ciliopathy

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Information
Disease name
ciliopathy
Disease ID
DOID:0060340
Description
"A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." [url:http\://en.wikipedia.org/wiki/Ciliopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/18178628, url:https\://www.ncbi.nlm.nih.gov/pubmed/21210154]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
CSPP1 8 67,064,340 67,196,263 8
CEP152 15 48,737,938 48,811,069 8
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00068224 Completed Clinical and Molecular Investigations Into Ciliopathies March 16, 2003 February 18, 2021
Disase is a (Disease Ontology)
DOID:225