CBR1, carbonyl reductase 1, 873

N. diseases: 100; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263538
Disease: Clubbing of nail
Clubbing of nail
0.010 GeneticVariation phenotype BEFREE Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families affected with primary hypertrophic osteoarthropathy and one family with autosomal-recessive isolated nail clubbing. 19568269 2009