Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777854
rs587777854
PNPLA6
0.800 GeneticVariation UNIPROT Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. 25033069

2014
dbSNP: rs587777854
rs587777854
PNPLA6
0.800 GeneticVariation UNIPROT PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708

2014
dbSNP: rs587777854
rs587777854
PNPLA6
T 0.800 CausalMutation CLINVAR