Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.020 GeneticVariation disease BEFREE In summary, recurrent de novo mutations, affecting the highly conserved residue Arg138 of P5CS, cause an autosomal-dominant form of cutis laxa with progeroid features. 26320891 2015
CUI: C0033300
Disease: Progeria
Progeria 		0.010 GeneticVariation disease BEFREE In conclusion, the clinical phenotype caused by ALDH18A1 mutations is diverse, with variable degree of progeria in children, but always in association with neurologic disease. 24767728 2014
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 GeneticVariation disease BEFREE Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. 23963297 2014
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		0.010 GeneticVariation disease BEFREE Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. 29915212 2018
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.010 GeneticVariation disease BEFREE Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations. 23963297 2014
CUI: C1112321
Disease: Congenital cutis laxa
Congenital cutis laxa 		0.010 GeneticVariation disease BEFREE Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014
CUI: C2931356
Disease: Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5A, recessive 		0.010 GeneticVariation disease BEFREE We present a 19-year old male patient with autosomal recessive spastic paraplegia and compound heterozygosity for two ALDH18A1 mutations, one in each of the P5CS domains. 29754261 2018
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation disease BEFREE Autosomal dominant (AD) complex HSP with skeletal abnormalities are consistently seen only in SPG9 (spastic gait type 9). 30029526 2018
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 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: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 21739576 2011
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 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: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND De Barsy syndrome: a review of the phenotype. 18388779 2008
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease CTD_human
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 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: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 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