Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Cockayne syndrome | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14661080 more ... | Cockayne syndrome A | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14661080 more ... | genetic disease | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11814058 more ... | hereditary breast ovarian cancer syndrome | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Leigh disease | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | mitochondrial complex I deficiency | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18180188 more ... | Nervous System Malformations | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:16199547 more ... | Neurodevelopmental Disorders | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | nuclear type mitochondrial complex I deficiency 1 | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency and nuclear type 1 | ClinVar | PMID:18180188 more ... | nuclear type mitochondrial complex I deficiency 10 | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY and NUCLEAR TYPE 10 | ClinVar | PMID:18180188 more ... | Subacute Necrotizing Encephalopathy of Leigh, Infantile | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar | PMID:25741868 and PMID:28492532 | UV-Sensitive Syndrome 2 | | ISO | ERCC8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: UV-sensitive syndrome 2 | ClinVar | PMID:18414213 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
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Molecular Function
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Molecular Pathway Annotations
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Cockayne syndrome type A: novel mutations in eight typical patients. | Bertola DR, etal., J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25. |
| 2. | Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. | Fousteri M and Mullenders LH, Cell Res. 2008 Jan;18(1):73-84. doi: 10.1038/cr.2008.6. |
| 3. | Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. | Gorgels TG, etal., Mol Cell Biol. 2007 Feb;27(4):1433-41. Epub 2006 Dec 4. |
| 4. | Nucleotide excision repair: new tricks with old bricks. | Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22. |
| 5. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 6. | High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. | Khayat M, etal., Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746. |
| 7. | Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. | Laugel V, etal., Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154. |
| 8. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 9. | MGD IEA | MGD IEA |
| 10. | Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. | Nagtegaal AP, etal., J Neurosci. 2015 Mar 11;35(10):4280-6. doi: 10.1523/JNEUROSCI.5063-14.2015. |
| 11. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 12. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 13. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 14. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12509261 | PMID:12520002 | PMID:14610273 | PMID:14681479 | PMID:15010313 | PMID:15340056 | PMID:15489334 |
| PMID:16141072 | PMID:16141073 | PMID:16315091 | PMID:16602821 | PMID:16769089 | PMID:18799693 | PMID:20059953 | PMID:20100872 | PMID:20211142 | PMID:21267068 | PMID:21873635 | PMID:22174697 |
| PMID:27122034 | PMID:34628368 |
Genomics
Comparative Map Data
| Ercc8 (Mus musculus - house mouse) |
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| ERCC8 (Homo sapiens - human) |
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| Ercc8 (Rattus norvegicus - Norway rat) |
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| ERCC8 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ERCC8 (Canis lupus familiaris - dog) |
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| Ercc8 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ERCC8 (Sus scrofa - pig) |
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| ERCC8 (Chlorocebus sabaeus - green monkey) |
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| Ercc8 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Ercc8
1693 total Variants 
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