Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		G 0.800 CausalMutation CLINVAR