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: rs606231167
rs606231167
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		CGCCA 0.700 CausalMutation CLINVAR Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 25480986 2015
dbSNP: rs606231167
rs606231167
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		CGCCA 0.700 CausalMutation CLINVAR PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708 2014
dbSNP: rs606231167
rs606231167
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		CGCCA 0.700 CausalMutation CLINVAR Neuropathy target esterase gene mutations cause motor neuron disease. 18313024 2008