Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.110 GeneticVariation phenotype BEFREE Taken together, we herein confirm PNPLA6 mutations as the leading cause of Boucher-Neuhäuser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. 25267340 2014
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.110 Biomarker phenotype HPO