Gene: PNPLA6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		0.010 GeneticVariation disease BEFREE The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. 29749493 2018