 | PMID:19844255 | PMID:20539220 | PMID:21242781 | PMID:21873635 | PMID:21887843 | PMID:22261655 | PMID:24311932 | PMID:24801599 | PMID:24926691 | PMID:25081284 | PMID:25086665 |
| PMID:26604660 | PMID:27439461 | PMID:27829782 | PMID:28514442 | PMID:30716718 | PMID:32472422 | PMID:33961781 | PMID:34645431 | PMID:34826417 | PMID:35627129 |
Genomics
