Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 CausalMutation disease CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 GeneticVariation disease UNIPROT Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND De Barsy syndrome: a review of the phenotype. 18388779 2008
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 Biomarker disease GENOMICS_ENGLAND Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.600 CausalMutation disease CLINVAR ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016