Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5341
Gene Symbol: PLEK
PLEK
0.020 GeneticVariation disease BEFREE Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (<i>FGD1</i>) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. 28587322 2017
Entrez Id: 5341
Gene Symbol: PLEK
PLEK
0.020 GeneticVariation disease BEFREE A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). 10930571 2000