Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 GeneticVariation disease BEFREE Loss-of-function mutations in the human NTE gene have been associated with a spectrum of neurodegenerative disorders such as hereditary spastic paraplegia, ataxia and chorioretinal dystrophy. 31835418 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 GeneticVariation disease 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
0.390 GeneticVariation disease 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 in a field where the genotype-phenotype correlations are rapidly expanding. 26995604 2017
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 Biomarker disease 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
0.390 GeneticVariation disease BEFREE PNPLA6 gene mutations cause hereditary spastic paraplegia (SPG39 HSP), Gordon-Holmes syndrome, Boucher-Neuhäuser syndromes, Laurence-Moon syndrome, and Oliver-McFarlane syndrome. 26671664 2015
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 GeneticVariation disease BEFREE Mutations in the catalytic domain of NTE (PNPLA6) are associated with a slowly developing disease akin to OP neuropathy and hereditary spastic paraplegia called NTE-related motor neuron disorder (NTE-MND). 23220002 2013
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 GeneticVariation disease BEFREE Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)). 22554690 2012
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 Biomarker disease CTD_human Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties. 20382209 2010
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 Biomarker disease BEFREE Recently, mutations in human NTE have been shown to cause a hereditary spastic paraplegia called NTE-related motor neuron disorder, suggesting a critical role for NTE in the nervous system. 20006730 2010
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
0.390 GeneticVariation disease BEFREE In humans, NTE is the target of organophosphorous compounds which cause a paralyzing axonal degeneration and recently mutations in NTE have been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-Neuron Disorder. 18945896 2008