Disease: Spastic Paraplegia 39, Autosomal Recessive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777185
rs587777185
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		0.800 GeneticVariation UNIPROT PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708 2014
dbSNP: rs587777185
rs587777185
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		0.800 GeneticVariation UNIPROT Neuropathy target esterase gene mutations cause motor neuron disease. 18313024 2008
dbSNP: rs587777185
rs587777185
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR