Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 GeneticVariation phenotype BEFREE Swiss Cheese (SWS) is the Drosophila orthologue of Neuropathy Target Esterase (NTE), a phospholipase that when mutated has been shown to cause a spectrum of disorders in humans that range from intellectual disabilities to ataxia. 31233884 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 GeneticVariation phenotype BEFREE Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations. 29248984 2018
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 Biomarker phenotype BEFREE Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other. 28195350 2017
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 GeneticVariation phenotype BEFREE We identified for the first time PNPLA6 mutations associated with pure cerebellar ataxia in a large autosomal-recessive Parsi kindred. 26995604 2017
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 GeneticVariation phenotype BEFREE Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia. 25267340 2014
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.150 GeneticVariation phenotype CLINVAR