Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		T 0.700 CausalMutation CLINVAR ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
dbSNP: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		T 0.700 CausalMutation CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015