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: rs121434415
rs121434415
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: rs121434416
rs121434416
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: rs587777184
rs587777184
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708 2014
dbSNP: rs587777184
rs587777184
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 PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 24355708 2014
dbSNP: rs121434415
rs121434415
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: rs121434416
rs121434416
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: rs587777184
rs587777184
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 		0.800 GeneticVariation UNIPROT Neuropathy target esterase gene mutations cause motor neuron disease. 18313024 2008
dbSNP: rs121434415
rs121434415
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121434416
rs121434416
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777185
rs587777185
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.800 CausalMutation CLINVAR
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: rs1490826010
rs1490826010
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.700 GeneticVariation 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 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
dbSNP: rs1060502664
rs1060502664
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555749683
rs1555749683
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555751597
rs1555751597
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs756542477
rs756542477
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		C 0.700 CausalMutation CLINVAR
dbSNP: rs756591718
rs756591718
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs773955314
rs773955314
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
CUI: C2677586
Disease:
Spastic Paraplegia 39, Autosomal Recessive 		A 0.700 GeneticVariation CLINVAR