PKHD1

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Web Resources for PKHD1
 ICD-10 search
Other Names
FCYT, TIGM1
Genetic Databases
GENE database on PKHD1
Online Mendelian Inheritance in Man (OMIM) on PKHD1
Pharmacogenomics Knowledge Base (pharmGKB) on PKHD1
Catalogue Of Somatic Mutations In Cancer (COSMIC) on PKHD1
Genome information (GenomeNet, KEGG) on PKHD1
SNP database on PKHD1
Protein Knowledgebase (UniProtKB) on PKHD1
Relevant Clinical Literature
Pubmed on PKHD1
RCT with PKHD1
Systematic reviews of PKHD1
PKHD1 in N Eng J Med, Lancet, JAMA, BMJ
PKHD1 in Cochrane Collaboration
TRIP Database on PKHD1
Google Scholar on PKHD1
Bandolier on PKHD1
UK Guidance
SNOMED search
NHS Evidence on PKHD1
Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates reliability of research)
Nice Guidance on PKHD1
Prodigy Guidance on PKHD1
Other Wikis
Wikipedia on PKHD1 (Less technical, ? quality control)


The PKHD1 gene at 6p21.1-p12 codes for a 4074 amino acid which is processed to fibrocystin. Defects cause polycystic kidney disease and liver fibrosis.

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Categories: Clinical genetics | Ciliopathies | Genes
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