Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 		0.750 Biomarker GENOMICS_ENGLAND A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome. 29749493

2018
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 		0.750 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. 25033069

2014
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C1859093
Disease: Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 		0.750 Biomarker GENOMICS_ENGLAND Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235

2013