Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CDSN | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | CDSN | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | CDSN | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | CDSN | Human | hypotrichosis 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 2 | ClinVar | PMID:10793007 and PMID:12754508 | CDSN | Human | hypotrichosis 2 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 2 | ClinVar | PMID:25741868 and PMID:28492532 | CDSN | Human | hypotrichosis 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypotrichosis 2 | ClinVar | PMID:10793007 more ... | CDSN | Human | megacolon | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | CDSN | Human | peeling skin syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: KERATOLYSIS EXFOLIATIVA CONGENITA | ClinVar | PMID:28492532 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:28492532 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:22146835 more ... | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:31690835 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:25741868 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:23957618 and PMID:2434123 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:21191406 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:20691404 | CDSN | Human | peeling skin syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peeling skin syndrome 1 | ClinVar | PMID:25741868 and PMID:28492532 | CDSN | Human | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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
Imported Human Phenotype Annotations - HPO
Imported Human Phenotype Annotations - ClinVar
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Comparative proteomic profiling of patients with atopic dermatitis based on history of eczema herpeticum infection and Staphylococcus aureus colonization. | Broccardo CJ, etal., J Allergy Clin Immunol. 2011 Jan;127(1):186-93, 193.e1-11. doi: 10.1016/j.jaci.2010.10.033. |
| 2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 3. | Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. | Levy-Nissenbaum E, etal., Nat Genet. 2003 Jun;34(2):151-3. |
| 4. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 7. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
Genomics
Comparative Map Data
| CDSN (Homo sapiens - human) |
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| Cdsn (Mus musculus - house mouse) |
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| Cdsn (Rattus norvegicus - Norway rat) |
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| Cdsn (Chinchilla lanigera - long-tailed chinchilla) |
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| CDSN (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CDSN (Canis lupus familiaris - dog) |
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| Cdsn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CDSN (Sus scrofa - pig) |
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| CDSN (Chlorocebus sabaeus - green monkey) |
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| Cdsn (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in CDSN
110 total Variants 
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