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: rs864321670
rs864321670
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: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		T 0.800 CausalMutation CLINVAR 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: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		T 0.800 CausalMutation CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs864321670
rs864321670
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: rs869320690
rs869320690
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 22170564 2012
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038 2008
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. 11092761 2000
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT
dbSNP: rs766264810
rs766264810
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs766264810
rs766264810
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs863224945
rs863224945
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs863224945
rs863224945
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs863225044
rs863225044
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs863225044
rs863225044
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		T 0.800 CausalMutation CLINVAR