Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126695
Gene Symbol: KDF1
KDF1
0.010 GeneticVariation disease BEFREE We describe a multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia in which positional mapping and exome sequencing identified a novel variant in KDF1 that fully segregates with the phenotype. 27838789 2017