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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
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.

link to ontology dataset
data


Parents

is_a:DOID:0050177(monogenic disease)



Children


is a:FF:10583-108C7 ()


Ontology Tree: Loaded from BioPortal

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
Analyst: Hideya Kawaji

link to source dataset
human : data
mouse : data


No analysis results