Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Our study provides novel insight into the deleterious effects of the R119G and G206W mutations on P5CR, and sheds light on the mechanisms by which these mutations mediate Cutis Laxa. 27677826 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. 28294978 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Our study provides insight into the possible role of the R119G mutation during interactions between P5CR and NAD, thus bettering our understanding of how the mutation promotes cutis laxa. 28095341 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 26516448 2015
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene. 23406396 2014
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 24035636 2013
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease CTD_human Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease CLINVAR Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 GeneticVariation disease BEFREE To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. 27339457 2016
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 Biomarker disease BEFREE Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities. 26178373 2015
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 GeneticVariation disease BEFREE Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa. 24733866 2014
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 GeneticVariation disease BEFREE Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation. 22070778 2012
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 GeneticVariation disease BEFREE Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. 20389311 2010
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		0.650 Biomarker disease MGD
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4 		0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4 		0.600 Biomarker disease MGD
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4 		0.600 Biomarker disease HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.400 Biomarker disease GENOMICS_ENGLAND Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 20170900 2010