Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 686
Gene Symbol: BTD
BTD
0.010 GeneticVariation disease BEFREE We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase. 21692842 2012