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DOID:2962

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Name:Cockayne syndrome
Namespace:disease_ontology
Definition:"A monogenic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging." [url:http://en.wikipedia.org/wiki/Cockayne_syndrome, url:http://en.wikipedia.org/wiki/ERCC6, url:http://en.wikipedia.org/wiki/ERCC8, url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216411]
Xrefs:
links:

MSH:D003057
NCI:C9460
OMIM:133540
OMIM:216400
SNOMEDCT_2010_1_31:205832003
SNOMEDCT_2010_1_31:21086008

UMLS_CUI:C0009207
Synonyms: "Cockayne's syndrome" RELATED [CSP2005:0977-5812]
Comments:OMIM mapping confirmed by DO. [SN].

Ontology association<br>Each term has an is_a parent in the Disease Ontology, which has a linkage to an another entity and FANTOM5 samples.Libraries were grouped into mutually exclusive facets according to the FANTOM5 sample ontology mapping to DISEASE ontologies.<br><br>link to ontology dataset<br>data


Parents

is_a:DOID:0050177(monogenic disease)



Children


is a:FF:10583-108C7 ()

Ontology Tree: Loaded from BioPortal

Ontorolgy tree(Small window open)

FF samples

Human (Homo sapiens)

Mouse (Mus musculus)

Enrichment analysis: top 100 FFCP enriched with this ontology termTOP 100 FANTOM5 Cage Peaks enriched with DOID:2962 (Cockayne syndrome), sorted by p-values <br>Analyst: Hideya Kawaji<br><br>link to source dataset <br>human : data <br>mouse : data


No analysis results